diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 30ab7dc5..3ad2000b 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/doid.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index aa0c3ac5..5003ee3b 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 7fd89bbf..b5932814 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 0a4051d2..e8f3bbe1 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 18ac94ac..9e3db561 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 13 | -| Axioms | 369157 | -| Logical axioms | 35634 | -| Classes | 31205 | +| Axioms | 369825 | +| Logical axioms | 35719 | +| Classes | 31254 | | Object properties | 6 | | Data properties | 0 | | Individuals | 0 | @@ -32,16 +32,16 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 302303 | -| Declaration | 31220 | -| SubClassOf | 35634 | +| AnnotationAssertion | 302837 | +| Declaration | 31269 | +| SubClassOf | 35719 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 29765 | +| prefix_unknown | 29814 | | oboInOwl | 3 | | owl | 2 | | xsd | 1 | @@ -60,8 +60,8 @@ | Metric | Value | | ------ | ----- | -| Class | 102467 | -| ObjectSomeValuesFrom | 14050 | +| Class | 102686 | +| ObjectSomeValuesFrom | 14071 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 5d56e358..f2dbd6b4 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index dcf0f442..01778ba2 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -1,8 +1,8 @@ # Mapped deprecated terms | Ontology | Tot deprecated in Mondo | |:--------------------------------------------|--------------------------:| -| [OMIM](./mapped_deprecated_omim.md) | 90 | -| [ORDO](./mapped_deprecated_ordo.md) | 619 | +| [OMIM](./mapped_deprecated_omim.md) | 98 | +| [ORDO](./mapped_deprecated_ordo.md) | 620 | | [NCIT](./mapped_deprecated_ncit.md) | 33 | | [DOID](./mapped_deprecated_doid.md) | 26 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index b3ac3936..31d10267 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -19,7 +19,9 @@ | MONDO:0008126 | OMIM:164891 | MONDO:equivalentObsolete | | MONDO:0008204 | OMIM:168850 | MONDO:equivalentObsolete | | MONDO:0008289 | OMIM:607595 | MONDO:equivalentObsolete | +| MONDO:0008409 | OMIM:181430 | MONDO:equivalentObsolete | | MONDO:0008415 | OMIM:181515 | MONDO:equivalentObsolete | +| MONDO:0008448 | OMIM:182920 | MONDO:equivalentObsolete | | MONDO:0008490 | OMIM:277610 | MONDO:equivalentObsolete | | MONDO:0008523 | OMIM:609464 | MONDO:equivalentObsolete | | MONDO:0008774 | OMIM:245130 | MONDO:equivalentObsolete | @@ -28,6 +30,7 @@ | MONDO:0009302 | OMIM:233430 | MONDO:equivalentObsolete | | MONDO:0009307 | OMIM:233670 | MONDO:equivalentObsolete | | MONDO:0009535 | OMIM:247440 | MONDO:equivalentObsolete | +| MONDO:0009654 | OMIM:252700 | MONDO:equivalentObsolete | | MONDO:0009679 | OMIM:253900 | MONDO:equivalentObsolete | | MONDO:0010045 | OMIM:270710 | MONDO:equivalentObsolete | | MONDO:0010205 | OMIM:278100 | MONDO:equivalentObsolete | @@ -35,6 +38,8 @@ | MONDO:0010291 | OMIM:300274 | MONDO:equivalentObsolete | | MONDO:0010295 | OMIM:300301 | MONDO:equivalentObsolete | | MONDO:0010327 | OMIM:300220 | MONDO:equivalentObsolete | +| MONDO:0010340 | OMIM:300494 | MONDO:equivalentObsolete | +| MONDO:0010343 | OMIM:300497 | MONDO:equivalentObsolete | | MONDO:0010346 | OMIM:300504 | MONDO:equivalentObsolete | | MONDO:0010357 | OMIM:300551 | MONDO:equivalentObsolete | | MONDO:0010368 | OMIM:300584 | MONDO:equivalentObsolete | @@ -48,9 +53,11 @@ | MONDO:0010720 | OMIM:307300 | MONDO:equivalentObsolete | | MONDO:0010720 | OMIM:312100 | MONDO:equivalentObsolete | | MONDO:0010804 | OMIM:600048 | MONDO:equivalentObsolete | +| MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete | | MONDO:0010911 | OMIM:600634 | MONDO:equivalentObsolete | | MONDO:0010936 | OMIM:614696 | MONDO:equivalentObsolete | | MONDO:0010957 | OMIM:600908 | MONDO:equivalentObsolete | +| MONDO:0010975 | OMIM:600996 | MONDO:equivalentObsolete | | MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete | | MONDO:0011362 | OMIM:607569 | MONDO:equivalentObsolete | | MONDO:0011401 | OMIM:611155 | MONDO:equivalentObsolete | @@ -62,6 +69,7 @@ | MONDO:0012017 | OMIM:608355 | MONDO:equivalentObsolete | | MONDO:0012215 | OMIM:159000 | MONDO:equivalentObsolete | | MONDO:0012247 | OMIM:609307 | MONDO:equivalentObsolete | +| MONDO:0012279 | OMIM:609456 | MONDO:equivalentObsolete | | MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete | | MONDO:0012560 | OMIM:610799 | MONDO:equivalentObsolete | | MONDO:0012853 | OMIM:233500 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index 27b5a479..de73873d 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -423,6 +423,7 @@ | MONDO:0017995 | Orphanet:329252 | MONDO:equivalentObsolete | | MONDO:0017996 | Orphanet:329255 | MONDO:equivalentObsolete | | MONDO:0018003 | Orphanet:329341 | MONDO:equivalentObsolete | +| MONDO:0018046 | Orphanet:3323 | MONDO:equivalentObsolete | | MONDO:0018070 | Orphanet:338 | MONDO:equivalentObsolete | | MONDO:0018100 | Orphanet:34526 | MONDO:equivalentObsolete | | MONDO:0018101 | Orphanet:34527 | MONDO:equivalentObsolete | diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 55492795..d1b68bd0 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -3,10 +3,10 @@ |:-----------------------------------|:------------|:---------------|:-----------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| | [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | | [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 80,395 | 1,160 | 79,235 | 98.6% | -| [NCIT](./unmapped_ncit.md) | 174,300 | 148,488 | 5,055 | 20,757 | 6,793 | 13,964 | 67.3% | -| [OMIM](./unmapped_omim.md) | 28,154 | 18,928 | 1,230 | 7,996 | 7,622 | 374 | 4.7% | -| [ORDO](./unmapped_ordo.md) | 10,866 | 1,718 | 1,418 | 9,148 | 8,934 | 214 | 2.3% | -| [DOID](./unmapped_doid.md) | 13,689 | 2,626 | 2,473 | 11,062 | 9,727 | 1,335 | 12.1% | +| [NCIT](./unmapped_ncit.md) | 174,300 | 148,488 | 5,055 | 20,757 | 6,790 | 13,967 | 67.3% | +| [OMIM](./unmapped_omim.md) | 28,750 | 18,958 | 1,353 | 8,439 | 8,105 | 334 | 4.0% | +| [ORDO](./unmapped_ordo.md) | 10,866 | 1,718 | 1,418 | 9,148 | 8,935 | 213 | 2.3% | +| [DOID](./unmapped_doid.md) | 13,689 | 2,626 | 2,473 | 11,062 | 9,725 | 1,337 | 12.1% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 3e9ecc69..4c066ad3 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -303,6 +303,7 @@ | DOID:0111721 | amelogenesis imperfecta type 3 | | DOID:0060204 | amyotrophic lateral sclerosis type 13 | | DOID:0111246 | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | +| DOID:873 | anaerobic pneumonia | | DOID:5889 | anaplastic ependymoma | | DOID:7154 | anaplastic oligodendroglioma | | DOID:0080854 | anaplastic pleomorphic xanthoastrocytoma | @@ -346,7 +347,6 @@ | DOID:0080720 | autosomal dominant congenital deafness with onychodystrophy | | DOID:0080807 | autosomal dominant craniodiaphyseal dysplasia | | DOID:0080801 | autosomal dominant craniometaphyseal dysplasia | -| DOID:0070136 | autosomal dominant cutis laxa 2 | | DOID:0070020 | autosomal dominant dyskeratosis congenita 4 | | DOID:0080682 | autosomal dominant familial visceral neuropathy | | DOID:0111269 | autosomal dominant hyaline body myopathy | @@ -365,6 +365,7 @@ | DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | | DOID:0111797 | autosomal recessive congenital nystagmus | | DOID:0080802 | autosomal recessive craniometaphyseal dysplasia | +| DOID:0070141 | autosomal recessive cutis laxa type II classic type | | DOID:0081177 | autosomal recessive intellectual developmental disorder 1 | | DOID:0081185 | autosomal recessive intellectual developmental disorder 10/20 | | DOID:0081186 | autosomal recessive intellectual developmental disorder 11 | @@ -441,6 +442,7 @@ | DOID:0081118 | benign familial infantile seizures 5 | | DOID:0081119 | benign familial infantile seizures 6 | | DOID:0081026 | benign peritoneal solitary fibrous tumor | +| DOID:5157 | benign pleural mesothelioma | | DOID:0080602 | benign teratoma | | DOID:60006 | benign vascular tumor | | DOID:0080772 | beta-thalassemia intermedia | diff --git a/docs/reports/unmapped_ncit.md b/docs/reports/unmapped_ncit.md index 8f4693bb..32dd6f29 100644 --- a/docs/reports/unmapped_ncit.md +++ b/docs/reports/unmapped_ncit.md @@ -5594,6 +5594,8 @@ | NCIT:C23084 | Lymphoproliferative Neoplasms of the Mouse Pharynx | | NCIT:C23148 | Lymphoproliferative Neoplasms of the Mouse Salivary Glands | | NCIT:C26960 | Lymphosarcoma Involving Spleen | +| NCIT:C6725 | Lynch 1 Syndrome | +| NCIT:C6726 | Lynch 2 Syndrome | | NCIT:C188259 | MAFA Related Familial Insulinomatosis | | NCIT:C21881 | MAIDS | | NCIT:C148394 | MCD Diffuse Large B-Cell Lymphoma | @@ -9842,6 +9844,7 @@ | NCIT:C8658 | Refractory Anaplastic Large Cell Lymphoma | | NCIT:C169074 | Refractory Anaplastic Oligodendroglioma | | NCIT:C160905 | Refractory Anaplastic Pleomorphic Xanthoastrocytoma | +| NCIT:C2872 | Refractory Anemia | | NCIT:C8671 | Refractory Angioimmunoblastic T-Cell Lymphoma | | NCIT:C179178 | Refractory Appendix Adenocarcinoma | | NCIT:C179177 | Refractory Appendix Carcinoma | diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 544004cc..d4ab2e0a 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -1,378 +1,338 @@ ## OMIM ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:-----------------------------------------------------------------------------------------------------------------------| -| OMIM:619835 | 3-methylglutaconic aciduria, iia 7a | -| OMIM:619959 | acces syndrome | -| OMIM:619824 | agammaglobulinemia 8b, autosomal recessive | -| OMIM:619268 | alzahrani-kuwahara syndrome | -| OMIM:619352 | ataxia, intention tremor, and hypotonia syndrome, childhood-onset | -| OMIM:620184 | atelis syndrome 1 | -| OMIM:620185 | atelis syndrome 2 | -| OMIM:619957 | attention deficit-hyperactivity disorder 8 | -| OMIM:619832 | auditory neuropathy, autosomal dominant 3 | -| OMIM:619339 | bartsocas-papas syndrome 2 | -| OMIM:619326 | bdv syndrome | -| OMIM:620076 | bent bone dysplasia syndrome 2 | -| OMIM:619481 | bile acid malabsorption, primary, 2 | -| OMIM:619534 | biliary, renal, neurologic, and skeletal syndrome | -| OMIM:619293 | blepharophimosis-impaired intellectual development syndrome | -| OMIM:620207 | blood group, er | -| OMIM:620044 | bone marrow failure and diabetes mellitus syndrome | -| OMIM:619543 | boudin-mortier syndrome | -| OMIM:619980 | braddock-carey syndrome 1 | -| OMIM:619981 | braddock-carey syndrome 2 | -| OMIM:620186 | branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | -| OMIM:619690 | brunet-wagner neurodevelopmental syndrome | -| OMIM:619314 | buratti-harel syndrome | -| OMIM:620067 | cardiac valvular dysplasia 2 | -| OMIM:620247 | cardiomyopathy, dilated, 1oo | -| OMIM:620203 | cardiomyopathy, dilated, 2h | -| OMIM:620236 | cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | -| OMIM:619941 | carey-fineman-ziter syndrome 2 | -| OMIM:620253 | cataract 50 with or without glaucoma | -| OMIM:619338 | cataracts, spastic paraparesis, and speech delay | -| OMIM:619576 | cerebellar ataxia, brain abnormalities, and cardiac conduction defects | -| OMIM:619761 | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | -| OMIM:619538 | cerebral cavernous malformations 4 | -| OMIM:620111 | charcot-marie-tooth disease, demyelinating, iia 1j | -| OMIM:619841 | chilton-okur-chung neurodevelopmental syndrome | -| OMIM:619504 | chopra-amiel-gordon syndrome | -| OMIM:619649 | chromosome 16q12 duplication syndrome | -| OMIM:619343 | chromosome 1p36 deletion syndrome, proximal | -| OMIM:301069 | chromosome xq13 duplication syndrome | -| OMIM:620197 | ciliary dyskinesia, primary, 49, without situs inversus | -| OMIM:620099 | cleidocranial dysplasia 2 | -| OMIM:619743 | combined oxidative phosphorylation deficiency 55 | -| OMIM:620139 | combined oxidative phosphorylation deficiency 56 | -| OMIM:620167 | combined oxidative phosphorylation deficiency 57 | -| OMIM:620200 | congenital disorder of glycosylation, iia iiy | -| OMIM:620201 | congenital disorder of glycosylation, iia iiz | -| OMIM:619714 | congenital disorder of glycosylation, iia iw, autosomal dominant | -| OMIM:619657 | congenital heart defects, multiple types, 8, with or without heterotaxy | -| OMIM:619871 | corneal dystrophy, punctiform and polychromatic pre-descemet | -| OMIM:620156 | cortical dysplasia, complex, with other brain malformations 11 | -| OMIM:616994 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | -| OMIM:619727 | craniotubular dysplasia, ikegawa iia | -| OMIM:620227 | deafness, autosomal dominant 85 | -| OMIM:620238 | deafness, autosomal recessive 120 | -| OMIM:619354 | deafness, cataract, impaired intellectual development, and polyneuropathy | -| OMIM:619488 | degcags syndrome | -| OMIM:619613 | delayed puberty, self-limited | -| OMIM:619877 | dentici-novelli neurodevelopmental syndrome | -| OMIM:620115 | developmental and epileptic encephalopathy 108 | -| OMIM:620145 | developmental and epileptic encephalopathy 109 | -| OMIM:620149 | developmental and epileptic encephalopathy 110 | -| OMIM:620240 | developmental delay with hypotonia, myopathy, and brain abnormalities | -| OMIM:619575 | developmental delay with or without intellectual impairment or behavioral abnormalities | -| OMIM:620062 | developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | -| OMIM:620098 | developmental delay with variable intellectual disability and dysmorphic facies | -| OMIM:619694 | developmental delay with variable neurologic and brain abnormalities | -| OMIM:620065 | developmental delay, behavioral abnormalities, and neuropsychiatric disorders | -| OMIM:620012 | developmental delay, hypotonia, and impaired language | -| OMIM:619595 | developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | -| OMIM:619475 | developmental delay, impaired speech, and behavioral abnormalities | -| OMIM:619964 | developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | -| OMIM:620141 | developmental delay, language impairment, and ocular abnormalities | -| OMIM:620025 | diaphragmatic hernia 4, with cardiovascular defects | -| OMIM:619955 | dworschak-punetha neurodevelopmental syndrome | -| OMIM:620133 | dyskeratosis congenita, autosomal recessive 8 | -| OMIM:619345 | dysostosis multiplex, ain-naz iia | -| OMIM:619681 | dystonia, early-onset, and/or spastic paraplegia | -| OMIM:619817 | epidermolysis bullosa, junctional 6, with pyloric atresia | -| OMIM:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | -| OMIM:620245 | episodic kinesigenic dyskinesia 3 | -| OMIM:620058 | familial apolipoprotein gene cluster deletion syndrome | -| OMIM:620116 | fatty liver disease, protection from | -| OMIM:619376 | faundes-banka syndrome | -| OMIM:619699 | ferguson-bonni neurodevelopmental syndrome | -| OMIM:619602 | fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | -| OMIM:619329 | fibromuscular dysplasia, multifocal | -| OMIM:619985 | glycosylphosphatidylinositol biosynthesis defect 25 | -| OMIM:619321 | growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | -| OMIM:619462 | hemolytic disease of fetus and newborn, rh-induced | -| OMIM:619641 | hengel-maroofian-schols syndrome | -| OMIM:619902 | hepatorenocardiac degenerative fibrosis | -| OMIM:619702 | heterotaxy, visceral, 12, autosomal | -| OMIM:619311 | hiatt-neu-cooper neurodevelopmental syndrome | -| OMIM:620241 | hydrocephalus, congenital, 5, susceptibility to | -| OMIM:147060 | hyper-ige recurrent infection syndrome 1, autosomal dominant | -| OMIM:620211 | hyperinsulinemic hypoglycemia, familial, 8 | -| OMIM:620085 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | -| OMIM:619324 | hypertriglyceridemia 2 | -| OMIM:619836 | hypoalphalipoproteinemia, primary, 2, intermediate | -| OMIM:619406 | hypokalemic tubulopathy and deafness | -| OMIM:620152 | hypomagnesemia 7, renal, with or without dilated cardiomyopathy | -| OMIM:619545 | hypoplastic femurs and pelvis | -| OMIM:620177 | hypotrichosis 15 | -| OMIM:620148 | ichthyosis, annular epidermolytic, 2 | -| OMIM:619733 | inclusion body myopathy and brain white matter abnormalities | -| OMIM:620199 | inflammatory poikiloderma with hair abnormalities and acral keratoses | -| OMIM:620021 | intellectual developmental disorder with autism and dysmorphic facies | -| OMIM:619556 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | -| OMIM:619911 | intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism | -| OMIM:620007 | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | -| OMIM:620086 | intellectual developmental disorder with ocular anomalies and distinctive facial features | -| OMIM:619844 | intellectual developmental disorder with or without peripheral neuropathy | -| OMIM:301095 | intellectual developmental disorder, X-linked 110 | -| OMIM:620157 | intellectual developmental disorder, autosomal dominant 70 | -| OMIM:620237 | intellectual developmental disorder, autosomal recessive 78 | -| OMIM:301066 | intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | -| OMIM:619719 | intellectual disability and myopathy syndrome | -| OMIM:620045 | intestinal dysmotility syndrome | -| OMIM:620121 | iron overload, susceptibility to | -| OMIM:620232 | joint contractures, osteochondromas, and b-cell lymphoma | -| OMIM:620009 | keratoderma-ichthyosis-deafness syndrome, autosomal recessive | -| OMIM:619297 | kinsship syndrome | -| OMIM:619762 | kury-isidor syndrome | -| OMIM:620192 | lacrimoauriculodentodigital syndrome 2 | -| OMIM:620193 | lacrimoauriculodentodigital syndrome 3 | -| OMIM:619864 | leukodystrophy, childhood-onset, remitting | -| OMIM:619851 | leukodystrophy, hypomyelinating, 24 | -| OMIM:620243 | leukodystrophy, hypomyelinating, 25 | -| OMIM:619991 | liver disease, severe congenital | -| OMIM:619460 | luo-schoch-yamamoto syndrome | -| OMIM:620244 | lymphatic malformation 13 | -| OMIM:619769 | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | -| OMIM:619977 | macular dystrophy, retinal, 4 | -| OMIM:619290 | mahvash disease | -| OMIM:619322 | marbach-rustad progeroid syndrome | -| OMIM:619680 | marbach-schaaf neurodevelopmental syndrome | -| OMIM:620183 | microcephaly 30, primary, autosomal recessive | -| OMIM:620135 | mitochondrial complex 1 deficiency, nuclear iia 39 | -| OMIM:620137 | mitochondrial complex 3 deficiency, nuclear iia 11 | -| OMIM:619355 | mitochondrial complex 4 deficiency, nuclear iia 22 | -| OMIM:620153 | mosaic variegated aneuploidy syndrome 4 | -| OMIM:620189 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | -| OMIM:619518 | muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | -| OMIM:620166 | muscular dystrophy, congenital, with or without seizures | -| OMIM:620138 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | -| OMIM:619967 | myopathy, congenital, nonprogressive | -| OMIM:620161 | myopathy, congenital, with neonatal respiratory insufficiency | -| OMIM:619424 | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | -| OMIM:619468 | nephronophthisis-like nephropathy 2 | -| OMIM:619869 | neurocardiofaciodigital syndrome | -| OMIM:620089 | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | -| OMIM:619847 | neurodegeneration, childhood-onset, with progressive microcephaly | -| OMIM:619797 | neurodevelopmental disorder with central hypotonia and dysmorphic facies | -| OMIM:619333 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | -| OMIM:620083 | neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | -| OMIM:619306 | neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | -| OMIM:620210 | neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | -| OMIM:620073 | neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | -| OMIM:619480 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | -| OMIM:619922 | neurodevelopmental disorder with dystonia and seizures | -| OMIM:619971 | neurodevelopmental disorder with epilepsy and brain atrophy | -| OMIM:620094 | neurodevelopmental disorder with eye movement abnormalities and ataxia | -| OMIM:620075 | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | -| OMIM:301094 | neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | -| OMIM:620113 | neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | -| OMIM:619616 | neurodevelopmental disorder with hearing loss and spasticity | -| OMIM:619651 | neurodevelopmental disorder with hyperkinetic movements and dyskinesia | -| OMIM:619512 | neurodevelopmental disorder with hypotonia and brain abnormalities | -| OMIM:619503 | neurodevelopmental disorder with hypotonia and dysmorphic facies | -| OMIM:619639 | neurodevelopmental disorder with hypotonia and gross motor and speech delay | -| OMIM:620224 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | -| OMIM:620191 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | -| OMIM:619383 | neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | -| OMIM:619854 | neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | -| OMIM:620029 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | -| OMIM:619580 | neurodevelopmental disorder with impaired language and ataxia and with or without seizures | -| OMIM:619373 | neurodevelopmental disorder with infantile epileptic spasms | -| OMIM:619995 | neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | -| OMIM:619908 | neurodevelopmental disorder with language delay and seizures | -| OMIM:620066 | neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | -| OMIM:620038 | neurodevelopmental disorder with microcephaly, hypotonia, and absent language | -| OMIM:619876 | neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | -| OMIM:620023 | neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | -| OMIM:619685 | neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | -| OMIM:620027 | neurodevelopmental disorder with microcephaly, short stature, and speech delay | -| OMIM:619470 | neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | -| OMIM:619833 | neurodevelopmental disorder with neuromuscular and skeletal abnormalities | -| OMIM:619725 | neurodevelopmental disorder with or without variable movement or behavioral abnormalities | -| OMIM:620242 | neurodevelopmental disorder with poor growth and behavioral abnormalities | -| OMIM:619880 | neurodevelopmental disorder with poor growth and skeletal anomalies | -| OMIM:620194 | neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | -| OMIM:620071 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | -| OMIM:619517 | neurodevelopmental disorder with seizures and brain abnormalities | -| OMIM:619323 | neurodevelopmental disorder with seizures and gingival overgrowth | -| OMIM:620024 | neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | -| OMIM:619972 | neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | -| OMIM:620070 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | -| OMIM:619286 | neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | -| OMIM:620001 | neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | -| OMIM:619989 | neurodevelopmental disorder with speech delay and variable ocular anomalies | -| OMIM:620114 | neurodevelopmental disorder with speech impairment and with or without seizures | -| OMIM:619653 | neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | -| OMIM:619522 | neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | -| OMIM:620080 | neuronopathy, distal hereditary motor, iia 10 | -| OMIM:619539 | neuroocular syndrome | -| OMIM:620195 | obesity and hypopigmentation | -| OMIM:619318 | oculogastrointestinal neurodevelopmental syndrome | -| OMIM:619356 | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | -| OMIM:620154 | oocyte maturation defect 13 | -| OMIM:620107 | orofaciodigital syndrome 19 | -| OMIM:619377 | osteootohepatoenteric syndrome | -| OMIM:619884 | osteoporosis, childhood- or juvenile-onset, with developmental delay | -| OMIM:619873 | parenti-mignot neurodevelopmental syndrome | -| OMIM:619491 | parkinson disease 24, autosomal dominant, susceptibility to | -| OMIM:619903 | peripheral motor neuropathy, childhood-onset, biotin-responsive | -| OMIM:619859 | phosphoribosylaminoimidazole carboxylase deficiency | -| OMIM:620005 | primordial dwarfism-immunodeficiency-lipodystrophy syndrome | -| OMIM:620125 | pseudohypoaldosteronism, iia ib2, autosomal recessive | -| OMIM:620126 | pseudohypoaldosteronism, iia ib3, autosomal recessive | -| OMIM:607507 | psoriatic arthritis, susceptibility to | -| OMIM:620155 | rabin-pappas syndrome | -| OMIM:619312 | radio-tartaglia syndrome | -| OMIM:619695 | rauch-steindl syndrome | -| OMIM:102570 | removed from database | -| OMIM:102920 | removed from database | -| OMIM:102930 | removed from database | -| OMIM:102940 | removed from database | -| OMIM:102970 | removed from database | -| OMIM:107253 | removed from database | -| OMIM:108400 | removed from database | -| OMIM:117200 | removed from database | -| OMIM:121000 | removed from database | -| OMIM:124580 | removed from database | -| OMIM:125510 | removed from database | -| OMIM:126440 | removed from database | -| OMIM:132860 | removed from database | -| OMIM:133710 | removed from database | -| OMIM:133730 | removed from database | -| OMIM:133740 | removed from database | -| OMIM:136670 | removed from database | -| OMIM:138391 | removed from database | -| OMIM:139220 | removed from database | -| OMIM:139230 | removed from database | -| OMIM:142420 | removed from database | -| OMIM:142870 | removed from database | -| OMIM:143070 | removed from database | -| OMIM:143080 | removed from database | -| OMIM:147410 | removed from database | -| OMIM:147490 | removed from database | -| OMIM:147684 | removed from database | -| OMIM:151550 | removed from database | -| OMIM:155960 | removed from database | -| OMIM:163900 | removed from database | -| OMIM:164710 | removed from database | -| OMIM:164830 | removed from database | -| OMIM:170950 | removed from database | -| OMIM:171700 | removed from database | -| OMIM:177860 | removed from database | -| OMIM:179715 | removed from database | -| OMIM:180330 | removed from database | -| OMIM:180930 | removed from database | -| OMIM:180940 | removed from database | -| OMIM:183250 | removed from database | -| OMIM:185450 | removed from database | -| OMIM:185595 | removed from database | -| OMIM:186690 | removed from database | -| OMIM:186920 | removed from database | -| OMIM:192070 | removed from database | -| OMIM:193675 | removed from database | -| OMIM:194520 | removed from database | -| OMIM:194530 | removed from database | -| OMIM:200930 | removed from database | -| OMIM:204400 | removed from database | -| OMIM:211420 | removed from database | -| OMIM:212600 | removed from database | -| OMIM:212700 | removed from database | -| OMIM:221000 | removed from database | -| OMIM:225360 | removed from database | -| OMIM:231400 | removed from database | -| OMIM:231610 | removed from database | -| OMIM:239400 | removed from database | -| OMIM:240100 | removed from database | -| OMIM:242800 | removed from database | -| OMIM:245500 | removed from database | -| OMIM:249800 | removed from database | -| OMIM:252030 | removed from database | -| OMIM:253500 | removed from database | -| OMIM:261660 | removed from database | -| OMIM:264810 | removed from database | -| OMIM:275600 | removed from database | -| OMIM:300900 | removed from database | -| OMIM:301880 | removed from database | -| OMIM:304990 | removed from database | -| OMIM:305650 | removed from database | -| OMIM:306600 | removed from database | -| OMIM:308210 | removed from database | -| OMIM:308400 | removed from database | -| OMIM:311700 | removed from database | -| OMIM:312030 | removed from database | -| OMIM:312530 | removed from database | -| OMIM:313450 | removed from database | -| OMIM:313460 | removed from database | -| OMIM:313550 | removed from database | -| OMIM:314350 | removed from database | -| OMIM:314920 | removed from database | -| OMIM:314940 | removed from database | -| OMIM:314960 | removed from database | -| OMIM:400000 | removed from database | -| OMIM:424000 | removed from database | -| OMIM:510000 | removed from database | -| OMIM:600261 | removed from database | -| OMIM:600499 | removed from database | -| OMIM:600606 | removed from database | -| OMIM:601050 | removed from database | -| OMIM:601106 | removed from database | -| OMIM:601169 | removed from database | -| OMIM:601294 | removed from database | -| OMIM:602029 | removed from database | -| OMIM:602147 | removed from database | -| OMIM:602456 | removed from database | -| OMIM:603653 | removed from database | -| OMIM:603793 | removed from database | -| OMIM:603986 | removed from database | -| OMIM:603990 | removed from database | -| OMIM:604006 | removed from database | -| OMIM:604007 | removed from database | -| OMIM:604338 | removed from database | -| OMIM:604339 | removed from database | -| OMIM:604340 | removed from database | -| OMIM:604341 | removed from database | -| OMIM:604342 | removed from database | -| OMIM:604343 | removed from database | -| OMIM:605177 | removed from database | -| OMIM:608297 | removed from database | -| OMIM:609830 | removed from database | -| OMIM:615971 | removed from database | -| OMIM:616018 | removed from database | -| OMIM:618428 | removed from database | -| OMIM:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | -| OMIM:619446 | retinal dystrophy and microvillus inclusion disease | -| OMIM:620102 | retinitis pigmentosa 95 | -| OMIM:620228 | retinitis pigmentosa 96 | -| OMIM:620235 | rhabdomyolysis, susceptibility to, 1 | -| OMIM:180295 | rhabdomyosarcoma, embryonal, 2 | -| OMIM:619598 | rhizomelic dysplasia, ain-naz iia | -| OMIM:181460 | schistosoma mansoni infection, susceptibility/resistance to | -| OMIM:620231 | short qt syndrome 7 | -| OMIM:619489 | short stature, dauber-argente iia | -| OMIM:619557 | short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | -| OMIM:619464 | sick sinus syndrome 4 | -| OMIM:620221 | spastic paraplegia 79a, autosomal dominant, with ataxia | -| OMIM:620106 | spastic paraplegia 88, autosomal dominant | -| OMIM:620170 | spermatogenic failure 78 | -| OMIM:620196 | spermatogenic failure 79 | -| OMIM:620222 | spermatogenic failure 80 | -| OMIM:620011 | spinal muscular atrophy, distal, autosomal recessive, 6 | -| OMIM:620174 | spinocerebellar ataxia 27b, late-onset | -| OMIM:620158 | spinocerebellar ataxia 50 | -| OMIM:619862 | spinocerebellar ataxia, autosomal recessive 32 | -| OMIM:620208 | spinocerebellar ataxia, autosomal recessive 33 | -| OMIM:301080 | systemic lupus erythematosus 17 | -| OMIM:301071 | thrombophilia, x-linked, due to factor 8 defect | -| OMIM:620198 | thyroid hormone metabolism, abnormal, 3 | -| OMIM:620173 | tooth agenesis, selective, 10 | -| OMIM:619975 | tumor predisposition syndrome 2 | -| OMIM:619467 | usmani-riazuddin syndrome, autosomal dominant | -| OMIM:619548 | usmani-riazuddin syndrome, autosomal recessive | -| OMIM:619501 | ventriculomegaly and arthrogryposis | -| OMIM:619400 | visceral leiomyopathy, african degenerative | -| OMIM:619350 | visceral myopathy 2 | -| OMIM:619472 | viss syndrome | -| OMIM:619426 | white-kernohan syndrome | -| OMIM:619701 | yoon-bellen neurodevelopmental syndrome | -| OMIM:619648 | zaki syndrome | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:-----------------------------------------------------------------------------------------------------------------------| +| OMIM:619835 | 3-methylglutaconic aciduria, iia 7a | +| OMIM:619959 | acces syndrome | +| OMIM:620015 | advance sleep phase syndrome, familial, 4 | +| OMIM:619824 | agammaglobulinemia 8b, autosomal recessive | +| OMIM:619268 | alzahrani-kuwahara syndrome | +| OMIM:620104 | amelogenesis imperfecta, iia 1k | +| OMIM:620285 | amyotrophic lateral sclerosis 27, juvenile | +| OMIM:620019 | arthrogryposis, distal, iia 11 | +| OMIM:619352 | ataxia, intention tremor, and hypotonia syndrome, childhood-onset | +| OMIM:620184 | atelis syndrome 1 | +| OMIM:620185 | atelis syndrome 2 | +| OMIM:619957 | attention deficit-hyperactivity disorder 8 | +| OMIM:619832 | auditory neuropathy, autosomal dominant 3 | +| OMIM:619339 | bartsocas-papas syndrome 2 | +| OMIM:619326 | bdv syndrome | +| OMIM:620076 | bent bone dysplasia syndrome 2 | +| OMIM:619481 | bile acid malabsorption, primary, 2 | +| OMIM:619534 | biliary, renal, neurologic, and skeletal syndrome | +| OMIM:619293 | blepharophimosis-impaired intellectual development syndrome | +| OMIM:620207 | blood group, er | +| OMIM:620044 | bone marrow failure and diabetes mellitus syndrome | +| OMIM:619543 | boudin-mortier syndrome | +| OMIM:619980 | braddock-carey syndrome 1 | +| OMIM:619981 | braddock-carey syndrome 2 | +| OMIM:620186 | branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | +| OMIM:619690 | brunet-wagner neurodevelopmental syndrome | +| OMIM:619314 | buratti-harel syndrome | +| OMIM:620067 | cardiac valvular dysplasia 2 | +| OMIM:620247 | cardiomyopathy, dilated, 1oo | +| OMIM:620203 | cardiomyopathy, dilated, 2h | +| OMIM:620236 | cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | +| OMIM:619941 | carey-fineman-ziter syndrome 2 | +| OMIM:620253 | cataract 50 with or without glaucoma | +| OMIM:619338 | cataracts, spastic paraparesis, and speech delay | +| OMIM:619576 | cerebellar ataxia, brain abnormalities, and cardiac conduction defects | +| OMIM:619761 | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | +| OMIM:619538 | cerebral cavernous malformations 4 | +| OMIM:620068 | charcot-marie-tooth disease, axonal, iia 2ii | +| OMIM:620111 | charcot-marie-tooth disease, demyelinating, iia 1j | +| OMIM:619841 | chilton-okur-chung neurodevelopmental syndrome | +| OMIM:620010 | cholestasis, progressive familial intrahepatic, 12 | +| OMIM:619504 | chopra-amiel-gordon syndrome | +| OMIM:619649 | chromosome 16q12 duplication syndrome | +| OMIM:619343 | chromosome 1p36 deletion syndrome, proximal | +| OMIM:301069 | chromosome xq13 duplication syndrome | +| OMIM:620032 | ciliary dyskinesia, primary, 48, without situs inversus | +| OMIM:620197 | ciliary dyskinesia, primary, 49, without situs inversus | +| OMIM:620099 | cleidocranial dysplasia 2 | +| OMIM:619743 | combined oxidative phosphorylation deficiency 55 | +| OMIM:620139 | combined oxidative phosphorylation deficiency 56 | +| OMIM:620167 | combined oxidative phosphorylation deficiency 57 | +| OMIM:620200 | congenital disorder of glycosylation, iia iiy | +| OMIM:620201 | congenital disorder of glycosylation, iia iiz | +| OMIM:619714 | congenital disorder of glycosylation, iia iw, autosomal dominant | +| OMIM:619657 | congenital heart defects, multiple types, 8, with or without heterotaxy | +| OMIM:620294 | congenital heart defects, multiple types, 9 | +| OMIM:620249 | congenital myopathy 10b, mild variant | +| OMIM:619967 | congenital myopathy 11 | +| OMIM:620161 | congenital myopathy 15 | +| OMIM:620246 | congenital myopathy 18 | +| OMIM:620265 | congenital myopathy 2b, severe infantile, autosomal recessive | +| OMIM:620278 | congenital myopathy 2c, severe infantile, autosomal dominant | +| OMIM:619871 | corneal dystrophy, punctiform and polychromatic pre-descemet | +| OMIM:620156 | cortical dysplasia, complex, with other brain malformations 11 | +| OMIM:616994 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | +| OMIM:619727 | craniotubular dysplasia, ikegawa iia | +| OMIM:620227 | deafness, autosomal dominant 85 | +| OMIM:620280 | deafness, autosomal dominant 86 | +| OMIM:620281 | deafness, autosomal dominant 87 | +| OMIM:620283 | deafness, autosomal dominant 88 | +| OMIM:620284 | deafness, autosomal dominant 89 | +| OMIM:620238 | deafness, autosomal recessive 120 | +| OMIM:619354 | deafness, cataract, impaired intellectual development, and polyneuropathy | +| OMIM:619488 | degcags syndrome | +| OMIM:619613 | delayed puberty, self-limited | +| OMIM:619877 | dentici-novelli neurodevelopmental syndrome | +| OMIM:619913 | developmental and epileptic encephalopathy 103 | +| OMIM:619970 | developmental and epileptic encephalopathy 104 | +| OMIM:619983 | developmental and epileptic encephalopathy 105 with hypopituitarism | +| OMIM:620028 | developmental and epileptic encephalopathy 106 | +| OMIM:620033 | developmental and epileptic encephalopathy 107 | +| OMIM:620115 | developmental and epileptic encephalopathy 108 | +| OMIM:620145 | developmental and epileptic encephalopathy 109 | +| OMIM:620149 | developmental and epileptic encephalopathy 110 | +| OMIM:620240 | developmental delay with hypotonia, myopathy, and brain abnormalities | +| OMIM:619575 | developmental delay with or without intellectual impairment or behavioral abnormalities | +| OMIM:620062 | developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | +| OMIM:620098 | developmental delay with variable intellectual disability and dysmorphic facies | +| OMIM:619694 | developmental delay with variable neurologic and brain abnormalities | +| OMIM:620065 | developmental delay, behavioral abnormalities, and neuropsychiatric disorders | +| OMIM:620012 | developmental delay, hypotonia, and impaired language | +| OMIM:619595 | developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | +| OMIM:619475 | developmental delay, impaired speech, and behavioral abnormalities | +| OMIM:619964 | developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | +| OMIM:620141 | developmental delay, language impairment, and ocular abnormalities | +| OMIM:620072 | diamond-blackfan anemia 21 | +| OMIM:620025 | diaphragmatic hernia 4, with cardiovascular defects | +| OMIM:619955 | dworschak-punetha neurodevelopmental syndrome | +| OMIM:620133 | dyskeratosis congenita, autosomal recessive 8 | +| OMIM:620040 | dyskeratosis congenita, digenic | +| OMIM:619345 | dysostosis multiplex, ain-naz iia | +| OMIM:619921 | dystonia 35, childhood-onset | +| OMIM:619681 | dystonia, early-onset, and/or spastic paraplegia | +| OMIM:619817 | epidermolysis bullosa, junctional 6, with pyloric atresia | +| OMIM:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | +| OMIM:620245 | episodic kinesigenic dyskinesia 3 | +| OMIM:620058 | familial apolipoprotein gene cluster deletion syndrome | +| OMIM:620116 | fatty liver disease, protection from | +| OMIM:619376 | faundes-banka syndrome | +| OMIM:619699 | ferguson-bonni neurodevelopmental syndrome | +| OMIM:619602 | fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | +| OMIM:619329 | fibromuscular dysplasia, multifocal | +| OMIM:619985 | glycosylphosphatidylinositol biosynthesis defect 25 | +| OMIM:619321 | growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | +| OMIM:619462 | hemolytic disease of fetus and newborn, rh-induced | +| OMIM:619641 | hengel-maroofian-schols syndrome | +| OMIM:619902 | hepatorenocardiac degenerative fibrosis | +| OMIM:619702 | heterotaxy, visceral, 12, autosomal | +| OMIM:619311 | hiatt-neu-cooper neurodevelopmental syndrome | +| OMIM:620241 | hydrocephalus, congenital, 5, susceptibility to | +| OMIM:620211 | hyperinsulinemic hypoglycemia, familial, 8 | +| OMIM:620085 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | +| OMIM:619324 | hypertriglyceridemia 2 | +| OMIM:619836 | hypoalphalipoproteinemia, primary, 2, intermediate | +| OMIM:619406 | hypokalemic tubulopathy and deafness | +| OMIM:620152 | hypomagnesemia 7, renal, with or without dilated cardiomyopathy | +| OMIM:619545 | hypoplastic femurs and pelvis | +| OMIM:620177 | hypotrichosis 15 | +| OMIM:620148 | ichthyosis, annular epidermolytic, 2 | +| OMIM:619935 | immunodeficiency 106, susceptibility to viral infections | +| OMIM:619986 | immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection | +| OMIM:620282 | immunodeficiency 109 with lymphoproliferation | +| OMIM:619733 | inclusion body myopathy and brain white matter abnormalities | +| OMIM:620199 | inflammatory poikiloderma with hair abnormalities and acral keratoses | +| OMIM:620021 | intellectual developmental disorder with autism and dysmorphic facies | +| OMIM:619556 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | +| OMIM:619911 | intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism | +| OMIM:620007 | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | +| OMIM:620086 | intellectual developmental disorder with ocular anomalies and distinctive facial features | +| OMIM:619844 | intellectual developmental disorder with or without peripheral neuropathy | +| OMIM:301095 | intellectual developmental disorder, X-linked 110 | +| OMIM:619927 | intellectual developmental disorder, autosomal dominant 67 | +| OMIM:619934 | intellectual developmental disorder, autosomal dominant 68 | +| OMIM:620157 | intellectual developmental disorder, autosomal dominant 70 | +| OMIM:619931 | intellectual developmental disorder, autosomal recessive 76 | +| OMIM:619988 | intellectual developmental disorder, autosomal recessive 77 | +| OMIM:620237 | intellectual developmental disorder, autosomal recessive 78 | +| OMIM:301066 | intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | +| OMIM:619719 | intellectual disability and myopathy syndrome | +| OMIM:620045 | intestinal dysmotility syndrome | +| OMIM:620121 | iron overload, susceptibility to | +| OMIM:620232 | joint contractures, osteochondromas, and b-cell lymphoma | +| OMIM:620009 | keratoderma-ichthyosis-deafness syndrome, autosomal recessive | +| OMIM:619297 | kinsship syndrome | +| OMIM:619762 | kury-isidor syndrome | +| OMIM:620192 | lacrimoauriculodentodigital syndrome 2 | +| OMIM:620193 | lacrimoauriculodentodigital syndrome 3 | +| OMIM:619864 | leukodystrophy, childhood-onset, remitting | +| OMIM:619851 | leukodystrophy, hypomyelinating, 24 | +| OMIM:620243 | leukodystrophy, hypomyelinating, 25 | +| OMIM:620269 | leukodystrophy, hypomyelinating, 26, with chondrodysplasia | +| OMIM:619991 | liver disease, severe congenital | +| OMIM:619460 | luo-schoch-yamamoto syndrome | +| OMIM:620014 | lymphatic malformation 12 | +| OMIM:620244 | lymphatic malformation 13 | +| OMIM:619769 | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | +| OMIM:619977 | macular dystrophy, retinal, 4 | +| OMIM:619290 | mahvash disease | +| OMIM:619322 | marbach-rustad progeroid syndrome | +| OMIM:619680 | marbach-schaaf neurodevelopmental syndrome | +| OMIM:620047 | microcephaly 29, primary, autosomal recessive | +| OMIM:620183 | microcephaly 30, primary, autosomal recessive | +| OMIM:620135 | mitochondrial complex 1 deficiency, nuclear iia 39 | +| OMIM:620137 | mitochondrial complex 3 deficiency, nuclear iia 11 | +| OMIM:619355 | mitochondrial complex 4 deficiency, nuclear iia 22 | +| OMIM:620275 | mitochondrial complex 4 deficiency, nuclear iia 23 | +| OMIM:620153 | mosaic variegated aneuploidy syndrome 4 | +| OMIM:620189 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | +| OMIM:619518 | muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | +| OMIM:620166 | muscular dystrophy, congenital, with or without seizures | +| OMIM:620138 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | +| OMIM:619424 | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | +| OMIM:620286 | myopathy, sarcoplasmic body | +| OMIM:619468 | nephronophthisis-like nephropathy 2 | +| OMIM:620049 | nephrotic syndrome, iia 26 | +| OMIM:619869 | neurocardiofaciodigital syndrome | +| OMIM:620089 | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | +| OMIM:619847 | neurodegeneration, childhood-onset, with progressive microcephaly | +| OMIM:620270 | neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | +| OMIM:619797 | neurodevelopmental disorder with central hypotonia and dysmorphic facies | +| OMIM:619333 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | +| OMIM:620083 | neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | +| OMIM:619306 | neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | +| OMIM:620210 | neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | +| OMIM:620073 | neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | +| OMIM:619480 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | +| OMIM:619922 | neurodevelopmental disorder with dystonia and seizures | +| OMIM:619971 | neurodevelopmental disorder with epilepsy and brain atrophy | +| OMIM:620094 | neurodevelopmental disorder with eye movement abnormalities and ataxia | +| OMIM:620075 | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | +| OMIM:301094 | neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | +| OMIM:620113 | neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | +| OMIM:619616 | neurodevelopmental disorder with hearing loss and spasticity | +| OMIM:619651 | neurodevelopmental disorder with hyperkinetic movements and dyskinesia | +| OMIM:619512 | neurodevelopmental disorder with hypotonia and brain abnormalities | +| OMIM:619503 | neurodevelopmental disorder with hypotonia and dysmorphic facies | +| OMIM:619639 | neurodevelopmental disorder with hypotonia and gross motor and speech delay | +| OMIM:620224 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | +| OMIM:620191 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | +| OMIM:619383 | neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | +| OMIM:619854 | neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | +| OMIM:620029 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | +| OMIM:619580 | neurodevelopmental disorder with impaired language and ataxia and with or without seizures | +| OMIM:619373 | neurodevelopmental disorder with infantile epileptic spasms | +| OMIM:619995 | neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | +| OMIM:620292 | neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | +| OMIM:619908 | neurodevelopmental disorder with language delay and seizures | +| OMIM:620066 | neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | +| OMIM:620038 | neurodevelopmental disorder with microcephaly, hypotonia, and absent language | +| OMIM:619876 | neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | +| OMIM:620023 | neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | +| OMIM:619685 | neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | +| OMIM:620027 | neurodevelopmental disorder with microcephaly, short stature, and speech delay | +| OMIM:619470 | neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | +| OMIM:619833 | neurodevelopmental disorder with neuromuscular and skeletal abnormalities | +| OMIM:619725 | neurodevelopmental disorder with or without variable movement or behavioral abnormalities | +| OMIM:620242 | neurodevelopmental disorder with poor growth and behavioral abnormalities | +| OMIM:619880 | neurodevelopmental disorder with poor growth and skeletal anomalies | +| OMIM:620194 | neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | +| OMIM:620071 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | +| OMIM:619517 | neurodevelopmental disorder with seizures and brain abnormalities | +| OMIM:619323 | neurodevelopmental disorder with seizures and gingival overgrowth | +| OMIM:620024 | neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | +| OMIM:620250 | neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | +| OMIM:619972 | neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | +| OMIM:620070 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | +| OMIM:619286 | neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | +| OMIM:620001 | neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | +| OMIM:619989 | neurodevelopmental disorder with speech delay and variable ocular anomalies | +| OMIM:620114 | neurodevelopmental disorder with speech impairment and with or without seizures | +| OMIM:619653 | neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | +| OMIM:619522 | neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | +| OMIM:620080 | neuronopathy, distal hereditary motor, iia 10 | +| OMIM:619539 | neuroocular syndrome | +| OMIM:620195 | obesity and hypopigmentation | +| OMIM:619318 | oculogastrointestinal neurodevelopmental syndrome | +| OMIM:619356 | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | +| OMIM:620154 | oocyte maturation defect 13 | +| OMIM:620276 | oocyte maturation defect 14 | +| OMIM:620107 | orofaciodigital syndrome 19 | +| OMIM:619377 | osteootohepatoenteric syndrome | +| OMIM:619884 | osteoporosis, childhood- or juvenile-onset, with developmental delay | +| OMIM:619873 | parenti-mignot neurodevelopmental syndrome | +| OMIM:619491 | parkinson disease 24, autosomal dominant, susceptibility to | +| OMIM:619903 | peripheral motor neuropathy, childhood-onset, biotin-responsive | +| OMIM:619859 | phosphoribosylaminoimidazole carboxylase deficiency | +| OMIM:620056 | polycystic kidney disease 7 | +| OMIM:619938 | premature ovarian failure 20 | +| OMIM:620005 | primordial dwarfism-immunodeficiency-lipodystrophy syndrome | +| OMIM:620125 | pseudohypoaldosteronism, iia ib2, autosomal recessive | +| OMIM:620126 | pseudohypoaldosteronism, iia ib3, autosomal recessive | +| OMIM:620155 | rabin-pappas syndrome | +| OMIM:619312 | radio-tartaglia syndrome | +| OMIM:179300 | radioulnar synostosis, nonsyndromic, susceptibility to | +| OMIM:619695 | rauch-steindl syndrome | +| OMIM:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | +| OMIM:619446 | retinal dystrophy and microvillus inclusion disease | +| OMIM:620102 | retinitis pigmentosa 95 | +| OMIM:620228 | retinitis pigmentosa 96 | +| OMIM:620235 | rhabdomyolysis, susceptibility to, 1 | +| OMIM:180295 | rhabdomyosarcoma, embryonal, 2 | +| OMIM:619598 | rhizomelic dysplasia, ain-naz iia | +| OMIM:181460 | schistosoma mansoni infection, susceptibility/resistance to | +| OMIM:620231 | short qt syndrome 7 | +| OMIM:619489 | short stature, dauber-argente iia | +| OMIM:619557 | short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | +| OMIM:619464 | sick sinus syndrome 4 | +| OMIM:620221 | spastic paraplegia 79a, autosomal dominant, with ataxia | +| OMIM:619966 | spastic paraplegia 87, autosomal recessive | +| OMIM:620106 | spastic paraplegia 88, autosomal dominant | +| OMIM:619937 | spermatogenic failure 74 | +| OMIM:619949 | spermatogenic failure 75 | +| OMIM:620084 | spermatogenic failure 76 | +| OMIM:620103 | spermatogenic failure 77 | +| OMIM:620170 | spermatogenic failure 78 | +| OMIM:620196 | spermatogenic failure 79 | +| OMIM:620222 | spermatogenic failure 80 | +| OMIM:620277 | spermatogenic failure 81 | +| OMIM:301099 | spermatogenic failure, x-linked, 5 | +| OMIM:301101 | spermatogenic failure, x-linked, 6 | +| OMIM:620011 | spinal muscular atrophy, distal, autosomal recessive, 6 | +| OMIM:620174 | spinocerebellar ataxia 27b, late-onset | +| OMIM:619806 | spinocerebellar ataxia 49 | +| OMIM:620158 | spinocerebellar ataxia 50 | +| OMIM:619862 | spinocerebellar ataxia, autosomal recessive 32 | +| OMIM:620208 | spinocerebellar ataxia, autosomal recessive 33 | +| OMIM:620022 | stickler syndrome, iia 6 | +| OMIM:301080 | systemic lupus erythematosus 17 | +| OMIM:619950 | tessadori-bicknell-van haaften neurodevelopmental syndrome 3 | +| OMIM:619951 | tessadori-bicknell-van haaften neurodevelopmental syndrome 4 | +| OMIM:301071 | thrombophilia, x-linked, due to factor 8 defect | +| OMIM:620198 | thyroid hormone metabolism, abnormal, 3 | +| OMIM:620173 | tooth agenesis, selective, 10 | +| OMIM:619975 | tumor predisposition syndrome 2 | +| OMIM:619467 | usmani-riazuddin syndrome, autosomal dominant | +| OMIM:619548 | usmani-riazuddin syndrome, autosomal recessive | +| OMIM:619501 | ventriculomegaly and arthrogryposis | +| OMIM:619400 | visceral leiomyopathy, african degenerative | +| OMIM:619350 | visceral myopathy 2 | +| OMIM:619472 | viss syndrome | +| OMIM:619947 | waardenburg syndrome, iia 2f | +| OMIM:619426 | white-kernohan syndrome | +| OMIM:619701 | yoon-bellen neurodevelopmental syndrome | +| OMIM:619648 | zaki syndrome | +| OMIMPS:117000 | | +| OMIMPS:136550 | | +| OMIMPS:142340 | | +| OMIMPS:146590 | | +| OMIMPS:149730 | | +| OMIMPS:167870 | | +| OMIMPS:212093 | | +| OMIMPS:213980 | | +| OMIMPS:226400 | | +| OMIMPS:232200 | | +| OMIMPS:254940 | | +| OMIMPS:256550 | | +| OMIMPS:267750 | | +| OMIMPS:300491 | | +| OMIMPS:601457 | | +| OMIMPS:607602 | | +| OMIMPS:614592 | | +| OMIMPS:616901 | | +| OMIMPS:619980 | | +| OMIMPS:620184 | | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index e1a0465e..273dca74 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -29,7 +29,6 @@ | Orphanet:498491 | Complete hemimelia | | Orphanet:306644 | Complication after organ transplantation | | Orphanet:617449 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | -| Orphanet:168486 | Congenital neuronal ceroid lipofuscinosis | | Orphanet:519333 | Congenital optic disc excavation | | Orphanet:522514 | Congenital optic disc excavation of genetic origin | | Orphanet:617910 | Conjunctival malignant melanoma | diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index 394ab252..d196e633 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/9bcef4c1-0c9c-4c3b-b47e-8b738ce0c482 +# mapping_set_id: https://w3id.org/sssom/mappings/7742495e-ba16-4c5d-a5cc-83c0b9b4eb59 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 8fef904b..583e9329 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/7087beb1-bc57-4207-8f31-dd240b7c33cf +# mapping_set_id: https://w3id.org/sssom/mappings/4eb4fca2-f4ed-4990-8341-ddae8756277d diff --git a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv index 03bffb0e..5b30225c 100644 --- a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv +++ b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv @@ -14,7 +14,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/5aa2889b-50b7-45fd-84fc-2a19206336dd +# mapping_set_id: https://w3id.org/sssom/mappings/810223fa-2848-40f1-b2b2-f81914cbcf56 # mapping_tool: oaklib # object_match_field: # - oio:hasDbXref @@ -25,29 +25,26 @@ # subject_preprocessing: # - semapv:RegularExpressionReplacement subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string subject_preprocessing object_preprocessing -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder +MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement -MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition MONDO:0000001 disease skos:exactMatch NCIT:C25457 Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label condition +MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition +MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement -MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C113211 Hypocortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocortisolemia +MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement MONDO:0000022 nocturnal enuresis skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bedwetting MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060873 MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch OMIM:147170 IGHD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ighd -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch OMIM:147170 IGHD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ighd -MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch OMIM:171820 SACP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acps MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266464 -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034013 -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058084 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044701 +MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 +MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 +MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034013 MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673913 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 @@ -56,137 +53,118 @@ MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:Lexical MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535441 MONDO:0000115 Chiari malformation skos:exactMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arnold-chiari malformation MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063361 +MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 -MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label icf syndrome -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850343 MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mva1 +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone marrow failure syndrome MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb1 -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 -MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIM:177061 MARCKS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mac -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neu-laxova syndrome MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 -MONDO:0000190 ventricular fibrillation skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vf -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zls1 -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laband syndrome MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616033 -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mssgm MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836694 MONDO:0000212 hypercalcemia, infantile skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercalcemia, idiopathic, of infancy MONDO:0000224 acquired carbohydrate metabolism disease skos:closeMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbohydrate metabolism disorder semapv:RegularExpressionReplacement -MONDO:0000248 dengue shock syndrome skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 MONDO:0000248 dengue shock syndrome skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376300 MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:closeMatch OMIM:124100 danubian endemic familial nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathia epidemica -MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperphosphatemia MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatemia +MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperphosphatemia MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028282 MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 +MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ullrich congenital muscular dystrophy MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ullrich congenital muscular dystrophy MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 -MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylocostal dysplasia -MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:604031 SCD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scd +MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym costovertebral dysplasia -MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:604031 SCD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd +MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylocostal dysplasia MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm -MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma +MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus squamous cell carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus mucoepidermoid carcinoma +MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenocarcinoma -MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus squamous cell carcinoma MONDO:0000390 vitelliform macular dystrophy skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339510 -MONDO:0000395 alcohol-related birth defect skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arbd MONDO:0000395 alcohol-related birth defect skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3146244 MONDO:0000397 ataxic cerebral palsy skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxic cerebral palsy -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fasd -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985290 -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome -MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects +MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985290 MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C92728 Alcohol Related Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol related neurodevelopmental disorder -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome MONDO:0000426 autosomal dominant disease skos:exactMatch NCIT:C98829 Autosomal Dominant Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant disorder semapv:RegularExpressionReplacement MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 -MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare ataxia -MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C82341 Spinocerebellar Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinocerebellar ataxia MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia +MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C82341 Spinocerebellar Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinocerebellar ataxia +MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare ataxia MONDO:0000440 metabolic acidosis skos:exactMatch NCIT:C28228 Metabolic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic acidosis +MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial short qt syndrome MONDO:0000455 cone dystrophy skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300085 MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label progressive cone dystrophy -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cds -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression -MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochoa syndrome -MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ochoa syndrome MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ochoa syndrome +MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochoa syndrome +MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 +MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 MONDO:0000463 Ochoa syndrome skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder -MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans -MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C35527 Familial Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dystonia -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:exactMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized isolated dystonia +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans +MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C35527 Familial Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dystonia MONDO:0000481 cervical dystonia skos:closeMatch NCIT:C85072 Spasmodic Torticollis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spasmodic torticollis MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid neuroskeletal syndrome MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833662 -MONDO:0000509 non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 -MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jejunal adenocarcinoma MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal adenocarcinoma +MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jejunal adenocarcinoma MONDO:0000543 ovarian melanoma skos:exactMatch NCIT:C178441 Ovarian Melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian melanoma MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000598 aphasia skos:exactMatch NCIT:C34393 Aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphasia MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gouty nephropathy, familial juvenile MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor MONDO:0000644 cervical benign neoplasm skos:narrowMatch ICD10CM:D26.0 Other benign neoplasm of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym benign neoplasm of cervix uteri semapv:RegularExpressionReplacement @@ -198,29 +176,28 @@ MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0000694 seasonal affective disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seasonal affective disorder MONDO:0000694 seasonal affective disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seasonal affective disorder -MONDO:0000700 familial hemiplegic migraine skos:exactMatch OMIM:141500 migraine, familial hemiplegic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhm MONDO:0000702 microscopic colitis skos:narrowMatch ICD10CM:K52.838 Other microscopic colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym microscopic colitis semapv:RegularExpressionReplacement MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection MONDO:0000709 Crohn ileitis skos:closeMatch NCIT:C84782 Ileitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileitis MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 -MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch NCIT:C75003 Synpolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly +MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch NCIT:C75003 Synpolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly MONDO:0000723 stutter disorder skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stammering -MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10WHO:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10CM:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005745 -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033377 +MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10WHO:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 +MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033377 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 -MONDO:0000734 Ohdo syndrome and variants skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome +MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005745 MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome +MONDO:0000734 Ohdo syndrome and variants skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306229 MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria -MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50479 Cardiac Arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50483 Cardiopulmonary Arrest semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiopulmonary arrest +MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50479 Cardiac Arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest MONDO:0000755 ectopic pregnancy skos:narrowMatch ICD10WHO:O00.8 Other ectopic pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ectopic pregnancy semapv:RegularExpressionReplacement MONDO:0000755 ectopic pregnancy skos:narrowMatch ICD10CM:O00.8 Other ectopic pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ectopic pregnancy semapv:RegularExpressionReplacement MONDO:0000766 corneal endothelial dystrophy skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal endothelial dystrophy @@ -229,99 +206,87 @@ MONDO:0000770 shellfish allergy skos:exactMatch NCIT:C172320 Shellfish Allergy s MONDO:0000778 fruit allergy skos:exactMatch NCIT:C172316 Fruit Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fruit allergy MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 -MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ccm MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral capillary malformations MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0000827 salmonellosis skos:exactMatch NCIT:C157974 Salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salmonellosis MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036117 MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039447 -MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C27083 Blood Clot semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blood clot -MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombotic disorder +MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement +MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C27083 Blood Clot semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blood clot MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016664 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msa MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C6919 T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t lymphoblastic lymphoma MONDO:0000888 gastrointestinal mucositis skos:closeMatch NCIT:C115965 Mucositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucositis +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with neuronopathy -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accpn MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonus-dystonia syndrome MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt11 +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonic dystonia +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonus-dystonia syndrome -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-dystonia syndrome +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-dystonia syndrome MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch NCIT:C176008 Familial Arrhythmogenic Right Ventricular Dysplasia 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 -MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch OMIM:312612 retinitis pigmentosa 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, x-linked recessive, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312612 -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb5 +MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch OMIM:312612 retinitis pigmentosa 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, x-linked recessive, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600792 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch OMIM:616649 spherocytosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616649 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cadasil -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 +MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch OMIM:616649 spherocytosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casil -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cadasil MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065551 -MONDO:0000922 pelvic inflammatory disease skos:exactMatch OMIM:603947 MTA2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pid -MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label venous insufficiency +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous insufficiency +MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label venous insufficiency MONDO:0000946 psychologic vaginismus skos:exactMatch NCIT:C35113 Psychogenic Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psychogenic vaginismus -MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder semapv:RegularExpressionReplacement MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder semapv:RegularExpressionReplacement MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 +MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis MONDO:0000995 familial periodic paralysis skos:closeMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis -MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym normokalemic periodic paralysis MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym normokalemic periodic paralysis MONDO:0001011 breast cyst skos:exactMatch NCIT:C5315 Breast Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cyst -MONDO:0001014 chronic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cll -MONDO:0001014 chronic leukemia skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cml -MONDO:0001014 chronic leukemia skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cml MONDO:0001029 Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-feil sequence MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 -MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 -MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal atresia +MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia +MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0001045 intestinal atresia skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301800 MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207500 +MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301800 MONDO:0001046 imperforate anus skos:closeMatch NCIT:C78173 Anal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal stenosis MONDO:0001048 orbital granuloma skos:exactMatch NCIT:C3653 Orbital Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital granuloma MONDO:0001056 gastric cancer skos:closeMatch OMIM:613659 gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cancer, intestinal MONDO:0001061 pylorus cancer skos:exactMatch NCIT:C188051 Malignant Pylorus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant pylorus neoplasm MONDO:0001071 intellectual disability skos:narrowMatch ICD10CM:F78 Other intellectual disabilities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym intellectual disabilities semapv:RegularExpressionReplacement MONDO:0001071 intellectual disability skos:closeMatch NCIT:C84392 Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephropathic cystinosis MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult fanconi syndrome -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi renotubular syndrome MONDO:0001095 mediastinum neuroblastoma skos:closeMatch NCIT:C6628 Mediastinal Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mediastinal neuroblastoma MONDO:0001103 giardiasis skos:closeMatch NCIT:C77213 Giardia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giardia @@ -333,29 +298,27 @@ MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malig MONDO:0001134 essential hypertension skos:exactMatch NCIT:C3478 Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential hypertension MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch NCIT:C3655 Middle Ear Cholesterol Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle ear cholesterol granuloma MONDO:0001142 salivary gland disorder skos:closeMatch NCIT:C27662 Non-Neoplastic Salivary Gland Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic salivary gland disorder semapv:RegularExpressionReplacement -MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10CM:H49.88 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10CM:H49.8 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10WHO:H49.8 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement +MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10CM:H49.88 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement MONDO:0001147 meningocele skos:closeMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinal meningocele -MONDO:0001150 hydrocephalus skos:narrowMatch ICD10CM:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement MONDO:0001150 hydrocephalus skos:narrowMatch ICD10WHO:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement MONDO:0001150 hydrocephalus skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydrocephalus, x-linked -MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign essential hypertension +MONDO:0001150 hydrocephalus skos:narrowMatch ICD10CM:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign essential hypertension +MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign essential hypertension MONDO:0001152 amnestic disorder skos:narrowMatch ICD10CM:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement -MONDO:0001152 amnestic disorder skos:exactMatch NCIT:C2867 Amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amnesia MONDO:0001152 amnestic disorder skos:narrowMatch ICD10WHO:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement -MONDO:0001156 borderline personality disorder skos:exactMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bpd -MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ocd +MONDO:0001152 amnestic disorder skos:exactMatch NCIT:C2867 Amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amnesia MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue disorder MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tongue disorder semapv:RegularExpressionReplacement MONDO:0001170 hemiplegia skos:exactMatch NCIT:C64329 Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia -MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C126462 Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess +MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis +MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001179 pinguecula skos:exactMatch NCIT:C129468 Pinguecula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinguecula MONDO:0001198 acquired thrombocytopenia skos:narrowMatch ICD10CM:D69.59 Other secondary thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0001200 secondary hypertension skos:narrowMatch ICD10CM:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement @@ -363,75 +326,73 @@ MONDO:0001200 secondary hypertension skos:exactMatch NCIT:C3657 Secondary Hypert MONDO:0001200 secondary hypertension skos:narrowMatch ICD10WHO:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enophthalmos -MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10CM:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10WHO:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement +MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10CM:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001216 pulp degeneration skos:exactMatch NCIT:C34962 Pulp Degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10WHO:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10CM:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NCIT:C131658 Consumptive Coagulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label consumptive coagulopathy MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flea-borne typhus -MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine typhus -MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label endemic typhus fever -MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 +MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus +MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine typhus MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334533 MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 +MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 MONDO:0001260 cercarial dermatitis skos:exactMatch NCIT:C34457 Cutaneous Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous schistosomiasis MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession MONDO:0001273 megacolon skos:narrowMatch ICD10CM:K59.39 Other megacolon semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym megacolon semapv:RegularExpressionReplacement MONDO:0001275 spinal meningioma skos:exactMatch NCIT:C5134 Spinal Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal meningioma -MONDO:0001280 choroiditis skos:closeMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis +MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008526 MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis -MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endosalpingiosis +MONDO:0001280 choroiditis skos:closeMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosalpingiosis +MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endosalpingiosis MONDO:0001292 autonomic nervous system disorder skos:closeMatch NCIT:C53439 Dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dysautonomia -MONDO:0001294 Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:narrowMatch ICD10CM:G90.09 Other idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic peripheral autonomic neuropathy semapv:RegularExpressionReplacement MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NCIT:C50888 Mitral Valve Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve insufficiency -MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001302 hypertensive heart disease skos:closeMatch NCIT:C4907 Hypertensive Cardiomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertensive cardiomegaly -MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10WHO:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10CM:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement +MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10WHO:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement MONDO:0001315 neurocirculatory asthenia skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurocirculatory asthenia MONDO:0001323 infant gynecomastia skos:exactMatch NCIT:C117312 Breast Engorgement in Newborn semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast engorgement in newborn -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid hormone resistance syndrome -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C131816 Generalized Thyroid Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized thyroid hormone resistance MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C131816 Generalized Thyroid Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized thyroid hormone resistance MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyroid stimulating hormone MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh resistance MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid hormone resistance syndrome MONDO:0001336 familial hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 MONDO:0001339 portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001383 degenerative myopia skos:exactMatch NCIT:C157149 Pathological Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pathological myopia +MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopia MONDO:0001384 myopia skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027092 -MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia MONDO:0001406 peripheral nervous system neoplasm skos:closeMatch NCIT:C4972 Nerve Sheath Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nerve sheath neoplasm -MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute esophagitis MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement +MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute esophagitis MONDO:0001414 osteopoikilosis skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata MONDO:0001422 primary aldosteronism skos:narrowMatch ICD10CM:E26.09 Other primary hyperaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0001441 pica disease skos:exactMatch NCIT:C71234 Pica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pica -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001935 MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041234 -MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcm +MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thygeson superficial punctate keratitis -MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutropenia -MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement +MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia +MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutropenia MONDO:0001476 coloboma skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym coloboma of macula MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula @@ -448,23 +409,20 @@ MONDO:0001556 urethral obstruction skos:exactMatch NCIT:C79804 Urethral Obstruct MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10CM:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10WHO:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyloric stenosis, infantile -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 +MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpsi -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NCIT:C61261 Hurler Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chorea, benign hereditary +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 +MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chorea, benign hereditary -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bhc +MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chorea, benign hereditary MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary progressive chorea without dementia -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bhc MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0001596 hypochondriasis skos:exactMatch NCIT:C9493 Hypochondriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondriasis @@ -474,11 +432,11 @@ MONDO:0001609 agranulocytosis skos:exactMatch NCIT:C107102 Agranulocytosis semap MONDO:0001625 corpus luteum cyst skos:exactMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst MONDO:0001639 deficiency anemia skos:closeMatch Orphanet:248293 Rare deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041782 MONDO:0001646 benign secondary hypertension skos:exactMatch NCIT:C3658 Benign Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign secondary hypertension -MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm MONDO:0001657 brain cancer skos:closeMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary brain neoplasm -MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement -MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement +MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm MONDO:0001658 nontoxic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym euthyroid goiter +MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement +MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 @@ -488,36 +446,34 @@ MONDO:0001703 color vision disorder skos:closeMatch NCIT:C3891 Color Blindness s MONDO:0001705 pure red-cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare constitutional aplastic anemia MONDO:0001713 inherited aplastic anemia skos:narrowMatch ICD10CM:D61.09 Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym constitutional aplastic anemia semapv:RegularExpressionReplacement -MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045138 +MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement +MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 -MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis complex -MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045138 MONDO:0001734 tuberous sclerosis skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex -MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:611585 TESC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsc -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001741 hyperparathyroidism skos:closeMatch Orphanet:181408 Rare hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020502 +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001744 angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angle closure glaucoma MONDO:0001751 cholestasis skos:exactMatch NCIT:C83006 Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis MONDO:0001776 prostate calculus skos:exactMatch NCIT:C26936 Prostatic Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic stone MONDO:0001793 excessive tearing skos:exactMatch NCIT:C50552 Excessive Tearing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label excessive tearing MONDO:0001802 acute tympanitis skos:narrowMatch ICD10CM:H73.09 Other acute myringitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute myringitis semapv:RegularExpressionReplacement MONDO:0001818 facial neuralgia skos:exactMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facial neuralgia -MONDO:0001823 sick sinus syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sss MONDO:0001823 sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012804 MONDO:0001823 sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012804 MONDO:0001833 lacrimal duct obstruction skos:exactMatch NCIT:C34757 Lacrimal Duct Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lacrimal duct obstruction MONDO:0001870 acute poststreptococcal glomerulonephritis skos:closeMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post-streptococcal glomerulonephritis MONDO:0001874 toxic labyrinthitis skos:closeMatch NCIT:C66929 Ototoxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ototoxicity MONDO:0001875 epicondylitis skos:exactMatch NCIT:C35067 Lateral Epicondylitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lateral epicondylitis -MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10WHO:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10CM:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement +MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10WHO:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001898 optic choroid disorder skos:closeMatch NCIT:C34468 Choroid Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid disorder semapv:RegularExpressionReplacement MONDO:0001901 selective IgG subclass deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency MONDO:0001901 selective IgG subclass deficiency skos:closeMatch NCIT:C27142 Selective IgG Immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label selective igg immunodeficiency @@ -525,43 +481,39 @@ MONDO:0001907 adult dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis MONDO:0001909 renal tubular acidosis skos:exactMatch NCIT:C28129 Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular acidosis MONDO:0001911 tracheal calcification skos:exactMatch NCIT:C35314 Tracheal Calcification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal calcification MONDO:0001913 oligospermia skos:exactMatch NCIT:C34860 Oligospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligospermia -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0001941 blindness (disorder) skos:closeMatch NCIT:C97109 Blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blindness -MONDO:0001942 generalized anxiety disorder skos:exactMatch OMIM:605363 GAD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gad MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030568 MONDO:0001952 parietal lobe cancer skos:closeMatch NCIT:C5573 Parietal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal lobe neoplasm MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyuria MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyuria +MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343084 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cls -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 -MONDO:0001956 capillary leak syndrome skos:exactMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cls MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016221 MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015634 +MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sphingomyelin lipidosis -MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary pulmonary hypertension -MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label opitz-kaveggia syndrome -MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome -MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum +MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keller syndrome MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fg syndrome +MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome MONDO:0002010 FG syndrome skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label opitz-kaveggia syndrome +MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum MONDO:0002012 methylmalonic acidemia skos:closeMatch NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency -MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lm +MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wadia-swami syndrome MONDO:0002021 gingival disorder skos:exactMatch NCIT:C173795 Gingival Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival disorder @@ -570,95 +522,92 @@ MONDO:0002037 pleural disorder skos:closeMatch NCIT:C27563 Non-Neoplastic Pleura MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma MONDO:0002039 cognitive disorder skos:closeMatch NCIT:C34870 Organic Mental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic mental disorder MONDO:0002041 fungal infectious disease skos:closeMatch NCIT:C3245 Fungal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fungal infection +MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcoholism -MONDO:0002046 alcohol abuse skos:closeMatch NCIT:C93040 Alcohol Dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence -MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcohol abuse -MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence +MONDO:0002046 alcohol abuse skos:closeMatch NCIT:C93040 Alcohol Dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence +MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002050 depressive disorder skos:exactMatch NCIT:C124639 Depression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label depression -MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis -MONDO:0002056 breast fibroadenoma skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fa -MONDO:0002056 breast fibroadenoma skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fa -MONDO:0002073 malignant pineal area germ cell neoplasm skos:closeMatch NCIT:C8712 Pineal Region Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal region germinoma +MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor -MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement -MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002073 malignant pineal area germ cell neoplasm skos:closeMatch NCIT:C8712 Pineal Region Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal region germinoma MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002081 musculoskeletal system disorder skos:closeMatch NCIT:C107377 Musculoskeletal Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label musculoskeletal disorder MONDO:0002087 peritoneum cancer skos:closeMatch NCIT:C3322 Peritoneal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peritoneal neoplasm -MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma +MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 MONDO:0002113 peritoneal carcinoma skos:closeMatch NCIT:C40022 Primary Peritoneal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma MONDO:0002113 peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma -MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossifying fibroma MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ossifying fibroma +MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossifying fibroma MONDO:0002125 status epilepticus skos:narrowMatch ICD10WHO:G41.8 Other status epilepticus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym status epilepticus semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urethral stricture +MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant skull neoplasm MONDO:0002135 optic nerve disorder skos:exactMatch NCIT:C118711 Optic Neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic neuropathy -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051677 MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025552 MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051677 -MONDO:0002143 vaginal yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor +MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051677 MONDO:0002143 vaginal yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor +MONDO:0002143 vaginal yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C45908 Intersex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intersex MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070597 -MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35578 Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acalculous cholecystitis MONDO:0002155 cholecystitis skos:narrowMatch ICD10WHO:K81.8 Other cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholecystitis semapv:RegularExpressionReplacement +MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35152 Acute Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute cholecystitis -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153579 MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025915 +MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153579 MONDO:0002169 rectum adenocarcinoma skos:closeMatch NCIT:C48222 Read semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label read MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm MONDO:0002177 hyperinsulinism skos:exactMatch NCIT:C113104 Hyperinsulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperinsulinemia MONDO:0002181 exostosis skos:exactMatch NCIT:C139151 Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte MONDO:0002203 constipation disorder skos:narrowMatch ICD10CM:K59.09 Other constipation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym constipation semapv:RegularExpressionReplacement -MONDO:0002211 B cell deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deficiency MONDO:0002211 B cell deficiency skos:closeMatch NCIT:C27141 Immunoglobulin Heavy Chain Deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deletion +MONDO:0002211 B cell deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deficiency MONDO:0002218 temporal lobe cancer skos:closeMatch NCIT:C5567 Temporal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temporal lobe neoplasm MONDO:0002241 factor XIII deficiency skos:exactMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor xiii deficiency -MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002244 factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015503 -MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor vii deficiency MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor vii deficiency +MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor vii deficiency +MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002249 thrombocytosis disease skos:closeMatch NCIT:C35530 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis -MONDO:0002251 hepatitis skos:closeMatch NCIT:C82978 Chronic Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic hepatitis MONDO:0002251 hepatitis skos:closeMatch NCIT:C35331 Acute Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatitis -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement +MONDO:0002251 hepatitis skos:closeMatch NCIT:C82978 Chronic Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic hepatitis MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement -MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosis +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis +MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosis MONDO:0002258 pharyngitis skos:exactMatch NCIT:C50747 Sore Throat semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sore throat MONDO:0002258 pharyngitis skos:closeMatch NCIT:C34355 Acute Pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pharyngitis MONDO:0002260 hidradenitis skos:exactMatch NCIT:C112190 Hidradenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis -MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma +MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma MONDO:0002278 benign colon neoplasm skos:exactMatch NCIT:C37904 Colonic Mass semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colonic mass MONDO:0002287 glandular cystitis skos:closeMatch NCIT:C39860 Cystitis Glandularis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystitis glandularis MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154841 -MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.6 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.69 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002305 thrombophilia skos:narrowMatch ICD10WHO:D68.6 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement -MONDO:0002308 giant papillary conjunctivitis skos:closeMatch OMIM:110750 GYPC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpc +MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.6 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic inflammatory demyelinating polyneuropathy MONDO:0002341 granulomatous angiitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0002341 granulomatous angiitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 @@ -666,61 +615,56 @@ MONDO:0002350 familial nephrotic syndrome skos:exactMatch Orphanet:564127 Geneti MONDO:0002356 pancreas disorder skos:closeMatch NCIT:C26842 Pancreatic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic disorder semapv:RegularExpressionReplacement MONDO:0002368 papillary serous cystadenocarcinoma skos:closeMatch NCIT:C6882 Micropapillary Serous Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label micropapillary serous carcinoma MONDO:0002370 ovarian Brenner tumor skos:closeMatch NCIT:C4746 Benign Ovarian Brenner Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign ovarian brenner tumor -MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 +MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0002378 dermoid cyst skos:exactMatch NCIT:C25723 Dermoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermoid MONDO:0002380 myoepithelial tumor skos:closeMatch NCIT:C7442 Benign Myoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign myoepithelioma -MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch OMIM:601029 MEST semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mest -MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch OMIM:601029 MEST semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mest MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lias MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lias MONDO:0002405 hepatic vascular disorder skos:closeMatch Orphanet:101938 Rare vascular liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0400923 MONDO:0002406 dermatitis skos:narrowMatch ICD10WHO:L30 Other dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatitis semapv:RegularExpressionReplacement MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile hemangioma +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 -MONDO:0002412 disorder of glycogen metabolism skos:exactMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018464 -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367554 +MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 +MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2350236 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipf MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jlns1 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruxism MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bruxism -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265241 -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265241 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tay syndrome MONDO:0002473 cystic kidney disease skos:exactMatch NCIT:C3970 Kidney Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney cyst @@ -730,106 +674,99 @@ MONDO:0002476 anuria skos:exactMatch NCIT:C114699 Anuria semapv:LexicalMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:closeMatch NCIT:C158912 Prostate Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostate neuroendocrine carcinoma MONDO:0002479 Sertoli-Leydig cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C175610 Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast neuroendocrine tumor -MONDO:0002490 breast sarcoma skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbs MONDO:0002491 substance abuse skos:exactMatch NCIT:C18272 Substance Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label substance abuse -MONDO:0002492 acute kidney failure skos:narrowMatch ICD10WHO:N17.8 Other acute renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute renal failure semapv:RegularExpressionReplacement MONDO:0002492 acute kidney failure skos:narrowMatch ICD10CM:N17.8 Other acute kidney failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute kidney failure semapv:RegularExpressionReplacement +MONDO:0002492 acute kidney failure skos:narrowMatch ICD10WHO:N17.8 Other acute renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute renal failure semapv:RegularExpressionReplacement MONDO:0002508 gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic gingivitis MONDO:0002512 papillary adenocarcinoma skos:closeMatch NCIT:C7438 Infiltrating Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating papillary adenocarcinoma MONDO:0002519 anus disorder skos:closeMatch NCIT:C79536 Anal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal ulcer -MONDO:0002520 hepatic porphyria skos:closeMatch NCIT:C133887 Acute Hepatic Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria -MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alad deficiency -MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency +MONDO:0002520 hepatic porphyria skos:closeMatch NCIT:C133887 Acute Hepatic Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porphobilinogen synthase deficiency -MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor +MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency +MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alad deficiency MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tenosynovial giant cell tumor -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061227 +MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154251 +MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061227 MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch NCIT:C117115 Fatty Acid Metabolism Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatty acid metabolism disorder MONDO:0002531 skin neoplasm skos:closeMatch NCIT:C12470 Skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin MONDO:0002533 papillary adenoma skos:closeMatch NCIT:C6880 Glandular Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glandular papilloma MONDO:0002543 adult oligodendroglioma skos:closeMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult brain oligodendroglioma -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029235 MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027809 +MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 MONDO:0002552 vascular myelopathy skos:narrowMatch ICD10CM:G95.19 Other vascular myelopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular myelopathies semapv:RegularExpressionReplacement MONDO:0002565 myelitis skos:narrowMatch ICD10CM:G04.89 Other myelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myelitis semapv:RegularExpressionReplacement MONDO:0002568 tracheal stenosis skos:exactMatch NCIT:C78646 Tracheal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal stenosis -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036685 +MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 MONDO:0002572 aspiration pneumonitis skos:closeMatch NCIT:C35316 Chemical Pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chemical pneumonitis MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266091 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 -MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 +MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 -MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purpura MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purpura -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259500 +MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purpura MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031291 -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259500 MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma of the penis +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002653 Paget disease of the penis skos:exactMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile adenocarcinoma +MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma of the penis MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002675 neurofibrosarcoma skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibrosarcoma +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral infarction -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral infarction -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch OMIM:171790 ACPP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acpp -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch OMIM:171790 ACPP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acpp +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266176 MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label superior mesenteric artery syndrome -MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome +MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome MONDO:0002688 duodenal obstruction skos:exactMatch NCIT:C79548 Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction -MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer -MONDO:0002691 liver cancer skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer +MONDO:0002691 liver cancer skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 +MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer MONDO:0002696 Sertoli cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:424500 MONDO:0002720 sella turcica neoplasm skos:closeMatch OMIM:607912 SELENOT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selt MONDO:0002724 mast cell neoplasm skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334664 MONDO:0002726 cutaneous solitary mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 MONDO:0002726 cutaneous solitary mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206743 +MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdoid tumor +MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdoid tumor MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018335 +MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206743 MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018335 -MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdoid tumor -MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdoid tumor MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10CM:H65.19 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10WHO:H65.1 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10CM:H65.1 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051938 -MONDO:0002754 extramedullary plasmacytoma skos:closeMatch OMIM:133170 EPO semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ep MONDO:0002769 leukorrhea skos:exactMatch NCIT:C34775 Leukorrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukorrhea MONDO:0002770 vaginal discharge skos:exactMatch NCIT:C173179 Vaginal Discharge semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal discharge MONDO:0002775 anovulation skos:exactMatch NCIT:C34388 Anovulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anovulation MONDO:0002782 cranial nerve palsy skos:closeMatch NCIT:C182261 Other Cranial Nerve Palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym cranial nerve palsies semapv:RegularExpressionReplacement MONDO:0002786 diencephalic cancer skos:closeMatch NCIT:C5125 Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diencephalic neoplasm -MONDO:0002803 intestinal pseudo-obstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 MONDO:0002804 apocrine adenoma skos:closeMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tubular apocrine adenoma MONDO:0002805 hidradenoma skos:closeMatch NCIT:C7560 Sweat Gland Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sweat gland adenoma -MONDO:0002808 pancreatic serous cystadenoma skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psc -MONDO:0002808 pancreatic serous cystadenoma skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psc MONDO:0002815 acute myocarditis skos:narrowMatch ICD10CM:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement MONDO:0002815 acute myocarditis skos:narrowMatch ICD10WHO:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement MONDO:0002822 trabecular adenocarcinoma skos:closeMatch NCIT:C9231 Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label merkel cell carcinoma MONDO:0002822 trabecular adenocarcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merkel cell carcinoma MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:closeMatch NCIT:C68611 Sinonasal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sinonasal squamous cell carcinoma -MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma +MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C135212 Colon Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colon neuroendocrine tumor @@ -841,11 +778,10 @@ MONDO:0002904 echolalia skos:exactMatch NCIT:C97166 Echolalia semapv:LexicalMatc MONDO:0002909 hyperglycemia skos:exactMatch NCIT:C26797 Hyperglycemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperglycemia MONDO:0002914 childhood brain stem neoplasm skos:exactMatch NCIT:C4869 Brain Stem Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain stem neoplasm MONDO:0002917 disorder of pilosebaceous unit skos:closeMatch NCIT:C34656 Hair Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hair disorder semapv:RegularExpressionReplacement -MONDO:0002918 clear cell meningioma skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccm MONDO:0002921 congenital structural myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label centronuclear myopathy MONDO:0002926 clear cell sarcoma skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 -MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor MONDO:0002954 superficial multifocal basal cell carcinoma skos:closeMatch NCIT:C62284 Superficial Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label superficial basal cell carcinoma MONDO:0002965 parovarian cyst skos:closeMatch NCIT:C97063 Paratubal Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratubal cyst MONDO:0002968 lymphocele skos:exactMatch NCIT:C78442 Lymphocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocele @@ -853,19 +789,13 @@ MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non- MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0002999 central nervous system germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system MONDO:0002999 central nervous system germinoma skos:closeMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial germinoma -MONDO:0003001 seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seminoma -MONDO:0003001 seminoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0003001 seminoma skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma -MONDO:0003001 seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0003001 seminoma skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0003001 seminoma skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0003004 macular degeneration skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macular degeneration -MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement -MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.89 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10WHO:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement +MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism +MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.89 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential MONDO:0003019 potassium deficiency disease skos:closeMatch NCIT:C34939 Potassium Deficiency Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label potassium deficiency disorder @@ -874,8 +804,8 @@ MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:LexicalM MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysgraphia MONDO:0003039 nominal aphasia skos:exactMatch NCIT:C34386 Anomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anomia MONDO:0003040 retrograde amnesia skos:exactMatch NCIT:C34372 Retrograde Amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia -MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer +MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:101941 Rare biliary tract disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 MONDO:0003085 keratitis skos:narrowMatch ICD10CM:H16.8 Other keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratitis semapv:RegularExpressionReplacement @@ -883,8 +813,8 @@ MONDO:0003085 keratitis skos:narrowMatch ICD10WHO:H16.8 Other keratitis semapv:L MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of stomach MONDO:0003117 somatoform disorder skos:closeMatch NCIT:C35186 Physiological Malfunction Arising from Mental Factor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label physiological malfunction arising from mental factor MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed germ cell tumor -MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch NCIT:C6347 Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular mixed germ cell tumor MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch NCIT:C4290 Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed germ cell tumor +MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch NCIT:C6347 Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular mixed germ cell tumor MONDO:0003130 mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018201 MONDO:0003130 mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018201 MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C2874 Angiokeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma @@ -895,34 +825,23 @@ MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch Orphanet:213557 Sa MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym salivary gland type carcinoma of the breast MONDO:0003195 peritoneal serous adenocarcinoma skos:closeMatch NCIT:C40023 Primary Peritoneal Serous Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal serous adenocarcinoma MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278803 -MONDO:0003218 adenocarcinoma in situ skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ais -MONDO:0003218 adenocarcinoma in situ skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ais MONDO:0003220 gallbladder carcinoma skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 MONDO:0003227 prosopagnosia skos:exactMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym face blindness MONDO:0003233 essential tremor skos:exactMatch NCIT:C182453 Essential Tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential tremor MONDO:0003240 thyroid gland disorder skos:closeMatch Orphanet:101955 Rare thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040128 MONDO:0003261 papillary meningioma of the cerebellum skos:closeMatch NCIT:C5270 Cerebellar Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar papillary meningioma MONDO:0003262 rhabdoid meningioma skos:closeMatch NCIT:C3904 Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillary meningioma -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cyst -MONDO:0003282 ovarian cyst skos:closeMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus luteum cyst MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian cyst +MONDO:0003282 ovarian cyst skos:closeMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus luteum cyst +MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cyst MONDO:0003307 multiple mucosal neuroma skos:closeMatch NCIT:C6559 Multiple Mucosal Neuromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mucosal neuromas MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleural mesothelioma MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma MONDO:0003319 scrotum neoplasm skos:closeMatch NCIT:C3560 Malignant Scrotal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant scrotal neoplasm -MONDO:0003321 hereditary Wilms tumor skos:closeMatch OMIM:607102 WT1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym wt1 -MONDO:0003321 hereditary Wilms tumor skos:closeMatch OMIM:607102 WT1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label wt1 -MONDO:0003321 hereditary Wilms tumor skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym wt1 MONDO:0003330 urinary tract obstruction skos:exactMatch NCIT:C79805 Urinary Tract Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract obstruction MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206702 +MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0920305 @@ -932,49 +851,47 @@ MONDO:0003402 testicular yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tu MONDO:0003402 testicular yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 -MONDO:0003406 sleep-wake disorder skos:closeMatch NCIT:C3376 Sleep Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sleep disorder MONDO:0003406 sleep-wake disorder skos:closeMatch OMIM:612975 short sleep, familial natural, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short sleep phenotype -MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oncocytoma +MONDO:0003406 sleep-wake disorder skos:closeMatch NCIT:C3376 Sleep Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sleep disorder MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oncocytoma +MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oncocytoma MONDO:0003425 ophthalmoplegia skos:exactMatch NCIT:C79697 Ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmoplegia MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854486 -MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement -MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement +MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement +MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003441 dystonic disorder skos:narrowMatch ICD10WHO:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement MONDO:0003441 dystonic disorder skos:narrowMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma with squamous metaplasia MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch NCIT:C27084 Spindle Cell Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spindle cell squamous cell carcinoma MONDO:0003504 anal canal neuroendocrine neoplasm skos:closeMatch NCIT:C96540 Anal Canal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal canal neuroendocrine tumor MONDO:0003508 choriocarcinoma of testis skos:closeMatch NCIT:C2948 Choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choriocarcinoma -MONDO:0003519 malignant syringoma skos:closeMatch OMIM:177061 MARCKS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mac -MONDO:0003519 malignant syringoma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mac MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrinoma MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NCIT:C65188 Malignant Gastrinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant gastrinoma MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 -MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma -MONDO:0003531 papillary eccrine carcinoma skos:closeMatch NCIT:C27534 Digital Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital papillary adenocarcinoma MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary eccrine adenoma +MONDO:0003531 papillary eccrine carcinoma skos:closeMatch NCIT:C27534 Digital Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital papillary adenocarcinoma +MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma MONDO:0003532 breast papillary carcinoma skos:closeMatch NCIT:C6870 Breast Solid Papillary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label breast solid papillary carcinoma MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym precursor lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C3183 T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t acute lymphoblastic leukemia MONDO:0003540 acute T cell leukemia skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 MONDO:0003544 spinal cord cancer skos:closeMatch NCIT:C168693 Spinal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal neoplasm -MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma +MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0677776 -MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder -MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder semapv:RegularExpressionReplacement MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual cortex disorder +MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder semapv:RegularExpressionReplacement +MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder MONDO:0003604 functioning pituitary gland neoplasm skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma MONDO:0003608 optic atrophy skos:narrowMatch ICD10CM:H47.29 Other optic atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym optic atrophy semapv:RegularExpressionReplacement MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:closeMatch NCIT:C155952 Uterine Ligament Papillary Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterine ligament papillary cystadenoma MONDO:0003620 peripheral nervous system disorder skos:closeMatch NCIT:C119734 Peripheral Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label peripheral neuropathy MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335315 -MONDO:0003634 proteinuria skos:exactMatch NCIT:C38012 Proteinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteinuria MONDO:0003634 proteinuria skos:narrowMatch ICD10CM:R80.8 Other proteinuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym proteinuria semapv:RegularExpressionReplacement +MONDO:0003634 proteinuria skos:exactMatch NCIT:C38012 Proteinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteinuria MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm MONDO:0003652 acute urate nephropathy skos:exactMatch NCIT:C123245 Uric Acid Urolithiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uric acid urolithiasis MONDO:0003655 cerebral lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 @@ -988,102 +905,88 @@ MONDO:0003735 central nervous system immature teratoma skos:closeMatch NCIT:C428 MONDO:0003749 esophageal disorder skos:closeMatch NCIT:C26950 Esophageal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal ulcer MONDO:0003761 leptomeningeal melanoma skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant melanoma of meninges MONDO:0003766 thalamic cancer skos:closeMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thalamic neoplasm -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency -MONDO:0003778 inborn error of immunity skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome -MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency disorder semapv:RegularExpressionReplacement +MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immune deficiency disorder semapv:RegularExpressionReplacement -MONDO:0003781 bronchitis skos:closeMatch NCIT:C26932 Acute Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute bronchitis +MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency disorder semapv:RegularExpressionReplacement +MONDO:0003778 inborn error of immunity skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome MONDO:0003781 bronchitis skos:closeMatch NCIT:C26722 Chronic Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic bronchitis -MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphopenia +MONDO:0003781 bronchitis skos:closeMatch NCIT:C26932 Acute Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute bronchitis MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphopenia +MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphopenia MONDO:0003787 childhood testicular mixed germ cell cancer skos:closeMatch NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood testicular mixed germ cell tumor MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605074 MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0879257 -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392998 MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed müllerian tumor of the ovary -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392998 MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement MONDO:0003805 malignant pericardial mesothelioma skos:closeMatch NCIT:C7632 Pericardial Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pericardial mesothelioma -MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch OMIM:173370 PLAT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plat -MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch OMIM:173370 PLAT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plat MONDO:0003820 mature ovarian teratoma skos:closeMatch NCIT:C9015 Mature Teratoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mature teratoma MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh-oma MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym thyrotroph adenoma MONDO:0003878 malignant choroid melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346388 MONDO:0003878 malignant choroid melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal melanoma MONDO:0003892 acinar lung adenocarcinoma skos:closeMatch NCIT:C5649 Lung Acinar Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung acinar adenocarcinoma -MONDO:0003917 heart lymphoma skos:exactMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcl -MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9089 Small Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label small size posterior uveal melanoma MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9090 Medium/Large Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label medium/large size posterior uveal melanoma +MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9089 Small Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label small size posterior uveal melanoma MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 -MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome MONDO:0003947 hyper-IgM syndrome skos:closeMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperimmunoglobulin m syndrome +MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch NCIT:C7012 Central Nervous System Choriocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system choriocarcinoma MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch NCIT:C7752 Angiokeratoma of Fordyce semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma of fordyce +MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva -MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fop -MONDO:0003964 myositis ossificans skos:exactMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fop -MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0003987 lung lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0003989 polyembryoma of the ovary skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyembryoma -MONDO:0004008 flat ductal epithelial atypia skos:exactMatch OMIM:137010 FEA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fea -MONDO:0004008 flat ductal epithelial atypia skos:exactMatch OMIM:137010 FEA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fea MONDO:0004026 skin tag skos:closeMatch NCIT:C3337 Fibroepithelial Polyp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibroepithelial polyp MONDO:0004035 glomangiomatosis skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomangiomatosis MONDO:0004041 urothelial papilloma skos:closeMatch OMIM:191840 PLAU semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upa -MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 +MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 +MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome MONDO:0004063 intermediate cell type iris melanoma skos:closeMatch NCIT:C174506 Iris Mixed Cell Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris mixed cell melanoma -MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma +MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028361 MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028361 MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intramuscular lipoma MONDO:0004094 multiple skull base meningioma skos:closeMatch NCIT:C5279 Multiple Skull Base Meningiomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple skull base meningiomas MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell carcinoma of the bladder MONDO:0004127 lung occult adenocarcinoma skos:closeMatch NCIT:C6699 Occult Lung Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label occult lung adenocarcinoma -MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cloacogenic carcinoma MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cloacogenic carcinoma +MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cloacogenic carcinoma MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch NCIT:C7010 Central Nervous System Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system embryonal carcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0004201 pituitary hypoplasia skos:closeMatch NCIT:C27343 Pituitary Gland Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary gland hypoplasia MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:closeMatch NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular yolk sac tumor, polyvesicular vitelline pattern -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleomorphic rhabdomyosarcoma MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C4258 Pleomorphic Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleomorphic rhabdomyosarcoma +MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleomorphic rhabdomyosarcoma MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic lymphoproliferative disorder of natural killer cells MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031130 MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain ependymoma MONDO:0004253 intraductal breast papillomatosis skos:closeMatch NCIT:C5201 Breast Intraductal Papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast intraductal papillomatosis MONDO:0004255 Wolffian adnexal tumor skos:closeMatch NCIT:C40141 Wolffian Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolffian tumor MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system mixed germ cell tumor -MONDO:0004277 gonorrhea skos:exactMatch OMIM:139200 GC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gc -MONDO:0004277 gonorrhea skos:exactMatch OMIM:139200 GC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gc -MONDO:0004277 gonorrhea skos:closeMatch OMIM:618427 PACC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pac MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335304 -MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ipmn MONDO:0004288 scirrhous breast carcinoma skos:closeMatch NCIT:C7362 Breast Scirrhous Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast scirrhous carcinoma -MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch OMIM:153310 CLC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clc -MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch OMIM:153310 CLC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clc -MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch OMIM:607672 CLCF1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clc MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning neuroendocrine tumor of pancreas MONDO:0004380 dendritic cell sarcoma skos:closeMatch NCIT:C9281 Follicular Dendritic Cell Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma MONDO:0004380 dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma @@ -1094,8 +997,8 @@ MONDO:0004512 meningeal melanomatosis skos:closeMatch Orphanet:252031 Diffuse le MONDO:0004522 peritonitis skos:narrowMatch ICD10CM:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004522 peritonitis skos:narrowMatch ICD10WHO:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm -MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor +MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glassy cell carcinoma of the cervix uteri MONDO:0004565 intestinal obstruction skos:narrowMatch ICD10CM:K56.69 Other intestinal obstruction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intestinal obstruction semapv:RegularExpressionReplacement MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal volvulus @@ -1106,11 +1009,11 @@ MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:L MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios MONDO:0004587 hereditary night blindness skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0004587 hereditary night blindness skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 -MONDO:0004588 night blindness skos:exactMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nyctalopia MONDO:0004588 night blindness skos:narrowMatch ICD10CM:H53.69 Other night blindness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym night blindness semapv:RegularExpressionReplacement +MONDO:0004588 night blindness skos:exactMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nyctalopia MONDO:0004592 impetigo skos:narrowMatch ICD10CM:L01.09 Other impetigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym impetigo semapv:RegularExpressionReplacement -MONDO:0004596 cor pulmonale skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor pulmonale MONDO:0004596 cor pulmonale skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor pulmonale +MONDO:0004596 cor pulmonale skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor pulmonale MONDO:0004597 pulmonary embolism and infarction skos:closeMatch NCIT:C50714 Pulmonary Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary infarction MONDO:0004600 monocytic leukemia skos:narrowMatch ICD10CM:C93.Z Other monocytic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym monocytic leukemia semapv:RegularExpressionReplacement MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020231 @@ -1118,36 +1021,36 @@ MONDO:0004608 oropharynx cancer skos:closeMatch NCIT:C9105 Oropharyngeal Carcino MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma -MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vein disorder semapv:RegularExpressionReplacement MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vein disorder -MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement +MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vein disorder semapv:RegularExpressionReplacement MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement -MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement +MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement +MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement MONDO:0004652 bacterial pneumonia skos:narrowMatch ICD10WHO:J15.8 Other bacterial pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial pneumonia semapv:RegularExpressionReplacement MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054651 MONDO:0004658 breast carcinoma in situ skos:narrowMatch ICD10WHO:D05.7 Other carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym carcinoma in situ of breast semapv:RegularExpressionReplacement MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement -MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.49 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10WHO:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 +MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.49 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 +MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C12230 Hard Palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hard palate MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm MONDO:0004726 liver inflammatory myofibroblastic tumor skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory pseudotumor of the liver -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116046 Central Sleep Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central sleep apnea -MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116335 Central Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central apnea -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116335 Central Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central apnea MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome MONDO:0004737 homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cbs deficiency MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of urea cycle metabolism and ammonia detoxification -MONDO:0004745 priapism skos:exactMatch NCIT:C85022 Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism MONDO:0004745 priapism skos:narrowMatch ICD10CM:N48.39 Other priapism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym priapism semapv:RegularExpressionReplacement +MONDO:0004745 priapism skos:exactMatch NCIT:C85022 Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism MONDO:0004753 mechanical strabismus skos:narrowMatch ICD10CM:H50.69 Other mechanical strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mechanical strabismus semapv:RegularExpressionReplacement MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rectal prolapse MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal prolapse @@ -1155,29 +1058,29 @@ MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatchin MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scotoma MONDO:0004768 keratoconjunctivitis skos:narrowMatch ICD10CM:H16.29 Other keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratoconjunctivitis semapv:RegularExpressionReplacement MONDO:0004770 exophthalmos skos:exactMatch NCIT:C87114 Proptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proptosis -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement -MONDO:0004773 iridocyclitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022073 -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis +MONDO:0004773 iridocyclitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022073 MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 MONDO:0004785 blepharitis skos:narrowMatch ICD10WHO:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement MONDO:0004785 blepharitis skos:narrowMatch ICD10CM:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement -MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement +MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement MONDO:0004790 fatty liver disease skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steatosis of liver -MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label otitis externa -MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004796 infectious meningitis skos:closeMatch NCIT:C26828 Meningitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningitis MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic eosinophilic pneumonia MONDO:0004815 osteosclerotic plasma cell myeloma skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerotic myeloma @@ -1187,9 +1090,9 @@ MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10WHO:N21.8 Other MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10CM:N21.8 Other lower urinary tract calculus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lower urinary tract calculus semapv:RegularExpressionReplacement MONDO:0004842 stomatitis skos:narrowMatch ICD10CM:K12.39 Other oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym oral mucositis semapv:RegularExpressionReplacement MONDO:0004845 aphthous stomatitis skos:closeMatch NCIT:C62546 Canker Sore semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label canker sore -MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8X Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004846 placental abruption skos:narrowMatch ICD10WHO:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement +MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8X Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004847 senile cataract skos:narrowMatch ICD10WHO:H25.8 Other senile cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym senile cataract semapv:RegularExpressionReplacement MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10WHO:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10CM:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement @@ -1197,368 +1100,322 @@ MONDO:0004854 ophthalmia neonatorum skos:closeMatch NCIT:C116816 Gonococcal Opht MONDO:0004872 hemorrhoid skos:narrowMatch ICD10CM:K64.8 Other hemorrhoids semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemorrhoids semapv:RegularExpressionReplacement MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215500 MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis MONDO:0004890 partial central choroid dystrophy skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal dystrophy, central areolar -MONDO:0004890 partial central choroid dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613105 MONDO:0004892 refractive error skos:exactMatch NCIT:C87145 Refractive Error semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractive error -MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10WHO:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement +MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002170 -MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve prolapse syndrome MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym floppy mitral valve +MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve prolapse syndrome MONDO:0004911 cardiovascular syphilis skos:narrowMatch ICD10CM:A52.09 Other cardiovascular syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cardiovascular syphilis semapv:RegularExpressionReplacement -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome -MONDO:0004920 hydrocele skos:narrowMatch ICD10WHO:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement +MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome MONDO:0004920 hydrocele skos:narrowMatch ICD10CM:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement +MONDO:0004920 hydrocele skos:narrowMatch ICD10WHO:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement MONDO:0004926 dacryocystitis skos:closeMatch NCIT:C26971 Dacryoadenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dacryoadenitis MONDO:0004927 dacryocystocele skos:exactMatch NCIT:C98968 Lacrimal Mucocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimal mucocele MONDO:0004927 dacryocystocele skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dacryocystocele -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hlhs +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0004946 hypoglycemia skos:narrowMatch ICD10WHO:E16.1 Other hypoglycaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypoglycaemia semapv:RegularExpressionReplacement MONDO:0004946 hypoglycemia skos:narrowMatch ICD10CM:E16.1 Other hypoglycemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoglycemia semapv:RegularExpressionReplacement MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0855095 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphatic MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic lymphocytic MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphatic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma MONDO:0004950 gastric carcinoma skos:closeMatch Orphanet:423771 Rare carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699791 -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, resistance to -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, susceptibility to MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired immunodeficiency syndrome, progression to -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, susceptibility to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, resistance to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004952 Hodgkins lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:613898 HMGCL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hl +MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 +MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959632 MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-all -MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement +MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label erosive gastritis -MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym all -MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch NCIT:C64916 All semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label all -MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C3680 Cribriform Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cribriform carcinoma MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C27094 Cylindroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindroma +MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C3680 Cribriform Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cribriform carcinoma MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acinar cell adenoma -MONDO:0004974 adrenal gland pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile and senile dementia -MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002736 -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 +MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020981 +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002736 MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002449 +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020981 MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.998 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement -MONDO:0004979 asthma skos:closeMatch NCIT:C26976 Chronic Obstructive Asthma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic obstructive asthma MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.99 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement -MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement -MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.89 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement +MONDO:0004979 asthma skos:closeMatch NCIT:C26976 Chronic Obstructive Asthma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic obstructive asthma MONDO:0004980 atopic eczema skos:exactMatch NCIT:C37910 Allergic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic +MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.89 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement +MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement MONDO:0004980 atopic eczema skos:narrowMatch ICD10WHO:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement -MONDO:0004981 atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 -MONDO:0004981 atrial fibrillation skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 -MONDO:0004981 atrial fibrillation skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0004981 atrial fibrillation skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0004981 atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34424 Bipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bipolar depression +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34424 Bipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bipolar depression +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004989 breast carcinoma skos:closeMatch Orphanet:180257 Rare malignant breast tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0678222 -MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym luminal breast cancer MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym breast tumor luminal +MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym luminal breast cancer MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007636 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878544 -MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10CM:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement +MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch NCIT:C62180 Cold semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cold -MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd MONDO:0005003 chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatitis, chronic -MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10CM:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10WHO:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement +MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10CM:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0005010 coronary artery disorder skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cad -MONDO:0005010 coronary artery disorder skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cad -MONDO:0005010 coronary artery disorder skos:exactMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cad -MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym regional enteritis MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005011 Crohn disease skos:exactMatch NCIT:C37262 Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613972 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613099 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608035 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615848 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609048 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615134 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 -MONDO:0005012 cutaneous melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym regional enteritis MONDO:0005015 diabetes mellitus skos:closeMatch Orphanet:101952 Rare diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011849 -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007193 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 +MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007193 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dilated cardiomyopathy +MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 MONDO:0005023 ductal breast carcinoma in situ skos:closeMatch NCIT:C2924 Breast Ductal Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast ductal carcinoma in situ -MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement -MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement +MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 +MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 MONDO:0005028 esophageal adenocarcinoma skos:exactMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of esophagus -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 +MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040028 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040028 -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 +MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017709 +MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 MONDO:0005034 thyroid gland follicular carcinoma skos:closeMatch NCIT:C27380 Thyroid Gland Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label thyroid gland adenocarcinoma MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017708 MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206718 -MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor -MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005044 hypertensive disorder skos:closeMatch NCIT:C3117 Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial hypertrophic cardiomyopathy -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 +MONDO:0005047 infertility disorder skos:closeMatch NCIT:C3836 Infertility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infertility MONDO:0005047 infertility disorder skos:exactMatch NCIT:C63385 Sterile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sterile MONDO:0005047 infertility disorder skos:exactMatch NCIT:C63385 Sterile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sterile -MONDO:0005047 infertility disorder skos:closeMatch NCIT:C3836 Infertility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infertility MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement -MONDO:0005052 irritable bowel syndrome skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ibs MONDO:0005053 ischemic disease skos:closeMatch NCIT:C34738 Ischemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ischemia MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C14327 Human Herpesvirus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023284 MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024189 -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023269 -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 +MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024189 +MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 +MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 +MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 MONDO:0005061 lung adenocarcinoma skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of lung -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025310 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024299 +MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 +MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 MONDO:0005063 medullary breast carcinoma skos:closeMatch NCIT:C9119 Breast Medullary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast medullary carcinoma MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 -MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 +MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 +MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029260 +MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 +MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005073 melanocytic nevus skos:exactMatch NCIT:C42539 Mole semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mole -MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0005075 thyroid gland papillary carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238463 -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043167 -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 +MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043167 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036485 MONDO:0005081 preeclampsia skos:exactMatch NCIT:C4371 Gestational Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational hypertension -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 MONDO:0005083 psoriasis skos:narrowMatch ICD10WHO:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005083 psoriasis skos:narrowMatch ICD10CM:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pterygium of conjunctiva and cornea MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcc +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypernephroma -MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067946 -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:closeMatch OMIM:181500 schizophrenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:closeMatch OMIM:181500 schizophrenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia with or without an affective disorder MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061982 +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1175175 MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 -MONDO:0005091 severe acute respiratory syndrome skos:exactMatch OMIM:607529 SARS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sars +MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 +MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061982 MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis MONDO:0005093 skin disorder skos:closeMatch NCIT:C27554 Dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dermatosis MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant hemangiopericytoma MONDO:0005098 stroke disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction -MONDO:0005098 stroke disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral infarction MONDO:0005098 stroke disorder skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrovascular accident +MONDO:0005098 stroke disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral infarction MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subarachnoid hemorrhage MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subarachnoid hemorrhage -MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement +MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042953 -MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative colitis MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement -MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement +MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative colitis MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative colitis -MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ues +MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 -MONDO:0005105 melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0005105 melanoma skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0005105 melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 -MONDO:0005106 lipoma skos:closeMatch NCIT:C4248 Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatous neoplasm -MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomatosis, familial multiple -MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoma +MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma +MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomatosis, familial multiple +MONDO:0005106 lipoma skos:closeMatch NCIT:C4248 Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatous neoplasm MONDO:0005112 malignant pleural mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0812413 MONDO:0005113 bacterial infectious disease skos:closeMatch Orphanet:163582 Rare bacterial infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004623 -MONDO:0005115 temporal lobe epilepsy skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842564 MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label temporal lobe epilepsy MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporal lobe epilepsy +MONDO:0005115 temporal lobe epilepsy skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842564 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930851 -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 +MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023343 -MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005131 cervical carcinoma skos:closeMatch Orphanet:213761 Rare cancer of cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302592 -MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement -MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025487 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024530 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005139 morbid obesity skos:exactMatch NCIT:C34858 Morbid Obesity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morbid obesity -MONDO:0005144 familial amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0005144 familial amyotrophic lateral sclerosis skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0005144 familial amyotrophic lateral sclerosis skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105400 -MONDO:0005147 type 1 diabetes mellitus skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611895 MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diabetes mellitus, noninsulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin resistance, susceptibility to MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes MONDO:0005149 pulmonary hypertension skos:exactMatch NCIT:C3120 Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension -MONDO:0005150 age-related macular degeneration skos:exactMatch OMIM:180980 AMD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amd MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 -MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613986 -MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement -MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym prostate cancer +MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label prostate cancer -MONDO:0005160 aortic aneurysm skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 +MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym prostate cancer +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27046 Ruptured Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured abdominal aortic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27198 Ruptured Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured aortic aneurysm -MONDO:0005160 aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27299 Ruptured Thoracic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured thoracic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016057 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 +MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 +MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016057 MONDO:0005178 osteoarthritis skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoarthrosis MONDO:0005185 chronic childhood arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid arthritis -MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 +MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 MONDO:0005192 exocrine pancreatic carcinoma skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235974 MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic carcinoma MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714644 MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346210 -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007196 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038748 +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005202 atopic IgE-mediated allergic disorder skos:closeMatch NCIT:C41366 Atopy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atopy -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039497 MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338113 -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039022 +MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039497 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 +MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039022 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035412 -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma -MONDO:0005220 collecting duct carcinoma skos:exactMatch OMIM:113100 brachydactyly, iia c semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bdc +MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522631 MONDO:0005240 kidney disorder skos:closeMatch NCIT:C34843 Nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement @@ -1568,55 +1425,51 @@ MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005249 pneumonia skos:closeMatch NCIT:C27197 Acute Pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pneumonia +MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement +MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement -MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement -MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement -MONDO:0005258 autism spectrum disorder skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atypical autism -MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement -MONDO:0005258 autism spectrum disorder skos:exactMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder MONDO:0005258 autism spectrum disorder skos:exactMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder +MONDO:0005258 autism spectrum disorder skos:exactMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder +MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement +MONDO:0005258 autism spectrum disorder skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atypical autism MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10WHO:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement MONDO:0005260 autism skos:closeMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autistic disorder -MONDO:0005260 autism skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 -MONDO:0005260 autism skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 MONDO:0005265 inflammatory bowel disease skos:closeMatch Orphanet:104012 Rare inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021390 MONDO:0005271 allergic disease skos:closeMatch NCIT:C3114 Hypersensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypersensitivity MONDO:0005271 allergic disease skos:narrowMatch ICD10CM:T78.49 Other allergy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergy semapv:RegularExpressionReplacement -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch OMIM:180300 rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ra -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038269 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aregenerative anemia +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038269 MONDO:0005276 dental caries skos:narrowMatch ICD10WHO:K02.8 Other dental caries semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dental caries semapv:RegularExpressionReplacement -MONDO:0005277 migraine disorder skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migraine MONDO:0005277 migraine disorder skos:narrowMatch ICD10WHO:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement MONDO:0005277 migraine disorder skos:narrowMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement +MONDO:0005277 migraine disorder skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migraine MONDO:0005278 serous adenocarcinoma skos:closeMatch NCIT:C3778 Serous Cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serous cystadenocarcinoma MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 -MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024137 +MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal disorder -MONDO:0005291 brain aneurysm skos:closeMatch NCIT:C34458 Intracranial Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial aneurysm -MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain aneurysm -MONDO:0005296 sleep apnea syndrome skos:narrowMatch ICD10CM:G47.39 Other sleep apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym sleep apnea semapv:RegularExpressionReplacement +MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm +MONDO:0005291 brain aneurysm skos:closeMatch NCIT:C34458 Intracranial Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial aneurysm MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C26884 Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep apnea +MONDO:0005296 sleep apnea syndrome skos:narrowMatch ICD10CM:G47.39 Other sleep apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym sleep apnea semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:exactMatch NCIT:C27079 Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis -MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement -MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement +MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement +MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005298 osteoporosis skos:exactMatch OMIM:611739 bone mineral density quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:narrowMatch ICD10WHO:M81.8 Other osteoporosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteoporosis semapv:RegularExpressionReplacement -MONDO:0005298 osteoporosis skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, involutional MONDO:0005298 osteoporosis skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to +MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, involutional MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fracture, hip, susceptibility to -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adhd -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch NCIT:C64911 Add semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label add +MONDO:0005298 osteoporosis skos:narrowMatch ICD10WHO:M81.8 Other osteoporosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteoporosis semapv:RegularExpressionReplacement +MONDO:0005298 osteoporosis skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to MONDO:0005307 contracture skos:closeMatch NCIT:C75585 Muscle Contracture semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label muscle contracture MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 @@ -1627,10 +1480,10 @@ MONDO:0005319 humerus fracture skos:exactMatch NCIT:C26795 Humerus Fracture sema MONDO:0005320 tibia fracture skos:exactMatch NCIT:C99083 Tibia Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibia fracture MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fuchs endothelial corneal dystrophy MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016781 -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005325 radius fracture skos:exactMatch NCIT:C99039 Radius Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radius fracture MONDO:0005326 sunburn skos:narrowMatch ICD10WHO:L55.8 Other sunburn semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sunburn semapv:RegularExpressionReplacement MONDO:0005326 sunburn skos:exactMatch NCIT:C3395 Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn @@ -1640,202 +1493,171 @@ MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome s MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glaucoma, primary open angle MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucoma, primary open angle -MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poag MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary open angle glaucoma -MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androgenetic alopecia MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym androgenetic alopecia -MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement -MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androgenetic alopecia MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement -MONDO:0005340 alopecia areata skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 -MONDO:0005340 alopecia areata skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 +MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C35280 Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis -MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertriglyceridemia +MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement +MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertriglyceridemia -MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label otosclerosis -MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis +MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertriglyceridemia +MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label otosclerosis +MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis MONDO:0005350 abdominal aortic aneurysm skos:exactMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal aortic aneurysm MONDO:0005350 abdominal aortic aneurysm skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abdominal aortic aneurysm MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary vasospasm MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary vasospasm +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cjd MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005361 eosinophilic esophagitis skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eoe MONDO:0005362 erectile dysfunction skos:closeMatch NCIT:C3133 Impotence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label impotence MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C50576 Hearing Impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing impairment MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C27644 Deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness MONDO:0005365 hearing loss disorder skos:narrowMatch ICD10WHO:H91 Other hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hearing loss semapv:RegularExpressionReplacement -MONDO:0005372 male infertility skos:narrowMatch ICD10CM:N46.8 Other male infertility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym male infertility semapv:RegularExpressionReplacement MONDO:0005372 male infertility skos:closeMatch Orphanet:98048 Rare male infertility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021364 +MONDO:0005372 male infertility skos:narrowMatch ICD10CM:N46.8 Other male infertility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym male infertility semapv:RegularExpressionReplacement MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C35369 Neurotic Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurotic depression MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C34533 Reactive Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label reactive depression MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement -MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005381 bone disorder skos:closeMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone disorder related to a common gene or pathway defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005385 vascular disorder skos:closeMatch Orphanet:68362 Rare vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042373 MONDO:0005386 peripheral arterial disease skos:closeMatch NCIT:C84496 Peripheral Artery Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral artery disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism -MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement +MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement +MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C80099 Premature Menopause semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature menopause -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008312 -MONDO:0005388 primary biliary cholangitis skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pbc -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615436 -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607087 -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 +MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 +MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 MONDO:0005396 thoracic aortic aneurysm skos:exactMatch NCIT:C27001 Thoracic Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic aortic aneurysm -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym venous thromboembolism MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous thromboembolism MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lymphoid leukemia semapv:RegularExpressionReplacement MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lymphoid leukemia semapv:RegularExpressionReplacement -MONDO:0005411 gallbladder cancer skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm +MONDO:0005411 gallbladder cancer skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stress ulcer +MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement +MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10CM:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10CM:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement -MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement -MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005424 elephantiasis skos:exactMatch NCIT:C34569 Elephantiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elephantiasis MONDO:0005429 prion disease skos:exactMatch NCIT:C38853 Prion Disease Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prion disorder pathway semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34768 Cutaneous Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005447 testicular cancer skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of -MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of +MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001461 MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041228 +MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001461 MONDO:0005461 endometrium adenocarcinoma skos:closeMatch NCIT:C6287 Endometrial Endometrioid Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial endometrioid adenocarcinoma -MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pnet MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement -MONDO:0005468 hypotensive disorder skos:exactMatch NCIT:C3128 Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10WHO:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement -MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement +MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement +MONDO:0005468 hypotensive disorder skos:exactMatch NCIT:C3128 Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orthostatic hypotension MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension -MONDO:0005473 temporomandibular joint disorder skos:exactMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd -MONDO:0005473 temporomandibular joint disorder skos:exactMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd -MONDO:0005473 temporomandibular joint disorder skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chemotherapy-induced alopecia MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005486 tooth agenesis skos:exactMatch NCIT:C171426 Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adolescent idiopathic scoliosis +MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement +MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:closeMatch Orphanet:79384 Rare urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042109 -MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement -MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005496 bile duct carcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0740277 -MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone development disorder semapv:RegularExpressionReplacement MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone development disorder semapv:RegularExpressionReplacement +MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone development disorder semapv:RegularExpressionReplacement +MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006041 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006057 -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism MONDO:0005498 botulism skos:closeMatch NCIT:C128341 Foodborne Botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 -MONDO:0005499 brain glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613028 -MONDO:0005499 brain glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 -MONDO:0005499 brain glioma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pmm2-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rft1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pmm2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg11-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg +MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mogs-cdg +MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mgat2-cdg +MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mgat2-cdg -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mogs-cdg MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012310 -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013023 +MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement +MONDO:0005504 diphtheria skos:narrowMatch ICD10CM:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 +MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013023 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012546 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 -MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement -MONDO:0005504 diphtheria skos:narrowMatch ICD10CM:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266177 MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch OMIM:608177 EXT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary multiple exostoses MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary multiple exostoses MONDO:0005510 hydronephrosis skos:narrowMatch ICD10CM:N13.39 Other hydronephrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydronephrosis semapv:RegularExpressionReplacement MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056558 MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch NCIT:C7633 Peritoneal Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peritoneal mesothelioma MONDO:0005516 osteochondrodysplasia skos:closeMatch NCIT:C34466 Cartilage Development Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cartilage development disorder MONDO:0005517 pharynx cancer skos:exactMatch NCIT:C3325 Pharyngeal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pharyngeal neoplasm MONDO:0005520 rickets skos:closeMatch NCIT:C131447 Nutritional Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nutritional rickets -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 +MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039614 +MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 MONDO:0005526 tetanus skos:narrowMatch ICD10CM:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement MONDO:0005526 tetanus skos:narrowMatch ICD10WHO:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005527 toxic encephalopathy skos:narrowMatch ICD10CM:G92.8 Other toxic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym toxic encephalopathy semapv:RegularExpressionReplacement -MONDO:0005549 renal cell adenocarcinoma skos:exactMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcc MONDO:0005549 renal cell adenocarcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of kidney -MONDO:0005549 renal cell adenocarcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcc -MONDO:0005550 infectious disease skos:exactMatch NCIT:C157825 Communicable Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label communicable disorder semapv:RegularExpressionReplacement -MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection MONDO:0005550 infectious disease skos:exactMatch NCIT:C128320 Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infection +MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection +MONDO:0005550 infectious disease skos:exactMatch NCIT:C157825 Communicable Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label communicable disorder semapv:RegularExpressionReplacement MONDO:0005554 rheumatic disorder skos:closeMatch NCIT:C26729 Connective Tissue Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label connective tissue disorder semapv:RegularExpressionReplacement MONDO:0005560 brain disorder skos:closeMatch NCIT:C26920 Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label encephalopathy -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036051 -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 +MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 +MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036051 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 -MONDO:0005575 colorectal cancer skos:closeMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crc MONDO:0005575 colorectal cancer skos:closeMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colon cancer MONDO:0005578 arthritic joint disease skos:narrowMatch ICD10CM:M13 Other arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym arthritis semapv:RegularExpressionReplacement MONDO:0005578 arthritic joint disease skos:narrowMatch ICD10WHO:M13 Other arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym arthritis semapv:RegularExpressionReplacement @@ -1843,54 +1665,52 @@ MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 MONDO:0005586 head and neck neoplasm skos:closeMatch Orphanet:290849 Rare head and neck tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018671 MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodontitis, chronic MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label periodontitis, chronic -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035484 +MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma +MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041466 MONDO:0005623 autoimmune thyroid disease skos:closeMatch NCIT:C38766 Lymphocytic Thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic thyroiditis -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 +MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 +MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 MONDO:0005631 actinomycosis skos:closeMatch NCIT:C34349 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma -MONDO:0005632 acute chest syndrome skos:exactMatch OMIM:605832 ACSS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acs -MONDO:0005632 acute chest syndrome skos:exactMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acs MONDO:0005634 acute hemorrhagic conjunctivitis skos:closeMatch NCIT:C34509 Viral Conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral conjunctivitis MONDO:0005644 amebiasis skos:exactMatch NCIT:C157785 Amoebiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amoebiasis -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002831 +MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 +MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum -MONDO:0005649 appendicitis skos:narrowMatch ICD10WHO:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005649 appendicitis skos:narrowMatch ICD10CM:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 +MONDO:0005649 appendicitis skos:narrowMatch ICD10WHO:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 +MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 -MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym piroplasmosis semapv:RegularExpressionReplacement +MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004576 -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003965 -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 +MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 +MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004080 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 +MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34428 Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206638 MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoclastoma +MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206638 MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006181 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 @@ -1898,164 +1718,147 @@ MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:Lexic MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006309 MONDO:0005683 brucellosis skos:narrowMatch ICD10CM:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement MONDO:0005683 brucellosis skos:narrowMatch ICD10WHO:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007361 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 +MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 MONDO:0005699 cervicofacial actinomycosis skos:closeMatch NCIT:C34351 Cervicofacial Actinomycotic Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervicofacial actinomycotic infection MONDO:0005701 chlamydia trachomatis infectious disease skos:closeMatch NCIT:C76271 Chlamydia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chlamydia MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009186 +MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009400 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010022 +MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009400 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545080 +MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266191 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235833 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010439 MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039131 -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010652 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040560 +MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 +MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 MONDO:0005723 Cryptococcal meningitis skos:exactMatch NCIT:C174113 Cryptococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcal meningitis -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010414 -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 +MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 +MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010414 MONDO:0005731 dipetalonemiasis skos:closeMatch NCIT:C119326 Mansonella perstans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mansonella perstans -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014587 MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153065 +MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014587 +MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014071 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 -MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch OMIM:605439 EHF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ehf -MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch OMIM:605439 EHF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehf -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048251 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005744 yolk sac tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endodermal sinus tumor -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 -MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 +MONDO:0005744 yolk sac tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endodermal sinus tumor +MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048251 MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 +MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016675 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 -MONDO:0005769 geniculate herpes zoster skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ramsay hunt syndrome MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017409 -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 +MONDO:0005769 geniculate herpes zoster skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ramsay hunt syndrome MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048608 MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 +MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 MONDO:0005774 glanders skos:closeMatch NCIT:C86226 Burkholderia mallei semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label burkholderia mallei -MONDO:0005775 G6PD deficiency skos:exactMatch OMIM:305900 G6PD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6pd -MONDO:0005775 G6PD deficiency skos:exactMatch OMIM:305900 G6PD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label g6pd -MONDO:0005783 hemopericardium skos:exactMatch NCIT:C111644 Hemopericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemopericardium MONDO:0005783 hemopericardium skos:exactMatch NCIT:C111644 Hemopericardium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemopericardium +MONDO:0005783 hemopericardium skos:exactMatch NCIT:C111644 Hemopericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemopericardium MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:closeMatch NCIT:C84753 Hemorrhagic Fever with Renal Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic fever with renal syndrome MONDO:0005789 hepatitis D virus infection skos:exactMatch NCIT:C93324 Hepatitis D Virus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatitis d virus -MONDO:0005794 Herpesviridae infectious disease skos:closeMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpesvirus infection MONDO:0005794 Herpesviridae infectious disease skos:exactMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label herpesvirus infection +MONDO:0005794 Herpesviridae infectious disease skos:closeMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpesvirus infection MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343755 MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hookworm infection MONDO:0005799 hookworm infectious disease skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hookworm infection MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:closeMatch NCIT:C14223 HTLV-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020413 +MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 +MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis +MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia -MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperprolactinemia -MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10CM:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10WHO:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement +MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10CM:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C44044 Mono semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mono -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interdigitating dendritic cell sarcoma -MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 +MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interdigitating dendritic cell sarcoma MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of pancreas -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 +MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 +MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023927 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035718 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023240 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 -MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella MONDO:0005824 Legionnaires' disease skos:exactMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 +MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 +MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesterol pneumonia MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pneumonia -MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes skos:closeMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoatrophic diabetes mellitus -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 +MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 MONDO:0005833 lymphatic system disorder skos:closeMatch NCIT:C50764 Lymphadenopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphadenopathy -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614331 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614350 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614337 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609310 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614385 -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613244 MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 +MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024759 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 +MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 -MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10WHO:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10CM:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement +MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10WHO:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393799 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049567 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 MONDO:0005852 mitral valve stenosis skos:exactMatch NCIT:C50654 Mitral Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitral valve stenosis -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005866 mycobacterium avium complex disease skos:exactMatch NCIT:C76368 Mycobacterium avium complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mycobacterium avium complex MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 @@ -2066,50 +1869,50 @@ MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligohydramnios MONDO:0005885 optic neuritis skos:narrowMatch ICD10CM:H46.8 Other optic neuritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym optic neuritis semapv:RegularExpressionReplacement MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine carcinoma of pancreas -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030409 -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061906 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 +MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030409 +MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005915 pityriasis versicolor skos:closeMatch NCIT:C112833 Tinea Versicolor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea versicolor -MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta +MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032051 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 +MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 +MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 -MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis MONDO:0005965 spinal stenosis skos:closeMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lumbar spinal stenosis -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038034 +MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041736 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 +MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041736 +MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038034 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014060 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 +MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 MONDO:0005972 streptococcal pneumonia skos:exactMatch NCIT:C157959 Pneumococcal Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumococcal pneumonia -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085810 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048627 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039984 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 +MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048627 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044269 +MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040553 +MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044269 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 -MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 +MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040830 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040830 +MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 MONDO:0005997 tricuspid valve stenosis skos:exactMatch NCIT:C50783 Tricuspid Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid valve stenosis MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C124388 Schistosoma haematobium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosoma haematobium MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C35362 Bladder Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder schistosomiasis @@ -2120,20 +1923,19 @@ MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma s MONDO:0006007 vesicoureteral reflux skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vesicoureteral reflux MONDO:0006007 vesicoureteral reflux skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058805 +MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.89 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10WHO:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement -MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.89 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wfs -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 -MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 +MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006021 Prinzmetal angina skos:exactMatch NCIT:C66915 Variant Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label variant angina MONDO:0006022 acidosis disorder skos:exactMatch NCIT:C83504 Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis MONDO:0006025 autosomal recessive disease skos:exactMatch NCIT:C85866 Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder semapv:RegularExpressionReplacement @@ -2146,80 +1948,73 @@ MONDO:0006032 cystitis skos:narrowMatch ICD10CM:N30.8 Other cystitis semapv:Lexi MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 +MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrolethalus MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931104 MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrolethalus +MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931104 MONDO:0006040 lactic acidosis skos:exactMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactic acidosis -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 MONDO:0006043 metaplastic breast carcinoma skos:closeMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast metaplastic carcinoma +MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clear cell adenocarcinoma of the ovary MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor -MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 -MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wilms tumor MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wilms tumor +MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 +MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1314678 -MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym askin tumor MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym askin tumor -MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor +MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym askin tumor MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma -MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alt +MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor MONDO:0006097 atypical lipomatous tumor skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370507 MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid basal carcinoma MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:closeMatch NCIT:C188221 Cervical Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical neuroendocrine tumor MONDO:0006139 cervical metaplasia skos:exactMatch NCIT:C4056 Cervical Metaplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical metaplasia MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279671 -MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma +MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0006206 fallopian tube carcinoma skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238122 MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334287 -MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma +MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label somatotropic adenoma MONDO:0006241 hepatic granuloma skos:exactMatch NCIT:C4936 Hepatic Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic granuloma MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell tumor MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch NCIT:C43251 Histiocytic and Dendritic Cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydatidiform mole MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydatidiform mole -MONDO:0006249 hyperplastic polyp skos:exactMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hp -MONDO:0006249 hyperplastic polyp skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hp -MONDO:0006249 hyperplastic polyp skos:exactMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hp +MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydatidiform mole MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064886 MONDO:0006270 lobular breast carcinoma in situ skos:closeMatch NCIT:C4018 Breast Lobular Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast lobular carcinoma in situ -MONDO:0006275 lung giant cell carcinoma skos:closeMatch OMIM:606857 GCLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gclc -MONDO:0006275 lung giant cell carcinoma skos:closeMatch OMIM:606857 GCLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gclc -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049459 -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangioleiomyomatosis -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis -MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma -MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label asbestos-related malignant mesothelioma -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangioleiomyomatosis +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049459 MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027406 -MONDO:0006292 malignant mesothelioma skos:closeMatch OMIM:156240 mesothelioma, malignant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesom +MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label asbestos-related malignant mesothelioma MONDO:0006306 mixed lobular and ductal breast carcinoma skos:closeMatch NCIT:C5160 Breast Mixed Ductal and Lobular Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast mixed ductal and lobular carcinoma MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006312 myofibroma skos:closeMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile hemangiopericytoma MONDO:0006323 non-seminomatous lesion skos:exactMatch NCIT:C36127 Non-Seminomatous Lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-seminomatous lesion -MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma -MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label esthesioneuroblastoma +MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma +MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346163 MONDO:0006344 ovarian yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0006344 ovarian yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor @@ -2229,47 +2024,44 @@ MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 A MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign multicystic peritoneal mesothelioma MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2986550 -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035079 MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032000 +MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035079 MONDO:0006405 salivary gland small cell carcinoma skos:closeMatch NCIT:C173653 Salivary Gland Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland neuroendocrine carcinoma MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063397 -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 MONDO:0006427 spindle cell melanoma skos:closeMatch NCIT:C37257 Desmoplastic Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoplastic melanoma +MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061031 MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205969 MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1322286 -MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 MONDO:0006460 thyroglossal duct cyst skos:exactMatch NCIT:C85189 Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002240 -MONDO:0006478 undifferentiated pancreatic carcinoma skos:closeMatch OMIM:113730 UCP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ucp -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoclastic giant cell tumor of pancreas +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic osteoclastic giant cell tumor +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoclastic giant cell tumor of pancreas MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ogct of pancreas -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic undifferentiated carcinoma with osteoclast-like giant cells MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated carcinoma of pancreas with osteoclast-like giant cells +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic undifferentiated carcinoma with osteoclast-like giant cells MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal melanoma -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma MONDO:0006486 uveal melanoma skos:closeMatch NCIT:C9088 Iris Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iris melanoma -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 -MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vaginal squamous cell carcinoma +MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma MONDO:0006496 palsy skos:exactMatch NCIT:C116721 Palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palsy MONDO:0006497 cerebral palsy skos:narrowMatch ICD10WHO:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement MONDO:0006497 cerebral palsy skos:narrowMatch ICD10CM:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement -MONDO:0006502 acute respiratory distress syndrome skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006502 acute respiratory distress syndrome skos:closeMatch NCIT:C155766 Acute Lung Injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury +MONDO:0006502 acute respiratory distress syndrome skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006507 hereditary hemochromatosis skos:exactMatch OMIM:235200 hemochromatosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemochromatosis, hereditary MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10CM:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10WHO:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement @@ -2279,41 +2071,41 @@ MONDO:0006527 anhidrosis skos:exactMatch NCIT:C34385 Anhidrosis semapv:LexicalMa MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital generalized lipodystrophy MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement +MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement +MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006545 erythema multiforme skos:narrowMatch ICD10CM:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement MONDO:0006545 erythema multiforme skos:narrowMatch ICD10WHO:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement MONDO:0006546 erythematosquamous dermatosis skos:narrowMatch DOID:9097 erythematosquamous dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythematosquamous dermatosis semapv:RegularExpressionReplacement MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthem MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exanthem -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 +MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019343 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 MONDO:0006559 hidradenitis suppurativa skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne inversa, familial -MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidradenitis suppurativa MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa +MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidradenitis suppurativa MONDO:0006566 keratosis skos:exactMatch NCIT:C34747 Keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis -MONDO:0006572 lichen planus skos:narrowMatch ICD10WHO:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006572 lichen planus skos:closeMatch Orphanet:254367 Rare lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023646 +MONDO:0006572 lichen planus skos:narrowMatch ICD10WHO:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006572 lichen planus skos:narrowMatch ICD10CM:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006574 lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madelung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0006591 panniculitis skos:exactMatch NCIT:C112112 Panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panniculitis -MONDO:0006592 parapsoriasis skos:narrowMatch ICD10WHO:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement MONDO:0006592 parapsoriasis skos:narrowMatch ICD10CM:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement +MONDO:0006592 parapsoriasis skos:narrowMatch ICD10WHO:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.89 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement -MONDO:0006594 pemphigus skos:narrowMatch ICD10WHO:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 +MONDO:0006594 pemphigus skos:narrowMatch ICD10WHO:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036175 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162839 +MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 MONDO:0006604 rosacea skos:narrowMatch ICD10WHO:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement MONDO:0006604 rosacea skos:narrowMatch ICD10CM:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement -MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10WHO:L21.8 Other seborrhoeic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrhoeic dermatitis semapv:RegularExpressionReplacement +MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042342 MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600336 MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label subcorneal pustular dermatosis @@ -2322,125 +2114,114 @@ MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticari MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria MONDO:0006618 vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria MONDO:0006633 acalculous cholecystitis skos:closeMatch NCIT:C35579 Acute Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute acalculous cholecystitis -MONDO:0006639 adrenal cortex carcinoma skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acc -MONDO:0006639 adrenal cortex carcinoma skos:exactMatch OMIM:217990 corpus callosum, agenesis of semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acc MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206686 MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001388 +MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperadrenocorticism -MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 -MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism MONDO:0006640 adrenal gland hyperfunction skos:exactMatch NCIT:C113208 Hypercortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercortisolemia MONDO:0006644 alcoholic liver cirrhosis skos:closeMatch NCIT:C35532 Portal Cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label portal cirrhosis -MONDO:0006651 anterior uveitis skos:closeMatch NCIT:C34736 Iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iridocyclitis -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iridocyclitis MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002709 MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042165 -MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C50561 Fetal Asphyxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal asphyxia +MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iridocyclitis +MONDO:0006651 anterior uveitis skos:closeMatch NCIT:C34736 Iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iridocyclitis MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxic and ischemic brain injury in the newborn MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hypoxic and ischemic brain injury -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 +MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C50561 Fetal Asphyxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal asphyxia MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication -MONDO:0006664 atrial septal defect skos:exactMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asd +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003664 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis -MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10CM:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10WHO:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement +MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10CM:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement MONDO:0006682 brachial plexus neuritis skos:exactMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachial plexus neuritis -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006430 MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930806 +MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006430 MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 -MONDO:0006712 corneal edema skos:exactMatch NCIT:C50508 Corneal Edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal edema MONDO:0006712 corneal edema skos:narrowMatch ICD10WHO:H18.2 Other corneal oedema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym corneal oedema semapv:RegularExpressionReplacement +MONDO:0006712 corneal edema skos:exactMatch NCIT:C50508 Corneal Edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal edema MONDO:0006714 coronary aneurysm skos:closeMatch NCIT:C168176 Coronary Artery Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coronary artery aneurysm MONDO:0006715 coronary stenosis skos:exactMatch NCIT:C80427 Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary artery stenosis -MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym df -MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic fibroma -MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diaphragmatic eventration +MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic eventration -MONDO:0006733 dry eye syndrome skos:exactMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kcs +MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diaphragmatic eventration MONDO:0006738 eccrine acrospiroma skos:closeMatch NCIT:C7563 Hidradenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenoma -MONDO:0006740 empty sella syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130720 MONDO:0006742 endemic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simple goiter MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206630 +MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 MONDO:0006757 extrahepatic cholestasis skos:exactMatch NCIT:C34420 Extrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic cholestasis -MONDO:0006760 fetal erythroblastosis skos:exactMatch Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hdfn -MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroparesis MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroparesis +MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroparesis MONDO:0006770 giant cell reparative granuloma skos:exactMatch NCIT:C173930 Central Giant Cell Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central giant cell granuloma MONDO:0006771 glossitis skos:exactMatch NCIT:C112199 Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis +MONDO:0006778 halo nevus skos:closeMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoderma acquisitum centrifugum of sutton MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halo nevi MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label halo nevi -MONDO:0006778 halo nevus skos:closeMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoderma acquisitum centrifugum of sutton -MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helicobacter pylori infection, susceptibility to MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicobacter pylori infection, susceptibility to +MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helicobacter pylori infection, susceptibility to MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome +MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 +MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym budd-chiari syndrome -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C2972 Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystadenoma MONDO:0006789 hyperamylasemia skos:exactMatch NCIT:C113755 Hyperamylasemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperamylasemia -MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperemesis gravidarum MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperemesis gravidarum +MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperemesis gravidarum MONDO:0006805 intermediate coronary syndrome skos:exactMatch NCIT:C66911 Unstable Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label unstable angina MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pars planitis -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis MONDO:0006806 intermediate uveitis skos:closeMatch NCIT:C34903 Pars Planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis +MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022557 MONDO:0006810 intracranial hypertension skos:exactMatch NCIT:C84791 Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension MONDO:0006811 intracranial hypotension skos:narrowMatch ICD10CM:G96.819 Other intracranial hypotension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intracranial hypotension semapv:RegularExpressionReplacement -MONDO:0006823 Klinefelter syndrome skos:closeMatch NCIT:C113347 Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadotropic hypogonadism MONDO:0006823 Klinefelter syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0006823 Klinefelter syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 +MONDO:0006823 Klinefelter syndrome skos:closeMatch NCIT:C113347 Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadotropic hypogonadism MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022802 -MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C84807 Lateral Medullary Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lateral medullary syndrome MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C35123 Vertebral Artery Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral artery syndrome +MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C84807 Lateral Medullary Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lateral medullary syndrome MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal midline granuloma MONDO:0006829 leukemoid reaction skos:exactMatch NCIT:C3185 Leukemoid Reaction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukemoid reaction MONDO:0006831 leukostasis skos:exactMatch NCIT:C4062 Leukostasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukostasis MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrotic syndrome with lesion of minimal change glomerulonephritis MONDO:0006840 lymphangiectasis skos:closeMatch NCIT:C97087 Lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia MONDO:0006846 malignant hypertension skos:exactMatch NCIT:C3118 Malignant Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hypertension -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 +MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 -MONDO:0006851 meconium aspiration syndrome skos:exactMatch OMIM:165180 MAS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mas -MONDO:0006851 meconium aspiration syndrome skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mas MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 MONDO:0006861 myeloid sarcoma skos:closeMatch NCIT:C35815 Granulocytic Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulocytic sarcoma -MONDO:0006861 myeloid sarcoma skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ms -MONDO:0006861 myeloid sarcoma skos:closeMatch NCIT:C69169 Ms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ms -MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis +MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis +MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis MONDO:0006874 obstructive jaundice skos:exactMatch NCIT:C34742 Obstructive Jaundice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive jaundice MONDO:0006875 ocular hypertension skos:exactMatch NCIT:C3285 Ocular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension -MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parathyroid gland adenoma MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parathyroid gland adenoma -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032001 +MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parathyroid gland adenoma MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 +MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 +MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032001 MONDO:0006909 pituitary dwarfism skos:exactMatch NCIT:C34555 Pituitary Dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dwarfism MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 +MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 +MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 MONDO:0006913 pneumococcal meningitis skos:exactMatch NCIT:C157958 Pneumococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis MONDO:0006918 posterior uveitis skos:exactMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis MONDO:0006918 posterior uveitis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis @@ -2451,1982 +2232,1811 @@ MONDO:0006921 Actinomycetales infectious disease skos:closeMatch NCIT:C34350 Act MONDO:0006926 haemophilus infectious disease skos:closeMatch NCIT:C34654 Hemophilus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilus infection MONDO:0006927 Rickettsiaceae infectious disease skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rickettsialpox MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0006937 pulpitis skos:exactMatch NCIT:C52595 Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037904 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034686 +MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006946 renal osteodystrophy skos:exactMatch NCIT:C114827 Renal Osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renovascular hypertension MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 MONDO:0006952 retinopathy of prematurity skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinopathy of prematurity -MONDO:0006955 rheumatic heart disease skos:exactMatch OMIM:111680 RHD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhd -MONDO:0006955 rheumatic heart disease skos:exactMatch OMIM:111680 RHD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhd +MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035585 -MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10WHO:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10CM:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement +MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10WHO:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis MONDO:0006970 sialolithiasis skos:exactMatch NCIT:C34994 Salivary Gland Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary gland stone -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 +MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 +MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 MONDO:0006977 spermatocele skos:exactMatch NCIT:C120909 Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute thyroiditis MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NCIT:C85172 Subvalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subvalvular aortic stenosis -MONDO:0006987 subvalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0007000 Treponema infectious disease skos:closeMatch NCIT:C85197 Treponemal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treponemal infection MONDO:0007009 ureterolithiasis skos:exactMatch NCIT:C26902 Ureteric Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ureteric stone -MONDO:0007015 viral meningitis skos:narrowMatch ICD10CM:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement MONDO:0007015 viral meningitis skos:narrowMatch ICD10WHO:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement +MONDO:0007015 viral meningitis skos:narrowMatch ICD10CM:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bor syndrome MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265234 -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome, autosomal dominant -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome -MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033770 +MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 -MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbs -MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy -MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27593 Abducens Nerve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens nerve disorder semapv:RegularExpressionReplacement MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27592 Cranial Nerve VI Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial nerve vi palsy +MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27593 Abducens Nerve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens nerve disorder semapv:RegularExpressionReplacement MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens palsy +MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 +MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265268 MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 -MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies -MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aos MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans -MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acanthosis nigricans +MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthosis nigricans -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000452 +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000452 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001080 -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 MONDO:0007037 achondroplasia skos:closeMatch OMIM:100800 achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ach -MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroutka sneeze MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant compelling helioophthalmic outburst syndrome -MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sneezing from light exposure MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photic sneeze reflex +MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sneezing from light exposure +MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroutka sneeze MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic schwannomas, bilateral -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic neurinoma, bilateral -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101000 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 -MONDO:0007039 neurofibromatosis type 2 skos:exactMatch OMIM:607379 NF2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nf2 -MONDO:0007039 neurofibromatosis type 2 skos:exactMatch OMIM:607379 NF2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf2 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic neurinoma, bilateral +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic schwannomas, bilateral +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 MONDO:0007040 Sakati-Nyhan syndrome skos:closeMatch OMIM:101120 acrocephalopolysyndactyly iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acps type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101200 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt cephalodactyly -MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apert-crouzon disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apert-crouzon disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101200 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, epicanthus inversus, and ptosis type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrocephaly, skull asymmetry, and mild syndactyly -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saethre-chotzen syndrome with eyelid anomalies MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chotzen syndrome -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial-skeletal-dermatologic dysplasia -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 -MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adohr -MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrdys1 MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 +MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrokeratoderma, hereditary papulotranslucent MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoderma, hereditary papulotranslucent -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenous plaques of hands and feet -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoelastoidosis +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545044 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069445 MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101900 -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch OMIM:101900 acrokeratosis verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym akv MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:closeMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosenthal-kloepfer syndrome MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thick lips and oral mucosa MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afa syndrome -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita1 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagh1 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated familial somatotropinoma +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma predisposition -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotrophinoma, familial MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotrophinoma, familial +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma, familial isolated -MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromelalgia, hereditary +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekbom syndrome -MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rls1 +MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromelalgia, hereditary MONDO:0007054 acromial dimples skos:closeMatch OMIM:102350 acromial dimples semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supraspinous fossae, congenital MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 -MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102370 -MONDO:0007055 acromicric dysplasia skos:closeMatch OMIM:102370 acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acmicd MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 +MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102370 MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102400 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch OMIM:102500 hajdu-cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjcys -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930971 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930971 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917715 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917715 -MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch OMIM:102510 acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrpv -MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863307 +MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102520 MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495490 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatozoa, round-headed MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round-headed spermatozoa -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf6 +MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrosome malformation of spermatozoa +MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatozoa, round-headed +MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 +MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adactylia, unilateral -MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adactylia, unilateral MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of hand, unilateral +MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adactylia, unilateral MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, delayed onset MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, late-onset -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:narrowMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adenosine deaminase deficiency semapv:RegularExpressionReplacement -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, delayed onset MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch OMIM:608958 ADA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ada -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch OMIM:608958 ADA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:narrowMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adenosine deaminase deficiency semapv:RegularExpressionReplacement MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine triphosphate, elevated, of erythrocytes MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine triphosphate, elevated, of erythrocytes -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 +MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103050 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103050 +MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch OMIM:103050 adenylosuccinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch OMIM:103050 adenylosuccinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsld -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001529 +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103230 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863204 -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome -MONDO:0007072 ADULT syndrome skos:closeMatch OMIM:103285 adult syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oromandibular limb hypoplasia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 +MONDO:0007072 ADULT syndrome skos:closeMatch OMIM:103285 adult syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia-hypodactylia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peromelia with micrognathism MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aglossia-adactylia +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peromelia with micrognathism +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oromandibular limb hypoplasia +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103420 MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrimia congenita, autosomal dominant -MONDO:0007077 Tietz syndrome skos:closeMatch OMIM:103500 tietz albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tads -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 +MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 +MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3494506 -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C118434 Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, squamous cell, alcohol-related, protection against MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence, protection against -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, sensitive to dexamethasone -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hald1 -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103900 -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid-suppressible hyperaldosteronism MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hyperaldosteronism type i +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103900 +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid-suppressible hyperaldosteronism +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, sensitive to dexamethasone MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-dependent hyperaldosteronism syndrome +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 +MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0007082 alopecia areata 1 skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis -MONDO:0007082 alopecia areata 1 skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aa1 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkca1 +MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 -MONDO:0007084 familial focal alopecia skos:closeMatch OMIM:104110 alopecia, familial focal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpf -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 +MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104290 -MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc1 -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, early-onset, with cerebral amyloid angiopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:163729 NOS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presenile and senile dementia -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad1 -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:163729 NOS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104310 +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, early-onset, with cerebral amyloid angiopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007089 Alzheimer disease 2 skos:closeMatch OMIM:104310 alzheimer disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 2, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aih2 -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic local, autosomal dominant -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, hereditary localized +MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104310 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic local, autosomal dominant +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, hereditary localized MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863012 +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch OMIM:104510 amelogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104570 +MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863006 -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, gsn-related -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cranial neuropathy with lattice corneal dystrophy -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105120 +MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis +MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105120 +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cranial neuropathy with lattice corneal dystrophy +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, gsn-related +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, cst3-related MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, cst3-related MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 -MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic nonneuropathic MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial visceral +MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic nonneuropathic +MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105200 MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, familial visceral -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, leptomeningeal, transthyretin-related +MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label attrv30m amyloidosis MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206245 MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label attrv30m amyloidosis -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cardiomyopathy, transthyretin-related MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary amyloidosis, transthyretin-related -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, leptomeningeal, transthyretin-related MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid polyneuropathy, familial +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cardiomyopathy, transthyretin-related MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary localized cutaneous amyloidosis -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, sporadic +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105400 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888102 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105550 -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftdals1 -MONDO:0007106 anal sphincter dysplasia skos:closeMatch OMIM:105563 anal sphincter dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asdp +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement MONDO:0007107 anal sphincter myopathy, internal skos:closeMatch OMIM:105565 anal sphincter myopathy, internal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proctalgia fugax due to anal sphincter myopathy MONDO:0007108 anal canal carcinoma skos:closeMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloacogenic carcinoma -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroreticulosis, hereditary benign MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 3 semapv:RegularExpressionReplacement MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271934 MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital erythroid hypoplastic -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aplasia, pure, hereditary -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba1 -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroreticulosis, hereditary benign MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aregenerative anemia, chronic congenital -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrogenesis imperfecta MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrogenesis imperfecta +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital erythroid hypoplastic MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aplasia, pure, hereditary MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysmal subarachnoid hemorrhage, familial +MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1387721 -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105805 MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm of interventricular septum MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm of interventricular septum -MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym as -MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman syndrome chromosome region -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 +MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1387721 +MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105805 MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym happy puppet syndrome, formerly -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049004 +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105830 -MONDO:0007113 Angelman syndrome skos:closeMatch NCIT:C64938 As semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label as -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105835 +MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman syndrome chromosome region +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angel-shaped phalangoepiphyseal dysplasia MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angel-shaped phalangoepiphyseal dysplasia MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066017 -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angel-shaped phalangoepiphyseal dysplasia +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105835 MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106050 MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, hereditary neurocutaneous -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, disseminated MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, hereditary neurocutaneous +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, disseminated MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal arterial venous malformations with cutaneous hemangiomas -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary neurocutaneous malformation MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106070 -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhd -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhidrosis, isolated, with normal sweat glands +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary neurocutaneous malformation MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anhidrosis, isolated, with normal sweat glands -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106190 +MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhidrosis, isolated, with normal sweat glands MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated generalized anhidrosis with normal sweat glands -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia and absent patella -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia and absent patella -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862868 +MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106190 MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106220 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afa -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106250 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 +MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862868 +MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia and absent patella +MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia and absent patella +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum and cleft palate +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon filiforme adnatum and cleft palate -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum and cleft palate MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106250 MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106260 -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon-ectodermal defects-cleft lip/palate +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007125 ankyloglossia skos:closeMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'tongue-tie' -MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie-strumpell spondylitis -MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bechterew syndrome MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing spondylitis, susceptibility to -MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spda1 -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing vertebral hyperostosis with tylosis +MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bechterew syndrome +MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie-strumpell spondylitis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthag1 +MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing vertebral hyperostosis with tylosis +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, with orofacial cleft +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, familial +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym second premolars and third molars, absence of MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106600 -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia with orofacial cleft -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym second premolars and third molars, absence of -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, familial -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapvr1 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106750 MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862844 +MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106995 +MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862841 MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onychodystrophy with hypoplasia or absence of distal phalanges MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia-onychodystrophy with hypoplasia or absence of distal phalanges -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862841 -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106995 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc6 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, partial MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, partial MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia and onychodystrophy +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 -MONDO:0007136 genetic anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 -MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorectal anomalies MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorectal anomalies -MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anosmia, isolated congenital +MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorectal anomalies +MONDO:0007136 genetic anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, congenital -MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anic +MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anosmia, isolated congenital MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, isolated congenital MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107200 MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment ocular dysgenesis -MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asgd1 MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 -MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:618899 Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asmd -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbs1 -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265246 +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rear syndrome -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic arch anomaly with peculiar facies and mental retardation +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic arch anomaly with peculiar facies and mental retardation MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862682 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 -MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defect, congenital -MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, nonsyndromic -MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, nonsyndromic +MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, nonsyndromic MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital defect of skull and scalp -MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:217990 corpus callosum, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea/hypopnea syndrome -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, obstructive sleep -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch NCIT:C19862 OSA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osa +MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defect, congenital MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C116337 Obstructive Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstructive sleep apnea +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch NCIT:C19862 OSA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osa MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, obstructive sleep +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, obstructive sleep +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea/hypopnea syndrome MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arcus corneae MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcus corneae +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, right ventricular dilated MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uhl anomaly -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007772 -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108010 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriovenous malformations MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bavm +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007772 MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 -MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amc MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da5 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da6 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862471 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stl1 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stickler syndrome type 1 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862471 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 +MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stickler syndrome type 1 +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108420 MONDO:0007161 spermatogenic failure 2 skos:closeMatch OMIM:108420 spermatogenic failure 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspermiogenesis factor MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic ataxia, nystagmus-associated MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetazolamide-responsive hereditary paroxysmal cerebellar ataxia MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellopathy, hereditary paroxysmal -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, familial paroxysmal -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial paroxysmal ataxia MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720416 +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apca -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea2 -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108600 +MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial paroxysmal ataxia +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, familial paroxysmal +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus +MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic ataxia type 1 +MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108600 +MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia with congenital miosis MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 +MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia with congenital miosis -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia with congenital miosis +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 +MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 MONDO:0007167 atelosteogenesis type I skos:closeMatch OMIM:108720 atelosteogenesis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylohumerofemoral hypoplasia MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108721 MONDO:0007168 atelosteogenesis type III skos:closeMatch OMIM:108721 atelosteogenesis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007169 atherosclerosis susceptibility skos:closeMatch OMIM:108725 atherosclerosis susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherogenic lipoprotein phenotype MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108760 +MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block -MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial, with conduction disturbance -MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrst1 MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 +MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial, with conduction disturbance +MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108800 MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108800 -MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502353 MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108900 -MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd7 +MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862387 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024984 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108950 -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sveinsson chorioretinal atrophy -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicoidal peripapillary chorioretinal degeneration -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862382 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108985 -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109000 -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862382 +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicoidal peripapillary chorioretinal degeneration MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 +MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109000 +MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 MONDO:0007178 aurocephalosyndactyly skos:closeMatch OMIM:109050 aurocephalosyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auralcephalosyndactyly MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:closeMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nigrospinodentatal degeneration +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinopontine atrophy MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024408 MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109150 MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azorean neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nigrospinodentatal degeneration -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinopontine atrophy +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007184 alopecia, androgenetic, 1 skos:closeMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baldness, male pattern -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109300 MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862319 +MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109300 MONDO:0007186 gastroesophageal reflux disease skos:exactMatch NCIT:C92560 Gastroesophageal Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroesophageal reflux -MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ger MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastroesophageal reflux, pediatric -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcns -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062804 +MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ger MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004779 +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062804 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109400 -MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basilar impression, primary -MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basilar impression, primary -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls2 +MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 +MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basilar impression, primary +MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basilar impression, primary MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic, b-cell +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls2 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109543 +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade +MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004213 -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109650 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 +MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109650 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004943 -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-amino acids, renal transport of MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurine renal reabsorption MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-amino acids, renal transport of -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc1 MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aovd1 MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109740 -MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder diverticulum MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder diverticulum +MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder diverticulum MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339085 MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109900 -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796197 MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110050 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796197 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, and epicanthus inversus +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with ovarian failure +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with duane retraction syndrome -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis, ptosis, and epicanthus inversus MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes without ovarian failure -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, and epicanthus inversus +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110150 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis, myopia, and ectopia lentis -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharoptosis, myopia, and ectopia lentis MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharoptosis, myopia, and ectopia lentis +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis, myopia, and ectopia lentis MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346072 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112200 +MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346072 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clcrp1 +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862177 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmsmfh -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with medullary fibrosarcoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, limb-girdle, with bone fragility -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457014 +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with medullary fibrosarcoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with malignant fibrous histiocytoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112300 +MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457014 MONDO:0007207 Böök syndrome skos:closeMatch OMIM:112300 book syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phc syndrome MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432201 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112310 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 +MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of legs, anterior, with dwarfism +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxopachyosteose diaphysaire tibio-peroniere MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112350 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wns MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxopachyosteose diaphysaire tibio-peroniere -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of legs, anterior, with dwarfism +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weismann-netter syndrome -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wns -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htnb -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with hypertension -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension and brachydactyly syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension and brachydactyly syndrome MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112410 +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with hypertension MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862170 -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-thumb brachydactyly syndrome -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-thumb brachydactyly syndrome -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension and brachydactyly syndrome +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension and brachydactyly syndrome MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862169 +MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 +MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-thumb brachydactyly syndrome +MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-thumb brachydactyly syndrome MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, combined b and e types MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, combined b and e types -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, preaxial, with hallux varus and thumb abduction MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, preaxial, with hallux varus and thumb abduction -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 MONDO:0007215 brachydactyly type A1 skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862151 -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112600 +MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 +MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112600 +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 MONDO:0007217 brachydactyly type A3 skos:closeMatch OMIM:112700 brachydactyly, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007218 brachydactyly type A4 skos:closeMatch OMIM:112800 brachydactyly, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 and type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112800 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112910 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 +MONDO:0007218 brachydactyly type A4 skos:closeMatch OMIM:112800 brachydactyly, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 and type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112910 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862130 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osebold-remondini syndrome -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 +MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 +MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862103 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113100 -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862103 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 MONDO:0007222 brachydactyly type D skos:closeMatch OMIM:113200 brachydactyly, iia d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stub thumb MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113300 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113310 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862100 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113310 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-nystagmus-cerebellar ataxia MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-nystagmus-cerebellar ataxia -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 +MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-distal symphalangism syndrome MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 -MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome -MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-distal symphalangism syndrome MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 -MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe, fourth, short +MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metatarsus iv, short -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862082 +MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe, fourth, short MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113477 MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862082 +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113477 +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangy with characteristic facies and kallmann syndrome +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangy with characteristic facies and kallmann syndrome MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113480 MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931421 -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangy with characteristic facies and kallmann syndrome -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangy with characteristic facies and kallmann syndrome -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcym3 -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachyrachia MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113500 +MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachyrachia +MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial cleft anomalies MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cleft anomalies -MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113600 -MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial cleft anomalies -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchio-oculo-facial syndrome -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113620 +MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bof syndrome MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatous branchial clefts-lip pseudocleft syndrome MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip pseudocleft-hemangiomatous branchial cyst syndrome MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchio-oculo-facial syndrome +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113620 MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootorenal dysplasia -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bor1 +MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-fraser syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113650 -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jhb -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantomastia, juvenile -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophy of the breast, juvenile -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophy of the breast, juvenile MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113670 -MONDO:0007238 amastia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113700 -MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amastia -MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amastia -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bnah1 -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia +MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophy of the breast, juvenile +MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophy of the breast, juvenile +MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantomastia, juvenile MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113800 -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis +MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amastia +MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amastia +MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic hyperkeratosis, late-onset MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous erythroderma ichthyosiformis congenita of brocq MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous ichthyosiform erythroderma -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic hyperkeratosis, late-onset -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113900 -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis +MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113800 MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, progressive -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary bundle branch system defect +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, nonprogressive -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113900 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067184 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0007243 Burkitt lymphoma skos:closeMatch OMIM:113970 burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bl MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020497 MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114000 MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861975 MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114030 -MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral, childhood-onset MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc, childhood-onset MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset +MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral, childhood-onset MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, hereditary painful MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, painful plantar -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861964 MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label callosities, hereditary painful -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 +MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114150 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 -MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streblodactyly -MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campd1 +MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly and knuckle pads -MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streblodactyly +MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 -MONDO:0007251 campomelic dysplasia skos:exactMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd -MONDO:0007251 campomelic dysplasia skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd1/sra1 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acampomelic campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acampomelic campomelic dysplasia MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C120205 Acampomelic Campomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acampomelic campomelic dysplasia -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861922 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acampomelic campomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acampomelic campomelic dysplasia with autosomal sex reversal +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd1/sra1 +MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861922 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia +MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220666 -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 +MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 MONDO:0007252 Gordon syndrome skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, cleft palate, and clubfoot -MONDO:0007252 Gordon syndrome skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da3 +MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cancer -MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast cancer -MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer +MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma caused by somatic mutation +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C3728 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7927 Liver and Intrahepatic Bile Duct Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liver and intrahepatic bile duct carcinoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C3728 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7927 Liver and Intrahepatic Bile Duct Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liver and intrahepatic bile duct carcinoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmct +MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007257 candidiasis, familial, 1 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114580 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676032 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114620 -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc1 -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 +MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfcs -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:605194 CFC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cfc1 -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:605194 CFC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc1 +MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007268 hypertrophic cardiomyopathy 4 skos:closeMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 4, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, idiopathic dilated -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial idiopathic -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial idiopathic MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm1 +MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenoma, familial cutaneous MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenoma, familial cutaneous MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406817 MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115250 -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercarotenemia and vitamin a deficiency, autosomal dominant -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotenoids, plasma level of, quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypercarotenemia and vitamin a deficiency, autosomal dominant +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotenoids, plasma level of, quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercarotenemia and vitamin a deficiency, autosomal dominant MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcvad +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, extraadrenal, and cervical paraganglioma MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors and multiple extraadrenal pheochromocytomas +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, familial extraadrenal MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, familial malignant -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl4 MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, hereditary extraadrenal -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, extraadrenal, and cervical paraganglioma -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, familial extraadrenal MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115310 MONDO:0007274 carpal displacement skos:closeMatch OMIM:115400 carpal displacement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal bossing MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpal tunnel syndrome -MONDO:0007275 carpal tunnel syndrome skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, thenar, of carpal origin -MONDO:0007275 carpal tunnel syndrome skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cts -MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, thenar, of carpal origin +MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 +MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22 partial tetrasomy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat eye syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmid-fraccaro syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22 partial tetrasomy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cat eye syndrome -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat eye syndrome -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115645 MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, aberrant oral frenula, and growth retardation MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, aberrant oral frenula, and growth retardation -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115645 +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 +MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007279 cataract 7 skos:closeMatch OMIM:115660 cataract 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 +MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115665 MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, crystalline aculeiform MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, punctate, progressive juvenile-onset -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, nonnuclear polymorphic congenital -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0007282 cataract 29 skos:closeMatch OMIM:115800 cataract 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctrct29 -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, crystalline aculeiform +MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007282 cataract 29 skos:closeMatch OMIM:115800 cataract 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 29, coralliform semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007283 cataract 42 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115900 MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 +MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, duffy-linked MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, duffy-linked +MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 -MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 -MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116600 -MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116700 -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 -MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, lamellar MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfa1 immunodeficiency -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfa1 immunodeficiency +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy, moderate, with hand involvement -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cco -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccd -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy, moderate, with hand involvement -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore disorder, moderate, with hand involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 +MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cco +MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363129 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bre MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bre +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 31 -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 16q22-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117210 -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 16q22-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 31 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861735 +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial danish -MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 +MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861732 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of cerebellar vermis MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital nonprogressive, autosomal dominant +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q35 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism MONDO:0007299 Sotos syndrome 1 skos:closeMatch NCIT:C75019 Sotos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome -MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome MONDO:0007300 cerebral sarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117600 -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccms -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrocostomandibular syndrome -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rib gap defects with micrognathia +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117650 MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265342 -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rib gap defects with micrognathia +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrocostomandibular syndrome +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:closeMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, posterior cervical, with underlying kyphoscoliosis MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal dominant -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118100 -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs1 +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118200 -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270912 MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, slow nerve conduction type, linked to duffy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn1 MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270912 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia1 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118210 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, slow nerve conduction type, linked to duffy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118210 +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia1 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia1 -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270911 +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118220 +MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270911 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy and deafness, autosomal dominant MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931686 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy and deafness, autosomal dominant MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267034 MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 -MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm +MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070535 +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118400 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 +MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 with syringomyelia MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 +MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 +MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085280 -MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille syndrome -MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arteriohepatic dysplasia +MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alagille syndrome +MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille-watson syndrome MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate arthropathy +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium gout MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis, familial articular MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccal2 +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate arthropathy MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:closeMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial apatite disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to vitamin k deficiency MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to warfarin teratogenicity +MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to vitamin k deficiency MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118651 MONDO:0007325 choreoathetosis, familial inverted skos:closeMatch OMIM:118750 choreoathetosis, familial inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile choreoathetosis of fisher MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118830 -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, cryptogenic -MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic tyrolean infantile cirrhosis MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper-overload cirrhosis MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper toxicosis, idiopathic -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with pulmonary hypertension -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, cryptogenic MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhosis, familial -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with pulmonary hypertension +MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle +MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118980 MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clavicle, pseudarthrosis of, congenital MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clavicle, pseudarthrosis of, congenital -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118980 -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft hand and absent tibia MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft hand and absent tibia +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119100 -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vdws -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vws1 MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome +MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vdws +MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119300 MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenitopopliteal syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym popliteal pterygium syndrome +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119500 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pps -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome +MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft, nonsyndromic MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, nonsyndromic +MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 -MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft, nonsyndromic -MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate -MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpi -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate +MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119540 +MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch NCIT:C87069 Cleft Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpi -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syngnathia -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 +MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syngnathia MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795898 MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syngnathia +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syngnathia +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119570 -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcds1 -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 +MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007340 cleidocranial dysplasia skos:closeMatch OMIM:119600 cleidocranial dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clcd +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 +MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008928 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 -MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008928 -MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 -MONDO:0007340 cleidocranial dysplasia skos:closeMatch OMIM:117000 central core disease of muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccd MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861515 MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119650 -MONDO:0007342 clubfoot skos:closeMatch NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly -MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccf -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 +MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital clubbing, isolated congenital -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital +MONDO:0007342 clubfoot skos:closeMatch NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubbing of digits MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropachy, hereditary +MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital clubbing, isolated congenital +MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119900 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coarctation of aorta MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coarctation of aorta +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003492 -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120040 MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration with progressive cataracts MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cochleosaccular degeneration with progressive cataracts -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120100 +MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120040 +MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold hypersensitivity -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas1 +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold-induced autoinflammatory syndrome, familial MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold urticaria, familial +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120100 MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold-induced autoinflammatory syndrome, familial -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, uveoretinal MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of iris, choroid, and retina -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, uveoretinal MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 MONDO:0007351 coloboma of macula skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agenesis of macula MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120300 MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-coloboma syndrome +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillorenal syndrome MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillorenal syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paprs -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic coloboma, vesicoureteral reflux, and renal anomalies MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852759 +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic coloboma, vesicoureteral reflux, and renal anomalies MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120330 -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852752 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120400 -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morning glory disc anomaly MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve head pits, bilateral congenital +MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly +MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cob1 -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795902 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 +MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:120435 lynch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coca1 +MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120502 MONDO:0007360 branchiootic syndrome 2 skos:closeMatch OMIM:120502 branchiootic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod retinal dystrophy -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120970 MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy +MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy +MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod retinal dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone-rod dystrophy -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220668 +MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120970 +MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220668 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractural arachnodactyly, congenital MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractural arachnodactyly, congenital -MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cca +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractural arachnodactyly, congenital +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 MONDO:0007364 arthrogryposis, distal, type 2E skos:closeMatch OMIM:121070 arthrogryposis, distal, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures of fingers and jaw MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns1 -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns2 +MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121201 MONDO:0007367 febrile seizures, familial, 1 skos:closeMatch OMIM:121210 febrile seizures, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 -MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper deficiency, familial benign -MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label copper deficiency, familial benign +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypocupremia -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coproporphyria, hereditary -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 +MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label copper deficiency, familial benign +MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper deficiency, familial benign MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpo deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx deficiency +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coproporphyria, hereditary +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coproporphyria, hereditary +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpox deficiency -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcp MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harderoporphyria +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harderoporphyria -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coproporphyria, hereditary -MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cna1 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121400 MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:closeMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band keratopathy with deafness -MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch OMIM:604031 SCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scd -MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch OMIM:604031 SCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scd -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, schnyder -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, crystalline, of schnyder -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, crystalline, of schnyder +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, schnyder MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial basement membrane MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, microcystic MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, anterior basement membrane MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, epithelial basement membrane MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121820 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fleck MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, francois-neetens speckled or flecked -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fleck -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fleck -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cfd +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 MONDO:0007377 granular corneal dystrophy type I skos:closeMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, punctate or nodular -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgg1 MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1641846 -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcd1 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior polymorphous corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 -MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meesmann corneal dystrophy -MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meesmann corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial +MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339277 -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch OMIM:122200 corneal dystrophy, lattice iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcd -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch OMIM:122200 corneal dystrophy, lattice iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl1 +MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122200 +MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 +MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122400 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal erosions, recurring hereditary -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122430 MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930866 -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneodermatoosseous syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial, with skin and skeletal changes -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigeminal anesthesia, familial -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia, familial +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia, familial -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia, familial MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery dissection, spontaneous MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coronary artery dissection, spontaneous +MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym typus degenerativus amstelodamensis MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls1 +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym typus degenerativus amstelodamensis MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costocoracoid ligament, congenitally short -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label costocoracoid ligament, congenitally short MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation anomalies +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label costocoracoid ligament, congenitally short +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costocoracoid ligament, congenitally short +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysplasia +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with or without rib anomalies -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation anomalies MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo5 -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin resistance MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin, poor metabolism of -MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin sensitivity MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin sensitivity +MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin sensitivity MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852513 MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122780 -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 +MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dysostosis with diaphyseal hyperplasia MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysostosis with diaphyseal hyperplasia MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122900 MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432263 -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmdd -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123050 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852501 -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs1 MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis +MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123150 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch OMIM:123150 jackson-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, midfacial hypoplasia, and foot abnormalities -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdcph1 -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, autosomal dominant -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, autosomal dominant MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123155 +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, autosomal dominant +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, autosomal dominant MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperckemia, idiopathic MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpk, elevated serum -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cjd -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, sporadic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, heidenhain variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 5p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123450 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 5p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat cry syndrome +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123500 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852456 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340992 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343208 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryoglobulinemia, familial mixed MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryoglobulinemia, familial mixed -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340992 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343208 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852456 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptomicrotia-brachydactyly syndrome MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852454 -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with microphthalmia and peters anomaly +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptomicrotia-brachydactyly syndrome +MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 +MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852453 MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos, unilateral or bilateral, isolated MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos, unilateral or bilateral, isolated +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with microphthalmia and peters anomaly MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon, simple -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852453 MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123700 -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bstvs -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis gyrata syndrome of beare and stevenson MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beare-stevenson syndrome +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis gyrata syndrome of beare and stevenson MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123790 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852406 -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123853 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123853 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyprus facial neuromusculoskeletal syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyprus facial neuromusculoskeletal syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 -MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic angiomatosis of bone, diffuse -MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic angiomatosis of bone, diffuse MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123880 MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071283 MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, massive -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn1 +MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic angiomatosis of bone, diffuse +MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic angiomatosis of bone, diffuse MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 -MONDO:0007416 Balkan nephropathy skos:closeMatch OMIM:124100 danubian endemic familial nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defn +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 MONDO:0007416 Balkan nephropathy skos:closeMatch OMIM:124100 danubian endemic familial nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathia epidemica MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar -MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar -MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier disorder, segmental semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023369 +MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier disorder, segmental semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 -MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian notch MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian point of pinna -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome +MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian notch MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with onychodystrophy, autosomal dominant +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with onychodystrophy, autosomal dominant -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with onychodystrophy, autosomal dominant +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive stapedial, with ear malformation and facial palsy MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive stapedial, with ear malformation and facial palsy MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124490 -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with keratopachydermia and constrictions of fingers and toes -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vownkl -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124500 -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna1 +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with keratopachydermia and constrictions of fingers and toes MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852278 MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125230 +MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852278 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy plus syndrome -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125250 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dominant optic atrophy plus syndrome +MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125250 MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casil -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cadasil -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cadasil -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unerupted second primary molar +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior openbite malocclusion, familial MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label failure of tooth eruption, primary -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental noneruption -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852222 +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior openbite malocclusion, familial +MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852222 +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unerupted second primary molar MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125370 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125370 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia +MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399379 +MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 +MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 MONDO:0007436 dentin dysplasia type I skos:closeMatch OMIM:125400 dentin dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rootless teeth MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulpal dysplasia MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous dysplasia of dentin -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentin dysplasia with sclerotic bones +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentin dysplasia with sclerotic bones +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentin dysplasia with sclerotic bones MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, autosomal -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-ii -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi1 -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, autosomal +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-ii +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-iii MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125500 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125520 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial paresis, partial, unilateral +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric crying facies MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym depressor anguli oris muscle, hypoplasia of -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cayler cardiofacial syndrome -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial paresis, partial, unilateral -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch OMIM:125595 dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpr +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125520 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 +MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermographism, familial +MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 +MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory angioedema +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatographism, familial MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermographism, familial -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vbu -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermographism, familial MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory angioedema -MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125640 -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoodontodysplasia -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch OMIM:125640 dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoodontodysplasia -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch OMIM:125640 dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoodontodysplasia MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852144 -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, neurohypophyseal -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, neurohypophyseal -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, primary central MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurogenic diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, neurohypophyseal MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, primary central +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, neurohypophyseal MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic diabetes insipidus -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125850 -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125851 MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch OMIM:125851 maturity-onset diabetes of the young, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mody, glucokinase-related +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125851 MONDO:0007454 type 1 diabetes mellitus 2 skos:closeMatch OMIM:125852 iia 1 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar drift, hereditary +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, partial -MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinoidism, oculocutaneous, autosomal dominant +MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation +MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, partial MONDO:0007460 discrimination, Two-point, reduction 1N skos:closeMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory discrimination -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disproportionate short stature with ptosis and valvular heart lesions -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disproportionate short stature with ptosis and valvular heart lesions MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126190 -MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ms -MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis, susceptibility to -MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple sclerosis, susceptibility to +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disproportionate short stature with ptosis and valvular heart lesions +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disproportionate short stature with ptosis and valvular heart lesions MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis -MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch NCIT:C69169 Ms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ms +MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple sclerosis, susceptibility to +MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis, susceptibility to MONDO:0007463 distal osteosclerosis skos:closeMatch OMIM:126250 distal osteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, distal -MONDO:0007466 DNA, satellite, 3 skos:closeMatch OMIM:126370 dna, satellite, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hs3 -MONDO:0007466 DNA, satellite, 3 skos:closeMatch OMIM:126370 dna, satellite, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d1z1 MONDO:0007467 DNA, low-repetitive sequences of skos:closeMatch OMIM:126390 dna, low-repetitive sequences of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym repetitive sequence dna -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doughnut lesions of skull, familial -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852022 +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doughnut lesions of skull, familial +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126600 -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852020 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832174 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial drusen -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant -MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852020 MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, early adult-onset, grouped +MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126700 -MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 -MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane syndrome -MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome -MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym drs -MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:603154 PNN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym drs MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013799 -MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dupuytren contracture -MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromatosis, familial +MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly +MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome +MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane syndrome MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromas MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gloomy face syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym le merrer syndrome +MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dupuytren contracture +MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromatosis, familial +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dwarfism with tall vertebrae -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym 3m1 MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs2 -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym le merrer syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gloomy face syndrome +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 +MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:closeMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moore-federman syndrome MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265309 MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127300 -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym madelung deformity -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 +MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851986 -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyschondrosteosis and nephritis +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis and nephritis +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyschondrosteosis and nephritis MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127400 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406775 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406775 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschromatosis symmetrica hereditaria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsh MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symmetric dyschromatosis of the extremities -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:601225 DVL1L1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsh -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch NCIT:C18064 Rad semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rad -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127550 -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschromatosis symmetrica hereditaria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement +MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 +MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127550 +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis, hereditary benign intraepithelial MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265966 MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dkbi -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis, hereditary benign intraepithelial MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyskeratosis, hereditary benign intraepithelial -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyx1 -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym word-blindness, congenital -MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder with gaze palsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lewy body variant of alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dementia, lewy body -MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, lewy body +MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder with gaze palsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, lewy body +MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432282 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300233 -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysplasia epiphysealis hemimelica with chondromas and osteochondromas +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127820 +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysplasia epiphysealis hemimelica with chondromas and osteochondromas MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia epiphysealis hemimelica with chondromas and osteochondromas -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal MONDO:0007491 dystelephalangy skos:closeMatch OMIM:128000 dystelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirner deformity -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888090 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888090 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset primary dystonia MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851943 -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 +MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860315 -MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whispering dysphonia, hereditary MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, progressive, with diurnal variation -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drd -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant +MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, progressive, with diurnal variation +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal dominant +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive +MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868681 MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128235 -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868681 +MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism +MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement MONDO:0007496 dystonia 12 skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, rapid-onset MONDO:0007498 ear exostoses skos:closeMatch OMIM:128300 ear exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exostoses of external auditory canal MONDO:0007500 ear malformation skos:closeMatch OMIM:128600 ear malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cup ear -MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear pits MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pafc -MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior helical ear pits +MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear pits MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe indentations, posterior +MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior helical ear pits MONDO:0007503 ear without helix skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128800 -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobes, thickened, with conductive deafness from incudostapedial abnormalities MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label earlobes, thickened, with conductive deafness from incudostapedial abnormalities +MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobes, thickened, with conductive deafness from incudostapedial abnormalities MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 MONDO:0007505 earring holes, natural skos:closeMatch OMIM:129000 earring holes, natural semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe sinuses MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhs -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with cleft lip/palate +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with cleft lip/palate MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd10a MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant +MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clouston hidrotic ectodermal dysplasia MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, autosomal dominant -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851858 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129510 +MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851858 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129600 MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:closeMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eec syndrome without cleft lip/palate MONDO:0007517 ectrodactyly-cleft palate syndrome skos:closeMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecp syndrome -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129850 MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795933 -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eec +MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129850 MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129900 -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eec MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type i -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 +MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, gravis type, formerly -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type i +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130020 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypermobility syndrome -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome -MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsvasc +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypermobility syndrome +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130050 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrochalasia ehlers-danlos syndrome +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsarth1 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeds -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch OMIM:274600 pendred syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pds +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym proteodermatan sulfate, defective biosynthesis of -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xylosylprotein type 4-beta-galactosyltransferase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pds, defective biosynthesis of -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome with short stature and limb anomalies -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pds, defective biosynthesis of MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dermatan sulfate proteoglycan +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xylosylprotein type 4-beta-galactosyltransferase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym proteodermatan sulfate, defective biosynthesis of MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1869122 -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylodysplastic ehlers-danlos syndrome -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym edsspd1 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peds +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylodysplastic ehlers-danlos syndrome +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontal eds MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peds MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elastoma intrapapillare perforans verruciformis MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eps MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miescher elastoma -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 -MONDO:0007533 elliptocytosis 2 skos:closeMatch OMIM:130600 elliptocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym el2 MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130600 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050344 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beckwith-wiedemann syndrome chromosome region -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emg syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beckwith-wiedemann syndrome chromosome region +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050344 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010456 -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265797 +MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emphysema, congenital lobar MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emphysema, congenital lobar -MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emphysema, congenital lobar -MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:610858 RTRAF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cle -MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cle +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265797 +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms -MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lmns MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:603543 limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130720 @@ -4434,2992 +4044,2644 @@ MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ai3a MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130950 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:613733 MEN1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label men1 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028190 +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131100 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym men1 somatic mutations -MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:613733 MEN1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym men1 +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine adenomatosis, multiple MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mea type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 -MONDO:0007541 endometriosis, susceptibility to, 1 skos:closeMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endo1 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ced +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028190 +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal dysplasia type 1, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caend MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym engelmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ced -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 -MONDO:0007543 enolase, sperm specific skos:closeMatch OMIM:131375 ENO4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eno4 -MONDO:0007543 enolase, sperm specific skos:closeMatch OMIM:131375 ENO4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eno4 -MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:613797 PRSS33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos +MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:606239 IKZF4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos -MONDO:0007545 Eosinophilopenia skos:closeMatch OMIM:131430 eosinophilopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil aplasia -MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilopenia MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilopenia -MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131440 -MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpe +MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilopenia +MONDO:0007545 Eosinophilopenia skos:closeMatch OMIM:131430 eosinophilopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil aplasia MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophils, malignant proliferation of -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, neonatal -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, neonatal form +MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131440 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131705 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbdn -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal dominant -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal dominant +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, neonatal +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, neonatal form +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131750 -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddeb -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albopapuloid dominant dystrophic epidermolysis bullosa MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal dominant +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albopapuloid dominant dystrophic epidermolysis bullosa +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal dominant +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal dominant MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131760 MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa simplex, dowling-meara type MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa of hands and feet MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs, acral form MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131800 MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, pretibial -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, pretibial -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131950 -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131960 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering -MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boe -MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, benign occipital -MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign occipital -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851549 +MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 +MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign occipital +MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, benign occipital +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, photogenic +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppr MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoconvulsive reaction -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 +MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278193 +MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132300 MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, reading MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, reading -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132300 -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278193 -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, comp-related -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:604311 MED1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label med1 MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:604311 MED1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym med1 -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with myopia and conductive deafness -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmmd +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with myopia and conductive deafness MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with myopia and conductive deafness +MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035040 MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 -MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:605018 CYLD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyld -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ancell-spiegler cylindromas +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromatosis, familial MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromas, dermal eccrine -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:605018 CYLD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyld +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ancell-spiegler cylindromas +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindromatosis, familial MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromatosis, familial -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindromatosis, familial -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferguson-smith-type epithelioma -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple self-healing squamous epithelioma, susceptibility to MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple self-healing squamous epithelioma, susceptibility to +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple self-healing squamous epithelioma, susceptibility to +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132800 -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat4 -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm/aortic dissection and patent ductus arteriosus -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faa4 +MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851502 MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133000 -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythermalgia, primary +MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, small fiber +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, familial MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythermalgia, primary -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, primary -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythermalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014805 -MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy +MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt1 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, autosomal dominant benign MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, primary familial and congenital MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133100 +MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133180 MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di guglielmo disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous, m6 -MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133180 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133190 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133190 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 +MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal squamous cell carcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, susceptibility to +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escc, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cardia adenocarcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546837 -MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escc, susceptibility to MONDO:0007581 exchondrosis of pinna, posterior skos:closeMatch OMIM:133500 exchondrosis of pinna, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear bump MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133690 MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851428 -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:608177 EXT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 +MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ext2 +MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133701 -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external auditory canal, bilateral atresia of, with congenital vertical talus +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label external auditory canal, bilateral atresia of, with congenital vertical talus +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930867 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label external auditory canal, bilateral atresia of, with congenital vertical talus +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external auditory canal, bilateral atresia of, with congenital vertical talus MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851412 MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133750 MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr1 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, autosomal dominant MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, autosomal dominant -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, autosomal dominant +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851402 MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851402 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome +MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch NCIT:C34982 Retinopathy of Prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia +MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial hemihypertrophy MONDO:0007590 hemifacial hypertrophy skos:closeMatch NCIT:C84702 Facial Asymmetry semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial asymmetry +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry +MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 +MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851399 MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, familial recurrent peripheral MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial palsy, familial recurrent peripheral -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851399 -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:closeMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia with elevated factor type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f8f9d +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome -MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frts1 MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf, autosomal dominant -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134750 -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015773 +MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016386 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015773 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134750 +MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135100 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birt-hogg-dubé syndrome -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067736 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346010 -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch OMIM:135150 birt-hogg-dube syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhd +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch OMIM:135150 birt-hogg-dube syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhd -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079218 +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, familial infiltrative +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingf1 -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggf1 -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingf MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135300 -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized, with or without gingival hyperplasia +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis terminalis, generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htc3 -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with hypertrichosis MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with hypertrichosis MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with progressive deafness MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with progressive deafness MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingival fibromatosis with sensorineural hearing loss -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom1 +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tukel syndrome -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror-image polydactyly -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibula and ulna, duplication of, with absence of tibia and radius +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tukel syndrome MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetramelic mirror-image polydactyly -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lss -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:600909 LSS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lss MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurin-sandrow syndrome, segmental +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:600909 LSS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lss +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibula and ulna, duplication of, with absence of tibia and radius MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135750 -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135900 -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror-image polydactyly MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135900 MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch NCIT:C35321 Coffin-Siris Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome -MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label finger locking, recurrent, with intrauterine growth retardation and proportionate short stature -MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931545 +MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 +MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature +MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label finger locking, recurrent, with intrauterine growth retardation and proportionate short stature MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136000 -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcata deficiency -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslipoproteinemic corneal dystrophy -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342895 +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lcat deficiency MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcata deficiency +MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslipoproteinemic corneal dystrophy MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lcat deficiency +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flhs MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343108 -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlear nerve palsy, familial congenital -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 +MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 +MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343108 MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fourth cranial nerve palsy, familial congenital -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850996 MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus from superior oblique palsy +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fourth cranial nerve palsy, familial congenital +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850996 +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlear nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superior oblique oculomotor palsy, familial congenital MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary symmetrical aplastic nevi of temples -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch OMIM:136520 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fvh1 +MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 MONDO:0007628 foveal hypoplasia 1 skos:closeMatch OMIM:136520 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 1 with or without anterior segment anomalies and/or cataract semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 +MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal pigment epithelial dystrophy, central MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal pigment epithelial dystrophy, central -MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site type 16p12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site, distamycin a type, rare, fra(16)(p12.1) +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950122 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136680 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fnd1 -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 +MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136680 +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal malformation -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median facial cleft syndrome +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia -MONDO:0007636 frontorhiny skos:closeMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median facial cleft syndrome MONDO:0007636 frontorhiny skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia -MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fecd1 +MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 +MONDO:0007636 frontorhiny skos:closeMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia +MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136800 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, early-onset MONDO:0007638 fucosidase regulator skos:closeMatch OMIM:136830 fucosidase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-l-fucosidase regulator -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy +MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus dystrophy, pseudoinflammatory, of sorsby +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, hemorrhagic -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder, agenesis of +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus dystrophy, pseudoinflammatory, of sorsby MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder, agenesis of +MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder, agenesis of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-a-globulin, selective deficiency of -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch NCIT:C123434 Immunoglobulin A Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromyotonia and axonal neuropathy, autosomal recessive -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia, myotonia, and muscle wasting -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuromyotonia and axonal neuropathy, autosomal recessive -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nman MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive axonal neuropathy with neuromyotonia +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromyotonia and axonal neuropathy, autosomal recessive MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137200 +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuromyotonia and axonal neuropathy, autosomal recessive +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia, myotonia, and muscle wasting MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708349 -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 +MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 +MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060707 -MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 +MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch OMIM:137270 gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017155 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menetrier disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastritis, familial giant hypertrophic +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menetrier disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300229 +MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007654 genu valgum, st. Helena familial skos:closeMatch OMIM:137370 genu valgum, st. helena familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genu valgum, hereditary pubertal -MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossitis, benign migratory +MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch NCIT:C119047 Erythema Migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema migrans -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, prnp-related -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, cerebral, with spongiform encephalopathy -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137440 MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, prnp-related +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, cerebral, with spongiform encephalopathy MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 -MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cemental dysplasia, periapical +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantiform cementoma, familial -MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial +MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cemental dysplasia, periapical MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cementomas, familial multiple -MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gts -MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette disorder +MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic motor tics +MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette disorder MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch OMIM:137600 anterior segment dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with early-onset glaucoma, autosomal dominant -MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch OMIM:137600 anterior segment dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asgd4 MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137600 -MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc1a -MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, open angle, type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, open angle, type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137750 MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842025 MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137763 +MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subependymoma -MONDO:0007667 subependymoma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0007667 subependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0007667 subependymoma skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma -MONDO:0007667 subependymoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fjhn, atypical +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431693 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch OMIM:613372 UFL1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcad -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fjhn, atypical -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gfnd2 -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gfnd1 MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gvm -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, multiple +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomas, multiple -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, multiple +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841984 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 MONDO:0007672 glomuvenous malformation skos:closeMatch NCIT:C27496 Glomangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomangiomatosis -MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:closeMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym g6pdl +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:closeMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trans-stilbene oxide glutathione transferase activity MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate nephrolithiasis MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate urolithiasis -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138770 +MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 MONDO:0007679 GMS syndrome skos:closeMatch OMIM:138770 gms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goniodysgenesis--mental retardation--short stature syndrome -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mng/crd/da -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841853 MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138790 +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841853 +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138800 MONDO:0007682 granddad syndrome skos:closeMatch OMIM:138920 granddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007686 gray platelet syndrome skos:closeMatch OMIM:139090 gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717750 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139090 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007687 graying of hair, precocious skos:closeMatch OMIM:139100 graying of hair, precocious semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white hair, premature -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myhrs -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myhre syndrome +MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngotracheal stenosis, arthropathy, prognathism, and short stature MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth-mental deficiency syndrome of myhre -MONDO:0007688 Myhre syndrome skos:closeMatch NCIT:C123815 Myhre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome +MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796081 MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139210 -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome -MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007688 Myhre syndrome skos:closeMatch NCIT:C123815 Myhre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guk3 -MONDO:0007690 aromatase excess syndrome skos:closeMatch OMIM:139300 aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aromatase activity, increased +MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139300 +MONDO:0007690 aromatase excess syndrome skos:closeMatch OMIM:139300 aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aromatase activity, increased MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970109 MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139393 -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbs -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch OMIM:139393 guillain-barre syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbs -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aidp MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch OMIM:139600 hairy elbows semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis cubiti MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841696 MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068636 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch OMIM:139600 hairy elbows semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis cubiti -MONDO:0007694 hairy nose tip skos:closeMatch OMIM:607938 NTM semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hnt MONDO:0007695 hairy palms and soles skos:closeMatch OMIM:139650 hairy palms and soles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym circumscribed hairy dysembryoplasia of palms -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841693 -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hand and foot deformity with flat facies +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand and foot deformity with flat facies -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841679 +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hand and foot deformity with flat facies MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072361 -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch OMIM:140000 hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfg -MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto struma -MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ht -MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid autoantibodies +MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841679 +MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, autoimmune +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid autoantibodies MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ht +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto struma MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931042 -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 +MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140400 -MONDO:0007701 progressive familial heart block type II skos:closeMatch OMIM:140400 progressive familial heart block, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfhbii MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841657 MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140450 -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heberden nodes -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dipoa MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of distal interphalangeal joints MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand osteoarthritis -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os2 -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oadip -MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heinz body anemias +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dipoa +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heberden nodes MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heinz body anemias +MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heinz body anemias MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sternal nonunion with supraumbilical raphe MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiomas, cavernous, of face and supraumbilical midline raphe -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomas, cavernous, of face and supraumbilical midline raphe MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym raphe, supraumbilical midline, with cavernous facial hemangiomas -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221025 +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomas, cavernous, of face and supraumbilical midline raphe MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141000 +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221025 MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058423 -MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin-basement-membrane nephropathy -MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfh MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin membrane nephropathy +MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin-basement-membrane nephropathy +MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy +MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial atrophy, progressive MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015458 MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141300 -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha -MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial atrophy, progressive MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial atrophy, progressive -MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfa -MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:169400 pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha -MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 -MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia with strabismus MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia with strabismus -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldenhar syndrome with ipsilateral radial defect +MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia with strabismus +MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 +MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oavs with radial defect +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia with radial defects MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141400 -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum with radial defect -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia with radial defects -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oavs with radial defect +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldenhar syndrome with ipsilateral radial defect +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial spasm, familial MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm, familial +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475813 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, deletion-type MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, chromosome type 16-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atr, deletion-type MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h-related mental retardation MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hemoglobin h -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475813 MONDO:0007718 hepatic adenomas, familial skos:closeMatch OMIM:142330 hepatic adenomas, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cell adenomas, familial -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, congenital diaphragmatic MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defect, congenital -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, congenital MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, complete agenesis of +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, congenital diaphragmatic +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, congenital MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, unilateral agenesis of MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemidiaphragm, agenesis of MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, hiatus MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hernia, hiatus -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142623 +MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirsutism, skeletal dysplasia, and mental retardation MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirsutism, skeletal dysplasia, and mental retardation -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, progressive mucinous MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, progressive mucinous -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhd +MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy, premature degenerative, of hip MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beukes hip dysplasia -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:135150 birt-hogg-dube syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhd -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beukes hip dysplasia -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodic fever, familial, autosomal dominant -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumor necrosis factor receptor-associated periodic syndrome +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnf receptor-associated periodic syndrome MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hibernian fever, familial -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fpf +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodic fever, familial, autosomal dominant MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142680 -MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial -MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acninv1 MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hidradenitis suppurativa, familial +MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip dysplasia, developmental -MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome -MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holt-oram syndrome -MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hos1 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050469 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch NCIT:C125592 Holt-Oram Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hos1 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 -MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142945 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch NCIT:C125592 Holt-Oram Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome MONDO:0007733 holoprosencephaly 3 skos:closeMatch OMIM:142945 holoprosencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlp3 +MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142945 MONDO:0007734 holoprosencephaly 4 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142946 MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840475 MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 -MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym horner syndrome, congenital MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label horner syndrome, congenital -MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:closeMatch OMIM:604724 HPSE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa1 -MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:closeMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa1 +MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym horner syndrome, congenital MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:closeMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym restriction fragment length polymorphism, sickle cell anemia-related -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humeroradial synostosis -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeroradial synostosis -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym humeroradial synostosis -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143050 -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with congenital joint dislocations -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedcjd +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143095 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020179 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinal degeneration -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaloideoretinal degeneration of wagner MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erosive vitreoretinopathy MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinopathy -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaloideoretinal degeneration of wagner -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wgvrp MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagner vitreoretinopathy -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 -MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htor -MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 5-hydroxytryptamine oxygenase regulator +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-hydroxytryptamine oxygenase regulator +MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 5-hydroxytryptamine oxygenase regulator MONDO:0007743 attention deficit-hyperactivity disorder skos:closeMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperactivity of childhood -MONDO:0007743 attention deficit-hyperactivity disorder skos:closeMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhd +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdlcq10 -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester transfer protein deficiency -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein cholesterol level quantitative trait locus type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein cholesterol level quantitative trait locus type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester transfer protein deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym halp1 +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency MONDO:0007745 Gilbert syndrome skos:closeMatch OMIM:143500 gilbert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbradykininism MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic hypotensive disorder -MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohds MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143860 MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143870 -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:609163 HCAR2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca2 -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca2 MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, familial idiopathic -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-low-density-lipoproteinemia MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhc -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:134770 FTH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhc +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-low-density-lipoproteinemia +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch NCIT:C176014 Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial defective MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial ligand-defective MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, familial, due to ligand-defective apolipoprotein b MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144010 -MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperhidrosis, gustatory MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculotemporal nerve syndrome MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, gustatory -MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyprg +MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperhidrosis, gustatory MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:closeMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, primary palmar MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071311 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263420 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch OMIM:144150 hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlp +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263420 +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071311 MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840428 MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144190 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, epidermolytic palmoplantar +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris familiaris +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratosis, localized epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, epidermolytic palmoplantar +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial combined hyperlipidemia MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144250 MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate-inducible hyperlipemia MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch NCIT:C34711 Fredrickson Type IV Lipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fredrickson type iv lipidemia +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, combined fat and carbohydrate-induced +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, late-onset MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, mixed MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia with hyperprebetalipoproteinemia, familial -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, late-onset -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, combined fat and carbohydrate-induced MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, nonpapillary -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ccrcc +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell carcinoma +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell adenocarcinoma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonpapillary renal carcinoma type 1 locus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch NCIT:C4033 Clear Cell Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clear cell renal cell carcinoma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcc MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcc -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal dominant +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonpapillary renal carcinoma type 1 locus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperostosis corticalis generalisata, benign form of worth, with torus palatinus +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endosteal hyperostosis, autosomal dominant -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch OMIM:144755 hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcin MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144755 MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144800 -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrpt1 +MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial isolated primary MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenoma, familial -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145001 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:607393 CDC73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrpt2 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrpt2 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenomatosis, familial cystic MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism-jaw tumor syndrome, hereditary MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704981 +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism-jaw tumor syndrome, hereditary +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenomatosis, familial cystic MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation of eyelids MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation of eyelids -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835039 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fphh +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fphh -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive hyperkalemia, familial MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpotassemia and hypertension, familial -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive hyperkalemia, familial MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 MONDO:0007773 hyperproglucagonemia skos:closeMatch OMIM:145270 hyperproglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucagon, large molecular weight species of -MONDO:0007774 hyperreflexia skos:closeMatch OMIM:145290 hyperreflexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrx -MONDO:0007774 hyperreflexia skos:closeMatch OMIM:159555 KMT2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrx MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperreflexia MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperreflexia MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145300 +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome, opitz phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-frias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eht +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:closeMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farmer syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs1 +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpyrexia, malignant +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone resistance, selective pituitary -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145650 +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone resistance, selective pituitary MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch NCIT:C131216 Pituitary Resistance to Thyroid Hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary resistance to thyroid hormone +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance, selective pituitary -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, dysprealbuminemic -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthryroidal hyperthyroxinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dttrh MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145680 +MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthryroidal hyperthyroxinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, dysprealbuminemic +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized hypertrichosis, ambras type +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840362 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840362 -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized hypertrichosis, ambras type +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 semapv:RegularExpressionReplacement MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145900 +MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalciuric hypercalcemia, acquired -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial benign -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 +MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840347 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 +MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146000 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410529 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020967 -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146000 -MONDO:0007793 hypochondroplasia skos:closeMatch OMIM:146000 hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hch -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146110 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic hypogonadotropic hypogonadism MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, isolated hypogonadotropic -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh7 -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146110 MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146160 +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-uterus syndrome MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelia with mullerian duct anomalies MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelia with mullerian duct anomalies -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-uterus syndrome -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 +MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840333 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146255 MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis, nerve deafness, and hypoparathyroidism -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome -MONDO:0007799 hypophosphatemic bone disease skos:closeMatch OMIM:142000 HBD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hbd -MONDO:0007799 hypophosphatemic bone disease skos:closeMatch OMIM:142000 HBD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbd -MONDO:0007799 hypophosphatemic bone disease skos:closeMatch OMIM:146350 hypophosphatemic bone disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbd -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840333 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146390 +MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146450 -MONDO:0007802 hypospadias 3, autosomal skos:closeMatch OMIM:146450 hypospadias 3, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hysp3 -MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotension, orthostatic -MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autonomic failure, pure -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146500 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064060 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 +MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotension, orthostatic +MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autonomic failure, pure +MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265220 -MONDO:0007805 hypotrichosis 2 skos:closeMatch OMIM:146520 hypotrichosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htss +MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 +MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146520 -MONDO:0007805 hypotrichosis 2 skos:closeMatch OMIM:146520 hypotrichosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt2 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch OMIM:146590 ichthyosis hystrix, curth-macklin iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihcm +MONDO:0007805 hypotrichosis 2 skos:closeMatch OMIM:146520 hypotrichosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htss MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840296 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146590 +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 MONDO:0007809 ichthyosis hystrix gravior skos:closeMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcupine man -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis simplex -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis--cheek--eyebrow syndrome -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis--cheek--eyebrow syndrome MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis--cheek--eyebrow syndrome MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, autosomal dominant MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146750 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146800 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibs MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146830 +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige, level of MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige response underlying allergic asthma and rhinitis -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic hypersensitivity +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ige responsiveness, atopic -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige, level of -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iger -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147060 -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary median maxillary central incisor MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused incisors MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary median maxillary central incisor -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary median maxillary central incisor +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym single central maxillary incisor -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smmci syndrome -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 -MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused mandibular MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'double tooth' MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label incisors, fused mandibular +MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused mandibular +MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 MONDO:0007826 incisors, shovel-shaped skos:closeMatch OMIM:147400 incisors, shovel-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinodonty -MONDO:0007827 inclusion body myositis skos:closeMatch OMIM:147421 inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238190 MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147421 +MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066407 +MONDO:0007827 inclusion body myositis skos:closeMatch OMIM:147421 inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm +MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238190 MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsis -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal dominant -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, autosomal dominant +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal dominant MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, pregnancy-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icp1 MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147480 MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus -MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus -MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insdm -MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus +MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis +MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intussusception MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147750 -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootoradial syndrome MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia -MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oors +MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia +MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 +MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147750 +MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796002 +MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796002 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch OMIM:147770 johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadh syndrome -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbs -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147791 MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795841 -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbs -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbs +MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147791 +MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147800 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063429 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220686 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures with other abnormalities MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147800 -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063429 -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147891 MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840061 -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icpps -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps +MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147891 +MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds11, formerly MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articular hypermobility syndrome -MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268349 -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuk1 -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch NCIT:C124837 Kabuki Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147920 MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh2 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric castleman disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to +MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 +MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0007846 KBG syndrome skos:closeMatch OMIM:148050 kbg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies -MONDO:0007846 KBG syndrome skos:closeMatch OMIM:148050 kbg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kbgs -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220687 -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148050 -MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis, hereditary -MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis, hereditary -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220687 MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis, hereditary +MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis, hereditary MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria -MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kefh -MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148210 -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal dominant +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal dominant -MONDO:0007851 keratoconus 1 skos:closeMatch OMIM:148300 keratoconus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktcn1 -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal dominant +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148210 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835672 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoderma, palmoplantar, with deafness -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with palmoplantar keratoderma and nail dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with palmoplantar keratoderma and nail dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axonal neuropathy with palmoplantar keratoderma -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148370 +MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 +MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oudtshoorn skin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kwe -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toc +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis with esophageal cancer -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmaris et plantaris with clinodactyly +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with clinodactyly -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835663 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148520 -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kppp1 -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris papulosa -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkp1a +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmaris et plantaris with clinodactyly +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835663 MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratodermia palmoplantaris papulosa, buschke-fischer-brauer type MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppks1 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma i, striate, focal, or diffuse -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris striata type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kppp1 +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris papulosa MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma i, striate, focal, or diffuse -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma i, striate, focal, or diffuse +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris striata type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835650 -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, focal palmoplantar and gingival MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, focal palmoplantar and gingival +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, focal palmoplantar and gingival MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome -MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleeblattschaedel MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleeblattschadel -MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleeblattschaedel -MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 -MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch OMIM:612963 DCTN6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ws3 MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleine-levin hibernation syndrome MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleine-levin hibernation syndrome MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051452 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktw syndrome MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022739 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label knuckle pads MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149200 +MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia, hereditary +MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia with leukonychia MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia with leukonychia MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spoon nails -MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc2 +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated +MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 +MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthe MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exaggerated startle reaction MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome, congenital -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome, congenital -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-baby syndrome -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimal duct defect -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcdd MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal duct defect -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal puncta, absence of MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasolacrimal duct obstruction -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcdd +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimal duct defect MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal puncta, absence of +MONDO:0007872 LADD syndrome skos:closeMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome +MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimoauriculodentodigital syndrome MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149730 MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265269 -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimoauriculodentodigital syndrome -MONDO:0007872 LADD syndrome skos:closeMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050638 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023003 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050638 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps2 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150250 MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175778 -MONDO:0007875 Larsen syndrome skos:closeMatch OMIM:150250 larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrs -MONDO:0007875 Larsen syndrome skos:closeMatch OMIM:151350 LARS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrs +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labd MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis +MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150260 -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0007877 laryngeal adductor paralysis skos:exactMatch NCIT:C122027 Lap semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lap -MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060786 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 -MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngomalacia MONDO:0007878 congenital laryngomalacia skos:closeMatch NCIT:C98971 Laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia +MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia +MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngomalacia +MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larynx, congenital partial atresia of -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150300 MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larynx, congenital partial atresia of -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 +MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150300 +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal web, familial +MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal web, familial +MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glottic web, congenital anterior MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic bar MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic web -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal web, familial -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 4, with or without ectodermal dysplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, absence of MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, pegged or missing -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthag4 -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 4, with or without ectodermal dysplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150400 MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succedaneous teeth, agenesis of +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150400 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcp -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calvé-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10WHO:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10CM:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcpd +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyoma, uterine MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, uterine -MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ul -MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:112000 blood group--ul system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ul -MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophagogastric and vulvar MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150700 +MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophagogastric and vulvar +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis and renal cell cancer, hereditary MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cutaneous and uterine leiomyomata type 1, with or without renal cell carcinoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, multiple cutaneous -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis and renal cell cancer, hereditary +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150800 -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 -MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, inherited patterned MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lentiginosis, inherited patterned +MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis profusa +MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, inherited patterned MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, generalized +MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, diffuse -MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis profusa MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151050 -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lmhd MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz-majewski syndrome -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062901 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175704 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moynahan syndrome +MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062901 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 -MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151200 MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835450 -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plsdt -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, luton variant +MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, torrance variant +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, luton variant MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151210 MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835437 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023465 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318544 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute monocytic MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute monocytic MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 -MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 -MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus -MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus -MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsa +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318544 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen sclerosus et atrophicus -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc3 -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus +MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia striatus MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia totalis and/or partialis +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia punctata +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcelain nails MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcelain nails -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia punctata -MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomotor-levator synkinesis +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculomotor-levator synkinesis -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma family syndrome of type 51 and fraumeni semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomotor-levator synkinesis +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni-like syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfs -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma family syndrome of type 51 and fraumeni semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip, median nodule of upper +MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lip, median nodule of upper -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fpl2 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial, of limbs and lower trunk MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch NCIT:C165527 Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, reverse partial -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msl -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple symmetric +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial, of limbs and lower trunk +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151800 +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple symmetric +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023804 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoma -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple MONDO:0007909 familial multiple lipomatosis skos:closeMatch NCIT:C3192 Lipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoma +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple MONDO:0007911 lipoprotein, variant of beta skos:closeMatch OMIM:152400 lipoprotein, variant of beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-lipoprotein, double MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lymphocyte low molecular weight dna MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lmw-dna -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152800 MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, intestinal -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267372 MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, intestinal -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 +MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267372 +MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152800 MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835272 -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema and cerebral arteriovenous anomaly +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and cerebral arteriovenous anomaly -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835265 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema and cerebral arteriovenous anomaly MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlcrd syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and retinal folds with microcephaly and microphthalmos +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdmmr syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835265 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153100 -MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema praecox -MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027138 +MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema praecox MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153200 -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 +MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221348 MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048244 -MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and yellow nails +MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 +MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns +MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and yellow nails MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-distichiasis syndrome with renal disorder and diabetes mellitus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema with distichiasis -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153400 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153400 +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 MONDO:0007923 macrocephaly, benign familial skos:closeMatch OMIM:153470 macrocephaly, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-hughes syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, pseudopapilledema, and multiple hemangiomata +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, multiple lipomas, and hemangiomata MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, pseudopapilledema, and multiple hemangiomata -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym riley-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, multiple lipomas, and hemangiomata MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-zonana syndrome -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megakaryocytes, unilobular nucleated +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocytic anemia, refractory, due to type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megakaryocytes, unilobular nucleated MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153550 -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 -MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 MONDO:0007927 congenital macroglossia skos:closeMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153670 -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch OMIM:300376 muscular dystrophy, becker iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmd +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, polymorphic vitelline MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym best vitelliform macular dystrophy, multifocal -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmd2 -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmd MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, senile MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, atypical vitelliform -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 +MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153870 -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, dominant cystoid -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular edema, cystoid -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddc -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 +MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, dominant cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, dominant cystoid +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular edema, cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystoid macular dystrophy +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddc +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium wasting, renal +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium loss, isolated renal +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154020 -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium wasting, renal MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium loss, isolated renal -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy4 -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 9p24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with type 9p24.3 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 -MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs2 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with type 9p24.3 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs2 MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154275 -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs3 -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs3 MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154276 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 +MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs3 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nager syndrome +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154400 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afd1 +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nager syndrome MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, with limb anomalies -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcs1 -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:closeMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphodiester glycoside deficiency -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 -MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaw-winking +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 +MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maxillopalpebral synkinesis MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marcus gunn phenomenon MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marcus gunn phenomenon -MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maxillopalpebral synkinesis +MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaw-winking MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026829 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026829 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265235 -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154780 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 -MONDO:0007949 Marshall syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrshs -MONDO:0007950 mastocytosis skos:closeMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 +MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026891 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa +MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026891 +MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024899 +MONDO:0007950 mastocytosis skos:closeMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007951 masticatory muscles, hypertrophy of skos:closeMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masseter muscle hypertrophy +MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155050 MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maxillonasal dysplasia -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835087 MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155145 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmtc -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc1 MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc1 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027107 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet -MONDO:0007959 medulloblastoma skos:closeMatch OMIM:155255 medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdb +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 MONDO:0007961 megalencephaly, autosomal dominant skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155350 -MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly -MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodactyly MONDO:0007962 megalodactyly skos:closeMatch NCIT:C48900 Macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodactyly +MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic nevus syndrome, hereditary -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical mole-malignant melanoma syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, cutaneous malignant MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, familial +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical mole-malignant melanoma syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, malignant +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, cutaneous malignant MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm1 +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm2 MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155700 +MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155755 MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch NCIT:C176905 Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 MONDO:0007968 melanoma tumor antigen Gp90 skos:closeMatch OMIM:155770 melanoma tumor antigen gp90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym class type 1 unique tumor antigen of melanoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mros -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch NCIT:C69168 Mrs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mrs +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melkersson syndrome -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155900 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 +MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050284 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mel -MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melorheostosis, isolated MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155980 +MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous cranial ossification, delayed MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous cranial ossification, delayed -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous cranial ossification, delayed MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meniere disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meniere disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia with ankle, carpal, and tarsal synostosis -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410530 -MONDO:0007979 metachondromatosis skos:closeMatch OMIM:156250 metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachondromatosis -MONDO:0007979 metachondromatosis skos:closeMatch OMIM:156250 metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metcds -MONDO:0007979 metachondromatosis skos:closeMatch OMIM:156250 metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachondromatosis MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156250 -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachondromatosis MONDO:0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156310 +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156400 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265295 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156500 MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch OMIM:156500 metaphyseal chondrodysplasia, schmid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcds -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdmhb -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156500 +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 -MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia -MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metatropic dysplasia +MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156550 +MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia +MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metatropic dysplasia MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, autosomal dominant +MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 +MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156550 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, autosomal dominant MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220693 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, autosomal dominant +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcoria, congenital +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcor MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156600 MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcor -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcoria, congenital -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, multiple benign ring-shaped, of limbs MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michelin tire baby syndrome -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, multiple benign ring-shaped, of limbs MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-deafness syndrome +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156620 MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796062 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, glaucoma, and absent frontal sinuses -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, glaucoma, and absent frontal sinuses MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microgastria-limb reduction defects association -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microgastria-limb reduction defects association -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlrd +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microgastria-limb reduction defects association +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microgastria-limb reduction defects association MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 +MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with microphthalmia MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156850 -MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and corectopia -MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcr MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with myopia and corectopia -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia +MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and corectopia MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microspherophakia-metaphyseal dysplasia +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157151 MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834880 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgau +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine -MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch NCIT:C89715 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine +MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgau MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr1 -MONDO:0008001 milia, multiple eruptive skos:closeMatch OMIM:157400 milia, multiple eruptive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mem -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 +MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch NCIT:C89715 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements, congenital -MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrmv1 MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bimanual synergia -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa1 +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement -MONDO:0008004 familial mitral valve prolapse skos:closeMatch OMIM:605088 MVP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mvp -MONDO:0008004 familial mitral valve prolapse skos:closeMatch OMIM:605088 MVP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvp MONDO:0008004 familial mitral valve prolapse skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157800 -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cscf MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones -MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853240 +MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030069 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853240 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbs MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius sequence -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155930 -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label permanent molars, secondary retention of +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym permanent molars, secondary retention of +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dental ankylosis +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155930 +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157980 MONDO:0008008 MOMO syndrome skos:closeMatch OMIM:157980 momo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrosomia, obesity, macrocephaly, and ocular abnormalities MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834759 -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157980 -MONDO:0008009 monilethrix skos:closeMatch OMIM:158000 monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnlix MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 +MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 +MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:closeMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk1 MONDO:0008011 antigen defined by monoclonal antibody T87 skos:closeMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk2 -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158170 -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaicism, chromosomal MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixoploidy, familial MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motion sickness MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da7 -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mouth, inability to open completely, and short finger-flexor tendons -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265226 +MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 +MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mouth, inability to open completely, and short finger-flexor tendons MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158310 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063042 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome +MONDO:0008018 Muir-Torre syndrome skos:closeMatch NCIT:C84905 Muir-Torre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrtes -MONDO:0008018 Muir-Torre syndrome skos:closeMatch NCIT:C84905 Muir-Torre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675014 -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 +MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism +MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675014 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteus-like syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cws1 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cs -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granule cell hypertrophy and megalencephaly -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:118950 CS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cs MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:118950 CS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cs +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158500 MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158500 +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harper-young myopathy MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7a MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, with vocal cord paralysis +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmnvp MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158580 -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harper-young myopathy -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn7a -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn2a -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, adult, autosomal dominant, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, adult, autosomal dominant, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158590 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome, autosomal dominant MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome, autosomal dominant MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 -MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bthlm1 -MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 +MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bethlem myopathy MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement -MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement MONDO:0008029 Bethlem myopathy skos:closeMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158900 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd1 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy, infantile -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy, infantile MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd2, digenic -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd2 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd2, digenic MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158901 MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159050 -MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, limb-girdle MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159400 +MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, limb-girdle +MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-pancytopenia syndrome +MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159550 -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch OMIM:159550 ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atxpc MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327919 -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-pancytopenia syndrome -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 -MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelopathy, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelopathy, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraparesis, htlv-1-associated +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 +MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelopathy, htlv-1-associated +MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelopathy, htlv-1-associated MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ham -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159595 -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834582 -MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch OMIM:602496 MPST semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mst -MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159595 MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:602496 MPST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst -MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative syndrome, transient +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus, cerebellar ataxia, and deafness MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, cerebellar ataxia, and deafness -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834579 MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159800 -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt11 -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159900 -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential +MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834579 MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus-dystonia syndrome -MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential +MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159900 +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with progressive myoclonic epilepsy -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smapme MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834569 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159950 -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160010 +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with progressive myoclonic epilepsy MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834567 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia with periodic ataxia +MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160010 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal ataxia with neuromyotonia, hereditary MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous muscle fiber activity, hereditary +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 with or without hypomagnesemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia with periodic ataxia MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with myokymia -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea1 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal ataxia with neuromyotonia, hereditary -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous muscle fiber activity, hereditary MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1719788 MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnm1 +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal dominant -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, late distal hereditary -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, early-onset, autosomal dominant +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, late distal hereditary MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tam1 -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular aggregate myopathy -MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubular aggregate myopathy MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 +MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubular aggregate myopathy MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NCIT:C27578 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931785 MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, familial idiopathic inflammatory -MONDO:0008054 juvenile dermatomyositis skos:closeMatch NCIT:C27578 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia levior MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160800 -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160900 MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinert myotonic dystrophy -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym name syndrome -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney myxoma-endocrine complex -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnc1 +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamb syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney myxoma-endocrine complex MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, spotty pigmentation, and endocrine overactivity +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym name syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamb syndrome -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy with cylindrical spirals +MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic myopathy with cylindrical spirals -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy with cylindrical spirals MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161000 -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfjs -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-shaped nails -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychauxis, hyponychia, and onycholysis +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy totalis, isolated MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail growth MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406443 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc1 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychauxis, hyponychia, and onycholysis +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-shaped nails +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027341 -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 -MONDO:0008061 nail-patella syndrome skos:closeMatch OMIM:161200 nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nps -MONDO:0008061 nail-patella syndrome skos:closeMatch OMIM:609513 neuropeptide s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nps +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 +MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataplexy +MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement MONDO:0008062 narcolepsy 1 skos:closeMatch NCIT:C84618 Cataplexy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataplexy MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161400 -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nrclp1 -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca2 +MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca2 +MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:closeMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leigh syndrome, adult -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 nemaline myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 nemaline myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 3, with intranuclear rods semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 nemaline myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with cores -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with cores +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 3, with intranuclear rods semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, familial -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal failure, progressive, with hypertension MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephritis, familial, without deafness or ocular defect -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, adult-onset -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rfh1 MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161900 MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, progressive, with hypertension -MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igan +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal failure, progressive, with hypertension +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, adult-onset MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igan MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label umod-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd2 -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 -MONDO:0008075 schwannomatosis skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335929 -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy +MONDO:0008075 schwannomatosis skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162100 -MONDO:0008076 amyotrophic neuralgia skos:closeMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hna +MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch OMIM:162210 neurofibromatosis, familial spinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsnf MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 -MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npdc syndrome MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duodenal carcinoid syndrome +MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npdc syndrome MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromas, palmar cutaneous MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf3a MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162260 -MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf4 -MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, variant form(s) of MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, variant form(s) of MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, atypical -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025269 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056420 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucosal neuroma syndrome -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromata, mucosal, with endocrine tumors MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromata, mucosal, with endocrine tumors +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025269 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162400 -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary, with liability to pressure palsies -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with liability to pressure palsies -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, familial recurrent +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069382 MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162500 +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, familial recurrent +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with liability to pressure palsies MONDO:0008089 neutropenia, chronic familial skos:closeMatch OMIM:162700 neutropenia, chronic familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukopenia, benign familial -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053176 MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 -MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch NCIT:C3820 Cyclic Neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia -MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543669 MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 -MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilia, hereditary MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilia, hereditary +MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilia, hereditary MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, woolly hair -MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, keratinocytic, nonepidermolytic MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus sebaceous +MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, keratinocytic, nonepidermolytic MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162900 +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067193 -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmc MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163000 -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym port-wine stain MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235752 -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym port-wine stain MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformations, congenital MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevi flammei, familial multiple MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations, congenital -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmc MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus anemicus MONDO:0008095 nevus anemicus skos:closeMatch NCIT:C3943 Nevus Anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythema nuchae MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unna nevus +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimmelpenning-feuerstein-mims syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear sebaceous nevus syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163200 +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimmelpenning-feuerstein-mims syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermal nevus syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimmelpenning-feuerstein-mims syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432231 +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia, nievergelt type MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163400 +MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432231 MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163500 MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008100 nipples inverted skos:closeMatch OMIM:163600 nipples inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mammillae invertitae -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nipples, supernumerary -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polythelia, familial MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nipples, supernumerary +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory nipples -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nipples, supernumerary +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polythelia, familial MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163700 -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss2 +MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation with bradyarrhythmia -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial, autosomal dominant MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 with or without cardiac noncompaction and/or ascending aorta dilation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial, autosomal dominant -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 -MONDO:0008104 Noonan syndrome 1 skos:closeMatch NCIT:C34854 Noonan Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male turner syndrome +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation with bradyarrhythmia +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner phenotype with normal karyotype -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym female pseudo-turner syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male turner syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch NCIT:C34854 Noonan Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome MONDO:0008105 nose, anomalous shape of skos:closeMatch OMIM:164000 nose, anomalous shape of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potato nose MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164180 +MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 +MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocular cicatricial pemphigoid MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164185 MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid -MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocular cicatricial pemphigoid -MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch OMIM:164185 ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocp MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164200 MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063691 -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch OMIM:164200 oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharofacioskeletal syndrome MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164220 -MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brss MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular hypotelorism, submucosal cleft palate, and hypospadias MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, hypotelorism, and hypospadias -MONDO:0008114 obsessive-compulsive disorder skos:closeMatch OMIM:164230 obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocd MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodigitoesophagoduodenal syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmt syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and digital abnormalities with normal intelligence -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodigitoesophagoduodenal syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum MONDO:0008115 Feingold syndrome type 1 skos:closeMatch NCIT:C74987 Feingold Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164300 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164300 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoma-dysphagia syndrome MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoma-dysphagia syndrome -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoma-dysphagia syndrome MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834013 -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164400 +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NCIT:C129982 Spinocerebellar Ataxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omod2 -MONDO:0008124 omphalocele, autosomal skos:closeMatch OMIM:164750 omphalocele, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p31 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164750 -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008124 omphalocele, autosomal skos:closeMatch OMIM:164750 omphalocele, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p31 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, hereditary distal MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, partial, with scleronychia MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc5 -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, hereditary distal -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164900 +MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833872 +MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164900 MONDO:0008128 ophthalmoplegia, familial static skos:closeMatch OMIM:165000 ophthalmoplegia, familial static semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, nonprogressive, congenital hereditary -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive, with scrotal tongue and mental deficiency MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, progressive, with scrotal tongue and mental deficiency +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165199 MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165200 MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy and cataract, autosomal dominant +MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:606580 OPA3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opa3 -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:606580 OPA3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3 +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, juvenile MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:605290 OPA1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa1 -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa1 -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, juvenile MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165500 -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:605290 OPA1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opa1 -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165550 -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia, bilateral +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve aplasia, bilateral +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia, bilateral +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated optic nerve hypoplasia/aplasia -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with fibular aplasia -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165550 MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833796 MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165590 +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with fibular aplasia +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orbital margin, hypoplasia of MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orbital margin, hypoplasia of MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165600 MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833795 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833792 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and macrocytosis MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy of fingers, familial +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833792 +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann epiphyseal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy of fingers, familial MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165700 MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthrosis MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oa -MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os1 MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip, female-specific, susceptibility to -MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthrosis -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 +MONDO:0008145 Ollier disease skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014642 -MONDO:0008145 Ollier disease skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0008145 Ollier disease skos:closeMatch NCIT:C3008 Enchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enchondromatosis -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with blue sclerae MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta tarda -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with blue sclerae +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, perinatal lethal form -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 +MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita +MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268363 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with normal sclerae -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with normal sclerae +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ogd -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoglophonic dysplasia +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglosphonic dysplasia MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166250 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal dysplasia +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal sclerosis MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with unusual skeletal lesions +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal sclerosis -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal dysplasia -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcto -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary, of carpal bones with or without nephropathy MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric osteolysis, autosomal dominant +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166300 MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674705 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166350 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary, of carpal bones with or without nephropathy +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoma cutis MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048902 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch NCIT:C132062 Osteoma Cutis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoma cutis +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166350 MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic ossification, familial -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoma cutis +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch NCIT:C132062 Osteoma Cutis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoma cutis MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous heteroplasia, progressive -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166450 MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432264 -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal dominant -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166450 +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179239 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis fragilis generalisata -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal dominant +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata with osteopoikilosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis with melorheostosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis, isolated -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatoosteopoikilosis +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata with osteopoikilosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatoosteopoikilosis +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopoikilosis and dacryocystitis MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis and dacryocystitis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopoikilosis and dacryocystitis -MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone mineral density quantitative trait locus MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, postmenopausal +MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone mineral density quantitative trait locus MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:closeMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical thickening of long bones with bowing and ichthyosis MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome -MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootodental syndrome +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otodental syndrome with coloboma +MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootodental syndrome MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym come/rom MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otitis media, chronic/recurrent -MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oms -MONDO:0008162 otitis media, susceptibility to skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oms MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833691 MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931416 -MONDO:0008164 otosclerosis 1 skos:closeMatch OMIM:166800 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ots -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he, stomatocytic MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis, stomatocytic hereditary MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovalocytosis, southeast asian MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovalocytosis, southeast asian +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovalocytosis, southeast asian +MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teratoma, ovarian MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, ovarian MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cyst, ovarian -MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teratoma, ovarian MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064257 MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149951 MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian fibromata MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian fibromata MONDO:0008170 ovarian cancer skos:closeMatch OMIM:167000 ovarian cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, epithelial MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate -MONDO:0008171 nephrolithiasis skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney stones MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate -MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caon MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal dominant +MONDO:0008171 nephrolithiasis skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney stones MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal dominant +MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167100 -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc1 -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn-lewandowsky syndrome, formerly MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jadassohn-lewandowsky type, formerly +MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn-lewandowsky syndrome, formerly MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167200 -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:167210 pachyonychia congenita 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc2 MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:167210 pachyonychia congenita 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jackson-lawler type, formerly -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:173910 PKD2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc2 MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167210 -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 +MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167220 MONDO:0008175 pacman dysplasia skos:closeMatch OMIM:167220 pacman dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal stippling with osteoclastic hyperplasia -MONDO:0008176 Paget disease of bone 3 skos:closeMatch OMIM:167250 paget disease of bone 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdb3 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167300 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 -MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibmpfd1 -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, with paget disorder of bone semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167320 +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, with paget disorder of bone semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepd +MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167400 MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833661 MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pain, submandibular, ocular, and rectal, with flushing MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pexpd MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal pain, familial -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:613230 PEPD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepd -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:613230 PEPD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pepd -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167400 -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal incompetence -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal insufficiency MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palatopharyngeal incompetence MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palatopharyngeal incompetence -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal incompetence +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal insufficiency +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopalpebral lipoma-coloboma syndrome MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palpebral coloboma-lipoma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nplcs -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071757 -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167750 +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 -MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreas, annular MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 +MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071757 MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167755 -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pctt +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, calcific MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, susceptibility to -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, protection against +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, calcific MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167800 -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc -MONDO:0008187 panic disorder 1 skos:closeMatch NCIT:C34890 Panic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder MONDO:0008187 panic disorder 1 skos:closeMatch OMIM:167870 panic disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp +MONDO:0008187 panic disorder 1 skos:closeMatch NCIT:C34890 Panic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, reticulated and confluent, of gougerot and carteaud +MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, familial cutaneous -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl1 +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus jugulare tumors +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial nonchromaffin, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomata MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, carotid body -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus jugulare tumors +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chemodectomas +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomata MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168000 MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial nonchromaffin, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chemodectomas MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168100 MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, of hunt semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008194 Paramolar tubercle of bolk skos:closeMatch OMIM:168200 paramolar tubercle of bolk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bolk cusp +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paralysis periodica paramyotonica +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168300 MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita without cold paralysis -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NCIT:C122794 Paramyotonia Congenita without Cold Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita without cold paralysis -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmc -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168300 -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 +MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum occultum MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parietal foramina, symmetric MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum, hereditary -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfm1 -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:605780 PRDM4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfm1 MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168500 -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfm MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with parietal foramina +MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868597 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal foramina with clavicular hypoplasia -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfmccd -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868597 +MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with parietal foramina MONDO:0008199 late-onset Parkinson disease skos:exactMatch NCIT:C53542 Park semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label park -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical parkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park1 -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168605 MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868594 -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168860 +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella aplasia-hypoplasia MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168860 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella aplasia-hypoplasia -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal tonic upgaze, benign childhood, with ataxia MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868576 +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal tonic upgaze, benign childhood, with ataxia +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal tonic upgaze, benign childhood, with ataxia MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella, chondromalacia of MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella, chondromalacia of -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char syndrome -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary +MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char +MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym butterfly dystrophy of retinal pigment epithelium +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868546 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169170 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome MONDO:0008212 Pechet factor deficiency skos:closeMatch OMIM:169200 pechet factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dynia factor deficiency +MONDO:0008213 pectus excavatum skos:closeMatch OMIM:169300 pectus excavatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym funnel chest MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pectus excavatum -MONDO:0008213 pectus excavatum skos:closeMatch OMIM:169300 pectus excavatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym funnel chest -MONDO:0008214 Pelger-Huet anomaly skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha -MONDO:0008214 Pelger-Huet anomaly skos:closeMatch OMIM:169400 pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, demyelinating, adult-onset, autosomal dominant +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169500 -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169550 +MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 +MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign chronic pemphigus MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169600 -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 MONDO:0008218 Hailey-Hailey disease skos:closeMatch NCIT:C82865 Familial Benign Pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign pemphigus -MONDO:0008218 Hailey-Hailey disease skos:closeMatch OMIM:169600 benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcpm -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030809 MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169610 MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pemphigus vulgaris, familial +MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030809 +MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigus vulgaris, familial -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268532 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 +MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170390 +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238358 -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, prepubertal MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, juvenile -MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, prepubertal MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170700 -MONDO:0008228 pernicious anemia skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency -MONDO:0008230 peroxidase, salivary skos:closeMatch OMIM:170990 peroxidase, salivary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sapx -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 +MONDO:0008228 pernicious anemia skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency MONDO:0008233 pheochromocytoma skos:closeMatch OMIM:171300 pheochromocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, susceptibility to -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, familial medullary +MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, familial medullary +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculoradial dysplasia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171480 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868390 +MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphatase, acid, of tissues -MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphatase, acid, of tissues MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase -MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp3--alpha polypeptide -MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym milk pgm +MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm4 -MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgls deficiency +MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym milk pgm MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 6pgl deficiency -MONDO:0008241 phosphoglycoprotein 1 skos:closeMatch OMIM:172290 phosphoglycoprotein 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgp1 -MONDO:0008241 phosphoglycoprotein 1 skos:closeMatch OMIM:107269 CD44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgp1 +MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgls deficiency MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:closeMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herrmann syndrome -MONDO:0008243 Pick disease skos:closeMatch NCIT:C85008 Pick's Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label picks disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 -MONDO:0008243 Pick disease skos:closeMatch OMIM:172700 pick disease of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia with lobar atrophy and neuronal cytoplasmic inclusions MONDO:0008243 Pick disease skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 -MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 +MONDO:0008243 Pick disease skos:closeMatch OMIM:172700 pick disease of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia with lobar atrophy and neuronal cytoplasmic inclusions MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 +MONDO:0008243 Pick disease skos:closeMatch NCIT:C85008 Pick's Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label picks disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 -MONDO:0008244 piebaldism skos:closeMatch OMIM:172800 piebald trait semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbt -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym piebald trait with neurologic defects -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label piebald trait with neurologic defects -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 +MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868311 -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented paravenous chorioretinal atrophy +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label piebald trait with neurologic defects +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym piebald trait with neurologic defects +MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868310 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented paravenous chorioretinal atrophy -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcra -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly +MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented paravenous chorioretinal atrophy MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence and oligodactyly -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome and oligodactyly +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172880 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal dominant -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd2 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 -MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch OMIM:176640 PRNP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prp -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173200 +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal dominant MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035116 -MONDO:0008256 platelet membrane fluidity skos:closeMatch OMIM:173560 platelet membrane fluidity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmf -MONDO:0008256 platelet membrane fluidity skos:closeMatch OMIM:180989 PRB1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmf -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pneumothorax, primary spontaneous +MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173200 MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumothorax, primary spontaneous MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pneumothorax, primary spontaneous MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173600 -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kindler syndrome -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous acrokeratotic poikiloderma of kindler and weary -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary acrokeratotic -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kndlrs -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma +MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary acrokeratotic MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome +MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kindler syndrome +MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous acrokeratotic poikiloderma of kindler and weary MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173700 MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary sclerosing MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectoralis muscle, absence of MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032357 +MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173800 +MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036007 -MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173800 -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, adult semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly +MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectoralis muscle, absence of MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008263 polycystic kidney disease 1 skos:exactMatch OMIM:601313 PKD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pkd1 -MONDO:0008263 polycystic kidney disease 1 skos:exactMatch OMIM:601313 PKD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pkd1 MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173900 -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, adult semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adpcld -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcld MONDO:0008265 polycystic liver disease 1 skos:closeMatch NCIT:C82833 Polycystic Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa1 -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 +MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial +MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174300 -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with progressive myopia MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with progressive myopia MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174310 -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:180989 PRB1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pms -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fromont anomaly -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb polydactyly -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fromont anomaly MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 1 semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb with polysyndactyly +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polydactyly syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly of triphalangeal thumb -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome +MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 +MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger polydactyly -MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 +MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 4 semapv:RegularExpressionReplacement +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 -MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 4 semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868111 +MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, uncomplicated -MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile spring eruption of ears -MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymorphic light eruption, hereditary -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868111 MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406217 +MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 +MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymorphic light eruption, hereditary +MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile spring eruption of ears MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036120 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym expansile osteolysis, familial -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic osteolytic dysplasia, hereditary expansile -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174810 -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feo -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach +MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic osteolytic dysplasia, hereditary expansile +MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym expansile osteolysis, familial +MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis coli -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, familial, of entire gastrointestinal tract -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, juvenile intestinal MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, juvenile intestinal +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, familial, of entire gastrointestinal tract MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch NCIT:C7754 Juvenile Polyposis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis with hereditary hemorrhagic telangiectasia -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps/hht -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jpht +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, generalized juvenile, with pulmonary arteriovenous malformation +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps/hht MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jp/hht syndrome MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis with hereditary hemorrhagic telangiectasia MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034764 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps-and-spots syndrome MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, hamartomatous intestinal +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 MONDO:0008281 polyposis, intestinal, scattered and discrete skos:closeMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps, scattered, discrete intestinal MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175500 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062907 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175500 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, skin pigmentation, alopecia, and fingernail changes +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyposis, skin pigmentation, alopecia, and fingernail changes +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062907 MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:closeMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundic gland polyposis MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175510 MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, crossed MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly, crossed MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175690 +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with peculiar skull shape +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265306 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053878 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch NCIT:C35255 Greig Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label greig syndrome MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with peculiar skull shape MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 -MONDO:0008288 popliteal cyst skos:closeMatch OMIM:175750 popliteal cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baker cyst +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch NCIT:C35255 Greig Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label greig syndrome MONDO:0008288 popliteal cyst skos:closeMatch NCIT:C34935 Baker Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baker cyst +MONDO:0008288 popliteal cyst skos:closeMatch OMIM:175750 popliteal cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baker cyst MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis of mibelli +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175800 -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175850 MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis palmaris et plantaris disseminata -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porok2 +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175850 +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175860 +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch OMIM:175860 palmoplantar keratoderma, punctate iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porok3 MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute intermittent -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aip -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ups deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent, nonerythroid variant -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aip -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aip -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aip +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ups deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent, nonerythroid variant +MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867968 MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pct -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, hepatoerythropoietic -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pct MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen decarboxylase deficiency +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen decarboxylase deficiency MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urod deficiency MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch NCIT:C27725 Porphyria Cutanea Tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, hepatoerythropoietic +MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant +MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppox deficiency +MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria variegata MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 -MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria variegata MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 -MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vp -MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant -MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppox deficiency +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postaxial oligodactyly, tetramelic MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial oligodactyly, tetramelic -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 MONDO:0008299 posterior column ataxia skos:closeMatch OMIM:176250 posterior column ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond ataxia MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032897 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi syndrome chromosome region +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome associated with chromosome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pws -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preaxial deficiency, postaxial polydactyly, and hypospadias -MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial deficiency, postaxial polydactyly, and hypospadias -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176305 -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867801 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 -MONDO:0008302 centra precocious puberty 1 skos:closeMatch OMIM:176400 precocious puberty, central, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cppb1 +MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 +MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176305 +MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial deficiency, postaxial polydactyly, and hypospadias +MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preaxial deficiency, postaxial polydactyly, and hypospadias MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sexual precocity, familial, gonadotropin-independent +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1504412 MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell adenoma, somatic, with male-limited precocious puberty MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label precocious puberty, male-limited MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty, male-limited -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sexual precocity, familial, gonadotropin-independent MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063654 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1504412 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 MONDO:0008304 premature chromatid separation trait skos:closeMatch OMIM:176430 premature chromatid separation trait semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total premature chromatid separation trait -MONDO:0008304 premature chromatid separation trait skos:closeMatch OMIM:176430 premature chromatid separation trait semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcs +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scra1 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis syndrome +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino syndrome MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation -MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scra1 +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis syndrome +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 +MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial british -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036794 -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176670 -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033300 MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033300 +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176670 +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036794 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176690 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 +MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid short stature with pigmented nevi MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progeroid short stature with pigmented nevi +MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prognathism, mandibular -MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prognathism, mandibular MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'hapsburg jaw' -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176700 MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'habsburg jaw' -MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal prolapse +MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prognathism, mandibular +MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176700 +MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prolapse of vagina and rectum MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal prolapse +MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal prolapse MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch NCIT:C34973 Rectal Prolapse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rectal prolapse -MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prolapse of vagina and rectum -MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prostate cancer MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostate cancer -MONDO:0008315 prostate cancer skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176807 +MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prostate cancer +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, acquired MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal dominant -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph3 MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal dominant -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, acquired MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085261 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 @@ -7427,80 +6689,72 @@ MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome sem MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176920 MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elattoproteus syndrome MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177000 MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epp -MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protrusio acetabuli +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177000 MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protrusio acetabuli -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 +MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protrusio acetabuli MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177170 MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 +MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 MONDO:0008322 pseudoachondroplasia skos:closeMatch OMIM:177170 pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, pseudoachondroplastic -MONDO:0008322 pseudoachondroplasia skos:closeMatch OMIM:177170 pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psach -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pseudohyperaldosteronism type 1 -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052313 -MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome -MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liddle syndrome +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pseudohyperaldosteronism type 1 +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoaldosteronism +MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liddle syndrome +MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis at elbow and knee MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary congenital rigidity of elbows and knees -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation syndrome -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exfoliation syndrome MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliation syndrome +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation syndrome MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation glaucoma -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xfs -MONDO:0008328 glaucoma 1, open angle, P skos:closeMatch OMIM:177700 glaucoma 1, open angle, p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc1p -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exfoliation syndrome +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal pha1 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand disorder, platelet-type semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vwdp -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, heterozygous MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177850 -MONDO:0008334 psoriasis 1, susceptibility to skos:closeMatch OMIM:177900 psoriasis 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psors1 -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177980 +MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, heterozygous MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867443 +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177980 MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygia, mental retardation, and distinctive craniofacial features MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haspeslagh syndrome MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178000 MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium of conjunctiva and cornea -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867440 -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium, antecubital +MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178200 MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867439 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178300 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015996 -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptos1 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, strabismus, and ectopic pupils MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, strabismus, and ectopic pupils +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, strabismus, and ectopic pupils MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867437 MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178330 -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344976 MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178370 +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344976 MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:closeMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high altitude pulmonary hypertension MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178550 +MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement -MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement -MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph1 MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178610 MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary nodular lymphoid hyperplasia, familial @@ -7508,274 +6762,241 @@ MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:closeMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciuffo syndrome MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178995 -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puppp -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch OMIM:178995 pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puppp MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066100 -MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile hypertrophic +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile +MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile hypertrophic MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179250 -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial ray hypoplasia with choanal atresia MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray hypoplasia with choanal atresia +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 +MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial-renal syndrome +MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial-renal syndrome MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931146 -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 -MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial-renal syndrome -MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial-renal syndrome +MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 +MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931146 MONDO:0008364 Raynaud disease skos:closeMatch OMIM:179600 raynaud disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold fingers, hereditary -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179613 MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795822 +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008366 red cell permeability defect skos:closeMatch OMIM:179650 red cell permeability defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis with transverse slitlike changes +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high red cell phosphatidylcholine hemolytic anemia MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylcholine red cell membrane disorder MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leaky red cell syndrome -MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high red cell phosphatidylcholine hemolytic anemia -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, distal type, autosomal dominant MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement +MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular acidosis, proximal +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179830 +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement -MONDO:0008369 proximal renal tubular acidosis skos:exactMatch NCIT:C123218 Proximal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179830 +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular acidosis, proximal +MONDO:0008369 proximal renal tubular acidosis skos:exactMatch NCIT:C123218 Proximal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis +MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 +MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticular pigment anomaly of flexures -MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddd1 -MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 -MONDO:0008372 retinal aplasia skos:closeMatch OMIM:179900 retinal aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita +MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179900 -MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rator -MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arteries, tortuosity of +MONDO:0008372 retinal aplasia skos:closeMatch OMIM:179900 retinal aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180000 +MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arteries, tortuosity of MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arteries, tortuosity of +MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy, autosomal dominant MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone degeneration -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcd1 MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy, autosomal dominant MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:612054 CNOT9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcd1 -MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch OMIM:603937 RP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rp1 -MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch OMIM:603937 RP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp1 -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180100 -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa -MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch OMIM:607331 RP9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rp9 -MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch OMIM:607331 RP9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp9 +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180100 MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180104 MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180105 -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinoblastoma -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinoblastoma -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rb -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma -MONDO:0008380 retinoblastoma skos:closeMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rb1 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038916 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 -MONDO:0008380 retinoblastoma skos:closeMatch OMIM:614041 RB1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rb1 -MONDO:0008380 retinoblastoma skos:closeMatch OMIM:614041 RB1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rb1 MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinoblastoma MONDO:0008380 retinoblastoma skos:closeMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rb +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinoblastoma MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, dominant MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, dominant MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180210 +MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement +MONDO:0008383 rheumatoid arthritis skos:closeMatch OMIM:180300 rheumatoid arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, susceptibility to MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement -MONDO:0008383 rheumatoid arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 -MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement -MONDO:0008383 rheumatoid arthritis skos:closeMatch OMIM:180300 rheumatoid arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, susceptibility to +MONDO:0008385 rhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniorhiny -MONDO:0008385 rhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:601542 PITX2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rgs MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg -MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring dermoid of cornea -MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdc -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 +MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea +MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring dermoid of cornea MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea -MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ringed hair -MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 +MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 +MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair +MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ringed hair MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180600 -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867147 -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180730 +MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 +MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch OMIM:180750 robinow-sorauf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-bifid hallux syndrome MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180750 -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-lévy syndrome +MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-levy hereditary areflexic dystasia MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roussy-levy hereditary areflexic dystasia MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumbs and great toes, characteristic facies, and mental retardation MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein syndrome -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 +MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175693 MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175693 -MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism +MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180870 +MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265248 +MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180870 +MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796140 MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid aplasia or hypoplasia -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180920 MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary glands, absence of +MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180920 +MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ss1 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 -MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym submandibular duct calculi MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid duct calculi -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic salivary gland adenoma +MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym submandibular duct calculi +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgpa MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland adenoma, pleomorphic -MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland +MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic salivary gland adenoma +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:606793 NPEPPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgpa +MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland adenoma, pleomorphic +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label say syndrome MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867023 -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, microcephaly, large ears, and short stature -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label say syndrome +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym say syndrome -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp defects and postaxial polydactyly +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defects and postaxial polydactyly MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defects and postaxial polydactyly -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp defects and postaxial polydactyly -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sens -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp-ear-nipple syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181270 -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 -MONDO:0008406 autosomal recessive Emery-Dreifuss muscular dystrophy skos:exactMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edmd3 +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp-ear-nipple syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, neurogenic type, of kaeser -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scpnk -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181400 +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181405 -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:181430 scapuloperoneal myopathy, myh7-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal muscular dystrophy -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:181430 scapuloperoneal myopathy, myh7-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, myh7-related -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:181430 scapuloperoneal myopathy, myh7-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scapuloperoneal myopathy, myh7-related -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:181430 scapuloperoneal myopathy, myh7-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spmm +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, myh7-related +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal muscular dystrophy MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181430 MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal osteochondrosis MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scheuermann juvenile kyphosis -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866994 +MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to -MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to -MONDO:0008412 intestinal schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181460 +MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 1 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huriez syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrz -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerotylosis -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scleroatrophic and keratotic dermatosis of limbs -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerotylosis MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scleroatrophic and keratotic dermatosis of limbs +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huriez syndrome MONDO:0008417 sclerocornea, autosomal dominant skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181700 MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 +MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic sclerosis, susceptibility to -MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crest syndrome MONDO:0008418 scleroderma, familial progressive skos:closeMatch NCIT:C70646 CREST Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crest syndrome -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 -MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent isolated scoliosis +MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crest syndrome MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent idiopathic scoliosis -MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, seborrheic +MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent isolated scoliosis MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, seborrheic +MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, seborrheic MONDO:0008420 seborrheic keratosis skos:narrowMatch ICD10CM:L82.1 Other seborrheic keratosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic keratosis semapv:RegularExpressionReplacement -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label simosa craniofacial syndrome +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182170 MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sidba4 -MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182190 MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss-myopia syndrome MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome and myopia -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen omphalocele syndrome -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharynx and larynx hypoplasia with omphalocele -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen omphalocele syndrome -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis +MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182190 MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866958 MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182210 -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgs -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen-goldberg craniosynostosis syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with arachnodactyly and abdominal hernias +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen omphalocele syndrome +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharynx and larynx hypoplasia with omphalocele +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen omphalocele syndrome MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321551 MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with arachnodactyly and abdominal hernias +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen-goldberg craniosynostosis syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgs MONDO:0008427 sister chromatid exchange, frequency of skos:closeMatch OMIM:182220 sister chromatid exchange, frequency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sce, frequency of MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067159 -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label septo-optic dysplasia spectrum MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432254 -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgmrt1 MONDO:0008431 slipped femoral capital epiphyses skos:closeMatch OMIM:182260 slipped femoral capital epiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphysiolysis capitis femoris MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small cell cancer of the lung MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell cancer of the lung MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182280 -MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclc1 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome @@ -7783,44 +7004,40 @@ MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795864 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:300105 SMS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:300105 SMS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sms -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NCIT:C75469 Smith-Magenis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome chromosome region -MONDO:0008436 Sneddon syndrome skos:closeMatch OMIM:182410 sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis and cerebrovascular accidents +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NCIT:C75469 Smith-Magenis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 +MONDO:0008436 Sneddon syndrome skos:closeMatch OMIM:182410 sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis and cerebrovascular accidents MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053841 -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strumpell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strumpell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg3 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182600 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866855 +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182601 +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866855 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch NCIT:C129981 Spastic Paraplegia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 -MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, epilepsy, and mental retardation -MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, epilepsy, and mental retardation +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spemr -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy +MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, epilepsy, and mental retardation +MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, epilepsy, and mental retardation MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931667 +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with neuropathy and poikiloderma MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with neuropathy and poikiloderma MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 @@ -7829,29 +7046,24 @@ MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatc MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty with spastic paraplegia MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with precocious puberty MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with precocious puberty MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866850 -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with precocious puberty MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931119 -MONDO:0008446 sperm protamine P4 skos:closeMatch OMIM:182882 sperm protamine p4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prm4 -MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch OMIM:601306 HCLS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hs1 +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sph -MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182900 -MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch OMIM:609009 YWHAQ semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hs1 +MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866785 MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182920 -MONDO:0008448 spheroid body myopathy skos:closeMatch OMIM:182920 myopathy, spheroid body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, spheroid body -MONDO:0008448 spheroid body myopathy skos:closeMatch OMIM:182920 myopathy, spheroid body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, spheroid body -MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 -MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida +MONDO:0008448 spheroid body myopathy skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, spheroid body MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida -MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntd +MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida +MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal meningocele @@ -7859,106 +7071,99 @@ MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida se MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182950 MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182960 MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866784 +MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, juvenile, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn1 -MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, juvenile, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:closeMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshsma -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant adult-onset proximal spinal muscular atrophy MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182980 -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smafk MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, proximal, adult, autosomal dominant -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smafk +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant adult-onset proximal spinal muscular atrophy MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182990 -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752124 -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wadia-swami syndrome -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752121 +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752121 +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion limb defect syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label splenogonadal fusion with limb defects and micrognathia MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion with limb defects and micrognathia -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with or without deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with or without deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75045 Split-Hand/Foot Malformation Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-foot deformity with mandibulofacial dysostosis -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-foot deformity with mandibulofacial dysostosis +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183700 MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866741 -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-foot deformity with mandibulofacial dysostosis +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-foot deformity with mandibulofacial dysostosis MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with congenital nystagmus, fundal changes, and cataracts MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus-split hand syndrome -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866740 MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866739 -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183802 +MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects -MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:closeMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spda2 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866728 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whyte syndrome MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with hypotrichosis MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with hypotrichosis -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whyte syndrome +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866728 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital spondyloepiphyseal dysplasia -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital spondyloepiphyseal dysplasia MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184095 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdstwk -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdc -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dappled metaphysis syndrome -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strudwick syndrome +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strudwick syndrome +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dappled metaphysis syndrome MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdc MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184252 -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdk MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184252 MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch OMIM:184255 spondylometaphyseal dysplasia, corner fracture iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdcf MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184400 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 @@ -7967,483 +7172,427 @@ MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformit MONDO:0008483 stuttering, familial persistent, 1 skos:closeMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stammering MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stapes ankylosis syndrome without symphalangism -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184460 -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3671377 +MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous cysts, multiple +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3671377 +MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0259771 -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex -MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866650 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex with natal teeth MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex with natal teeth -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenemia -MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pco1 MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pcos1 -MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pco1 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866649 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184705 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinfeld syndrome -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042044 -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 +MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff-person syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalomyelitis with rigidity MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-trunk syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff-person syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:300105 SMS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:300105 SMS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sms -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sms -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sps +MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalomyelitis with rigidity MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 -MONDO:0008492 stiff skin syndrome skos:closeMatch NCIT:C118636 Stiff Skin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184900 -MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff skin syndrome +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssks +MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff skin syndrome MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis +MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome +MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184900 +MONDO:0008492 stiff skin syndrome skos:closeMatch NCIT:C118636 Stiff Skin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohst -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overhydrated hereditary stomatocytosis MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185000 +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overhydrated hereditary stomatocytosis +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium-sodium disorder of erythrocyte -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohs -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohs MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185020 MONDO:0008494 cryohydrocytosis skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia cardiff -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185050 -MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strmk -MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym york platelet syndrome +MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy, asplenia, and miosis MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861451 MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stormorken-sjaastad-langslet syndrome MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185070 +MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym york platelet syndrome MONDO:0008498 strabismus, susceptibility to skos:closeMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861448 MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stratton-parker syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch OMIM:601559 stuve-wiedemann syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sws -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NCIT:C3391 Sturge-Weber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suprabulbar paresis, congenital -MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suprabulbar paresis, congenital +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185480 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 +MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 +MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suprabulbar paresis, congenital +MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suprabulbar paresis, congenital MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supravalvular aortic stenosis MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 +MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 MONDO:0008505 surface antigen, glycoprotein 75 skos:closeMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surface glycoprotein type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa5 MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa2 +MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa5 MONDO:0008508 symphalangism, C. S. Lewis type skos:closeMatch OMIM:185650 symphalangism, c. s. lewis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs, stiff -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, distal -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym2 -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185700 MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861401 +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, distal +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym2 MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185750 MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861391 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861385 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 MONDO:0008511 proximal symphalangism skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd1 +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd1 MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly -MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 -MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring and little finger syndactyly -MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 +MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement +MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 -MONDO:0008515 syndactyly type 4 skos:closeMatch OMIM:186200 syndactyly, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty4 -MONDO:0008515 syndactyly type 4 skos:closeMatch OMIM:186200 syndactyly, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd4 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 +MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 +MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring and little finger syndactyly MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861355 MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 +MONDO:0008515 syndactyly type 4 skos:closeMatch OMIM:186200 syndactyly, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd4 MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 +MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 MONDO:0008516 syndactyly type 5 skos:closeMatch OMIM:186300 syndactyly, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with metacarpal and metatarsal fusion -MONDO:0008516 syndactyly type 5 skos:closeMatch OMIM:186300 syndactyly, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty5 -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly-polydactyly-earlobe syndrome +MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spel syndrome MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly-polydactyly-earlobe syndrome +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly-polydactyly-earlobe syndrome MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186350 MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861347 -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186400 MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synostoses, tarsal, carpal, and digital MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, tarsal, carpal, and digital -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly +MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 +MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186400 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioaudiosymphalangism syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syns1 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-symphalangism syndrome of herrmann -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liebenberg syndrome -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lbnbg +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liebenberg syndrome MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcc -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis of talus and calcaneus with short stature +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861305 -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861303 +MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis of talus and calcaneus with short stature MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071755 +MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861303 MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186580 -MONDO:0008523 Blau syndrome skos:exactMatch OMIM:613797 PRSS33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eos -MONDO:0008523 Blau syndrome skos:exactMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eos -MONDO:0008523 Blau syndrome skos:exactMatch OMIM:606239 IKZF4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eos MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syringomyelia, noncommunicating isolated -MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syringomyelia, noncommunicating isolated MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 +MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syringomyelia, noncommunicating isolated MONDO:0008527 tarsal coalition skos:closeMatch OMIM:186850 tarsal coalition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tarsal fusion -MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobodontia MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conical teeth, multiple -MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth present at birth -MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth present at birth +MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobodontia MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natal teeth -MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbt -MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary benign +MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth present at birth +MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth present at birth MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, generalized essential -MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label telangiectasia, hereditary benign +MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary benign +MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbt MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473555 -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orw disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label telangiectasia, hereditary benign MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber +MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orw disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osler-rendu-weber disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187300 -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187360 -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranial arteritis +MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956391 +MONDO:0008538 temporal arteritis skos:closeMatch NCIT:C85018 Polymyalgia Rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 +MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranial arteritis MONDO:0008538 temporal arteritis skos:narrowMatch ICD10WHO:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:607030 GCA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gca -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:607030 GCA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gca +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica MONDO:0008538 temporal arteritis skos:narrowMatch ICD10CM:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement -MONDO:0008538 temporal arteritis skos:closeMatch NCIT:C85018 Polymyalgia Rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187390 MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931376 +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of MONDO:0008541 spermatic cord torsion skos:closeMatch OMIM:187400 testicular torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion of testicular cord -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 -MONDO:0008542 tetralogy of fallot skos:closeMatch NCIT:C84505 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187500 -MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tof -MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot -MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 +MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch NCIT:C84505 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187510 MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861233 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with straight femurs and cloverleaf skull -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with kleeblattschaedel -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with straight femurs and cloverleaf skull +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187770 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracolaryngopelvic dysplasia -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlpd -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdplt16 MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombasthenia-thrombocytopenia, hereditary +MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombasthenia-thrombocytopenia, hereditary MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 MONDO:0008554 thrombocythemia 1 skos:closeMatch OMIM:187950 thrombocythemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008554 thrombocythemia 1 skos:closeMatch OMIM:187950 thrombocythemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thcyt1 +MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 +MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 +MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 MONDO:0008555 thrombocytopenia 2 skos:closeMatch OMIM:188000 thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008555 thrombocytopenia 2 skos:closeMatch OMIM:188000 thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc2 MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcpt +MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956093 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617443 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188025 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 +MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021245 -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch OMIM:188030 thrombocytopenic purpura, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch OMIM:188030 thrombocytopenic purpura, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aitp -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph1 +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch NCIT:C99107 Venous Thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous thrombosis MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous thrombosis MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombosis, protection against MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch NCIT:C99107 Venous Thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous thrombosis -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph2 -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to activated protein c resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 5 leiden semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to activated protein c resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 5 leiden semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb deformity and alopecia -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb deformity and alopecia +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931366 +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb deformity and alopecia +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb deformity and alopecia MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188201 +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shprintzen syndrome -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym third and fourth pharyngeal pouch syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catch22 MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digeorge syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takao vcf syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym third and fourth pharyngeal pouch syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catch22 -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroglossal duct cyst, familial MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroglossal duct cyst, familial MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188455 MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495590 -MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmtc2 MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188470 -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial nonmedullary thyroid cancer, papillary -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonmedullary thyroid carcinoma, papillary -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmtc1 MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonmedullary thyroid carcinoma, papillary +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial nonmedullary thyroid cancer, papillary MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance due to t4 plasma membrane transport defect -MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect +MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch NCIT:C43429 Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label defect MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188570 -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188570 MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188580 -MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttpp1 +MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, infantile MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, infantile -MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861099 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188740 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861099 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyp +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym absent tibia-polydactyly syndrome -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia MONDO:0008575 nicotine dependence skos:closeMatch NCIT:C35074 Tobacco Use Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tobacco use disorder MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:closeMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic eruption of teeth MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406735 -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypodontia-dysplasia of nails syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189500 -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witkop syndrome -MONDO:0008582 tooth and nail syndrome skos:exactMatch OMIM:234500 hartnup disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hnd +MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406735 MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia with hypodontia +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witkop syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome MONDO:0008583 inherited torticollis skos:exactMatch NCIT:C182201 Torticollis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torticollis -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxemia of pregnancy -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pee1 MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxemia of pregnancy +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preg1 MONDO:0008585 HELLP syndrome skos:closeMatch NCIT:C34943 Toxemia of Pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toxemia of pregnancy -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189960 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:188595 TEF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tef -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:188595 TEF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tef +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch NCIT:C35080 Tracheoesophageal Fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheoesophageal fistula with or without esophageal atresia -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal atresia with or without tracheoesophageal fistula -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch NCIT:C35080 Tracheoesophageal Fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189961 -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsm1 -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trembling chin -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190100 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931589 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 +MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 +MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190100 +MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trembling chin MONDO:0008590 tremor, hereditary essential, 1 skos:closeMatch OMIM:190300 tremor, hereditary essential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, familial essential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008590 tremor, hereditary essential, 1 skos:closeMatch OMIM:190300 tremor, hereditary essential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym etm1 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, nystagmus, and duodenal ulcer MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tremor, nystagmus, and duodenal ulcer MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190310 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860860 -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tdo -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodentoosseous syndrome MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodentoosseous syndrome +MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodentoosseous syndrome MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190320 MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190330 MONDO:0008593 trichomegaly skos:closeMatch OMIM:190330 trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long -MONDO:0008593 trichomegaly skos:closeMatch OMIM:190330 trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcmgly -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label discoid fibromas, familial multiple +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodiscomas, familial multiple MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym discoid fibromas, familial multiple MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple trichodiscomas MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190340 -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodiscomas, familial multiple -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:604386 TRPS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trps1 -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps1 -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:604386 TRPS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps1 +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label discoid fibromas, familial multiple +MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugio-kajii syndrome -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sugio-kajii syndrome -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps3 MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190351 -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860822 +MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodysplasia-xeroderma MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodysplasia-xeroderma MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190400 -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040997 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190400 MONDO:0008599 trigeminal neuralgia skos:closeMatch OMIM:190400 trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tic douloureux -MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigno1 +MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190440 MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs and dislocation of patella MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs and dislocation of patella -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190680 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190680 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs with brachyectrodactyly MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs with brachyectrodactyly -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome critical region MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, megakaryoblastic, of down syndrome -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient myeloproliferative disorder of down syndrome MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome chromosome region -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient myeloproliferative disorder of down syndrome MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 -MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome critical region MONDO:0008608 Down syndrome skos:closeMatch NCIT:C101222 Complete Trisomy 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label complete trisomy type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044688 +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 +MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 MONDO:0008609 Tristichiasis skos:closeMatch OMIM:190800 tristichiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, three rows of -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritan MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190900 MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155017 +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blue colorblindness -MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trochlea of the humerus, aplasia of -MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlea of the humerus, aplasia of +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritan MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191000 -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlea of the humerus, aplasia of +MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trochlea of the humerus, aplasia of MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc1 -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:605284 TSC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tsc1 -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:605284 TSC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc1 +MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191100 MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch NCIT:C9039 Cervical Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical carcinoma @@ -8451,56 +7600,54 @@ MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch OMIM:191181 suppres MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tone deafness MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysmelodia MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amusia, congenital -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, hypoplasia of +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, hypoplasia of MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, hypoplasia of -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, hypoplasia of +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 +MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191440 MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uncombable hair syndrome -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 +MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili trianguli et canaliculi MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uncombable hair syndrome +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili trianguli et canaliculi +MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 +MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 MONDO:0008623 Undritz anomaly skos:closeMatch OMIM:191500 undritz anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersegmentation of nuclei of polymorphonuclear leukocytes MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860596 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191520 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 MONDO:0008624 Upington disease skos:closeMatch OMIM:191520 upington disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perthes-like hip disorder, enchondromata, and ecchondromata semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureter, cancer of MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureter, cancer of +MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureter, cancer of MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:closeMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, uric acid, autosomal dominant -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NCIT:C119054 Muckle-Wells Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064569 MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uda syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NCIT:C119054 Muckle-Wells Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192050 -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis -MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, cleft MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uvula, bifid +MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, cleft MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, bifid MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym varicose veins MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label varicose veins @@ -8508,3382 +7655,3076 @@ MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemi MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860518 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroretinal vasculopathy, hereditary -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1735591 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220708 +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192350 -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1735591 -MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater/vacterl association MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater/vacterl association -MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater/vacterl association +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192430 MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome +MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192445 MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular extrasystoles with syncope, perodactyly, and robin sequence MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular extrasystoles with syncope, perodactyly, and robin sequence -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192445 MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric septal hypertrophy -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular hypertrophy, hereditary +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008648 ventricular tachycardia, familial skos:closeMatch OMIM:192605 ventricular tachycardia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, familial polymorphic +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860464 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral fusion, posterior lumbosacral, with blepharoptosis MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral fusion, posterior lumbosacral, with blepharoptosis -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860464 -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 +MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 +MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertical talus, congenital +MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertical talus, congenital MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pes valgus, congenital convex MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 -MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertical talus, congenital -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 -MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvt MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rocker-bottom foot -MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertical talus, congenital -MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux -MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch OMIM:193000 vesicoureteral reflux 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vur MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193000 +MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux MONDO:0008654 nystagmus 4, congenital, autosomal dominant skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vestibulocerebellar disorder with predominant ocular signs -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin r binder protein deficiency -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin pseudodeficiency due to transcobalamin deficiency +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r binder deficiency with lactoferrin deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn1 deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency with lactoferrin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r binder deficiency with lactoferrin deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193090 -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin pseudodeficiency due to transcobalamin deficiency -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342642 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin r binder protein deficiency MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193100 MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal dominant MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets, autosomal dominant +MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342642 MONDO:0008661 vitiligo skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitiligo -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitreoretinochoroidopathy -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vrcp -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy with microcornea, glaucoma, and cataract -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch OMIM:193230 vitreoretinal degeneration, snowflake iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym svd -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy with microcornea, glaucoma, and cataract +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitreoretinochoroidopathy +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 +MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 +MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193240 +MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord paralysis and ptosis MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860403 MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord paralysis and ptosis -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord paralysis and ptosis MONDO:0008666 volvulus of midgut skos:closeMatch OMIM:193250 volvulus of midgut semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal malrotation, familial MONDO:0008667 von Hippel-Lindau disease skos:closeMatch OMIM:193300 von hippel-lindau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von hippel-lindau syndrome, modifiers of -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch OMIM:608537 VHL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vhl -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch OMIM:608537 VHL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vhl MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193300 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome with dystopia canthorum -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847800 +MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 +MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome with dystopia canthorum MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome without dystopia canthorum -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 +MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 +MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis with cafe-au-lait spots MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cafe-au-lait spots with pulmonic stenosis -MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wtsn -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch OMIM:193530 weyers acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrodental dysostosis of weyers MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch OMIM:193530 weyers acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wad MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457013 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 +MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 +MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch OMIM:193700 arthrogryposis, distal, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da2a -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 -MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn1 +MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 +MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukokeratosis, hereditary mucosal MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon +MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukokeratosis, hereditary mucosal +MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon -MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs +MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, type 1.5- to type 1.8-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049644 -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 -MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:607102 WT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt1 -MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:607102 WT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wt1 +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 +MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastoma MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephroblastoma MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194070 -MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt1 -MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastoma MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194071 -MONDO:0008680 Wilms tumor 2 skos:closeMatch OMIM:194071 wilms tumor 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt2 -MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931803 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194072 -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931803 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194072 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206115 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dds -MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor and pseudo- or true hermaphroditism -MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, wilms tumor, and genital anomalies +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194080 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, wilms tumor, and genital anomalies +MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor and pseudo- or true hermaphroditism MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194090 -MONDO:0008683 Wilms tumor 3 skos:closeMatch OMIM:194090 wilms tumor 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt3 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194190 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch OMIM:194190 wolf-hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 4p16.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch OMIM:194190 wolf-hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whs MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194190 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preexcitation syndrome -MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory atrioventricular pathways MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wpw syndrome -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, autosomal dominant -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adwh +MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory atrioventricular pathways MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048017 -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, autosomal dominant MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194350 MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 +MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194350 +MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis, hereditary -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhs1 +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis, hereditary MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis, hereditary -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:304350 deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhs +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194400 -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194470 -MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia, familial dysalbuminemic -MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia +MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albumin binding of zinc, elevated +MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia +MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia, familial dysalbuminemic MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bassen-kornzweig syndrome -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200100 -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 -MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microsomal triglyceride transfer protein deficiency -MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtp deficiency -MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abl MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis +MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtp deficiency +MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microsomal triglyceride transfer protein deficiency MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ams -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ablepharon-macrostomia syndrome -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 +MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 +MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 +MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200100 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200110 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860224 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ablepharon-macrostomia syndrome +MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 +MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent eyebrows and eyelashes with mental retardation MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label absent eyebrows and eyelashes with mental retardation -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 +MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with neurologic disorder -MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoacanthocytosis -MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoacanthocytosis -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200150 MONDO:0008695 chorea-acanthocytosis skos:closeMatch NCIT:C84926 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoacanthocytosis +MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200150 MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans with muscle cramps and acral enlargement -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200170 MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans with muscle cramps and acral enlargement +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200170 MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achalasia MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal achalasia -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200450 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860212 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 -MONDO:0008700 acheiropody skos:closeMatch OMIM:200500 acheiropody semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achp +MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200450 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 +MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 -MONDO:0008701 achondrogenesis type IA skos:closeMatch OMIM:200600 achondrogenesis, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acg1a -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 +MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrogenesis imperfecta +MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrogenesis imperfecta -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acg2 -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200700 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265260 -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200700 MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200700 acromesomelic dysplasia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondrogenesis, brazilian -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268410 MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200950 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200970 +MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860166 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand and split-foot with mandibular hypoplasia +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-uterine-mandibular syndrome +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand and split-foot with mandibular hypoplasia MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrorenal-mandibular syndrome MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-mandibular syndrome -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796147 -MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux duplication, postaxial polydactyly, and absence of corpus callosum MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux duplication, postaxial polydactyly, and absence of corpus callosum MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200990 -MONDO:0008708 acrocallosal syndrome skos:exactMatch OMIM:605832 ACSS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acs +MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796147 MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495588 MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elejalde syndrome -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200995 +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495588 +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200995 MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201000 MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crpt1 +MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860145 MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201050 -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae +MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860145 MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201100 +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201170 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis syndrome of rodriguez MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofacial dysostosis syndrome of rodriguez MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodriguez lethal acrofacial dysostosis syndrome -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201170 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym affn dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860118 MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860118 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406584 MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201200 +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 MONDO:0008716 acrogeria skos:closeMatch OMIM:201200 acrogeria, gottron iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metageria -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406584 +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201250 MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201310 MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796290 -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iad -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital isolated acth deficiency -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iad -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth deficiency, isolated MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth deficiency, isolated -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth deficiency, isolated +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120433 Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocorticotropic hormone deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220710 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, medium-chain, deficiency of MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcadh deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acadmd -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, short-chain, deficiency of -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acadsd -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, short-chain, deficiency of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, short-chain, deficiency of +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, short-chain, deficiency of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scadh deficiency -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, very long-chain, deficiency of -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609575 ACADVL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vlcad -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acadvld -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, very long-chain, deficiency of +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887523 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201475 -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, very long-chain, deficiency of +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, very long-chain, deficiency of MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201550 -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342474 -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid congenital adrenal hyperplasia -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid congenital adrenal hyperplasia -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcah +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201750 -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abs1 -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NCIT:C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 21-hydroxylase deficiency -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenism, nonclassic type, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyp21 deficiency -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 21-hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NCIT:C131087 21-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 21-hydroxylase deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p450c11b1 deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 11-beta-hydroxylase deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268292 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p450c11b1 deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase deficiency -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859978 MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202150 +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202155 -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcc MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical carcinoma, pediatric -MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202355 +MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency due to defect distal to acth receptor -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd2b -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement +MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202355 MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C26692 Factor I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label factor i deficiency -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 +MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 +MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 +MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement +MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afibrinogenemia, congenital +MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia, congenital -MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C98130 Afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial afibrinogenemia -MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch OMIM:202650 agnathia-otocephaly complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgnathia complex agnathia-holoprosencephaly +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C26692 Factor I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label factor i deficiency +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C98130 Afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202650 -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch OMIM:202650 agnathia-otocephaly complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agotc -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 +MONDO:0008740 agnathia-otocephaly complex skos:closeMatch OMIM:202650 agnathia-otocephaly complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgnathia complex agnathia-holoprosencephaly MONDO:0008741 PAGOD syndrome skos:closeMatch OMIM:202660 pagod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agonadism with multiple internal malformations +MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia with alar clefts -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia with alar clefts MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alar-nasal cartilages, coloboma of, with telecanthus +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia with alar clefts +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia with alar clefts MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203000 MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859964 MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch NCIT:C168731 Oculocutaneous Albinism Type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown oculocutaneous albinism -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, brown oculocutaneous -MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch OMIM:611409 OCA2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oca2 -MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch OMIM:611409 OCA2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oca2 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203200 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, brown oculocutaneous +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown oculocutaneous albinism MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xanthism MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps1 -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta storage pool disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:604982 HPS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hps1 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:604982 HPS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps1 +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta storage pool disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php2 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203330 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203330 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism-microcephaly-digital anomalies syndrome +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism-microcephaly-digital anomalies syndrome +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism-microcephaly-digital anomalies syndrome +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203400 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 -MONDO:0008752 Alexander disease skos:closeMatch OMIM:203450 alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alxdrd -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002066 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931645 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203500 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008753 alkaptonuria skos:closeMatch OMIM:203500 alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aku -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203550 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-contractures-dwarfism mental retardation syndrome -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-contractures-dwarfism mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-contractures-dwarfism mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 -MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moynahan alopecia syndrome MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-epilepsy-oligophrenia syndrome of moynahan +MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moynahan alopecia syndrome MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-epilepsy-oligophrenia syndrome of moynahan MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203600 MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amr syndrome +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008757 alopecia universalis congenita skos:closeMatch OMIM:203655 alopecia universalis congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alunc +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 MONDO:0008757 alopecia universalis congenita skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal degeneration of childhood with liver disorder, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps4a MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal degeneration of childhood with liver disorder, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-kgd deficiency MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-ketoglutarate dehydrogenase deficiency MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-methylacetoacetic aciduria +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-ktd deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203750 MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial acetoacetyl-coa thiolase deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068783 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 +MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068783 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:118960 CLTA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lca -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lca MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204000 -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204100 +MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amaurosis congenita, cone-rod type, with congenital hypertrichosis MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204110 +MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amaurosis congenita, cone-rod type, with congenital hypertrichosis +MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spielmeyer-sjogren disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, juvenile -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt-spielmeyer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:607042 CLN3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln3 -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spielmeyer-sjogren disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:607042 CLN3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln3 +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln4a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln2 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, local hypoplastic type, autosomal recessive +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 +MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, local hypoplastic type, autosomal recessive MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 +MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204690 +MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic, with nephrocalcinosis -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia1 MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia1 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia1 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204750 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204870 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339273 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gdld -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, gelatinous drop-like -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgdl MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, gelatinous drop-like MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, corneal MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgdl +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, gelatinous drop-like +MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 -MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch OMIM:606352 ALS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym als2 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205100 -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch OMIM:606352 ALS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label als2 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als, juvenile MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis, juvenile, with dementia -MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-dementia complex +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205250 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051875 -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039292 -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 MONDO:0008783 Tangier disease skos:closeMatch OMIM:205400 tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tgd +MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039292 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 +MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sidba2 -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, pyridoxine-responsive, autosomal recessive -MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital sideroblastic, b6-responsive MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, pyridoxine-responsive, autosomal recessive -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital sideroblastic, b6-responsive MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmio1 MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206100 +MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206200 -MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-iron-deficiency anemia MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron-handling disorder, hereditary -MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irida +MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-iron-deficiency anemia MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206500 -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipomatosis, familial -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiolipomatosis, familial MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipoma microthromboticum +MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 +MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:closeMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym divry-van bogaert syndrome -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glsp -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, cerebellar ataxia, and mental retardation +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gillespie syndrome +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206700 -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gillespie syndrome -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, partial, with unilateral renal agenesis and psychomotor retardation -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206750 +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859782 -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anodontia of permanent dentition +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206750 MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, permanent, absence of +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anodontia of permanent dentition +MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002583 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002583 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206780 -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia totalis -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia congenita -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc4 MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia congenita totalis MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-esophageal-genital syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with associated anomalies +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia totalis +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia congenita +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with associated anomalies +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-esophageal-genital syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch OMIM:206920 microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-syndactyly MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206920 MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures MONDO:0008803 Antley-Bixler syndrome skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangy with hemivertebrae +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangy with hemivertebrae MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207620 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangy with hemivertebrae -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangy with hemivertebrae MONDO:0008807 apnea, central sleep skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with intestinal lymphangiectasia -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital extensor muscle aplasia-polyneuropathy MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930955 +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital extensor muscle aplasia-polyneuropathy +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apoc2 deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c-ii anapolipoproteinemia MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein c-ii deficiency -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720779 +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268199 MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720779 MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268199 -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795952 +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly +MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xk aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795952 MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 +MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly syndrome MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342280 -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes -MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aredyld -MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aredyld -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 +MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078981 MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 -MONDO:0008814 hyperargininemia skos:closeMatch OMIM:207800 argininemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arg1 deficiency -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 +MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 +MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 +MONDO:0008814 hyperargininemia skos:closeMatch OMIM:207800 argininemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arg1 deficiency +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch OMIM:207900 argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argininosuccinate lyase deficiency MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207900 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch OMIM:207900 argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argininosuccinate lyase deficiency -MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm2 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arnold-chiari malformation +MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207950 MONDO:0008816 Chiari malformation type II skos:closeMatch NCIT:C84570 Arnold-Chiari Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arnold-chiari malformation +MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm2 MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056945 -MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207950 -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaci1 MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary sclerosis, medial, of infancy +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriopathy, occlusive infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification, idiopathic infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaci -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriopathy, occlusive infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208000 MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859726 -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:301050 alport syndrome 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial tortuosity MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208050 -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats +MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial tortuosity +MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208085 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcs1 -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208100 -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fads +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal akinesia deformation sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal akinesia deformation sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label illum syndrome +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, whistling face, and developmental retardation -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label illum syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859711 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome +MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 +MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859710 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with hyperkeratosis MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis with hyperkeratosis -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859710 -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthropathy, progressive pseudorheumatoid, of childhood -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive pseudorheumatoid dysplasia +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppd MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive pseudorheumatoid dysplasia -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208250 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive pseudorheumatoid dysplasia +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic synovitis, congenital familial MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosing serositis, familial -MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascites, chylous +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208250 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003446 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208300 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ascites, chylous -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agu -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoasparaginase -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency +MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 +MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascites, chylous +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068220 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268225 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208400 -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracic-pelvic-phalangeal dystrophy +MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoasparaginase +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeune syndrome +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracic-pelvic-phalangeal dystrophy +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208500 MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vah, autosomal recessive MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right isomerism -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysplenia syndrome -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rai +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotaxy, visceroatrial, autosomal recessive MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068335 +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysplenia syndrome MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rai -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:605263 SHC3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rai -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia -MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd1 +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vah, autosomal recessive MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208540 MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asa triad -MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, aspirin-induced, susceptibility to MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and nasal polyps +MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, aspirin-induced, susceptibility to MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208850 -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-retardation syndrome MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adr syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-retardation syndrome MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-retardation syndrome MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:closeMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc syndrome -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group e +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group d +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group a +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003594 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at1 -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group a -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group e -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group d -MONDO:0008840 ataxia telangiectasia skos:closeMatch NCIT:C25427 At semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label at -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:603690 SLC33A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at1 MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208910 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eaoh +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208920 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia syndrome -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with hypoalbuminemia -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208920 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotransferrinemia, familial -MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transferrin serum level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521802 MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209300 -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209500 -MONDO:0008847 atrichia with papular lesions skos:closeMatch OMIM:209500 atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apl -MONDO:0008847 atrichia with papular lesions skos:closeMatch OMIM:612376 acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apl +MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521802 +MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 +MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotransferrinemia, familial +MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transferrin serum level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859592 +MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209500 MONDO:0008848 atrioventricular dissociation skos:closeMatch OMIM:209600 atrioventricular dissociation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym a-v dissociation -MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata -MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ava +MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata +MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, multiple congenital anomalies, and mental retardation MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aural atresia, multiple congenital anomalies, and mental retardation -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbrsay +MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 -MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209901 BBS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs1 -MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209901 BBS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs1 +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class ii deficiency -MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome +MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 +MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class ii deficiency +MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr1 deficiency, autosomal recessive MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 27a, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd27a +MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement -MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beemer lethal malformation syndrome -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beemer lethal malformation syndrome MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 +MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859526 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209970 -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859526 +MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beemer lethal malformation syndrome +MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beemer lethal malformation syndrome MONDO:0008858 Behr syndrome skos:closeMatch OMIM:210000 behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile hereditary, with neurologic abnormalities -MONDO:0008858 Behr syndrome skos:closeMatch OMIM:210000 behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym behrs MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label behr syndrome MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:closeMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral aneurysm-cirrhosis syndrome -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baib urinary excretion -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baiba MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baib urinary excretion +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1d MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylcrotonyl-coa carboxylase deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc deficiency -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc2d +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylcrotonyl-coa carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc2 deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210210 -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342907 -MONDO:0008863 sitosterolemia skos:closeMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia/stomatocytosis, mediterranean -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 -MONDO:0008863 sitosterolemia skos:closeMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stsl MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 MONDO:0008863 sitosterolemia skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytosterolemia +MONDO:0008863 sitosterolemia skos:closeMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia/stomatocytosis, mediterranean MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063985 +MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342907 +MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859487 MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210350 MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bietti crystalline corneoretinal dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bietti crystalline corneoretinal dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bietti crystalline dystrophy +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bietti crystalline corneoretinal dystrophy +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bietti crystalline corneoretinal dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859486 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti tapetoretinal degeneration with marginal corneal dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median fissure of nose MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nose, median cleft of MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210400 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated biliary atresia +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003650 +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 MONDO:0008868 biliary malformation with renal tubular insufficiency skos:closeMatch OMIM:210550 biliary malformation with renal tubular insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestatic jaundice and renal tubular insufficiency -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanocephalic dwarfism -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephalic primordial dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seckel-type dwarfism +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanocephalic dwarfism +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephalic primordial dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210600 -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephalic primordial dwarfism, montreal type +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seckel-type dwarfism +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210700 -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephalic primordial dwarfism, montreal type MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism, montreal type -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210710 -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd1 -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210710 +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210720 -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd2 MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210730 -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 +MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 +MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 +MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 MONDO:0008874 Bangstad syndrome skos:closeMatch OMIM:210740 bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with ptosis, syndactyly, and short stature -MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bs -MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blm -MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth restriction, and increased sister chromatid exchange type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 +MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005859 -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 -MONDO:0008877 blue diaper syndrome skos:closeMatch OMIM:211000 blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial, with nephrocalcinosis and indicanuria +MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth restriction, and increased sister chromatid exchange type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 +MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211120 +MONDO:0008877 blue diaper syndrome skos:closeMatch OMIM:211000 blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial, with nephrocalcinosis and indicanuria MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859407 +MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211120 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch OMIM:211180 bowen-conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowen hutterite syndrome, formerly -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch OMIM:211180 bowen-conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bwcns MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211180 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 -MONDO:0008881 kyphomelic dysplasia skos:closeMatch OMIM:211350 kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing, congenital, with short bones -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 +MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 +MONDO:0008881 kyphomelic dysplasia skos:closeMatch OMIM:211350 kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing, congenital, with short bones +MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 +MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211355 +MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054064 MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of long bones, asymmetric and symmetric MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bowing of long bones, asymmetric and symmetric -MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054064 -MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211355 MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211370 MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859385 MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211380 MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch OMIM:211390 sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle hair and mental deficit +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym besc1 -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211400 -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C98847 Bronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchomalacia +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C85195 Tracheobronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchomalacia -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch OMIM:211450 williams-campbell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronchomalacia -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 -MONDO:0008889 thromboangiitis obliterans skos:closeMatch NCIT:C35070 Buerger Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040021 +MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 +MONDO:0008889 thromboangiitis obliterans skos:closeMatch NCIT:C35070 Buerger Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bulbar palsy, progressive, of childhood MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bvvls1 -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NCIT:C84453 Progressive Familial Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211750 MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 MONDO:0008893 C syndrome skos:closeMatch OMIM:211750 c syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly syndrome +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch OMIM:211770 cahmr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, hypertrichosis, mental retardation syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch OMIM:605441 ADIPOQ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acdc MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch OMIM:211800 calcification of joints and arteries semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification due to deficiency of cd73 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211800 -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 -MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome -MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical lymphocele with bowed long bones MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859371 +MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 +MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical lymphocele with bowed long bones +MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859359 -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciothoracoskeletal syndrome -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcs1 MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211920 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859356 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung cancer, protection against MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer MONDO:0008903 lung cancer skos:closeMatch NCIT:C3200 Lung Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung neoplasm -MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung cancer, protection against MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar cell carcinoma MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211990 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card9 immunodeficiency -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card9 immunodeficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212065 +MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch OMIM:212065 congenital disorder of glycosylation, iia ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaeken syndrome -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkuraya syndrome -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iia +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, growth retardation, prominent columella, and open mouth +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkuraya syndrome MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931008 MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:closeMatch OMIM:212067 congenital disorder of glycosylation, iia i/iix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg-x MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212080 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with hypergonadotropic hypogonadism +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy with primary testicular failure +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with premature ovarian failure MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genital anomaly with cardiomyopathy +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with hypergonadotropic hypogonadism MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy with primary testicular failure +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796083 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796031 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with premature ovarian failure +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genital anomaly with cardiomyopathy +MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 +MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212135 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212135 -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212138 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cactd MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, systemic primary -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine transporter, plasma-membrane, deficiency of -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, primary MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine uptake defect +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine deficiency, systemic primary -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, primary -MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocarnosinosis -MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocarnosinosis MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212200 MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495555 +MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocarnosinosis +MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocarnosinosis +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212350 +MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy and cataract MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859317 -MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy and cataract MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212350 -MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 10 (cardiomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 10 (cardiomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859316 -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkca2 -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212360 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract and congenital ichthyosis MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract and congenital ichthyosis MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212500 MONDO:0008926 COFS syndrome skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cofs syndrome MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220722 -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odrmd MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy-cataract-deafness syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract-ataxia-deafness-retardation syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic disc anomalies with retinal and/or macular dystrophy +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic disc anomalies with retinal and/or macular dystrophy MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212710 MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 -MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac1 -MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract-ataxia-deafness-retardation syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy-cataract-deafness syndrome MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac sprue, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212780 -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cenani syndactylism -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859309 -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clss MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cenani-lenz syndrome -MONDO:0008932 premature centromere division skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd +MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859309 +MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cenani syndactylism MONDO:0008932 premature centromere division skos:closeMatch OMIM:212790 premature centromere division semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-chromosome centromere peculiarity -MONDO:0008932 premature centromere division skos:exactMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0008932 premature centromere division skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia and ectodermal dysplasia -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and ectodermal dysplasia MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212835 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859306 -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and hypogonadotropic hypogonadism -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone-releasing hormone, deficiency of, with ataxia +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212835 +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and ectodermal dysplasia +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia and ectodermal dysplasia MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon holmes syndrome MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhrh deficiency and ataxia MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon holmes syndrome -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gdhs +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone-releasing hormone, deficiency of, with ataxia +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and hypogonadotropic hypogonadism MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212840 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:closeMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with loss of pain and temperature sensation -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393520 +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393520 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008033 MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granular cell hypoplasia and mental retardation, congenital -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granular cell hypoplasia and mental retardation, congenital MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859298 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebelloparenchymal disorder type 3 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213200 -MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome -MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859298 MONDO:0008944 Joubert syndrome 1 skos:closeMatch NCIT:C74996 Joubert Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome +MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssynergia cerebellaris myoclonica of hunt -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsay hunt syndrome -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinodentate atrophy +MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssynergia cerebellaris myoclonica of hunt +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsay hunt syndrome +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssynergia cerebellaris myoclonica of hunt MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ramsay hunt syndrome -MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial brain calcification +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinodentate atrophy MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym idiopathic basal ganglia calcification -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059626 MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NCIT:C179297 Idiopathic Basal Ganglia Calcification semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label idiopathic basal ganglia calcification +MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial brain calcification +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059626 +MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C120031 CTX semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctx MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213700 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cholesterinosis -MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C120031 CTX semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctx +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213700 MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213900 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group e +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd1a -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd2a MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs2 -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214300 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal recessive -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs, autosomal recessive +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008959 CHAND syndrome skos:closeMatch OMIM:214350 chand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome +MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406733 MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214350 -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label charcot-marie-tooth disorder-deafness-intellectual disability syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214370 -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 +MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214400 +MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym griscelli syndrome with neurologic impairment MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial albinism and primary neurologic disorder without hemophagocytic syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008415 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007965 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloridorrhea, congenital -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar1 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital chloride diarrhea MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital chloride diarrhea +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloridorrhea, congenital MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064063 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265354 MONDO:0008965 CHARGE syndrome skos:closeMatch OMIM:214800 charge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 +MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064063 MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-cholestasis syndrome MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis-lymphedema syndrome -MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214950 -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215045 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcdp1 +MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophia calcificans punctata MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata syndrome MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata syndrome +MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata syndrome MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215105 -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grbgd -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moth-eaten skeletal dysplasia -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hem skeletal dysplasia -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops-ectopic calcification-moth-eaten skeletal dysplasia MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 +MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops-ectopic calcification-moth-eaten skeletal dysplasia MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931048 +MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hem skeletal dysplasia +MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moth-eaten skeletal dysplasia +MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-insley syndrome MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osmed -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008479 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008479 +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chordoma, susceptibility to -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chdm -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008747 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 +MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chordoma, susceptibility to +MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 +MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215400 MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215450 MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859098 MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign hereditary chorea -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118700 -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215470 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859093 +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215470 +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus calcification and mental retardation MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus calcification and mental retardation -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cacd1 +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rutland ciliary disorientation syndrome MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215518 MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215520 -MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinuria +MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia, classic MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia, classic -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058298 MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215700 -MONDO:0008990 cleft larynx, posterior skos:closeMatch OMIM:215800 cleft larynx, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stridor, congenital +MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058298 +MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinuria MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215850 +MONDO:0008990 cleft larynx, posterior skos:closeMatch OMIM:215800 cleft larynx, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stridor, congenital MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859082 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clh syndrome -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft-limb-heart malformation syndrome MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft-limb-heart malformation syndrome -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft-limb-heart malformation syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clh syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215850 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch OMIM:216100 juberg-hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jhs +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch OMIM:216100 juberg-hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with abnormal thumbs and microcephaly -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, deafness, and oligodontia MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, deafness, and oligodontia +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, deafness, and oligodontia MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216300 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859081 MONDO:0008994 cleidocranial dysplasia, recessive form skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216330 -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857663 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216340 -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch OMIM:216340 yunis-varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yvs MONDO:0008995 Yunis-Varon syndrome skos:closeMatch OMIM:216340 yunis-varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857663 MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepper syndrome MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, obesity, and prominent incisors -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coh1 MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chs1, formerly +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepper syndrome +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coh MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenosis, familial reactive perforating -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857624 -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpc -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenosis, familial reactive perforating +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857624 MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216800 MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma of macula and skeletal anomalies MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of macula and skeletal anomalies MONDO:0009002 coloboma, ocular, autosomal recessive skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216820 +MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216900 -MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total -MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216950 +MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216900 MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch NCIT:C119991 C1r/C1s Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c1r/c1s deficiency MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch OMIM:216950 complement component c1r/c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1r/c1s deficiency -MONDO:0009006 complement component 2 deficiency skos:closeMatch OMIM:217000 complement component 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c2d +MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216950 MONDO:0009006 complement component 2 deficiency skos:closeMatch OMIM:217000 complement component 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c2 deficiency -MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217000 MONDO:0009006 complement component 2 deficiency skos:closeMatch NCIT:C119992 C2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c2 deficiency +MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217000 +MONDO:0009007 Jalili syndrome skos:closeMatch OMIM:217080 jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and amelogenesis imperfecta MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495589 MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217080 -MONDO:0009007 Jalili syndrome skos:closeMatch OMIM:217080 jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and amelogenesis imperfecta -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, hamartomas of tongue, and polysyndactyly MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, hamartomas of tongue, and polysyndactyly -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chdthp +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931046 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, hamartomas of tongue, and polysyndactyly -MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligneous conjunctivitis -MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasminogenemia +MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398621 MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968804 -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398621 +MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasminogenemia +MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligneous conjunctivitis MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022599 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractures, congenital, torticollis, and malignant hyperthermia +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures, congenital, torticollis, and malignant hyperthermia -MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cna2 -MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractures, congenital, torticollis, and malignant hyperthermia MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217300 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and sensorineural deafness -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpd1 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy and perceptive deafness -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpd1 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857572 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 -MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, band-shaped +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, band-shaped +MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, band-shaped MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1622427 MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217600 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217700 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hereditary endothelial dystrophy type ii MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal endothelial dystrophy MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital hereditary endothelial -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 -MONDO:0009020 macular corneal dystrophy skos:exactMatch OMIM:606761 MLYCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0009020 macular corneal dystrophy skos:exactMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdc1, formerly +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, corneal +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdc1, formerly +MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024439 MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025406 -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217980 -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796184 +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and robin sequence MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and robin sequence -MONDO:0009022 corpus callosum, agenesis of skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc -MONDO:0009022 corpus callosum, agenesis of skos:closeMatch OMIM:217990 corpus callosum, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc +MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217980 +MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796184 MONDO:0009022 corpus callosum, agenesis of skos:closeMatch Orphanet:200 Isolated corpus callosum agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated corpus callosum agenesis MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical blindness, retardation, and postaxial polydactyly MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical blindness, retardation, and postaxial polydactyly MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218010 MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857568 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936861 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887949 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936861 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol type 11-beta-ketoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame1 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apparent mineralocorticoid excess -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0587248 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame1 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 -MONDO:0009026 Costello syndrome skos:closeMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cstlo MONDO:0009026 Costello syndrome skos:closeMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with excess of muscle spindles -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218090 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0587248 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 +MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 +MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218090 MONDO:0009028 Crane-Heise syndrome skos:closeMatch OMIM:218090 crane-heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410539 -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch OMIM:218300 craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdd MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218300 -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdd -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdd -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensenbrenner syndrome -MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ced -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 +MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218340 +MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 +MONDO:0009033 temtamy syndrome skos:closeMatch NCIT:C148371 Temtamy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtys -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch NCIT:C148371 Temtamy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dyssynostosis with short stature -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dyssynostosis with short stature -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmdr +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfeiffer cardiocranial syndrome -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfeiffer cardiocranial syndrome MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218450 MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with fibular aplasia MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis with fibular aplasia -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218600 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218600 +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baller-gerold syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bgs MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218670 -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857471 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 +MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 +MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218670 MONDO:0009043 generalized resistance to thyroid hormone skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crigler-najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crigler-najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crigler-najjar syndrome MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218900 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795914 -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome MONDO:0009046 Fraser syndrome skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fraser syndrome -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 -MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos with other malformations -MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptorchidism, unilateral or bilateral +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome +MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome +MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptorchidism, unilateral or bilateral +MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptorchidism, unilateral or bilateral MONDO:0009048 curved nail of fourth toe skos:closeMatch OMIM:219070 curved nail of fourth toe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-like fingers and toes -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NCIT:C113210 Cushing Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857449 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219095 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous photosensitivity and colitis, lethal +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous photosensitivity and colitis, lethal +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous photosensitivity and colitis, lethal MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, autosomal recessive MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219100 MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, corneal clouding, and mental retardation MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2a -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:614434 cutis laxa, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcl2 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2a +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219250 MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 +MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219250 MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219300 MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch OMIM:219300 cutis verticis gyrata and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvg/mr MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219500 MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220993 MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268616 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010674 +MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011762 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219700 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011762 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219721 -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857423 +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931013 +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, benign nonnephropathic MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, ocular nonnephropathic -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, adult nonnephropathic MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystinosis, adult nonnephropathic -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, benign nonnephropathic -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, adult nonnephropathic MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268626 +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, intermediate -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 -MONDO:0009067 cystinuria skos:closeMatch OMIM:220100 cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnu -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 -MONDO:0009070 D-glyceric aciduria skos:closeMatch OMIM:220120 d-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycerate kinase deficiency MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia +MONDO:0009070 D-glyceric aciduria skos:closeMatch OMIM:220120 d-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycerate kinase deficiency MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation +MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NCIT:C75012 Dandy-Walker Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation MONDO:0009072 Dandy-Walker syndrome skos:closeMatch OMIM:220200 dandy-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch OMIM:220200 dandy-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dws -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3c syndrome -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtsc1 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ritscher-schinzel syndrome MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220210 +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220219 MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857352 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220220 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with postaxial polydactyly +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with postaxial polydactyly -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb3 +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with postaxial polydactyly MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb6 -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb3 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220290 -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb1a +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitorenocerebral syndrome +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220290 +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eronen syndrome MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly due to absence of distal phalanges -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitorenocerebral syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 +MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with split hands and feet MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with split hands and feet MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split hand-split foot-deafness syndrome MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857344 +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221200 MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and myopia -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfnmyp MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness and myopia -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857341 -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with malformed external ear MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with malformed external ear +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857341 +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with ptosis and skeletal anomalies +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with ptosis and skeletal anomalies +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221320 -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with ptosis and skeletal anomalies -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with ptosis and skeletal anomalies MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with vitiligo and achalasia MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with vitiligo and achalasia MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 +MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221745 -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cphd3 -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with rigid cervical spine MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with pituitary dwarfism +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain-bone-fat disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, prefrontal, with bone cysts MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, prefrontal, with bone cysts MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile dementia with bone cysts -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plosl -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasu-hakola disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857316 -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasu-hakola disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432288 +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221800 +MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432288 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch OMIM:221800 dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym francois syndrome MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 +MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirghizian dermatoosteolysis -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment and falciform detachment MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment, nonsyndromic congenital MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221900 -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phpvar MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent fetal vasculature -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification +MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment and falciform detachment MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221995 -MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:exactMatch OMIM:606201 WFS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wfs1 -MONDO:0009101 Wolfram syndrome 1 skos:exactMatch OMIM:606201 WFS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wfs1 +MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wfs -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness MONDO:0009102 diaminopentanuria skos:closeMatch OMIM:222350 diaminopentanuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystine-lysinuria MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222400 -MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch OMIM:222400 diaphragmatic hernia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dih2 -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 +MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 +MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch OMIM:222448 donnai-barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thes1 MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857276 -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation +MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011999 +MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012750 -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dd -MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dd MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dysplasia, broad bone-platyspondylic variant -MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtd -MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diastrophic dysplasia -MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 +MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia +MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysinuric protein intolerance -MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222700 MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268647 MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222730 -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dcbxa MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857253 -MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpysd -MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dph deficiency -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpys deficiency -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857242 +MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 +MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dph deficiency MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcdp2 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglycerate mutase deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857242 MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diphosphoglycerate mutase deficiency of erythrocyte MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bisphosphoglycerate mutase deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpgm deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglycerate mutase deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpgm deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222800 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpgm deficiency -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose-isomaltose malabsorption, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym si deficiency -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose intolerance, congenital -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sucrase-isomaltase deficiency, congenital -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrase-isomaltase deficiency, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066387 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283620 -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase deficiency, congenital -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose intolerance, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sucrase-isomaltase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrase-isomaltase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose-isomaltose malabsorption, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223000 MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alactasia, congenital -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223330 +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase deficiency, congenital +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857227 +MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223330 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch OMIM:223340 dk phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia, thrombocytopenia, encephalocele, urogenital malformations MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857226 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223370 +MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 +MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223370 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 -MONDO:0009126 duodenal atresia skos:closeMatch NCIT:C78260 Duodenal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duodenal stenosis MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 +MONDO:0009126 duodenal atresia skos:closeMatch NCIT:C78260 Duodenal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duodenal stenosis MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:closeMatch OMIM:223540 dwarfism, mental retardation, and eye abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mollica syndrome -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265286 -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch OMIM:223800 dyggve-melchior-clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmc -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223900 -MONDO:0009131 Riley-Day syndrome skos:closeMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysautonomia, familial -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013364 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysequilibrium syndrome +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 +MONDO:0009131 Riley-Day syndrome skos:closeMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysautonomia, familial MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch OMIM:125660 DES semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label des -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch OMIM:125660 DES semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym des -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 2 semapv:RegularExpressionReplacement -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdan2 +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary erythroblastic multinuclearity with positive acidified-serum test MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch OMIM:224120 anemia, congenital dyserythropoietic, iia ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdan1a -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224230 +MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement +MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224230 MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224300 MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432262 -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432209 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224400 +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432209 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddrd -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224410 MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia, silverman-handmaker type -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddsh -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224410 MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt2 type MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224500 +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, absent patellae, micrognathia syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear, patella, short stature syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors1 MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224690 -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013481 MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224700 +MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013481 MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schopf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eccrine tumors with ectodermal dysplasia MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schopf-schulz-passarge syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224750 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eccrine tumors with ectodermal dysplasia -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schopf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia and neurosensory deafness MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia and neurosensory deafness -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd10b -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857053 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857053 MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225050 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clped1 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clped1 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225100 -MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225200 MONDO:0009153 ectopia lentis et pupillae skos:closeMatch OMIM:225200 ectopia lentis et pupillae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis with ectopia of pupil -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 +MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225200 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 -MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome +MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 +MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome -MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eems +MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225280 MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225290 MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857040 +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, autosomal recessive MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225300 -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, autosomal recessive +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fn abnormality MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cveds -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edscv -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds7c -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsderms -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:604831 EVC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label evc -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:604831 EVC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evc -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evc -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225500 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis van creveld syndrome MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:closeMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyon syndrome -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225750 +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225750 +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicardi-goutieres syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags1 +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856974 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225753 -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225755 -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856973 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856973 +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225755 MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071718 -MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome -MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvhh +MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226000 MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014663 MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014117 -MONDO:0009169 endocardial fibroelastosis skos:closeMatch OMIM:226000 endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym efe -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency +MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014663 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterokinase deficiency -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268416 +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226200 -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chaple -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268416 +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226300 +MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226350 MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264005 -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 -MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermodysplasia verruciformis MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermodysplasia verruciformis +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014522 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052339 -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226400 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, late-onset localized junctional, with mental retardation +MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermodysplasia verruciformis MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, late-onset localized junctional, with mental retardation +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, late-onset localized junctional, with mental retardation MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856969 MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226440 -MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa progressiva, recessive MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa with congenital deafness -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica inversa, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive, localisata variant -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdeb -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive +MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa progressiva, recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive, localisata variant MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, generalized severe, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica inversa, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa inversa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa inversa -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, severe nonlethal -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, generalized atrophic benign MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, localisata variant -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226670 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, severe nonlethal +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym md-ebs MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931072 +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226670 MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz type MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226700 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis with pyloric atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eb-pa-acc MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with gastrointestinal atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eb-pa-acc MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856934 MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226730 -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, dementia, and amelogenesis imperfecta +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kohlschutter-tonz syndrome MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy and yellow teeth -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter syndrome MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226750 +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, dementia, and amelogenesis imperfecta MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406740 +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter syndrome MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter-tonz syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktzs -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226810 -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy with bilateral occipital calcifications MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy with bilateral occipital calcifications +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy with bilateral occipital calcifications +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226810 +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy-telangiectasia MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226850 -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy-telangiectasia -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with bilayered patellae -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, autosomal recessive +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with bilayered patellae +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with clubfoot -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:605718 MED4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym med4 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:605718 MED4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label med4 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 4 semapv:RegularExpressionReplacement +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with clubfoot MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062600 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796021 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226960 -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch OMIM:226960 lowry-wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lws MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432217 -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226980 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 MONDO:0009194 immunodeficiency 32B skos:closeMatch OMIM:226990 immunodeficiency 32b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus, susceptibility to chronic infection by +MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227010 -MONDO:0009196 ermine phenotype skos:closeMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym black locks with albinism and deafness syndrome -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroblastopenia, transient -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tec -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 +MONDO:0009196 ermine phenotype skos:closeMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym black locks with albinism and deafness syndrome +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238478 MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroblastopenia, transient +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tec MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227090 -MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, lethal congenital +MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, lethal congenital +MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, lethal congenital MONDO:0009199 ethanolaminosis skos:closeMatch OMIM:227150 ethanolaminosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethanolamine kinase deficiency +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyebrows, duplication of, with stretchable skin and syndactyly +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eyebrows, duplication of, with stretchable skin and syndactyly MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227210 -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eyebrows, duplication of, with stretchable skin and syndactyly -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyebrows, duplication of, with stretchable skin and syndactyly MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931219 MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227255 MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism with multiple malformations MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism with multiple malformations +MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial ectodermal dysplasia MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial ectodermal dysplasia +MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciocardiomelic dysplasia, lethal +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856891 MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227270 -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciocardiomelic dysplasia, lethal -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795936 -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f5f8d1 -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 +MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 +MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227310 MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227330 MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciodigitogenital syndrome, autosomal recessive MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciodigitogenital syndrome, autosomal recessive -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labile factor deficiency -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym owren parahemophilia +MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227330 +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym owren parahemophilia +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labile factor deficiency MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 +MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048930 MONDO:0009210 congenital factor V deficiency skos:closeMatch NCIT:C131738 Factor V Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor v deficiency -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 -MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009211 congenital factor VII deficiency skos:closeMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor vii deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016079 +MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency +MONDO:0009211 congenital factor VII deficiency skos:closeMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor vii deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 +MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009212 congenital factor X deficiency skos:closeMatch NCIT:C131632 Factor X Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor x deficiency MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009212 congenital factor X deficiency skos:closeMatch NCIT:C131632 Factor X Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor x deficiency MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f10 deficiency -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 -MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch OMIM:613899 FANCC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancc -MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch OMIM:613899 FANCC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancc +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facc MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group c -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch NCIT:C125704 Fanconi Anemia, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 -MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch OMIM:613984 FANCD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancd2 -MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch OMIM:613984 FANCD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancd2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad2 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 -MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch OMIM:607139 FANCA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanca -MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch OMIM:607139 FANCA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fanca -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, estren-dameshek variant -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi anemia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi pancytopenia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi anemia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group a +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, estren-dameshek variant MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-phlorizin diabetes MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with amino aciduria and glucosuria MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch NCIT:C168998 Glycogen Storage Disease Type XI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type xi semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with fanconi nephropathy MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228000 +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ac deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268255 +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-laurylsphingosine deacylase deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-laurylsphingosine deacylase deficiency -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ac deficiency +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228000 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramidase deficiency -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frbrl MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228020 +MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatosis of liver MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty metamorphosis of viscera -MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatosis of liver -MONDO:0009221 femur-fibula-ulna complex skos:exactMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pffd MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch OMIM:228200 femur-fibula-ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffu syndrome -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068448 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068448 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228200 +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch OMIM:228200 femur-fibula-ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffu syndrome MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856789 MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228250 MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femur, unilateral bifid, with monodactylous ectrodactyly MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label femur, unilateral bifid, with monodactylous ectrodactyly MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228300 -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh23 -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal iodine deficiency disorder MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal iodine deficiency disorder +MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal iodine deficiency disorder +MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic cretinism MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 MONDO:0009224 fetal iodine syndrome skos:closeMatch NCIT:C98921 Endemic Cretinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endemic cretinism -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic cretinism -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fidd MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 -MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch OMIM:228520 fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fbcg1 -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imf1 -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibromatosis, juvenile MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, congenital generalized +MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibromatosis, juvenile MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228550 -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228560 +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with distinctive facies MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with distinctive facies +MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch OMIM:228600 hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis, systemic -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch OMIM:228600 hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfs MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 +MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mediastinal fibrosis, familial MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retroperitoneal fibrosis, familial -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228900 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856738 -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia-complex brachydactyly syndrome MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228930 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 +MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228940 MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856727 -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibuloulnar aplasia or hypoplasia with renal abnormalities MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibuloulnar aplasia or hypoplasia with renal abnormalities -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmwk deficiency -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228960 -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams trait +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibuloulnar aplasia or hypoplasia with renal abnormalities MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmwk deficiency MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight and low molecular weight -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flaujeac trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228960 MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, total -MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frfb +MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 +MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228980 MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina, familial benign MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina, familial benign -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228980 -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228990 -MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina of kandori MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina of kandori +MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 +MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina of kandori +MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feh, oral MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal epithelial hyperplasia, oral MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal epithelial hyperplasia, oral -MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feh, oral -MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folate malabsorption, hereditary MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342705 -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption +MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folate malabsorption, hereditary MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 +MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folate malabsorption, hereditary -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh24 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicle-stimulating hormone deficiency, isolated -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229070 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch NCIT:C121142 Isolated Follicle Stimulating Hormone Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym formiminotransferase deficiency MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym figlu-uria +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym formiminotransferase deficiency +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268609 +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 MONDO:0009241 fountain syndrome skos:closeMatch OMIM:229120 fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 -MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcs1 -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009243 Fraser-like syndrome skos:closeMatch OMIM:229230 fraser-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused eyelids, airway anomalies, ovarian cysts, and digital anomalies -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffnd MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontofacionasal dysostosis +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffnd MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931720 MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose intolerance, hereditary MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose-1-phosphate aldolase deficiency MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldob deficiency +MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fructose intolerance, hereditary +MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase b deficiency MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019878 MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229600 -MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fructose intolerance, hereditary -MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase b deficiency MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016756 MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229700 -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch OMIM:229700 fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fbp1d -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 MONDO:0009252 essential fructosuria skos:closeMatch OMIM:229800 fructosuria, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fructokinase deficiency MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229800 -MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies -MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frns -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220730 -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229850 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016788 +MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229850 +MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220730 +MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies +MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230000 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 +MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016788 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230000 -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement -MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency -MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency +MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement -MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency -MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, duarte variant +MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactose-1-phosphate uridylyltransferase deficiency +MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, duarte variant +MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, classic MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia -MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, classic +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230450 +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gangliosidosis, generalized gm1, infantile form MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gangliosidosis, generalized gm1, infantile form +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 MONDO:0009263 GAPO syndrome skos:closeMatch OMIM:230740 gapo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, alopecia, pseudoanodontia, and optic atrophy +MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230750 -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 MONDO:0009264 gastroschisis skos:closeMatch OMIM:230750 gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal wall defects MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265706 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 +MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 +MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 MONDO:0009265 Gaucher disease type I skos:closeMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 +MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 MONDO:0009266 Gaucher disease type II skos:closeMatch OMIM:230900 gaucher disease, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009267 Gaucher disease type III skos:closeMatch OMIM:231000 gaucher disease, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 +MONDO:0009267 Gaucher disease type III skos:closeMatch OMIM:231000 gaucher disease, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856476 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gphysd1 MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231050 +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856466 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopalatocardiac syndrome MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym go +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231080 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887495 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231080 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydm1 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghdd MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia +MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia +MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemochromatosis, neonatal -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nh -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhc +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, neonatal MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alloimmune hepatitis, congenital +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhc +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nh MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal hepatitis, formerly -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, neonatal -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 MONDO:0009275 neonatal hemochromatosis skos:closeMatch NCIT:C84446 Neonatal Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hepatitis +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231100 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein ib, platelet, deficiency of -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand factor receptor deficiency +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein ib deficiency -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand factor receptor deficiency +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein ib, platelet, deficiency of MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005129 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, congenital +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc3a -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:602429 glaucoma 1, open angle, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:603383 glaucoma 1, open angle, f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:602429 glaucoma 1, open angle, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, congenital +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addisonian-achalasia syndrome +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-addisonianism +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-adrenal insufficiency neurologic disorder -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:605378 AAAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aaas -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:605378 AAAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aaas -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aaas -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achalasia-alacrima syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addisonian-achalasia syndrome +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenalism with achalasia -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-resistant adrenal insufficiency, achalasia and alacrima -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 MONDO:0009279 triple-A syndrome skos:closeMatch NCIT:C35710 Triple A Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-addisonianism +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-resistant adrenal insufficiency, achalasia and alacrima +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achalasia-alacrima syndrome MONDO:0009280 monosodium glutamate sensitivity skos:closeMatch OMIM:231630 monosodium glutamate sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chinese restaurant syndrome -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfdh deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethylmalonic-adipicaciduria MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfb deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfb deficiency -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfdh deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethylmalonic-adipicaciduria -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfa deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:603584 MADD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label madd -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:603584 MADD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madd +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfa deficiency +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga3 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342873 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gssde MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856399 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231950 MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltranspeptidase deficiency -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtg deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltransferase deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggt deficiency -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231950 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtg deficiency MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal form of glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd1a +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal form of glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 -MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ic -MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd1c -MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd1c +MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaa deficiency -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1,4-glucosidase deficiency MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomegalia glycogenica diffusa -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1,4-glucosidase deficiency MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, generalized, cardiac form -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaa deficiency +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd2 -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd3 -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen debrancher deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agl deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiid semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agl deficiency +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053249 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, adult, with isolated myopathy -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, congenital -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd4 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with deposition of abnormal glycogen -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen branching enzyme deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brancher deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, childhood -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbe1 deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with deposition of abnormal glycogen +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brancher deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen branching enzyme deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygm deficiency -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd5 -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbe1 deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, adult, with isolated myopathy +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, childhood +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, congenital +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232600 MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018462 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd6 -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase deficiency glycogen-storage disorder of liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygm deficiency +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232600 MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017925 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase deficiency glycogen-storage disorder of liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfkm deficiency +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053241 -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle phosphofructokinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfkm deficiency -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd7 -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosuria, renal -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017980 MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3245525 +MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017980 +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal glucosuria +MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glys1 +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosuria, renal MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal glucosuria -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glys -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal glucosuria MONDO:0009298 GOMBO syndrome skos:closeMatch OMIM:233270 gombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949595 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949595 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis -MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts1 +MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, type 20 type, with deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233400 MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis with sensorineural deafness -MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, type 20 type, with deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, dhh-related +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, dhh-related MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, dhh-related -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy7 MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, xy, male-limited -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, dhh-related -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856272 MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233430 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403529 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018620 -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233450 MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C34649 Goodpasture Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goodpasture syndrome -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchidg +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233450 MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673536 -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined cellular and humoral immune defects with granulomas -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd, autosomal recessive cytochrome b-negative -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd due to deficiency of the alpha subunit of cytochrome b -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyba deficiency +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined cellular and humoral immune defects with granulomas MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233690 +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyba deficiency +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd due to deficiency of the alpha subunit of cytochrome b +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd, autosomal recessive cytochrome b-negative MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233700 MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233710 MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of the macula MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of retinal pigment epithelium -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth factors, combined defect of MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth factors, combined defect of MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin, insulin-like growth factor i, and epidermal growth factor deficiency -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth factors, combined defect of MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233805 MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931551 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, small and puffy hands and feet, and eczema +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, small and puffy hands and feet, and eczema -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015526 -MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, small and puffy hands and feet, and eczema +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f12 deficiency MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haf deficiency MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 -MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 +MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015526 +MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch OMIM:234100 hallermann-streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hss +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018523 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkan neuroaxonal dystrophy, juvenile-onset -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hall-riggs mental retardation syndrome MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hall-riggs mental retardation syndrome +MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 +MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hallux varus and preaxial polysyndactyly MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux varus and preaxial polysyndactyly -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856197 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019165 -MONDO:0009324 Hartnup disease skos:closeMatch OMIM:234500 hartnup disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hnd -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, congenital -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340548 +MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, familial pulmonary capillary MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340548 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, familial pulmonary capillary -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvod2 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234820 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihypertrophy, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia, isolated -MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemi-3 syndrome MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemihyperplasia, isolated -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia +MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemi-3 syndrome MONDO:0009331 isolated hemihyperplasia skos:exactMatch NCIT:C88541 Hemihypertrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemihypertrophy -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ih -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235255 MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian derivatives-lymphangiectasia-polydactyly syndrome +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235370 -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus1 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, typical MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235500 -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hklls1 +MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic dysplasia, generalized MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235510 -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vodi -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856128 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856127 -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235700 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to hexokinase deficiency MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to hexokinase deficiency -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder-mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235700 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder-mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mows -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235740 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder-deafness-polydactyly syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235740 +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235760 -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220992 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235800 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 +MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 -MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, familial lipochrome MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, familial lipochrome -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, familial lipochrome MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300221 -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 +MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoma, hodgkin, classic +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chl +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoma, hodgkin, classic MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chl -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym demyer sequence +MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, familial alobar +MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinencephaly -MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, familial alobar -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 -MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495554 +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268632 +MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495554 MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbs deficiency MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria with or without response to pyridoxine MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhomocysteinemia, thrombotic, cbs-related -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071093 +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236250 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate reductase deficiency -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856057 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria-megaloblastic anemia, cble complementation type -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch OMIM:236270 homocystinuria-megaloblastic anemia, cble complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmae -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial/multiple synostosis syndrome -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236400 -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroosteonephosis syndrome MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cond -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch NCIT:C106182 March semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label march -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym march MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236500 +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyc1 -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly +MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephaly +MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856052 -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with associated malformations +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with associated malformations -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856051 -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236660 +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with associated malformations MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, tall stature, joint laxity, and kyphoscoliosis MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, tall stature, joint laxity, and kyphoscoliosis -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod-md syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, agyria, and retinal dysplasia +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856051 +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236660 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga1 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, agyria, and retinal dysplasia MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod-md syndrome MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236680 -MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch OMIM:236680 hydrolethalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hls1 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkks -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052312 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmcs -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:604896 MKKS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkks -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:604896 MKKS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mkks -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, partial, with urinary abnormalities -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236730 -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ochoa syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ufs1 -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nihf -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236730 +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, partial, with urinary abnormalities MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455988 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrops fetalis, nonimmune MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops fetalis, nonimmune -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nihf MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855995 -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888081 MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:236792 l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l2hga +MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888081 +MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855995 +MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236795 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268474 -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, partial MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxykynureninuria +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxylysinuria -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxylysinuria +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, partial +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236900 -MONDO:0009374 hydroxyprolinemia skos:closeMatch OMIM:237000 hydroxyprolinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxyprolinemia +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxylysinuria +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxylysinuria MONDO:0009374 hydroxyprolinemia skos:closeMatch OMIM:237000 hydroxyprolinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxy-l-proline oxidase deficiency -MONDO:0009374 hydroxyprolinemia skos:closeMatch OMIM:237000 hydroxyprolinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxyprolinemia +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cps type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237300 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cps type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthetase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nagsd -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237400 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268630 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220991 +MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237400 +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, rotor type +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220991 MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 -MONDO:0009379 Rotor syndrome skos:closeMatch OMIM:237450 hyperbilirubinemia, rotor iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hblrr -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022350 +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym djs -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, transient familial neonatal -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hblrtfn -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast milk jaundice -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270210 MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperbilirubinemia, transient familial neonatal +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, transient familial neonatal MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237900 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone resistance, female +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270210 +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone resistance, female +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia with male pseudohermaphroditism +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym compulsive reading MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious reading +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylomicronemia, familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipoproteinemia, type i MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, essential familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipoproteinemia, type i +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine:alpha-ketoglutarate reductase deficiency +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-lysine:nad-oxido-reductase deficiency +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238710 MONDO:0009390 hyperlysinuria with hyperammonemia skos:closeMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlysinemia, periodic -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhhs MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdb5 -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasemia, chronic congenital idiopathic +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasia, familial idiopathic MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoectasia, familial -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239000 +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasemia, chronic congenital idiopathic +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal recessive MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vbch -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe primary MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperparathyroidism, neonatal severe MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsph +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe primary MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832615 MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239200 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch OMIM:239500 hyperprolinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyrpro1 MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239500 -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch OMIM:239500 hyperprolinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpi MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058513 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpii -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058514 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058512 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058514 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931835 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyrpro2 -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, hypospadias, and polysyndactyly syndrome -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis with genitourinary anomalies -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym affn dysostosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239800 +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym affn dysostosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis with genitourinary anomalies +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, hypospadias, and polysyndactyly syndrome MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220742 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239800 MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931676 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855902 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855902 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch OMIM:239850 cantu syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:300528 NUDT11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aps1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240300 MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune polyendocrinopathy type 1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenocorticism with hypoparathyroidism and superficial moniliasis -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoascorbemia -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240300 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase pseudogene -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase, nonfunctional +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gulo, nonfunctional -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to taci defect +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase, nonfunctional +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoascorbemia MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia due to taci deficiency -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid2 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to taci defect +MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen synthase deficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd0a +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240600 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855861 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen synthase deficiency +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch OMIM:240800 hypoglycemia, leucine-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leucine-sensitive hypoglycemia of infancy -MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch OMIM:240800 hypoglycemia, leucine-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lih -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hihghh MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoinsulinemic hypoglycemia with hemihypertrophy +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism-cataract syndrome +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism-cataract syndrome +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts and testicular failure MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240950 MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855859 -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts and testicular failure -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism-cataract syndrome -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism-cataract syndrome -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342286 +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism and partial alopecia -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism and partial alopecia +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342286 +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241090 +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism and partial alopecia +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism and partial alopecia MONDO:0009421 hypogonadism, male skos:closeMatch OMIM:241100 hypogonadism, male semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism and testicular atrophy MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:closeMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sweat gland hypoplasia -MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gullner syndrome MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemia, familial +MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gullner syndrome +MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 MONDO:0009424 Bartter disease type 2 skos:closeMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 2, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 +MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism with short stature, mental retardation, and seizures +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241410 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855840 -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism with short stature, mental retardation, and seizures -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal recessive MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr1 +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal recessive MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric rickets -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241530 -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets with hypercalciuria, hereditary MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets with hypercalciuria, hereditary +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets with hypercalciuria, hereditary +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241530 +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241550 -MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614435 -MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlhs1 +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd43 -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-mental retardation syndrome MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias-mental retardation syndrome MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241760 @@ -11892,2596 +10733,2343 @@ MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-L MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch OMIM:241850 bamforth-lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242050 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, nonbullous congenital, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kid syndrome, autosomal recessive +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal recessive +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosiform erythroderma, corneal involvement, and deafness -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmons syndrome -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kid syndrome, autosomal recessive +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242150 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1, with bathing suit distribution semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desquamation of newborn -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion fetus +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1, with bathing suit distribution semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019163 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0239849 -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'harlequin fetus' -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with alopecia, eclabium, ectropion, and mental retardation MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis with alopecia, eclabium, ectropion, and mental retardation +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with alopecia, eclabium, ectropion, and mental retardation MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242510 MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855788 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275088 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242520 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, hepatosplenomegaly, and cerebellar degeneration MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, hepatosplenomegaly, and cerebellar degeneration -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, mental retardation, dwarfism, and renal impairment -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855787 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242530 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, mental retardation, dwarfism, and renal impairment +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268654 -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 +MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268654 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 +MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to defective radial spokes MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242670 -MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to excessively long cilia MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242680 +MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to excessively long cilia MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymic aplasia -MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum -MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vicis +MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855772 MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242840 -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency syndrome, variable +MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym centromeric instability, immunodeficiency syndrome MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency, variable, with centromeric instability of chromosomes type 1, type 9, and type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icf1 +MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency syndrome, variable MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242860 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877024 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siod MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cip -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymbolia for pain -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, channelopathy-associated -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal recessive -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch NCIT:C125386 Indifference to Pain, Congenital, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymbolia for pain +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insensitivity to pain, congenital MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 -MONDO:0009461 spermatogenic failure 5 skos:closeMatch OMIM:243060 spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf5 -MONDO:0009461 spermatogenic failure 5 skos:closeMatch OMIM:243060 spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infertility associated with multitailed spermatozoa and excessive dna +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch NCIT:C125386 Indifference to Pain, Congenital, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal recessive MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403812 +MONDO:0009461 spermatogenic failure 5 skos:closeMatch OMIM:243060 spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infertility associated with multitailed spermatozoa and excessive dna +MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:closeMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1, defective t-cell response to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028210 -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 -MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176622 Gastrointestinal Defects And Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intestinal pseudoobstruction with patent ductus arteriosus and natal teeth -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028210 +MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243185 -MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intestinal pseudoobstruction with patent ductus arteriosus and natal teeth MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial hypertension, idiopathic -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243200 +MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033845 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym summerskill syndrome +MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243200 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym summerskill syndrome MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 1 semapv:RegularExpressionReplacement -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, mental retardation, epilepsy, and characteristic facies -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brws1 +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7p22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculofacial lymphatic syndrome +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, mental retardation, epilepsy, and characteristic facies +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris coloboma with ptosis, hypertelorism, and mental retardation -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7p22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243320 MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, slow -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isoniazid inactivation, slow -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fast acetylator phenotype -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, fast +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isoniazid inactivation, slow MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slow acetylator phenotype +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fast acetylator phenotype MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243440 -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isotretinoin embryopathy-like syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome +MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isotretinoin embryopathy-like syndrome +MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency -MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iva -MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivd deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivd deficiency MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 MONDO:0009476 atresia of small intestine skos:closeMatch OMIM:243600 jejunal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apple peel small bowel syndrome -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C101027 Jejunal Atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal atresia -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 MONDO:0009477 Stromme syndrome skos:closeMatch OMIM:243605 stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 31, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009477 Stromme syndrome skos:closeMatch OMIM:243605 stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stroms +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal recessive MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hies, autosomal recessive MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch NCIT:C126343 DOCK8 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dock8 deficiency -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243800 -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome -MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jbs -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855675 +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculohepatorenal syndrome +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome with bilateral chorioretinal coloboma -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, chorioretinal, with cerebellar vermis aplasia +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855675 MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, chorioretinal, with cerebellar vermis aplasia +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh3 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch OMIM:244300 kapur-toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long columella with cleft lip/palate and eye, heart, and intestinal anomalies MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796005 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kartagener syndrome +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch OMIM:244300 kapur-toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long columella with cleft lip/palate and eye, heart, and intestinal anomalies +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polynesian bronchiectasis MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia, bronchiectasis, and sinusitis +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kartagener syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcd -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcd -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:212790 premature centromere division semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcd MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244400 -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcd -MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kartagener syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polynesian bronchiectasis -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaufman oculocerebrofacial syndrome -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855663 +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs1 -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855648 -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaufman oculocerebrofacial syndrome MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs -MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpc with associated malformations +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855648 +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoconus posticus circumscriptus -MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpc MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus posticus circumscriptus -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch OMIM:244850 palmoplantar keratoderma, norrbotten recessive iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppknr +MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpc with associated malformations MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244850 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:exactMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pals +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia and onychogryposis -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hms MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochin jewish disorder MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochin jewish disorder +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:acetoacetate transferase deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa-transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-oxoacid-coa transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ketoacidosis due to scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa-transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:acetoacetate transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scotd -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinyl-coa:3-oxoacid-coa transferase deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinyl-coa:3-oxoacid-coa transferase deficiency +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richards-rundle syndrome +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-mental retardation syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrns +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richards-rundle syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-intellectual disability syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-mental retardation syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis, brachytelephalangism, and calcification of cartilages -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keutel syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855607 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktls -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 +MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keutel syndrome +MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome +MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis, brachytelephalangism, and calcification of cartilages +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855605 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kniest-like dysplasia, lethal MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245190 -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kniest-like dysplasia, lethal -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal -MONDO:0009499 Krabbe disease skos:closeMatch OMIM:245200 krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosylceramide beta-galactosidase deficiency -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855605 MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023492 MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245200 +MONDO:0009499 Krabbe disease skos:closeMatch OMIM:245200 krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosylceramide beta-galactosidase deficiency +MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245300 -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch OMIM:245340 erythrocyte lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactate transporter defect, myopathy due to MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245340 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855577 -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdhdd +MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch OMIM:245340 erythrocyte lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactate transporter defect, myopathy due to MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855565 MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 +MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdhxd MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, fatal infantile, formerly -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps9 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile lactic acidosis with methylmalonic aciduria MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency -MONDO:0009507 Lambert syndrome skos:closeMatch OMIM:245550 lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 +MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 +MONDO:0009507 Lambert syndrome skos:closeMatch OMIM:245550 lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245550 -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 MONDO:0009508 Lambotte syndrome skos:closeMatch OMIM:245552 lambotte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, holoprosencephaly, and intrauterine growth retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NCIT:C168598 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, focal, with speech disorder and with or without mental retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:117100 centralopathic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without mental retardation MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous spike and waves during slow-wave sleep syndrome -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, acquired, with epilepsy -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, acquired, with epilepsy MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052075 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NCIT:C168598 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, focal, with speech disorder and with or without mental retardation +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without mental retardation +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:117100 centralopathic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen syndrome, autosomal recessive, formerly -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jdscd -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245600 -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245650 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855535 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 +MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245660 -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngoonychocutaneous syndrome MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328355 +MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngoonychocutaneous syndrome +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome MONDO:0009514 Laurence-Moon syndrome skos:closeMatch NCIT:C34760 Laurence-Moon Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:exactMatch OMIM:603543 limb-mammary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lms MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023138 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 -MONDO:0009514 Laurence-Moon syndrome skos:exactMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lms -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lnms MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lms -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency MONDO:0009515 Norum disease skos:closeMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcat deficiency +MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lcat deficiency -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leg, absence deformity of, with congenital cataract -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leg, absence deformity of, with congenital cataract -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855523 +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leg, absence deformity of, with congenital cataract +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leg, absence deformity of, with congenital cataract MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265344 MONDO:0009517 Donohue syndrome skos:closeMatch OMIM:246200 donohue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 -MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lprs3 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246300 -MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-s disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis x, acute disseminated -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 +MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-s disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hmg-coa lyase deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533587 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268601 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcld -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hmg-coa lyase deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246500 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855504 -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855502 +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246500 +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246550 -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb defects, distal transverse, with mental retardation and spasticity +MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855502 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb defects, distal transverse, with mental retardation and spasticity -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796001 +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb defects, distal transverse, with mental retardation and spasticity MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246555 +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796001 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb deficiencies, distal, with micrognathia -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch NCIT:C75121 Split-Hand/Foot Malformation Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency -MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and hl deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and htgl deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246650 +MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and hl deficiency MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795956 MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246700 +MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795956 +MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 MONDO:0009528 chylomicron retention disease skos:closeMatch OMIM:246700 chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid transport defect of intestine -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoamide dehydrogenase deficiency, lactic acidosis due to -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym e3 deficiency -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dldd +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoamide dehydrogenase deficiency, lactic acidosis due to MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 +MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 +MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023795 MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid proteinosis of urbach and wiethe -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae -MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe -MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdls -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265219 +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247200 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miller-dieker syndrome chromosome region +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855477 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism-lymphedema syndrome MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247610 -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch OMIM:247610 lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264511 MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062997 -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch NCIT:C12220 Lip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lip MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphomatous all MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lall -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247640 -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemia, acute lymphoblastic MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukemia, acute lymphoblastic +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemia, acute lymphoblastic +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247640 MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247650 -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247990 MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796024 +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247990 MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248000 -MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:closeMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgcph -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248110 -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855467 MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrosomia with microphthalmia, lethal MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrosomia with microphthalmia, lethal +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855467 +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248110 MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, with ocular involvement -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homg5 +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular coloboma, bilateral, with hypercalciuria MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248190 -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular coloboma, bilateral, with hypercalciuria -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, juvenile -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd1 -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248200 -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, isolated renal -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248250 MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, isolated renal MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, childhood, self-limiting -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248300 +MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de meleda -MONDO:0009552 mal de Meleda skos:closeMatch OMIM:248300 mal lange meleda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdm -MONDO:0009554 3MC syndrome 3 skos:closeMatch OMIM:248340 3mc syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3mc3 MONDO:0009554 3MC syndrome 3 skos:closeMatch OMIM:248340 3mc syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malpuech facial clefting syndrome, formerly MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248340 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342793 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248360 +MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniomandibular dermatodysostosis -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mada -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcs3 -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, autosomal recessive -MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with mental retardation +MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 +MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with mental retardation -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label manitoba oculotrichoanal syndrome -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mota +MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with mental retardation MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome -MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, alpha b, lysosomal -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label manitoba oculotrichoanal syndrome +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, alpha b, lysosomal -MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mansa -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024748 -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, alpha b, lysosomal MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-mannosidase b deficiency MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, beta a, lysosomal -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mansb -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, beta a, lysosomal -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal beta-mannosidase deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 +MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal beta-mannosidase deficiency +MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, beta a, lysosomal +MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, beta a, lysosomal MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248510 +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keto acid decarboxylase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, classic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermediate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermittent semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, thiamine-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keto acid decarboxylase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, thiamine-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermittent semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024776 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermediate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker syndrome -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mwks -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248700 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker syndrome MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248760 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855348 +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248760 MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid habitus with microcephaly and glomerulonephritis MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus with microcephaly and glomerulonephritis -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid mental retardation syndrome, autosomal MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid mental retardation syndrome, autosomal -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248770 +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid mental retardation syndrome, autosomal MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855347 +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248770 MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marinesco-sjögren syndrome MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248800 MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024814 MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248900 MONDO:0009568 mast syndrome skos:closeMatch OMIM:248900 mast syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 21, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous mastocytosis, conductive hearing loss and microtia MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248910 MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous mastocytosis, conductive hearing loss and microtia -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 +MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous mastocytosis, conductive hearing loss and microtia +MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248950 -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica +MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mes MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gruber syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:604896 MKKS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks -MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch OMIM:609883 MKS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mks1 -MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch OMIM:609883 MKS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mks1 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249100 -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, recurrent MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, familial paroxysmal +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249100 MONDO:0009574 megalencephaly with dysmyelination skos:closeMatch OMIM:249240 megalencephaly with dysmyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly with diffuse white matter hypodensity +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine-responsive anemia syndrome MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 1 (megaloblastic anemia, diabetes mellitus, and deafness type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine-responsive anemia syndrome -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 -MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megalocornea -MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalocornea -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea-mental retardation syndrome +MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea +MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalocornea MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuhauser syndrome MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea-mental retardation syndrome +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea-mental retardation syndrome MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249310 MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796086 -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ncms -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromelanosis -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis, neurocutaneous +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 +MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanosis, neurocutaneous -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis, neurocutaneous +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromelanosis MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome, autosomal recessive, formerly MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fths -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249420 MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855305 -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome +MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt1 MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt1 -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249599 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855303 +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249599 +MONDO:0009582 Mietens syndrome skos:closeMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mietens-weber syndrome MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265249 MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249600 -MONDO:0009582 Mietens syndrome skos:closeMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mietens-weber syndrome +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, congenital heart disorder, blepharophimosis, blepharoptosis, and hypoplastic teeth semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796094 -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, congenital heart disorder, blepharophimosis, blepharoptosis, and hypoplastic teeth semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249620 MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796080 MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249630 -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdu -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disulfiduria, mixed -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mercaptolactate-cysteine disulfiduria -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796055 -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdu MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-mercaptolactate cysteine disulfiduria MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249650 +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796055 +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disulfiduria, mixed +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mercaptolactate-cysteine disulfiduria MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:closeMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mexican cardiomelic dysplasia -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249700 +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lmd +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis, homozygous MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic limb shortening and bowing -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic limb shortening and bowing +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249900 -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin b deficiency +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukoencephalopathy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, juvenile MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, adult -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroside sulfatase deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsa deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, juvenile MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoarylsulfatase a deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, late infantile -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroside sulfatase deficiency MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, late infantile +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smds -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, congenital lethal -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855217 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250230 +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855217 +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, mckusick type MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069596 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, mckusick type MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch OMIM:250250 cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chh +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069596 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch OMIM:250400 metaphyseal dysplasia, spahr iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdst +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432225 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without skeletal anomalies -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with retinitis pigmentosa -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpska MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa with or without skeletal anomalies +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with retinitis pigmentosa +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-short stature-retinitis pigmentosa syndrome MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250410 -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysostosis, mental retardation, and conductive deafness -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855175 +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysostosis, mental retardation, and conductive deafness MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia variant, skeletal manifestations only MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250460 -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdwh +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methacrylic acid toxicity MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-hydroxyisobutyryl coa deacylase deficiency MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250620 -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hibchd -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-hydroxyisobutyryl coa deacylase deficiency -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methacrylic acid toxicity -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpnh-methemoglobin reductase deficiency -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadph-dependent methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methemoglobin reductase deficiency -MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250700 -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metag -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5, formerly +MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadph-dependent methemoglobin reductase deficiency +MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpnh-methemoglobin reductase deficiency +MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobin reductase deficiency MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated type 17,20-lyase deficiency, pure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia and ambiguous genitalia MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5, formerly MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia and ambiguous genitalia -MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia, congenital, autosomal recessive MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-dependent methemoglobin reductase deficiency MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-cytochrome b5 reductase deficiency +MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia, congenital, autosomal recessive MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250800 -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine adenosyltransferase i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methionine adenosyltransferase i/iii deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine adenosyltransferase i/iii deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-strang disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oasthouse urine disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine synthase deficiency MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmag -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine synthase deficiency -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342728 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342727 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250950 -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-mg-coa-hydratase deficiency -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgca1 +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342728 +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342727 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-mg-coa-hydratase deficiency MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855126 -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574085 MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250951 -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 +MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574085 +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin b12-unresponsive methylmalonic acidemia MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa racemase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria iii, formerly MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonyl-coa epimerase deficiency +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria iii, formerly +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251190 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 +MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251190 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855089 MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc syndrome -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:607117 MCPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mcph1 MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation syndrome -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph1 MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation with microcephaly and mental retardation MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251200 -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:607117 MCPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph1 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cardiomyopathy +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch OMIM:251230 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mimis -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855079 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mimis +MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855079 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251240 -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with chemotactic defect and transient hypogammaglobulinemia +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with chemotactic defect and transient hypogammaglobulinemia -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with cervical spine fusion anomalies +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with cervical spine fusion anomalies -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251250 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with cervical spine fusion anomalies MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251250 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with mental retardation and digital anomalies -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251255 -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelly syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jwds +MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome +MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 +MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251255 +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jawad syndrome +MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbs +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsyndromal microcephaly, autosomal recessive, with normal intelligence MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v2 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, microcephaly, and chromosomal instability -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v1 -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbs +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsyndromal microcephaly, autosomal recessive, with normal intelligence +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v2 +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccrp1 MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251270 -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:closeMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, seizures, spasticity, and brain calcifications -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3489725 -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome +MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome +MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbqd1 -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois dysplasia, kim variant -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251450 +MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome +MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois dysplasia, kim variant +MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251505 -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb4 MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcop -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, autosomal recessive MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcop MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mspka +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251750 -MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar2 -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251850 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068494 +MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251850 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341306 -MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvillus atrophy, congenital -MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 2, with microvillus atrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009635 microvillus inclusion disease skos:exactMatch OMIM:603236 MVD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mvd -MONDO:0009635 microvillus inclusion disease skos:exactMatch OMIM:603236 MVD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mvd +MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital familial protracted diarrhea with enterocyte brush-border abnormalities +MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 2, with microvillus atrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvillus atrophy, congenital +MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency -MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps3 MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251880 -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027710 -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162670 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial cytopathy -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162670 +MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252100 -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group a -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group a -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group b MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group b -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252250 MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 7 myelodysplasia and leukemia syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252270 MONDO:0009647 Morquio syndrome C skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252300 -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854961 -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252320 -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label motor neuropathy, peripheral, with dysautonomia MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor neuropathy, peripheral, with dysautonomia -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252320 +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854961 +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spontaneous occlusion of the circle of willis +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 +MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spontaneous occlusion of the circle of willis MONDO:0009649 moyamoya disease 1 skos:closeMatch NCIT:C84895 Moyamoya Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:607840 GNPTAB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnpta -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, iranian variant form MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, variant form -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854896 -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, iranian variant form +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialolipidosis MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238286 MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252650 -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml4 -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialolipidosis -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfamidase deficiency -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086647 MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfamidase deficiency +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086647 +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naglu deficiency -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086649 +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sanfilippo syndrome c MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglucosamine-6-sulfatase deficiency +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086650 -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086652 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056892 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylgalactosamine-4-sulfatase deficiency MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085132 +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylgalactosamine-4-sulfatase deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253220 -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085132 +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency +MONDO:0009664 mulibrey nanism skos:closeMatch OMIM:253250 mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pericardial constriction and growth failure MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931895 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253250 -MONDO:0009664 mulibrey nanism skos:closeMatch OMIM:253250 mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pericardial constriction and growth failure +MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931895 +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 -MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253260 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071434 MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, juvenile-onset +MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071434 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268581 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, neonatal form MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlcs deficiency -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, early onset MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomgnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga3 MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253290 MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854678 +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma, infantile acute form +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, infantile MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, infantile -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253310 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253320 MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chudley syndrome -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854663 -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152109 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, mild childhood and adolescent form +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NCIT:C85076 Spinal Muscular Atrophy of Childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy of childhood MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, juvenile MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NCIT:C85076 Spinal Muscular Atrophy of Childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy of childhood -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NCIT:C156310 Spinal Muscular Atrophy Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy type 2 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NCIT:C156310 Spinal Muscular Atrophy Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy type 2 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, pelvofemoral +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis, eosinophilic MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253601 MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410173 MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmda MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalin deficiency, secondary -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoglycan, gamma, deficiency of -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmda MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, fukuyama type +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410174 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with infantile cataract and hypogonadism MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931578 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with infantile cataract and hypogonadism -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with infantile cataract and hypogonadism MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850864 +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with infantile cataract and hypogonadism MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich congenital muscular dystrophy -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ucmd1 -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ullrich congenital muscular dystrophy -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ullrich congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270968 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254110 +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mmd1 -MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy -MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mmd1 -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613319 +MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254190 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 -MONDO:0009688 myasthenia gravis skos:closeMatch OMIM:254200 myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mg -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026896 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028417 +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026896 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, familial infantile, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, formerly -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms1a +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms1b -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ib, formerly -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic myopathy, formerly -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic mycosis fungoides +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic myopathy, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ib, formerly MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254400 -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 -MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic mycosis fungoides MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia -MONDO:0009692 primary myelofibrosis skos:closeMatch NCIT:C3248 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C36212 Bone Marrow Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone marrow fibrosis -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 -MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic -MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 +MONDO:0009692 primary myelofibrosis skos:closeMatch NCIT:C3248 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 +MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 -MONDO:0009693 plasma cell myeloma skos:closeMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 +MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic +MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis +MONDO:0009693 plasma cell myeloma skos:closeMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398595 MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254600 -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch OMIM:254600 myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpod -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym petit mal, impulsive +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071082 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608816 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614280 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254770 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611364 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym petit mal, impulsive +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym janz syndrome -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254780 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy of unverricht and lundborg MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm1 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsmflad MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, late-onset +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hml -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with deficiency of succinate dehydrogenase and aconitase MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with lactic acidosis, hereditary -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:605999 CLEC10A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hml -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with lactic acidosis, hereditary MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255160 -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 myopathy, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msmb -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:157145 MSMB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msmb -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:157145 MSMB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label msmb -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 myopathy, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal recessive +MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal recessive +MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal recessive MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255200 -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnm2 MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal recessive -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal recessive -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028655 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546264 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore disorder with external ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with external ophthalmoplegia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850674 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore myopathy multicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore disorder with external ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850674 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, congenital, of lowenthal -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosclerosis, autosomal recessive +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myosclerotic -MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym becker disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosclerosis, autosomal recessive +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, congenital, of lowenthal +MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 +MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, generalized +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym becker disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255700 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia with skeletal abnormalities and mental retardation +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia with skeletal abnormalities and mental retardation MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255710 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia with skeletal abnormalities and mental retardation -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia with skeletal abnormalities and mental retardation +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel-aberfeld syndrome +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burton syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel-aberfeld syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850635 -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255960 +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 +MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255960 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, intracardiac -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial myxoma, familial -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850627 +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, intracardiac MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 -MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keipert syndrome +MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850627 MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850626 -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 +MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keipert syndrome MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 +MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 +MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850626 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850625 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 -MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lss -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:closeMatch OMIM:256000 leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym necrotizing encephalopathy, infantile subacute, of leigh -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062950 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:600909 LSS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lss +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023264 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:600909 LSS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lss +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 +MONDO:0009723 Leigh syndrome skos:closeMatch OMIM:256000 leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym necrotizing encephalopathy, infantile subacute, of leigh MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256020 MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403548 -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jmp syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome +MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 +MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jmp syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy -MONDO:0009727 atelosteogenesis type II skos:closeMatch OMIM:256050 atelosteogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256050 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de la chapelle dysplasia +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850555 +MONDO:0009727 atelosteogenesis type II skos:closeMatch OMIM:256050 atelosteogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850554 -MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nphp1 -MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nph1 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de la chapelle dysplasia +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile +MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 -MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphp1 MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855681 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:604639 NXPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 -MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:604639 NXPH1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nph1 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256120 +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, deafness, and hyperparathyroidism MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy, deafness, and hyperparathyroidism MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256120 +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256200 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850552 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrosis with deafness and urinary tract and digital malformations +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850552 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs1 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:602716 NPHS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nphs1 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, congenital -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:602716 NPHS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs1 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403399 +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, congenital MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256370 -MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch OMIM:256370 nephrotic syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs4 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf1 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglycemia, hyperinsulinemic, of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial, with pancreatic nesidioblastosis MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 -MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym netherton disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym comel-netherton syndrome MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neth +MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym netherton disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 +MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-ige +MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256520 -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nls1 -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsl -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal protective protein deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cathepsin a deficiency MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268233 +MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neug deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus--cherry red spot syndrome -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherry red spot--myoclonus syndrome -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu1 deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cathepsin a deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal protective protein deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:606496 IL17F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml1 MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis MONDO:0009738 sialidosis type 2 skos:closeMatch NCIT:C125596 Neuraminidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus--cherry red spot syndrome +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherry red spot--myoclonus syndrome +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neug deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu1 deficiency MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796088 -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfdr syndrome -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256700 +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elejalde disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 +MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256700 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elejalde disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish vlincl -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish vlincl MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:608102 CLN5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln5 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile, finnish variant -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:608102 CLN5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln5 MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory, with anhidrosis -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cipa +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile, finnish variant MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256800 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020074 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cipa -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym navajo familial neurogenic arthropathy -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps6 -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory, with anhidrosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym navajo familial neurogenic arthropathy MONDO:0009747 Navajo neurohepatopathy skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256810 +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 +MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gan -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gan1 MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gan1 -MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn with excessive myelin outfolding, autosomal recessive MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with excessive myelin folding, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn with excessive myelin outfolding, autosomal recessive MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257100 -MONDO:0009755 neutrophil actin dysfunction skos:closeMatch NCIT:C675 NAD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nad -MONDO:0009755 neutrophil actin dysfunction skos:closeMatch OMIM:257150 neutrophil actin dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nad -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelinase deficiency MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257200 +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelin lipidosis +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268242 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NCIT:C126561 Niemann-Pick Disease, Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npc1 +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurovisceral storage disorder with vertical supranuclear ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder without sphingomyelinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, chronic neuronopathic form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurovisceral storage disorder with vertical supranuclear ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder without sphingomyelinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257220 -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:607623 NPC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npc1 -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:607623 NPC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label npc1 -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257270 -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva syndrome +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva1 -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva syndrome MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257320 -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis2 +MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement +MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuchal bleb, familial MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic hygroma, fetal MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nuchal bleb, familial MONDO:0009761 cystic hygroma skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocystic lymphatic malformation -MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuchal bleb, familial MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch OMIM:257500 obesity-hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pickwickian syndrome +MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular motor apraxia MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ocular motor apraxia -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch NCIT:C34497 Coma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coma MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saccade initiation failure, congenital MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular motor apraxia -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257790 +MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257790 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931646 -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculocerebral syndrome with hypopigmentation MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocerebral syndrome with hypopigmentation -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kramer syndrome MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257800 -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odod, autosomal recessive +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculocerebral syndrome with hypopigmentation +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kramer syndrome MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodentoosseous dysplasia, autosomal recessive -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odod, autosomal recessive MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd, autosomal recessive +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opc dwarfism MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257910 MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral syndrome MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopalatocerebral syndrome MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral dwarfism -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opc dwarfism -MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatoskeletal syndrome -MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3mc1 +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257910 MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with type 51d anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatoskeletal syndrome MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michels syndrome, formerly MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257920 -MONDO:0009771 oculotrichodysplasia skos:closeMatch OMIM:257960 oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otd -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257960 MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850332 +MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257960 MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257970 MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch OMIM:257970 oculorenocerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257980 +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoonychodermal dysplasia +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoonychodermal dysplasia -MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345217 -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects MONDO:0009774 cloacal exstrophy skos:closeMatch NCIT:C99142 OEIS Complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex -MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345217 +MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258100 +MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligosynaptic infertility MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligochiasmatic infertility MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258150 -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850320 +MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 MONDO:0009777 Oliver syndrome skos:closeMatch OMIM:258200 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial polydactyly and mental retardation -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omod1 -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dysplasia, congenital, with dislocation of radius MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia, generalized form +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850318 -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850317 +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate-omphalocele syndrome, lethal MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalocele-cleft palate syndrome, lethal +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850317 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-cleft palate syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalocele-cleft palate syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate-omphalocele syndrome, lethal -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpeo MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258450 -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peob1 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive progressive external ophthalmoplegia +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpeo MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opsismodysplasia -MONDO:0009785 opsismodysplasia skos:closeMatch OMIM:258480 opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opsismodysplasia -MONDO:0009785 opsismodysplasia skos:closeMatch OMIM:258480 opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opsismodysplasia -MONDO:0009785 opsismodysplasia skos:closeMatch OMIM:258480 opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opsmd MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 +MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 MONDO:0009786 optic atrophy 6 skos:closeMatch OMIM:258500 optic atrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, congenital or early infantile, autosomal recessive MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258500 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iraqi-jewish 'optic atrophy plus' -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile, with chorea and spastic paraplegia -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3, autosomal recessive -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgca3 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile, with chorea and spastic paraplegia MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258501 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3, autosomal recessive +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iraqi-jewish 'optic atrophy plus' +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 -MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naion, susceptibility to MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic neuropathy, anterior ischemic, susceptibility to -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis +MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naion, susceptibility to MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oral and digital anomalies with ichthyosis +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258840 MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850268 -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258860 +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796102 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia with gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine-delta-aminotransferase deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine keto acid aminotransferase deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia with gyrate atrophy of choroid and retina +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gyrate atrophy of choroid and retina -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oprt and odc deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ump synthase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:613891 UMPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label umps +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine monophosphate synthase deficiency +MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258900 +MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 +MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:613891 UMPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine monophosphate synthase deficiency MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258900 -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ump synthase deficiency MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps deficiency -MONDO:0009798 Primrose syndrome skos:closeMatch OMIM:259050 primrose syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prims +MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oprt and odc deficiency MONDO:0009798 Primrose syndrome skos:closeMatch OMIM:259050 primrose syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossified ear cartilages with mental deficiency, muscle wasting, and bony changes MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796121 MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259050 +MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, adolescent MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, adolescent -MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850186 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259250 -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta congenita, microcephaly, and cataracts MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, microcephaly, and cataracts +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta congenita, microcephaly, and cataracts MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, progressively deforming, with normal sclerae +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, progressively deforming, with normal sclerae -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 +MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brks1 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850168 -MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma +MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma +MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteosarcoma MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteosarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary multicentric -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mona -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-aqeel sewairi syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259600 -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-aqeel sewairi syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary multicentric +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mona +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis syndrome, recessive -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteolysis syndrome, recessive -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410422 MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259680 +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, chronic multifocal -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259690 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopenia and sparse hair MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopenia and sparse hair -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal recessive -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259710 -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, mild autosomal recessive form MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, mild autosomal recessive form +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259710 MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259720 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal tubular acidosis type 3 semapv:RegularExpressionReplacement -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 +MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432252 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ops +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, ocular form +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ops MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis pseudoglioma syndrome -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rns +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259775 -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch OMIM:259775 raine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rns MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850106 -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850105 +MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal alanine:glyoxylate aminotransferase deficiency +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym serine:pyruvate aminotransferase deficiency MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alanine-glyoxylate aminotransferase deficiency -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp1 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic agt deficiency -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym serine:pyruvate aminotransferase deficiency -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268164 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp2 +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyceric aciduria -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxylate reductase/hydroxypyruvate reductase deficiency MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oplahd -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxylate reductase/hydroxypyruvate reductase deficiency +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268525 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoprolinuria due to type 5-oxoprolinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260005 +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoprolinuria due to type 5-oxoprolinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 MONDO:0009826 PA polymorphism of alpha-2-globulin skos:closeMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-2-globulin polymorphism pa -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park15 -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallido-pyramidal syndrome -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850100 -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260300 -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic cancer +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallido-pyramidal syndrome +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer -MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen1 +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic cancer +MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850096 -MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement -MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:182128 SDS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sds -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:182128 SDS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sds +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym shwachman-diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067940 -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038522 -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subacute sclerosing leukoencephalitis MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch OMIM:260470 subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panencephalitis, subacute sclerosing +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038522 +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205770 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus carcinoma +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205770 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850079 MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260530 MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parana hard skin syndrome +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome, atypical -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson-dementia syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome, atypical MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson-dementia syndrome -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson-dementia syndrome +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850055 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850055 -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cerebellooptic atrophy -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cerebellooptic atrophy MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome +MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature +MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850040 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850040 +MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulose reductase deficiency +MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulosuria MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064170 -MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulosuria -MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulose reductase deficiency -MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pntsu +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 MONDO:0009847 pericardial effusion, chronic skos:closeMatch OMIM:260900 pericardial effusion, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pericarditis MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260910 MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056961 -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label perifolliculitis capitis abscedens et suffodiens, familial MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perifolliculitis capitis abscedens et suffodiens, familial +MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label perifolliculitis capitis abscedens et suffodiens, familial MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch OMIM:260920 hyper-igd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperimmunoglobulinemia d and periodic fever syndrome -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261000 -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1394891 +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070440 +MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1394891 +MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261000 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pernicious anemia, congenital, due to defect of intrinsic factor MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterocyte cobalamin malabsorption +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbp deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifunctional enzyme deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal bifunctional enzyme deficiency -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbp deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 +MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796012 MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261540 MONDO:0009856 Peters plus syndrome skos:closeMatch OMIM:261540 peters-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peters anomaly with short-limb dwarfism -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796012 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261550 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent müllerian duct syndrome +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male internal MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia uteri inguinale -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent oviduct syndrome -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male internal -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261550 -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppt syndrome +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849929 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppt syndrome MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849928 -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031485 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phenylketonuria, maternal -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031485 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym quinoid dihydropteridine reductase deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym qdpr deficiency -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpabh4c MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, c MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhpr deficiency -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym quinoid dihydropteridine reductase deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, a -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, a MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878676 -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pckdm +MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck2 deficiency MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck2 deficiency -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:614095 PCK2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck2 -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgamm deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd10 +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261680 MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck deficiency, cytosolic MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck1 deficiency, cytosolic -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pckdc -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261740 +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal congenital hypertrophic cardiomyopathy due to glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver and muscle phosphorylase kinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543514 +MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver and muscle phosphorylase kinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261750 -MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis of liver and muscle, autosomal recessive MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase kinase deficiency of liver and muscle, autosomal recessive -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome +MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis of liver and muscle, autosomal recessive MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261800 -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prbns -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossoptosis, micrognathia, and cleft palate +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch NCIT:C85010 Pierre Robin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261800 +MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pili torti, early-onset MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti, early-onset MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261900 -MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pili torti, early-onset -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849811 -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849811 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261990 +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and developmental delay MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266006 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label björnstad syndrome -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 +MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 MONDO:0009872 Bjornstad syndrome skos:closeMatch OMIM:262000 bjornstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and nerve deafness -MONDO:0009872 Bjornstad syndrome skos:closeMatch OMIM:262000 bjornstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptd -MONDO:0009872 Bjornstad syndrome skos:closeMatch OMIM:262000 bjornstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bjs MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pilodental dysplasia with refractive errors -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilodental dysplasia with refractive errors MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia with hyperopia MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mendenhall syndrome -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mendenhall syndrome +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total colorblindness with myopia MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achm1, formerly -MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia with myopia -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd1a -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated gh deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ighd MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ighd -MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity syndrome -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome MONDO:0009877 Laron syndrome skos:closeMatch NCIT:C129867 Growth Hormone Insensitivity Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome +MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome +MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity syndrome +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panhypopituitarism MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hanhart dwarfism -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cphd2 MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ateliotic dwarfism with hypogonadism MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panhypopituitarism -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch NCIT:C110940 Panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panhypopituitarism -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849779 +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biodefective growth hormone MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kowarski syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biodefective growth hormone -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cphd4 -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, pituitary and cerebellar defects, and small sella turcica +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with or without cerebellar defects MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262700 +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, pituitary and cerebellar defects, and small sella turcica +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with or without cerebellar defects +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262850 MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital alpha2-antiplasmin deficiency MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antiplasmin deficiency MONDO:0009884 platelet prostacyclin receptor defect skos:closeMatch OMIM:262875 platelet prostacyclin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vienna-hietzing defect -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262890 -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796149 -MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin consumption inhibitor, familial -MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin conversion defect, familial +MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin consumption inhibitor, familial MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding abnormality due to deficiency of platelet binding of factor type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonitis, desquamative interstitial, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial pneumonitis, desquamative, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ild, desquamative -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial +MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796149 +MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262890 MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, desquamative semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonia, desquamative interstitial, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dip -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonitis, desquamative interstitial, familial +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ild, desquamative +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial pneumonitis, desquamative, familial +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:606702 PKHD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkhd1 -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:606702 PKHD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pkhd1 -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gikanis -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263210 -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263300 +MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036057 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 -MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263300 MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, vhl-dependent -MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt2 MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chuvash erythrocytosis -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 +MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263450 -MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch OMIM:263450 polydactyly, postaxial, iia a5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa5 MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263520 -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849732 -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263540 -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with dental and vertebral anomalies MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with dental and vertebral anomalies -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apbn -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body neuropathy, adult form -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body neuropathy, adult form -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body disorder, adult form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with dental and vertebral anomalies +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263540 +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849732 MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 +MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body neuropathy, adult form +MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body disorder, adult form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body neuropathy, adult form MONDO:0009899 polyhydramnios, chronic idiopathic skos:closeMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactogen receptor defect of chorion MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849719 MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263630 -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with cardiac malformation MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly with cardiac malformation +MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with cardiac malformation MONDO:0009901 Bartsocas-Papas syndrome skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263650 MONDO:0009901 Bartsocas-Papas syndrome skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849718 MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartsocas-papas syndrome MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartsocas-papas syndrome -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, congenital erythropoietic -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gunther disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, congenital erythropoietic +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen type 3 synthase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gunther disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uros deficiency MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, congenital erythropoietic MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263750 MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265257 MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch OMIM:263750 postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genee-wiedemann syndrome +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 MONDO:0009904 Gitelman syndrome skos:closeMatch OMIM:263800 gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium and magnesium depletion -MONDO:0009904 Gitelman syndrome skos:closeMatch OMIM:263800 gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtlmns -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi habitus, osteopenia, and camptodactyly MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi habitus, osteopenia, and camptodactyly +MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi habitus, osteopenia, and camptodactyly MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264010 MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796189 MONDO:0009906 prenatal bowing skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264050 MONDO:0009907 Prepapillary vascular loops skos:closeMatch OMIM:264060 prepapillary vascular loops semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preretinal vascular loops +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterin-4 alpha-carbinolamine dehydratase deficiency MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, d -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpabh4d MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, d -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterin-4 alpha-carbinolamine dehydratase deficiency +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 MONDO:0009909 progesterone resistance skos:closeMatch OMIM:264080 progesterone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocorpus luteum insufficiency +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:closeMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prl deficiency with obesity and enlarged testes +MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 +MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264270 MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849696 -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, with skeletal anomalies MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudohermaphroditism, female, with skeletal anomalies -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, with skeletal anomalies MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male, with gynecomastia MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ketosteroid reductase deficiency of testis MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male, with gynecomastia -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pseudohypoaldosteronism type 1 +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal recessive MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264420 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisomal acyl-coa oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym straight-chain acyl-coa oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoneonatal adrenoleukodystrophy -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym straight-chain acyl-coa oxidase deficiency MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849661 MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264475 MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoo syndrome MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264480 +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly-polydactyly syndrome -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch NCIT:C125418 Pseudotrisomy 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264480 MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to type 5-alpha-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppsh -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264600 +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, modifier of severity of +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe, modifier of severity of -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, modifier of severity of -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, escobar variant -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, escobar variant +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe, modifier of severity of +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, escobar variant +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, escobar variant +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265000 -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnevale syndrome, formerly -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3mc2 MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis of eyelids with diastasis recti and hip dysplasia -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265050 +MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome +MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnevale syndrome, formerly MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculo-skeletal-abdominal syndrome -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155912 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265100 +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nonspecific, due to surfactant protein b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265120 -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary atresia with intact ventricular septum +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265150 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344975 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, pulmonary, congenital -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpl -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary cystic lymphangiectasis -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, pulmonary, congenital -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, pulmonary, congenital MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiomatosis, pulmonary -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary cystic lymphangiectasis +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, pulmonary, congenital MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265400 -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary pulmonary hypoplasia -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia, primary MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypoplasia, primary +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary pulmonary hypoplasia +MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pvod MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265500 MONDO:0009938 pulmonic stenosis skos:exactMatch NCIT:C50715 Pulmonary Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary stenosis +MONDO:0009940 pycnodysostosis skos:closeMatch OMIM:265800 pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pycd MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 +MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238402 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265800 -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238402 -MONDO:0009940 pycnodysostosis skos:closeMatch OMIM:265800 pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pycd MONDO:0009941 Pygmy skos:closeMatch OMIM:265850 pygmy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygmy, african -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849523 +MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 +MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 +MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondrodysplasia calcificans metaphysealis -MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia calcificans metaphysealis -MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265900 -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 +MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia calcificans metaphysealis +MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidine type 5-prime nucleotidase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy +MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to p5n deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gssd -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidine type 5-prime nucleotidase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyroglutamic aciduria +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-oxoprolinuria +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NCIT:C98943 Hereditary Pyropoikilocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary pyropoikilocytosis -MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpp -MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpp -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931141 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034341 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931141 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pk deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266200 MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340968 MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate kinase deficiency +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pk deficiency MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis, unilateral, with developmental retardation and hypotonia -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis, unilateral, with developmental retardation and hypotonia +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 +MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 -MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhs -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 +MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 -MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849453 -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 +MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 +MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266280 +MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849453 +MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 +MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 -MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038275 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch OMIM:266510 peroxisome biogenesis disorder 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd3b -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 +MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch NCIT:C84789 Infantile Refsum Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulcerative colitis -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder-associated growth failure, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym regional enteritis +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder-associated growth failure, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2952 Ulcerative Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulcerative colitis -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia and retinal aplasia MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn1 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loken-senior syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile nephronophthisis with leber amaurosis MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-retinal syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia and retinal aplasia -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rl syndrome -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266910 +MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 +MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rl syndrome MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266920 MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796113 MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267000 MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hamartomas, nephroblastomatosis, and fetal gigantism MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor -MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlmns MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 7 semapv:RegularExpressionReplacement -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch OMIM:267010 meckel syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-hepatic-pancreatic dysplasia with dandy-walker cyst MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 +MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch OMIM:267010 meckel syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-hepatic-pancreatic dysplasia with dandy-walker cyst MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673885 -MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 7 semapv:RegularExpressionReplacement MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267200 MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta with progressive nerve deafness -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, autosomal recessive, with progressive nerve deafness -MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal, genital, and middle ear anomalies +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal, genital, and middle ear anomalies -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis with choanal atresia and athelia +MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal, genital, and middle ear anomalies +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtd -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis with choanal atresia and athelia MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267450 MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular dysgenesia -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic hypoplasia, generalized -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aleukocytosis -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:111620 radin blood group antigen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rd -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267500 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 +MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic hypoplasia, generalized MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aleukia -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrophagocytic lymphohistiocytosis, familial -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603553 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603552 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613101 +MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aleukocytosis +MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular dysgenesia MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic reticulosis, familial +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh1 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh1 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulosis, familial histiocytic -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch OMIM:300163 FHL1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fhl1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch OMIM:300163 FHL1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhl1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038804 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrophagocytic lymphohistiocytosis, familial +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038804 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267760 +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, reticular pigmentary, of posterior pole MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, reticular pigmentary, of posterior pole +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, reticular pigmentary, of posterior pole MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179840 MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267800 MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867332 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, late-adult onset -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, senile' semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268025 MONDO:0009985 retinohepatoendocrinologic syndrome skos:closeMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhe syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:closeMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirhosseini-holmes-walton syndrome @@ -14490,681 +13078,633 @@ MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeM MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, autosomal recessive MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, autosomal recessive MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, pericentral -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268130 MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327916 +MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268130 +MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria, familial paroxysmal paralytic MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyolysis, acute recurrent MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268200 -MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria, familial paroxysmal paralytic +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065868 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma chromosomal region -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rmse1 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, alveolar MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206655 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065867 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rms2 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, alveolar -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268250 +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic dysplasia, familial MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268250 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic syndrome -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic dysplasia, familial -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate -MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc phocomelia +MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 -MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome -MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc phocomelia -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa-pereira syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate +MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with cleft mandible and limb anomalies MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa-pereira syndrome MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with cleft mandible and limb anomalies -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268305 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome, formerly -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with brachy-syn-polydactyly -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation defect with mesomelia, formerly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome, formerly +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with brachy-syn-polydactyly +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 +MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rodrigues blindness MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849332 MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodrigues blindness -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rodrigues blindness MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268320 -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032339 +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rts +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract MONDO:0010003 Rowley-Rosenberg syndrome skos:closeMatch OMIM:268500 rowley-rosenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, pulmonary hypertension, and amino aciduria -MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rudiger syndrome -MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rudiger syndrome MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406704 +MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rudiger syndrome +MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rudiger syndrome +MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268556 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268700 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268556 MONDO:0010005 saccharopinuria skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0010005 saccharopinuria skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 MONDO:0010006 Sandhoff disease skos:closeMatch OMIM:268800 sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, mental retardation, eye anomalies, and cleft lip/palate +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sao paulo mca/mr syndrome MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa/guion-almeida syndrome -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richieri-costa/guion-almeida syndrome -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sao paulo mca/mr syndrome -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcos -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersarcosinemia MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersarcosinemia +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sard deficiency MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268563 -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel-giedion midface retraction syndrome MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel-giedion midface retraction syndrome MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs -MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgs -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs -MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgs -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265227 +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063540 -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel-giedion midface retraction syndrome -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch OMIM:300527 NUDT10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aps2 +MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 +MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, addison disorder, myxedema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal neonatal, with snail-like pelvis MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432194 -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal neonatal, with snail-like pelvis -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shnknd -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmdd -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniometadiaphyseal dysplasia MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniometadiaphyseal dysplasia +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniometadiaphyseal dysplasia MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269300 MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asgd7 -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerocornea with other ocular anomalies -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 -MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:605740 SOST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sost -MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:605740 SOST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sost +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerocornea with other ocular anomalies MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269500 MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly -MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sost -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, sea-blue MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, sea-blue MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocytosis +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 MONDO:0010019 secretory component deficiency skos:closeMatch OMIM:269650 secretory component deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga deficiency, secretory MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berardinelli syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, bscl2-related -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seip syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, total, and acromegaloid gigantism -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seip syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes, congenital MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269700 +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign familial neonatal, autosomal recessive MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns, autosomal recessive -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269720 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective t-cell defect +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd48 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short rib-polydactyly syndrome, beemer-langer type -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srtd12 -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269860 MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010025 short stature-obesity syndrome skos:closeMatch OMIM:269870 short stature-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssos -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878684 +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269860 MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269880 +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, with rieger anomaly and short stature MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878684 +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nana storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylneuraminic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067532 -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nana storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialuria, infantile form -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067532 MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269921 MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0010028 sialuria skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 -MONDO:0010029 situs inversus skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270100 MONDO:0010029 situs inversus skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs ambiguus -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary sjögren syndrome -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sicca syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 +MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 +MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary sjögren syndrome MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty aldehyde dehydrogenase deficiency MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty alcohol:nad+ oxidoreductase deficiency MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faldh deficiency -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:closeMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, sjogren-larsson-like, without cns or eye involvement -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss1 -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:612792 PTDSS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss1 -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, sex reversal, renal hypoplasia, and unilobar lung -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270400 +MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal acrodysgenital syndrome -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar3 -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, sex reversal, renal hypoplasia, and unilobar lung +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270400 +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium diarrhea, congenital +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270420 -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:closeMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium pump sites, number of MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to, due to increased binding protein MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin, end-organ insensitivity to MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin-c, resistance to -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270450 MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf-i resistance -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1res -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849157 MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor i, resistance to -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch OMIM:270460 sonoda syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796162 +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270450 +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849157 +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270460 +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796162 +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch OMIM:270460 sonoda syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacs +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacs -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia of charlevoix-saguenay +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch NCIT:C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270700 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 23 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270750 -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, vitiligo, premature graying, characteristic facies MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796019 +MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 23 +MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, vitiligo, premature graying, characteristic facies +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849115 MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270800 -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paresis, glaucoma, and mental retardation -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paresis, glaucoma, and mental retardation MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849113 MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270850 -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic quadriplegia, retinitis pigmentosa, and mental retardation -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic quadriplegia, retinitis pigmentosa, and mental retardation -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paresis, glaucoma, and mental retardation +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paresis, glaucoma, and mental retardation MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849112 -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pregnancy loss, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic quadriplegia, retinitis pigmentosa, and mental retardation +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic quadriplegia, retinitis pigmentosa, and mental retardation MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia due to perturbations of meiosis +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenesis arrest +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pregnancy loss, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia with maturation arrest -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf4 MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270960 -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenesis arrest MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270970 -MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch OMIM:126370 dna, satellite, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hs3 MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch OMIM:270970 spherocytosis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch OMIM:271150 spinal muscular atrophy, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, proximal, adult, autosomal recessive MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 4 semapv:RegularExpressionReplacement -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158590 -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile-onset -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile, with sensory neuropathy -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile, with sensory neuropathy MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps7 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with blindness and deafness -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271250 +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849094 -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849088 -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271270 -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysmorphism +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271250 MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with dysmorphism -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysmorphism +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271270 +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849088 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration and corneal dystrophy -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy with spinocerebellar degeneration MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration and corneal dystrophy +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy with spinocerebellar degeneration +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271320 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849085 -MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsem -MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icas -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, familial +MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asplenia, isolated congenital +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, familial MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenic hypoplasia +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyposplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271400 -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyposplenia, isolated congenital -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sponastrime dysplasia MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylar and nasal alterations with striated metaphyses MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sponastrime dysplasia MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sponastrime dysplasia +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis with anal atresia and urogenital anomalies MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis with anal atresia and urogenital anomalies MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmn syndrome -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia with pure brachyolmia MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271530 +MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia with pure brachyolmia MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849053 -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with mental retardation MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedt with mental retardation +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849053 +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with mental retardation MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with mental retardation MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271630 MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paps-chondroitin sulfate sulfotransferase deficiency MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271640 -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semdjl1 MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271650 MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432213 -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdit -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796173 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch OMIM:271700 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloperipheral dysplasia with short ulna -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spongy degeneration of central nervous system -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asp deficiency +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspa deficiency MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067608 +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asp deficiency +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067608 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspa deficiency -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label striatonigral degeneration, infantile -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sndi -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatonigral degeneration, infantile -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatonigral degeneration, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label striatonigral degeneration, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 +MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271960 MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795947 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadhd -MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudanophilic cerebral sclerosis -MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272150 +MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis +MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudanophilic cerebral sclerosis MONDO:0010087 Sugarman brachydactyly skos:closeMatch OMIM:272150 sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with major proximal phalangeal shortening -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency -MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sulfatase deficiency -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 +MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272150 MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268263 -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 +MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 +MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272350 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciss1 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sohar-crisponi syndrome -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 -MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome +MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filippi syndrome -MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flpis -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:182099 SCT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sct -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:182099 SCT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sct -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272460 +MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with unilateral unsegmented bar MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synspondylism, congenital -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848932 -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetoretinal degeneration with ataxia MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tapetoretinal degeneration with ataxia -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetoretinal degeneration with ataxia +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848932 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2 activator deficiency +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ab variant gm2-gangliosidosis -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, ab variant +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NCIT:C133084 GM2-Gangliosidosis, AB Variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2 activator deficiency -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, variant b1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexa deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, variant b1 -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, pseudo-ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, pseudo-ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsd -MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b variant gm2-gangliosidosis +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, variant b1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency +MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848912 -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbsh -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 -MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurodontia, absent teeth, and sparse hair +MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, congenital absence of, with taurodontia and sparse hair +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848903 MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, noneruption of, with maxillary hypoplasia and genu valgum -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848903 -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tgct -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatocytic seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male germ cell tumor MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, testicular -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonal cell carcinoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male germ cell tumor -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonseminomatous germ cell tumors -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatocytic seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonseminomatous germ cell tumors MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch NCIT:C9309 Seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seminoma MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 +MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931218 -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273400 -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273730 -MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848863 MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273740 -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym le merrer syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m1 -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 MONDO:0010120 thrombocytopenia 3 skos:closeMatch OMIM:273900 thrombocytopenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 200-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, congenital -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic microangiopathy, familial MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia, congenital MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schulman-upshaw syndrome -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upshaw factor, deficiency of -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttp -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttp +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, congenital MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, familial -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb agenesis, short stature, and immunodeficiency +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic microangiopathy, familial +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upshaw factor, deficiency of MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb agenesis, short stature, and immunodeficiency -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274190 +MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb agenesis, short stature, and immunodeficiency MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848818 -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 +MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274190 MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848816 +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274230 MONDO:0010127 thymoma, familial skos:closeMatch OMIM:274230 thymoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymic neoplasia -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274240 MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrocerebroretinal syndrome MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrocerebroretinal syndrome +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274240 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848812 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274265 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpd deficiency MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpyd deficiency +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpd deficiency MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidinemia, familial MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymine-uraciluria, hereditary MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052622 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274300 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:190160 THRB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrb MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NCIT:C17736 Thyroid Hormone Receptor Beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone receptor beta -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:190160 THRB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrb +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274300 +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refetoff syndrome MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch NCIT:C121750 Thyroid Peroxidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 +MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271829 -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 -MONDO:0010134 Pendred syndrome skos:closeMatch OMIM:274600 pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pds +MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch NCIT:C131435 Deiodinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deiodinase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 -MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10CM:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grd MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10WHO:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement +MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10CM:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grd1 +MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, autoimmune MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:exactMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, autoimmune MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary cretinism -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin, biologically inactive +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin deficiency, isolated MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone deficiency +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin, biologically inactive MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh deficiency -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothalamic hypothyroidism -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trh deficiency -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrotropin-releasing hormone deficiency +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275120 -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trh deficiency +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrotropin-releasing hormone deficiency +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothalamic hypothyroidism +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to tsh resistance -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, nonautoimmune MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism due to unresponsiveness to thyrotropin -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275200 -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, nonautoimmune -MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thm MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275220 -MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinea imbricata, susceptibility to +MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea imbricata, susceptibility to +MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinea imbricata, susceptibility to MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0276742 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713583 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040587 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044316 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mounier-kühn syndrome MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275300 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tc type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn2 deficiency -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn2 deficiency +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tc type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma, head and neck -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma, head and neck MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma, head and neck MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long, with mental retardation -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omcs +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848745 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275400 MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichoodontoonychial dysplasia with bone deficiency @@ -15172,977 +13712,883 @@ MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoo MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275450 MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848743 +MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275595 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cds -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dorfman-chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triglyceride storage disorder with impaired long-chain fatty acid oxidation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chanarin-dorfman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275630 +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dorfman-chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cds -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275630 +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275900 +MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393559 -MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, childhood-onset, with distal muscle wasting MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010156 Troyer syndrome skos:exactMatch OMIM:607111 SPART semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg20 -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome +MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, childhood-onset, with distal muscle wasting MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mismatch repair deficiency +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C3938 Turcot Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turcot syndrome MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C136712 Mismatch Repair Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair deficiency -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276600 -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tat deficiency MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with corneal dystrophy MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine aminotransferase deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine transaminase deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrsn2 -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tat deficiency MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069463 -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 +MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276600 +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine transaminase deficiency +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268490 -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 -MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrsn1 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268623 -MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvic acid oxidase deficiency -MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrsn3 -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 +MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvic acid oxidase deficiency MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvate dioxygenase deficiency MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, absence of, with severe limb deficiency -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, absence of, with severe limb deficiency MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, absence of, with severe limb deficiency +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931370 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848650 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with mental retardation MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with mental retardation +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with mental retardation +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848650 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931370 MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency -MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocd MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocanase deficiency MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268514 MONDO:0010168 Usher syndrome type 1 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa and congenital deafness -MONDO:0010168 Usher syndrome type 1 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym us1 -MONDO:0010168 Usher syndrome type 1 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush1 -MONDO:0010169 Usher syndrome type 2A skos:exactMatch OMIM:608400 USH2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush2a -MONDO:0010169 Usher syndrome type 2A skos:exactMatch OMIM:608400 USH2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ush2a MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 -MONDO:0010171 Usher syndrome type 1C skos:exactMatch OMIM:605242 USH1C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ush1c -MONDO:0010171 Usher syndrome type 1C skos:exactMatch OMIM:605242 USH1C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush1c +MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vacterl association with hydrocephalus MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with macrocephaly and ventriculomegaly +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with hydrocephalus -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von mayer-rokitansky-kuster anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urogenital adysplasia -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrk anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bipartitus solidus rudimentarius cum vagina solida -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von mayer-rokitansky-kuster anomaly MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bipartitus solidus rudimentarius cum vagina solida +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrk anomaly MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome type 1 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 -MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypervalinemia +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine transaminase deficiency -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi-papp syndrome -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypervalinemia +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745997 MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi-papp syndrome +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277175 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavd -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbavd -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label right ventricular hypoplasia, isolated +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irvh MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right ventricular hypoplasia, isolated -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo1 -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label right ventricular hypoplasia, isolated MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with external ophthalmoplegia +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, oculogastrointestinal MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral myopathy, familial, with external ophthalmoplegia -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral myopathy, familial, with external ophthalmoplegia MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277320 -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, oculogastrointestinal -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with external ophthalmoplegia +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral myopathy, familial, with external ophthalmoplegia MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277350 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin f disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mahcf -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 lysosomal release defect -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria due to vitamin b12-release defect -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria type cblf +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria due to vitamin b12-release defect +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblf type +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 lysosomal release defect +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mahcc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, cblc type, digenic MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblc type MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic acidemia, cblh type, formerly +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cblh type, formerly MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cbld type, variant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mahcd -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cbld type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cbld type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets-alopecia syndrome -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets with end-organ unresponsiveness to type 1,25-dihydroxycholecalciferol semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets, hereditary vitamin d-resistant MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemic vitamin d-resistant rickets -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vddr2a MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamic acid, deficient gamma-carboxylation of +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent coagulation defect +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors ii, vii, ix, and x, combined deficiency of -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd1 +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent coagulation defect -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamic acid, deficient gamma-carboxylation of MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, friedreich-like, with selective vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047631 MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym volendam neurodegenerative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with progressive cerebral atrophy -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2a MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264041 +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with progressive cerebral atrophy +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym volendam neurodegenerative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264041 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277580 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wvs -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver-smith syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277590 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver-smith syndrome MONDO:0010193 Weaver syndrome skos:closeMatch NCIT:C125599 Weaver Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277600 -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wms1 +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277700 -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049429 -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 -MONDO:0010196 Werner syndrome skos:closeMatch OMIM:277700 werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wrn +MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049429 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043119 +MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277720 -MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-induced encephalopathy +MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277740 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 +MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 MONDO:0010200 Wilson disease skos:closeMatch OMIM:606882 ATP7B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd +MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd +MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019202 -MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wd MONDO:0010200 Wilson disease skos:closeMatch NCIT:C84756 Hepatolenticular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch OMIM:112010 blood group--waldner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wd -MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label winchester syndrome MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolff mental retardation syndrome MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolff mental retardation syndrome +MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 +MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipa deficiency +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 MONDO:0010206 hypotrichosis 8 skos:closeMatch OMIM:278150 hypotrichosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 1, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, hypotrichosis, everted lower lip, and outstanding ears MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, hypotrichosis, everted lower lip, and outstanding ears -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 +MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 +MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a +MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group a -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278700 -MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch OMIM:611153 XPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xpa -MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch OMIM:611153 XPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xpa +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group a +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group c -MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch OMIM:613208 XPC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xpc MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278720 -MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch OMIM:613208 XPC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xpc MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp4 xeroderma pigmentosum viii, formerly -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group e -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group e MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group e MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpe MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278740 -MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch OMIM:612610 LCE2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xp5 -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278750 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant +MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f +MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group g +MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278850 +MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxx2 -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barry-perkins-young syndrome -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, obstructive, and chronic sinopulmonary infections MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:279000 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063689 -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, obstructive, and chronic sinopulmonary infections +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barry-perkins-young syndrome +MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:279000 +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, congenital heart disorder, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848392 -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz gbbb syndrome, x-linked +MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome, x-linked +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz gbbb syndrome, x-linked +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300001 -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with abnormal genitalia MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with abnormal genitalia +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, hypercalciuric, x-linked MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, hypercalciuric, x-linked -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy2 -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, dax1-related +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dosage-sensitive sex reversal +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, dax1-related MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod degeneration, x-linked -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300029 MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300029 +MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300030 MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4, congenital sensorineural semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnx3 -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300042 -MONDO:0010229 alopecia, congenital skos:closeMatch OMIM:300042 alopecia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpc -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital short bowel syndrome, x-linked +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciip, x-linked MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital idiopathic intestinal pseudoobstruction -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipox -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciip, x-linked +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital short bowel syndrome, x-linked -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvnh1 +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipox +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular heterotopia, bilateral periventricular MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, familial nodular -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spasticity MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 +MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, with craniofacial dysmorphism MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with craniofacial dysmorphism -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300066 +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 6, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural progressive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfnx4 MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlis +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300066 +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural progressive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlis -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia, x-linked +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia, x-linked -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lisx1 -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch NCIT:C116933 Double Cortex Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label double cortex syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848199 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300071 -MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch OMIM:300071 night blindness, congenital stationary, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb2a MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300073 MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300076 MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848144 MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300085 -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, female-restricted, with mental retardation -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848137 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848137 +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, female-restricted, with mental retardation MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ald -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronze schilder disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siemerling-creutzfeldt disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanodermic leukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenomyeloneuropathy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NCIT:C61252 Adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ald +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siemerling-creutzfeldt disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenomyeloneuropathy -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdx +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronze schilder disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NCIT:C61252 Adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenomyeloneuropathy +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848097 -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 +MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 -MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with isolated growth hormone deficiency +MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with panhypopituitarism +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with isolated growth hormone deficiency MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfts +MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:closeMatch OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus, x-linked, susceptibility to -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 +MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer susceptibility, x-linked +MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 +MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300148 -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 +MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300155 MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, congenital, lower limb, x-linked MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, congenital, lower limb, x-linked -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch OMIM:300166 microphthalmia, syndromic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops2 MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch OMIM:300166 microphthalmia, syndromic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, radiculomegaly, and septal heart defects -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 +MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846242 -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with isolated gonadotropin deficiency -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342482 -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300200 -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked ahc -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytomegalic adrenocortical hypoplasia -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with hhg +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with isolated gonadotropin deficiency +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked ahc +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300200 +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342482 MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:closeMatch OMIM:300209 simpson-golabi-behmel syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs2 -MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, with ambiguous genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlisg -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lisx2 -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, with ambiguous genitalia +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010269 Coats disease skos:closeMatch OMIM:300216 coats disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal telangiectasis MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015901 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmad x-linked mental retardation syndrome +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmad x-linked mental retardation syndrome +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy with abnormal genital development MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300219 MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotubular myopathy with abnormal genital development -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy with abnormal genital development MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, x-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300221 -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with metaphyseal chondrodysplasia -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked, with mental deterioration MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300232 +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked, with mental deterioration +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with metaphyseal chondrodysplasia +MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300238 MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shashi type -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300243 -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678194 MONDO:0010278 Christianson syndrome skos:closeMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman-like syndrome, x-linked -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 +MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678194 +MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300243 +MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia and pigmentary defects +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous dysplasia, digital, with facial pigmentary defects and multiple frenula MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tod -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous dysplasia, digital, with facial pigmentary defects and multiple frenula -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia and pigmentary defects +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300245 -MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, x-linked MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptos2 -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolar cardiomyopathy and myopathy, x-linked +MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, x-linked MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to lamp-2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antopol disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iib, formerly +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antopol disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolar cardiomyopathy and myopathy, x-linked MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoglycogenosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal glycogen storage disorder without acid maltase deficiency, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010282 mycobacterium tuberculosis, susceptibility to, X-linked skos:closeMatch OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtbsx +MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846058 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300260 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846057 MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300261 +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300262 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, abidi type -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abidi x-linked mental retardation syndrome MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300263 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, siderius type MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846055 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 +MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846046 +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300266 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846044 +MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcmsu -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uruguay faciocardiomusculoskeletal syndrome -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome +MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcms -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uruguay faciocardiomusculoskeletal syndrome MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immune deficiency MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846006 -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, x-linked -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scnx -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845987 +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, x-linked +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NCIT:C176818 Neutropenia, Severe Congenital, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 -MONDO:0010296 immunodeficiency 61 skos:closeMatch OMIM:300310 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xla2 -MONDO:0010297 FG syndrome 2 skos:closeMatch OMIM:300321 fg syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fgs2 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, neurologic variant MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lns MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057589 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, complete -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, neurologic variant +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency, partial -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, complete MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, partial MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, hprt-related MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency, partial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency, partial MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268117 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010302 Ito hypomelanosis skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmi -MONDO:0010302 Ito hypomelanosis skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incontinentia pigmenti achromians MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010302 Ito hypomelanosis skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incontinentia pigmenti achromians MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 -MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grdx1 -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency +MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, short stature, and midface hypoplasia +MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 +MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome, x-linked -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccds1 +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine transporter defect -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, short stature, and midface hypoplasia MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845861 -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch NCIT:C167216 Mental Retardation, X-Linked, Syndromic, Cabezas Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, cabezas type -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 -MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xltda +MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300367 MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432268 +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopathia striata-cranial sclerosis syndrome MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch OMIM:300373 osteopathia striata with cranial sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oscs -MONDO:0010311 Becker muscular dystrophy skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmd +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432268 MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059117 MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300376 MONDO:0010311 Becker muscular dystrophy skos:closeMatch NCIT:C84587 Becker's Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beckers muscular dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010312 radial ray deficiency, X-linked skos:closeMatch OMIM:300378 radial ray deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrdx +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perisylvian syndrome, congenital bilateral -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpp -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgx +MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 +MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perisylvian syndrome, congenital bilateral +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300400 +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, x-linked -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, x-linked -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scidx -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010316 FG syndrome 3 skos:closeMatch OMIM:300406 fg syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fgs3 -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 87 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010318 FG syndrome 4 skos:closeMatch OMIM:300422 fg syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with or without nystagmus -MONDO:0010318 FG syndrome 4 skos:closeMatch OMIM:300422 fg syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fgs4 +MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with epilepsy +MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, hedera type -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with epilepsy MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300424 -MONDO:0010321 autism, susceptibility to, X-linked 1 skos:closeMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autsx1 -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch OMIM:300431 atkin-flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atkin syndrome +MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300431 -MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 +MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch OMIM:300431 atkin-flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atkin syndrome MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx +MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hsd10 deficiency, atypical type MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hsd10 deficiency, atypical type MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 10 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia myelodysplasia syndrome MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia myelodysplasia syndrome MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, acquired semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0585216 -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia myelodysplasia syndrome -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:closeMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds3 MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300471 MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845450 MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300472 -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddch +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contiguous abcd1/dxs1375e deletion syndrome -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, and cerebral hypomyelination -MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with hypoplastic epiglottis -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300484 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300484 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300486 -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked recessive -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked recessive +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 -MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:closeMatch OMIM:300494 asperger syndrome, x-linked, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspgx1 -MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:closeMatch OMIM:300494 asperger syndrome, x-linked, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, x-linked, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:closeMatch OMIM:300494 asperger syndrome, x-linked, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, x-linked, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010342 autism, susceptibility to, X-linked 3 skos:closeMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autsx3 -MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 skos:closeMatch OMIM:300497 asperger syndrome, x-linked, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspgx2 -MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 skos:closeMatch OMIM:300497 asperger syndrome, x-linked, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, x-linked, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 skos:closeMatch OMIM:300497 asperger syndrome, x-linked, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, x-linked, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 -MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, x-linked -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg2 -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic, due to ovarian dysgenesis MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 -MONDO:0010350 premature ovarian failure 2A skos:closeMatch OMIM:300511 premature ovarian failure 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof2a -MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch OMIM:300515 FANCB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancb -MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch OMIM:300515 FANCB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancb -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group b -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b +MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic, due to ovarian dysgenesis MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300514 +MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b +MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b -MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym martin-probst deafness-mental retardation syndrome +MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsmp -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness-intellectual disability syndrome, martin-probst type +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym martin-probst deafness-mental retardation syndrome MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300519 +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness-intellectual disability syndrome, martin-probst type +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with hypotonia +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t3 resistance -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and muscular atrophy -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, jarid1c-related +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300534 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845202 -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement +MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 +MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845167 MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 +MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300557 MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 MONDO:0010362 glycogen storage disease IXd skos:closeMatch OMIM:300559 glycogen storage disease ixd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogenosis, x-linked MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300559 MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with retinitis pigmentosa -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xp11.3 deletion syndrome +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300580 -MONDO:0010366 FG syndrome 5 skos:closeMatch OMIM:300581 fg syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fgs5 MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, idiopathic, x-linked -MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, idiopathic, x-linked -MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iss MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 +MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, idiopathic, x-linked MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300590 -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls2 MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls, x-linked -MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300600 MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 -MONDO:0010373 premature ovarian failure 2B skos:closeMatch OMIM:300604 premature ovarian failure 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof2b +MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300605 -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperekplexia and epilepsy MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, x-linked, type 1, with peripheral sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfnx5 +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperekplexia and epilepsy +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked hsan with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked hereditary sensory and autonomic neuropathy with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked hsan with deafness +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, x-linked, type 1, with peripheral sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010379 Brunner syndrome skos:closeMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antisocial behavior, susceptibility to -MONDO:0010379 Brunner syndrome skos:closeMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brnrs -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300615 MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796275 +MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300615 MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:closeMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casm syndrome -MONDO:0010381 Tn polyagglutination syndrome skos:closeMatch OMIM:300622 tn polyagglutination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnps MONDO:0010381 Tn polyagglutination syndrome skos:closeMatch OMIM:300622 tn polyagglutination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosyltransferase deficiency -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300623 -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839780 -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fxtas MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839780 MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x tremor/ataxia syndrome +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300623 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 premature ovarian failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary ovarian insufficiency, fragile x-associated +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016667 MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marker type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with marxq28 MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked mental retardation and macroorchidism -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016667 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary ovarian insufficiency, fragile x-associated -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 premature ovarian failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 -MONDO:0010384 hypospadias 1, X-linked skos:closeMatch OMIM:300633 hypospadias 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hysp1 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300633 +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xiap deficiency MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xiap deficiency MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 -MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resdx +MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked +MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resdx MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300643 -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd34 -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oasd -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and ocular albinism +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, ocular, with late-onset sensorineural deafness MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism, ocular, with late-onset sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular albinism with sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845069 +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and ocular albinism MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300650 -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, ocular, with late-onset sensorineural deafness +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845069 +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular albinism with sensorineural deafness MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300652 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970848 +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 -MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970848 MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with macrocephaly -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 +MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, prps-related +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, neonatal severe, due to mecp2 mutations MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, neonatal severe, due to mecp2 mutations @@ -16150,260 +14596,229 @@ MONDO:0010398 syndromic X-linked intellectual disability 14 skos:closeMatch OMIM MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spm MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scapuloperoneal myopathy, x-linked dominant -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, x-linked dominant +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300695 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 6, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with postural muscle atrophy +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with postural muscle atrophy -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 6, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsw +MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adfn -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alds -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300700 MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300704 MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juberg-marsidi syndrome MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309590 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:600617 STAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label star -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:600617 STAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toe syndactyly, telecanthus, and anogenital and renal malformations -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300709 +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shrimpton type -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacioskeletal syndrome +MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300709 MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacioskeletal syndrome +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacioskeletal syndrome MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300712 -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rbmx1a +MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300717 MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rbmx1b +MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micpch syndrome -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and microcephaly with pontine and cerebellar hypoplasia -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300749 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and microcephaly with pontine and cerebellar hypoplasia MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micpch syndrome MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677897 MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300750 -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria, x-linked -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlepp +MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked dominant MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protoporphyria, erythropoietic, x-linked MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked dominant +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria, x-linked MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300752 -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlp -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlp -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, x-linked MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xla -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060360 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, x-linked +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia, x-linked +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300758 -MONDO:0010423 hypospadias 2, X-linked skos:closeMatch OMIM:300758 hypospadias 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hysp2 MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2ra deficiency -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdp4 -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2ra deficiency +MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300770 -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, lisch epithelial +MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749050 MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300778 -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 +MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749050 MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial corneal dystrophy, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, endothelial, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, endothelial, x-linked +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300799 MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300801 MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 -MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph8 +MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deep venous thrombosis, protection against +MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma, synovial +MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sarcoma, synovial MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039101 MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042863 MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300813 -MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma, synovial -MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sarcoma, synovial MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nys6 MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300816 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd6 +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, mitochondrial, x-linked MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300818 -MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnh1 -MONDO:0010440 autism, susceptibility to, X-linked 4 skos:closeMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autsx4 MONDO:0010440 autism, susceptibility to, X-linked 4 skos:closeMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp22 deletion syndrome -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 MONDO:0010441 CK syndrome skos:closeMatch OMIM:300831 ck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with thin body habitus and cortical malformation +MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 deletion syndrome +MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sox3-related MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxx3 MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300833 -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlanp MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, x-linked, with or without neutropenia and/or platelet abnormalities -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, x-linked, with or without neutropenia and/or platelet abnormalities +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia, high, with nonprogressive cone dysfunction MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch NCIT:C50367 Bed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3159311 MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia, high, with nonprogressive cone dysfunction -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch NCIT:C50367 Bed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bed MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq28 deletion syndrome, type 3.4-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mymy4 -MONDO:0010449 autism, susceptibility to, X-linked 5 skos:closeMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autsx5 -MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 +MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 -MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 92 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 +MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 92 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300853 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300854 -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rccx1 +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300853 MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300854 MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ogden syndrome +MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300855 MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:arylamine n-acetyltransferase -MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010457 Ogden syndrome skos:closeMatch NCIT:C129845 Arylamine N-Acetyltransferase 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hysp4 +MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 +MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs17 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with alacrima and achalasia -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300860 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, nascimento type -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsn +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300860 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsn MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:closeMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, hypogammaglobulinemia, and gait disturbance -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300864 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked cerebral-cerebellar-coloboma syndrome -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral-cerebellar-coloboma syndrome, x-linked +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300864 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral-cerebellar-coloboma syndrome, x-linked -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuk2 -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral-cerebellar-coloboma syndrome, x-linked MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300867 +MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300868 -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300869 -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.3-q28 duplication syndrome MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq27.3-q28 duplication syndrome -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.3-q28 duplication syndrome +MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300869 MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 +MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epsilon-trimethyllysine hydroxylase deficiency -MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autsx6 MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300882 -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls5 +MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300884 MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch NCIT:C142803 Developmental and Epileptic Encephalopathy 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300886 -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca2 -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 +MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300888 -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement +MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood +MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300894 MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300894 -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome, x-linked -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdox -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome, x-linked +MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome, x-linked +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome, x-linked MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300896 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300905 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt6x -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300908 MONDO:0010481 angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym angioneurotic edema MONDO:0010481 angioedema skos:exactMatch NCIT:C112175 Angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioedema @@ -16412,18 +14827,16 @@ MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch OMIM:300 MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnx6 MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops13 MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -16432,49 +14845,44 @@ MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch OMIM:300928 MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch OMIM:300934 congenital disorder of glycosylation, iia iy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked acrogigantism MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 microduplication syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq26.3 duplication syndrome -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly, x-linked -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita2 +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly, x-linked MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba14 -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca3 MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd5 MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 -MONDO:0010498 MEND syndrome skos:closeMatch OMIM:300960 mend syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male ebp disorder with neurologic defects -MONDO:0010498 MEND syndrome skos:closeMatch OMIM:300960 mend syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mend MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 +MONDO:0010498 MEND syndrome skos:closeMatch OMIM:300960 mend syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male ebp disorder with neurologic defects MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300963 MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300966 MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300967 MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300971 MONDO:0010504 immunodeficiency 47 skos:closeMatch OMIM:300972 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early balding, patella luxation, acromicria, and hypogonadism -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scholte syndrome MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scholte syndrome +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early balding, patella luxation, acromicria, and hypogonadism MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 -MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300979 +MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300984 MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300985 @@ -16487,1791 +14895,1605 @@ MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 36, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch OMIM:301000 wiskott-aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldrich syndrome +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047992 +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch OMIM:300392 WAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label was -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch OMIM:301000 wiskott-aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldrich syndrome -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch OMIM:300392 WAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym was -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047992 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301040 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845055 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrx +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, x-linked +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrx +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301040 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats -MONDO:0010520 X-linked Alport syndrome skos:closeMatch OMIM:301050 alport syndrome 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 +MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, with snow-capped teeth MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ai1e -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, with snow-capped teeth +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta type 3, hypoplastic type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmentary disorder, reticulate, with systemic manifestations, x-linked MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmentary disorder, reticulate, with systemic manifestations, x-linked -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, and spinocerebellar ataxia -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, and spinocerebellar ataxia -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 +MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmentary disorder, reticulate, with systemic manifestations, x-linked +MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, and spinocerebellar ataxia +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, and spinocerebellar ataxia MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked sideroblastic anemia and spinocerebellar ataxia -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 -MONDO:0010525 neural tube defects, X-linked skos:closeMatch OMIM:301410 neural tube defects, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, x-linked MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary dystopic lipidosis -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gla deficiency +MONDO:0010525 neural tube defects, X-linked skos:closeMatch OMIM:301410 neural tube defects, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, x-linked +MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301500 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016016 +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gla deficiency +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary dystopic lipidosis +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002986 -MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anosmia -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness syndrome, x-linked +MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844936 -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness syndrome, x-linked MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, infantile x-linked -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844934 +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked lethal infantile +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita, distal, x-linked +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked lethal infantile +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, infantile x-linked +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844934 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301835 -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 +MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, fatal x-linked, with deafness and loss of vision MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 -MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, fatal x-linked, with deafness and loss of vision +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-dementia syndrome, x-linked +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch OMIM:301845 bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bzx MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301845 MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406355 MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubulin, beta MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubulin, beta -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, epilepsy, and endocrine disorders +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch OMIM:301940 brachydactyly, mononen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs and great toes, short and abducted +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931060 +MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 +MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch OMIM:301940 brachydactyly, mononen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs and great toes, short and abducted MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844918 +MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial arch syndrome, x-linked MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial arch syndrome, x-linked MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302000 MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795974 -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calvarial hyperostosis MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302030 -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calvarial hyperostosis +MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis +MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, x-linked +MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barth syndrome -MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574083 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302060 -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch NCIT:C84585 Barth Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome -MONDO:0010544 cataract 40 skos:closeMatch OMIM:302200 cataract 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, x-linked +MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302200 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 +MONDO:0010544 cataract 40 skos:closeMatch OMIM:302200 cataract 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, x-linked MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-dental syndrome -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, x-linked, with hutchinsonian teeth MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesiodens-cataract syndrome -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhs +MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, x-linked, with hutchinsonian teeth +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:300457 NHS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhs -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:300457 NHS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nhs -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy, x-linked +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca, x-linked +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy, x-linked MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax1 MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement, early-onset MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt1x -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth peroneal muscular atrophy, x-linked -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844873 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth peroneal muscular atrophy, x-linked MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302801 +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844873 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302802 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844865 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844862 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpx1 -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita -MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cpxd -MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263627 MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked dominant chondrodysplasia punctata -MONDO:0010557 choroideremia skos:exactMatch OMIM:300390 CHM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chm +MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263627 MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008791 -MONDO:0010557 choroideremia skos:exactMatch OMIM:300390 CHM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chm MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008525 +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetochoroidal dystrophy, progressive MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303100 MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq21 deletion syndrome +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroideremia, deafness, and mental retardation +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq21 deletion syndrome MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844836 -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome +MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, aphasia, shuffling gait, and adducted thumbs -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, congenital clasped, with mental retardation -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb with mental retardation -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795953 +MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, congenital clasped, with mental retardation MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303400 -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch OMIM:612732 CPOX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch OMIM:303400 cleft palate with or without ankyloglossia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-lowry syndrome -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303650 +MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 -MONDO:0010563 blue cone monochromacy skos:closeMatch OMIM:303700 blue cone monochromacy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcm MONDO:0010563 blue cone monochromacy skos:closeMatch OMIM:303700 blue cone monochromacy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 5, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deuteranomaly -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, deutan series -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbd +MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym green colorblindness MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deutan colorblindness +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deuteranomaly +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, deutan series MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red colorblindness -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protanomaly MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, protan series -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbp -MONDO:0010565 red color blindness skos:closeMatch OMIM:600140 CREBBP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbp +MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protanomaly MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, protan series -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304030 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 -MONDO:0010568 Aicardi syndrome skos:closeMatch OMIM:304050 aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aic MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 MONDO:0010568 Aicardi syndrome skos:closeMatch OMIM:304050 aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with chorioretinal abnormality -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839909 -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, partial agenesis of, x-linked MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, partial agenesis of, x-linked MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, partial agenesis of, x-linked +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839909 +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch OMIM:304110 craniofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofrontonasal dysostosis MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciopalatoosseous syndrome +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch OMIM:304110 craniofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofrontonasal dysostosis +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opd2 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioorodigital syndrome -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ix, formerly +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciopalatoosseous syndrome MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds9, formerly +MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, occipital horn type, formerly +MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ix, formerly MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, x-linked, formerly -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohs -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304150 -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohs MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, occipital horn type, formerly -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgs +MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304150 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dandy-walker malformation, basal ganglia disorder, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch OMIM:304350 deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhs +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304350 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perilymphatic gusher-deafness syndrome +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, mixed, with perilymphatic gusher -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with stapes fixation -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perilymphatic gusher-deafness syndrome MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nance deafness -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnx1 MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2, sensorineural congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304500 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796074 MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mts -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-deafness syndrome +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-dystonia-optic atrophy syndrome -MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoids of cornea -MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnd -MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoids of cornea +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-deafness syndrome MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304730 -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islets of langerhans, absence of +MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoids of cornea +MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoids of cornea MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyendocrinopathy, immune dysfunction, and diarrhea, x-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodysregulation, polyendocrinopathy, and enteropathy, x-linked -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodysregulation, polyendocrinopathy, and enteropathy, x-linked -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-secretory diarrhea syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304790 +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islets of langerhans, absence of +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-secretory diarrhea syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodysregulation, polyendocrinopathy, and enteropathy, x-linked MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndi MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304950 MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with pancytopenia -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed +MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eda1 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, x-linked -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch NCIT:C141423 Ehlers-Danlos Syndrome, Type V semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type v -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268341 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 -MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch OMIM:305350 epidermodysplasia verruciformis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edv2 -MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch OMIM:305350 epidermodysplasia verruciformis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edvx +MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268341 MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305350 -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evrx -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr2 MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305390 +MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, x-linked -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evrx MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305400 -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oks -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opitz-kaveggia syndrome MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keller syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220769 -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:closeMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 +MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305550 MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844560 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdh -MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdh -MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh +MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016395 MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 +MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinal cell aplasia -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sertoli cell-only syndrome -MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sertoli cell-only syndrome -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sertoli cell-only syndrome MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305800 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesangiocapillary glomerulonephritis, x-linked MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:closeMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adp-ribose protein hydrolase deficiency -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder viii, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd9a1 -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd viii, formerly MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9a -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixa semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder viii, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd viii, formerly +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 9a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306400 -MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cgd -MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016080 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hema -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016080 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma thromboplastin component deficiency -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008533 MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b(m) MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b leyden -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemb -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f9 deficiency -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008533 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306950 -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym situs inversus, complex cardiac defects, and splenic defects, x-linked -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia with other cardiac malformations -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx1 MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laterality, x-linked -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:300265 ZIC3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx1 -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym situs inversus, complex cardiac defects, and splenic defects, x-linked MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia with other cardiac malformations MONDO:0010608 Hhhh syndrome skos:closeMatch OMIM:306960 hhhh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary hemihypotrophy hemiparesis hemiathetosis syndrome -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306990 MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch OMIM:306990 microhydranencephaly, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hycx -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsas1 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis, x-linked +MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306990 +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis, x-linked +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307010 MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844005 MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with cerebellar agenesis MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with cerebellar agenesis +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk1 deficiency +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gkd -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk1 deficiency -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcg +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htc2 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgh +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgh -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd3 +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia and isolated growth hormone deficiency, x-linked MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia and isolated growth hormone deficiency, x-linked +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism, male, with mental retardation and skeletal anomalies MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, male, with mental retardation and skeletal anomalies -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid glands, agenesis of -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypx -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, x-linked MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, x-linked -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked dominant hypophosphatemic rickets -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant hypophosphatemic rickets -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyp -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhr -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets, x-linked dominant +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, x-linked +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets, x-linked dominant MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, x-linked -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets, x-linked dominant +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant hypophosphatemic rickets +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked dominant hypophosphatemic rickets MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307830 -MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects +MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hemidysplasia with ichthyosiform erythroderma and limb defects -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265267 MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym placental steroid sulfatase deficiency +MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265267 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, x-linked MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sts deficiency MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid sulfatase deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym placental steroid sulfatase deficiency MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, x-linked -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked, complicated -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked, complicated +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rud syndrome +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruds +MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rud syndrome MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:closeMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpl115 deficiency MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch NCIT:C61244 CD40 Ligand Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd40 ligand deficiency MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperimmunoglobulin m syndrome -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch NCIT:C61244 CD40 Ligand Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd40 ligand deficiency -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlp -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xlp1 MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xlp1 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308300 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 -MONDO:0010631 incontinentia pigmenti skos:closeMatch OMIM:308300 incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ip +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xmesid -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym west syndrome, x-linked -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohtahara syndrome, x-linked -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohtahara syndrome, x-linked +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym west syndrome, x-linked MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris hypoplasia with glaucoma -MONDO:0010633 iris hypoplasia with glaucoma skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihg -MONDO:0010633 iris hypoplasia with glaucoma skos:closeMatch OMIM:146950 immune response to synthetic polypeptide--irhgal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihg -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmic hypogonadism -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism and anosmia MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh1 -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kms -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch NCIT:C75480 Kallmann Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism and anosmia +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:closeMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia-kallmann syndrome -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, x-linked +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, x-linked -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, x-linked MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis, dwarfism, and cerebral atrophy MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis, dwarfism, and cerebral atrophy +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis, dwarfism, and cerebral atrophy +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber hereditary optic neuropathy, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhon, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dl-ats +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome and diffuse leiomyomatosis MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyomatosis, diffuse, with alport syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 centromeric deletion syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308940 +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 centromeric deletion syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, diffuse, with alport syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dl-ats MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308950 MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute, x-linked MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute, x-linked +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylinositol type 4,5-bisphosphate type 5-phosphatase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocrl -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ocrl -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 -MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch OMIM:309120 spermatogenic failure, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgfx2 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylinositol type 4,5-bisphosphate type 5-phosphatase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309120 -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, x-linked MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, x-linked +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgc1 -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgcn +MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea +MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309300 -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mns +MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060908 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309350 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysplasty of melnick and needles MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309350 -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysplasty of melnick and needles MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027294 MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022716 +MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309480 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation and psoriasis MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and psoriasis -MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renpenning syndrome MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rens1 -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renpenning syndrome MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spastic diplegia +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309500 -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts -MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partington syndrome MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dystonic movements, ataxia, and seizures -MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partington syndrome -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington x-linked mental retardation syndrome +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington x-linked mental retardation syndrome MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309510 -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 +MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partington syndrome +MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partington syndrome MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lujan-fryns syndrome +MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lujan-fryns syndrome -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch OMIM:300522 IQSEC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iqsec2 -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch OMIM:300522 IQSEC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iqsec2 MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs12 -MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with fragile site fraxe -MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraxe mental retardation syndrome +MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 +MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraxe mental retardation syndrome +MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with fragile site fraxe MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, deafness, and seizures -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, deafness, and seizures MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795965 MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, deafness, and seizures +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, deafness, and seizures +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia and palmoplantar hyperkeratosis MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym juberg-marsidi syndrome -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation-hypotonic facies syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796160 MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309583 -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxssr MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309585 MONDO:0010665 Wilson-Turner syndrome skos:closeMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilson-turner x-linked mental retardation syndrome +MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prs MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prieto x-linked mental retardation syndrome +MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dysmorphism and cerebral atrophy MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 -MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prs -MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrsd +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, skeletal dysplasia, and abducens palsy MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, skeletal dysplasia, and abducens palsy -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 -MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mf4 MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 +MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 -MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia -MONDO:0010671 microphthalmia, syndromic 1 skos:narrowMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym syndromic microphthalmia type 4 semapv:RegularExpressionReplacement +MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca1 +MONDO:0010671 microphthalmia, syndromic 1 skos:narrowMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym syndromic microphthalmia type 4 semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:closeMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette syndrome, modifier of MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026705 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056889 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026705 MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:closeMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, progressive, involving shoulder girdle and back -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch OMIM:300377 DMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dmd MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310200 -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch OMIM:300377 DMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dmd MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, x-linked, formerly -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroperoneal neuromuscular disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroperoneal neuromuscular disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010681 myelolymphatic insufficiency skos:closeMatch OMIM:310350 myelolymphatic insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelger-like anomaly with leukopenia and susceptibility to infections MONDO:0010682 myoclonic epilepsy, progressive, X-linked skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310370 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnmx +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, x-linked -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, x-linked MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, x-linked -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, x-linked MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310440 -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931230 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839615 +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931230 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with excessive autophagy MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with excessive autophagy -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meax -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936859 -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 +MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936859 +MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xrn MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, x-linked MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, x-linked -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310490 MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, axonal motor-sensory, with deafness and mental retardation +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310490 MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nyctalopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, x-linked MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, with myopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310500 -MONDO:0010691 Norrie disease skos:closeMatch OMIM:300658 NDP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ndp -MONDO:0010691 Norrie disease skos:closeMatch OMIM:300658 NDP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndp MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd +MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069760 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 MONDO:0010691 Norrie disease skos:closeMatch NCIT:C118634 Norrie Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label norrie syndrome -MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd MONDO:0010692 nuclear ribonucleic acid skos:closeMatch OMIM:310650 nuclear ribonucleic acid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nrna -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile periodic alternating, x-linked -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile idiopathic, formerly +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile periodic alternating, x-linked MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, infantile, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nys1 +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310980 MONDO:0010697 ophthalmoplegia, external, and myopia skos:closeMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia-ophthalmoplegia syndrome -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839576 MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311050 -MONDO:0010698 optic atrophy 2 skos:closeMatch OMIM:311050 optic atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, non-leber type, with early onset +MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839576 MONDO:0010698 optic atrophy 2 skos:closeMatch OMIM:311050 optic atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, x-linked -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 +MONDO:0010698 optic atrophy 2 skos:closeMatch OMIM:311050 optic atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, non-leber type, with early onset MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311070 +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311200 MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510460 -MONDO:0010702 orofaciodigital syndrome I skos:exactMatch OMIM:300170 OFD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofd1 -MONDO:0010702 orofaciodigital syndrome I skos:exactMatch OMIM:300170 OFD1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ofd1 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311250 +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268542 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052450 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency, hyperammonemia due to +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311250 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ornithine transcarbamylase deficiency, hyperammonemia due to -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268542 -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otopalatodigital spectrum disorder +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency, hyperammonemia due to MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontootopalatodigital osteodysplasia MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311300 +MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otopalatodigital spectrum disorder MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof1 MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 -MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure, x-linked MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic ovarian failure, x-linked +MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure, x-linked MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with spastic diplegia MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 +MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister w syndrome MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pallister w syndrome -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with mental retardation -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsmn MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311510 -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311895 MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931064 -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with congenital heart malformation and clubfoot -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tarps +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839463 -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch OMIM:312000 panhypopituitarism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism iv, formerly -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch OMIM:312000 panhypopituitarism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phpx +MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 +MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava +MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with congenital heart malformation and clubfoot MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312000 +MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch OMIM:312000 panhypopituitarism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism iv, formerly +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312060 +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor properdin deficiency MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym properdin p factor deficiency -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfpd -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067610 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch OMIM:312080 pelizaeus-merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome, multiple, x-linked +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067610 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch OMIM:312080 pelizaeus-merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, x-linked +MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome, multiple, x-linked MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, x-linked MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with abnormal pyruvate metabolism +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-alpha deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdh deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with pyruvate dehydrogenase deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia, thiamine-responsive -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-alpha deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdh deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with abnormal pyruvate metabolism MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia, x-linked +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial aplasia, x-linked +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia, x-linked MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia and anogenital anomalies -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 MONDO:0010719 radiation sensitivity of natural killer activity skos:closeMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-ray nk sensitivity MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prd -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dysplasia, primary -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dysplasia, primary MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312550 -MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch OMIM:300757 RP2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp2 -MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch OMIM:300757 RP2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rp2 +MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dysplasia, primary +MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dysplasia, primary MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312600 -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlrs1 -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs1 +MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:300839 RS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs1 -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:300839 RS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rs1 -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:601966 RSC1A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs1 -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, zappella variant MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, atypical MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, preserved speech variant -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, dementia, ataxia, and loss of purposeful hand use -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtt MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312780 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym russell-silver-like syndrome with skin pigmentation MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312780 +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839321 -MONDO:0010728 SCARF syndrome skos:closeMatch OMIM:312830 scarf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities +MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 +MONDO:0010728 SCARF syndrome skos:closeMatch OMIM:312830 scarf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke x-linked mental retardation syndrome +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke x-linked mental retardation syndrome +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis with mental retardation, x-linked +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke x-linked mental retardation syndrome -MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xcid MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cidx -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgbs -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 +MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xcid +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym golabi-rosen syndrome MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931291 MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraparesis and deafness +MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sppx2 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839264 MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312920 MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2 semapv:RegularExpressionReplacement MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner syndrome-associated neurocognitive phenotype MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visuospatial/perceptual abilities -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kennedy spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal neuronopathy, x-linked recessive MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kennedy spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal muscular atrophy, x-linked -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068600 +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease skos:closeMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068600 MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313200 -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/split-foot anomaly, x-linked -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf2 +MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/split-foot anomaly, x-linked +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313350 -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedt -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed tarda, x-linked MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, late +MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed tarda, x-linked MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313400 -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796172 MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313420 +MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796172 MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, x-linked MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, x-linked -MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taqi polymorphism MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label taqi polymorphism -MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taq1 -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313500 -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthagx1 +MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taqi polymorphism MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313500 +MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midline defects, x-linked -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracoabdominal syndrome MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracoabdominal syndrome -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thas MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313850 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0559483 +MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313850 +MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 +MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracoabdominal syndrome MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc1 -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 -MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, intermittent MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked +MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, intermittent +MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 +MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 +MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia with beta-thalassemia, x-linked +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314050 -MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, x-linked MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314250 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, x-linked +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goeminne syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314300 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goeminne syndrome -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkcr -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkcr syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonocephaly with short stature and developmental delay MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly with short stature and developmental delay -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with lobster-claw deformity of feet MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with lobster-claw deformity of feet -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314390 -MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterlx MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h, x-linked -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 +MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314500 -MONDO:0010755 vesicoureteral reflux, X-linked skos:closeMatch OMIM:314550 vesicoureteral reflux, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vurx +MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 MONDO:0010756 Von Willebrand disease, X-linked form skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314560 MONDO:0010757 widow's peak syndrome skos:closeMatch OMIM:314570 widow's peak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym widows peak, ptosis, and skeletal anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 +MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265239 +MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314600 MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400004 -MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, y-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgfy1 +MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospermatogenesis -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome, y-linked MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400042 -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch NCIT:C166105 Hypospermatogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospermatogenesis MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incomplete sertoli cell-only syndrome -MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch NCIT:C166105 Hypospermatogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospermatogenesis +MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome, y-linked MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch OMIM:400044 46,xy sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex-reversing locus on x, formerly MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018054 MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936694 -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch OMIM:400044 46,xy sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex-reversing locus on x, formerly -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azf regions +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligozoospermia, nonobstructive, y-linked +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic arrest, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligospermia, nonobstructive, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgfy2 -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligozoospermia, nonobstructive, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:415000 +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia factor regions +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:415000 +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma MONDO:0010769 hairy ears, Y-linked skos:closeMatch OMIM:425500 hairy ears, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis pinnae auris, y-linked MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:closeMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ube1y -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, oncocytic +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, focal lipid MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, infantile histiocytoid MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile histiocytoid MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile xanthomatous -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsden syndrome +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, oncocytic +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial, with visual failure and striatal lucencies +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsden syndrome MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy with diabetes MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy with diabetes -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500002 +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile, mitochondrial MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis, mitochondrial -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile, mitochondrial MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 21, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 21, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome with neuromuscular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs-plus -MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome-plus +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs-plus +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome with neuromuscular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mitochondrial non-syndromic sensorineural deafness +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural, mitochondrial MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nonsyndromic sensorineural, mitochondrial -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mitochondrial non-syndromic neurosensory deafness -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mitochondrial non-syndromic sensorineural deafness MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial neurosensory deafness -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmit -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, infantile, transient +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory chain deficiency, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500009 MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500011 -MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlasa3 -MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloramphenicol resistance MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, chloramphenicol-induced +MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloramphenicol resistance MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niddm with deafness -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes and deafness, maternally inherited MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus with deafness -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-deafness syndrome, maternally transmitted +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and deafness, maternally inherited -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes and deafness, maternally inherited +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-deafness syndrome, maternally transmitted MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838912 MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520100 -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea, chronic, with villous atrophy MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, chronic, with villous atrophy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia-plus syndrome -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kss -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic progressive external ophthalmoplegia with myopathy +MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea, chronic, with villous atrophy MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial cytopathy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with myopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with ragged-red fibers +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic progressive external ophthalmoplegia with myopathy MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocraniosomatic syndrome +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia-plus syndrome +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048804 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:530000 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:530000 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048804 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with myopathy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with ragged-red fibers -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:535000 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917796 -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melas +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:535000 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162671 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 -MONDO:0010789 MELAS syndrome skos:closeMatch OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melas -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:540000 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 +MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:540000 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053872 MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 -MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merrf MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label merrf -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 +MONDO:0010790 MERRF syndrome skos:closeMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:550500 -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, lethal, infantile -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, lethal, infantile -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838876 +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, lethal, infantile +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, lethal, infantile +MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328349 MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062940 -MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, ataxia, and retinitis pigmentosa -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 +MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:557000 MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 MONDO:0010797 Pearson syndrome skos:closeMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction -MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubulopathy, diabetes mellitus, and cerebellar ataxia +MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubulopathy, diabetes mellitus, and cerebellar ataxia +MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubulopathy, diabetes mellitus, and cerebellar ataxia MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:580000 MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym didmoad syndrome, mitochondrial form +MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocamptodactyly MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocamptodactyly -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600000 -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with cervical platyspondyly MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis and congenital heart defects MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart defects, congenital, and other congenital anomalies -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdca -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart defects, congenital, and other congenital anomalies +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838779 MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600002 -MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone modeling defect of hands and feet MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eiken skeletal dysplasia -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005689 +MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone modeling defect of hands and feet MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bladder exstrophy and epispadias complex MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bladder exstrophy and epispadias complex MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exstrophy of bladder +MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 +MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005689 +MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600059 -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600060 -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb2 -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffi -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insomnia, fatal familial -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072077 -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600072 -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insomnia, fatal familial +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia MONDO:0010808 fatal familial insomnia skos:closeMatch NCIT:C84711 Fatal Familial Insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelocytic leukemia-like syndrome, familial, chronic +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatal familial insomnia MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelocytic leukemia-like syndrome, familial, chronic MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cml-like syndrome, familial -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vddr1b +MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelocytic leukemia-like syndrome, familial, chronic MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudovitamin d3 deficiency rickets due to type 25-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxyvitamin d3 deficiency, selective MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostatic hyperplasia, benign MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostatic hyperplasia, benign -MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bph MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838654 MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600092 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puerto rican infant hypotonia syndrome MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600096 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label puerto rican infant hypotonia syndrome +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puerto rican infant hypotonia syndrome +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 +MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna2a -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without preserved paraarteriole retinal pigment epithelium -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without pprpe -MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600110 +MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 +MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium MONDO:0010819 Stargardt disease 3 skos:closeMatch OMIM:600110 stargardt disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt-like macular dystrophy, autosomal dominant -MONDO:0010819 Stargardt disease 3 skos:closeMatch OMIM:600110 stargardt disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd3 +MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600110 +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with diurnal fluctuation MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park2 -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with diurnal fluctuation MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysphasia, familial developmental MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysphasia, familial developmental MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838630 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micro syndrome MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micro syndrome MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Disorder of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes syndrome -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600123 -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838606 -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect with blepharophimosis and anal and radial defects +MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Disorder of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect with blepharophimosis and anal and radial defects -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect with blepharophimosis and anal and radial defects +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838606 +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600123 MONDO:0010826 childhood absence epilepsy skos:closeMatch NCIT:C50436 Petit Mal Seizure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label petit mal seizure -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612269 -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600131 -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0010826 childhood absence epilepsy skos:exactMatch NCIT:C128189 Childhood Absence Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600132 MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600138 -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrovascular disorder with thin skin, alopecia, and disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838577 MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600142 -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:607837 CLN8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln8 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:607837 CLN8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln8 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C118455 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sirenomelia +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 -MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C99054 Sacral Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C118455 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia +MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C99054 Sacral Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral defect with anterior meningocele MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600151 -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600155 -MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hscr2 MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600156 MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli and mental retardation with facial and digital anomalies MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium colli and mental retardation with facial and digital anomalies -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600159 -MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal dominant MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, simple, autosomal dominant -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos with high hyperopia and angle-closure glaucoma +MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, congenital benign, with contractures MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, congenital nonprogressive -MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn8 MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600175 -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation and seizures -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838491 -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation and seizures MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 +MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcm1 -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600195 +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous malformations, multiple cutaneous and mucosal +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600195 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous malformations, multiple cutaneous and mucosal -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations MONDO:0010843 dyslexia, susceptibility to, 2 skos:closeMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch OMIM:600204 epiphyseal dysplasia, multiple, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edm2 MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600204 MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600209 MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752122 +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600223 -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600224 MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752123 MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement +MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600224 MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch OMIM:600231 palmoplantar keratoderma, bothnian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkb MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600231 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oblfc1 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 +MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600252 -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 +MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:closeMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bor-duane hydrocephalus contiguous gene syndrome -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oes -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with epibulbar dermoids MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600268 MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838329 +MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with epibulbar dermoids +MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oes MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stale +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600269 MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short tarsus with absence of lower eyelashes MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short tarsus with absence of lower eyelashes -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600269 MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838328 -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkdts -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkdts -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600273 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftd -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600273 +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tau inclusions -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disinhibition-dementia-parkinsonism-amyotrophy complex -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pick complex +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftdp17 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pick complex MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld with tau inclusions -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftd -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobe dementia +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch OMIM:600302 fryns macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with spastic paraplegia and distinctive craniofacial appearance -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600302 MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838281 +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600302 MONDO:0010859 atrioventricular septal defect 3 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600309 -MONDO:0010859 atrioventricular septal defect 3 skos:closeMatch OMIM:600309 atrioventricular septal defect 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd3 -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb3 -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement MONDO:0010861 type 1 diabetes mellitus 3 skos:closeMatch OMIM:600318 iia 1 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010862 type 1 diabetes mellitus 4 skos:closeMatch OMIM:600319 iia 1 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010863 type 1 diabetes mellitus 5 skos:closeMatch OMIM:600320 iia 1 diabetes mellitus 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010864 type 1 diabetes mellitus 7 skos:closeMatch OMIM:600321 iia 1 diabetes mellitus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminopterin syndrome sine aminopterin +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aminopterin syndrome sine aminopterin +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminopterin syndrome sine aminopterin MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795939 -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838258 -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and infantile neuroaxonal dystrophy MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis and infantile neuroaxonal dystrophy -MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and infantile neuroaxonal dystrophy +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838258 +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 +MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600332 -MONDO:0010868 rippling muscle disease 1 skos:exactMatch OMIM:611871 RMDN1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rmd1 -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600334 MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838244 MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial muscular dystrophy, tardive +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838244 +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial muscular dystrophy, tardive -MONDO:0010870 tibial muscular dystrophy skos:exactMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tmd +MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial muscular dystrophy, tardive +MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600334 MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bh +MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600348 -MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band heterotopia +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600360 +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt with pyramidal features +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with pyramidal features, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn5 MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroneal muscular atrophy with pyramidal features, autosomal dominant -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600361 -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with pyramidal features, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838192 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838192 +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010879 CODAS syndrome skos:closeMatch OMIM:600373 codas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral, ocular, dental, auricular, and skeletal anomalies syndrome +MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600373 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600373 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838180 -MONDO:0010879 CODAS syndrome skos:closeMatch OMIM:600373 codas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral, ocular, dental, auricular, and skeletal anomalies syndrome -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht2 MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, syndromic +MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, syndromic MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600383 +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838161 MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600384 -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pectus excavatum, macrocephaly, short stature, and dysplastic nails -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectus excavatum, macrocephaly, short stature, and dysplastic nails MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600399 MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931302 +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectus excavatum, macrocephaly, short stature, and dysplastic nails +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pectus excavatum, macrocephaly, short stature, and dysplastic nails MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600416 -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-mental retardation syndrome -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931817 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch NCIT:C129021 Chromosome 2q37 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600457 MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, anterior cervical MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, anterior cervical +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600457 MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838122 MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial dissection with lentiginosis MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arterial dissection with lentiginosis -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccge -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, cardiac defect, genital anomalies, and ectrodactyly -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defect, genital anomalies, and ectrodactyly -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600460 -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defect, genital anomalies, and ectrodactyly +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, cardiac defect, genital anomalies, and ectrodactyly MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities -MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs4 +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600467 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs4 MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600496 -MONDO:0010895 ABCD syndrome skos:closeMatch OMIM:600501 abcd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abcds MONDO:0010895 ABCD syndrome skos:closeMatch OMIM:600501 abcd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigment dispersion syndrome -MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigment dispersion syndrome MONDO:0010896 pigment dispersion syndrome skos:closeMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma-related pigment dispersion syndrome +MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigment dispersion syndrome MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 3 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etl1 +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant lateral temporal lobe epilepsy -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600513 -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833607 -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600559 MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, endocardial fibroelastosis, and cataracts MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, endocardial fibroelastosis, and cataracts -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833603 -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600561 +MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833607 +MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600559 MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with atlantoaxial instability MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with atlantoaxial instability -MONDO:0010903 craniosynostosis, Adelaide type skos:closeMatch OMIM:600593 craniosynostosis, adelaide iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crsa +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833603 +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600561 MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch OMIM:600624 cone-rod dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crd1 MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600624 -MONDO:0010906 orofacial cleft 11 skos:closeMatch OMIM:600625 orofacial cleft 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc11 -MONDO:0010906 orofacial cleft 11 skos:closeMatch OMIM:600625 orofacial cleft 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, congenital healed MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600625 -MONDO:0010907 familial hypertryptophanemia skos:closeMatch OMIM:600627 hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertryptophanemia, familial -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 -MONDO:0010907 familial hypertryptophanemia skos:closeMatch OMIM:600627 hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyptrp -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 +MONDO:0010906 orofacial cleft 11 skos:closeMatch OMIM:600625 orofacial cleft 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, congenital healed MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch OMIM:600627 hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertryptophanemia, familial MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406468 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600628 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 -MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loose anagen hair syndrome +MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406468 MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loose anagen hair syndrome -MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch OMIM:600630 uv-sensitive syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvss1 -MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600630 +MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loose anagen hair syndrome MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600630 +MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010910 enuresis, nocturnal, 1 skos:closeMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bedwetting +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom3a MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom3 locus -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833541 +MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 +MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162510 -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600643 +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833541 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600643 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 -MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, hepatic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency with hypoketotic hypoglycemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency with hypoketotic hypoglycemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, infantile -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, hepatic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna4a +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600652 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600666 MONDO:0010917 chondrocalcinosis 1 skos:closeMatch OMIM:600668 chondrocalcinosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis with early-onset osteoarthritis MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600668 -MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 +MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label anotia -MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoid cysts, familial frontonasal -MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cysts, familial frontonasal +MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600679 MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833473 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cysts, familial frontonasal +MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoid cysts, familial frontonasal MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833454 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 MONDO:0010922 Satoyoshi syndrome skos:closeMatch OMIM:600705 satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600706 -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d2hga MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement +MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600736 MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velofacioskeletal syndrome MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velofacioskeletal syndrome -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 -MONDO:0010929 craniosynostosis 4 skos:closeMatch OMIM:600775 craniosynostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs4 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600776 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833339 +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch OMIM:600776 fryns microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-plus syndrome -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vddr2b MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chorioretinal atrophy, progressive bifocal MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600790 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chorioretinal atrophy, progressive bifocal -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chorioretinal atrophy, progressive bifocal MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833321 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chorioretinal atrophy, progressive bifocal +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb4 -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600802 MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbd1 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600802 MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholelithiasis, low phospholipid-associated MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, protection against MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, bronchial +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma, susceptibility to MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, susceptibility to -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, protection against -MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enur2 -MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010943 schizophrenia 4 skos:closeMatch OMIM:600850 schizophrenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q11-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010944 mitochondrial import-stimulating factor skos:closeMatch OMIM:600851 mitochondrial import-stimulating factor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msf MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600852 MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -18279,333 +16501,294 @@ MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari synd MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600880 -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdchs MONDO:0010947 Budd-Chiari syndrome skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous obstruction of inferior vena cava MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856761 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital zonular, with sutural opacities MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital zonular, with sutural opacities +MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600882 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833219 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010950 type 1 diabetes mellitus 8 skos:closeMatch OMIM:600883 iia 1 diabetes mellitus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600884 -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperferritinemia with or without cataract -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia-cataract syndrome -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrftc MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia, hereditary, with congenital cataracts +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia-cataract syndrome +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia with or without cataract MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833213 -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600886 -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch OMIM:613976 FANCE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fance MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C13071 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch OMIM:613976 FANCE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fance +MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C126364 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C126364 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group e +MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600903 MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, arachnodactyly, and congenital contractures -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker-like syndrome without psychomotor retardation MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833136 +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker-like syndrome without psychomotor retardation +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, arachnodactyly, and congenital contractures MONDO:0010960 protocadherin 3 skos:closeMatch OMIM:600931 protocadherin 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcdh3 -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity and endocrinopathy due to impaired processing of prohormones -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity and endocrinopathy due to impaired processing of prohormones +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, nonepidermolytic palmoplantar -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neppk +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkne -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna6 MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600965 -MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edm3 -MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 3, with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600969 +MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 3, with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb6 -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1b MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 -MONDO:0010966 achondrogenesis type IB skos:closeMatch OMIM:600972 achondrogenesis, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acg1b -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb7 -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement +MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1b MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600974 +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600975 MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary congenital glaucoma MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600977 -MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpcmr MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation -MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infundibulopelvic dysgenesis +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infundibulopelvic dysgenesis -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, sprengel anomaly, and costovertebral dysplasia +MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infundibulopelvic dysgenesis MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, sprengel anomaly, and costovertebral dysplasia +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, sprengel anomaly, and costovertebral dysplasia MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600991 -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna5 -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600994 MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs2 -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:604766 NPHS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs2 +MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:604766 NPHS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nphs2 -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch OMIM:600996 arrhythmogenic right ventricular dysplasia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch OMIM:600996 arrhythmogenic right ventricular dysplasia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 +MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601001 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 -MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601003 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832918 +MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 +MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome with syndactyly -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lqt8 MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome with syndactyly MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 -MONDO:0010979 Timothy syndrome skos:exactMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ts +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lqt8 MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:closeMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dincsoy syndrome -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601027 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies -MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity -MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis/spasticity, episodic -MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cse choreoathetosis, paroxysmal, with episodic ataxia +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601027 +MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832855 MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal dystonic choreathetosis with episodic ataxia and spasticity -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 +MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity +MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cse choreoathetosis, paroxysmal, with episodic ataxia +MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis/spasticity, episodic +MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 MONDO:0010984 Usher syndrome type 1D skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601068 -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb9 -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601071 -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb8 -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, childhood-onset neurosensory, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601072 -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, childhood-onset neurosensory, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601075 -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, high myopia, and cone-rod dysfunction -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym murcs -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil deformity, conductive deafness, and absent vagina +MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction +MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601075 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil deformity, conductive deafness, and absent vagina MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 MONDO:0010991 laterality defects, autosomal dominant skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601086 +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601088 MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ayme-gripp syndrome MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ayme-gripp syndrome -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aygrp MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601088 MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601095 -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601098 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270913 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 +MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601098 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601101 -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch OMIM:601101 telangiectasia, hereditary hemorrhagic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht3 MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psp -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psp -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psnp1 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg id -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601110 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832736 -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601127 +MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601110 MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832735 -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fallot complex with severe mental and growth retardation +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601127 MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fallot complex with severe mental and growth retardation +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fallot complex with severe mental and growth retardation MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gc-e -MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2ep MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2d, mouse, homolog of -MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2e +MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gc-e MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome -MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome -MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601144 MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 +MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601144 MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 6a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601154 MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601160 -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts with motor neuronopathy, short stature, and skeletal abnormalities -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601162 MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic defects, limb deficiencies, and ossification defects of skull +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601162 MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defects, limb deficiencies, and ossification defects of skull -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym froster syndrome +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic defects, limb deficiencies, and ossification defects of skull MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601163 -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym froster syndrome MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931750 MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601165 -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia/microphthalmia and pulmonary hypoplasia MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832661 -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia/microphthalmia and pulmonary hypoplasia -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601187 -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gurrieri syndrome MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gurrieri syndrome +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gurrieri syndrome +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601187 MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 African iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601195 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, familial -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1, with bartter syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric hypocalcemia -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1, with bartter syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, familial +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch OMIM:601200 pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266144 -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome MONDO:0011014 pleuropulmonary blastoma skos:closeMatch OMIM:601200 pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome -MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 +MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011015 cataract 24 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 +MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 MONDO:0011016 type 1 diabetes mellitus 11 skos:closeMatch OMIM:601208 iia 1 diabetes mellitus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy +MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601214 -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, palmoplantar keratoderma, and cardiac abnormalities +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch OMIM:601216 dental anomalies and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601216 +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch OMIM:601216 dental anomalies and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601217 +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis and oculocutaneous hypopigmentation syndrome -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ooch MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis and oculocutaneous hypopigmentation syndrome -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect11 syndrome -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601230 -MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch OMIM:601230 dermatitis herpetiformis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dh -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch OMIM:608179 ATCAY semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atcay MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch OMIM:608179 ATCAY semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atcay -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch OMIM:601238 cerebellar ataxia, cayman iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atcay +MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601277 +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:closeMatch OMIM:601283 iia 2 diabetes mellitus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2f MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601287 @@ -18613,949 +16796,838 @@ MONDO:0011029 myeloid tumor suppressor skos:closeMatch OMIM:601308 myeloid tumor MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:closeMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebcr MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna10 MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601316 -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement +MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna11 MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601317 MONDO:0011033 type 1 diabetes mellitus 13 skos:closeMatch OMIM:601318 iia 1 diabetes mellitus 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 +MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan-neurofibromatosis syndrome MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis with noonan phenotype -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porencephaly, cerebellar hypoplasia, and internal malformations -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832472 MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 -MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:closeMatch OMIM:601331 renal dysplasia, cystic, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cysrd -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capos -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porencephaly, cerebellar hypoplasia, and internal malformations MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601338 -MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym varioliform macular atrophy of the skin +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophia maculosa varioliformis cutis, familial +MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym varioliform macular atrophy of the skin MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrophia maculosa varioliformis cutis, familial -MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amvc -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832444 +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 MONDO:0011042 Martinez-Frias syndrome skos:closeMatch OMIM:601346 martinez-frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula +MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832440 -MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601350 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832439 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832438 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601351 -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, epilepsy, and coarse face -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, epilepsy, and coarse face +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795941 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601353 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachycephaly, deafness, cataract, microstomia, and mental retardation -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601355 +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aclh -MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, cleft lip, and holoprosencephaly -MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, forebrain defects, and facial clefts MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachial amelia, cleft lip, and holoprosencephaly -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sparse hair and mental retardation -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nicolaides-baraitser syndrome +MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, forebrain defects, and facial clefts +MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, cleft lip, and holoprosencephaly MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sparse hair and mental retardation +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ncbrs -MONDO:0011054 autosomal recessive amelia skos:closeMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelia, autosomal recessive -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601360 +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832432 -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601360 +MONDO:0011054 autosomal recessive amelia skos:closeMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelia, autosomal recessive +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601362 MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832431 -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 -MONDO:0011056 Wilms tumor 4 skos:closeMatch OMIM:601363 wilms tumor 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial wilms tumor type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011056 Wilms tumor 4 skos:closeMatch OMIM:601363 wilms tumor 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt4 MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601363 +MONDO:0011056 Wilms tumor 4 skos:closeMatch OMIM:601363 wilms tumor 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial wilms tumor type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebral infarction -MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cerebral infarction MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrovascular accident MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C3390 Stroke semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stroke -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna9 +MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cerebral infarction MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601369 +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, semilobar, with craniosynostosis -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601370 +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832424 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related nuclear -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, age-related nuclear MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuclear sclerosis of the lens -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832412 -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 +MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, age-related nuclear MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly and cerebellar dysgenesis MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly and cerebellar dysgenesis -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832412 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal, with long bone angulation and mixed bone density MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia, lethal, with long bone angulation and mixed bone density -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hunter-mcalpine craniosynostosis syndrome -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine craniosynostosis syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine craniosynostosis syndrome +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832399 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601382 -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832399 +MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb12 MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601386 -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement MONDO:0011068 type 1 diabetes mellitus 12 skos:closeMatch OMIM:601388 iia 1 diabetes mellitus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrofacioarticular syndrome MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrofacioarticular syndrome MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmlds1 +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrofacioarticular syndrome +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832388 MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm1 -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmtn -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601410 MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmtn +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm1 MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna7 -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601414 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desminopathy, primary MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect and muscular dystrophy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, desmin-related +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, desmin-related +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desminopathy, primary +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm1 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601427 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832362 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832359 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, progressive, with stapes fixation +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, progressive, with stapes fixation -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601449 -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, progressive, with stapes fixation MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601449 MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism +MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832352 +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal syndrome MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal dysplasia -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832352 -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601453 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406724 -MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia +MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601453 +MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodental dysplasia -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 +MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 +MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-negative, nk cell-positive -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 +MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832322 +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to complete rag1/2 deficiency +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-negative, nk cell-positive MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms iia, formerly -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 -MONDO:0011089 patent ductus venosus skos:closeMatch OMIM:601466 patent ductus venosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdv +MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011089 patent ductus venosus skos:closeMatch OMIM:601466 patent ductus venosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym portosystemic venous shunt, congenital MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832274 MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601472 MONDO:0011092 ribbing disease skos:closeMatch OMIM:601477 ribbing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal sclerosis, multiple -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601492 -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1c MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832241 MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601499 -MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc1 -MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601518 MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prca1 -MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosley-salih-alorainy syndrome -MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abds +MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601518 MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosley-salih-alorainy syndrome -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 +MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosley-salih-alorainy syndrome MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd1b +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (nald/ird) +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy, autosomal neonatal +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (nald/ird) -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601543 -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna12 +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601543 MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna3a +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601549 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832167 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601552 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdlab -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, congenital, with juvenile macular dystrophy MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601553 -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis, congenital, with juvenile macular dystrophy -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, congenital, with juvenile macular dystrophy MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia with robin phenotype -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832112 -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with robin phenotype +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssegmental dysplasia with glaucoma MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia with glaucoma -MONDO:0011112 Wilms tumor 5 skos:closeMatch OMIM:601583 wilms tumor 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, susceptibility to -MONDO:0011112 Wilms tumor 5 skos:closeMatch OMIM:601583 wilms tumor 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wt5 MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601583 +MONDO:0011112 Wilms tumor 5 skos:closeMatch OMIM:601583 wilms tumor 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, susceptibility to MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601596 +MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275122 -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 +MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601612 -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mardini-nyhan association -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacht MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis, congenital heart defects, and thumb anomalies syndrome MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung agenesis, congenital heart defects, and thumb anomalies syndrome -MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruffles and cysts of iris pigment epithelium +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mardini-nyhan association MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cysts of iris pigment epithelium -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, folate-sensitive -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntdfs +MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruffles and cysts of iris pigment epithelium +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntd, folate-sensitive -MONDO:0011121 paragangliomas 2 skos:closeMatch OMIM:601650 paragangliomas 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl2 +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, folate-sensitive MONDO:0011121 paragangliomas 2 skos:closeMatch OMIM:601650 paragangliomas 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601650 -MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity -MONDO:0011122 obesity disorder skos:narrowMatch ICD10WHO:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011122 obesity disorder skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity MONDO:0011122 obesity disorder skos:narrowMatch ICD10CM:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity +MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity +MONDO:0011122 obesity disorder skos:narrowMatch ICD10WHO:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011123 type 1 diabetes mellitus 15 skos:closeMatch OMIM:601666 iia 1 diabetes mellitus 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with abnormal dentition MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with abnormal dentition -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdad MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866507 MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601668 -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd1 -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay syndrome MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with hair abnormality and mental and growth retardation -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy with congenital ichthyosis -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 1, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 1, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay syndrome +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy with congenital ichthyosis MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, photosensitive -MONDO:0011126 acute insulin response skos:closeMatch NCIT:C73434 Air semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label air +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 1, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011126 acute insulin response skos:closeMatch OMIM:601676 acute insulin response semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym air -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 +MONDO:0011126 acute insulin response skos:closeMatch NCIT:C73434 Air semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label air MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym freeman-sheldon syndrome variant +MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sheldon-hall syndrome +MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sheldon-hall syndrome -MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc1c -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alves syndrome -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichooculodermovertebral syndrome +MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym todv syndrome -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis and ectodermal dysplasia +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alves syndrome +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichooculodermovertebral syndrome MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601701 MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601705 -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601706 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866425 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curry-jones syndrome -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866425 +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601706 MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crjs +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curry-jones syndrome MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601707 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866423 -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 quebec semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym qpd +MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 +MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601718 MONDO:0011139 preaxial hallucal polydactyly skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601759 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type 1 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musculocontractural eds MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc1 MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601777 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln6 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:606725 CLN6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln6 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:606725 CLN6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln6 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma-obesity-hypogenitalism-mental retardation syndrome -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma-obesity-hypogenitalism-mental retardation syndrome +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601794 MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pks +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma-obesity-hypogenitalism-mental retardation syndrome +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma-obesity-hypogenitalism-mental retardation syndrome +MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265449 MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601803 -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265449 -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 18q- syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866182 MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601812 -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch OMIM:601812 premature aging syndrome, penttinen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pentt +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866182 MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601813 -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch OMIM:601813 exudative vitreoretinopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr4 MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601815 MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -MONDO:0011152 PHGDH deficiency skos:closeMatch OMIM:601815 phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phgdhd -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf2 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, persistent +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, persistent MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866168 -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 MONDO:0011155 vacuolar Neuromyopathy skos:closeMatch OMIM:601846 vacuolar neuromyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gomez-lopez-hernandez syndrome -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomez-lopez-hernandez syndrome +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomez-lopez-hernandez syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601853 -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glhs MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alps -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alps -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch NCIT:C37864 Autoimmune Lymphoproliferative Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch NCIT:C37864 Autoimmune Lymphoproliferative Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601868 -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna13 -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb15 MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601869 -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011161 sperm-specific antigen 1 skos:closeMatch OMIM:601876 sperm-specific antigen 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssfa1 MONDO:0011161 sperm-specific antigen 1 skos:closeMatch OMIM:601876 sperm-specific antigen 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fertilization antigen type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cae3 -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601885 -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs5 +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs5 MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601887 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs6 -MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs6 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601888 -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gfnd2 -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibronectin glomerulopathy +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, cardiac septal defects, and characteristic facies -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, atrial septal defect, and characteristic facies +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601927 -MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011168 type 1 diabetes mellitus 10 skos:closeMatch OMIM:601942 iia 1 diabetes mellitus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601954 -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontotrichoungual-digital-palmar syndrome MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontotrichoungual-digital-palmar syndrome MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontotrichoungual-digital-palmar syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 -MONDO:0011173 thrombocythemia 2 skos:closeMatch OMIM:601977 thrombocythemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thcyt2 MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601992 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia with secondary hypocalcemia MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia with secondary hypocalcemia +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, intestinal, with secondary hypocalcemia MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homg MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602014 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865974 -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, intestinal, with secondary hypocalcemia -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602032 MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch OMIM:602032 ectodermal dysplasia 4, hair/nail iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd4 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile convulsions and paroxysmal choreoathetosis, familial -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602032 MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile convulsions and paroxysmal choreoathetosis, familial +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile convulsions and paroxysmal choreoathetosis, familial MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865926 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile convulsions and paroxysmal choreoathetosis, familial MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, autosomal recessive -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom2 MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom2 locus -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trimethylaminuria -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fish-odor syndrome -MONDO:0011182 trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmau -MONDO:0011182 trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmau +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trimethylaminuria +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trimethylaminuria -MONDO:0011183 Paget disease of bone 2, early-onset skos:closeMatch OMIM:602080 paget disease of bone 2, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdb2 -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011184 childhood apraxia of speech skos:exactMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas -MONDO:0011184 childhood apraxia of speech skos:exactMatch OMIM:602941 BCAR1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas -MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spch1 +MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:604649 TBCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tbcd +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602082 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, honeycomb-shaped -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdtb -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:604649 TBCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tbcd -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 -MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch OMIM:602085 polydactyly, postaxial, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa2 +MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602085 -MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602086 MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602086 MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602087 -MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011190 nephronophthisis 2 skos:exactMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nph2 +MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:602088 nephronophthisis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 -MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:602088 nephronophthisis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb18a -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602092 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement -MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602092 MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy -MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod3 +MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 -MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad5 MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad5 MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602096 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 +MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602099 -MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary thermosensitive MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary thermosensitive +MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary thermosensitive MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865856 MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602107 +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal anadysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602114 MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion dystonia, focal adult-onset +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt7 MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical dystonia, primary -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia -MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa syndrome MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865794 +MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 +MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia +MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa syndrome MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia, mild MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia related to campomelic dysplasia MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602196 MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:closeMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckat deficiency MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602247 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch OMIM:602248 malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papulosis, malignant atrophic -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch OMIM:602248 malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papulosis, malignant atrophic MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, axial MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd, axial +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, axial MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axial smd MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, axial MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865695 -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdax -MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierpont syndrome +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome -MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prpts MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar lipomatosis, unusual facies, and developmental delay -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome +MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierpont syndrome MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602342 +MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdr3 deficiency -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 -MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcleb -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 -MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym habrodysplasia MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602361 +MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia, lethal, with gracile bones -MONDO:0011216 hemochromatosis type 2A skos:closeMatch OMIM:602390 hemochromatosis, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, juvenile +MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym habrodysplasia MONDO:0011216 hemochromatosis type 2A skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602390 +MONDO:0011216 hemochromatosis type 2A skos:closeMatch OMIM:602390 hemochromatosis, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, juvenile MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602398 MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865596 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arci11 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with hypotrichosis, autosomal recessive +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406715 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602401 -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd8 MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602404 -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602433 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865409 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, distal hereditary motor, with pyramidal features -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069681 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602440 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, monomelic -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, nonprogressive -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs-scid +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069681 MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with sensitivity to ionizing radiation MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, partial MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan-type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athabaskan severe combined immunodeficiency -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, athabascan type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs-scid MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabascan type -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602450 -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna15 -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, athabascan type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with sensitivity to ionizing radiation MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sams -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865361 MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602471 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, ethylmalonic -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, ethylmalonic +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865361 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865349 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ee +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, ethylmalonic +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, ethylmalonic MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ossification of the posterior longitudinal ligament of spine MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossification of the posterior longitudinal ligament of spine MONDO:0011231 febrile seizures, familial, 2 skos:closeMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhm2 MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial basilar MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 +MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior chamber cleavage syndrome MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label axenfeld anomaly +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rieger anomaly -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior chamber cleavage syndrome -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcnd1 MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears syndrome MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602483 -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic hypoplasia with lower-limb arthrogryposis -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears syndrome +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602484 MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865294 -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Hyperinsulinism due to glucokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602485 -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic hypoplasia with lower-limb arthrogryposis MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf3 -MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Hyperinsulinism due to glucokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602485 MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangic chondrodysplasia punctata MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrophthalmia, colobomatous, with microcornea -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macom -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrophthalmia, colobomatous, with microcornea -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch OMIM:609058 MMUT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcm +MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly-cutis marmorata telangiectatica congenita MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-cutis marmorata telangiectatica congenita MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602501 MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-capillary malformation -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly-cutis marmorata telangiectatica congenita -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-cutis marmorata telangiectatica congenita -MONDO:0011242 Bartter disease type 4a skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, neonatal, with sensorineural deafness -MONDO:0011242 Bartter disease type 4a skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness with mild renal dysfunction -MONDO:0011242 Bartter disease type 4a skos:exactMatch OMIM:606412 BSND semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bsnd -MONDO:0011242 Bartter disease type 4a skos:exactMatch OMIM:606412 BSND semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bsnd -MONDO:0011242 Bartter disease type 4a skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 -MONDO:0011242 Bartter disease type 4a skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865267 -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 -MONDO:0011243 grange syndrome skos:closeMatch OMIM:602531 grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grng +MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness with mild renal dysfunction +MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, neonatal, with sensorineural deafness +MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 +MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 MONDO:0011243 grange syndrome skos:closeMatch OMIM:602531 grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial occlusive disorder, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrshss -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome +MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 +MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865267 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602535 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall-smith syndrome -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hid syndrome -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosis, hystrix-like, with deafness -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with mitochondrial structural abnormalities -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdcmc +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosis, hystrix-like, with deafness +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hid syndrome MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602541 MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865233 -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865208 -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602553 +MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with mitochondrial structural abnormalities MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal atresia, hypospadias, and penoscrotal inversion MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal atresia, hypospadias, and penoscrotal inversion +MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865208 +MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602553 MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602554 -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865185 -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdsh -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602558 +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865184 -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with macroblepharon and macrostomia +MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602558 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes-lesenfants syndrome +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with macroblepharon and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with macroblepharon and macrostomia -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroblepharon, ectropion, hypertelorism, and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602562 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865181 -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602579 -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroblepharon, ectropion, hypertelorism, and macrostomia MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ib MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpi deficiency -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein-losing enteropathy-hepatic fibrosis syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saguenay-lac saint-jean syndrome -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootic dysplasia +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein-losing enteropathy-hepatic fibrosis syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602579 MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment anomalies with or without cataract MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos1 +MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootic dysplasia MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602588 MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602594 MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602612 +MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 +MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsion dystonia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torsion dystonia type 6 semapv:RegularExpressionReplacement -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602629 -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type -MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011265 tooth agenesis, selective, 2 skos:closeMatch OMIM:602639 tooth agenesis, selective, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, proximal MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dm2 +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrst -MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration +MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtadr MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 -MONDO:0011269 psoriasis 2 skos:closeMatch OMIM:602723 psoriasis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psors2 -MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc8 MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym predisposing for prostate cancer MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602759 +MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602772 -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosai-dorfman disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosai-dorfman disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864436 -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness +MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muenke nonsyndromic coronal craniosynostosis -MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnkes MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 +MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864436 +MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 +MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602875 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 +MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch OMIM:602875 acromesomelic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym st. helena dysplasia -MONDO:0011276 orofacial cleft 2 skos:exactMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofc2 -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 +MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 +MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 +MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603010 MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb17 -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603010 -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ic, formerly +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsg11 -MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer suppressor MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell lung cancer -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polip syndrome +MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer suppressor +MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsg11 +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polip syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, tymp-related -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps1 -MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb13 -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603098 +MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch OMIM:603116 cdags syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, anal anomalies, and porokeratosis MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603116 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch OMIM:603116 cdags syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, anal anomalies, and porokeratosis MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap syndrome +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930997 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch OMIM:603147 congenital disorder of glycosylation, iia ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ic -MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 5 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 5 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 7 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603194 @@ -19564,157 +17636,139 @@ MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMat MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603204 MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 18-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 8 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864112 +MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prion disorder, early-onset, with prominent psychiatric features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington-like neurodegenerative disorder, autosomal dominant -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php1b -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011302 type 1 diabetes mellitus 17 skos:closeMatch OMIM:603266 iia 1 diabetes mellitus 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603278 MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch OMIM:607929 CCM2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ccm2 +MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603278 MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 -MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch OMIM:607929 CCM2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ccm2 MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603285 MONDO:0011307 schizophrenia 2 skos:closeMatch OMIM:603342 schizophrenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 11q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish lethal neonatal metabolic syndrome MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, finnish, with hepatic hemosiderosis +MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 +MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 +MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864002 -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863959 +MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863959 MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603386 -MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tco1 -MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tco -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpph1 +MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, mega corpus callosum, and complete lack of motor development +MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, polymicrogyria, mega corpus callosum syndrome MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meg-pmg-megacc syndrome MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603387 -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, polymicrogyria, mega corpus callosum syndrome -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, mega corpus callosum, and complete lack of motor development MONDO:0011314 Graves disease, susceptibility to, 2 skos:closeMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grd2 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863881 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsukahara syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bams +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863881 MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 -MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603467 MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group f -MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch OMIM:613897 FANCF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancf -MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch OMIM:613897 FANCF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancf +MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch NCIT:C125707 Fanconi Anemia, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrin deficiency -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctln2 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type ii -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctln2 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrin deficiency +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NCIT:C150603 Citrullinemia Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrin deficiency +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 +MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niid -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603516 -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1963674 MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603516 +MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement -MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrothorax, congenital +MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 +MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chylothorax, congenital MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylothorax, congenital +MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrothorax, congenital MONDO:0011331 congenital chylothorax skos:exactMatch NCIT:C98891 Congenital Chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 -MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym m syndrome MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfss +MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym m syndrome MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603543 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 -MONDO:0011334 limb-mammary syndrome skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lms +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity type 2 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603546 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863732 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603546 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity type 2 -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh4 +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh4 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603552 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:602633 FHL2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fhl2 +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh2 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:602633 FHL2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhl2 MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh2 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603553 MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with hypereosinophilia -MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticuloendotheliosis, familial, with eosinophilia MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069097 -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with hypereosinophilia +MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticuloendotheliosis, familial, with eosinophilia MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603563 MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863704 +MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheobronchial stenosis, congenital MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchial stenosis, congenital -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 +MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iif MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603585 MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970344 -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iif -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863688 MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement +MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863688 +MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 +MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna17 +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603622 -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb21 +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603649 MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603671 MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acromelic frontonasal dysplasia -MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afnd -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb14 +MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603678 MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbc MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capb @@ -19722,499 +17776,449 @@ MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphan MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863599 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603689 MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:closeMatch OMIM:603694 iia 2 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb16 MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603720 -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603736 +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young-simpson syndrome +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603736 +MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian germ cell cancer +MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 -MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer -MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian germ cell cancer MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603744 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603786 -MONDO:0011370 Stargardt disease 4 skos:closeMatch OMIM:603786 stargardt disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd4 MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603802 -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb2, formerly MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb1, formerly MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb2, formerly +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0011375 brittle bone disorder skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859069 -MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603829 -MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivf +MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 +MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy with ovarian failure -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vwm +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy with ovarian failure MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch NCIT:C122664 Leukoencephalopathy with Vanishing White Matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858990 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 +MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858990 MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603903 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603909 MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt1 -MONDO:0011385 intervertebral disc degenerative disorder skos:closeMatch NCIT:C27156 Cervical Disc Degenerative Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical disc degenerative disorder semapv:RegularExpressionReplacement -MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intervertebral disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idd MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intervertebral disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intervertebral disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011385 intervertebral disc degenerative disorder skos:closeMatch NCIT:C27156 Cervical Disc Degenerative Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical disc degenerative disorder semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, protection against -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd1 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna16 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 +MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:605908 MLC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc1 -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:605908 MLC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mlc1 +MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc1 -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604060 -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb20 -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdl cholesterol, low serum -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604116 -MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma with ichthyosis MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vohwinkel syndrome, variant form -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 +MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma with ichthyosis MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vohwinkel syndrome, variant form -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604121 -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcadn -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, deafness, and narcolepsy, autosomal dominant -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604129 +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa pruriginosa +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604129 MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275114 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604131 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043390 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604131 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 +MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604154 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, facial dysmorphism, and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, facial dysmorphism, and neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604169 -MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch OMIM:604169 left ventricular noncompaction 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvnc1 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch OMIM:604169 left ventricular noncompaction 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 1 with or without congenital heart defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011404 Caronte skos:closeMatch OMIM:602621 CXADR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011404 Caronte skos:closeMatch OMIM:603881 NR1I3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011404 Caronte skos:closeMatch OMIM:604172 caronte semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car +MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poikiloderma with neutropenia MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:604173 poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pn MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:604173 poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma with neutropenia, clericuzio-type -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poikiloderma with neutropenia -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:608777 POSTN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pn MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604173 -MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcfp2 MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604185 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10 with or without peripheral neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10 with or without peripheral neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858712 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sm2 -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmcs +MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 +MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604213 MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 82, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604213 -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with collins bodies -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, familial, with neuroserpin inclusion bodies MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with neuroserpin inclusion bodies MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604218 -MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, familial, with neuroserpin inclusion bodies +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with collins bodies +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal dominant MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 +MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 -MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asgd5 -MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 +MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 +MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp1 +MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604233 -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604250 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 +MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604271 -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym increased responsiveness to growth hormone -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghip MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity, partial MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity, partial +MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym increased responsiveness to growth hormone MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604273 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970309 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, proximal, autosomal recessive MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal, with ocular abnormalities and mental retardation -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 +MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, proximal, autosomal recessive MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2e +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 +MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 MONDO:0011424 Carney triad skos:closeMatch OMIM:604287 carney triad semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858592 -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceruloplasmin deficiency -MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoceruloplasminemia MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemosiderosis, systemic, due to aceruloplasminemia +MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoceruloplasminemia MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:closeMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascariasis, susceptibility to -MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile chronic polyarthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059177 MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, systemic juvenile -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic juvenile rheumatoid arthritis -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833118 +MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile chronic polyarthritis MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852438 -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604307 -MONDO:0011431 MASS syndrome skos:closeMatch OMIM:604308 mass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overlap connective tissue disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833118 MONDO:0011431 MASS syndrome skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858556 -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with facial and genital anomalies and mental retardation -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with facial and genital anomalies and mental retardation -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 +MONDO:0011431 MASS syndrome skos:closeMatch OMIM:604308 mass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overlap connective tissue disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis-intellectual disability syndrome, verloes type +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604314 -MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph2 +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604317 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, severe infantile axonal, with respiratory failure -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, diaphragmatic MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858517 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, diaphragmatic +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604321 -MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch OMIM:604321 microcephaly 4, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph4 +MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acne, adult -MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne, adult -MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604326 MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858501 +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604326 +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt2 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064334 -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 +MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 +MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604348 -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011443 febrile seizures, familial, 4 skos:closeMatch OMIM:604352 febrile seizures, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011443 febrile seizures, familial, 4 skos:closeMatch OMIM:604352 febrile seizures, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feb4 MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604356 -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch OMIM:604356 duane retraction syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym durs2 -MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch OMIM:610844 SPG11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg11 MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604360 -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch OMIM:610844 SPG11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spg11 MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch NCIT:C148317 Spastic Paraplegia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604367 +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch NCIT:C148317 Spastic Paraplegia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with pparg mutations -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 -MONDO:0011449 Salla disease skos:closeMatch OMIM:604369 salla disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd +MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604367 MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brovca1 -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy +MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604377 +MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy +MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, autosomal recessive MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 2, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wh/ht +MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 -MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, autosomal recessive +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus and bicuspid aortic valve with hand anomalies MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604381 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858420 -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus and bicuspid aortic valve with hand anomalies -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 +MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604387 nephronophthisis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604636 NXPH3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 -MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:604636 NXPH3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nph3 -MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:608002 NPHP3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphp3 MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 -MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604387 nephronophthisis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 -MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:608002 NPHP3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nphp3 +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atld -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld1 -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atld -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 +MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604400 -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604400 MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604401 +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604403 -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp2 -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic sterile arthritis, pyoderma gangrenosum, and acne -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic sterile arthritis, pyoderma gangrenosum, and acne +MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic arthritis, pyoderma gangrenosum and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic arthritis, pyoderma gangrenosum and acne +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604431 -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604432 -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement +MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604432 MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858351 MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma with follicular differentiation -MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, infundibulocystic MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal cell carcinoma, infundibulocystic -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604454 +MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, infundibulocystic MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, swedish -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal dominant -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym welander distal myopathy MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label welander distal myopathy -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsno -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy, proximal type, formerly +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym welander distal myopathy +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal dominant +MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604454 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604498 +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy, proximal type, formerly MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604498 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327915 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amegakaryocytic thrombocytopenia, congenital -MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 +MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/skin fragility syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/skin fragility syndrome MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/skin fragility syndrome +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 -MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch OMIM:611408 LCA5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lca5 -MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch OMIM:611408 LCA5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lca5 MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604537 MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604559 MONDO:0011474 progressive familial heart block type IB skos:closeMatch OMIM:604559 progressive familial heart block, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfhbib -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858278 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604571 MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858266 -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hla class type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011476 MHC class I deficiency skos:exactMatch NCIT:C171267 Bare Lymphocyte Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bare lymphocyte syndrome type 1 +MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hla class type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch OMIM:604625 tooth agenesis, selective, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch OMIM:604625 tooth agenesis, selective, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthag3 MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604625 MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca syndrome MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca-weidemann syndrome -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic intolerance +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocirculatory asthenia MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soldiers heart -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic intolerance -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch NCIT:C84973 Orthostatic Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch NCIT:C85020 Postural Orthostatic Tachycardia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postural orthostatic tachycardia syndrome +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch NCIT:C84973 Orthostatic Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna20 -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna26 MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604757 MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604765 MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604765 MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:126090 PCBD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:604771 polycystic bone disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpvt1 -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604772 +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604777 -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858118 MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 -MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd1b +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858114 MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604802 MONDO:0011487 Huntington disease-like 3 skos:closeMatch OMIM:604802 huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington disorder-like neurodegenerative disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch OMIM:604804 microcephaly 3, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph3 MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604804 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858106 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858106 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panbronchiolitis, diffuse +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panbronchiolitis, diffuse -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pblt MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpb -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panbronchiolitis, diffuse MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 +MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch OMIM:604841 stickler syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stl2 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oscdp -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoarthritis with mild chondrodysplasia +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym namaqualand hip dysplasia +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604864 -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym north american indian childhood cirrhosis MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label north american indian childhood cirrhosis -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naic +MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym north american indian childhood cirrhosis MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858051 MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604901 MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 9 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -20224,681 +18228,611 @@ MONDO:0011499 Okamoto syndrome skos:closeMatch OMIM:604916 hydronephrosis, conge MONDO:0011499 Okamoto syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858042 MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604919 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858032 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical defects, wormian bones, and dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical defects, wormian bones, and dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical defects, wormian bones, and dentinogenesis imperfecta MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604928 MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604931 -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and microcephaly MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605013 -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microhydranencephaly MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microhydranencephaly -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypolipidemia, familial, combined +MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and microcephaly +MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microhydranencephaly +MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy, familial infantile -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, familial infantile +MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypolipidemia, familial, combined MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy, familial infantile MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:86909 Myoclonic epilepsy of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917800 +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, familial infantile MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605027 MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym non-hodgkin lymphoma MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:closeMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ldlc, mild elevation of -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bops MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605039 -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bohring-opitz syndrome +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796232 MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch NCIT:C131533 Bohring-Opitz Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796232 MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:closeMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chzam MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spiegler-brooke syndrome +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605055 +MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243002 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605067 -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 MONDO:0011516 early response to neural induction gene skos:closeMatch OMIM:605105 early response to neural induction gene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erni MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854631 MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch OMIM:605130 wiedemann-steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hairy elbows, short stature, facial dysmorphism, and developmental delay -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch OMIM:605130 wiedemann-steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdsts MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605130 -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna23 -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605192 +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605229 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854568 -MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 +MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605229 +MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605231 -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605233 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931071 +MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605233 MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605244 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:600542 NR4A3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chn -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chn1 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, severe congenital MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:118423 CHN1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chn1 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:118423 CHN1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chn1 -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, severe congenital MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 2 semapv:RegularExpressionReplacement MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm type 2 -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 2 semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605259 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854488 -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605274 +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854470 -MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605274 MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605275 MONDO:0011531 Noonan syndrome 2 skos:closeMatch OMIM:605275 noonan syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome, autosomal recessive -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854466 -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy preaxial brachydactyly syndrome MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpbs -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854466 MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605285 -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605293 -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly/autism syndrome MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly/autism syndrome +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605355 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605361 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605362 -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011544 paragangliomas 3 skos:closeMatch OMIM:605373 paragangliomas 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011544 paragangliomas 3 skos:closeMatch OMIM:605373 paragangliomas 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl3 MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605373 +MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605375 MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx -MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx2 MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605376 +MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxic cerebral palsy MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch NCIT:C97168 Ataxic Cerebral Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxic cerebral palsy -MONDO:0011549 hypotrichosis 1 skos:closeMatch OMIM:605389 hypotrichosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis simplex, generalized, hereditary MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605389 -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, infantile, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal recessive +MONDO:0011549 hypotrichosis 1 skos:closeMatch OMIM:605389 hypotrichosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis simplex, generalized, hereditary MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label segawa syndrome, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, infantile, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal recessive -MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catatonia, periodic +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal recessive MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 15q15-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catatonia, periodic MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb26 MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605428 -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rusat MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, multiple MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, nonsyndromic -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 2 semapv:RegularExpressionReplacement -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 +MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 -MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 -MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 6, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 2 semapv:RegularExpressionReplacement +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma beta-amyloid-42 level quantitative trait locus +MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 6, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 +MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605543 -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park4 -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605544 -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggf2 +MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605549 -MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome, protection against MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms1 +MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome, protection against MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:closeMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms2 -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605582 -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:closeMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms2 MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 +MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605582 MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna25 MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854154 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605588 +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854154 +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854150 +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcmt2b -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dgi1 syndrome -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dentinogenesis imperfecta type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi1/dfna39 syndrome +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dentinogenesis imperfecta type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dgi1 syndrome MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605594 MONDO:0011572 type 1 diabetes mellitus 18 skos:closeMatch OMIM:605598 iia 1 diabetes mellitus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854108 MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605627 -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hald2 -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854108 MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854107 MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605635 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 myopathy, proximal, with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 myopathy, proximal, with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mypop -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 myopathy, proximal, with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 3, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:617861 MYPOP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mypop +MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 3, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:617861 MYPOP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mypop -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, papillary, with papillary renal neoplasia -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854104 -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, papillary, with papillary renal neoplasia MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prn1 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, papillary, with papillary renal neoplasia +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854104 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn +MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854065 MONDO:0011579 late-onset retinal degeneration skos:closeMatch OMIM:605670 late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, late-onset, autosomal dominant -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605672 MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854063 MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605676 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605711 -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds1 -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds1 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, italian variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, flemish variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, hereditary, with cerebral hemorrhage, dutch variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy, app-related +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral amyloid angiopathy, app-related -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605724 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited cancer-predisposing syndrome due to biallelic brca2 mutations +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d1 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad1 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad1 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited cancer-predisposing syndrome due to biallelic brca2 mutations +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605724 +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal hereditary motor neuropathy, jerash type MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma2 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central saccular, with sutural opacities MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central pouch-like, with sutural opacities -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 +MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 +MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostaglandin-endoperoxide synthase type 1 deficiency, platelet semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605738 -MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive, early-onset, pulverulent +MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605749 -MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605750 MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfis2 MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:closeMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, hypergonadotropic, type 20 type, with short stature and recurrent metabolic acidosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605779 -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital onychodysplasia +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodysplasia, isolated congenital -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc7 MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, with asthma MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011599 birdshot chorioretinopathy skos:closeMatch OMIM:605808 birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bscr MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853959 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch OMIM:605808 birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bscr +MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853959 MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia1, formerly +MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, neonatal intrahepatic, caused by citrin deficiency -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853942 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853942 +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, neonatal intrahepatic, caused by citrin deficiency MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605818 MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb27 -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nm -MONDO:0011603 GNE myopathy skos:exactMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dmrv -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with rimmed vacuoles -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with rimmed vacuoles +MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605818 MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonaka distal myopathy +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nm -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with rimmed vacuoles MONDO:0011603 GNE myopathy skos:exactMatch NCIT:C176900 Nonaka Myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonaka myopathy MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, hereditary, autosomal recessive +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with rimmed vacuoles +MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloocular syndrome MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloocular syndrome -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sos -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbfhs MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label narcolepsy type 2 semapv:RegularExpressionReplacement MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605841 MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdhd -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gce +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, nonketotic -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park6 -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, autosomal recessive early-onset, digenic, pink1/dj1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch NCIT:C184990 Parkinson Disease 6, Early Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, early onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcs2 deficiency -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hmg-coa synthase deficiency -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751532 -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcs2d MONDO:0011615 East Texas bleeding disorder skos:closeMatch OMIM:605913 bleeding disorder, east texas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdet MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853831 MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605913 MONDO:0011616 holoprosencephaly 6 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605934 MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605946 MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853825 -MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrps -MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, preaxial polydactyly, and sternal deformity -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853812 MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605967 +MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853812 +MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, preaxial polydactyly, and sternal deformity MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar acropectoral syndrome MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:closeMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, uric acid, susceptibility to -MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:closeMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uan MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyaid syndrome MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291329 MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606003 -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna18 MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:closeMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoch -MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrase speech delay, autism-related MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism-related speech delay +MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrase speech delay, autism-related MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606053 +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia with ketoacidosis and leukopenia +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinemia, ketotic +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc deficiency MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinemia, ketotic -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc deficiency -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia with ketoacidosis and leukopenia -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853736 -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iib +MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 +MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853736 MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606068 -MONDO:0011631 hemochromatosis type 4 skos:closeMatch OMIM:606069 hemochromatosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, autosomal dominant MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853733 -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 +MONDO:0011631 hemochromatosis type 4 skos:closeMatch OMIM:606069 hemochromatosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, autosomal dominant MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 +MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch NCIT:C168755 Amyotrophic Lateral Sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606071 MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011634 rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606071 MONDO:0011634 rippling muscle disease skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011634 rippling muscle disease skos:exactMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch OMIM:606129 diamond-blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba2 +MONDO:0011634 rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 MONDO:0011637 Sener syndrome skos:closeMatch OMIM:606156 sener syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia and dilated virchow-robin spaces -MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba15 +MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 +MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtpts -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopatellar syndrome -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853566 +MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation +MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopatellar syndrome MONDO:0011641 baculum, congenital absence of skos:closeMatch OMIM:606174 baculum, congenital absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os penis, congenital absence of MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crat MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crat MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606187 -MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad7 MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad7 +MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, radiation-induced MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnri MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, radiation-induced -MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, radiation-induced MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606190 MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606217 -MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd2 MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect, partial, with heterotaxy syndrome MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:closeMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, short stature, facial anomalies, and joint dislocations -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phmds -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telomeric type 22q13 monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telomeric type 22q13 monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phelan-mcdermid syndrome MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kondoh syndrome +MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206657 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001882 -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft tissue sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma -MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606282 -MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna24 -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park7 MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606324 +MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606325 +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna22 MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22, with hypertrophic cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gambling, pathologic MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gambling, pathologic -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, juvenile -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plsj -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, alpha, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, juvenile +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd41 +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, alpha, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606392 MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606394 +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p21 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p16 deletion syndrome, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p21 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch OMIM:609018 HLCS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hcs -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edscll -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848029 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, classic-like -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606438 +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847987 -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 +MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606438 MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606445 -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna30 +MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606451 -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b, with neutropenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmtdi1 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtb -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disorder type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606483 -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phace association -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phace association -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phaces association +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847874 MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, giant congenital -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847874 +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phace association +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phace association +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phaces association MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:closeMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, infantile, with enteropathy and deafness MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606552 MONDO:0011681 episodic ataxia type 4 skos:closeMatch OMIM:606552 episodic ataxia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, periodic vestibulocerebellar -MONDO:0011681 episodic ataxia type 4 skos:closeMatch OMIM:606552 episodic ataxia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea4 -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 +MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 MONDO:0011682 episodic ataxia type 3 skos:closeMatch OMIM:606554 episodic ataxia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with vertigo and tinnitus -MONDO:0011682 episodic ataxia type 3 skos:closeMatch OMIM:606554 episodic ataxia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea3 -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847836 +MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 +MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606574 -MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic lupus erythematosus, vitiligo-related +MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847836 MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo -MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vamas1 +MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic lupus erythematosus, vitiligo-related MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch NCIT:C26915 Vitiligo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitiligo MONDO:0011685 polysubstance abuse, susceptibility to skos:closeMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drug addiction, susceptibility to -MONDO:0011685 polysubstance abuse, susceptibility to skos:closeMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psab -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847827 +MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847823 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606595 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fkrp-related -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0011690 Camurati-Engelmann disease, type 2 skos:closeMatch OMIM:606631 camurati-engelmann disease, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caend2 +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606640 -MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch OMIM:606640 amyotrophic lateral sclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als3 MONDO:0011693 glaucoma, normal tension, susceptibility to skos:closeMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, normal pressure, susceptibility to -MONDO:0011693 glaucoma, normal tension, susceptibility to skos:closeMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntg -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca15 MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 16, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scar16 +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606658 -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scar16 MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606660 MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606661 -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 +MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847720 +MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 +MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lam -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lung lymphangioleiomyomatosis +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphangioleiomyomatosis -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lam -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym krs -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 9, autosomal recessive, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lung lymphangioleiomyomatosis MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopyramidal degeneration with supranuclear upgaze paresis and dementia -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 9, autosomal recessive, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:601421 KARS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym krs -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna36 MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606705 +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606708 -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011709 split hand-foot malformation 5 skos:closeMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement MONDO:0011710 specific language impairment 1 skos:closeMatch OMIM:606711 specific language impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011711 specific language impairment 2 skos:closeMatch OMIM:606712 specific language impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vws2 MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606719 -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma-pancreatic cancer syndrome +MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-pancreatic cancer syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma-pancreatic cancer syndrome @@ -20906,96 +18840,84 @@ MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch OMIM:606719 me MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606721 MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606744 MONDO:0011716 acute hemorrhagic leukoencephalitis skos:closeMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahl -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf6 MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606762 -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606763 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051066 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238198 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179349 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238198 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 -MONDO:0011720 spermatogenic failure 3 skos:closeMatch OMIM:606766 spermatogenic failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf3 MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606766 MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with anterior tibial onset MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmat +MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with anterior tibial onset MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with anterior tibial onset +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606772 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, obesity, mandibular prognathism, and eye and skin anomalies MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome +MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch OMIM:606773 hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmh -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1ds1 MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847501 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011387 -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 MONDO:0011726 peripheral arterial occlusive disease 1 skos:closeMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paod1 -MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym an MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anon MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorexia nervosa, susceptibility to MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorexia nervosa, susceptibility to -MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:106210 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym an -MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:110350 blood group--ahonen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym an MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharospasm, benign essential, susceptibility to MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharospasm, benign essential, susceptibility to MONDO:0011728 blepharospasm skos:exactMatch NCIT:C118723 Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm MONDO:0011729 stroke, susceptibility to, 1 skos:closeMatch OMIM:606799 stroke, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strk1 -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 -MONDO:0011730 fumaric aciduria skos:closeMatch OMIM:606812 fumarase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmrd +MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 +MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose/galactose malabsorption MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066388 MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggm -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdab -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital arthropathy-brachydactyly, familial +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose/galactose malabsorption +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital arthropathy-brachydactyly, familial +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital arthropathy-brachydactyly, familial MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch NCIT:C175208 Familial Digital Arthropathy-Brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 MONDO:0011733 parasomnia, sleep bruxism type skos:closeMatch OMIM:606840 parasomnia, sleep bruxism iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciomandibular myoclonus, nocturnal -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 3 semapv:RegularExpressionReplacement MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 -MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606852 -MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, age at onset of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfpp +MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, age at onset of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606852 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral frontoparietal MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral frontoparietal MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with neuronal migration defect -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral frontoparietal -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606856 MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca1 @@ -21007,209 +18929,188 @@ MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphane MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad4 MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606889 -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation, primary intraosseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangioma, intraosseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation, primary intraosseous MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 -MONDO:0011748 Usher syndrome type 1G skos:exactMatch OMIM:607696 USH1G semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush1g -MONDO:0011748 Usher syndrome type 1G skos:exactMatch OMIM:607696 USH1G semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ush1g -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yellow albinism -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 +MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847024 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yellow albinism +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011752 nephronophthisis 4 skos:exactMatch OMIM:607215 NPHP4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphp4 -MONDO:0011752 nephronophthisis 4 skos:exactMatch OMIM:607215 NPHP4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nphp4 -MONDO:0011752 nephronophthisis 4 skos:closeMatch OMIM:606966 nephronophthisis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis type 4, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606966 +MONDO:0011752 nephronophthisis 4 skos:closeMatch OMIM:606966 nephronophthisis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis type 4, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606984 +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhha2 MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhha2 -MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606995 +MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn4 -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606996 MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607004 -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s +MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086431 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011760 Scheie syndrome skos:closeMatch OMIM:607016 scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps v, formerly +MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607017 -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna21 MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb22 +MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607039 MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607060 -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park8 -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607078 -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 5 semapv:RegularExpressionReplacement -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846843 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microepiphyseal dysplasia, bilateral hereditary MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, matn3-related -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microepiphyseal dysplasia, bilateral hereditary +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 5 semapv:RegularExpressionReplacement +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846843 MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607080 MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751325 -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb31 MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whirler, mouse, homolog of +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607084 MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myas1 MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607085 -MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat2 MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607087 -MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faa2 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn3 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607091 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iid MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931009 -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846796 -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 +MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607091 MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anauxetic dysplasia MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anxd1 -MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846796 +MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607101 -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb30 -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npc +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607101 +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch NCIT:C3871 Nasopharyngeal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607107 -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal cancer -MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cinca MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem inflammatory disorder, neonatal-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607115 -MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad8 +MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607116 -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with multiple epiphyseal dysplasia and distinctive facies MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agbk MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607131 MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:closeMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lel MONDO:0011780 specific language impairment 3 skos:closeMatch OMIM:607134 specific language impairment 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 17 semapv:RegularExpressionReplacement MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607136 +MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 17 +MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 17 semapv:RegularExpressionReplacement MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931001 +MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ig -MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011784 Moyamoya disease 2 skos:closeMatch OMIM:607151 moyamoya disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mymy2 MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607151 MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 +MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607151 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607152 -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym allergic rhinitis MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic rhinitis -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym allergic rhinitis -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis +MONDO:0011786 allergic rhinitis skos:closeMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic rhinitis MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2i MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607155 +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple congenital anomalies syndrome with cloverleaf skull MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies syndrome with cloverleaf skull MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607161 MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846671 MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607174 -MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, familial, susceptibility to MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, familial, susceptibility to -MONDO:0011790 Amish lethal microcephaly skos:closeMatch OMIM:607196 microcephaly, amish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 3 (microcephaly type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011790 Amish lethal microcephaly skos:closeMatch OMIM:607196 microcephaly, amish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcpha -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 +MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, familial, susceptibility to MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 +MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 +MONDO:0011790 Amish lethal microcephaly skos:closeMatch OMIM:607196 microcephaly, amish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 3 (microcephaly type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846648 -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormonogenesis, genetic defect in, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tdh6 MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to dyshormonogenesis, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011793 celiac disease, susceptibility to, 5 skos:closeMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gses +MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormonogenesis, genetic defect in, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011793 celiac disease, susceptibility to, 5 skos:closeMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia, total, with microcephaly +MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607214 MONDO:0011796 epilepsy, partial, with pericentral spikes skos:closeMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epps -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paralysis, infantile-onset ascending -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931441 +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607225 +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931441 MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:closeMatch OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harp syndrome -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb33 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607239 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011800 glioma susceptibility 4 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607248 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 1 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846574 @@ -21217,131 +19118,112 @@ MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:606923 HCAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607258 -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch OMIM:602783 SPG7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spg7 -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch OMIM:602783 SPG7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg7 -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846564 +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711370 -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch OMIM:607271 caspase 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ceds +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607271 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:closeMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym as1 -MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:closeMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt1 +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch OMIM:607271 caspase 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 -MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteofibrous dysplasia, susceptibility to MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteofibrous dysplasia, susceptibility to -MONDO:0011806 osteofibrous dysplasia skos:exactMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofd -MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 27, nuclear progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 +MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteofibrous dysplasia, susceptibility to MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccnp -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 +MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 27, nuclear progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hgpps +MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 +MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846496 MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with saccadic intrusions MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 24, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with saccadic intrusions +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 -MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa3 +MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607324 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa3 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt3 -MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607330 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 +MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607330 +MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 +MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:closeMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds1 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcord2 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor with balloon cells MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor without balloon cells +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor with balloon cells MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor without balloon cells -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca19 -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607361 -MONDO:0011822 Bartter disease type 3 skos:closeMatch OMIM:607364 bartter syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, classic MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846343 MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym djo -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, juvenile-onset +MONDO:0011822 Bartter disease type 3 skos:closeMatch OMIM:607364 bartter syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, classic MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, juvenile-onset +MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, juvenile-onset MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607371 -MONDO:0011824 autism, susceptibility to, 8 skos:closeMatch OMIM:607270 AUTS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts2 -MONDO:0011824 autism, susceptibility to, 8 skos:closeMatch OMIM:607270 AUTS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auts2 MONDO:0011824 autism, susceptibility to, 8 skos:closeMatch OMIM:607373 autism, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts2, formerly +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607398 MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccd2 -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011827 patent ductus arteriosus skos:exactMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pda -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt2 +MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt2 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10 deficiency, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ubiquinone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d1 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607426 -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ubiquinone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subcortical band heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis1 MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, classic -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly sequence, isolated MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly sequence, isolated +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna44 +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843891 @@ -21349,1759 +19231,1569 @@ MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spin MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607458 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorimotor neuropathy with ataxia, autosomal dominant MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorimotor neuropathy with ataxia, autosomal dominant +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, with sensory ataxic neuropathy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with epilepsy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hurthle cell thyroid neoplasia +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, hurthle cell MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, hurthle cell +MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hurthle cell thyroid neoplasia MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607464 MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd2 MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607475 MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843816 MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label newfoundland rod-cone dystrophy MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607482 -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thmd2 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, thiamine-responsive -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal lobar degeneration with tdp43 inclusions, grn-related -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, grn-related -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia, ubiquitin-positive +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, hereditary dysphasic disinhibition MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, primary progressive +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal lobar degeneration with tdp43 inclusions, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia, ubiquitin-positive +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, hereditary dysphasic disinhibition -MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt15 +MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:closeMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr3 -MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:closeMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bn -MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:closeMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buln -MONDO:0011847 migraine without aura, susceptibility to, 4 skos:closeMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgoa -MONDO:0011848 headache associated with sexual activity skos:closeMatch OMIM:607504 headache associated with sexual activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsa MONDO:0011848 headache associated with sexual activity skos:closeMatch OMIM:607504 headache associated with sexual activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign sexual headache MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label psoriatic arthritis, susceptibility to MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:closeMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr5 -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr6 MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 -MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toenail dystrophy, isolated +MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc8 -MONDO:0011853 Camptosynpolydactyly, complex skos:closeMatch OMIM:607539 camptosynpolydactyly, complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccspd MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:607541 corneal dystrophy, avellino iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:607541 corneal dystrophy, avellino iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275685 MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 +MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275685 MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:123920 CDA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cda -MONDO:0011855 granular corneal dystrophy type II skos:exactMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cgd2 -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:609377 ACD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acd -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:609377 ACD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch OMIM:123920 CDA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843706 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607554 -MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb3 -MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:617627 SPAAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar +MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607572 MONDO:0011861 breath-holding Spells skos:closeMatch OMIM:607578 breath-holding spells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhs -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:closeMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpcqtl19 -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to icos defect MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid1 -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1a -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to icos defect +MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607596 -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607598 MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843478 -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 +MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607598 MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 +MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 +MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch OMIM:607616 niemann-pick disease, iia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, with visceral involvement and rapid progression semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch OMIM:607616 niemann-pick disease, iia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, with visceral involvement and rapid progression semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868679 +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607625 -MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch OMIM:601015 NPC2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym npc2 -MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch OMIM:601015 NPC2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label npc2 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc +MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis-sclerosing cholangitis syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843355 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eja1 -MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607634 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607634 -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607641 -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7b +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn7b -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic nail, with icam1 deficiency +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7b +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607641 MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcnc +MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic nail, with icam1 deficiency MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607644 -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppks3 +MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin fragility-woolly hair syndrome -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfwhs MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin fragility-woolly hair syndrome -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607658 MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843285 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinu +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute tubulointerstitial nephritis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubulointerstitial nephritis with uveitis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubulointerstitial nephritis with uveitis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute tubulointerstitial nephritis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069039 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 +MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607671 MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt13 type -MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 +MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 MONDO:0011888 immunodeficiency 67 skos:closeMatch OMIM:607676 immunodeficiency 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym invasive pneumococcal disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607677 +MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607678 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eig9 +MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement +MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna52 +MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607683 MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607683 MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607684 -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hes MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206141 MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607685 -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypereosinophilic syndrome, idiopathic -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hes MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypereosinophilic syndrome, idiopathic -MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park11 +MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypereosinophilic syndrome, idiopathic MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607688 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentoleukoencephalopathy +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, delayed dentition, and hypomyelination +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2 with vocal cord paresis, autosomal recessive MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nslh +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501846 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tosti syndrome -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nslh1 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607728 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843173 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843173 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with pyramidal features, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843164 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607736 MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 +MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607736 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfis3 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal-infantile -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607765 -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607765 +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607778 -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch OMIM:607778 acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acfd +MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, juvenile myelomonocytic MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelomonocytic -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023249 -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607785 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349639 -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607791 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023249 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate d MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843075 -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch OMIM:607812 craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clsd -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843042 +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607791 +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607812 +MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843042 +MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb37 -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607821 -MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and apraxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 3, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and unusual plaques semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and apraxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607823 -MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlts +MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 +MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvp2 -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch OMIM:607831 charcot-marie-tooth disease, axonal, iia 2k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2k -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2k +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 3, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsgs3 MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 -MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anxiety MONDO:0011918 anxiety skos:closeMatch OMIM:607834 anxiety semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harm avoidance -MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ais1 -MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna48 +MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement +MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607841 -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement -MONDO:0011921 aural atresia, congenital skos:closeMatch OMIM:607842 aural atresia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caa MONDO:0011921 aural atresia, congenital skos:closeMatch OMIM:607842 aural atresia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, congenital, with hyposmia MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607842 -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842930 -MONDO:0011923 osteoarthritis susceptibility 3 skos:closeMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os3 +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 MONDO:0011923 osteoarthritis susceptibility 3 skos:closeMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee/hip -MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 9q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand2 -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to partial lama2 deficiency +MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 9q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to partial lama2 deficiency +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd1a -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607855 -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy type 1a -MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted -MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, tufted -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607855 MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607859 +MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346073 -MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal duplication anomaly +MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, tufted +MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted +MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal duplication anomaly -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 +MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal duplication anomaly MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842884 -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 +MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842870 +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosomy type 1p36 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fame2 -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonus and epilepsy, autosomal dominant +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htl MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607903 MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, localized, autosomal recessive MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607906 -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057070 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma +MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch NCIT:C123330 Macular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with brain and digit developmental anomalies -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with brain and digit developmental anomalies MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, exfoliative, autosomal recessive -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss4 +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 +MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, exfoliative, autosomal recessive MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis bullosa of siemens-like MONDO:0011938 atrial septal defect 2 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607941 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 -MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607948 MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium tuberculosis, protection against -MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 skos:closeMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtbs1 -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842704 +MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607948 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 +MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842704 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608022 MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842691 +MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608022 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch with optic atrophy MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608027 -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842687 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842676 -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842687 +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, infantile nonprogressive, autosomal recessive MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym norwegian infantile onset ataxia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842676 MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608031 -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute necrotizing, susceptibility to -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae3 +MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608035 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:closeMatch OMIM:608036 iia 2 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomm-button disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilic dermatosis, acute febrile MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilic dermatosis, acute febrile -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch OMIM:603671 acromelic frontonasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 10q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd11 -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842586 -MONDO:0011963 Joubert syndrome 2 skos:closeMatch OMIM:608091 joubert syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 +MONDO:0011963 Joubert syndrome 2 skos:closeMatch OMIM:608091 joubert syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931004 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608093 +MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931004 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch OMIM:608093 congenital disorder of glycosylation, iia ij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ij -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial temporal lobe epilepsy MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftle +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial temporal lobe epilepsy MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, autosomal recessive -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arphm -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 +MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalinopathy, primary MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608099 MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931002 -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608104 MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ih -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842531 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eprpdc +MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608104 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym re-ped-wc +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842531 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608115 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian hyperstimulation syndrome, familial gestational spontaneous +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 MONDO:0011973 zinc deficiency, transient neonatal skos:closeMatch OMIM:608118 zinc deficiency, transient neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zinc deficiency, neonatal, due to low breast milk zinc -MONDO:0011973 zinc deficiency, transient neonatal skos:closeMatch OMIM:608118 zinc deficiency, transient neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnzd MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608133 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kagami-ogata syndrome +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608154 -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmlfs MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842464 -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842914 +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmd3 MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:closeMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aitd1 -MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:closeMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aitd2 -MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:closeMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aitd3 -MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:closeMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aitd4 MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 +MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly, type 3/3-prime/4, associated with metacarpal and metatarsal synostoses semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 4 semapv:RegularExpressionReplacement MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 -MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tropical calcific pancreatitis +MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608189 MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842402 MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608194 MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842398 -MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 +MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023281 -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024198 +MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608217 MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb38 MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608219 -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936860 -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to antithrombotic effect of MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to cardioprotective effect of -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna41 -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608224 -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608224 +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608227 -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic myeloid +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid, atypical MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelogenous +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic myeloid +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608232 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023473 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009013 -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842362 MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label slowed nerve conduction velocity, autosomal dominant +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608236 MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slowed nerve conduction velocity, autosomal dominant -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sncv -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 -MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label slowed nerve conduction velocity, autosomal dominant MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phobia, specific +MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, simple -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb40 -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608264 MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement +MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb39 -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608265 +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608266 -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch OMIM:608266 parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prtc MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:closeMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return, multiple cardiac malformations, and craniofacial and central nervous system abnormalities -MONDO:0012008 Lelis syndrome skos:closeMatch OMIM:608290 lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with acanthosis nigricans MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842307 MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 +MONDO:0012008 Lelis syndrome skos:closeMatch OMIM:608290 lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with acanthosis nigricans MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:closeMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds2 MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:closeMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds4 -MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:closeMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcad1 MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:closeMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder with myocardial infarction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate c -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842237 -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608323 +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842237 MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate a -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842197 +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate a MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label capillary malformation-arteriovenous malformation syndrome MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch OMIM:608358 myopathy, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal dominant -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch OMIM:608358 myopathy, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msma MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 +MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal dominant MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608363 -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675369 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608363 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012021 myopia 17, autosomal dominant skos:closeMatch OMIM:608367 myopia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 +MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna49 MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608380 -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch OMIM:608389 branchiootic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608389 -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch OMIM:608389 branchiootic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos3 -MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 7-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012025 branchiootic syndrome 3 skos:closeMatch OMIM:608389 branchiootic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 7-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 8-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch OMIM:608393 microcephaly 6, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph6 MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608393 -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608394 -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna43 -MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608406 MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842082 -MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency +MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608415 -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608423 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1f -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, calcification of basal ganglia, and facial dysmorphism +MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608423 MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, calcification of basal ganglia, and facial dysmorphism +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, calcification of basal ganglia, and facial dysmorphism +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 -MONDO:0012038 speech-sound disorder skos:closeMatch OMIM:608445 speech-sound disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssd MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, protection against MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch NCIT:C43433 Map semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label map MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608462 +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reis-bücklers corneal dystrophy -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdrb MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, geographic +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608471 -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch OMIM:608471 corneal dystrophy, lattice iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl3a MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:closeMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacities, congenital, with cornea guttata and corectopia -MONDO:0012048 endogenous depression skos:closeMatch NCIT:C35094 Unipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unipolar depression -MONDO:0012048 endogenous depression skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdd -MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdd -MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression +MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major depressive disorder -MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012048 endogenous depression skos:closeMatch NCIT:C35094 Unipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unipolar depression MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012050 major depressive disorder 1 skos:closeMatch OMIM:608520 major depressive disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931005 MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608540 +MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931005 MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ik -MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd12 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen-like syndrome -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larsen-like syndrome MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608545 +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen-like syndrome MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrsl +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larsen-like syndrome MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608553 -MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legionella infection MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legionella infection MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:closeMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mci2 -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa4 MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608562 +MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa4 +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608565 -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb35 -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040639 -MONDO:0012061 familial sick sinus syndrome skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss1 +MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ventricular tachycardia MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar/fibular ray defect and brachydactyly MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar/fibular ray defect and brachydactyly MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608571 +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar/fibular ray defect and brachydactyly MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608572 -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch OMIM:608572 burn-mckeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bmks MONDO:0012066 atrial fibrillation, familial, 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608583 -MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:closeMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt2 -MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608594 MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, agpat2-related +MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608594 MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial partial lipodystrophy, köbberling type MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608600 +MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608611 -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 +MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837756 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym madb MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608615 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837750 -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608615 MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement +MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608627 MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 -MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch OMIM:608634 neuronopathy, distal hereditary motor, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch OMIM:608634 neuronopathy, distal hereditary motor, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn2b MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608634 +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 15q11-q13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675336 -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna28 -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement +MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa decarboxylase deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddc deficiency -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608644 -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna31 +MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement +MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608645 -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608646 -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis-prematurity syndrome MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 -MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch OMIM:611670 ISYNA1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ips MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch OMIM:608649 ichthyosis prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna47 +MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb32 +MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608653 +MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608654 -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch NCIT:C156360 Neuropathy, Hereditary Sensory and Autonomic, Type V semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type v -MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc3 MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608656 -MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc4 MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer, hereditary, on chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608658 -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with distinctive facial appearance and brachydactyly MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with distinctive facial appearance and brachydactyly -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608670 +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with distinctive facial appearance and brachydactyly MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837564 +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608670 MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608673 -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch OMIM:608681 spondylocostal dysostosis 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo2 MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608687 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837541 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with spasmodic cough -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysphonia MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q12 duplication syndrome, type 260-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aica-ribosuria due to atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysphonia MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837530 +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aica-ribosuria due to atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency MONDO:0012100 major depressive disorder 2 skos:closeMatch OMIM:608691 major depressive disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch OMIM:608695 glaucoma 1, open angle, j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608695 +MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch OMIM:608695 glaucoma 1, open angle, j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch OMIM:608696 glaucoma 1, open angle, k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608696 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837518 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837518 +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apld, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome -MONDO:0012104 acquired partial lipodystrophy skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apld -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, progressive MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, susceptibility to +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apld, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, susceptibility to -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, progressive MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047888 +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495801 -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch OMIM:617922 GYPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpa MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis -MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch OMIM:608716 microcephaly 5, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph5 MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608716 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837481 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608728 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, matrilin-3 related MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt4 MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1 deficiency +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837475 MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608747 -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation -MONDO:0012111 hypertrophic cardiomyopathy 8 skos:closeMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh8 MONDO:0012111 hypertrophic cardiomyopathy 8 skos:closeMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012112 hypertrophic cardiomyopathy 10 skos:closeMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:closeMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome with mental retardation, deafness, and cataract -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837454 -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837454 MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608768 -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608776 +MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type il MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg il -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 -MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia with pyruvate dehydrogenase phosphatase deficiency -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 +MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdhpd -MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia with pyruvate dehydrogenase phosphatase deficiency MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608796 MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ie MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden infant death with dysgenesis of the testes syndrome MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudden infant death with dysgenesis of the testes syndrome -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher-like disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837355 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anfh1 MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608807 +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837342 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2j +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608807 MONDO:0012128 transposition of the great arteries, dextro-looped skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608808 -MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:closeMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lach +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, with or without cataract and/or cardiomyopathy +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-b crystallin-related late-onset distal myopathy MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm2 MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, alpha-b crystallin-related -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, with or without cataract and/or cardiomyopathy -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-b crystallin-related late-onset distal myopathy -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608811 MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crcs1 MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and cancer, susceptibility to MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608816 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833518 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, lethal neonatal -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833518 MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608837 -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, large-related +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608840 -MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 +MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, large-related MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608864 -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc6 -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 -MONDO:0012142 orofacial cleft 5 skos:closeMatch OMIM:608874 orofacial cleft 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc5 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stomatin-deficient cryohydrocytosis with neurologic defects -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis +MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stomatin-deficient cryohydrocytosis with neurologic defects -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdchcn +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stomatin-deficient cryohydrocytosis with neurologic defects +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 +MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration -MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:608895 macular degeneration, age-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym armd3 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration -MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh3 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh3 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:602790 FHL3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fhl3 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:602790 FHL3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhl3 -MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds5 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh3 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh3 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds5 MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012154 myopia 6 skos:closeMatch OMIM:608908 myopia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp6 +MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608908 -MONDO:0012155 choanal atresia skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608911 -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 +MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior +MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia, posterior MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia, posterior -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca +MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608911 +MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms id, formerly -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with cone-rod dystrophy -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdcrd MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837073 MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd8 deficiency, familial -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd8 deficiency, familial MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608957 MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837065 -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd8 deficiency, familial +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd8 deficiency, familial MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive +MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608978 MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837026 +MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750433 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 -MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifid nose with or without anorectal and renal anomalies -MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bnar -MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsa +MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsa +MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608988 MONDO:0012169 premature ovarian failure 3 skos:closeMatch OMIM:608996 premature ovarian failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof3 -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb36 -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant, without vestibular involvement -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtpd -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial trifunctional protein deficiency +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant, without vestibular involvement +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency with myopathy and neuropathy -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609016 +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012175 cataract 28 skos:closeMatch OMIM:609026 cataract 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836929 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 -MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp +MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836916 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior column ataxia with retinitis pigmentosa +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axpc1 MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609039 MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609040 +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836899 -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 +MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609048 -MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm3 -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 +MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 MONDO:0012184 Pierson syndrome skos:closeMatch OMIM:609049 pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria-congenital nephrotic syndrome -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836862 MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 -MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch OMIM:611360 FANCI semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fanci -MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch OMIM:611360 FANCI semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanci +MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836862 +MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609053 MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group i -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group j MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609054 MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch NCIT:C129027 Fanconi Anemia, Complementation Group J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609054 MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 -MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy with pretibial epidermolysis bullosa and deafness -MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836823 -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd1 -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 +MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy with pretibial epidermolysis bullosa and deafness MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoencephalopathy, early fatal progressive MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836797 -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836780 -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent neonatal, with cerebellar agenesis +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609115 +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836780 MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1g +MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609115 MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with severe scoliosis -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da4 -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 -MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609129 +MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic dominant +MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609129 MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia, susceptibility to MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NCIT:C2870 Aplastic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia, susceptibility to MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:182040 Aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609136 -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012198 PCWH syndrome skos:closeMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome, neurologic variant +MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 +MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609136 +MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcd2 MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609140 -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcd3 +MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609141 MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch OMIM:609148 malaria, mild, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, congenital nonautoimmune +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune, autosomal dominant +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic thyroid hyperplasia, autosomal dominant -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, congenital nonautoimmune MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia lille -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, mild -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia chiswick MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia falkirk MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia east london -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836705 MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609153 +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia lille +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, mild +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836705 +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia chiswick MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609161 -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsd MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant striatal neurodegeneration +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label czech dysplasia MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with precocious osteoarthritis MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudorheumatoid dysplasia, progressive, with hypoplastic toes -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym czech dysplasia MONDO:0012207 umbilicus, familial flat skos:closeMatch OMIM:609164 umbilicus, familial flat semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flat umbilicus, autosomal dominant -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratoderma, reticular -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, congenital reticular MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarau disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609166 +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, congenital reticular +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratoderma, reticular MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836673 +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609166 MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchiogenic-deafness syndrome MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiogenic-deafness syndrome MONDO:0012210 migraine with aura, susceptibility to, 7 skos:closeMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr7 -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836669 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609180 +MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836669 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg if MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lds1 -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz aortic aneurysm syndrome MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836632 -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz aortic aneurysm syndrome +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836632 +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch NCIT:C131451 Familial Glucocorticoid Deficiency Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 +MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, myotilin-related -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm3 -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fvh2 +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836602 -MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brks2 MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609220 MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with occipital cephalocele, autosomal dominant MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with occipital cephalocele, autosomal dominant -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836573 -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836522 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency, adult-onset MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836522 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency, adult-onset MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:closeMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie unna-like scalp hypotrichosis MONDO:0012224 febrile seizures, familial, 6 skos:closeMatch OMIM:609253 febrile seizures, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609254 -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn5 -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012226 febrile seizures, familial, 5 skos:closeMatch OMIM:609255 febrile seizures, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836485 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609260 -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2a2a -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia2 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia2 -MONDO:0012233 Li-Fraumeni syndrome 2 skos:closeMatch OMIM:609265 li-fraumeni syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfs2 +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia2 MONDO:0012233 Li-Fraumeni syndrome 2 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609265 -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836474 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609270 -MONDO:0012237 nemaline myopathy 6 skos:closeMatch OMIM:609273 nemaline myopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nem6 MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609273 -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa2 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609283 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nem1 +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nem1 MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nemaline myopathy type 1 semapv:RegularExpressionReplacement +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement MONDO:0012240 nemaline myopathy 4 skos:closeMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 +MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement +MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa3 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609286 +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syncope, familial vasovagal MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial vasovagal MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial neurocardiogenic +MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome -MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome -MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome -MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc5 +MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609299 MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836395 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal dominant, fgf14-related MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609307 MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal dominant, fgf14-related +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609308 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2k +MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609310 -MONDO:0012249 Lynch syndrome 2 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coca2 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609311 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836336 -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836330 -MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mednik +MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma +MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mednik MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malignant rhabdoid tumor, somatic -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtps1 +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor, posterior fossa, of infancy, familial MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoid tumor, atypical MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at/rt MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor, posterior fossa, of infancy, familial -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609324 +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609324 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with miniepiphyses -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836307 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with miniepiphyses -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836307 MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836295 -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrorenodigital syndrome with limb malformations and triradiate acetabula +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609345 -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 +MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrorenodigital syndrome with limb malformations and triradiate acetabula +MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609352 +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 MONDO:0012259 colloid cysts of third ventricle skos:closeMatch OMIM:609363 colloid cysts of third ventricle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelial cysts of third ventricle -MONDO:0012260 cataract 35 skos:closeMatch OMIM:609376 cataract 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom4 locus -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 +MONDO:0012260 cataract 35 skos:closeMatch OMIM:609376 cataract 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom4 locus MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 -MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 4-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609402 -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 4-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609402 MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609403 MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pee4 MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609404 MONDO:0012267 holoprosencephaly 8 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609408 MONDO:0012268 AIDS skos:closeMatch NCIT:C2851 Acquired Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired immunodeficiency syndrome -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674949 +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, with ulnar hand anomalies -MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom-u MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom-u MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly, mesoaxial synostotic, with phalangeal reduction MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, mesoaxial synostotic, with phalangeal reduction +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly, mesoaxial synostotic, with phalangeal reduction MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609432 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836206 -MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, keratoconus, febrile seizures, and sinoatrial block MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, keratoconus, febrile seizures, and sinoatrial block +MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, keratoconus, febrile seizures, and sinoatrial block MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb48 +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609439 -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016524 -MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproate embryopathy, susceptibility to -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproic acid embryopathy -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valproate embryopathy, susceptibility to -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnkd3 +MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproate embryopathy, susceptibility to MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836173 MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609452 MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm4 MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 -MONDO:0012279 congenital muscular dystrophy merosin-positive skos:closeMatch OMIM:609456 muscular dystrophy, congenital, merosin-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, merosin-positive -MONDO:0012279 congenital muscular dystrophy merosin-positive skos:closeMatch OMIM:609456 muscular dystrophy, congenital, merosin-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, merosin-positive +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldberg-shprintzen syndrome +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goldberg-shprintzen syndrome MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609460 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goldberg-shprintzen syndrome -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldberg-shprintzen syndrome +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 MONDO:0012282 Al-Gazali syndrome skos:closeMatch Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609465 MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nede MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport/focal segmental glomerulosclerosis-like syndrome MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609470 -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stickler syndrome, atypical MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609524 MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filaminopathy, autosomal dominant MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, filamin c-related +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filaminopathy, autosomal dominant MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle filaminopathy -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm5 +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609524 MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 -MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of, taci-related MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of, taci-related -MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igad2 -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, susceptibility to +MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus, resistance to -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, resistance to MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus infection, response to therapy of +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, resistance to +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, susceptibility to MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb23 -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609533 +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609533 MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 -MONDO:0012295 complement component 5 deficiency skos:closeMatch OMIM:609536 complement component 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c5d MONDO:0012296 lipomyelomeningocele skos:closeMatch Orphanet:268835 Lipomyelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836022 -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609541 -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome -MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, optic atrophy, and neuropathy +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, optic atrophy, and neuropathy -MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome +MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, optic atrophy, and neuropathy +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 +MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal recessive MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nno2 MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 -MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc6 MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609558 -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion myopathy, tk2-related MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501891 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609560 +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion myopathy, tk2-related MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps2 MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609566 MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:closeMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr8 -MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609572 MONDO:0012304 photoparoxysmal response 2 skos:closeMatch OMIM:609572 photoparoxysmal response 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without idiopathic generalized epilepsy -MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609573 +MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609572 MONDO:0012305 photoparoxysmal response 3 skos:closeMatch OMIM:609573 photoparoxysmal response 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without myoclonic epilepsy +MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609573 MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609578 -MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch OMIM:609578 cardiomyopathy, familial restrictive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm2 -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865070 MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609579 MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scaphocephaly, maxillary retrusion, and mental retardation -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch NCIT:C74997 Joubert Syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865070 MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch NCIT:C74997 Joubert Syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012309 parietal foramina 2 skos:closeMatch OMIM:614161 PRDM5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfm2 -MONDO:0012309 parietal foramina 2 skos:closeMatch OMIM:609597 parietal foramina 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfm2 MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609597 -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia with synergistic divergence MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital fibrosis syndrome with synergistic divergence -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609612 +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia with synergistic divergence MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation -MONDO:0012312 short QT syndrome type 1 skos:exactMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sqts +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609612 MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sqt1 MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609620 MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609621 -MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sqt2 MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609622 -MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sqt3 +MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609621 MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609622 MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674937 MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609625 MONDO:0012315 distal 10q deletion syndrome skos:closeMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal chromosome type 10q26 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mjds -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864997 -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch NCIT:C119058 Majeed Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609628 +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym majeed syndrome +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 +MONDO:0012316 Majeed syndrome skos:closeMatch NCIT:C119058 Majeed Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteric neuropathy, familial +MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic intestinal, neuropathic MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic intestinal, neuropathic -MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609630 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls1 -MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609630 MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder, early-onset MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609634 -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch OMIM:609634 migraine, familial hemiplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhm3 -MONDO:0012321 Alzheimer disease 10 skos:exactMatch OMIM:602192 ADAM10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad10 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:602192 ADAM10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 -MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, lethal acantholytic -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, lethal acantholytic -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609638 -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebla -MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth deficiency, facial anomalies, and brachydactyly -MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, lethal acantholytic +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, lethal acantholytic MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609640 +MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth deficiency, facial anomalies, and brachydactyly MONDO:0012325 Nguyen syndrome skos:closeMatch OMIM:609643 nguyen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mca/mr with hypocholesterolemia due to familial hypobetalipoproteinemia -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb42 -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609646 -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb46 -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609647 -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilar cyst -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tricy1 +MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tricholemmal cyst +MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilar cyst +MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864784 +MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609655 MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609655 -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864784 MONDO:0012331 migraine with aura, susceptibility to, 9 skos:closeMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr9 MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb53 MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609706 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609727 -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857854 -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obairh -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proopiomelanocortin deficiency MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857854 +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proopiomelanocortin deficiency MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609741 +MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012339 celiac disease, susceptibility to, 4 skos:closeMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac4 MONDO:0012339 celiac disease, susceptibility to, 4 skos:closeMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012340 celiac disease, susceptibility to, 2 skos:closeMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012341 celiac disease, susceptibility to, 3 skos:closeMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac3 MONDO:0012341 celiac disease, susceptibility to, 3 skos:closeMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs triplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857844 -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somerville-van der aa syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857844 +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609782 MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad11 MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss2 -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853354 +MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:612793 PTDSS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss2 +MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853354 MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609800 MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:closeMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcfh -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and pancreatic exocrine dysfunction MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-pancreatic exocrine dysfunction syndrome +MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and pancreatic exocrine dysfunction MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609812 MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch OMIM:609813 spondylocostal dysostosis 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo3 -MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor h deficiency -MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfhd +MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853294 MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 -MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zd1 -MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement -MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch OMIM:609820 erythrocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt3 +MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zd1 MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609820 +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609821 MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853278 MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder due to p2ry12 defect -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdplt8 -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609823 -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb28 -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement -MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609888 MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, paucibacillary type, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity +MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609888 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835931 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609909 MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609913 @@ -23109,684 +20801,607 @@ MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopat MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609915 MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609923 -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835922 MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609924 +MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835922 MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb51 MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609941 -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609942 +MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb47 MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609946 -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb55 +MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609952 -MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch OMIM:609955 fibromatosis, gingival, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609955 -MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch OMIM:609955 fibromatosis, gingival, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggf3 -MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:closeMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt3 MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna53 MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609965 -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf5 MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency, formerly -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf4 +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609975 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label natural killer cell and glucocorticoid deficiency with dna repair defect -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd54 -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell and glucocorticoid deficiency with dna repair defect -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell deficiency, familial isolated MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell deficiency, familial isolated +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell and glucocorticoid deficiency with dna repair defect +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 4q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand3 MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:closeMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly -MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses with alopecia MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with ectodermal dysplasia MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia +MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses with alopecia MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteosclerosis with ichthyosis and premature ovarian failure MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteosclerosis with ichthyosis and premature ovarian failure MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis with ichthyosis and premature ovarian failure MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive, with mental retardation +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:607837 CLN8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:607837 CLN8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cln8 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cln8 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864912 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methylbutyryl glycinuria MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutamine deficiency, congenital +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine deficiency, congenital MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine synthase deficiency, congenital systemic +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutamine deficiency, congenital MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610015 -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch OMIM:610017 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syns2 MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch OMIM:610019 cataract 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012395 cataract 18 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhf7 -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, exercise-induced MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864902 +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610021 -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcd3a -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, exercise-induced +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, pde6h-related -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, symmetric or asymmetric +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pthsl1 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864738 -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital stromal +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, congenital stromal +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital stromal +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864738 MONDO:0012402 opioid dependence, susceptibility to, 1 skos:closeMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ods1 MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610069 -MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch OMIM:610069 polyposis syndrome, hereditary mixed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmps2 MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610071 -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, neonatal, pnpo-related -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpod -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610090 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, pyridoxine-resistant, plp-sensitive -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610090 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, and iris abnormalities -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb3 +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, neonatal, pnpo-related +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610092 -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, and iris abnormalities MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0012409 isolated microphthalmia 2 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610093 -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864706 +MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gan2 +MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 +MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864706 MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610100 MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 with giant axons semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610102 -MONDO:0012412 complement component 7 deficiency skos:closeMatch OMIM:610102 complement component 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c7d MONDO:0012412 complement component 7 deficiency skos:closeMatch OMIM:610102 complement component 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c7 deficiency -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset, with or without pituitary dysfunction -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610102 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864690 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset, with or without pituitary dysfunction +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, cathepsin d-deficient -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis due to cathepsin d deficiency +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610131 -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa4 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610131 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857829 -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 +MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 +MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610143 -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb62 -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, neovascular type, susceptibility to -MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, wet type, susceptibility to +MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement +MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, neovascular type, susceptibility to +MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, wet type, susceptibility to +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb49 +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610153 -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb44 +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610154 MONDO:0012422 type 1 diabetes mellitus 19 skos:closeMatch OMIM:610155 iia 1 diabetes mellitus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 -MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome -MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morms -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857802 +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610156 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd1 locus +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 +MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morms +MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd1 locus +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012426 immunodeficiency 25 skos:closeMatch OMIM:610163 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd25 +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lds2 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610181 -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch OMIM:610181 aicardi-goutieres syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags2 -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610181 MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq2 +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610187 -MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch OMIM:610187 diaphragmatic hernia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dih3 MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610189 +MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn6 -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857776 -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-methylglutaconic aciduria type 5 -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610198 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 5 +MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-methylglutaconic aciduria type 5 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ataxia -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, neonatal, with congenital hypothyroidism -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndh +MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610198 +MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857776 MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndh syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, neonatal, with congenital hypothyroidism +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610199 -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, pulverulent, juvenile-onset MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, pulverulent, juvenile-onset +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 MONDO:0012438 pontocerebellar hypoplasia type 5 skos:closeMatch OMIM:610204 pontocerebellar hypoplasia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar hypoplasia, fetal-onset MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym algs2 -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with pulsation MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr10 MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:closeMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr11 -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb66 -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 +MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation, pla2g6-related -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbia2b MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym karak syndrome MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610217 -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb59 +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853258 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610227 -MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853255 MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 +MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 +MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853250 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610246 +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012451 esophagitis, eosinophilic, 1 skos:closeMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophagitis, eosinophilic -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb65 MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610248 MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610250 -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol intolerance MONDO:0012454 alcohol sensitivity, acute skos:closeMatch OMIM:610251 alcohol sensitivity, acute semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hangover, susceptibility to -MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome -MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kleefstra syndrome +MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol intolerance MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome +MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kleefstra syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 9q34.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q- syndrome -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpa -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome +MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asgd2 -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002947 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:114850 CPA1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpa +MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002947 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 -MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, body mass-related MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt5 +MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, body mass-related MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, kidney function-related MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt6 -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610265 -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb67 -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement +MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610265 +MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, frontotemporal MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, frontotemporal MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853215 -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, frontotemporal MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610282 MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610283 -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610293 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol deficiency +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853205 +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610293 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigm deficiency MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610297 -MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park13 -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciss2 +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer aggressiveness MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610321 MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610329 -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags3 MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610333 -MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags4 -MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpa, familial -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial, with nocturnal wandering and ictal fear +MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial, with nocturnal wandering and ictal fear MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, kcnv2-related -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcd3b -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, kcnv2-related MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835896 -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 30, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610357 +MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 30, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610359 -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 +MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar4 MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610370 +MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm2 MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610374 -MONDO:0012481 mevalonic aciduria skos:closeMatch OMIM:610377 mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meva -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 +MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 +MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072219 -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 -MONDO:0012481 mevalonic aciduria skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hids -MONDO:0012481 mevalonic aciduria skos:exactMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hids -MONDO:0012481 mevalonic aciduria skos:exactMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mkd MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610379 MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch OMIM:610379 west nile virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnv, susceptibility to MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610381 -MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym face blindness MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, developmental +MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym face blindness MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, congenital MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb68 MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610419 MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610422 MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apmr2 -MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, resistance to MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, susceptibility to +MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610425 -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crsd -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, incomplete, autosomal recessive, formerly MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610427 -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, incomplete, autosomal recessive, formerly MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610430 MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nans deficiency -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type +MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864872 +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kdvs +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nans deficiency +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kdvs +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q21.31 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q21.31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610444 -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, rhodopsin-related -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012499 Buruli ulcer, susceptibility to skos:closeMatch OMIM:610446 buruli ulcer, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium ulcerans, susceptibility to -MONDO:0012499 Buruli ulcer, susceptibility to skos:closeMatch NCIT:C79622 Bud semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bud MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610448 -MONDO:0012500 chilblain lupus 1 skos:closeMatch OMIM:610448 chilblain lupus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chbl1 -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, normophosphatemic, familial -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, normophosphatemic, familial -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nftc MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcinosis, tumoral, with normophosphatemia -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, normophosphatemic, familial +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, normophosphatemic, familial MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial normophosphatemic tumoral calcinosis +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurine methyltransferase deficiency -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thpm1 -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610474 -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catshls -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864852 -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, tall stature, and hearing loss syndrome +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly, tall stature, and hearing loss syndrome +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, tall stature, and hearing loss syndrome +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864852 +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610474 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppnad2 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad2 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11, and mild palmoplantar keratoderma with or without woolly hair semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11, and mild palmoplantar keratoderma with or without woolly hair semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch OMIM:610478 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcd4 -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, microcephaly, and severe dermatitis -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, microcephaly, and severe dermatitis MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, microcephaly, and severe dermatitis +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, microcephaly, and severe dermatitis MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical nodular dysplasia, primary MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad1 -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppnad1 MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610489 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864843 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610498 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym concentric cardiomyopathy, hypotonia, and lactic acidosis -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, respiratory failure, and lactic acidosis +MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd3 -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, respiratory failure, and lactic acidosis +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym concentric cardiomyopathy, hypotonia, and lactic acidosis MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610508 +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination and congenital cataract: hcc MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610535 -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfdga MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864652 MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610536 -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864651 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 -MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 +MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi deletion syndrome -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts deletion syndrome MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts deletion syndrome +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi deletion syndrome MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 +MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, insulin-resistant, with acanthosis nigricans -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610549 MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans +MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610549 MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes simplex virus encephalitis MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm3 MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610582 MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610599 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency due to deficiency of steroid type 18-oxidase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-oxidase deficiency +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610612 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary angioedema with normal c1 inhibitor activity -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae3 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae with normal c1 inhibitor concentration and function -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 3 semapv:RegularExpressionReplacement MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 3 semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-related hae -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 3 semapv:RegularExpressionReplacement MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae with normal c1 inhibitor concentration and function +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary angioedema with normal c1 inhibitor activity MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11 with microphthalmia and neurodevelopmental abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cpp4 -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610623 MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp4 -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610623 MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh4 -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch OMIM:610629 diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba3 -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement +MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis and true hermaphroditism MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis and true hermaphroditism MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group b -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum b/cockayne syndrome MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpb/cs +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum b/cockayne syndrome +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 -MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht4 +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610655 -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857682 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610678 -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857682 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610685 MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610687 MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610688 MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610706 MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with labyrinthine aplasia, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with lamm -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610706 +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853144 MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with inner ear agenesis, microtia, and microdontia MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610708 -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdsd -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdsd -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder without ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch OMIM:610725 nephrotic syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs3 +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610725 +MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610733 -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn3 -MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agranulocytosis, infantile -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 +MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, recessive, of beauce -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610755 -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 +MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 +MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610759 -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls3 MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg im MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dk1 deficiency MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610768 -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpcd -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial phosphate carrier deficiency MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835845 MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610773 -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835829 +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpcd +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial phosphate carrier deficiency MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610798 +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835829 MONDO:0012562 holoprosencephaly 7 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610828 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch OMIM:610829 holoprosencephaly 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with microphthalmia and first branchial arch anomalies -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch NCIT:C176894 Fanconi Anemia, Complementation Group N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610832 -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group n MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group n +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610832 +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch NCIT:C176894 Fanconi Anemia, Complementation Group N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n MONDO:0012568 osteoarthritis susceptibility 4 skos:closeMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis, generalized, without dysplasia +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610840 MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvp3 -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe-like disorder with multiple coagulation factor deficiency +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610842 MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610852 @@ -23794,355 +21409,320 @@ MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary d MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sakoda spectrum MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate -MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch OMIM:610878 vesicoureteral reflux 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vur2 MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610878 -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch OMIM:610883 potocki-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch OMIM:610883 potocki-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptls -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610883 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931246 -MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch OMIM:610896 branchiootorenal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bor2 +MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610883 +MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch OMIM:610883 potocki-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610896 MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:closeMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and allergic rhinitis, susceptibility to -MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:closeMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt4 MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, acquired +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar lipoproteinosis, acquired MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary alveolar proteinosis, acquired +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, acquired MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, autoimmune -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar lipoproteinosis, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:605553 PAPOLA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970472 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931035 -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610921 -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdp3 -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610926 -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he-zhao deficiency MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:closeMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleb9 -MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:closeMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds7 -MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:closeMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcad2 +MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he-zhao deficiency +MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610926 MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:closeMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt7 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, severe epileptic, with autonomic dysfunction MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, syndromal, with intermittent hyperventilation -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pths +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xfe progeroid syndrome MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xfe progeroid syndrome -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970414 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 +MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 +MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 +MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610978 MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cahtp MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610978 -MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfid -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with factor i anomaly +MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463916 +MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with factor i anomaly MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610984 -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lprs4 -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, early-onset, susceptibility to MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610988 +MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, early-onset, susceptibility to MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970253 MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610992 -MONDO:0012596 PSAT deficiency skos:closeMatch OMIM:610992 phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psatd MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610997 -MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc9 -MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch OMIM:611010 fibromatosis, gingival, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggf4 MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611010 MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch OMIM:611010 fibromatosis, gingival, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611022 -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb24 -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekd2 +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611022 MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012604 isolated microphthalmia 3 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611038 -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 -MONDO:0012606 mycobacterium tuberculosis, susceptibility to, 2 skos:closeMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtbs2 -MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:closeMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt5 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsma4 +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970211 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsma4 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad12 MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611073 -MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmse -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyhydramnios-megalencephaly-symptomatic epilepsy syndrome +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt12 MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt5 -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 +MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt6 -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 +MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611093 -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611095 -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611097 MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611100 -MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, and male infertility -MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q15.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611102 -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial aspartyl-trna synthetase deficiency +MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q15.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, and male infertility MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial aspartyl-trna synthetase deficiency MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 +MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970173 +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611131 -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611134 +MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnkd2 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611152 MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611154 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmms +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hamamy syndrome +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970021 -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iih +MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iig MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgii/cog1 cerebrocostomandibular-like syndrome MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611209 -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and brain atrophy +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and brain atrophy +MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability, motor dysfunction, and joint contractures MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal recessive spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611225 -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611228 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970011 -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611228 MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611252 +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611263 MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611274 -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acad8 deficiency -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd deficiency -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase family, member type 8, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase family, member type 8, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd deficiency +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acad8 deficiency +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611291 MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhej1 syndrome -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611291 +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611302 -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969785 +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2l MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611308 MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611364 MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969655 -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614915 MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611369 -MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969652 -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 +MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 -MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 +MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969652 MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaza2 -MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaza3 -MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 +MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 +MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969645 +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia with leukoencephalopathy -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy +MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 -MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:closeMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt6 -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611407 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969623 MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome semapv:RegularExpressionReplacement MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legius syndrome +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome semapv:RegularExpressionReplacement +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb63 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611451 +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:narrowMatch ICD10CM:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbd4 +MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:closeMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticosteroid-binding globulin, elevated +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbg deficiency +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticosteroid-binding globulin, elevated +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611493 -MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb4 MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611494 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969093 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive, intermediate form MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969093 -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 MONDO:0012680 nephronophthisis 7 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611498 MONDO:0012681 febrile seizures, familial, 7 skos:closeMatch OMIM:611515 febrile seizures, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969086 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611528 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cavitary optic disc anomalies MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavitary optic disc anomalies -MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 -MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coda -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 -MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 +MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012689 premature ovarian failure 5 skos:closeMatch OMIM:611548 premature ovarian failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof5 -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611553 -MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611553 MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch OMIM:611554 leopard syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lprd2 MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611554 -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd0b -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611556 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611556 MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 -MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 MONDO:0012695 Meckel syndrome, type 5 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611561 MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2e, with or without neurologic involvement @@ -24150,140 +21730,127 @@ MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenbu MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969040 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611588 +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969038 -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, distal, with normal red cell morphology +MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 -MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with mild or no proximal muscle weakness +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611615 -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial mesial temporal lobe MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611630 MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, occipitotemporal lobe, and migraine with aura MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611631 -MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, adult MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611637 +MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, adult MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611638 -MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch OMIM:611638 microphthalmia, isolated, with coloboma 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb5 MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611644 MONDO:0012711 peripapillary atrophy, beta type skos:closeMatch OMIM:611650 peripapillary atrophy, beta iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ppa -MONDO:0012711 peripapillary atrophy, beta type skos:closeMatch OMIM:611650 peripapillary atrophy, beta iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppab -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch OMIM:611705 salih myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salmy -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch OMIM:611705 salih myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, early-onset, with fatal cardiomyopathy -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673677 -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eomfc +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, early-onset, with fatal cardiomyopathy MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia-brachydactyly and distinctive speech -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatoo dysplasia -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673649 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673649 +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatoo dysplasia MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, normocalciuric +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psapd -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined saposin deficiency -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined saposin deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611721 -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency -MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined saposin deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined saposin deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin a deficiency -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 +MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611726 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy type 3 semapv:RegularExpressionReplacement +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012722 Dauwerse-Peters syndrome skos:closeMatch OMIM:611733 dauwerse-peters syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, facial dysmorphism, severe brachydactyly, and syndactyly MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611755 MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611762 MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673198 -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611771 MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673196 -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611771 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673195 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hanac -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026691 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611775 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile polyarteritis +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026691 +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611775 +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch NCIT:C34825 Kawasaki Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611777 MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611783 -MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch OMIM:611783 erythrocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt4 -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thoracic aortic aneurysm with livedo reticularis and iris flocculi -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat6 MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 -MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1-minus trait -MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym el1 -MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein type 4.1 of erythrocyte membrane, defect of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thoracic aortic aneurysm with livedo reticularis and iris flocculi MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611804 +MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein type 4.1 of erythrocyte membrane, defect of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1-minus trait MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1- trait -MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:closeMatch OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym etinph MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bestrophinopathy, autosomal recessive MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bestrophinopathy, autosomal recessive -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arb MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611809 -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611812 -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678492 -MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym serkal MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611816 +MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678492 +MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611812 MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678486 +MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611816 MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch OMIM:611816 temple-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, and absent nails of hallux and pollex +MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 9, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012737 long QT syndrome 10 skos:closeMatch OMIM:611819 long qt syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 +MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 +MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 +MONDO:0012737 long QT syndrome 10 skos:closeMatch OMIM:611819 long qt syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 +MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia with nasolacrimal duct imperforation and eye coloboma +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with nasolacrimal duct imperforation and eye coloboma MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678482 MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611863 -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with nasolacrimal duct imperforation and eye coloboma -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia with nasolacrimal duct imperforation and eye coloboma +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678480 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611867 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611868 -MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc12 MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611875 MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611876 MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 @@ -24292,89 +21859,83 @@ MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopat MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611879 MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, autosomal recessive +MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611879 MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, autosomal recessive -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611880 -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, autosomal recessive MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase a deficiency -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase deficiency, red cell -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611880 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase a deficiency MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldoa deficiency -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd12 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aldolase deficiency +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase deficiency, red cell +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611884 +MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611884 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611890 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678471 MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611891 MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611895 -MONDO:0012754 nanophthalmos 3 skos:closeMatch OMIM:611897 nanophthalmos 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611897 -MONDO:0012755 episodic ataxia type 7 skos:closeMatch OMIM:611907 episodic ataxia, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea7 -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611907 +MONDO:0012754 nanophthalmos 3 skos:closeMatch OMIM:611897 nanophthalmos 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677843 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611907 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611926 -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis -MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc13 +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611928 MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611929 MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611938 -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpvt2 -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611943 MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677792 +MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611943 MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611944 MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611945 MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936880 -MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611955 MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611958 MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611959 -MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt7 -MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612001 -MONDO:0012775 thrombocytopenia 4 skos:closeMatch OMIM:612004 thrombocytopenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc4 MONDO:0012775 thrombocytopenia 4 skos:closeMatch OMIM:612004 thrombocytopenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 +MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 MONDO:0012776 celiac disease, susceptibility to, 7 skos:closeMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012777 celiac disease, susceptibility to, 8 skos:closeMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012778 celiac disease, susceptibility to, 9 skos:closeMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -24382,169 +21943,152 @@ MONDO:0012779 celiac disease, susceptibility to, 10 skos:closeMatch OMIM:612008 MONDO:0012780 celiac disease, susceptibility to, 11 skos:closeMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012781 celiac disease, susceptibility to, 12 skos:closeMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012782 celiac disease, susceptibility to, 13 skos:closeMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg in MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677590 MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612015 -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg in -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d4 -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677589 +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea and glucosuria, formerly -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctrct47 -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677586 MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612020 -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677567 -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 -MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 16 semapv:RegularExpressionReplacement MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 +MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677567 +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, tardbp-related MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, tardbp-related +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps5 +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 8b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, rrm2b-related -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps8a -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 8b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uric acid concentration, serum, quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhuc2 +MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612076 MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, neurologic defects, and endocrinopathy syndrome MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes -MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch OMIM:612095 retinitis pigmentosa 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, autosomal recessive, prominin-related +MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 +MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612095 +MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch OMIM:612095 retinitis pigmentosa 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, autosomal recessive, prominin-related MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mft2 MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 -MONDO:0012801 autism, susceptibility to, 15 skos:closeMatch OMIM:612100 autism, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts15 -MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocacs +MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mft2 MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schorderet-munier-franceschetti syndrome MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612109 MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauricular syndrome, schorderet type -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268187 -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalase deficiency +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268187 +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalose intolerance -MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia +MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1ds2 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842534 -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia +MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 +MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677349 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612138 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with pyloric atresia +MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612158 MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 23, with or without ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 +MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612165 -MONDO:0012815 Coats plus syndrome skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crmcc MONDO:0012815 Coats plus syndrome skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coats plus syndrome MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612201 -MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb6 -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015560 MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015560 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 MONDO:0012817 Ewing sarcoma skos:closeMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelioma, peripheral +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612225 -MONDO:0012819 diabetic ketoacidosis skos:closeMatch OMIM:612227 diabetes mellitus, ketosis-prone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpd MONDO:0012819 diabetic ketoacidosis skos:exactMatch NCIT:C50530 Diabetic Ketoacidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic ketoacidosis MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:closeMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:closeMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crcs3 MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:closeMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:closeMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:closeMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrosarcoma, extraskeletal myxoid -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emc MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrosarcoma, extraskeletal myxoid +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612240 -MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb7 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of infancy MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis, infantile +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of infancy +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis of infancy +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzon syndrome with acanthosis nigricans MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym can MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crouzon syndrome with acanthosis nigricans -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzon syndrome with acanthosis nigricans -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch NCIT:C43180 Can semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label can -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch NCIT:C43180 Can semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label can -MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:closeMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleb10 -MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:closeMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleb11 -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677092 +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612260 +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677092 MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612269 MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 8, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -24552,814 +22096,722 @@ MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary d MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612274 MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612279 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive, nipal4-related -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 +MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612284 +MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 +MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphlop1 -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphlop2 +MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 +MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612287 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612287 -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345382 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:190030 FES semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fps MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, hearing impairment, and cleft palate -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612290 MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia, hearing impairment, and cleft palate +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612290 +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, hearing impairment, and cleft palate MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612291 -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612292 -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type MONDO:0012856 Birk-Barel syndrome skos:closeMatch OMIM:612292 birk-barel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hypotonia and facial dysmorphism -MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612293 +MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type +MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612292 MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hacd59 +MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612293 MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd59 deficiency -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor, with hypogammaglobulinemia +MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612301 +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor, with hypogammaglobulinemia +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal recessive +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal recessive MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal recessive -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal recessive -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph4 MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal recessive -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal recessive +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal recessive MONDO:0012861 premature ovarian failure 6 skos:closeMatch OMIM:612310 premature ovarian failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof6 MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:closeMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor timing quantitative trait locus MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:closeMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digit span quantitative trait locus -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sas +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C45301 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch OMIM:612313 glass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glass MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label satb2-associated syndrome MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C45301 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C66821 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass -MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili incarnati -MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfb +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ingrown hairs -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 +MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili incarnati MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676732 -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 +MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protein s acquired deficiency -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph5 +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1qter deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal monosomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1qter deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q43-q44 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 +MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal monosomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jlns2 +MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd-eds -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsspd3 +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocheirodysplasia, ehlers-danlos syndrome-like -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, disseminated superficial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, disseminated superficial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612353 +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to heparin cofactor type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 2q32-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd14 +MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 2q32-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh5 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mafd7 -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001019 -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch OMIM:612376 acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute promyelocytic -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 -MONDO:0012883 acute promyelocytic leukemia skos:exactMatch OMIM:209500 atrichia with papular lesions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apl +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001019 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612376 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch OMIM:612376 acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute promyelocytic MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iq -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3150191 -MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ss2 +MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612387 MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612388 MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612389 -MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch OMIM:612389 pontocerebellar hypoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2b -MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch OMIM:612390 pontocerebellar hypoplasia, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2c MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612390 -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lh3 deficiency -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysyl hydroxylase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612394 MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysyl hydroxylase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lh3 deficiency MONDO:0012893 osteoarthritis susceptibility 5 skos:closeMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip -MONDO:0012893 osteoarthritis susceptibility 5 skos:closeMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os5 MONDO:0012894 osteoarthritis susceptibility 6 skos:closeMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt17 MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612406 MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt17 type -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 -MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015523 +MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f11 deficiency MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 MONDO:0012897 congenital factor XI deficiency skos:closeMatch NCIT:C131739 Factor XI Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xi deficiency -MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f11 deficiency MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612417 -MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch OMIM:612422 cardiomyopathy, familial restrictive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm3 MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612422 -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NCIT:C99022 Prekallikrein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkk deficiency -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fletcher factor deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prekallikrein deficiency +MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna27 MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb45 MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612433 -MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch OMIM:612437 epilepsy, progressive myoclonic, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm1b MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612437 -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612438 MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612438 +MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 +MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, arachnodactyly, and blindness +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scoliosis, arachnodactyly, and blindness MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676234 MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612445 -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scoliosis, arachnodactyly, and blindness -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, arachnodactyly, and blindness MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612446 MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 6 deficiency, subtotal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency, subtotal -MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6d MONDO:0012910 age-related hearing impairment 1 skos:closeMatch OMIM:612448 age-related hearing impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php1c +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612462 -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albright hereditary osteodystrophy without multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym albright hereditary osteodystrophy with multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pphp -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albright hereditary osteodystrophy without multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albright hereditary osteodystrophy without multiple hormone resistance MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albright hereditary osteodystrophy with multiple hormone resistance -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagro syndrome -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro +MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym albright hereditary osteodystrophy with multiple hormone resistance MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr syndrome with obesity -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro syndrome MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13-p12 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612469 -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro syndrome +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagro syndrome +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612474 +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612475 MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675891 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675875 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612513 -MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612518 MONDO:0012919 type 1 diabetes mellitus 20 skos:closeMatch OMIM:612520 iia 1 diabetes mellitus 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012920 type 1 diabetes mellitus 21 skos:closeMatch OMIM:612521 iia 1 diabetes mellitus 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012921 type 1 diabetes mellitus 22 skos:closeMatch OMIM:612522 iia 1 diabetes mellitus 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612526 -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch OMIM:612527 diamond-blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba4 -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement +MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch OMIM:612528 diamond-blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba5 +MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia2 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia2 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 +MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lethal myopathy, compton-north type -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 myopathy, congenital, compton-north semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mypcn -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 myopathy, congenital, compton-north semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, compton-north -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 myopathy, congenital, compton-north semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, compton-north -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, leukopenia, and atrial septal defect +MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 +MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 congenital myopathy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, compton-north MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675526 -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 -MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsgs4 +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, leukopenia, and atrial septal defect +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612551 -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brovca2 MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 -MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls3 +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612557 +MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls3 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls4 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612558 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612559 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls5 -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba6 +MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 +MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch OMIM:612562 diamond-blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba7 -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch OMIM:612563 diamond-blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba8 -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 +MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement +MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012942 lung cancer susceptibility 3 skos:closeMatch OMIM:612571 lung cancer susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lung, susceptibility to -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch OMIM:612572 retinitis pigmentosa 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, autosomal recessive, idh3b-related MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612572 -MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch OMIM:612572 retinitis pigmentosa 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, autosomal recessive, idh3b-related MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612576 -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612577 +MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement -MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612580 +MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612577 MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612580 MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612581 MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612582 MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675486 -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612582 MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:closeMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 14q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:closeMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 16q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crcs10 -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 19q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 +MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 19q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:closeMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 20p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch NCIT:C161799 MS3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ms3 -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement +MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612621 +MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0012961 type 1 diabetes mellitus 23 skos:closeMatch OMIM:612622 iia 1 diabetes mellitus 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd2 +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd3 +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612626 +MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd4 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenylate kinase deficiency, hemolytic anemia due to MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675459 MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612631 -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenylate kinase deficiency, hemolytic anemia due to MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 -MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:closeMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd5 +MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:closeMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd6 -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mvcd7 +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012972 febrile seizures, familial, 10 skos:closeMatch OMIM:612637 febrile seizures, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna59 MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna3b MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612643 +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna2b MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb1b MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612645 +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612649 -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612650 -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine-cerebroosteodysplasia -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eco -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endocrine-cerebroosteodysplasia MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612651 -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endocrine-cerebroosteodysplasia +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine-cerebroosteodysplasia MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch OMIM:612653 spherocytosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012982 episodic ataxia type 6 skos:closeMatch OMIM:612656 episodic ataxia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea6 -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 +MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612656 +MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612657 -MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract -MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharc -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch OMIM:612690 spherocytosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612690 -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral temporooccipital -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 +MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch OMIM:612690 spherocytosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral temporooccipital +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral temporooccipital MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym btop -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79b defect -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agm6 -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 +MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 +MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79b defect MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh6 +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612703 -MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch OMIM:612703 microcephaly 7, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph7 -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 -MONDO:0012991 Kahrizi syndrome skos:closeMatch OMIM:612713 kahrizi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym khrz +MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012991 Kahrizi syndrome skos:closeMatch OMIM:612713 kahrizi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, cataract, coloboma, and kyphosis, autosomal recessive -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612715 -MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duh2 -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, due to sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268468 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612716 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive, due to sepiapterin reductase deficiency +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, due to sepiapterin reductase deficiency MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675179 MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612718 -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301068 -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795969 -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccds2 -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612736 +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795969 +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301068 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612736 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, alad -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen synthase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute hepatic -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alad deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lead poisoning, susceptibility to +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doss porphyria MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alad deficiency MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen synthase deficiency +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lead poisoning, susceptibility to +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute hepatic +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, alad +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612775 MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia with situs inversus MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia, isolated -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia with situs inversus MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612776 -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612780 -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748572 +MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia with situs inversus MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sesames MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, ataxia, sensorineural deafness, and tubulopathy -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 +MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612780 +MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748572 MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd1b -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dwarfism of sindh -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd9 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd10 -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb71 MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612789 MONDO:0013011 atrial septal defect 5 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612794 +MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label question mark ears, isolated +MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears, isolated MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cosman deformity of the auricle -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym qme MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auricular cleft, congenital MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ears, prominent and constricted -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label question mark ears, isolated MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612798 -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears, isolated -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748544 MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612813 -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdag +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748544 MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 -MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 +MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym integrin activation deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013017 hypotrichosis 5 skos:closeMatch OMIM:612841 hypotrichosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt5 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612841 -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsd -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, autosomal dominant +MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612851 -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomyelitis, sterile multifocal, with periostitis and pustulosis MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748507 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1 receptor antagonist deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, sterile multifocal, with periostitis and pustulosis -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomyelitis, sterile multifocal, with periostitis and pustulosis -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 +MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 +MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cteph, dvt-negative, susceptibility to MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch NCIT:C36470 del(6q25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(6q25) +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612863 -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, subepithelial mucinous +MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch NCIT:C36470 del(6q25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(6q25) MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, subepithelial mucinous -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, subepithelial mucinous MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748503 -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q21.33 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior amorphous -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q21.33 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612868 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 +MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement -MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca9 +MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612877 -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, associated with chromosome type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 -MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:closeMatch OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eig8 +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612900 -MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpsq2 -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppks2 MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 +MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabrielli syndrome MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612913 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabrielli syndrome -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with skeletal anomalies -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch OMIM:612916 zechi-ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym occipital atretic cephalocele, unusual facies, and large feet -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612916 +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752047 +MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612916 +MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch OMIM:612916 zechi-ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym occipital atretic cephalocele, unusual facies, and large feet MONDO:0013037 Giacheti syndrome skos:closeMatch OMIM:612917 giacheti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus and specific language and learning disabilities MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipomatous overgrowth, vascular malformations, and epidermal nevi MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612918 MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, and epidermal nevi -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities -MONDO:0013039 3M syndrome 2 skos:closeMatch OMIM:612921 three m syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m2 +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612921 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus5 -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus6 -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 skos:closeMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtbs3 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase-beta deficiency -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752027 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd13 MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752027 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase-beta deficiency MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd11 +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg1(dpm3) -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg io +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752007 MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612937 -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, developmental delay, and facial dysmorphism +MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg io +MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg1(dpm3) MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, developmental delay, and facial dysmorphism -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gdfd +MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, developmental delay, and facial dysmorphism +MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 +MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751987 MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612940 -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612943 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751878 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612946 +MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, global cerebral MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartate-glutamate carrier type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, cystic, without megalencephaly MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751843 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, cystic, without megalencephaly -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch OMIM:612952 aicardi-goutieres syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags5 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612952 -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612953 -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751842 MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, adult-onset -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751842 +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612953 MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm6 +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612956 -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vf2 MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch OMIM:612961 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syns3 MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof7 MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal insufficiency, nr5a1-related -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, nr5a1-related MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy3 +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, nr5a1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, nr5a1-related MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, with or without adrenal failure MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 +MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013068 age-related hearing impairment 2 skos:closeMatch OMIM:612976 age-related hearing impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa7 -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612997 MONDO:0013070 spermatogenic failure 7 skos:closeMatch OMIM:612997 spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male infertility, nonsyndromic, autosomal recessive -MONDO:0013070 spermatogenic failure 7 skos:closeMatch OMIM:612997 spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf7 -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmd4 +MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612997 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4 with variable features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmd5 -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fneppk1 +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, focal nonepidermolytic palmoplantar MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkfne MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal nonepidermolytic palmoplantar keratoderma MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613000 +MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406612 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613002 +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013077 Santos syndrome skos:closeMatch OMIM:613005 santos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome MONDO:0013078 type 1 diabetes mellitus 24 skos:closeMatch OMIM:613006 iia 1 diabetes mellitus 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc2 -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 +MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc3 MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613011 -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroblastoma with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613014 -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nblst3 MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613015 MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613016 MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613017 -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym besc2 MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613021 MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613024 MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751651 @@ -25367,602 +22819,525 @@ MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751643 +MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc MONDO:0013091 glycogen storage disease IXc skos:closeMatch OMIM:613027 glycogen storage disease ixc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ixc -MONDO:0013092 glioma susceptibility 2 skos:closeMatch OMIM:613028 glioma susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glm2 +MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013092 glioma susceptibility 2 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613028 -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 -MONDO:0013093 glioma susceptibility 3 skos:closeMatch OMIM:613029 glioma susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glm3 MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 +MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 MONDO:0013094 glioma susceptibility 5 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613030 MONDO:0013095 glioma susceptibility 6 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613031 MONDO:0013096 glioma susceptibility 7 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613032 MONDO:0013097 glioma susceptibility 8 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613033 -MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to -MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nihl MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, noise-induced, susceptibility to +MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined pituitary hormone deficiencies, genetic forms MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613055 -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp5, susceptibility to -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefs+5, susceptibility to MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 -MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp5, susceptibility to +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefs+5, susceptibility to MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, t-cell acute lymphoblastic, susceptibility to +MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, b-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, t-cell acute lymphoblastic, susceptibility to MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all1 -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch NCIT:C64916 All semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label all -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, b-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all1 +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic +MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all2 MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613068 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration due to cerebral folate transport deficiency MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration due to cerebral folate transport deficiency -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613068 MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym besc3 +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandp2 MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613073 -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna50 +MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613074 MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement +MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613074 -MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, alopecia, cutis laxa, and scoliosis MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tall forehead, sparse hair, skin hyperextensibility, and scoliosis +MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, alopecia, cutis laxa, and scoliosis MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751321 MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613075 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613076 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751320 -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex deficiency, combined MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with cataract and combined respiratory chain deficiency -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa5 +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex deficiency, combined MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613077 +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and spontaneous chromosome instability without immunodeficiency MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb77 +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, complete, cbx2-related -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, cbx2-related +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, cbx2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613080 -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, cbx2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy5 MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613085 -MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc3d MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613086 MONDO:0013123 atrial septal defect 6 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613087 MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:closeMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvop2 -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lopez-gutierrez syndrome -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clapo +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613089 +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432197 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ren-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613092 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset hyperuricemia, anemia, and progressive kidney failure -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613092 +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ren-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013129 cone dystrophy 4 skos:closeMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 +MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 MONDO:0013129 cone dystrophy 4 skos:closeMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013129 cone dystrophy 4 skos:closeMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013129 cone dystrophy 4 skos:closeMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod4 -MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613094 MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613094 MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613095 -MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:173910 PKD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pkd2 -MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:173910 PKD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pkd2 -MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:607074 PRKD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pkd2 -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613096 +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613099 -MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm5 -MONDO:0013134 glaucoma 1, open angle, O skos:closeMatch OMIM:613100 glaucoma 1, open angle, o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glc1o MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613101 -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:605126 FHL5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhl5 -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:605126 FHL5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fhl5 -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613102 MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis and recurrent skin vesicles MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis and recurrent skin vesicles +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613102 MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613105 MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, progressive -MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cacd2 MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn2 MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613108 MONDO:0013140 candidiasis, familial, 4 skos:closeMatch OMIM:613108 candidiasis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous -MONDO:0013140 candidiasis, familial, 4 skos:closeMatch OMIM:613108 candidiasis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf4 MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613115 +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to histidine-rich glycoprotein deficiency MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to elevated histidine-rich glycoprotein MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to histidine-rich glycoprotein deficiency -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph11 -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to histidine-rich glycoprotein deficiency MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 -MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch NCIT:C98815 Antithrombin III Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antithrombin iii deficiency MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613118 +MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch NCIT:C98815 Antithrombin III Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antithrombin iii deficiency MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613119 MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 MONDO:0013146 Brugada syndrome 7 skos:closeMatch OMIM:613120 brugada syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613122 MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613122 MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613123 -MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome -MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome -MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pkdys MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 +MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, with or without drusen MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613144 -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 +MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomgnt1-related MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomgnt1-related +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fktn-related -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga5 +MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, fkrp-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga6 +MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, large-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt1-related MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb1 -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt2-related MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt2-related +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613157 -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2o MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2o MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2n MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613158 MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613161 -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upb1d MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ureidopropionase deficiency -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:137150 ABAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abat -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaba-transaminase deficiency -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba-transaminase deficiency -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:137150 ABAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abat +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342708 +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba-transaminase deficiency MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613163 +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaba-transaminase deficiency MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750805 MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613174 +MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750805 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613177 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750804 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch OMIM:613177 cutis laxa, autosomal recessive, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nucleoside phosphorylase deficiency -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613179 +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268125 +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613179 +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nucleoside phosphorylase deficiency MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750798 -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt13 +MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 +MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613194 MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch OMIM:613194 retinitis pigmentosa 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, concentric MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613195 -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to integrin alpha-7 deficiency -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to integrin alpha-7 deficiency -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613204 +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to integrin alpha-7 deficiency MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, lmna-related MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, lmna-related -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdcl -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613205 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhinoconjunctivitis, susceptibility to -MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asrt8 +MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia3 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia3 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613215 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750748 +MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613216 MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal epithelial cell dysplasia -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, congenital tufting MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613217 +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch NCIT:C183530 Diarrhea 5, with Tufting Enteropathy, Congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, congenital tufting -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, protection against -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lprs5 +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613223 -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, protection against MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613224 MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613225 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq3 -MONDO:0013189 trichotillomania skos:closeMatch OMIM:613229 trichotillomania semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttm +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613235 MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:closeMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spda3 MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613239 -MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttpp2 MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613244 MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:191092 TSC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tsc2 -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:613254 tuberous sclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 +MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:613254 tuberous sclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 angiomyolipomas, renal, modifier of -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:191092 TSC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191100 MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613254 -MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613265 MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613266 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fecd3 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 locus MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 locus -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fecd4 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd3 locus +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613269 +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613269 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613270 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fecd6 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd4 locus MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613271 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmndyt1 +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613271 +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia, polycythemia, and cirrhosis -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 +MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver disorder, alcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, nonalcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch NCIT:C84444 Nonalcoholic Fatty Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonalcoholic fatty liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver disorder, alcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb25 -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613286 -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613286 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613287 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750090 -MONDO:0013214 bile acid malabsorption, primary skos:closeMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbam -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb79 MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613307 -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch OMIM:613308 diamond-blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba9 +MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement +MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch OMIM:613309 diamond-blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba10 MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613310 -MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr5 MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613312 -MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr2 MONDO:0013220 hemochromatosis type 2B skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613313 -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613318 +MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:614581 MMD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mmd2 -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:614581 MMD2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmd2 -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613319 MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750076 -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdmdm +MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spondylometaphyseal dysplasia, mégarbané type MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750075 -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch OMIM:613325 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rtps2 MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613327 -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman-chitayat syndrome -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613328 -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis due to pai1 deficiency -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman-chitayat syndrome +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613329 +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis due to pai1 deficiency MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750066 MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613330 -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smmd MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 -MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch OMIM:613340 epilepsy, hot water, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hwe2 -MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe, lrat-related MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, lrat-related +MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613342 MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613342 MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjd +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613343 +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjd MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613345 -MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch OMIM:613345 hypokalemic periodic paralysis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hokpp2 -MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca2 MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613347 +MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca2 MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613348 MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca3 MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:closeMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal tunnel syndrome, susceptibility to -MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:closeMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnmn MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613355 +MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613364 -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013240 maturity-onset diabetes of the young type 10 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613370 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936793 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613371 -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936793 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613375 -MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch OMIM:613376 neuronopathy, distal hereditary motor, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch OMIM:613376 neuronopathy, distal hereditary motor, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn2c MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613376 +MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch OMIM:613376 neuronopathy, distal hereditary motor, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013244 brachydactyly type E2 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613382 -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym admfd +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613385 -MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch OMIM:613388 fanconi renotubular syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts2 MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613388 -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group o -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613390 MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch NCIT:C176910 Fanconi Anemia, Complementation Group O semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o +MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group o MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a, with vestibular dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a, with vestibular dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb84a +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613391 -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb85 +MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613392 MONDO:0013251 Birbeck granule deficiency skos:closeMatch OMIM:613393 birbeck granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birbeck granules, absence of +MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613398 +MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome +MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warsaw breakage syndrome -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brovca3 -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 +MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcsz +MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613402 MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613404 -MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcs2 -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkos -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkos MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witteveen-kolk syndrome -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613407 -MONDO:0013258 autism, susceptibility to, 16 skos:closeMatch OMIM:613410 autism, susceptibility to, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts16 MONDO:0013258 autism, susceptibility to, 16 skos:closeMatch OMIM:613410 autism, susceptibility to, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism with or without seizures +MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613411 -MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613428 MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613435 -MONDO:0013265 autism, susceptibility to, 17 skos:closeMatch OMIM:613436 autism, susceptibility to, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts17 -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q14.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body mass index quantitative trait locus type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fnd2 MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb91 MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613453 -MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rett syndrome, congenital variant -MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome, congenital variant +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613454 -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fnd3 +MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome, congenital variant +MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rett syndrome, congenital variant MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613457 MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613458 MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613464 -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613470 MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748397 MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 @@ -25972,59 +23347,50 @@ MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy dis MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 +MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iij MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613489 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym a1atd -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 -MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid3 -MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd19 defect +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid4 -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 +MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd19 defect MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to baffr defect +MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd20 defect -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid5 -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid6 -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd81 defect MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613496 +MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd81 defect MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 +MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agm3 MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79a defect -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agm4 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to blnk defect -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to lrrc8a defect -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agm5 -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 +MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 +MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to lrrc8a defect +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder with severe cardiomyopathy due to glycogenin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613507 -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd15 MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenin deficiency -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613509 MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior nonsyndromic MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26034,139 +23400,126 @@ MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalm MONDO:0013294 dermatitis, atopic, 8 skos:closeMatch OMIM:613518 dermatitis, atopic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, severity of MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613523 +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:closeMatch Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613530 MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613533 MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:closeMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 6q13-q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transverse cleft, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral cleft, isolated -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrostomia, isolated -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrostomia, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym commissural cleft, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrostomia, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transverse cleft, isolated MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613545 -MONDO:0013301 aromatase deficiency skos:closeMatch OMIM:613546 aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, due to placental aromatase deficiency -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrostomia, isolated +MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613546 -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 +MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 +MONDO:0013301 aromatase deficiency skos:closeMatch OMIM:613546 aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, due to placental aromatase deficiency MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613550 -MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:closeMatch OMIM:613551 autoimmune disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ais6 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 9q21.11 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna51 -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613559 MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlasa2 MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613561 +MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbl mutation-associated syndrome MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia -MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsll -MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbl mutation-associated syndrome -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 MONDO:0013308 CBL-related disorder skos:closeMatch NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to por deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edss1 +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613575 -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613576 MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613581 MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613582 +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:613587 occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omd MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613587 MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omd MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:613587 occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:exactMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omd -MONDO:0013316 occult macular dystrophy skos:exactMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omd MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613600 MONDO:0013318 early repolarization associated with ventricular fibrillation skos:closeMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early repolarization syndrome +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613604 -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label forsythe-wakeling syndrome MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym forsythe-wakeling syndrome +MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label forsythe-wakeling syndrome +MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613608 -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ced2 MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia and lymphedema +MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia and lymphedema -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlph +MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia and lymphedema MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613611 -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch OMIM:613612 congenital disorder of glycosylation, iia iii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iii MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613612 +MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch OMIM:613612 congenital disorder of glycosylation, iia iii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iii +MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn7 MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613615 -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch OMIM:613616 hyperoxaluria, primary, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp3 -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 +MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613617 +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f5f8d2 MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613625 +MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613630 MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst reactivity, absence of MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst1 MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 19p13.13 microdeletion syndrome MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613638 MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13.13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate b MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613641 MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613642 MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613643 -MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park5 MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria, transient, due to transcobalamin receptor defect MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, transient, due to transcobalamin receptor defect MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type @@ -26175,524 +23528,460 @@ MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spast MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613647 MONDO:0013343 C1Q deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613652 -MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMatch OMIM:613656 migraine with or without aura, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr13 MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMatch OMIM:613656 migraine with or without aura, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMatch OMIM:613656 migraine with or without aura, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with or without aura, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613657 MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d2hga2 MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613657 MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch OMIM:613660 cone-rod dystrophy 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613661 -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, polg-related MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps4b +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, polg-related -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, postnatal progressive, with seizures and brain atrophy MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, postnatal progressive, with seizures and brain atrophy -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with language impairment and with or without autistic features +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613670 -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, anterior maxillary protrusion, and strabismus +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with language impairment and with or without autistic features MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrams +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, anterior maxillary protrusion, and strabismus MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613671 -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613672 -MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 semapv:RegularExpressionReplacement MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome +MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613672 MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 -MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch OMIM:613674 vesicoureteral reflux 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vur3 MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613674 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microduplication syndrome +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613676 MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613677 -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch OMIM:613677 hyperaldosteronism, familial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hald3 MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch OMIM:613677 hyperaldosteronism, familial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch NCIT:C127163 Familial Hyperaldosteronism Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 3 -MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fh3 -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch OMIM:613678 brachyolmia iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcym2 MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613678 -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020640 +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin deficiency, congenital MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin deficiency, congenital +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020640 +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613679 -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin deficiency, congenital -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beaulieu-boycott-innes syndrome +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613680 MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, type 2q31.1 duplication-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613681 -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 +MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, type 2q31.1 duplication-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts2 -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613685 MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb83 +MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch OMIM:613686 spondylocostal dysostosis 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo4 MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch OMIM:613689 mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdns MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613689 -MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 -MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 6, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 +MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 +MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613694 -MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 5, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 5, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613697 MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs3 MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613702 MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch OMIM:613703 microphthalmia, isolated, with coloboma 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb6 MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613703 MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613704 -MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613705 -MONDO:0013378 orofacial cleft 10 skos:closeMatch OMIM:613705 orofacial cleft 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc10 -MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613706 -MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement +MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch OMIM:613707 leopard syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lprd3 +MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613706 MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613707 MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613708 +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal necrosis, bilateral, and progressive polyneuropathy MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thmd4 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis -MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600156 MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613711 -MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch OMIM:613711 hirschsprung disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hscr3 -MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch OMIM:613712 hirschsprung disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hscr4 MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613712 -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcs2 MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb74 MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613718 MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613720 -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch NCIT:C172096 Developmental and Epileptic Encephalopathy 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613721 -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 +MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch NCIT:C172096 Developmental and Epileptic Encephalopathy 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2q +MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613723 +MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2q +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with dystonia and motor neuropathy MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with dystonia and motor neuropathy -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lkdmn -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 7q11.23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613729 +MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 7q11.23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic destruction of the brain, subependymal calcification, and cataracts -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdbscc -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhagic destruction of the brain, subependymal calcification, and cataracts MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613730 -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhagic destruction of the brain, subependymal calcification, and cataracts +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic destruction of the brain, subependymal calcification, and cataracts MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch OMIM:613731 retinitis pigmentosa 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, rhodopsin-related -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brmutd -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain malformations with or without urinary tract defects +MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations with or without urinary tract defects -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain malformations with or without urinary tract defects MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acninv2 -MONDO:0013398 acne inversa, familial, 3 skos:closeMatch OMIM:613737 acne inversa, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acninv3 +MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613743 MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613744 MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613750 MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613751 -MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx4 +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613752 +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151058 MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151058 -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613752 MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613756 MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613758 -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fadd deficiency MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fadd deficiency MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613759 -MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy6 MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, map3k1-related +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, map3k1-related +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital lamellar +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613767 MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613769 -MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3 deficiency, autosomal recessive MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613779 MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 +MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613779 MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:120700 C3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial, with or without aortic aneurysm -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat7 +MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 -MONDO:0013419 complement component C1s deficiency skos:closeMatch OMIM:613783 complement component c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1sd -MONDO:0013419 complement component C1s deficiency skos:closeMatch OMIM:613783 complement component c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1s deficiency +MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial, with or without aortic aneurysm MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613783 -MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013419 complement component C1s deficiency skos:closeMatch OMIM:613783 complement component c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1s deficiency MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8d2 -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8b deficiency -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613789 +MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 8b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8b deficiency MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 beta deficiency -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8d1 -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 alpha-gamma deficiency -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8ag deficiency +MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613789 MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613790 +MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8ag deficiency +MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 alpha-gamma deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masp2 deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label masp2 deficiency MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label masp2 deficiency -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masp2 deficiency MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal monosomy 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613792 MONDO:0013424 3p- syndrome skos:closeMatch NCIT:C41377 del(3p25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(3p25) MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613794 +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 3 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome with osteoarthritis MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysms-osteoarthritis syndrome -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lds3 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31b, mycobacterial and viral infections, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31b MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal recessive MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors2 +MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613801 MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors3 -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 +MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors4 MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613804 -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613805 -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors5 +MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613805 +MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholangitis, primary sclerosing MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613806 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholangitis, primary sclerosing -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholangitis, primary sclerosing -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613809 MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613810 MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613811 MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellocerebral atrophy, progressive -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2d -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151147 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613818 -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2p +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613819 -MONDO:0013442 nephronophthisis 12 skos:closeMatch OMIM:613820 nephronophthisis 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013442 nephronophthisis 12 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613820 +MONDO:0013442 nephronophthisis 12 skos:closeMatch OMIM:613820 nephronophthisis 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613823 MONDO:0013444 nephronophthisis 9 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613824 -MONDO:0013445 complement component 9 deficiency skos:closeMatch OMIM:613825 complement component 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c9d MONDO:0013445 complement component 9 deficiency skos:closeMatch OMIM:613825 complement component 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c9 deficiency MONDO:0013445 complement component 9 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613825 MONDO:0013446 Leber congenital amaurosis 6 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613826 MONDO:0013447 retinitis pigmentosa 48 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613827 MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613828 MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613829 -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613830 -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613834 +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch OMIM:613834 multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613834 MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613835 MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613837 MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613839 MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia due to dihydrofolate reductase deficiency +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613839 MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megaloblastic anemia due to dihydrofolate reductase deficiency -MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613843 MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch OMIM:613843 leber congenital amaurosis 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, tulp1-related -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupras -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome +MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613843 MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613845 +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 +MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 MONDO:0013461 inosine triphosphatase deficiency skos:closeMatch OMIM:613850 inosine triphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inosine triphosphate pyrophosphohydrolase deficiency -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chtd6 -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transposition of the great arteries, dextro-looped type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613854 -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866039 +MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transposition of the great arteries, dextro-looped type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613855 -MONDO:0013464 episodic ataxia type 5 skos:closeMatch OMIM:613855 episodic ataxia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea5 +MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866039 MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613856 +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcn3 deficiency MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613860 -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcn3 deficiency MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613861 MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch OMIM:613862 retinitis pigmentosa 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod-cone dystrophy, childhood-onset MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613862 -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp7 -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613863 -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb61 +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm, fatal infantile hypertonic, alpha-b crystallin-related +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613869 +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcad -MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with plin1 mutations MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613877 +MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with plin1 mutations MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 13q14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613884 +MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 13q14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613885 -MONDO:0013483 obesity, hyperphagia, and developmental delay skos:closeMatch OMIM:613886 obesity, hyperphagia, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obhd -MONDO:0013483 obesity, hyperphagia, and developmental delay skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obhd MONDO:0013484 cataract 36 skos:closeMatch OMIM:613887 cataract 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613908 +MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613908 MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613909 MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor d deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor d deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor d deficiency -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfdd MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613912 +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, associated with c3 nephritic factor MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb89 -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613916 +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613925 -MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch OMIM:613993 MYL7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2a -MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2a +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2b MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acaca deficiency MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc1 deficiency -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa carboxylase deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acaca deficiency MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa carboxylase deficiency -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613943 +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa carboxylase deficiency MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613943 +MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, late-onset MONDO:0013497 Okt4 epitope deficiency skos:closeMatch OMIM:613949 okt4 epitope deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t4 epitope deficiency -MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 15 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q13-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613951 +MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 15 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group p MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group p +MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613951 +MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive +MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:613953 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:613953 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd51 MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 -MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 -MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plca2 +MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613956 -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf6 -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant +MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613957 -MONDO:0013504 spermatogenic failure 8 skos:closeMatch OMIM:613957 spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf8 -MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, complete -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 -MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf9 MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 +MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, total -MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 7q36.3-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, complete MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613960 +MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 7q36.3-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613960 MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613970 MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 6, with or without seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613972 -MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm6 -MONDO:0013511 cyanosis, transient neonatal skos:closeMatch OMIM:613977 cyanosis, transient neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tncy MONDO:0013511 cyanosis, transient neonatal skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613977 -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613978 -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch NCIT:C95504 Hemoglobin H Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613980 -MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch OMIM:613980 atrial fibrillation, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb9 -MONDO:0013514 hypotrichosis 3 skos:closeMatch OMIM:613981 hypotrichosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt3 MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613981 -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 +MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 +MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613983 -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-thalassemia -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia -MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch OMIM:613986 pituitary hormone deficiency, combined, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cphd6 +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-thalassemia MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613986 MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613987 +MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613988 MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26700,191 +23989,149 @@ MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orpha MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset, with osteolysis MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614008 -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdplt13 -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614018 MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 MONDO:0013527 lissencephaly 4 skos:closeMatch OMIM:614019 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013527 lissencephaly 4 skos:closeMatch OMIM:614019 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis4 MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt14 MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpvt3 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614021 MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614022 -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch OMIM:614022 atrial fibrillation, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb10 MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614023 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic lipase deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic lipase deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipc deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia due to hepatic triacylglycerol lipase deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic lipase deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614025 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipc deficiency -MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614028 +MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:closeMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxalase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch OMIM:614034 heme oxygenase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmox1d MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614034 -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614035 -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb29 +MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614037 MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279662 -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614038 -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, primary, with myelodysplasia MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, primary, with myelodysplasia +MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, primary, with myelodysplasia +MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614038 MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614042 -MONDO:0013542 Moyamoya disease 5 skos:closeMatch OMIM:614042 moyamoya disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mymy5 -MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch OMIM:614049 atrial fibrillation, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb11 MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614049 MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614050 -MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch OMIM:614050 atrial fibrillation, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb12 -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614052 MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tmem70-related mitochondrial encephalo-cardio-myopathy +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614052 +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614053 -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa acetyltransferase-2 deficiency -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa acetyltransferase-2 deficiency MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2 deficiency -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2d -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:601311 SOAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2 -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:100678 ACAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2 -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:100678 ACAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acat2 MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:100678 ACAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetocoenzyme a acetyltransferase type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoacetylaspartia +MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa acetyltransferase-2 deficiency +MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa acetyltransferase-2 deficiency MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naa deficiency -MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naced -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoacetylaspartia MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams distal myopathy +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpd4 MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614066 MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 47, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 47, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614067 -MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch OMIM:614069 immunodeficiency-centromeric instability-facial anomalies syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icf2 +MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614069 -MONDO:0013554 psoriasis 13, susceptibility to skos:closeMatch OMIM:614070 psoriasis 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psors13 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch OMIM:606118 HPS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps3 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch OMIM:606118 HPS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hps3 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch OMIM:614072 hermansky-pudlak syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps3 MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch OMIM:614073 hermansky-pudlak syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps4 -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch OMIM:606682 HPS4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps4 -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch OMIM:606682 HPS4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hps4 -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 +MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch OMIM:614074 hermansky-pudlak syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps5 +MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch OMIM:607521 HPS5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps5 -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch OMIM:607521 HPS5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hps5 -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch OMIM:607522 HPS6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hps6 -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch OMIM:614075 hermansky-pudlak syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps6 -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch OMIM:607522 HPS6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hps6 MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 +MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614079 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcahs1 +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahp -MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhaptoglobinemia MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahaptoglobinemia -MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anhaptoglobinemia MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group g -MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch OMIM:602956 FANCG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancg -MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch OMIM:602956 FANCG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancg -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614082 MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch NCIT:C125708 Fanconi Anemia, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch OMIM:608111 FANCL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fancl -MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch OMIM:608111 FANCL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fancl +MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614082 +MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group g MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614083 MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614090 -MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch OMIM:614090 sick sinus syndrome 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss3 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic mitochondrial, fatal infantile MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614097 MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268419 -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keppen-lubinsky syndrome MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kplbs -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ced3 -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keppen-lubinsky syndrome +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, neonatal, with marfanoid phenotype MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614100 MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432335 +MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, neonatal, with marfanoid phenotype MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis laxa, neonatal, with marfanoid phenotype +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin kappa light chain deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kappa chain deficiency -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igkcd MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin kappa light chain deficiency -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency MONDO:0013577 Lipedema skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614104 -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement +MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdhd +MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614104 MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614105 MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279840 -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-beta deficiency -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279841 +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-beta deficiency +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614113 @@ -26892,2537 +24139,2055 @@ MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C1689 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614114 +MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva2 -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym occm MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical malformations, occipital -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical malformations, occipital MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614115 -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with hearing loss and dementia -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical malformations, occipital MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614116 +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with hearing loss and dementia MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614120 -MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch OMIM:614120 hydrolethalus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hls2 -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch OMIM:614128 lactate dehydrogenase B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ldhbd -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279904 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279904 +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614129 MONDO:0013588 Perrault syndrome 3 skos:closeMatch OMIM:614129 perrault syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 81, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013588 Perrault syndrome 3 skos:closeMatch OMIM:614129 perrault syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts3 -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch OMIM:614134 stickler syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stl4 +MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 -MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch OMIM:614135 epiphyseal dysplasia, multiple, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edm6 MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614135 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndnc9 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onycholysis, isolated -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna64 -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614152 -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614153 -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NCIT:C148316 Spinocerebellar Ataxia Type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614153 +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614156 -MONDO:0013595 hyperbiliverdinemia skos:closeMatch OMIM:614156 hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hblvd -MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thromboxane synthetase deficiency MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thromboxane synthetase deficiency +MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle hypertrophy MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle hypertrophy -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31c -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement -MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dspd -MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label delayed sleep phase disorder, susceptibility to MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delayed sleep phase disorder, susceptibility to -MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpxd -MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione peroxidase deficiency +MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label delayed sleep phase disorder, susceptibility to MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione peroxidase deficiency +MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione peroxidase deficiency MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614165 -MONDO:0013602 paragangliomas 5 skos:closeMatch OMIM:614165 paragangliomas 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl5 -MONDO:0013604 myopia 21, autosomal dominant skos:closeMatch OMIM:614167 myopia 21, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp21 -MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcs2 MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614170 -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 +MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch NCIT:C126349 GATA2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gata2 deficiency -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd21 +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614173 MONDO:0013609 Meckel syndrome, type 10 skos:closeMatch OMIM:614175 meckel syndrome, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013609 Meckel syndrome, type 10 skos:closeMatch OMIM:614175 meckel syndrome, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks10 MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614180 MONDO:0013611 retinitis pigmentosa 62 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614181 -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gphysd2 -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614185 MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614185 +MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614186 -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, preauricular sinus, punctal pits, and deafness MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614187 +MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, preauricular sinus, punctal pits, and deafness MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertelorism, preauricular sinus, punctal pits, and deafness -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch OMIM:614188 craniosynostosis and dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crsda -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614188 MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis-dental anomalies +MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614188 MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppnad3 MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad3 -MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:closeMatch OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caasds -MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch OMIM:614196 nephrotic syndrome, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs6 MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614196 MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 +MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, acetazolamide-responsive -MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:closeMatch OMIM:614199 nephrotic syndrome, iia 5, with or without ocular abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs5 -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to integrin alpha2-beta1 deficiency MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to integrin alpha2-beta1 deficiency MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gp type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gp type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 -MONDO:0013625 Parkinson disease 17 skos:closeMatch OMIM:614203 parkinson disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park17 MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614203 -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpp -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 -MONDO:0013626 psoriasis 14, pustular skos:closeMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pustular psoriasis +MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 +MONDO:0013626 psoriasis 14, pustular skos:closeMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pustular psoriasis MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614205 -MONDO:0013627 3M syndrome 3 skos:closeMatch OMIM:614205 three m syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m3 -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch OMIM:614209 meckel syndrome, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks9 MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614209 -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna33 -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614211 MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614212 -MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae4 MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614213 MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614219 -MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch OMIM:614219 adams-oliver syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos2 +MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc4 -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc5 -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614222 +MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614223 -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614224 MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arterial macroaneurysm with supravalvular pulmonic stenosis MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arterial macroaneurysm with supravalvular pulmonic stenosis -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsvps -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614224 MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614225 +MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013642 holoprosencephaly 11 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614226 MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614228 -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614229 MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614230 -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614233 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph1 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 -MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013649 hypotrichosis 9 skos:closeMatch OMIM:614237 hypotrichosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt9 MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614237 -MONDO:0013650 hypotrichosis 10 skos:closeMatch OMIM:614238 hypotrichosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt10 MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614238 -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:605042 MED23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label med23 -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:605042 MED23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med23 MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt18 +MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614250 -MONDO:0013652 narcolepsy 7 skos:closeMatch OMIM:614250 narcolepsy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nrclp7 -MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park18 MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614251 -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 +MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndhmsd -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614254 +MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch NCIT:C133742 Mental Retardation, Autosomal Dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614255 -MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614256 -MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614257 +MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614261 -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch OMIM:614261 microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miccap -MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:closeMatch OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apug -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614265 -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 -MONDO:0013662 Barrett esophagus skos:exactMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cle -MONDO:0013662 Barrett esophagus skos:exactMatch OMIM:610858 RTRAF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cle -MONDO:0013662 Barrett esophagus skos:exactMatch NCIT:C89327 Be semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label be +MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of esophagus MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barrett metaplasia -MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:closeMatch OMIM:614278 platelet-activating factor acetylhydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pafad -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy8 +MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 +MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to deficiency of testicular type 17,20-desmolase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614279 +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614279 MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614280 -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch OMIM:614284 stickler syndrome, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stl5 -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 -MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614290 MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795868 -MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brovca4 +MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614291 MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614292 -MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcvd -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydm2 MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280358 -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram-like syndrome, autosomal dominant MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram-like syndrome, autosomal dominant MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, progressive, with optic atrophy and/or impaired glucose regulation -MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram-like syndrome, autosomal dominant -MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wfsl -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement +MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 +MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280358 MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial membrane protein-associated neurodegeneration MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614298 -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds2 +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614299 -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds2 -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmd7 -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edict -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus with cataract +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280392 MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614303 -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614305 -MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:closeMatch OMIM:614306 cognitive impairment with or without cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciat -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch OMIM:604489 AMACR semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amacr -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch OMIM:604489 AMACR semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amacr MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614307 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280428 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amacr deficiency -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch OMIM:614307 alpha-methylacyl-coa racemase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amacrd MONDO:0013682 vesicoureteral reflux 4 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614317 MONDO:0013683 vesicoureteral reflux 5 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614318 MONDO:0013684 vesicoureteral reflux 6 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614319 -MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch OMIM:614320 pancreatic cancer, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca4 MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614320 MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614321 -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch OMIM:614321 myopathy, distal, tateyama iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpdt -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614322 -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with mental retardation and epilepsy -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lwnh +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614322 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, progressive cribriform and zosteriform -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevoid hypermelanosis, linear and whorled MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevoid hypermelanosis, linear and whorled -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lwnh -MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch OMIM:614324 ovarian dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg3 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevoid hypermelanosis, linear and whorled MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614324 -MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:closeMatch OMIM:614325 pitt-hopkins-like syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pthsl2 -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with short stature and microcephaly -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614327 MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch NCIT:C172639 BAP1 Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bap1 tumor predisposition syndrome MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614328 -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisbd1 -MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 +MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614331 -MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch OMIM:614331 colorectal cancer, hereditary nonpolyposis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hnpcc6 -MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614333 MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch OMIM:614335 arthrogryposis, distal, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da1b +MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614333 MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614335 MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614337 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnlipd -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic lipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase, congenital absence of pancreatic MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic colipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase, congenital absence of pancreatic MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, deficiency of -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt27 -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colipase, congenital absence of pancreatic +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, congenital absence of pancreatic +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic lipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614340 -MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt27 MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614341 -MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614342 +MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 +MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614342 MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614344 +MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614344 MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 -MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 +MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614350 -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnmhh +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614369 MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy, myopathy, hoarseness, and hearing loss MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral neuropathy, myopathy, hoarseness, and hearing loss -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614369 -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2rb deficiency +MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2rb deficiency -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdp5 -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to +MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, protection against MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue hemorrhagic fever, susceptibility to +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, susceptibility to -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, protection against -MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl deficiency MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl2 deficiency -MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbp deficiency +MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl deficiency MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbld -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbp deficiency MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614373 +MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614375 MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614376 MONDO:0013718 nephronophthisis 13 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614377 -MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch OMIM:614378 cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ced4 MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614378 MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614379 -MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4b deficiency MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4bd -MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4ad -MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4a deficiency +MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4b deficiency +MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614379 MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4a deficiency MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614380 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859301 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with endosteal sclerosis MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013723 bacteremia, susceptibility to, 1 skos:closeMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bacts1 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013723 bacteremia, susceptibility to, 1 skos:closeMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bacteremia, resistance to -MONDO:0013724 bacteremia, susceptibility to, 2 skos:closeMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bacts2 MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614385 -MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch OMIM:614385 colorectal cancer, hereditary nonpolyposis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hnpcc7 -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym empf1 MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614388 -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym empf MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonic loss, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpl -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl +MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abortion, spontaneous, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal loss, recurrent, susceptibility to -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl1 +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miscarriage, recurrent -MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:closeMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl2 -MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:closeMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl3 -MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonic loss, recurrent +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpl MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, resistance to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 +MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018651 -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, areflexia, respiratory distress, and dysphagia, early-onset -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614399 -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emardd +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emardd -MONDO:0013732 glucocorticoid therapy, response to skos:closeMatch OMIM:614400 glucocorticoid therapy, response to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gctr -MONDO:0013734 microphthalmia, syndromic 11 skos:closeMatch OMIM:614402 microphthalmia, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops11 -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614399 +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zaki-gleeson syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mchccd +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614409 -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614414 -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb96 -MONDO:0013739 chilblain lupus 2 skos:closeMatch OMIM:614415 chilblain lupus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chbl2 MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614415 -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiohumeral fusions with other skeletal and craniofacial anomalies MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiohumeral fusions with other skeletal and craniofacial anomalies -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhfca MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614416 -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiohumeral fusions with other skeletal and craniofacial anomalies MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614417 -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feb11 -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 MONDO:0013744 cataract 37 skos:closeMatch OMIM:614422 cataract 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 +MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013746 ventricular septal defect 1 skos:closeMatch OMIM:614429 ventricular septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vsd1 -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch OMIM:614430 atrioventricular septal defect 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd4 -MONDO:0013748 ventricular septal defect 2 skos:closeMatch OMIM:614431 ventricular septal defect 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vsd2 -MONDO:0013749 ventricular septal defect 3 skos:closeMatch OMIM:614432 ventricular septal defect 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vsd3 +MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013750 atrial septal defect 8 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614433 MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch OMIM:614434 cutis laxa, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcl2 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 -MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlhs2 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614435 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2g +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837805 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 +MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phoar2 +MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614441 +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614455 MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma and renal cell carcinoma, susceptibility to -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm8 +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic quadriplegia, and mental retardation MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isqmr -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614458 MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thmd5 -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycinemia, lactic acidosis, and seizures -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hgclas +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614458 +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase lipoic acid synthetase deficiency MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, lactic acidosis, and seizures -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycinemia, lactic acidosis, and seizures MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 -MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:closeMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds6 -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas3 -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency and immune dysregulation, plcg2-associated -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation +MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614468 +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency and immune dysregulation, plcg2-associated MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614470 MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614473 -MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaci2 MONDO:0013769 atrioventricular septal defect 5 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614474 -MONDO:0013769 atrioventricular septal defect 5 skos:closeMatch OMIM:614474 atrioventricular septal defect 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd5 MONDO:0013770 atrial septal defect 9 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614475 -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htgti MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614480 MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertriglyceridemia, transient infantile MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertriglyceridemia, transient infantile +MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, hearing loss, and neurodegeneration MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, hearing loss, and neurodegeneration MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614482 -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, hearing loss, and neurodegeneration -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchlnd -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 +MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigno2 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph12 MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280976 +MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to thrombomodulin defect MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614487 +MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840390 MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840391 -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wipf1 deficiency MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614493 -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym was2 +MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wipf1 deficiency MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614494 -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 +MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension +MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 -MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch OMIM:614497 microphthalmia, isolated, with coloboma 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb7 +MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614497 MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rigidity and multifocal seizure syndrome, lethal neonatal -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rmfsl -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rigidity and multifocal seizure syndrome, lethal neonatal MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614498 +MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rigidity and multifocal seizure syndrome, lethal neonatal MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt34 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 34, with variant lissencephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch NCIT:C153179 Mental Retardation, Autosomal Recessive 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal recessive type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 +MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 +MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614507 MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614508 -MONDO:0013790 mirror movements 2 skos:closeMatch OMIM:614508 mirror movements 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrmv2 -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein s deficiency, autosomal recessive -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph6 MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein s deficiency, autosomal recessive MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 -MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ich -MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stroke, hemorrhagic, susceptibility to +MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein s deficiency, autosomal recessive MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhage, intracerebral, susceptibility to +MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stroke, hemorrhagic, susceptibility to MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhage, intracerebral, susceptibility to +MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ich MONDO:0013794 thrombocythemia 3 skos:closeMatch OMIM:614521 thrombocythemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013794 thrombocythemia 3 skos:closeMatch OMIM:614521 thrombocythemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thcyt3 -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 -MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch OMIM:614524 fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fbcg2 +MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614524 MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614526 MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614527 -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edskscl2 MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614557 MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614558 MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch NCIT:C188139 Developmental and Epileptic Encephalopathy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614559 -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch OMIM:614559 infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icrd MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614561 MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614563 MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch OMIM:614563 intellectual developmental disorder, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous telangiectasia and cancer syndrome, familial -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous telangiectasia and cancer syndrome, familial MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, cutaneous, and cancer syndrome, familial -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fctcs -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614564 -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614565 +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous telangiectasia and cancer syndrome, familial +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous telangiectasia and cancer syndrome, familial +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614565 MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614569 -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch OMIM:614576 congenital disorder of glycosylation, iia iil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iil MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614576 -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch OMIM:614576 congenital disorder of glycosylation, iia iil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iil MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614582 -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brws2 -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614583 MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt21 type MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614588 MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic nonfilarial elephantiasis, susceptibility to -MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonfilarial elephantiasis of lower legs, susceptibility to -MONDO:0013815 FGFR2-related bent bone dysplasia skos:closeMatch OMIM:614592 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbds +MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to MONDO:0013815 FGFR2-related bent bone dysplasia skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 +MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614595 -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pee5 -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614602 MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thes2 MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614602 +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614607 -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch OMIM:614608 coffin-siris syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch OMIM:609963 CHSY3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym css3 -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch OMIM:614609 coffin-siris syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614609 +MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch OMIM:614609 coffin-siris syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 -MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch OMIM:614613 acrodysostosis 2 with or without hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrdys2 MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna4b MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement +MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614614 -MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614615 +MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement +MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614615 MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar6 -MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614616 +MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb86 -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614618 MONDO:0013828 hyperekplexia 2 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614619 -MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614621 -MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch OMIM:614621 uv-sensitive syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvss2 -MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch OMIM:614640 uv-sensitive syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvss3 MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614640 MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614643 -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga7 +MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614640 MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, ispd-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614643 MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614650 -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d6 -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d2 -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614651 +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614652 -MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:closeMatch OMIM:614652 coenzyme Q10 deficiency, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d3 MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614653 MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614654 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d5 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614662 MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614665 MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcnd2 MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614669 +MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:closeMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcm, susceptibility to MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614671 MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614672 -MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch OMIM:614673 microcephaly 8, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph8 MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614673 -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bmfs1 +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614678 -MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch OMIM:614678 pontocerebellar hypoplasia, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1b MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 MONDO:0013857 alar cleft, isolated skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614687 +MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia +MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontine tegmental cap dysplasia MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614688 MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontine tegmental cap dysplasia -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia MONDO:0013859 cataract 38 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614691 MONDO:0013859 cataract 38 skos:closeMatch OMIM:614691 cataract 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous nephropathy, susceptibility to -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614692 MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch NCIT:C128108 Idiopathic Membranous Glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic membranous glomerulopathy -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbnp MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous nephropathy, susceptibility to +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous nephropathy, susceptibility to +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 -MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch OMIM:614699 immunodeficiency, common variable, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid7 -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid8 -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls4 +MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614701 MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614702 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln11 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis type 11 semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bvvls2 MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614714 -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, dha +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, dha -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprtd +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, dha MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, type 2,8-dihydroxyadenine semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch OMIM:614727 congenital disorder of glycosylation, iia iik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iik MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614727 +MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch OMIM:614727 congenital disorder of glycosylation, iia iik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iik MONDO:0013871 Seckel syndrome 6 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614728 MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614731 -MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch OMIM:605367 ELAC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc2 -MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch OMIM:614731 prostate cancer, hereditary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpc2 -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies +MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 +MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614736 -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccd4 -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614739 +MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome -MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:closeMatch OMIM:614740 basal cell carcinoma, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcc7 -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch OMIM:614741 mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpycd +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614739 MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614741 -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfbmft1 MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfbmft2 MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614744 -MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch OMIM:614744 facial paresis, hereditary congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcfp3 -MONDO:0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome skos:closeMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nephrotic syndrome, and epidermolysis bullosa, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nephrotic syndrome, and epidermolysis bullosa, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn5b +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614751 -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malan syndrome MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malan syndrome -MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 -MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability +MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malan syndrome +MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, nonprogressive, with mental retardation +MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability +MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614779 -MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch OMIM:614779 heterotaxy, visceral, 6, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx6 -MONDO:0013888 tremor, hereditary essential, 4 skos:closeMatch OMIM:614782 tremor, hereditary essential, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym etm4 -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soph MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, optic nerve atrophy, and pelger-huet anomaly MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, optic nerve atrophy, and pelger-huet anomaly -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614800 +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soph MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature-optic atrophy-pelger-huët anomaly syndrome -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614800 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614808 +MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 -MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:closeMatch OMIM:614810 multiple sclerosis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ms5 -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, onychodysplasia, facial dysmorphism, and hypotrichosis -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, onychodysplasia, facial dysmorphism, and hypotrichosis MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch NCIT:C25255 Soft semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, onychodysplasia, facial dysmorphism, and hypotrichosis +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, onychodysplasia, facial dysmorphism, and hypotrichosis +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614814 -MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch OMIM:614814 adams-oliver syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos3 MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 -MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614816 MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch OMIM:614816 loeys-dietz syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations -MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch OMIM:614816 loeys-dietz syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lds4 +MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614816 MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial nephritis, karyomegalic +MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kin MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial nephritis, karyomegalic -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyomegalic interstitial nephritis -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kin -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kin +MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614817 +MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kin MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614819 -MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch OMIM:614819 weill-marchesani syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wms3 -MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch OMIM:614820 alternating hemiplegia of childhood 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc2 MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614820 MONDO:0013901 spermatogenic failure 10 skos:closeMatch OMIM:614822 spermatogenic failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure with defective sperm annulus -MONDO:0013901 spermatogenic failure 10 skos:closeMatch OMIM:614822 spermatogenic failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf10 MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614822 +MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614823 -MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aovd2 +MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614823 +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga8 -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gtdc2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614830 +MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gtdc2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia4 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia4 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with seizures -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and polymicrogyria with or without seizures -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mssp MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, short stature, and polymicrogyria with or without seizures +MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and polymicrogyria with or without seizures MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614834 +MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhv-8, susceptibility to -MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh8 MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh9 -MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh10 MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614839 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch OMIM:614840 hypogonadotropic hypogonadism 11 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh11 MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614841 -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh12 MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadotropin deficiency, familial idiopathic MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614842 -MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch OMIM:614842 hypogonadotropic hypogonadism 13 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh13 -MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch OMIM:601584 PTP4A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh13 -MONDO:0013916 nephronophthisis 14 skos:closeMatch OMIM:614844 nephronophthisis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 +MONDO:0013916 nephronophthisis 14 skos:closeMatch OMIM:614844 nephronophthisis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614845 MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal tetrasomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 MONDO:0013918 distal tetrasomy 15q skos:closeMatch OMIM:614846 tetrasomy 15q26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levy-shanske syndrome MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae5 MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae6 -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614850 MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 -MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch OMIM:614852 microcephaly 9, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph9 MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614852 -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 +MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch NCIT:C183526 Methylmalonic Aciduria and Homocystinuria, cblJ Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblj type -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch OMIM:614857 methylmalonic aciduria and homocystinuria, cblj iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mahcj MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh14 -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd3a -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614860 +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset cervical dystonia, dyt23 type -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb98 -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement +MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614860 MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement +MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614861 +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group c -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd4a -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch OMIM:614863 peroxisome biogenesis disorder 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd4b +MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group f MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group f -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd5a MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch OMIM:614867 peroxisome biogenesis disorder 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd5b MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tiiac -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst1 deficiency MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stk4 deficiency MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614868 -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd6a +MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group b -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch OMIM:614871 peroxisome biogenesis disorder 6b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd6b -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd7a -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a +MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch OMIM:614873 peroxisome biogenesis disorder 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd7b -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement +MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614874 -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondrodysplasia with type 2-hydroxyglutaric aciduria semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloenchondromatosis with d-2-hydroxyglutaric aciduria +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondrodysplasia with type 2-hydroxyglutaric aciduria semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group d MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group d -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd8a +MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement +MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch OMIM:614877 peroxisome biogenesis disorder 8b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd8b -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group r MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd9b MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, pex7-related, atypical MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, adult, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group r MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch OMIM:614880 hypogonadotropic hypogonadism 15 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh15 MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsma5 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsma5 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd10a -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group g +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group g +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group h +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd11a -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch OMIM:614885 peroxisome biogenesis disorder 11b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd11b +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd12a -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group j +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cg14 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgj -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group j MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cg14 -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group k -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd13a +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 +MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 -MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd28 -MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd29 +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd30 -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal dominant MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31a +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal dominant MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irf8 deficiency, autosomal dominant -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd32a -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614895 MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614896 -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch OMIM:614896 sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandd MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614897 -MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh16 -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614898 MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614898 +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb93 MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch OMIM:614900 diamond-blackfan anemia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba11 MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614915 -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch OMIM:614915 lethal congenital contracture syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs4 -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpvt4 MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614916 -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch OMIM:614920 peroxisome biogenesis disorder 14b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pex14b +MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 +MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm1 deficiency MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg it MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm1 deficiency -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglucomutase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephaloneuromyopathy, infantile, due to mitochondrial translation defect -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branched-chain keto acid dehydrogenase kinase deficiency -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain keto acid dehydrogenase kinase deficiency +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bckdk deficiency +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain keto acid dehydrogenase kinase deficiency +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614923 MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with thalamus and brainstem involvement and high lactate -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614926 -MONDO:0013972 Perrault syndrome 2 skos:closeMatch OMIM:614926 perrault syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts2 MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614927 MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614928 -MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch OMIM:614929 ectodermal dysplasia 7, hair/nail iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd7 MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614929 MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614931 -MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch OMIM:614931 ectodermal dysplasia 9, hair/nail iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd9 -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 -MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb70 +MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614934 MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614935 MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614935 MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614936 MONDO:0013981 myoclonus, familial skos:exactMatch OMIM:614937 myoclonus, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus, familial cortical -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd11a -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd11b -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb84b +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614944 -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614945 +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb18b +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614946 MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614947 +MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013988 congenital heart defects, multiple types, 3 skos:closeMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614959 MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch NCIT:C188141 Developmental and Epileptic Encephalopathy 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614961 MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614962 -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lepd -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin deficiency or dysfunction MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin deficiency or dysfunction +MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin deficiency or dysfunction +MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin receptor deficiency MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614963 MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch NCIT:C120386 Leptin Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin receptor deficiency +MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614963 MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614969 -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 -MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icp3 +MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614972 -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brauer-setleis syndrome MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 +MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crpt2 MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614976 MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenomegaly, cytopenia, and vision loss MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614979 -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch OMIM:614980 congenital heart defects, multiple types, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chtd2 -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 +MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615006 MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615007 -MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch OMIM:615007 basal ganglia calcification, idiopathic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc4 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs7 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pacs1-related syndrome +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615009 +MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pacs1-related syndrome MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615010 -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch OMIM:615010 aicardi-goutieres syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags6 -MONDO:0014008 phosphohydroxylysinuria skos:closeMatch OMIM:615011 phosphohydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphohydroxylysinuria -MONDO:0014008 phosphohydroxylysinuria skos:closeMatch OMIM:615011 phosphohydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphohydroxylysinuria -MONDO:0014008 phosphohydroxylysinuria skos:closeMatch OMIM:615011 phosphohydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phlu -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615022 -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615023 -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615024 +MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615025 MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615028 MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615030 MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615031 -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615033 -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement +MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615034 -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615035 +MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615035 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feps1 -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615041 +MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, tmem5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga10 -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch OMIM:615042 congenital disorder of glycosylation, iia iu semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iu +MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615041 MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615042 -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch OMIM:615042 congenital disorder of glycosylation, iia iu semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iu MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615043 -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch OMIM:615048 spinal muscular atrophy, jokela iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smaj -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, jokela type -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smaj MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615048 +MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, jokela type MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615058 MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615059 -MONDO:0014027 hypotrichosis 11 skos:closeMatch OMIM:615059 hypotrichosis 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt11 MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615067 MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch OMIM:615071 alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alazs +MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615067 MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch OMIM:615071 alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, intellectual disability, and primordial dwarfism MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615071 MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615072 -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt25 MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615073 MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant focal dystonia, dyt25 type -MONDO:0014033 dystonia 25 skos:closeMatch OMIM:615073 dystonia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt25 -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch OMIM:615074 gand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615074 +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch OMIM:615074 gand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615075 MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with spastic diplegia and visual defects -MONDO:0014036 Alzheimer disease 17 skos:closeMatch OMIM:615080 alzheimer disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 17, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014036 Alzheimer disease 17 skos:closeMatch OMIM:615080 alzheimer disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 17, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014037 spermatogenic failure 11 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615081 -MONDO:0014037 spermatogenic failure 11 skos:closeMatch OMIM:615081 spermatogenic failure 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf11 -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 12q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crcs12 MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 +MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 12q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia-myopathy-emaciation syndrome MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615084 -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch OMIM:615084 mitochondrial DNA depletion syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps11 MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615085 -MONDO:0014041 autism, susceptibility to, 19 skos:closeMatch OMIM:615091 autism, susceptibility to, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts19 -MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615092 -MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch OMIM:615092 left ventricular noncompaction 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvnc7 +MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 +MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615092 MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph10 -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyshchenko syndrome +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyshchenko syndrome +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyshchenko syndrome MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615102 MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 -MONDO:0014046 Cowden syndrome 4 skos:closeMatch OMIM:615107 cowden syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cws4 MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 -MONDO:0014047 Cowden syndrome 5 skos:closeMatch OMIM:615108 cowden syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cws5 MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 -MONDO:0014048 Cowden syndrome 6 skos:closeMatch OMIM:615109 cowden syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cws6 MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615112 -MONDO:0014049 urofacial syndrome 2 skos:closeMatch OMIM:615112 urofacial syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ufs2 MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615113 -MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615119 -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, due to agrin deficiency MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with pre- and postsynaptic defects -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014054 lymphoproliferative syndrome 2 skos:closeMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615122 -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615134 -MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm9 -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch OMIM:615135 maple syrup urine disease, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msudmv -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, immunodeficiency, livedo, and short stature +MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fils +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615139 -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615145 -MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch OMIM:615145 microphthalmia, isolated, with coloboma 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb9 -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdccas -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615147 -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, iris coloboma, and comedogenic acne syndrome MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, iris coloboma, and comedogenic acne syndrome +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, iris coloboma, and comedogenic acne syndrome +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615147 MONDO:0014061 Steel syndrome skos:closeMatch OMIM:615155 steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocated hips and radial heads, carpal coalition, scoliosis, and short stature MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615155 -MONDO:0014061 Steel syndrome skos:closeMatch OMIM:615155 steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stls MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615156 -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peoa6 -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615157 MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615158 -MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch OMIM:615158 mitochondrial complex 3 deficiency, nuclear iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn3 MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615159 -MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch OMIM:615159 mitochondrial complex 3 deficiency, nuclear iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn4 -MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn5 MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615160 -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt35 MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt35 +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615163 -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615170 +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615179 -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga11 MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3galnt2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 +MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615182 -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d2l2ad -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined d-2- and l-2-hydroxyglutaric aciduria MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined d-2- and l-2-hydroxyglutaric aciduria -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 +MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined d-2- and l-2-hydroxyglutaric aciduria MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615188 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis5 MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, autosomal dominant, actn1-related MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615193 MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card11 immunodeficiency -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd11a MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd56 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agm7 -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to pik3r1 defect MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 +MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to pik3r1 defect MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615217 MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 semapv:RegularExpressionReplacement -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch OMIM:615217 ataxia-oculomotor apraxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoa3 MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615219 -MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyc2 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smc2 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615224 -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615225 MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch OMIM:615225 palmoplantar carcinoma, multiple self-healing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615225 MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615226 -MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch OMIM:615226 polydactyly, postaxial, iia a6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa6 MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 -MONDO:0014092 schizophrenia 18 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014092 schizophrenia 18 skos:closeMatch OMIM:615232 schizophrenia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 18 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014092 schizophrenia 18 skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder +MONDO:0014092 schizophrenia 18 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615233 -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmio2 +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615234 -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615235 -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615235 MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woods syndrome MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woods syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital short bowel syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital short bowel syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym csbs MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital short bowel syndrome +MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch OMIM:615238 lipodystrophy, familial partial, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with cidec mutations MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615238 -MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch OMIM:615244 nephrotic syndrome, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs8 MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615244 -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomk-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga12 MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615249 -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch OMIM:615266 hypogonadotropic hypogonadism 17 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh17 -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 -MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch OMIM:615267 hypogonadotropic hypogonadism 18 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh18 +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615267 +MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq4 -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch OMIM:615269 hypogonadotropic hypogonadism 19 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh19 MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch OMIM:615270 hypogonadotropic hypogonadism 20 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh20 MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 -MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch OMIM:615271 hypogonadotropic hypogonadism 21 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh21 +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615271 -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group q -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group q MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 +MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group q +MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group q +MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615274 -MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615277 -MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615278 -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch OMIM:615278 cardiofaciocutaneous syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc2 -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch OMIM:615279 cardiofaciocutaneous syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc3 MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615279 MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615280 -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch OMIM:615280 cardiofaciocutaneous syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc4 -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartyl-trna synthetase deficiency -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination with brainstem and spinal cord involvement and leg spasticity MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with brainstem and spinal cord involvement and leg spasticity +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination with brainstem and spinal cord involvement and leg spasticity +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615284 MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn5 MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3gnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga13 MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615287 +MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3gnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 -MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch OMIM:615293 myofibromatosis, infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imf2 MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615293 -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615294 +MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch OMIM:615297 adams-oliver syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos4 +MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615294 MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615297 -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch OMIM:615298 symphalangism, proximal, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym1b MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615300 -MONDO:0014126 Perrault syndrome 4 skos:closeMatch OMIM:615300 perrault syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts4 MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615312 -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch OMIM:615314 craniosynostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs3 MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 -MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch OMIM:615327 dowling-degos disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddd2 MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615327 MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shaheen syndrome MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shns -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds3 -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds3 +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615330 -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 +MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch OMIM:615342 pulmonary hypertension, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph2 MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615343 -MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch OMIM:615343 pulmonary hypertension, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph3 -MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch OMIM:615344 pulmonary hypertension, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph4 MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615344 -MONDO:0014137 precocious puberty, central, 2 skos:closeMatch OMIM:615346 precocious puberty, central, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cppb2 MONDO:0014137 precocious puberty, central, 2 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615348 -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615349 MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga14 -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gmppb-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615349 MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615350 -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 +MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gmppb-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, gmppb-related -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615352 +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2t +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615352 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related -MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615355 MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615355 +MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2s MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615360 -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln13 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln13 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label estrogen resistance MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen insensitivity -MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrr MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen resistance MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615363 -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs5 -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, lethal, autosomal recessive MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs5 MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615368 +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, lethal, autosomal recessive MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, childhood-onset +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615368 MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch NCIT:C172100 Childhood-Onset Epileptic Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset epileptic encephalopathy +MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, childhood-onset +MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 -MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:closeMatch OMIM:615371 pulmonary hypertension, neonatal, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phn -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch OMIM:615373 left ventricular noncompaction 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ll semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch OMIM:615373 left ventricular noncompaction 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvnc8 -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 +MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 +MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch OMIM:615373 left ventricular noncompaction 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ll semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615374 +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate c MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate c MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615376 -MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch OMIM:615377 atrial fibrillation, familial, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb13 MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615377 MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615378 -MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch OMIM:615378 atrial fibrillation, familial, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb14 MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdpl MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615381 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal recessive, spectrin-associated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcr-alpha/beta deficiency -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615387 -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell receptor-alpha/beta deficiency MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615387 MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell receptor-alpha/beta deficiency MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615390 MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615395 +MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch OMIM:615396 left ventricular noncompaction 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1mm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch OMIM:615396 left ventricular noncompaction 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvnc10 -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615397 -MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch OMIM:615397 meckel syndrome, iia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks11 -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcahs3 -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615398 -MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnh2 +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615399 -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fame5 -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615400 +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615401 -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch OMIM:615401 immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch OMIM:615401 immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd8 -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch OMIM:615401 immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615402 -MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duh3 MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:closeMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:closeMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014172 spermatogenic failure 12 skos:closeMatch OMIM:615413 spermatogenic failure 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf12 MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 -MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:closeMatch OMIM:615414 microcephaly 11, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph11 MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615415 -MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd2 -MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch NCIT:C129977 Mitochondrial DNA Depletion Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 12 semapv:RegularExpressionReplacement MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615418 -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ihprf -MONDO:0014177 myopia 22, autosomal dominant skos:closeMatch OMIM:615420 myopia 22, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp22 +MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch NCIT:C129977 Mitochondrial DNA Depletion Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 12 semapv:RegularExpressionReplacement MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibmpfd2 MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615422 -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615424 MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibmpfd3 +MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615424 MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615425 MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615426 MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb88 -MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch OMIM:615431 myopia 23, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp23 +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615431 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615434 MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615436 -MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch OMIM:615436 aortic aneurysm, familial thoracic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat8 -MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 -MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615441 -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 +MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615453 -MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch OMIM:615453 mitochondrial complex 3 deficiency, nuclear iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn6 -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615458 -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmcat MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, myopic chorioretinal atrophy, and telecanthus +MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus +MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615458 +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845146 -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrtfds +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845146 MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd12 -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps13 -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial dna depletion syndrome type 13 semapv:RegularExpressionReplacement +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615471 MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial dna depletion syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch OMIM:615474 primary aldosteronism, seizures, and neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pasna -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615474 +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615476 -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615481 +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615482 -MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch OMIM:615483 basal ganglia calcification, idiopathic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc5 MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615483 -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bainbridge-ropers syndrome +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brps -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illd -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615486 -MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of +MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615490 MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with optic atrophy, childhood-onset -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt37 MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt37 +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615500 +MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group c MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group c +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group c +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615502 MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615503 -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615505 -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch OMIM:615506 telangiectasia, hereditary hemorrhagic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hht5 +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615505 MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615506 -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe dermatitis, multiple allergies, and metabolic wasting syndrome -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epkhe -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe dermatitis, multiple allergies, and metabolic wasting syndrome +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine monophosphate deaminase-1 deficiency, myopathy due to MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency, myopathy due to -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ampd1 deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amp deaminase deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy due to myoadenylate deaminase deficiency MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy due to myoadenylate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmdd -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch OMIM:615512 triosephosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpid +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ampd1 deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine monophosphate deaminase-1 deficiency, myopathy due to +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency, myopathy due to MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860808 MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615512 -MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome +MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 +MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label activated pi3k-delta syndrome -MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome -MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615515 +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt38 -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615517 MONDO:0014225 hemochromatosis type 5 skos:closeMatch OMIM:615517 hemochromatosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron overload, autosomal dominant -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd13 +MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic cd4 lymphopenia MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coled -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615522 -MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch OMIM:615523 corneal dystrophy, fuchs endothelial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fecd8 +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615523 MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch OMIM:615524 microphthalmia, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch OMIM:615524 microphthalmia, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops12 MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 +MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615527 MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf8 -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park19a MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park19, formerly -MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch OMIM:615529 craniosynostosis 5, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs5 +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615529 -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park20 MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615530 -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615537 -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rak +MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropigmentatio reticularis MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kitamura reticulate acropigmentation MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulate pigmentation of kitamura -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropigmentatio reticularis -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:606573 FRK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rak -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rak -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615537 MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc2 +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb76 +MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615540 +MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt39 -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 -MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tachd MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615542 -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvnh6 MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 +MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615545 -MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all3 +MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmlds2 MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chitayat-hall syndrome -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chitayat-hall syndrome +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615548 +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch NCIT:C125388 Neuropathy, Hereditary Sensory and Autonomic, Type VII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type vii -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch OMIM:615550 diamond-blackfan anemia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba12 MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 -MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch OMIM:615551 episodic pain syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feps2 MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615551 +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feps3 -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch NCIT:C125390 Episodic Pain Syndrome, Familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, mental retardation, and seizures MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amrs -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 -MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple fibroadenomas of the breast -MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfab MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple fibroadenomas of the breast +MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple fibroadenomas of the breast MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia -MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprl MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615555 MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615557 MONDO:0014251 melioidosis, susceptibility to skos:closeMatch OMIM:615557 melioidosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melioidosis, resistance to -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, normotriglyceridemic +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, normotriglyceridemic -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otfcs2 -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc2 +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615560 -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch OMIM:602966 orofacial cleft 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc2 -MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfbd MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor b deficiency MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor b deficiency MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615565 MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615573 -MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch OMIM:615573 nephrotic syndrome, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs9 -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch OMIM:615574 asparagine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asns deficiency -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch OMIM:615574 asparagine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asnsd -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch NCIT:C168586 Asparagine Synthetase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label asparagine synthetase deficiency +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch OMIM:615574 asparagine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asns deficiency MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615575 MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn2d MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal dominant, calf-predominant -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, with central adrenal insufficiency -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid10 +MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd18 -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615578 -MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014262 Rienhoff syndrome skos:closeMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 -MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lds5 -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch OMIM:615583 verheij syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vrjs -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch OMIM:615583 verheij syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 +MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 +MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch OMIM:615583 verheij syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014265 Alzheimer disease 18 skos:closeMatch OMIM:615590 alzheimer disease 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 18, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd16 MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 -MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch OMIM:615595 combined oxidative phosphorylation deficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd19 MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615595 MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615596 +MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ix MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615597 MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931007 -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ix -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch OMIM:615598 palmoplantar keratoderma, nagashima iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkn MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014274 L-ferritin deficiency skos:closeMatch OMIM:615604 l-ferritin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lftd MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615604 -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch OMIM:615605 fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts3 MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615615 -MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 -MONDO:0014280 immunodeficiency 19 skos:exactMatch OMIM:186790 CD3D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cd3d -MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive -MONDO:0014280 immunodeficiency 19 skos:exactMatch OMIM:186790 CD3D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3d -MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd19 MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency -MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615619 +MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive +MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chlc, susceptibility to -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615619 MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615625 -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna56 MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615629 +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch OMIM:615631 anemia, congenital dyserythropoietic, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdan1b -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 +MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch OMIM:615632 neuropathy, hereditary sensory, iia 1f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt41 MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt41 MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coasy protein-associated neurodegeneration MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615643 -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna54 MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with ataxia -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia +MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615651 MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch NCIT:C171603 Leukoencephalopathy with Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lkpat -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna58 +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with ataxia +MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615656 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3180937 -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615658 MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 57, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 57, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615663 +MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615658 MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615663 MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pde4d haploinsufficiency syndrome MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615668 +MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pde4d haploinsufficiency syndrome +MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym swnts2 -MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615673 -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with extrapyramidal signs -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpxps MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with extrapyramidal signs -MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with extrapyramidal signs MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615674 +MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615681 MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615683 +MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 63 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615686 -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 63 +MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pan MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NCIT:C126347 Adenosine Deaminase 2 Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615696 -MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch OMIM:615696 dowling-degos disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddd4 +MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mospgf -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615703 MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morbid obesity and spermatogenic failure MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morbid obesity and spermatogenic failure +MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615703 MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615704 -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poiktmp +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615705 +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcnd3 MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615706 +MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd20 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sava +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis with vertebral anomalies MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis with vertebral anomalies MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615709 MONDO:0014316 Alzheimer disease 19 skos:closeMatch OMIM:615711 alzheimer disease 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 19, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bmfs2 -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615715 -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch OMIM:615721 renal hypodysplasia/aplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhda2 +MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 -MONDO:0014321 premature ovarian failure 8 skos:closeMatch OMIM:615723 premature ovarian failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof8 MONDO:0014322 premature ovarian failure 9 skos:closeMatch OMIM:615724 premature ovarian failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof9 MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615725 -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch OMIM:615726 pachyonychia congenita 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc3 MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615726 -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch OMIM:615728 pachyonychia congenita 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc4 -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch OMIM:603502 IFRD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc4 MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615728 +MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch OMIM:615735 palmoplantar keratoderma, nonepidermolytic, focal or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppknefd MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615744 MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 -MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrst2 MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial dilation and standstill MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, atrial dilated, with atrial standstill -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch OMIM:615750 moyamoya disease 6 with or without achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mymy6 MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615750 -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ca5ad MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615751 MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615751 +MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgr MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bppr -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgr -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd22 +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, progressive, with seizures and cerebral and cerebellar atrophy -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mscca MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, progressive, with seizures and cerebral and cerebellar atrophy MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615760 +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, progressive, with seizures and cerebral and cerebellar atrophy MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615761 MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid11 +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21 deficiency MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615768 MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to stub1 deficiency +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615768 MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615770 -MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch OMIM:615770 atrial fibrillation, familial, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atfb15 -MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdcbm6 -MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615774 -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd1 -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch OMIM:615777 desbuquois dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbqd2 +MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615777 -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 +MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chtd4 MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615780 -MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn2 +MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615802 MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615803 MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615807 MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615809 -MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:closeMatch OMIM:615812 abdominal obesity-metabolic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms3 MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 -MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt43 +MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615821 -MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:closeMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dcwhkta -MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn7 MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615824 MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615828 MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615829 -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppnad4 MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad4 MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent adrenal cushing syndrome, somatic MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615833 MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615834 -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615837 -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb101 +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615838 -MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch OMIM:615838 mitochondrial complex 3 deficiency, nuclear iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn8 MONDO:0014365 spermatogenic failure 13 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615841 -MONDO:0014365 spermatogenic failure 13 skos:closeMatch OMIM:615841 spermatogenic failure 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf13 MONDO:0014366 spermatogenic failure 14 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615842 -MONDO:0014366 spermatogenic failure 14 skos:closeMatch OMIM:615842 spermatogenic failure 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf14 +MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615846 MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615846 -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch OMIM:615846 aicardi-goutieres syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags7 MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615848 -MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch OMIM:615848 melanoma, cutaneous malignant, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmm10 -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cjs -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister-hall syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label culler-jones syndrome -MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch OMIM:615851 pontocerebellar hypoplasia, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2e +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister-hall syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615851 MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615859 MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615860 MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch OMIM:615861 nephrotic syndrome, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs10 MONDO:0014374 nephronophthisis 18 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615862 -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch OMIM:615863 diarrhea 7, protein-losing enteropathy iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar7 MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615863 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615866 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615871 MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement +MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615872 -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome +MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement +MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adnp syndrome -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helsmoortel-van der aa syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcsks -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia/coloboma and skeletal dysplasia syndrome +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia/coloboma and skeletal dysplasia syndrome +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis type 4 semapv:RegularExpressionReplacement -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatton-brown-rahman syndrome +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbrs MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatton-brown-rahman syndrome MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 -MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch OMIM:615883 myopathy, tubular aggregate, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tam2 -MONDO:0014384 hypotrichosis 12 skos:closeMatch OMIM:615885 hypotrichosis 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt12 MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615885 -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia5 -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia5 -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615888 +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia5 +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 +MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615888 MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch OMIM:615889 leukoencephalopathy, progressive, with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lkenp -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc14 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 +MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 -MONDO:0014390 hypotrichosis 13 skos:closeMatch OMIM:615896 hypotrichosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt13 MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615896 -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd24 MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615905 MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615907 -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch OMIM:615909 diamond-blackfan anemia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba13 MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615911 -MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615916 MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1nn semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1nn semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615916 MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615917 -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615918 -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615918 MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pcna-related progressive neurodegenerative photosensitivity syndrome -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch OMIM:615919 ataxia-telangiectasia-like disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld2 MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615922 MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615923 -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch OMIM:615923 epiphyseal chondrodysplasia, miura iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecdm -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, with or without lipodystrophy MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, with or without lipodystrophy +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, with or without lipodystrophy MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615924 -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peld -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615925 MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated partial MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone deficiency, isolated partial -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghdp -MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedas +MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615925 +MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label webb-dattani syndrome MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym webb-dattani syndrome -MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch NCIT:C177547 STING-Associated Vasculopathy, Infantile-Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sting-associated vasculopathy, infantile-onset -MONDO:0014406 pancreatic agenesis 2 skos:closeMatch OMIM:615935 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014406 pancreatic agenesis 2 skos:closeMatch OMIM:615935 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen2 +MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset +MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch NCIT:C177547 STING-Associated Vasculopathy, Infantile-Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpph2 +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch OMIM:615935 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615937 -MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpph3 MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615938 MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 -MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt44 MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt44 MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615945 -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement -MONDO:0014411 myopia 24, autosomal dominant skos:closeMatch OMIM:615946 myopia 24, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp24 MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615948 -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym admio1 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615952 -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615954 -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aimah2 +MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 -MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch OMIM:615959 myopathy, centronuclear, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnm5 MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615959 MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptbhs -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poretti-boltshauser syndrome -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acid-labile subunit deficiency -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aclsd +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch NCIT:C120114 Acid-Labile Subunit Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acid-labile subunit deficiency MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615961 -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch NCIT:C120114 Acid-Labile Subunit Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr deficiency -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid resistance, generalized -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcr deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid receptor deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid resistance, generalized +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcr deficiency MONDO:0014421 glucocorticoid resistance skos:exactMatch NCIT:C126809 Glucocorticoid Resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucocorticoid resistance +MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615962 -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid receptor deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol resistance from glucocorticoid receptor defect -MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch OMIM:615963 vesicoureteral reflux 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vur8 MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615963 -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd26 +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 -MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 -MONDO:0014426 nanophthalmos 4 skos:closeMatch OMIM:615972 nanophthalmos 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nno4 MONDO:0014426 nanophthalmos 4 skos:closeMatch OMIM:615972 nanophthalmos 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615973 -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615974 -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb102 MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 -MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt45 -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615980 +MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch OMIM:615980 lipodystrophy, familial partial, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with lipe mutations -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 +MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615980 MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch NCIT:C118632 Bardet-Biedl Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome -MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch OMIM:606151 BBS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs2 -MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch OMIM:606151 BBS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs2 -MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 -MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch OMIM:600374 BBS4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs4 MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615982 -MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch OMIM:600374 BBS4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs4 -MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 -MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch OMIM:603650 BBS5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs5 -MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch OMIM:603650 BBS5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs5 MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615983 -MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615984 -MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch OMIM:607590 BBS7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs7 -MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch OMIM:607590 BBS7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs7 -MONDO:0014436 Bardet-Biedl syndrome 8 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 MONDO:0014436 Bardet-Biedl syndrome 8 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615985 MONDO:0014437 Bardet-Biedl syndrome 9 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615986 -MONDO:0014437 Bardet-Biedl syndrome 9 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 MONDO:0014438 Bardet-Biedl syndrome 10 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615987 -MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch OMIM:610148 BBS10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs10 -MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch OMIM:610148 BBS10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs10 MONDO:0014439 Bardet-Biedl syndrome 11 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615988 -MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch OMIM:610683 BBS12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bbs12 -MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch OMIM:610683 BBS12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bbs12 MONDO:0014440 Bardet-Biedl syndrome 12 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615989 MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615990 MONDO:0014442 Bardet-Biedl syndrome 14 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615991 @@ -29431,610 +26196,504 @@ MONDO:0014444 Bardet-Biedl syndrome 16 skos:closeMatch Orphanet:110 Bardet-Biedl MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615994 MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615995 MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615996 -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdh -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdah MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthyroid hyperthyroxinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fdh -MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analba -MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia -MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analbuminemia MONDO:0014449 congenital analbuminemia skos:closeMatch NCIT:C124851 Analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 +MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analbuminemia +MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616001 -MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bnah2 -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysfibrinogenemia, congenital MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodysfibrinogenemia, congenital +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysfibrinogenemia, congenital -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysfibrinogenemia, congenital MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014453 immunodeficiency 36 skos:closeMatch OMIM:616005 immunodeficiency 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd36 +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysfibrinogenemia, congenital MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616006 -MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hklls2 -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616007 -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn6 -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpibd11 +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 -MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts4 +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts4 with mody MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616028 -MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch OMIM:616028 adams-oliver syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos5 -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectds -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/short stature syndrome MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/short stature syndrome +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/short stature syndrome MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616030 -MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch OMIM:616030 hypogonadotropic hypogonadism 22 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hh22 MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616034 MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857252 -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch OMIM:616034 2,4-dienoyl-coa reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym decrd -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616037 -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 +MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616037 MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nls2 -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 +MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616039 +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb103 -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616042 MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616042 MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna65 +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616044 -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label isolated atp synthase deficiency -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616050 -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aifec +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with infantile enterocolitis MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with infantile enterocolitis -MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch OMIM:616051 microcephaly 13, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph13 +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616050 MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616051 MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616052 -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616053 -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 +MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic ataxia with slurred speech -MONDO:0014476 episodic ataxia type 8 skos:closeMatch OMIM:616055 episodic ataxia, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ea8 +MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch NCIT:C175047 Developmental and Epileptic Encephalopathy 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616056 -MONDO:0014478 mirror movements 3 skos:closeMatch OMIM:616059 mirror movements 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrmv3 MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616059 MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616063 -MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porok8 -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, zfpm2-related +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy9 -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616069 -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisbd2 MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616078 MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdgca -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616079 MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch NCIT:C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities -MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph12 +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616080 -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1c MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with spinal muscular atrophy and cerebellar hypoplasia MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 +MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgc12 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mct1d +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616095 -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014491 immunodeficiency 37 skos:closeMatch OMIM:616098 immunodeficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd37 MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair -MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkwh MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616100 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctla4 haploinsufficiency with autoimmune infiltration -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch OMIM:616106 psoriasis 15, pustular, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psors15 MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, juvenile cataracts, and short stature syndrome -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdjcss +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616108 -MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch OMIM:616111 mitochondrial complex 3 deficiency, nuclear iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn9 MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616111 -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch OMIM:616113 polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepns MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616113 -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch OMIM:616115 familial cold autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas4 MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616115 -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas4 -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt46 -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccdd -MONDO:0014501 macular degeneration, early-onset skos:closeMatch OMIM:616118 macular degeneration, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eomd -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd38 +MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isg15 deficiency, autosomal recessive MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isg15 deficiency, autosomal recessive -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency -MONDO:0014504 Perrault syndrome 5 skos:closeMatch OMIM:616138 perrault syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts5 +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616138 MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616139 -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616140 -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catmans -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger anomaly with pierre robin syndrome -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with hyperphalangy and clinodactyly +MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616140 +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger anomaly with pierre robin syndrome +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with hyperphalangy and clinodactyly MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616151 -MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch OMIM:616151 macular dystrophy, vitelliform, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmd4 -MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch OMIM:616152 macular dystrophy, vitelliform, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmd5 MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616152 -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfcrd -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfcrd MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616155 -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat9 MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection -MONDO:0014515 macular dystrophy with central cone involvement skos:closeMatch OMIM:616170 macular dystrophy with central cone involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccmd -MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccrp2 -MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch OMIM:616172 generalized epilepsy with febrile seizures plus, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp9 +MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616172 -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 MONDO:0014519 chronic mountain sickness, susceptibility to skos:closeMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monge disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg4 MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 MONDO:0014522 retinal dystrophy and obesity skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616188 -MONDO:0014522 retinal dystrophy and obesity skos:closeMatch OMIM:616188 retinal dystrophy and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdob MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616192 -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acphd -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt47 MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt47 MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616199 -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgbm2 MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruijs-aalfs syndrome +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616199 MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rjals MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruijs-aalfs syndrome MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome +MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caid MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic atrial and intestinal dysrhythmia syndrome MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616201 -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caid -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfds MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 +MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome +MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to grid2 deficiency MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 -MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch OMIM:616208 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als22 +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616208 MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, isolated mitochondrial, autosomal dominant MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, isolated mitochondrial, autosomal dominant MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616209 -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immd MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616211 -MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch OMIM:616212 lissencephaly 6 with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis6 MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc5 MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia type 5 with increased susceptibility to malignancy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014536 thrombocytopenia 5 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616216 MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616217 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch OMIM:616219 fibrosis of extraocular muscles, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom5 MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome +MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temple syndrome -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, without tubular aggregates -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, without tubular aggregates MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 +MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616230 -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcqa +MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, vacuolar, with casq1 aggregates MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, vacuolar, with casq1 aggregates MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616231 MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616239 -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0014549 lethal congenital contracture syndrome 6 skos:closeMatch OMIM:616248 lethal congenital contracture syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs6 -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 +MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 -MONDO:0014551 short stature with nonspecific skeletal abnormalities skos:closeMatch OMIM:616255 short stature with nonspecific skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snsk -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks12 -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tenorio syndrome MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenorio syndrome MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overgrowth, macrocephaly, and intellectual disability syndrome -MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnors MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss3 -MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 +MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clifahdd MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616268 -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt48 -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 +MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10d7 +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616276 -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echs1d -MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014565 cataract 43 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616279 MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616280 MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616281 -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616282 -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616282 MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616286 -MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch OMIM:616286 lethal congenital contracture syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs7 MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616287 -MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch OMIM:616287 lethal congenital contracture syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs8 MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616289 -MONDO:0014571 optic atrophy 9 skos:closeMatch OMIM:616289 optic atrophy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa9 -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch OMIM:616291 lichtenstein-knorr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym likns -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch OMIM:616291 lichtenstein-knorr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616291 -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clcrp2 -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome +MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch OMIM:616291 lichtenstein-knorr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616294 +MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plack MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch OMIM:616298 singleton-merten syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgmrt2 +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616298 -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipt1d -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616299 +MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616300 -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsn8 -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616307 +MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 +MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 +MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 +MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms3c +MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 +MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 +MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 +MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ie, formerly -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, ie, formerly MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch NCIT:C177546 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616329 -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18, with intellectual disability and ataxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18, with intellectual disability and ataxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 +MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccrp3 -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616335 +MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616339 -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna67 +MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement +MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616340 MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616340 -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 -MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:closeMatch OMIM:616342 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis7 -MONDO:0014597 immunodeficiency 39 skos:closeMatch OMIM:616345 immunodeficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd39 +MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:exactMatch NCIT:C185237 Developmental and Epileptic Encephalopathy 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 MONDO:0014599 intellectual disability, autosomal dominant 34 skos:closeMatch OMIM:616351 intellectual developmental disorder, autosomal dominant 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616354 +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616355 MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch OMIM:616355 intellectual developmental disorder, autosomal dominant 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna40 -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616361 -MONDO:0014604 Parkinson disease 21 skos:closeMatch OMIM:616361 parkinson disease 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park21 MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:616362 intellectual developmental disorder, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616362 -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch NCIT:C155998 Developmental and Epileptic Encephalopathy 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616366 MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616367 -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch OMIM:616368 chops syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chops MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch OMIM:616368 chops syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616368 -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds4 -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds4 MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616370 MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfbmft4 -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfbmft3 MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616389 -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 2, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 2, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch OMIM:616390 trichothiodystrophy 2, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd2 -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 2, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616393 +MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616394 -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd3 -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 3, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, complementation group a +MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 3, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 3, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt26 MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616399 -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fneppk2 -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch OMIM:616402 microcephaly 14, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph14 MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616402 MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616409 +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616410 -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 -MONDO:0014627 dystonia 27 skos:closeMatch OMIM:616411 dystonia 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt27 MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt27 type -MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc6 +MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616413 -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ailjk MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 +MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014631 hypomagnesemia, seizures, and intellectual disability skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homgsmr -MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616420 -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae -MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic-atonic epilepsy -MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-atonic epilepsy MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616421 -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-atonic epilepsy +MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic-atonic epilepsy +MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxy10 +MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 -MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch OMIM:616428 microphthalmia, isolated, with coloboma 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcopcb10 +MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616428 -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616430 MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd40 MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t +MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group t MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616435 +MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616436 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616439 MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616445 -MONDO:0014642 candidiasis, familial, 9 skos:closeMatch OMIM:616445 candidiasis, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf9 -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616449 -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bvsys -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basel-vanagaite-smirin-yosef syndrome +MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 +MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616451 MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616451 -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616452 -MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell expansion with nfkb and t-cell anergy -MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benta -MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy MONDO:0014645 BENTA disease skos:closeMatch NCIT:C176791 B-Cell Expansion with NFKB and T-Cell Anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy -MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch OMIM:616455 zimmermann-laband syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zls2 +MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy +MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell expansion with nfkb and t-cell anergy MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616455 MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616457 MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-raqad syndrome MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-raqad syndrome -MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ars MONDO:0014648 Al-Raqad syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616459 MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt50 @@ -30043,163 +26702,141 @@ MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epil MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616461 MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616462 -MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch OMIM:616462 acrofacial dysostosis, cincinnati iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afdcin -MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch OMIM:616468 exudative vitreoretinopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr6 MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616468 MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616469 -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch OMIM:616470 ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ucmd2 MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616479 -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peob2 MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616479 MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, severe, with developmental delay and acanthosis nigricans +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondroplasia, severe, with developmental delay and acanthosis nigricans +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, severe, with developmental delay and acanthosis nigricans MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616482 -MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616483 MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616486 MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616488 MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 +MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616490 MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616491 +MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616494 MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616500 MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616501 -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616502 -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cord21 -MONDO:0014670 lethal congenital contracture syndrome 9 skos:closeMatch OMIM:616503 lethal congenital contracture syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs9 MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616505 -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 +MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616511 -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb104 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616515 -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmd3 -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edmd3 +MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement +MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616517 MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616521 MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae7 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch OMIM:616534 thyroid cancer, nonmedullary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmtc4 MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616534 -MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch OMIM:616535 thyroid cancer, nonmedullary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmtc5 MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616535 -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye brain disorder, dag1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddga9 -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616539 +MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 +MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye brain disorder, dag1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616539 MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616540 MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616541 -MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch OMIM:616541 short stature, microcephaly, and endocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssmed MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616544 MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616546 MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616549 -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs4 -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616559 MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement +MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616559 MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616562 MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616564 MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 -MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch OMIM:616566 spondylocostal dysostosis 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo6 -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0014695 glioma susceptibility 9 skos:closeMatch OMIM:616568 glioma susceptibility 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glm9 MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 +MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfkb1 deficiency +MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid12 -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 +MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfkb1 deficiency MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, hearing loss, and mental retardation syndrome +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616579 MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auks MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616586 +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616589 -MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch OMIM:616589 adams-oliver syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos6 -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch OMIM:616592 kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kogs MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch OMIM:616592 kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616592 MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 -MONDO:0014705 craniosynostosis 6 skos:closeMatch OMIM:616602 craniosynostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs6 MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616603 -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616604 MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative neoplasms, familial, susceptibility to -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616604 MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch NCIT:C185638 Ring Chromosome 14 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616625 MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616629 @@ -30208,132 +26845,119 @@ MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, cortical blindness, and microcephaly syndrome MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, cortical blindness, and microcephaly syndrome MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616636 -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sks MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616638 -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616640 MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616645 MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616647 -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 8 semapv:RegularExpressionReplacement MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 8 semapv:RegularExpressionReplacement +MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 8 semapv:RegularExpressionReplacement MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rfmn -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616651 -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman syndrome MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency +MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 +MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616651 +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yuan-harel-lupski syndrome MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616652 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yuan-harel-lupski syndrome -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616654 -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia, thin corpus callosum, and progressive microcephaly -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spatccm +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616657 MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive charcot-marie-tooth disorder type 2x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616668 MONDO:0014727 immunodeficiency 45 skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616669 MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616672 -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement +MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616680 MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616681 MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616682 -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616683 MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vps11-related autosomal recessive hypomyelinating leukodystrophy +MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616683 MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616684 -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616687 +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616688 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis gardos -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616689 +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis gardos +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, congenital, unilateral or asymmetric MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna69 MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616697 -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, congenital, unilateral or asymmetric -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb97 +MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616705 -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna68 MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10p12-p11 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10p12-p11 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 21, with hepatopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616719 +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 21, with hepatopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014746 SLC39A8-CDG skos:closeMatch OMIM:616721 congenital disorder of glycosylation, iia iin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iin MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616721 -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdicc -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy and iris coloboma with or without congenital cataract MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy and iris coloboma with or without congenital cataract -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy and iris coloboma with or without congenital cataract +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616723 +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616724 MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616726 MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 33, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cprf +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616728 MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616730 MONDO:0014753 autosomal recessive optic atrophy skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive isolated optic atrophy -MONDO:0014753 autosomal recessive optic atrophy skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia and mental retardation syndrome +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tks -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616737 MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616738 MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency due to tfrc deficiency +MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616749 -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and psychomotor retardation with or without seizures -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spprs MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia and psychomotor retardation with or without seizures +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and psychomotor retardation with or without seizures MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616756 -MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 3, with hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616760 +MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 3, with hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy and acquired microcephaly with or without dystonia -MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ldamd MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy and acquired microcephaly with or without dystonia MONDO:0014767 Seckel syndrome 9 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616777 MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616779 -MONDO:0014769 inherited oocyte maturation defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd MONDO:0014770 Joubert syndrome 25 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616781 MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616784 MONDO:0014772 orofacial cleft 15 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616788 -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and distinctive facial features with or without cardiac defects MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616789 +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and distinctive facial features with or without cardiac defects MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616792 MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616794 MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616795 @@ -30344,7 +26968,6 @@ MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:L MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616809 MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616811 -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coxpd29 MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616812 MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616816 MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616817 @@ -30353,43 +26976,39 @@ MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dys MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-flusser syndrome MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:closeMatch Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616827 -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616828 MONDO:0014789 CCDC115-CDG skos:closeMatch OMIM:616828 congenital disorder of glycosylation, iia iio semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iio -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 +MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616828 MONDO:0014790 TMEM199-CDG skos:closeMatch OMIM:616829 congenital disorder of glycosylation, iia iip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iip -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc4mol deficiency +MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616834 -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616835 -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc4mol deficiency MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014795 exercise intolerance, riboflavin-responsive skos:closeMatch OMIM:616839 exercise intolerance, riboflavin-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrei +MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616835 MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616840 MONDO:0014797 lymphatic malformation 6 skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0014797 lymphatic malformation 6 skos:closeMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0014798 brachydactyly type A1D skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616849 MONDO:0014799 cataract 45 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616851 -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch OMIM:616852 myopathy, scapulohumeroperoneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shpm MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616852 -MONDO:0014801 even-plus syndrome skos:closeMatch OMIM:616854 even-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616854 -MONDO:0014802 Cowden syndrome 7 skos:closeMatch OMIM:616858 cowden syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cws7 +MONDO:0014801 even-plus syndrome skos:closeMatch OMIM:616854 even-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations MONDO:0014802 Cowden syndrome 7 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616858 -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset spasticity with hyperglycinemia MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616859 +MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset spasticity with hyperglycinemia MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616860 -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 16p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 MONDO:0014805 Hao-Fountain syndrome skos:closeMatch OMIM:616863 hao-fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014805 Hao-Fountain syndrome skos:closeMatch OMIM:616863 hao-fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 16p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616866 MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616867 -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616868 MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, congenital sodium +MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616868 MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616871 MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavipmr MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy, visual impairment, and psychomotor retardation MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 MONDO:0014813 hypomyelinating leukodystrophy 13 skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616881 MONDO:0014814 advanced sleep phase syndrome 3 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616882 MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 @@ -30398,23 +27017,19 @@ MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic s MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616893 MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oclsbg MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616897 MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616898 +MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616900 MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616907 MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icf3 MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616910 -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616911 -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icf4 MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616911 MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616913 -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfls MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfan-progeroid-lipodystrophy syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid-progeroid syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616914 @@ -30422,31 +27037,26 @@ MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Or MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616922 MONDO:0014837 thrombocytopenia 6 skos:closeMatch OMIM:616937 thrombocytopenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616937 -MONDO:0014837 thrombocytopenia 6 skos:closeMatch OMIM:616937 thrombocytopenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thc6 MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css5 MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616938 +MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to tcf3 defect MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to tcf3 defect MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 MONDO:0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616949 MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616950 MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616954 -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch OMIM:616954 you-hoover-fong syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yhfs MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616963 -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna70 +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna66 +MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616969 MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616973 MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616974 @@ -30454,54 +27064,49 @@ MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616977 MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 +MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617008 MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617011 MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617013 MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn7 -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disorder type 2t semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2t -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar-cmt2t +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disorder type 2t semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617020 MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617021 MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617022 MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617023 MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617024 -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus comedonicus -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nc MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617025 +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus comedonicus +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus MONDO:0014873 nevus comedonicus syndrome skos:closeMatch NCIT:C3946 Nevus Comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 -MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, primary, and hypertension +MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 +MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenylosuccinate synthetase-like type 1-related distal myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617030 MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adssl1-related distal myopathy -MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenylosuccinate synthetase-like type 1-related distal myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617035 -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 -MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sddhd -MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, developmental delay, and congenital heart defects +MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, developmental delay, and congenital heart defects +MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, developmental delay, and congenital heart defects MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617044 -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617046 MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 77 +MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617046 MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617051 @@ -30516,87 +27121,82 @@ MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orp MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617066 MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617069 -MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617070 MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617072 +MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617070 MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2y +MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617072 MONDO:0014901 tooth agenesis, selective, 8 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617073 MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617075 MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch OMIM:617080 seizures, benign familial infantile, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617086 -MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:closeMatch OMIM:617087 charcot-marie-tooth disease, axonal, autosomal recessive, iia 2a2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2a2b -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 +MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617090 -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 34, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617091 +MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 34, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617092 MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 35, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617093 -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, panniculitis, and dermatosis syndrome +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hereditary persistence of fetal hemoglobin -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hereditary persistence of fetal hemoglobin +MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome +MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome +MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617102 -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 +MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch NCIT:C188142 Developmental and Epileptic Encephalopathy 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617106 -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thauvin-robinet-faivre syndrome -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thauvin-robinet-faivre syndrome MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thauvin-robinet-faivre syndrome MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617107 +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thauvin-robinet-faivre syndrome +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thauvin-robinet-faivre syndrome MONDO:0014919 sessile serrated polyposis cancer syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617108 MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617111 MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617113 -MONDO:0014922 myofibrillar myopathy 7 skos:closeMatch OMIM:617114 myopathy, myofibrillar, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm7 MONDO:0014922 myofibrillar myopathy 7 skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617114 MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617115 MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs20 -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement +MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617120 -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 +MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617123 MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617125 MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617127 MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617132 MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617137 -MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome -MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome -MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttks MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617141 MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617142 -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 +MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617153 MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form -MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:closeMatch OMIM:617156 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps15 +MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, hepatocerebral form MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deoxyguanosine kinase deficiency MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711385 -MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, hepatocerebral form MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617157 -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dmrv MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617158 MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch OMIM:617159 sifrim-hitz-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617162 @@ -30606,19 +27206,17 @@ MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:913 MONDO:0014951 Sotos syndrome 3 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskinesia, seizures, and intellectual developmental disorder MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617171 -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch NCIT:C164154 Intellectual Developmental Disorder with Cardiac Arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch NCIT:C164154 Intellectual Developmental Disorder with Cardiac Arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edspd2 MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal dystrophy with or without extraocular anomalies MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617175 +MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal dystrophy with or without extraocular anomalies MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 -MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pebel MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 MONDO:0014961 spermatogenic failure 16 skos:closeMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome +MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 @@ -30631,29 +27229,26 @@ MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617228 MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 -MONDO:0014980 cone-rod dystrophy and hearing loss skos:exactMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crdhl -MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities +MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 -MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lics -MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617243 +MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617244 MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group r MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group r -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617244 MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617247 -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group u MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group u +MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group u MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617251 MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617252 MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617253 -MONDO:0014993 myofibrillar myopathy 8 skos:closeMatch OMIM:617258 myopathy, myofibrillar, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm8 -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 +MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 MONDO:0014998 glaucoma 3, primary congenital, E skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617272 MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617276 MONDO:0015001 atrial fibrillation, familial, 18 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617280 @@ -30661,161 +27256,145 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617282 MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617290 MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617294 -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, intellectual disability, nystagmus, and obesity -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617296 -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sino +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, intellectual disability, nystagmus, and obesity +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 -MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch OMIM:617297 amelogenesis imperfecta, iia 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ai1j -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine +MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617301 MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine +MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617301 MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617302 MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617303 MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617304 -MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch OMIM:617304 retinitis pigmentosa 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp77 MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617306 MONDO:0015016 anterior segment dysgenesis 6 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617315 -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 +MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617336 MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617337 -MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc2 MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617341 -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048230 MONDO:0015028 48,XXYY syndrome skos:closeMatch NCIT:C89801 XXYY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxyy syndrome +MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 MONDO:0015031 extraneural perineurioma skos:exactMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label soft tissue perineurioma MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370658 MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 1 +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 2 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318551 MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021071 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862892 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema induced by ace inhibitors, susceptibility to MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema induced by ace inhibitors, susceptibility to -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeacei +MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema induced by ace inhibitors, susceptibility to MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029542 MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751549 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gnet -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135090 Jejunal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135092 Ileal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor +MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135090 Jejunal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135092 Ileal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of appendix MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colonic net MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the rectum MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumor MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of anal canal -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007476 +MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549473 -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome +MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007476 MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataracts-motor neuropathy-short stature-skeletal anomalies syndrome -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3160906 +MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071150 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054329 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553669 +MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3160906 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553669 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054329 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pct MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052381 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271737 MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240200 +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NCIT:C113814 Autoimmune Primary Adrenal Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune primary adrenal insufficiency -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271737 +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined t and b cell immunodeficiency -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label kostmann syndrome MONDO:0015134 constitutional neutropenia skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label kostmann syndrome MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity skos:closeMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency due to a defect in innate immunity -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034533 MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015974 +MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034533 MONDO:0015141 disorder of medulla oblongata skos:closeMatch Orphanet:102000 Medullar disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medullar disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement -MONDO:0015148 lissencephaly type 3 skos:exactMatch NCIT:C148461 Lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement -MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 3 semapv:RegularExpressionReplacement +MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement +MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 3 semapv:RegularExpressionReplacement +MONDO:0015148 lissencephaly type 3 skos:exactMatch NCIT:C148461 Lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393555 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931907 -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streeter dysplasia -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amniotic band syndrome -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constriction rings syndrome -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ring constrictions -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streeter anomaly -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constriction band syndrome -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of arm +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adam complex -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label constricting bands, congenital -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constricting bands, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label constricting bands, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streeter anomaly MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyoplasia congenita -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia +MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constriction band syndrome +MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amniotic band syndrome +MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constriction rings syndrome +MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence +MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streeter dysplasia +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of arm +MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ring constrictions MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051643 +MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia +MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyoplasia congenita MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609129 MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069002 -MONDO:0015175 autoimmune pancreatitis skos:exactMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aip -MONDO:0015175 autoimmune pancreatitis skos:exactMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aip -MONDO:0015175 autoimmune pancreatitis skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aip MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mad MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432226 -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036992 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 +MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036992 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345891 +MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 +MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020529 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020305 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020529 -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002896 +MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040661 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064895 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431420 +MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 +MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002533 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162576 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 @@ -30823,186 +27402,159 @@ MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:Lexic MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum-imperforate anus syndrome MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061060 MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956147 -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 +MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056715 +MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056715 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752166 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004775 +MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931593 MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931398 MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arrhinia -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome +MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digitotalar dysmorphism +MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism +MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220662 MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852085 -MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digitotalar dysmorphism -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kuskokwim syndrome MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 +MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kuskokwim syndrome MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch OMIM:102565 FLNC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abpa -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allergic bronchopulmonary aspergillosis, familial +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allergic bronchopulmonary aspergillosis, familial -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053854 +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allergic bronchopulmonary aspergillosis, familial MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 -MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oms +MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 +MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053854 MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930956 -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrogenesis imperfecta -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dba -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062989 -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260899 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260899 +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062989 +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrogenesis imperfecta +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039603 +MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement -MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039603 MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013029 MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012561 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432228 -MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 -MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome -MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 +MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 +MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 +MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome +MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bronchiolitis obliterans with obstructive pulmonary disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boop MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchiolitis obliterans -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym feingold syndrome -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oded syndrome MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oded syndrome MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022681 -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acholinesterasemia -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bched +MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, postanesthetic MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suxamethonium sensitivity -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acholinesterasemia MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:177400 BCHE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase e1 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 +MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931681 -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 +MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004485 MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial avsd -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600309 MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238462 MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027101 -MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtc -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic acinar carcinoma -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006845 -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmc -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009007 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009007 MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfc syndrome +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 MONDO:0015281 atrial standstill skos:exactMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931548 -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart-hand syndrome type 2 semapv:RegularExpressionReplacement MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931323 -MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym name syndrome +MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart-hand syndrome type 2 semapv:RegularExpressionReplacement MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney syndrome -MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lamb syndrome -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 +MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym name syndrome MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 +MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lamb syndrome MONDO:0015285 Carney complex skos:exactMatch NCIT:C71638 Lamb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lamb +MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 +MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282577 -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339296 MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069732 +MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339296 MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318020 -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch OMIM:601633 NSF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nsf MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1619692 +MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C115158 Nephrogenic Systemic Fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888044 -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch OMIM:601633 NSF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsf MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067467 -MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C115158 Nephrogenic Systemic Fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022821 +MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0156372 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268397 -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym plca -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011659 +MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056953 MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546394 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270617 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003708 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003074 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 @@ -31010,36 +27562,28 @@ MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrom MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393551 MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0396058 MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931391 -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adrenomyeloneuropathy -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenomyeloneuropathy -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:605799 AMN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amn -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:605799 AMN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amn MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 +MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adrenomyeloneuropathy MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058919 MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270627 -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311284 +MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618874 -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma2 -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833308 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600794 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833308 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indifference to pain, congenital, autosomal recessive -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cip +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274753 -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 -MONDO:0015375 orofaciodigital syndrome skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofd -MONDO:0015375 orofaciodigital syndrome skos:exactMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofd MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266725 MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dacryocystocele MONDO:0015392 nasal glial heterotopia skos:exactMatch NCIT:C121688 Nasal Glial Heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia @@ -31047,249 +27591,224 @@ MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glia MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339880 MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265240 MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum MONDO:0015398 hemifacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemifacial microsomia -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275417 MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch NCIT:C172208 Non-Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275421 +MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275417 MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch NCIT:C172207 Rapidly Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma +MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275421 MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gla MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gla MONDO:0015411 facial cleft skos:closeMatch NCIT:C124573 Prosoposchisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prosoposchisis -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number type 7 facial cleft semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 12 semapv:RegularExpressionReplacement MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 12 semapv:RegularExpressionReplacement -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 13 semapv:RegularExpressionReplacement MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432242 -MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification +MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome +MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432242 MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931026 +MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015430 ring chromosome 1 skos:closeMatch OMIM:609685 CDCA7L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r1 MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265438 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015431 ring chromosome 10 skos:closeMatch OMIM:603820 FFAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r10 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement +MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 +MONDO:0015431 ring chromosome 10 skos:closeMatch OMIM:603820 FFAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r10 MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 12 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795843 +MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 17 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265475 MONDO:0015434 ring chromosome 18 skos:closeMatch NCIT:C175706 Ring Chromosome 18 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 19 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch NCIT:C169001 Ring Chromosome 20 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 +MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 MONDO:0015437 ring chromosome 21 skos:closeMatch NCIT:C186278 Ring Chromosome 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 -MONDO:0015438 ring chromosome 22 skos:closeMatch NCIT:C179702 Ring Chromosome 22 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 +MONDO:0015438 ring chromosome 22 skos:closeMatch NCIT:C179702 Ring Chromosome 22 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 +MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 4 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 6 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 7 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 +MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch NCIT:C175705 Ring Chromosome 8 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3805239 MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated complex iii deficiency MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045545 -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fifth digit syndrome MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coffin-siris syndrome MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coffin-siris syndrome +MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fifth digit syndrome +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056667 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028176 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch OMIM:606761 MLYCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028793 -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym npc MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931822 MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasopharyngeal carcinoma -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931822 +MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931543 +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312860 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniodigital-intellectual disability syndrome -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 MONDO:0015466 cranio-osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 -MONDO:0015470 familial isolated dilated cardiomyopathy skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 -MONDO:0015470 familial isolated dilated cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 MONDO:0015474 cryptosporidiosis skos:exactMatch NCIT:C35591 Cryptosporidial Gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cryptosporidial gastroenteritis MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 +MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 MONDO:0015483 mandibulofacial dysostosis skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mandibulofacial dysostosis -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 -MONDO:0015484 cysticercosis skos:closeMatch NCIT:C84932 Neurocysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurocysticercosis -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010678 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 +MONDO:0015484 cysticercosis skos:closeMatch NCIT:C84932 Neurocysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurocysticercosis MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile cytochrome c oxidase deficiency -MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 +MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 -MONDO:0015496 macroglossia skos:exactMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024421 +MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025391 -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macroglossia -MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024421 +MONDO:0015496 macroglossia skos:exactMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch OMIM:600650 CPT2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cpt2 -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch OMIM:600650 CPT2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cpt2 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021449 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009447 -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795996 -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sndi +MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile bilateral striatal necrosis -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206732 MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 +MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206732 MONDO:0015526 cold-induced sweating syndrome skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sohar-crisponi syndrome -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376319 -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 +MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399352 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 +MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1565172 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 +MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0347403 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043324 +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043322 MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052575 -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 +MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887558 +MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024291 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015540 hemophagocytic syndrome skos:closeMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hemophagocytic lymphohistiocytosis +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158048 Hemophagocytic syndrome associated with an infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 +MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158048 Hemophagocytic syndrome associated with an infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 -MONDO:0015545 macrophage activation syndrome skos:exactMatch OMIM:165180 MAS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mas -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 -MONDO:0015545 macrophage activation syndrome skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mas +MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711380 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017531 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931179 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 +MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057903 MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024140 MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057929 MONDO:0015588 limbic encephalitis skos:exactMatch NCIT:C4350 Limbic Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar pustulosis -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:600700 LPP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lpp -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:600700 LPP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lpp -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lpp MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050185 -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274788 +MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar pustulosis MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069664 +MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274788 MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle ear anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060957 MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 @@ -31297,115 +27816,99 @@ MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partia MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare acquired aplastic anemia MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chanarin-dorfman syndrome MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chanarin-dorfman syndrome -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 -MONDO:0015613 dentin dysplasia skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dd MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011608 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012468 MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344061 -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034699 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder/hereditary motor and sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282968 MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282971 MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282974 MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282975 MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473579 -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012602 MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004184 MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004184 +MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012602 MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign infantile focal epilepsy with midline spikes and waves during sleep MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393720 MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751791 MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eating reflex epilepsy MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393725 -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 +MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342436 MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271889 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236791 +MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma -MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch OMIM:114840 CEL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cel MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065854 MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346421 -MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch OMIM:114840 CEL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cel MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfra rearrangement MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfrb rearrangement -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1540912 -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hes MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NCIT:C3015 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia +MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038271 -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221027 MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398692 MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044388 MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272238 -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072229 MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3645536 MONDO:0015713 idiopathic central precocious puberty skos:closeMatch Orphanet:169615 Idiopathic central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342544 MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272322 MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272324 MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795845 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 MONDO:0015725 mosaic trisomy 14 skos:closeMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538037 @@ -31423,76 +27926,66 @@ MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 whit MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721005 MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267187 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3710589 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 +MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079772 MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042971 MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268312 +MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008631 -MONDO:0015766 cholera skos:exactMatch NCIT:C157812 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0015766 cholera skos:exactMatch NCIT:C86841 Vibrio cholerae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vibrio cholerae MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 +MONDO:0015766 cholera skos:exactMatch NCIT:C86841 Vibrio cholerae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vibrio cholerae +MONDO:0015766 cholera skos:exactMatch NCIT:C157812 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 +MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 +MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 -MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 8q semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 8q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795829 +MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 8q semapv:RegularExpressionReplacement MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282529 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form -MONDO:0015780 dyskeratosis congenita skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoyeraal-hreidarsson syndrome -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hoyeraal-hreidarsson syndrome -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265965 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hoyeraal-hreidarsson syndrome +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 +MONDO:0015780 dyskeratosis congenita skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoyeraal-hreidarsson syndrome MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931522 -MONDO:0015790 central diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurogenic diabetes insipidus MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068587 +MONDO:0015790 central diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurogenic diabetes insipidus MONDO:0015791 peripheral precocious puberty skos:exactMatch NCIT:C113219 Gonadotropin-Independent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-independent precocious puberty -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843691 -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069351 MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 +MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069351 MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067917 MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334121 +MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067917 MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306794 MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238027 MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443901 MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730271 MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1627767 -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 +MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275321 MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333171 MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274310 -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838348 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 +MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal renal tubular acidosis MONDO:0015827 distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement @@ -31503,85 +27996,77 @@ MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062606 MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004550 MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063146 -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 MONDO:0015854 supernumerary breasts skos:exactMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymastia -MONDO:0015863 polyembryoma skos:closeMatch NCIT:C66776 Gonadal Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonadal polyembryoma +MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334518 +MONDO:0015863 polyembryoma skos:closeMatch NCIT:C66776 Gonadal Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonadal polyembryoma MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334524 MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262659 MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011813 -MONDO:0015873 Paget disease of the nipple skos:closeMatch OMIM:168600 parkinson disease, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pd MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033367 MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704323 MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930953 -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym growth hormone insensitivity syndrome -MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 +MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302280 +MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302280 +MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020595 MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 -MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halp1 MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare syndromic dyslipidemia -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplastic anemia MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym matins -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dohle leukocyte inclusions with giant platelets MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome with macrothrombocytopenia, formerly -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with leukocyte inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with dispersed leukocytic inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dohle leukocyte inclusions with giant platelets MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with dispersed leukocytic inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym matins MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epstein syndrome -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fechtner syndrome MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131650 Sebastian Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sebastian syndrome -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fechtner syndrome +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 MONDO:0015914 primary orthostatic hypotension skos:closeMatch NCIT:C170885 Neurogenic Orthostatic Hypotension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic orthostatic hypotension +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary arterial hypertension -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary arterial hypertension -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NCIT:C97119 Idiopathic Pulmonary Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic pulmonary hypertension -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:612349 PAH semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pah -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:612349 PAH semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pah -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pah -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022611 MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interstitial lung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 +MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 +MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 +MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032273 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 +MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 +MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018207 +MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmd MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym css MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048594 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008728 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931613 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 @@ -31590,213 +28075,190 @@ MONDO:0015947 inherited ichthyosis skos:closeMatch OMIM:242300 ichthyosis, conge MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic renal tubular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monogenic diabetes MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic diabetes +MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085110 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 +MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085110 +MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 -MONDO:0015977 agammaglobulinemia skos:exactMatch OMIM:147020 IGHM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ighm -MONDO:0015977 agammaglobulinemia skos:exactMatch OMIM:147020 IGHM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ighm -MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia +MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis, bilateral -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051951 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 MONDO:0015987 scimitar syndrome skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714581 -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency +MONDO:0015991 citrullinemia skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency +MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175683 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175683 -MONDO:0015991 citrullinemia skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone rod dystrophy MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone-rod retinal dystrophy -MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy -MONDO:0015993 cone-rod dystrophy skos:exactMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crd MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy +MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931505 -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014145 +MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 -MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens +MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014145 MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2746066 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edskscl1 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keds +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds vi MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type vi -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds vi -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keds -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 +MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 MONDO:0016003 ehrlichiosis skos:narrowMatch ICD10CM:A77.49 Other ehrlichiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ehrlichiosis semapv:RegularExpressionReplacement MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432367 MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch NCIT:C98928 Fetal Methotrexate Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal methotrexate syndrome +MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432367 MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009835 +MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009207 MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432371 -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 -MONDO:0016008 fetal hydantoin syndrome skos:exactMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal hydantoin syndrome MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 +MONDO:0016008 fetal hydantoin syndrome skos:exactMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal hydantoin syndrome +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265373 +MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 +MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k antagonist embryofetopathy MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051445 MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265374 -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k antagonist embryofetopathy -MONDO:0016011 fetal alcohol syndrome skos:exactMatch OMIM:134637 FAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fas -MONDO:0016011 fetal alcohol syndrome skos:exactMatch OMIM:134637 FAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fas -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016845 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012780 +MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016845 MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853695 +MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012780 MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minamata disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432373 MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 +MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rasmussen syndrome +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270855 -MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016029 esthesioneuroblastoma skos:closeMatch NCIT:C3789 Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label olfactory neuroblastoma MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olfactory neuroblastoma -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053873 -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 +MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931183 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056354 +MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270972 +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056354 +MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027577 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028913 +MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027577 MONDO:0016035 Nelson syndrome skos:closeMatch OMIM:125550 dermal ridges-off-the-end semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ridges-off-the-end syndrome MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406571 MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch NCIT:C4818 Calcifying Aponeurotic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553647 +MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318562 MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2029348 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009259 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009260 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 +MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014236 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014801 -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 -MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.19 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016047 endophthalmitis skos:narrowMatch ICD10WHO:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement +MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.19 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931789 MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003747 MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027534 MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym true microcephaly -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalocele -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 +MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 MONDO:0016063 Cowden disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome MONDO:0016063 Cowden disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051906 -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008925 -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 MONDO:0016064 cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft palate MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 +MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008925 +MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 +MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432348 MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399440 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 +MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016674 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016085 -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931610 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 +MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931610 MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011384 MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069441 +MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931411 MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537065 MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537065 -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931411 MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535963 MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535963 MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862178 -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenoma of ovary in childhood +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucinous cystadenoma of ovary in childhood +MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenoma of ovary in childhood MONDO:0016093 borderline epithelial tumor of ovary skos:closeMatch Orphanet:206473 Borderline epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665489 MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the vagina MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vulvovaginal rhabdomyosarcoma MONDO:0016101 neurolymphomatosis skos:closeMatch NCIT:C84884 Marek Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marek disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027126 MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic disorder semapv:RegularExpressionReplacement -MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbma MONDO:0016115 bulbospinal muscular atrophy of adulthood skos:closeMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bulbospinal muscular atrophy of adult MONDO:0016117 muscular lipidosis skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410214 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279412 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016208 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0150005 MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051512 +MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0150005 MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263997 -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017902 MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262481 +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017902 MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410251 MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-sarcoglycanopathy @@ -31808,53 +28270,48 @@ MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcol MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931587 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with macular degeneration and external ophthalmoplegia +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with retinal degeneration +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar syndrome-pigmentary maculopathy syndrome +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sca7 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sca7 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with pigmentary retinopathy -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar syndrome-pigmentary maculopathy syndrome +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with pigmentary retinopathy +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with macular degeneration and external ophthalmoplegia MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796418 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068850 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2316212 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 +MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 +MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836081 -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 +MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665812 -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lens-induced iridocyclitis +MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 +MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign nocturnal alternating hemiplegia of childhood MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited congenital spastic tetraplegia -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064924 -MONDO:0016217 mal de Debarquement skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdd MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018378 -MONDO:0016218 Guillain-Barre syndrome skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gbs +MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement +MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018767 +MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018378 MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304508 MONDO:0016226 specific language disorder skos:exactMatch NCIT:C35546 Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysphasia MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isaacs syndrome @@ -31862,30 +28319,28 @@ MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capill MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367420 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma +MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018825 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266119 -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 +MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0016238 solitary fibrous tumor skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011777 MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010690 +MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011777 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018987 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019464 -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahc -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahc -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338488 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338488 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alternating hemiplegia +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita +MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019021 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018883 -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019021 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238159 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053215 MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931788 @@ -31896,22 +28351,21 @@ MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinofibroma of the corpus uteri MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma of the corpus uteri MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280631 -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003827 -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aih MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepatitis with Centrilobular Necrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune hepatitis with centrilobular necrosis +MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 +MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003827 MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch NCIT:C8719 Endometrial Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial squamous cell carcinoma MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial squamous cell carcinoma -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch NCIT:C40156 Endometrial Undifferentiated Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial undifferentiated carcinoma MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma +MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch NCIT:C40156 Endometrial Undifferentiated Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial undifferentiated carcinoma MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial transitional cell carcinoma MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the corpus uteri -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label true hermaphroditism -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotesticular dsd +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label true hermaphroditism MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cervical adenoid basal carcinoma MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical adenoid basal carcinoma MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the cervix uteri @@ -31919,96 +28373,78 @@ MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306980 -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch OMIM:164035 NCL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ncl -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch OMIM:164035 NCL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ncl MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011120 -MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch OMIM:102578 PML semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pml -MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch OMIM:102578 PML semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pml -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036807 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023524 +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036807 MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161105 -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236490 -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dcm -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 +MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020225 -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010506 MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement +MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010506 MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement -MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement -MONDO:0016349 congenital hydrocephalus skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyc3 +MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement +MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 MONDO:0016352 idiopathic inherited hypercalciuria skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypercalciuria MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0016355 semilobar holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748540 MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290138 -MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch OMIM:608252 AFAP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afap MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674616 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch NCIT:C148259 Joubert Syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts3 -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 MONDO:0016367 dermatomyositis skos:closeMatch NCIT:C27313 Adult Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult dermatomyositis -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch NCIT:C178826 Rothmund-Thomson Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 +MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 +MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch NCIT:C178827 Rothmund-Thomson Syndrome Type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 +MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 +MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbd MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238265 -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018391 MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154731 -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010269 MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym facial neuralgia +MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010269 MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406464 -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145700 MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538389 MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538389 +MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145700 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029147 +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931685 MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931722 MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 @@ -32016,72 +28452,55 @@ MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028933 MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158981 -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931644 -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 +MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch1 MONDO:0016410 central congenital hypothyroidism skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsh deficiency MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346153 MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial male MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051222 -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch OMIM:608566 MUC15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pas3 MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535942 -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051919 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baló concentric sclerosis +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010252 -MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atriodigital dysplasia MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart-hand syndrome +MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atriodigital dysplasia MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear focal elastosis MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406555 MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274759 MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406550 MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406549 MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739094 -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:exactMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ts MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267126 -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342337 -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003949 -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 +MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265334 MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 -MONDO:0016471 pachyonychia congenita skos:exactMatch OMIM:608786 PC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pc -MONDO:0016471 pachyonychia congenita skos:exactMatch OMIM:608786 PC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pc +MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pachyonychia congenita type 1 semapv:RegularExpressionReplacement MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pachyonychia congenita type 1 semapv:RegularExpressionReplacement -MONDO:0016471 pachyonychia congenita skos:exactMatch OMIM:612283 PROC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pc +MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013618 -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013706 +MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cerebral saccular aneurysm -MONDO:0016484 Usher syndrome type 2 skos:exactMatch OMIM:608400 USH2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush2 MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339534 -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 -MONDO:0016485 Usher syndrome type 3 skos:exactMatch OMIM:606397 CLRN1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ush3 -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062923 -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012236 MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472777 MONDO:0016493 variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label variant of guillain-barré syndrome MONDO:0016494 regional variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label regional variant of guillain-barré syndrome @@ -32090,260 +28509,213 @@ MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome sk MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraparetic variant of guillain-barré syndrome MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315246 MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenocortical carcinoma with pure aldosterone hypersecretion -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796004 -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kabuki make-up syndrome MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kabuki syndrome MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niikawa-kuroki syndrome -MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kms -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796004 +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265291 +MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenny syndrome MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931444 -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064585 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 +MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3713420 -MONDO:0016525 familial hyperaldosteronism skos:exactMatch OMIM:136850 FH semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fh -MONDO:0016525 familial hyperaldosteronism skos:exactMatch OMIM:136850 FH semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fh MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265428 MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body stalk anomaly -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265761 +MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly and epileptic encephalopathy +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly and epileptic encephalopathy MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048816 MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238111 -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly and epileptic encephalopathy -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly and epileptic encephalopathy -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:300451 EDA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eda -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:300451 EDA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eda +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd27 deficiency MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751435 MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536418 MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536418 -MONDO:0016546 primary orthostatic tremor skos:closeMatch OMIM:167050 OXT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ot MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 +MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 +MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024792 MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931080 -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037418 -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 +MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000746 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 +MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835172 -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kartagener syndrome -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:212790 premature centromere division semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069713 -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd MONDO:0016575 primary ciliary dyskinesia skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome +MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kartagener syndrome MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split-hand deformity MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated split hand-split foot malformation MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265554 +MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated split hand-split foot malformation +MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent truncus arteriosus -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cthm MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym truncus arteriosus communis -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interrupted aortic arch MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double-outlet right ventricle -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857586 +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interrupted aortic arch +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch -MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857586 MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042949 MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221013 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349788 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 -MONDO:0016589 progressive cerebello-cerebral atrophy skos:exactMatch OMIM:232000 PCCA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcca -MONDO:0016589 progressive cerebello-cerebral atrophy skos:exactMatch OMIM:232000 PCCA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pcca -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155866 MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035667 +MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155866 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855923 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mabry syndrome -MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym citrin deficiency -MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym citrin deficiency MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997910 -MONDO:0016603 citrullinemia type II skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ctln2 -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673477 +MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym citrin deficiency +MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym citrin deficiency MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatasia, perinatal lethal -MONDO:0016607 odontohypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym odontohypophosphatasia +MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673477 MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840322 +MONDO:0016607 odontohypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym odontohypophosphatasia MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050183 MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260965 -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phoar1 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751208 +MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower limb malformation-hypospadias syndrome MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930962 +MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower limb malformation-hypospadias syndrome MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931047 -MONDO:0016642 meningioma skos:closeMatch NCIT:C3229 Meningeal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningeal neoplasm MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma -MONDO:0016642 meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 -MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016642 meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma +MONDO:0016642 meningioma skos:closeMatch NCIT:C3229 Meningeal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningeal neoplasm +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fnd1 -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 +MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016643 frontonasal dysplasia skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontonasal dysplasia MONDO:0016643 frontonasal dysplasia skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0016644 logopenic progressive aphasia skos:exactMatch OMIM:152200 LPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lpa -MONDO:0016644 logopenic progressive aphasia skos:exactMatch OMIM:152200 LPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lpa +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028197 MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome -MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micro syndrome MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 5 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micro syndrome MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 5 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 8q21.11 microdeletion syndrome MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711387 MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040655 MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055579 MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch NCIT:C95539 Sickle Beta Thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sickle beta thalassemia -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040655 MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch NCIT:C81288 S-Beta Thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label s-beta thalassemia -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057072 +MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272084 MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056724 MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272085 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendo calcaneus, short MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital plantar contractures -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia +MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 +MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860229 +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label high-grade astrocytoma -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206726 MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018340 +MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206726 MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334588 -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334576 MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066254 -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 +MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334576 MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334579 +MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002224 MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065869 MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280785 MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334580 -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334582 MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065889 +MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334582 MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334581 MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334586 MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334583 MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1519086 -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pma MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205768 -MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma -MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglioma MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030286 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglioma +MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026659 MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334590 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 -MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014967 +MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymoma MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205769 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014968 MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280788 -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251651 Oligoastrocytic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 +MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 +MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431108 MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363903 MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334587 MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751291 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0700367 +MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085138 MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067478 MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus carcinoma MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus carcinoma -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931529 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205898 MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050487 MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035059 @@ -32351,39 +28723,35 @@ MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:Lex MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985219 MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017701 MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206716 +MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017701 MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431112 MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985174 MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025284 MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061282 MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266113 -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant melanoma of meninges +MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206734 MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018813 MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cleft palate-abnormal retinal pigmentation syndrome MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930954 MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266188 -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029267 -MONDO:0016755 neurofibroma skos:closeMatch OMIM:600728 NFIB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nfib -MONDO:0016755 neurofibroma skos:closeMatch OMIM:600728 NFIB semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfib +MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334616 +MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch2 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 +MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 +MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sed and semd MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 +MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023650 MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406365 MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406363 @@ -32396,65 +28764,57 @@ MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complet MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334529 MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266159 MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683791 -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia with epilepsy +MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 +MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna-associated leigh syndrome -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070612 MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 +MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome +MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028047 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 MONDO:0016820 Moyamoya disease skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 +MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028427 -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 +MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251950 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmla MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251950 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 -MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch OMIM:607574 ARSA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arsa -MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch OMIM:607574 ARSA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arsa -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182170 MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835084 MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266833 MONDO:0016829 familial visceral myopathy skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megaduodenum and/or megacystis MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795865 MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751547 MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome y syndrome -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic ductular hypoplasia, syndromatic +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym algs1 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with peripheral pulmonary stenosis +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic ductular hypoplasia, syndromatic +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch NCIT:C36501 Loss of Chromosome 1p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 1p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795796 @@ -32466,231 +28826,183 @@ MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch O MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial monosomy of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795839 MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch NCIT:C37312 Loss of Chromosome 11q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 11q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch NCIT:C36497 Loss of Chromosome 13q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 13q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NCIT:C36521 Partial Trisomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partial trisomy type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0686353 MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049288 MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049288 MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266092 MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disorder syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002476 MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018923 -MONDO:0016983 Bartter syndrome with hypocalcemia skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 -MONDO:0016983 Bartter syndrome with hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0016983 Bartter syndrome with hypocalcemia skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002476 MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type v +MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027961 MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051713 -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelanosis of ito MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelanosis of ito MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406819 -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhi MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016782 MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017406 MONDO:0016990 acquired prothrombin deficiency skos:closeMatch NCIT:C131622 Acquired Factor II Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired factor ii deficiency MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392610 MONDO:0016993 generalized peeling skin syndrome type C skos:closeMatch Orphanet:263558 Peeling skin syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type c MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low-birth-weight dwarfism with skeletal dysplasia MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taybi-linder syndrome +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym child syndrome MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child +MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym child syndrome MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label child -MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thanatophoric dysplasia MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thanatophoric dwarfism +MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thanatophoric dysplasia MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332965 MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070665 -MONDO:0017046 neuroepithelioma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 -MONDO:0017046 neuroepithelioma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 -MONDO:0017046 neuroepithelioma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 +MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332965 +MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 +MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spina bifida cystica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Spina bifida aperta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida aperta MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:93969 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele +MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Spina bifida aperta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida aperta MONDO:0017069 spina bifida cystica skos:closeMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele -MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele +MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spina bifida cystica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009694 MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele +MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124517 Cranial Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arc syndrome MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arc syndrome -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028271 +MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029502 +MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 MONDO:0017127 inherited soft tissue tumor skos:closeMatch Orphanet:271832 Genetic soft tissue tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic soft tissue tumor MONDO:0017128 inherited digestive tract tumor skos:closeMatch Orphanet:271835 Genetic digestive tract tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic digestive tract tumor MONDO:0017129 inherited cardiac tumor skos:closeMatch Orphanet:271841 Genetic cardiac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic cardiac tumor -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029001 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039202 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz syndrome MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz gbbb syndrome -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome MONDO:0017140 L1 syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crash syndrome -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065151 +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340544 MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imperforate oropharynx-costovertebral anomalies syndrome -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061299 +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029421 -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031231 +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssoaod -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031231 MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ocd -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 -MONDO:0017182 familial hyperinsulinism skos:exactMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhi -MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nesidioblastosis +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029421 +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0017182 familial hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nesidioblastosis +MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072255 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072255 MONDO:0017195 Bruck syndrome skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063718 MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432253 MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931096 -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and related disorders +MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031280 +MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931462 MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059593 MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527306 -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154773 MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000730 +MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154773 MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008864 MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154774 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051714 MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006666 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017218 septopreoptic holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NCIT:C35444 Crescentic Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crescentic glomerulonephritis -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fphh MONDO:0017241 AP4-related intellectual disability and spastic paraplegia skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label severe intellectual disability and progressive spastic paraplegia MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4305323 MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033687 MONDO:0017256 idiopathic anterior uveitis skos:closeMatch Orphanet:280914 Idiopathic anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339315 -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855789 MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label self-improving collodion baby -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855789 MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931617 -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ftd -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallidopontonigral degeneration MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 -MONDO:0017276 frontotemporal dementia skos:narrowMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym frontotemporal dementia semapv:RegularExpressionReplacement MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 +MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068968 +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallidopontonigral degeneration +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia +MONDO:0017276 frontotemporal dementia skos:narrowMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym frontotemporal dementia semapv:RegularExpressionReplacement MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085409 -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854478 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echinococcus multilocularis infection -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868854 +MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067287 MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854394 -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071569 +MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3544214 MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854437 MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730298 -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 -MONDO:0017304 ocular albinism skos:exactMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xloa -MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement +MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement +MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268461 MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0685838 +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym veds MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds type 4 semapv:RegularExpressionReplacement -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930950 -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 -MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis -MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C36293 Ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovalocytosis +MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014490 -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 +MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 +MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis +MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C36293 Ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovalocytosis MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268194 +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arhr -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:closeMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838440 MONDO:0017339 exfoliative ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis exfoliativa +MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838440 MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363744 MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068349 -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3472614 MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065039 +MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3472614 MONDO:0017349 myopericytoma skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302808 MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of tryptophan metabolism @@ -32698,98 +29010,79 @@ MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeM MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342669 MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342690 MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696376 -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035921 +MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010618 MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010618 -MONDO:0017361 congenital rubella syndrome skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crs +MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035921 MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063020 -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 +MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036012 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 +MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 +MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003267 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038294 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035012 MONDO:0017376 reactive arthritis skos:exactMatch NCIT:C34975 Reiter Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiter syndrome MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931655 -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345893 -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048799 MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877055 MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334480 -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015099 MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205944 -MONDO:0017387 epithelioid sarcoma skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym es +MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015099 MONDO:0017395 fixed pigmented erythema skos:exactMatch NCIT:C111986 Fixed Drug Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048796 MONDO:0017398 3MC syndrome skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopalatoskeletal syndrome MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch OMIM:615710 mitchell-riley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615710 -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch OMIM:615710 mitchell-riley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtchrs MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch OMIM:615710 mitchell-riley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349499 MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036172 -MONDO:0017415 multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 MONDO:0017415 multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple pterygium syndrome +MONDO:0017415 multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080040 MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673883 MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001926 MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024500 MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital joint dislocations -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pps +MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym popliteal pterygium syndrome -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 -MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lccs -MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 +MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central polydactyly MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265661 MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital radial head dislocation MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010520 MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931761 MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 +MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukocyte adhesion deficiency -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 MONDO:0017571 Proteus-like syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proteus-like syndrome MONDO:0017571 Proteus-like syndrome skos:exactMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 -MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043848 -MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement -MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10WHO:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014061 -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 +MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10WHO:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculogastrointestinal muscular dystrophy +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 +MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931542 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fryns-aftimos syndrome MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346300 @@ -32803,212 +29096,183 @@ MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orpha MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019054 MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349633 MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332078 -MONDO:0017607 caudal regression sequence skos:exactMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral agenesis syndrome MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867774 -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054842 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068896 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059387 -MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular dysgenesis +MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054842 +MONDO:0017607 caudal regression sequence skos:exactMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral agenesis syndrome MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primitive renal tubule syndrome +MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular dysgenesis MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079298 MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032019 -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079301 MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016109 MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016109 +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079301 MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796264 MONDO:0017615 benign familial infantile epilepsy skos:exactMatch NCIT:C183308 Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959582 +MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pten hamartoma tumor syndrome -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pten hamartoma tumor syndrome MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027123 MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339317 MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058951 MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393565 -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042732 MONDO:0017648 Sydenham chorea skos:exactMatch NCIT:C168445 Sydenham Chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea +MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042732 MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stoll-géraudel-chauvin syndrome MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302839 MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931547 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342707 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0017686 inborn aminoacylase deficiency skos:closeMatch Orphanet:308448 Aminoacylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminoacylase deficiency MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342744 MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342745 MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888924 MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856303 MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856304 -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856305 MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapvr1 +MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency MONDO:0017711 pancreatic colipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic colipase deficiency MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268241 MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268635 MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231530 +MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017083 MONDO:0017719 gangliosidosis skos:narrowMatch ICD10WHO:E75.1 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement MONDO:0017719 gangliosidosis skos:narrowMatch ICD10CM:E75.19 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017083 -MONDO:0017720 GM2 gangliosidosis skos:narrowMatch ICD10CM:E75.09 Other GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gm2 gangliosidosis semapv:RegularExpressionReplacement MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268274 -MONDO:0017726 Tay-Sachs disease, b variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848914 +MONDO:0017720 GM2 gangliosidosis skos:narrowMatch ICD10CM:E75.09 Other GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gm2 gangliosidosis semapv:RegularExpressionReplacement +MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848914 MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058800 MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010371 MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342851 MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748910 MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342685 -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061091 +MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048260 MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of zinc metabolism and transport MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035436 -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 +MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270857 -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh +MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473527 -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020597 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 +MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 +MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025229 MONDO:0017775 melioidosis skos:narrowMatch ICD10WHO:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement MONDO:0017775 melioidosis skos:narrowMatch ICD10CM:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025229 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 MONDO:0017776 nocardiosis skos:exactMatch NCIT:C171147 Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029444 -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023686 -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619182 +MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C7644 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C4310 Adenomatoid Odontogenic Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenomatoid odontogenic tumor -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma -MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C7644 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma +MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 +MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027139 MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025184 -MONDO:0017807 growing teratoma syndrome skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gts MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151860 -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346305 -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029236 +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 MONDO:0017832 mycobacterium xenopi infection skos:closeMatch NCIT:C150881 Mycobacterium xenopi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mycobacterium xenopi MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratoderma ''en cocardes'' MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 +MONDO:0017838 sclerosteosis skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265301 MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 -MONDO:0017838 sclerosteosis skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-retinal syndrome -MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senior-loken syndrome +MONDO:0017842 Senior-Loken syndrome skos:exactMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 -MONDO:0017842 Senior-Loken syndrome skos:exactMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome +MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senior-loken syndrome MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036920 -MONDO:0017844 Sezary syndrome skos:closeMatch OMIM:111740 blood group, ss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ss MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040493 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049216 +MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 MONDO:0017850 sirenomelia skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sirenomelia -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier-gottron disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratodermia variabilis +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049048 MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265961 -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type -MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hp -MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hp -MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hp -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 +MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratodermia variabilis MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001890 MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023440 -MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome +MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome +MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023440 MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NCIT:C99036 Pulmonary Vein Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary vein stenosis -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valvular pulmonary stenosis MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165028 MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019097 MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282192 @@ -33018,50 +29282,42 @@ MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazil MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch NCIT:C14213 Hantavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hantavirus MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019143 MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243025 -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039143 MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035613 -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever +MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039143 MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022810 -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019103 MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030310 +MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019103 MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rccp1 -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement +MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306837 -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprcc +MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266042 -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931508 MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gssd -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5-oxoprolinuria MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutathione synthetase deficiency MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyroglutamic aciduria -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 +MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency +MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5-oxoprolinuria MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dehydrated hereditary stomatocytosis MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931292 MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym beec MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym beec +MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850321 -MONDO:0017919 exstrophy-epispadias complex skos:exactMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eec MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931654 MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wl syndrome MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 -MONDO:0017939 minicore myopathy skos:exactMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minicore myopathy +MONDO:0017939 minicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minicore myopathy MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008055 MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0301928 MONDO:0017946 ABeta amyloidosis, Iowa type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant @@ -33070,37 +29326,30 @@ MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch OMIM:605714 cerebral amyloid MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265255 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328840 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym canale-smith syndrome +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069521 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alps -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym canale-smith syndrome -MONDO:0017984 familial lambdoid synostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179300 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydromyelia +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydromyelia MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221158 MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039235 MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1631597 -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043097 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039263 +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical aortic arch -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 -MONDO:0017998 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plan -MONDO:0017998 PLA2G6-associated neurodegeneration skos:exactMatch NCIT:C25619 Plan semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plan MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fatty acid hydroxylase-associated neurodegeneration MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocythemia with distal limb defects MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inverse klippel-trénaunay syndrome @@ -33108,9 +29357,9 @@ MONDO:0018019 lead poisoning skos:exactMatch NCIT:C34761 Lead Poisoning semapv:L MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617971 MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020241 MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510437 +MONDO:0018026 tetraploidy syndrome skos:exactMatch NCIT:C28450 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057891 MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057891 -MONDO:0018026 tetraploidy syndrome skos:exactMatch NCIT:C28450 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isodicentric chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xiii deficiency MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 @@ -33119,44 +29368,27 @@ MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:Lex MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376407 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071249 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432365 -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 +MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751757 MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypersomnolence MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846142 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hoyeraal-hreidarsson syndrome -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931365 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 -MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch OMIM:605369 TMPRSS11D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hat -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272285 MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062506 -MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch NCIT:C54115 Hit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hit +MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272285 +MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580181 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044628 -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056960 MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023648 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 @@ -33169,230 +29401,179 @@ MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococ MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027249 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025294 MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931485 +MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047883 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030328 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047883 +MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030328 +MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy x MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 -MONDO:0018067 triploidy skos:exactMatch NCIT:C8324 Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 -MONDO:0018067 triploidy skos:closeMatch NCIT:C85204 Triploidy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triploidy syndrome MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 +MONDO:0018067 triploidy skos:closeMatch NCIT:C85204 Triploidy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triploidy syndrome +MONDO:0018067 triploidy skos:exactMatch NCIT:C8324 Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy +MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152095 -MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 +MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 MONDO:0018071 trisomy 18 skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards syndrome MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053884 +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C101362 Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0018075 neural tube defect skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ntd MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044755 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 +MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044755 +MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 +MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041351 -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 +MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266101 -MONDO:0018079 thymic epithelial neoplasm skos:exactMatch NCIT:C69122 Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 +MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 +MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930957 +MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0018084 Uhl anomaly skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uhl anomaly -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931371 MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019104 -MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fmf -MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever -MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016207 -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 +MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever +MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013611 MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013069 +MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 +MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931177 MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042170 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069203 -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital +MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms syndrome MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021750 -MONDO:0018100 familial primary hypomagnesemia skos:exactMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym homg +MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011005 -MONDO:0018105 Wolfram syndrome skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wfs -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 -MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency +MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 MONDO:0018106 hereditary xanthinuria skos:exactMatch OMIM:278300 xanthinuria, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 +MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014985 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 +MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274103 -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oca1-ts -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency, infantile type MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vasoproliferative tumor of the retina +MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glb1 deficiency MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085131 MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glb1 deficiency -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017205 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018048 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 -MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency +MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocerebrosidase deficiency +MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843920 MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729842 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 -MONDO:0018153 Erdheim-Chester disease skos:closeMatch OMIM:616464 ECD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ecd MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060801 -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 -MONDO:0018153 Erdheim-Chester disease skos:closeMatch OMIM:616464 ECD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecd MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878675 +MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 MONDO:0018154 Madelung deformity skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym madelung deformity MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154682 MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036704 -MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls -MONDO:0018155 lateral sclerosis skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls -MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059396 -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 -MONDO:0018160 hereditary retinoblastoma skos:exactMatch OMIM:614041 RB1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rb1 -MONDO:0018160 hereditary retinoblastoma skos:exactMatch OMIM:614041 RB1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rb1 -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 +MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 +MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956395 MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956396 MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029172 MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027974 MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549307 MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3496337 -MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian germ cell cancer -MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian germ cell cancer MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346180 +MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian germ cell cancer +MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian germ cell cancer MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856883 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017636 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018336 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018337 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 MONDO:0018177 glioblastoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025213 +MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041929 MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006563 MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021100 MONDO:0018188 genetic intestinal polyposis skos:closeMatch Orphanet:363314 Genetic intestinal polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713443 -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smaled -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal monosomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270706 -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsan1 MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502809 MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized epilepsy with febrile seizures-plus -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch OMIM:212790 premature centromere division semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch NCIT:C4685 Paraneoplastic Cerebellar Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072106 +MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration +MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch NCIT:C4685 Paraneoplastic Cerebellar Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455990 -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042033 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042033 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038325 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersensitivity syndrome, carbamazepine-induced, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stevens-johnson syndrome, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersensitivity syndrome, carbamazepine-induced, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NCIT:C3385 Erythema Multiforme Major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748918 MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013393 MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271865 -MONDO:0018246 homozygous 2p21 microdeletion syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0018246 homozygous 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0018246 homozygous 2p21 microdeletion syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739111 MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113750 MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch OMIM:113750 albinism, oculocutaneous, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin/hair/eye pigmentation type 4, fair/dark skin semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -33403,82 +29584,53 @@ MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphane MONDO:0018274 GM3 synthase deficiency skos:closeMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salt and pepper mental retardation syndrome MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609056 MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy due to dystroglycanopathy -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608840 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0018279 congenital muscular dystrophy without intellectual disability skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018279 congenital muscular dystrophy without intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018279 congenital muscular dystrophy without intellectual disability skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600040 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720830 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282488 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062908 -MONDO:0018305 chronic granulomatous disease skos:exactMatch OMIM:306400 granulomatous disease, chronic, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cgd +MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 +MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008906 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic cystic hamartoma MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334091 -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic cystic hamartoma +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aganglionic megacolon -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019569 -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3661523 -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604856 -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069698 -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3661523 MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch OMIM:604856 langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069698 MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch -MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lch -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604856 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019655 -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020141 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300910 -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615530 MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0495465 MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017653 MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1706832 -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch OMIM:615513 immunodeficiency 14a, autosomal dominant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714976 +MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301072 MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238348 MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prader-willi-like syndrome MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409979 -MONDO:0018362 persistent idiopathic facial pain skos:exactMatch OMIM:104150 AFP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afp -MONDO:0018362 persistent idiopathic facial pain skos:exactMatch OMIM:104150 AFP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label afp MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537068 MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537068 MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma @@ -33486,9 +29638,9 @@ MONDO:0018369 immature ovarian teratoma skos:closeMatch NCIT:C4286 Immature Tera MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal nebulin myopathy MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C118385 Avascular Necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2711248 +MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondritis MONDO:0018381 osteochondrosis skos:exactMatch NCIT:C118381 Apophysitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label apophysitis -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018382 epiphysiolysis of the hip skos:exactMatch NCIT:C118384 Slipped Capital Femoral Epiphysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label slipped capital femoral epiphysis MONDO:0018408 cystic echinococcosis skos:exactMatch NCIT:C122289 Echinococcus granulosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014096 @@ -33500,791 +29652,685 @@ MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221290 MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disorder-associated renal cell carcinoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fbhh -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh +MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342637 -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fbh -MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperglycerolemia MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057429 +MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperglycerolemia MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 +MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 +MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057429 MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854359 -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctns +MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystinosis, infantile nephropathic +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosin, defect of MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal cystine transport protein, defect of MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, atypical nephropathic -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:606272 CTNS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ctns -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosin, defect of -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:606272 CTNS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctns -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystinosis, infantile nephropathic -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal adysplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal agenesis MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal agenesis MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal aplasia +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal adysplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal aplasia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein e, deficiency or defect of -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-betalipoproteinemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hypercholesterolemia with hyperlipemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, severe, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia with familial hypercholesterolemic xanthomatosis -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein e, deficiency or defect of MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperbeta- and prebetalipoproteinemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia with familial hypercholesterolemic xanthomatosis MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kernicterus spectrum disorder +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0701163 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0701163 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888925 MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580190 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 +MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperthermia of anesthesia MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020844 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024591 -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the small intestine MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335690 MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch NCIT:C173813 Pancreatic Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic squamous cell carcinoma -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucinous cystadenocarcinoma of the pancreas +MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic mucinous cystadenocarcinoma -MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome -MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome MONDO:0018540 PFAPA syndrome skos:closeMatch NCIT:C128115 Marshall Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052210 MONDO:0018542 severe congenital neutropenia skos:exactMatch NCIT:C166152 Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302700 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 +MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sudanophilic cerebral sclerosis MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051260 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 -MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sudanophilic cerebral sclerosis +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 MONDO:0018544 adrenoleukodystrophy skos:narrowMatch ICD10CM:E71.528 Other X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym x-linked adrenoleukodystrophy semapv:RegularExpressionReplacement MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 +MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated congenital gonadotropin deficiency MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropic deficiency -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated congenital gonadotropin deficiency +MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067685 -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 -MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luto -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020630 +MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 MONDO:0018570 hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoethanolaminuria MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 -MONDO:0018570 hypophosphatasia skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hpp MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049933 +MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020630 MONDO:0018579 disorder of ketone body transport skos:closeMatch Orphanet:438072 Disorder of keton body transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of keton body transport MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861457 MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264342 -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931939 -MONDO:0018608 pure autonomic failure skos:exactMatch OMIM:610696 pcna-associated factor, 15-kd semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paf -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931939 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010308 -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010510 +MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010308 +MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018613 AH amyloidosis skos:exactMatch NCIT:C158962 AH Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis MONDO:0018615 hemicrania continua skos:exactMatch NCIT:C117081 Hemicrania Continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730328 -MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030528 -MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a +MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34896 Paratyphoid Fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c +MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146550 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marie unna hereditary hypotrichosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis, marie unna type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis type 4 semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypt4 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis type 4 semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146550 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018634 hereditary amyloidosis skos:closeMatch NCIT:C84555 Familial Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial amyloidosis MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206246 +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008313 MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capok MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061992 MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684275 +MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061992 MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618019 MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 -MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoblastoma MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatoblastoma MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 +MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062001 +MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoblastoma MONDO:0018667 pleural empyema skos:closeMatch NCIT:C45692 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax MONDO:0018667 pleural empyema skos:closeMatch NCIT:C34572 Empyema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label empyema -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059119 -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178805 -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067265 +MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete situs inversus MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs ambiguus -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs ambiguous MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial situs inversus -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete situs inversus +MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs ambiguous +MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067265 +MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178805 +MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059119 MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311220 MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340487 -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sporadic cjd -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917981 MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023484 -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 MONDO:0018690 Holmes-Adie syndrome skos:closeMatch OMIM:103100 adie pupil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poorly reacting pupils +MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 +MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated tracheoesophageal fistula -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch NCIT:C172209 Partially Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch OMIM:604860 MALT1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mlt -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:604667 CADPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps +MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label caps MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NCIT:C34907 Benign Mucous Membrane Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign mucous membrane pemphigoid MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057052 +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056508 MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056508 -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406650 +MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614833 MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4302263 -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmau MONDO:0018767 severe primary trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-odor syndrome -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmau MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602079 MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cold urticaria -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064570 -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fcas +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023076 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 +MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023076 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311386 -MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jeune syndrome -MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeune syndrome -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057621 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 +MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeune syndrome +MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jeune syndrome MONDO:0018771 congenital anomaly of ventricular septum skos:closeMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital anomaly of ventricular septum MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym joubert syndrome -MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert-boltshauser syndrome -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265336 +MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048786 -MONDO:0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy skos:exactMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym padmal -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618372 -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal ulceration, recurrent, with dysfunctional platelets +MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265336 MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrointestinal ulceration, recurrent, with dysfunctional platelets +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal ulceration, recurrent, with dysfunctional platelets MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phospholipase a2, group iva, deficiency of -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gurdp +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618372 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053142 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010670 MONDO:0018805 bile duct cyst skos:exactMatch NCIT:C2943 Choledochal Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choledochal cyst -MONDO:0018807 idiopathic ductopenia skos:exactMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iad MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sclerosing cholangitis, neonatal -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsc MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing cholangitis, neonatal MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 +MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037635 -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1695985 MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065580 -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch OMIM:617397 pseudo-torch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptorch2 -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 +MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1695985 MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label usp18 deficiency +MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048911 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048911 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065857 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 +MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065375 MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 -MONDO:0018846 penile agenesis skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis +MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C123249 Idiopathic Retroperitoneal Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic retroperitoneal fibrosis +MONDO:0018846 penile agenesis skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis +MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 +MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C123249 Idiopathic Retroperitoneal Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic retroperitoneal fibrosis +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 +MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:110500 blood group, diego system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym di MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilar cyst -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 +MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 MONDO:0018852 achromatopsia skos:exactMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pingelapese blindness -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:604093 keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpa +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch NCIT:C124070 Keratosis Pilaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis pilaris -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059547 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 +MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059547 MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398367 -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cree encephalitis +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metachromatic leukodystrophy -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mld -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023522 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 2 semapv:RegularExpressionReplacement -MONDO:0018870 arterial calcification of infancy skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 +MONDO:0018870 arterial calcification of infancy skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000890 MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023462 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023467 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000880 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute myeloid MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023467 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label li-fraumeni syndrome +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbla syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085390 +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label li-fraumeni syndrome MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085390 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 MONDO:0018877 retinitis punctata albescens skos:exactMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis punctata albescens MONDO:0018878 branchiootic syndrome skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootic dysplasia MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 -MONDO:0018879 lichen planopilaris skos:exactMatch OMIM:600700 LPP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lpp -MONDO:0018879 lichen planopilaris skos:exactMatch OMIM:600700 LPP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lpp -MONDO:0018879 lichen planopilaris skos:exactMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lpp MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 -MONDO:0018881 myelodysplastic syndrome skos:exactMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mds -MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10CM:D46.Z Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement -MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10WHO:D46.7 Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614286 +MONDO:0018881 myelodysplastic syndrome skos:closeMatch OMIM:614286 myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelodysplastic syndrome, susceptibility to +MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463824 +MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614286 +MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10WHO:D46.7 Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement +MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10CM:D46.Z Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 -MONDO:0018881 myelodysplastic syndrome skos:closeMatch OMIM:614286 myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelodysplastic syndrome, susceptibility to -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic vasculitis +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042384 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic vasculitis MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024603 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch OMIM:618627 GMCL1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gcl +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lawrence-seip syndrome -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059364 -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048661 -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068841 +MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346068 -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 +MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068841 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040664 +MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043648 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034155 -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ttp -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302772 MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051708 -MONDO:0018899 posterior cortical atrophy skos:exactMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pca -MONDO:0018899 posterior cortical atrophy skos:exactMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pca MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960469 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206669 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036231 -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 +MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 +MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 +MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 +MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036231 MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranoproliferative glomerulonephritis +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018370 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 +MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012818 -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024301 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 +MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024301 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010276 -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 -MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 +MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078918 MONDO:0018910 oculocutaneous albinism skos:narrowMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym oculocutaneous albinism semapv:RegularExpressionReplacement -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342276 MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606391 +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342276 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011652 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 +MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement +MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020610 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020562 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020564 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011652 -MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 -MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary hypotrichosis simplex -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 +MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 +MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007426 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016065 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:exactMatch OMIM:165180 MAS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mas -MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0269972 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripartum cardiomyopathy +MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0269972 +MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265215 -MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckel-gruber syndrome MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meckel syndrome -MONDO:0018922 cold agglutinin disease skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cad -MONDO:0018922 cold agglutinin disease skos:exactMatch OMIM:602941 BCAR1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas -MONDO:0018922 cold agglutinin disease skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cad +MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012979 +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066430 -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cayler cardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012979 -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vcfs -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome MONDO:0018924 microphthalmia, Lenz type skos:closeMatch OMIM:309800 microphthalmia, syndromic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz dysplasia -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch OMIM:309800 microphthalmia, syndromic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops1 -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141500 -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609634 MONDO:0018926 human prion disease skos:exactMatch NCIT:C128346 Transmissible Spongiform Encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transmissible spongiform encephalopathy MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262087 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 +MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262087 +MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 Monosomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy type 21 semapv:RegularExpressionReplacement -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 Monosomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023443 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019053 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic hairy cell leukemia MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004430 -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 +MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004430 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029417 +MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiia +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym naglu deficiency MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome b -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym naglu deficiency -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiib +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iva +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028095 -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751882 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751882 MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931766 -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931639 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 +MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931639 MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678065 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061988 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061988 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclds -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod phenotype -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod syndrome with chronic granulomatous disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod syndrome with chronic granulomatous disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod phenotype MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866130 -MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement +MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175709 -MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 minicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore myopathy -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 +MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiminicore myopathy +MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 +MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore myopathy MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmd -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mmd -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751336 MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268600 -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord and pharyngeal distal myopathy MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003094 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 -MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks +MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2697932 -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168198 +MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339985 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206157 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 -MONDO:0018958 nemaline myopathy skos:exactMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nm -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, atypical +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, potassium-aggravated MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia, potassium-aggravated -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngospasm, severe neonatal episodic MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, acetazolamide-responsive -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia fluctuans +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngospasm, severe neonatal episodic +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NCIT:C122789 Myotonia Fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, atypical +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens -MONDO:0018959 potassium-aggravated myotonia skos:exactMatch OMIM:170270 PAM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pam -MONDO:0018959 potassium-aggravated myotonia skos:exactMatch OMIM:170270 PAM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pam -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NCIT:C122789 Myotonia Fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018961 familial melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272087 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022034 MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152234 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152426 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011321 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 +MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057056 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112570 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome semapv:RegularExpressionReplacement MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027831 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch OMIM:613113 NF1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nf1 -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch OMIM:613113 NF1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:162200 neurofibromatosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1736154 +MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393847 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392060 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029307 -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0405469 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 +MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0405469 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ice syndrome +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 MONDO:0018989 recurrent acute pancreatitis skos:exactMatch NCIT:C184324 Recurrent Acute Pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent acute pancreatitis MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039142 MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmtx -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606002 -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scar1 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606002 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 -MONDO:0018998 Leber congenital amaurosis skos:exactMatch OMIM:118960 CLTA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lca MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339527 -MONDO:0018998 Leber congenital amaurosis skos:exactMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lca +MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018999 LCAT deficiency skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lcat deficiency MONDO:0019000 perineural cyst skos:exactMatch NCIT:C4797 Perineural Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst -MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028191 MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029145 -MONDO:0019004 kidney Wilms tumor skos:exactMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephroblastoma MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027708 +MONDO:0019004 kidney Wilms tumor skos:exactMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephroblastoma MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0687120 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868672 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256370 MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046879 MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149841 MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch NCIT:C84402 Benign Recurrent Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis +MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch NCIT:C131425 Congenital Hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hyperinsulinism MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275078 -MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpenter syndrome MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpenter syndrome +MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpenter syndrome +MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275078 MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795690 MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030308 MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739395 @@ -34294,23 +30340,18 @@ MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle bone disorder semapv:RegularExpressionReplacement -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1136033 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 +MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1136033 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036221 -MONDO:0019024 mast cell sarcoma skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs +MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272202 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 -MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sod -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263417 MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536003 @@ -34318,334 +30359,279 @@ MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334489 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 -MONDO:0019035 pancreatoblastoma skos:closeMatch OMIM:142702 HTN3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pb -MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036813 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036813 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024381 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023520 +MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024381 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy +MONDO:0019050 inherited hemoglobinopathy skos:narrowMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemoglobinopathies semapv:RegularExpressionReplacement MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060892 MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy -MONDO:0019050 inherited hemoglobinopathy skos:narrowMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemoglobinopathies semapv:RegularExpressionReplacement -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058097 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025521 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062018 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rare metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025521 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282528 -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 +MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029323 MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone tumor MONDO:0019063 vascular anomaly skos:closeMatch Orphanet:68419 Vascular anomaly or angioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular anomaly or angioma MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019903 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 -MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 -MONDO:0019065 amyloidosis skos:exactMatch NCIT:C117187 Amyloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyloid +MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 -MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 +MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:exactMatch NCIT:C117187 Amyloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyloid MONDO:0019072 intrahepatic cholestasis skos:exactMatch NCIT:C84400 Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectatic membranoproliferative glomerulonephritis -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hltrs +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulonephritis with sparse hair and telangiectases -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bosley-salih-alorainy syndrome -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068856 +MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 +MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3c syndrome MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia +MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3c syndrome MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796137 MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263504 MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001766 -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030805 -MONDO:0019082 bullous pemphigoid skos:closeMatch NCIT:C34908 Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 -MONDO:0019083 Leigh syndrome with cardiomyopathy skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0019083 Leigh syndrome with cardiomyopathy skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0019083 Leigh syndrome with cardiomyopathy skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0019083 Leigh syndrome with cardiomyopathy skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 +MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 +MONDO:0019082 bullous pemphigoid skos:closeMatch NCIT:C34908 Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037766 MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022577 +MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152018 -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030155 MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal cancer -MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 +MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030155 MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206698 -MONDO:0019087 cholangiocarcinoma skos:exactMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cca -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051358 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006287 +MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006287 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032064 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061416 -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242584 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032064 MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050245 -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 +MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242584 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029322 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027873 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 +MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 -MONDO:0019104 Sandifer syndrome skos:closeMatch NCIT:C113397 Sandifer's Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandifers syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066142 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 +MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 +MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066142 +MONDO:0019104 Sandifer syndrome skos:closeMatch NCIT:C113397 Sandifer's Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandifers syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 +MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 -MONDO:0019105 renal nutcracker syndrome skos:exactMatch OMIM:259775 raine syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rns MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849387 -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272052 +MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 MONDO:0019107 Rh deficiency syndrome skos:closeMatch OMIM:268150 rh-null, regulator iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rh-mod -MONDO:0019107 Rh deficiency syndrome skos:closeMatch OMIM:268150 rh-null, regulator iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhnr MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3698095 MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931684 MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537980 MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537980 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267131 MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072376 +MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267131 MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc4r deficiency -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854723 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038857 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 -MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C124358 Pneumocystis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumocystis +MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535939 -MONDO:0019121 pneumocystosis skos:exactMatch OMIM:176785 PRCP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcp +MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C124358 Pneumocystis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumocystis MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038304 +MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032453 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 -MONDO:0019127 polymyositis skos:exactMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pm +MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038304 +MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036102 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 +MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206719 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061418 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949506 MONDO:0019141 porokeratosis of Mibelli skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porokeratosis of mibelli MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 +MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061356 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036181 -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069517 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 +MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein s deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein c deficiency MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3266863 -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 +MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027030 -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053687 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 -MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 +MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019150 familial isolated restrictive cardiomyopathy skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 -MONDO:0019150 familial isolated restrictive cardiomyopathy skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 -MONDO:0019150 familial isolated restrictive cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039585 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhtr deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym androgen receptor deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300068 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024406 MONDO:0019155 Leydig cell hypoplasia skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch OMIM:107820 RARS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rars MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052841 MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268436 -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperkalemic hypertension -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome +MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449844 MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome -MONDO:0019165 central precocious puberty skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cpp -MONDO:0019165 central precocious puberty skos:exactMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cpp +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome +MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0019165 central precocious puberty skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342543 MONDO:0019165 central precocious puberty skos:exactMatch NCIT:C113217 Gonadotropin-Dependent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-dependent precocious puberty -MONDO:0019167 immunoglobulin a vasculitis skos:exactMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsp MONDO:0019167 immunoglobulin a vasculitis skos:closeMatch NCIT:C35499 Vascular Purpura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular purpura -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704275 +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041188 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704275 -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036024 -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 -MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome -MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ward-romano syndrome -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 +MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 +MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ward-romano syndrome +MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035828 MONDO:0019172 aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003076 -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 +MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037742 -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711390 -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019883 MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039445 -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hht -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019883 MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 MONDO:0019182 inherited obesity skos:exactMatch NCIT:C120382 Monogenic Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic obesity +MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037731 +MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495488 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059255 -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad thumb-hallux syndrome -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein syndrome -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 +MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035934 +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039281 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad thumb-hallux syndrome +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein syndrome MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid and other organic acid metabolism -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0019190 juvenile polyposis of infancy skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile polyposis of infancy -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026103 MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271693 -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch OMIM:605637 myopathy, proximal, with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary inclusion body myopathy type 3 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 +MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038914 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268446 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043788 -MONDO:0019202 myxofibrosarcoma skos:closeMatch OMIM:154700 marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfs -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfs +MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268446 MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066948 -MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aip -MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aip -MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:605555 AIP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aip +MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066728 -MONDO:0019203 acute interstitial pneumonia skos:exactMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aip MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066393 MONDO:0019206 sparse hair-short stature-skin anomalies syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sparse hair-short stature-skin anomalies syndrome MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853564 MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960543 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014057 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014057 MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007129 -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch OMIM:159350 MCC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcc -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch OMIM:159350 MCC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcc MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061023 MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of carbohydrate metabolism -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid absorption and transport MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268641 +MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid absorption and transport MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of bile acid synthesis MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of neurotransmitter metabolism and transport MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of cobalamin metabolism and transport @@ -34658,149 +30644,137 @@ MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:7 MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of ornithine or proline metabolism MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pentose phosphate metabolism MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of peptide metabolism -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroxisome biogenesis disorder +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroxisome biogenesis disorder MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of phenylalanin or tyrosine metabolism -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine metabolism +MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 +MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyridoxine metabolism MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070969 -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyrimidine metabolism MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 +MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyrimidine metabolism MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of serine or glycine metabolism MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of the gamma-glutamyl cycle MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268517 MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342712 MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of energy metabolism MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of lysosomal amino acid transport -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026703 +MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 +MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement +MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026703 +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of biogenic amine metabolism and transport -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034139 -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine or pyrimidine metabolism MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine or pyrimidine metabolism +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034139 +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037899 +MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10WHO:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 -MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10WHO:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement +MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037899 MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 -MONDO:0019257 hemochromatosis type 2 skos:exactMatch OMIM:608374 HJV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hfe2 -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751434 +MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022797 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kufs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052073 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052073 MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015289 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263859 MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051316 +MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263859 MONDO:0019266 SAPHO syndrome skos:closeMatch NCIT:C84530 Acquired Hyperostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired hyperostosis syndrome MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020757 +MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 +MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015280 -MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020864 +MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis +MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement -MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020864 MONDO:0019281 isolated genetic hair shaft abnormality skos:closeMatch Orphanet:79366 Isolated hair shaft abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hair shaft abnormality MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028684 MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated nail anomaly MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010452 -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin pigmentation disorder MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040868 -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162819 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 +MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 +MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290008 +MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063493 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym junctional epidermolysis bullosa inversa MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-i -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 +MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0019311 woolly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343114 MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071775 MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024901 MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012812 -MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 +MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024901 MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042111 +MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 +MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473574 MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0362030 MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263316 MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057053 MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263312 MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058917 -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263313 +MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary lymphangioma -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner syndrome -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gardner syndrome -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039486 -MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boeck sarcoid +MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis +MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boeck sarcoid MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 @@ -34808,228 +30782,208 @@ MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv: MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039710 MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nanocephalic dwarfism MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bird-headed dwarfism -MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sckl MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seckel-type dwarfism MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265202 -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609059 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 +MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609059 +MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 -MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017915 +MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 +MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label shigellosis -MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement +MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019346 sialidosis type 1 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomucopolysaccharidosis MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 -MONDO:0019347 peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pss -MONDO:0019347 peeling skin syndrome skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pss MONDO:0019347 peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deciduous skin -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral gigantism -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral gigantism +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 +MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037889 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041524 -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271093 -MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855465 -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 MONDO:0019353 Stargardt disease skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fundus flavimaculatus +MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271093 +MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063402 MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265253 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085253 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085253 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058493 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cervical spinal stenosis -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 +MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035793 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039137 MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035597 MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014979 -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036472 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 +MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 +MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931872 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 +MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 -MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064332 -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0458219 -MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reflex sympathetic dystrophy +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064332 MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy +MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reflex sympathetic dystrophy MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy -MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10CM:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10WHO:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 +MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10CM:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0281508 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064581 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847114 +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606937 +MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847114 +MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014584 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014053 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014584 MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153064 MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014614 MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014059 -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052369 MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014040 +MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052369 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393639 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto encephalitis MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubella panencephalitis MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717757 +MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 +MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015625 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconi anemia MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi anemia MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406803 MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042926 -MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch OMIM:601510 SCAP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scap -MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch OMIM:601510 SCAP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scap MONDO:0019395 Hinman syndrome skos:exactMatch NCIT:C123206 Non-Neurogenic Neurogenic Bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-neurogenic neurogenic bladder MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751919 -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement MONDO:0019399 Isaac syndrome skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 +MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 +MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002876 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch OMIM:123920 CDA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch OMIM:123920 CDA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cda -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch OMIM:607541 corneal dystrophy, avellino iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002876 +MONDO:0019404 perineurioma skos:closeMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft tissue perineurioma MONDO:0019404 perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft tissue perineurioma MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751691 -MONDO:0019404 perineurioma skos:closeMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft tissue perineurioma MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618150 MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300228 -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis, juvenile MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, juvenile +MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis, juvenile MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615221 MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259750 MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502469 -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 +MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931171 -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C61278 Still Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label still disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NCIT:C119031 Systemic Juvenile Idiopathic Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C61278 Still Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label still disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NCIT:C119024 Enthesitis-Related Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enthesitis-related arthritis -MONDO:0019438 AL amyloidosis skos:exactMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis +MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 +MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis -MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 +MONDO:0019438 AL amyloidosis skos:exactMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis +MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039811 MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221014 -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dtga MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044608 MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 +MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044608 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044611 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 +MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044611 +MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch OMIM:604856 langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lch +MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023481 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796466 MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067959 +MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796466 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038270 +MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 +MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038270 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334674 MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000879 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myeloid leukaemia with myelodysplasia-related features MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292773 +MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch OMIM:612065 PARP9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bal -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NCIT:C82179 Mixed Phenotype Acute Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301357 -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NCIT:C82179 Mixed Phenotype Acute Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 +MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062113 MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349632 +MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018852 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019350 -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029460 -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025325 -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023494 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042985 -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065862 +MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 +MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028811 MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 @@ -35037,131 +30991,112 @@ MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adul MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392788 MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065855 -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0456889 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C150495 Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066957 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333984 +MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066957 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphoma, subcutaneous panniculitis-like -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphoma, subcutaneous panniculitis-like -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 +MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334663 MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054752 MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054752 MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260327 -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115080 MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary bundle branch defect -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial progressive cardiac conduction defect +MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003650 MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206754 -MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated genetic deafness MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-syndromic genetic deafness -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0277356 +MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated genetic deafness MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 +MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0277356 +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 +MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bonnevie-ullrich syndrome MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C85210 XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome -MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bonnevie-ullrich syndrome -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 +MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 -MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa-deafness syndrome +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 -MONDO:0019503 anterior segment dysgenesis skos:exactMatch Orphanet:618899 Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asmd +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 +MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome +MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa-deafness syndrome MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior segment ocular dysgenesis MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339229 -MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch OMIM:616563 SLK semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label slk -MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch OMIM:616563 SLK semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slk -MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4h syndrome -MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 +MONDO:0019508 van der Woude syndrome skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604547 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175697 -MONDO:0019508 van der Woude syndrome skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital non-syndromic heart malformation MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch NCIT:C8301 Veno-Occlusive Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label veno-occlusive disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019156 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047216 +MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 +MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch NCIT:C8301 Veno-Occlusive Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label veno-occlusive disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019516 exudative vitreoretinopathy skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2700265 MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 -MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ws2 -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ws4 +MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2700265 MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg-shah syndrome -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shah-waardenburg syndrome MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg-shah syndrome -MONDO:0019524 infantile Bartter syndrome with sensorineural deafness skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome with sensorineural deafness -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 +MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shah-waardenburg syndrome MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 +MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071575 MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409999 -MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 MONDO:0019530 non-syndromic syndactyly skos:closeMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly +MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 +MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to glutathione reductase deficiency +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618660 -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to glutathione reductase deficiency -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272118 +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warm antibody autoimmune hemolytic anemia -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055019 MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272080 -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0541719 -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome +MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055019 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053885 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2242785 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0541719 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 @@ -35170,146 +31105,114 @@ MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orp MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panniculitis-induced localized lipodystrophy MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025141 MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024145 -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013072 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 +MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406636 +MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030327 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030327 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036420 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 +MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 +MONDO:0019563 CREST syndrome skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crest syndrome MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limited cutaneous systemic scleroderma -MONDO:0019563 CREST syndrome skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 -MONDO:0019563 CREST syndrome skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 -MONDO:0019563 CREST syndrome skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crest syndrome -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047715 MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042974 +MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047715 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130000 -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751039 +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch NCIT:C135725 Cockayne Syndrome Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cockayne syndrome type a MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch OMIM:216400 Cockayne syndrome a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csa +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch NCIT:C135725 Cockayne Syndrome Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cockayne syndrome type a MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch OMIM:133540 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csb -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751039 MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751038 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268350 -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl1 -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:exactMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2 -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263402 +MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 +MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406660 -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated neurosensory deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory deafness type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked non-syndromic sensorineural deafness type dfn +MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn +MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated neurosensory deafness type dfn +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant non-syndromic sensorineural deafness type dfna MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory deafness type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural deafness type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant non-syndromic sensorineural deafness type dfna +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive non-syndromic sensorineural deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated neurosensory deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated neurosensory deafness type dfnb MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:603324 GJB3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 +MONDO:0019591 panhypopituitarism skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panhypopituitarism MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033662 MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242343 -MONDO:0019591 panhypopituitarism skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panhypopituitarism -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043346 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048220 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NCIT:C13565 Xp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xp +MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043459 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 MONDO:0019609 Zellweger spectrum disorders skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019609 Zellweger spectrum disorders skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zs -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017852 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043515 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346303 MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346304 MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242342 MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036297 -MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cpi MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290344 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019860 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019243 +MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic medial necrosis of aorta +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392775 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic medial necrosis of aorta -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059198 -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch NCIT:C161554 Persistent Hyperplastic Primary Vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 +MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch NCIT:C161554 Persistent Hyperplastic Primary Vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous +MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 MONDO:0019632 Lyme disease skos:exactMatch NCIT:C86206 Borrelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label borrelia +MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 +MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038300 +MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0859976 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036669 -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266294 MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053624 MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049102 @@ -35319,33 +31222,25 @@ MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch OMIM:277440 vi MONDO:0019645 renal dysplasia, bilateral skos:exactMatch NCIT:C101313 Bilateral Renal Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bilateral renal dysplasia MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001079 MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066122 -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016064 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 +MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia and premature pubarche -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcym4 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612847 +MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058902 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 MONDO:0019669 hypochondrogenesis skos:exactMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondrogenesis -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887487 MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym semdjl1 MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, beighton type -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym semdjl1 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semdjl MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300267 MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliopathies with major skeletal involvement -MONDO:0019691 short rib dysplasia skos:exactMatch OMIM:605902 UCN2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym srp +MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432238 MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label campomelic dysplasia and related disorders MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 @@ -35355,107 +31250,63 @@ MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 N MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968949 MONDO:0019729 light and heavy chain deposition disease skos:exactMatch NCIT:C158965 Light and Heavy Chain Deposition Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238239 -MONDO:0019730 light chain deposition disease skos:exactMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcdd MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068240 -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527406 +MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymyalgia rheumatica MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polymyalgia rheumatica -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268743 -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043645 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717961 MONDO:0019737 thrombotic microangiopathy skos:narrowMatch ICD10CM:M31.19 Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombotic microangiopathy semapv:RegularExpressionReplacement -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 +MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2584778 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857389 MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267073 MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072220 MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unicentric castleman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019754 multicentric Castleman disease skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 -MONDO:0019754 multicentric Castleman disease skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0019754 multicentric Castleman disease skos:exactMatch OMIM:606761 MLYCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0019754 multicentric Castleman disease skos:exactMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:377789 Malformation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malformation syndrome -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019758 midline interhemispheric variant of holoprosencephaly skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015088 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014588 +MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019760 terminal transverse defects of arm skos:exactMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal transverse defects of arm -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393607 MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008538 MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008538 MONDO:0019773 myelomeningocele skos:exactMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelomeningocele -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002654 -MONDO:0019780 anotia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 +MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 +MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 +MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017609 MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341305 MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning paraganglioma -MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch OMIM:606988 CHP1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chp MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406594 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 +MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027849 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 -MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch OMIM:619337 NMS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nms -MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch OMIM:619337 NMS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nms MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206500 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria -MONDO:0019796 acrocephalosyndactyly skos:exactMatch OMIM:605832 ACSS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acs -MONDO:0019796 acrocephalosyndactyly skos:exactMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acs -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 +MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151467 MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010654 MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058328 @@ -35464,46 +31315,28 @@ MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066801 MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 +MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis spectrum MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044223 -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ten -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NCIT:C69122 Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010656 MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired premature ovarian failure MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired premature ovarian failure -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0019861 thyroid hypoplasia skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid hypoplasia MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065938 -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071015 -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053916 +MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 8 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 +MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 +MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053916 MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536796 -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 22 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 22 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536796 MONDO:0019871 distal trisomy 2p skos:exactMatch NCIT:C185241 Distal Trisomy 2p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal trisomy type 2p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019871 distal trisomy 2p skos:exactMatch NCIT:C185241 Distal Trisomy 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal trisomy type 2p semapv:RegularExpressionReplacement @@ -35511,31 +31344,30 @@ MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal trisomy 1 MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal trisomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538087 MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal trisomy 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538294 MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal trisomy 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538294 -MONDO:0019891 monosomy 22 skos:exactMatch NCIT:C36461 Monosomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019891 monosomy 22 skos:exactMatch NCIT:C36461 Monosomy 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy type 22 semapv:RegularExpressionReplacement +MONDO:0019891 monosomy 22 skos:exactMatch NCIT:C36461 Monosomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 9 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265444 +MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 MONDO:0019907 ring chromosome 13 skos:closeMatch NCIT:C179703 Ring Chromosome 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 16 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbcs +MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mulchandani-bhoj-conlin syndrome MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mulchandani-bhoj-conlin syndrome @@ -35544,120 +31376,111 @@ MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265498 MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048228 MONDO:0019928 48,XXXY syndrome skos:closeMatch NCIT:C89799 XXXY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxxy syndrome -MONDO:0019929 49,XXXXY syndrome skos:exactMatch NCIT:C185635 49,XXXXY Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265499 -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001206 +MONDO:0019929 49,XXXXY syndrome skos:exactMatch NCIT:C185635 49,XXXXY Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 -MONDO:0019933 acromegaly skos:closeMatch NCIT:C112834 Growth Hormone Excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone excess +MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001206 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000599 +MONDO:0019933 acromegaly skos:closeMatch NCIT:C112834 Growth Hormone Excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone excess MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019934 polyploidy skos:exactMatch NCIT:C3338 Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 +MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058554 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013743 MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263610 MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041307 -MONDO:0019946 ligneous conjunctivitis skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 MONDO:0019946 ligneous conjunctivitis skos:exactMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ligneous conjunctivitis MONDO:0019947 rippling muscle disease 2 skos:closeMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb-girdle muscular dystrophy type 1c MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606072 -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600332 -MONDO:0019947 rippling muscle disease 2 skos:exactMatch OMIM:611872 RMDN2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rmd2 MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270969 -MONDO:0019950 congenital muscular dystrophy skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699743 MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 -MONDO:0019951 rigid spine syndrome skos:exactMatch OMIM:602771 rigid spine muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rigid spine syndrome -MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement -MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement +MONDO:0019951 rigid spine syndrome skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rigid spine syndrome MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062547 +MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement +MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of pancreas MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014581 -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 +MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018404 +MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cholera -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome MONDO:0019960 VIPoma skos:closeMatch NCIT:C3488 WDHA Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wdha syndrome +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cholera MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchial neuroendocrine tumor MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064242 MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063585 MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029400 -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 -MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal face syndrome +MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal face syndrome MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch NCIT:C96182 Fibrillary Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrillary glomerulonephritis MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch NCIT:C158968 Immunotactoid Glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037126 -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0597039 -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 MONDO:0020040 46,XY disorder of sex development skos:closeMatch NCIT:C86031 XY Female semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xy female -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 -MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement +MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014316 +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 +MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement MONDO:0020067 infectious encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis +MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0020075 genetic non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym monogenic obesity due to a leptin-melanocortin pathway anomaly -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292778 MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028576 -MONDO:0020076 myeloproliferative neoplasm skos:exactMatch OMIM:603236 MVD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpd -MONDO:0020076 myeloproliferative neoplasm skos:exactMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmpd +MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292778 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020082 dendritic cell tumor skos:closeMatch NCIT:C27260 Dendritic Cell Tumor, Not Otherwise Specified semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dendritic cell tumor, not otherwise specified MONDO:0020084 lymphoproliferative disease associated with primary immune disease skos:exactMatch NCIT:C150673 Lymphoproliferative Disease Associated with Primary Immune Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative disorder associated with primary immune disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271694 +MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049287 MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877192 MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262483 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 +MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 +MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, autoimmune hemolytic -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aha -MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement -MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037322 MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038184 @@ -35666,23 +31489,22 @@ MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary po MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036062 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 +MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 +MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068836 MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270984 -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751950 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 +MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751950 MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028003 MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 -MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch MONDO:0020144 cerebrovascular dementia skos:closeMatch Orphanet:98549 Rare cerebrovascular dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare cerebrovascular dementia MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315777 MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038457 @@ -35690,134 +31512,106 @@ MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Heredit MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338508 MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046851 +MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 +MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym avsd -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:616464 ECD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecd -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocardial cushion defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular canal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:616464 ECD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ecd MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular canal defect -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064962 +MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050053 MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061080 MONDO:0020294 atrial defect and interatrial communication skos:closeMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare atrial defect and interatrial communication -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003226 MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 +MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696898 -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffevf MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023480 -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023480 MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7463 Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045516 MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280141 MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856823 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023464 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch NCIT:C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary mediastinal (thymic) large b-cell lymphoma MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036710 +MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch NCIT:C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary mediastinal (thymic) large b-cell lymphoma MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292754 MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069643 -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 +MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 +MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 MONDO:0020326 lymphomatoid papulosis skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lyp -MONDO:0020326 lymphomatoid papulosis skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056452 MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272203 +MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056452 MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056453 MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112486 -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023461 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056450 -MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast cell leukemia +MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast cell leukemia +MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast cell leukemia MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym edmd2 -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym edmd2 +MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 MONDO:0020338 adult pure red cell aplasia skos:closeMatch NCIT:C70548 Acquired Pure Red Cell Aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired pure red cell aplasia -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868720 -MONDO:0020342 congenital myopathy with excess of thin filaments skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0020342 congenital myopathy with excess of thin filaments skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0020342 congenital myopathy with excess of thin filaments skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0020342 congenital myopathy with excess of thin filaments skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0020342 congenital myopathy with excess of thin filaments skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postsynaptic congenital myasthenic syndromes MONDO:0020345 presynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label presynaptic congenital myasthenic syndromes MONDO:0020346 synaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synaptic congenital myasthenic syndromes MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052642 MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521573 MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym posterior polymorphous corneal dystrophy -MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmus +MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmia +MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmus MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma MONDO:0020366 congenital glaucoma skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary congenital glaucoma -MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary congenital glaucoma -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2981140 MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064032 -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 +MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2981140 MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058653 -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0544008 +MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168173 MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059200 MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007759 MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057735 -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 +MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007759 MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 MONDO:0020381 patterned macular dystrophy skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium -MONDO:0020381 patterned macular dystrophy skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 -MONDO:0020381 patterned macular dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 -MONDO:0020384 Niemann-Pick disease type E skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165203 MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868705 MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066802 @@ -35825,15 +31619,14 @@ MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267073 MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral pulmonary stenosis MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectasia of the left atrial appendage -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031303 MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031302 +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031303 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 -MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pavc MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial atrioventricular septal defect +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521533 MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619199 @@ -35841,219 +31634,171 @@ MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstabl MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069495 MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272362 MONDO:0020466 monosomy X skos:exactMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018265 -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 MONDO:0020479 pituitary gigantism skos:closeMatch NCIT:C93046 Gigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantism -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 +MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 +MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018265 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch NCIT:C129076 Molybdenum Cofactor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency -MONDO:0020481 myotonia fluctuans skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 +MONDO:0020481 myotonia fluctuans skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans MONDO:0020482 myotonia permanens skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia permanens -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619542 -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343528 +MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-hydroxylase deficiency MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-oxidase deficiency MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NCIT:C126813 Aldosterone Synthase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aldosterone synthase deficiency -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 9 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double cortex syndrome MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band heterotopia +MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subcortical band heterotopia MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label band heterotopia -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double cortex syndrome MONDO:0020492 hemimegalencephaly skos:exactMatch NCIT:C177779 Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431391 -MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haddad syndrome -MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym haddad syndrome MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750325 +MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym haddad syndrome +MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haddad syndrome MONDO:0020494 oculootodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculootodental syndrome +MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750325 MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617507 -MONDO:0020495 PEHO-like syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pehol -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026822 MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024788 MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019099 -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043395 -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048240 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 +MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048240 +MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043395 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 -MONDO:0020506 ovarioleukodystrophy skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847967 MONDO:0020506 ovarioleukodystrophy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarioleukodystrophy +MONDO:0020506 ovarioleukodystrophy skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847967 MONDO:0020507 Cree leukoencephalopathy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cree leukoencephalopathy -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334517 +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatocytic seminoma MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatocytic seminoma +MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334517 MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thymic neuroendocrine carcinoma -MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsarth2 MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020523 familial parathyroid adenoma skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 -MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus -MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tndm MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient neonatal diabetes mellitus -MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tndm +MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930924 -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 -MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609576 ACADL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcad +MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant dysgerminomatous germ cell tumor of the ovary -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018413 +MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maligant granulosa cell tumor of the ovary -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant sertoli-leydig cell tumor of the ovary -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant sertoli-leydig cell tumor of the ovary MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343532 +MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044250 -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066260 -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 +MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066261 +MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067776 MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008493 MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349557 +MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 -MONDO:0020552 placental site trophoblastic tumor skos:exactMatch OMIM:601825 NDUFS7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psst -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch OMIM:607831 charcot-marie-tooth disease, axonal, iia 2k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2k -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069682 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2721741 -MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym at/rt MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdoid tumor predisposition syndrome -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdoid tumor predisposition syndrome -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0020562 pleomorphic liposarcoma skos:exactMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls -MONDO:0020562 pleomorphic liposarcoma skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls +MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym at/rt MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205825 -MONDO:0020562 pleomorphic liposarcoma skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pls MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205824 MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027031 -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064335 MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007462 +MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064335 MONDO:0020573 inherited disease susceptibility skos:closeMatch NCIT:C17939 Genetic Susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic susceptibility MONDO:0020583 chromosome 17 disorder skos:closeMatch NCIT:C129438 Chromosome 17 Abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17 abnormality semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020598 malabsorption syndrome skos:exactMatch NCIT:C113483 Malabsorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malabsorption -MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sgbs1 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302960 -MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lidls1 -MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism -MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 +MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome +MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism MONDO:0020607 Liddle syndrome 1 skos:closeMatch NCIT:C84827 Liddle Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618097 -MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgrisce2 MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617829 MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 MONDO:0020639 monosomy skos:exactMatch NCIT:C3239 Monosomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy -MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoimmune encephalitis +MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch NCIT:C129732 Autosomal Dominant Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant osteopetrosis -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abs2 +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures MONDO:0020680 acute bronchiolitis skos:closeMatch NCIT:C39659 Acute Bronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute bronchiolitis -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc1 -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edspd1 +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type -MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C2864 AIDS Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids dementia +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C3715 AIDS Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids encephalopathy +MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C2864 AIDS Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids dementia MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo1 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysplasia -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0020701 brachydactyly type A1A skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly -MONDO:0020701 brachydactyly type A1A skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bda1 -MONDO:0020701 brachydactyly type A1A skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis MONDO:0020704 inherited rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntd -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch NCIT:C101214 Spina Bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 -MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fas -MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch OMIM:134637 FAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fas -MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch OMIM:134637 FAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fas -MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400044 MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -36062,132 +31807,109 @@ MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch Orphanet:31837 P MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146500 MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 MONDO:0020717 autosomal dominant woolly hair skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194300 -MONDO:0020717 autosomal dominant woolly hair skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adwh MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615237 -MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets +MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3540852 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hereditary sideroblastic MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, x-linked -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sidba1 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hereditary sideroblastic +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caon MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vddr1a MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha, type 25-hydroxyvitamin d3 deficiency, selective semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxycholecalciferol-1-hydroxylase deficiency -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccm -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0020725 anemia due to chronic disorder skos:closeMatch NCIT:C35659 Anemia due to Chronic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia due to chronic disorder -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd22 MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616045 -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhuc1 +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220150 MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect -MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cts +MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection -MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria -MONDO:0020732 progeria skos:exactMatch NCIT:C34951 Progeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria -MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 MONDO:0020732 progeria skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym1a +MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 +MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria +MONDO:0020732 progeria skos:exactMatch NCIT:C34951 Progeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing symphalangism +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym1 -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aimah1 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to aimah MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219080 +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to aimah +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair syndrome MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uhs1 MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair syndrome -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair syndrome -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 10 with or without ataxia, mental retardation, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616732 -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cscsc1 +MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143880 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210250 MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618666 @@ -36202,77 +31924,61 @@ MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141500 MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600131 MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:closeMatch OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia -MONDO:0020763 Menke-Hennekam syndrome 1 skos:closeMatch OMIM:618332 menke-hennekam syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkhk1 -MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch OMIM:602857 CHN2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chn2 -MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch OMIM:602857 CHN2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chn2 MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618184 MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618186 MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:closeMatch NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cauda equina syndrome with neurogenic bladder MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:closeMatch NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cauda equina syndrome with neurogenic bladder -MONDO:0020769 Menke-Hennekam syndrome 2 skos:closeMatch OMIM:618333 menke-hennekam syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkhk2 MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scan3 -MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch NCIT:C17999 Scan semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scan MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607631 MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea +MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation with defective fucosylation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf -MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf1 -MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf2 MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl +MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl1 -MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl2 MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617186 -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pebel1 MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkes weber syndrome +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmavm2 -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618196 -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homgsmr1 +MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, seizures, and mental retardation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:closeMatch OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homgsmr2 MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251290 MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607313 -MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hgpps MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecd1 +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618908 MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618883 -MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dentigerous cyst -MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst +MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dentigerous cyst +MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601680 MONDO:0020835 methemoglobinemia, alpha type skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617973 MONDO:0020838 anterior nasal diphtheria skos:closeMatch NCIT:C34542 Anterior Nasal Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior nasal diphtheria @@ -36306,54 +32012,50 @@ MONDO:0020983 myocardial rupture skos:closeMatch NCIT:C34668 Cardiac Rupture sem MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin -MONDO:0021001 hemochromatosis type 1 skos:narrowMatch ICD10CM:E83.118 Other hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis semapv:RegularExpressionReplacement -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of hfe-related hereditary hemochromatosis +MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235200 +MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis +MONDO:0021001 hemochromatosis type 1 skos:narrowMatch ICD10CM:E83.118 Other hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis semapv:RegularExpressionReplacement MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label symptomatic form of hemochromatosis type 1 MONDO:0021001 hemochromatosis type 1 skos:exactMatch NCIT:C82892 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235200 -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039075 -MONDO:0021002 syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 +MONDO:0021002 syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 +MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039075 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 +MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog-scott syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 +MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 +MONDO:0021005 faciodigitogenital syndrome skos:exactMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog-scott syndrome MONDO:0021005 faciodigitogenital syndrome skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome -MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118700 -MONDO:0021011 hereditary progressive chorea without dementia skos:exactMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bhc MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608207 +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amish brittle hair brain syndrome +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair-brain syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, nonphotosensitive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy-neurocutaneous syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amish brittle hair brain syndrome +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, nonphotosensitive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234050 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501858 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1d -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1d -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300500 +MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342684 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057034 +MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdd -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdd MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 MONDO:0021022 hereditary hyperekplexia skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611162 @@ -36363,94 +32065,89 @@ MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial MONDO:0021032 herpes zoster with dermatitis of eyelid skos:closeMatch NCIT:C34696 Herpes Zoster Dermatitis of Eyelid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes zoster dermatitis of eyelid MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203650 -MONDO:0021040 pancreatic neoplasm skos:closeMatch NCIT:C12393 Pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 +MONDO:0021040 pancreatic neoplasm skos:closeMatch NCIT:C12393 Pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 MONDO:0021047 breast phyllodes tumor skos:exactMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the breast MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006007 MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704327 -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIM:600403 FAP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fap MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032580 MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenomatous polyposis of the colon -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIM:600403 FAP semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fap -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gardner syndrome -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial adenomatous polyposis, attenuated MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, adenomatous intestinal -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial adenomatous polyposis, attenuated +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis coli, attenuated -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch NCIT:C6728 Gardner Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 -MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon MONDO:0021061 neurofibromatosis skos:closeMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurofibromatosis type 2 MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement +MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement MONDO:0021063 malignant colon neoplasm skos:exactMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colon cancer -MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch NCIT:C3060 Glomus Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anti-nmda receptor encephalitis +MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch NCIT:C3060 Glomus Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with nmda receptor antibodies +MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anti-nmda receptor encephalitis MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-nmda receptor encephalitis MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with n-methyl-d-aspartate receptor antibodies -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218330 MONDO:0021094 immunodeficiency disease skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome MONDO:0021094 immunodeficiency disease skos:exactMatch NCIT:C39725 Immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency +MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027404 MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 -MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027404 +MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy MONDO:0021113 respiratory failure skos:closeMatch NCIT:C27043 Acute Respiratory Failure semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute respiratory failure MONDO:0021117 lung neoplasm skos:closeMatch NCIT:C12468 Lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung -MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female infertility MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility +MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female infertility MONDO:0021125 disease characteristic skos:exactMatch NCIT:C27992 Disease Qualifier semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder qualifier semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021129 microphthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nanophthalmos MONDO:0021129 microphthalmia skos:closeMatch NCIT:C98989 Microphthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label microphthalmos +MONDO:0021129 microphthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nanophthalmos MONDO:0021137 not rare skos:exactMatch NCIT:C43461 Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common MONDO:0021140 congenital skos:exactMatch NCIT:C99210 Congenital semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital MONDO:0021141 acquired skos:exactMatch NCIT:C85869 Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired -MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021148 female reproductive system neoplasm skos:closeMatch Orphanet:98063 Rare gynecological tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017416 -MONDO:0021152 inherited skos:closeMatch NCIT:C17938 Genetic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic -MONDO:0021152 inherited skos:exactMatch NCIT:C28018 Inherited semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited MONDO:0021152 inherited skos:closeMatch NCIT:C27998 Hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary -MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder -MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermis disorder semapv:RegularExpressionReplacement -MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement -MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021152 inherited skos:exactMatch NCIT:C28018 Inherited semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited +MONDO:0021152 inherited skos:closeMatch NCIT:C17938 Genetic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermis disorder semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder MONDO:0021156 hypophysitis skos:exactMatch NCIT:C121147 Hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophysitis MONDO:0021162 carotenemia skos:exactMatch NCIT:C26963 Carotenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carotenemia -MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats -MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch OMIM:301050 alport syndrome 1, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats -MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021187 hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement -MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperlipidemia -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021203 serous otitis media skos:exactMatch NCIT:C34886 Secretory Otitis Media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secretory otitis media MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal/paraganglial tumor MONDO:0021281 cavernous hemangioma of retina skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 @@ -36463,49 +32160,34 @@ MONDO:0021377 hypertrophic lichen planus skos:closeMatch NCIT:C34779 Hypertrophi MONDO:0021525 benign neoplasm of corpus uteri skos:narrowMatch ICD10CM:D26.1 Other benign neoplasm of corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym benign neoplasm of corpus uteri semapv:RegularExpressionReplacement MONDO:0021545 myomatous neoplasm skos:closeMatch NCIT:C49012 Myofibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myofibroblastoma MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617607 -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-autoimmune hemolytic anemia MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-autoimmune hemolytic anemia MONDO:0021562 omphalitis skos:closeMatch NCIT:C116008 Omphalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalitis MONDO:0021568 renal tubule disorder skos:closeMatch Orphanet:93603 Rare renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151747 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloilioperoneal atrophy with cardiopathy +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emd2 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edmd2 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sclerosis, susceptibility to -MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch NCIT:C69169 Ms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ms -MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis -MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ms MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sclerosis, susceptibility to +MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616780 MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617712 MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617743 -MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary brain neoplasm MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary brain neoplasm -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 +MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary brain neoplasm +MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma MONDO:0021636 astrocytic tumor skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym astrocytoma -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma -MONDO:0021651 synpolydactyly skos:exactMatch NCIT:C125597 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly +MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 +MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly +MONDO:0021651 synpolydactyly skos:exactMatch NCIT:C125597 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian sex cord tumor with annular tubules MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1395264 MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001650 @@ -36517,20 +32199,16 @@ MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semap MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vaginismus MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus -MONDO:0021726 abdominal cystic lymphangioma skos:closeMatch OMIM:618762 DNPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcl MONDO:0021736 proctosigmoiditis skos:closeMatch NCIT:C34950 Proctosigmoiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proctosigmoiditis MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement -MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement +MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021750 pyonephrosis skos:closeMatch NCIT:C123032 Pyonephrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyonephrosis MONDO:0021765 radiculitis skos:closeMatch NCIT:C78581 Radiculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiculitis MONDO:0021777 acute rheumatic heart disease skos:closeMatch NCIT:C34985 Acute Rheumatic Heart Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute rheumatic heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021783 streptococcal sore throat skos:closeMatch NCIT:C116003 Streptococcal Pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label streptococcal pharyngitis MONDO:0021783 streptococcal sore throat skos:closeMatch NCIT:C116003 Streptococcal Pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label streptococcal pharyngitis -MONDO:0021808 acute cholinergic dysautonomia skos:closeMatch OMIM:607541 corneal dystrophy, avellino iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd -MONDO:0021808 acute cholinergic dysautonomia skos:closeMatch OMIM:609377 ACD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd -MONDO:0021808 acute cholinergic dysautonomia skos:closeMatch OMIM:609377 ACD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acd MONDO:0021809 primary dysautonomia skos:closeMatch NCIT:C53439 Dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysautonomia MONDO:0021811 acute mountain sickness skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label high altitude pulmonary edema MONDO:0021895 temporomandibular joint dysfunction syndrome skos:closeMatch NCIT:C35066 Temporomandibular Joint Dysfunction Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temporomandibular joint dysfunction syndrome @@ -36541,12 +32219,7 @@ MONDO:0021929 traumatic myositis ossificans skos:closeMatch NCIT:C35081 Traumati MONDO:0021932 infection by Trypanosoma gambiense skos:closeMatch NCIT:C35084 Gambian Trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gambian trypanosomiasis MONDO:0021953 tuberculous fibrosis of lung skos:closeMatch NCIT:C35088 Tuberculous Fibrosis of Lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberculous fibrosis of lung MONDO:0021953 tuberculous fibrosis of lung skos:closeMatch NCIT:C35088 Tuberculous Fibrosis of Lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberculous fibrosis of lung -MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0021960 ureteritis skos:closeMatch NCIT:C78666 Ureteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureteritis -MONDO:0022022 bowenoid papulosis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bp MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C3461 Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoblastic lymphoma MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lobular capillary hemangioma MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lobular capillary hemangioma @@ -36554,43 +32227,31 @@ MONDO:0022103 chronic prostatitis skos:closeMatch NCIT:C26930 Chronic Prostatiti MONDO:0022103 chronic prostatitis skos:closeMatch NCIT:C26930 Chronic Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic prostatitis MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central centrifugal cicatricial alopecia MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central centrifugal cicatricial alopecia -MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccca -MONDO:0022140 Charles bonnet syndrome skos:closeMatch OMIM:613381 CBS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cbs -MONDO:0022140 Charles bonnet syndrome skos:closeMatch OMIM:613381 CBS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbs MONDO:0022174 chromosome 12p deletion skos:closeMatch NCIT:C36410 Loss of Chromosome 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 12p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022180 chromosome 16 trisomy skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022180 chromosome 16 trisomy skos:closeMatch NCIT:C37866 Trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022293 vascular disorder of penis skos:closeMatch NCIT:C35218 Penile Vascular Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label penile vascular disorder MONDO:0022293 vascular disorder of penis skos:closeMatch NCIT:C35218 Penile Vascular Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label penile vascular disorder MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corticobasal syndrome -MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hair defect with photosensitivity and mental retardation MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair defect with photosensitivity and mental retardation +MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hair defect with photosensitivity and mental retardation +MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical intraepithelial neoplasia MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia -MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical intraepithelial neoplasia MONDO:0022430 persistent fetal circulation syndrome skos:narrowMatch ICD10CM:P29.38 Other persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym persistent fetal circulation semapv:RegularExpressionReplacement -MONDO:0022518 autoimmune inner ear disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aied -MONDO:0022518 autoimmune inner ear disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aied MONDO:0022538 leukoplakia of gingiva skos:closeMatch NCIT:C3881 Leukoplakia of Gingiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoplakia of gingiva MONDO:0022538 leukoplakia of gingiva skos:closeMatch NCIT:C3881 Leukoplakia of Gingiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoplakia of gingiva MONDO:0022578 childhood bladder carcinoma skos:exactMatch OMIM:109800 bladder cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder cancer MONDO:0022578 childhood bladder carcinoma skos:exactMatch OMIM:109800 bladder cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bladder cancer MONDO:0022636 candida glabrata infection skos:exactMatch NCIT:C77179 Candida glabrata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label candida glabrata -MONDO:0022714 chester porphyria skos:closeMatch OMIM:300651 PORCN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porc -MONDO:0022715 Chiari malformation type 3 skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 -MONDO:0022716 Chiari malformation type 4 skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022754 chromosome 17p deletion skos:closeMatch NCIT:C36499 Loss of Chromosome 17p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 17p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022757 chromosome 20 trisomy skos:closeMatch NCIT:C36397 Trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 20 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022757 chromosome 20 trisomy skos:closeMatch NCIT:C36397 Trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022759 trisomy 22 skos:exactMatch NCIT:C114765 Trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022800 type 2 collagenopathy skos:closeMatch OMIM:120140 COL2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label col2a1 -MONDO:0022800 type 2 collagenopathy skos:closeMatch OMIM:120140 COL2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym col2a1 -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym delta-1-pyrroline-5-carboxylate dehydrogenase deficiency -MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch OMIM:300108 DIAPH2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dia MONDO:0022968 dextrocardia with situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs inversus totalis MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia @@ -36599,7 +32260,6 @@ MONDO:0023023 neonatal dacryocystitis skos:closeMatch NCIT:C116819 Neonatal Dacr MONDO:0023038 eccentrochondrodysplasia skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 MONDO:0023048 ectodermal dysplasia neurosensory deafness skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 MONDO:0023054 klumpke's paralysis skos:closeMatch NCIT:C116724 Klumpke Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klumpke palsy -MONDO:0023069 enlarged vestibular aqueduct syndrome skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 MONDO:0023076 eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofuji disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0023093 exertional headache skos:closeMatch NCIT:C117079 Primary Exertional Headache semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary exertional headache MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931456 @@ -36610,34 +32270,33 @@ MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C128381 Viral Myocarditis s MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931412 MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcmd -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label functioning neuroendocrine tumor of pancreas +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder ic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder ic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931468 MONDO:0023415 congenital candidiasis skos:closeMatch NCIT:C116811 Congenital Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital candidiasis MONDO:0023415 congenital candidiasis skos:closeMatch NCIT:C116811 Congenital Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital candidiasis -MONDO:0023419 hyperprolinemia skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proline oxidase deficiency MONDO:0023419 hyperprolinemia skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolinemia type 1 +MONDO:0023419 hyperprolinemia skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proline oxidase deficiency MONDO:0023419 hyperprolinemia skos:closeMatch OMIM:239500 hyperprolinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proline oxidase deficiency MONDO:0023554 acquired testicular failure skos:closeMatch NCIT:C131091 Acquired Testicular Failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired testicular failure MONDO:0023554 acquired testicular failure skos:closeMatch NCIT:C131091 Acquired Testicular Failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired testicular failure MONDO:0023557 infective vaginitis skos:closeMatch NCIT:C84353 Vaginal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vaginal infection MONDO:0023557 infective vaginitis skos:closeMatch NCIT:C84353 Vaginal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vaginal infection -MONDO:0023579 Kuster Majewski Hammerstein syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225280 +MONDO:0023595 congenital myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410226 MONDO:0023595 congenital myotonic dystrophy skos:closeMatch NCIT:C123308 Congenital Myotonic Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital myotonic dystrophy MONDO:0023595 congenital myotonic dystrophy skos:closeMatch NCIT:C123308 Congenital Myotonic Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital myotonic dystrophy -MONDO:0023595 congenital myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410226 -MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal papillomatosis MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal papillomatosis +MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal papillomatosis MONDO:0023599 mesomelic dysplasia skos:closeMatch NCIT:C121156 Mesomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia MONDO:0023599 mesomelic dysplasia skos:closeMatch NCIT:C121156 Mesomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia MONDO:0023603 hereditary disorder of connective tissue skos:closeMatch NCIT:C97075 Hereditary Connective Tissue Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary connective tissue disorder @@ -36651,483 +32310,419 @@ MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paragan MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tympanic paraganglioma MONDO:0023820 Moebius axonal neuropathy hypogonadism skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 MONDO:0023880 WHIM syndrome skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome -MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0023910 Martsolf syndrome skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome +MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0024245 ductal eccrine adenocarcinoma skos:closeMatch NCIT:C54664 Hidradenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenocarcinoma MONDO:0024249 pityriasis lichenoides skos:closeMatch NCIT:C37871 Pityriasis Lichenoides et Varioliformis Acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides et varioliformis acuta MONDO:0024251 Minamata disease skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minamata disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616973 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to thyroid dysgenesis MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athyreotic hypothyroidism -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to thyroid dysgenesis MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, athyreotic MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid agenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid, ectopic -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia +MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:603154 PNN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs +MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 +MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617039 MONDO:0024275 amebic dysentery skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label amoebiasis due to entamoeba histolytica MONDO:0024275 amebic dysentery skos:closeMatch NCIT:C34558 Amebic Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amebic colitis MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal thrombocytopenia MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal thrombocytopenia -MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperbilirubinemia MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbilirubinemia -MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular malformation +MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperbilirubinemia MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular malformation +MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular malformation MONDO:0024295 skin disease caused by bacterial infection skos:closeMatch NCIT:C157794 Bacterial Skin Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bacterial skin disorder semapv:RegularExpressionReplacement -MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets +MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets -MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis vulgaris -MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris +MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis vulgaris -MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia -MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia +MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ichthyosis vulgaris MONDO:0024305 acquired hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia +MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia +MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0024306 acquired lactic acidosis skos:closeMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactic acidosis MONDO:0024307 prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prothrombin deficiency -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pxe -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoxanthoma elasticum -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pxe MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoxanthoma elasticum +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, progressive sensory, of children MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201300 MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory radicular, autosomal recessive -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morvan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, progressive sensory, of children -MONDO:0024331 colorectal carcinoma skos:exactMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crc +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morvan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic MONDO:0024361 circadian rhythm sleep disorder skos:narrowMatch ICD10CM:G47.29 Other circadian rhythm sleep disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym circadian rhythm sleep disorder semapv:RegularExpressionReplacement -MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dspd MONDO:0024422 auditory perceptual disorders skos:closeMatch NCIT:C84575 Auditory Perceptual Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label auditory perceptual disorder -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris hypoplasia with glaucoma -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma -MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym igda MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma iridogoniodysplasia, familial -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plan -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch NCIT:C25619 Plan semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plan -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroaxonal dystrophy, infantile +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris hypoplasia with glaucoma +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256600 -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inad1 +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroaxonal dystrophy, infantile MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, autosomal recessive -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233300 +MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, with normal karyotype MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, with normal karyotype +MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233300 MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832284 MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601471 -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral +MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 +MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14161 Low Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label low grade MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14171 Well Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label well differentiated -MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C28083 Intermediate Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermediate grade MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C14162 Moderately Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moderately differentiated -MONDO:0024492 tumor grade 2, general grading system skos:exactMatch OMIM:612297 C11ORF41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g2 +MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C28083 Intermediate Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermediate grade MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C14167 Poorly Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poorly differentiated MONDO:0024494 tumor grade 4, general grading system skos:exactMatch NCIT:C14176 Undifferentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label undifferentiated -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3017 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioma of brain, familial +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioma of brain, familial +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3288 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digestive system neuroendocrine tumor +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3017 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C2915 Carcinoid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumor MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gep-nen +MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digestive system neuroendocrine tumor MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serotonin-producing neuroendocrine tumor of pancreas +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with terminal transverse limb defects +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100300 -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aos -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with terminal transverse limb defects MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 MONDO:0024507 aniridia 1 skos:closeMatch OMIM:106210 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia ii, formerly MONDO:0024507 aniridia 1 skos:closeMatch OMIM:106210 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with late-onset corneal dystrophy MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 -MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous +MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch NCIT:C99041 Renal Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary renal aplasia +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal aplasia MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal adysplasia +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary renal aplasia +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal agenesis +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal aplasia -MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch NCIT:C99041 Renal Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 +MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal aortic aneurysm +MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal aortic aneurysm MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, abdominal aortic MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial cutaneous lichen MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen amyloidosis, familial -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pca +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic stenosis, calcific -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, bicuspid MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, calcification of -MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder semapv:RegularExpressionReplacement -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127500 -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi renotubular syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult fanconi syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi syndrome without cystinosis -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luder-sheldon syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi renotubular syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal fanconi syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult fanconi syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luder-sheldon syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135500 MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial +MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157640 -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barlow syndrome MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, familial -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floppy mitral valve -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous valvular disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, myxomatous type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym click-murmur syndrome -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barlow syndrome +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floppy mitral valve +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous valvular disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157700 +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, benign congenital -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, benign congenital, with contractures -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bthlm1 +MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, benign congenital, with contractures MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubular aggregate myopathy -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tam1 -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160565 +MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166780 -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc1 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, fenfluramine-associated -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph1 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, dexfenfluramine-associated -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1, with hereditary hemorrhagic telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pht +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph1 with hht +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1, with hereditary hemorrhagic telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddd -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddd1 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, dexfenfluramine-associated +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179850 MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgmrt1 +MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182250 +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NCIT:C123727 Familial Glucocorticoid Deficiency Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202200 -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccd1 -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal unresponsiveness to acth +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth resistance -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NCIT:C123727 Familial Glucocorticoid Deficiency Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bvvls1 -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbar palsy, progressive, with sensorineural deafness MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontobulbar palsy with deafness +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbar palsy, progressive, with sensorineural deafness -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213600 -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferrocalcinosis, cerebrovascular -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, autosomal dominant, adult-onset MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fahr disorder, familial, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferrocalcinosis, cerebrovascular +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215500 -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cacd1 -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jlns1 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym the syndrome -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, fatal infantile, with trichorrhexis nodosa -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thes1 -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, syndromic MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, syndromic +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, fatal infantile, with trichorrhexis nodosa +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym the syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq1 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital, and mental retardation, autosomal recessive -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragilitas oculi with joint hyperextensibility -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcs1 +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229200 -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmd1 -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmd1 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850808 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi myopathy +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phoar1 -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioosteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal recessive MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial idiopathic osteoarthropathy of childhood -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen1 -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioosteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin peeling, familial continuous generalized -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolysis exfoliativa congenita -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss1 -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:612792 PTDSS1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss1 -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolysis exfoliativa congenita +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin peeling, familial continuous generalized MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305620 +MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmd -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmd1 -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305620 +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus infection, familial fatal -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp1 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infectious mononucleosis, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus infection, familial fatal MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebv infection, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp1 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with linear skin defects -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, dermal aplasia, and sclerocornea -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca1 MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309801 MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, dermal aplasia, and sclerocornea +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with linear skin defects +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 +MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600462 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlasa1 -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600462 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600721 -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d2hga1 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvm -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:605908 MLC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc1 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:605908 MLC1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mlc1 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vl -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der knaap disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with swelling and cysts -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc1 +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der knaap disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604004 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvm MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with variable foci -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffevf1 MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld1 -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858391 -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rusat1 MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rusat MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, congenital, with radioulnar synostosis MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faa1 MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, thoracic aortic MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607411 -MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pda -MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitelliform macular dystrophy, adult-onset MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608161 -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitelliform macular dystrophy, adult-onset -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmd3 -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome, congenital +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus rhythm, congenital absence of +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus rhythm, congenital absence of -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss1 -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610551 MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae1 -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc1 -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coats plus syndrome -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 +MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610551 MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome -MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edss1 +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coats plus syndrome MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613573 -MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edss1 MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feb11 MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614418 MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615419 -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihprf1 MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihprf MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615438 -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch OMIM:615438 infantile liver failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilfs1 MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616648 -MONDO:0024570 hyperparathyroidism 4 skos:closeMatch OMIM:617343 hyperparathyroidism 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hrpt4 MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617343 -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 +MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 +MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024575 pregnancy disorder skos:closeMatch NCIT:C34941 Pregnancy Complication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pregnancy complication MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with cataracts and intellectual disability -MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdccaid MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with cataracts and intellectual disability MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NCIT:C118420 Otolaryngologic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label otolaryngologic disorder semapv:RegularExpressionReplacement MONDO:0024636 inflammation of heart layer skos:exactMatch NCIT:C168128 Carditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carditis @@ -37136,17 +32731,16 @@ MONDO:0024664 hypertension, pregnancy-induced skos:closeMatch NCIT:C4371 Gestati MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinoma tumor suppressor gene locus MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinoma tumor suppressor gene locus +MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 -MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 -MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type gct -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor +MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039106 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tgct +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type gct +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301074 @@ -37162,7 +32756,6 @@ MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orp MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 MONDO:0025382 sarcoma, avian skos:closeMatch NCIT:C17466 Rous Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rous sarcoma MONDO:0025419 furunculosis skos:closeMatch NCIT:C99087 Furuncle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label furuncle -MONDO:0025487 murine acquired immunodeficiency syndrome skos:closeMatch NCIT:C21881 MAIDS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maids MONDO:0025487 murine acquired immunodeficiency syndrome skos:closeMatch NCIT:C17375 Murine AIDS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine aids MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C131469 Bovine Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine leukemia MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C134767 Bovine Lymphosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine lymphosarcoma @@ -37176,155 +32769,122 @@ MONDO:0025712 angioedema, hereditary, 4 skos:closeMatch Orphanet:91378 Hereditar MONDO:0025713 angioedema, hereditary, 7 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619366 MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sxi1 -MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sxi2 +MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 -MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch OMIM:301020 mitochondrial complex 1 deficiency, nuclear iia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn12 MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 -MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch OMIM:301021 mitochondrial complex 1 deficiency, nuclear iia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn30 +MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder, x-linked, with craniofacial abnormalities MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkms MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullegama-klein-martinez syndrome -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder, x-linked, with craniofacial abnormalities MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx108 MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paganini-miozzo syndrome MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paganini-miozzo syndrome -MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxspm MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301028 -MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch OMIM:301028 nephrotic syndrome, iia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs20 -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shuver MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shukla-vernon syndrome MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shukla-vernon syndrome -MONDO:0026729 congenital disorder of glycosylation, type ICC skos:closeMatch OMIM:301031 congenital disorder of glycosylation, iia icc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg1cc +MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch OMIM:301032 basilicata-akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch OMIM:301032 basilicata-akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsba MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng8 MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng9 MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:closeMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxshd MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:closeMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with marfanoid habitus, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wieacker-wolff syndrome, female-restricted -MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wrwffr MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wieacker-wolff syndrome, female-restricted MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpe13 -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 +MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 MONDO:0026765 congenital disorder of glycosylation, type IIr skos:closeMatch OMIM:301045 congenital disorder of glycosylation, iia iir semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iir -MONDO:0026765 congenital disorder of glycosylation, type IIr skos:closeMatch OMIM:301045 congenital disorder of glycosylation, iia iir semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg2r MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd74 MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026777 VEXAS syndrome skos:exactMatch NCIT:C181924 VEXAS Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 MONDO:0027026 Buschke Lowenstein tumor skos:closeMatch NCIT:C6371 Giant Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant condyloma acuminatum MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch NCIT:C186788 Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617403 -MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch OMIM:617402 cutis laxa, autosomal recessive, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2c MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617402 MONDO:0027652 5-fluorouracil toxicity skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 5-fluorouracil toxicity -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelviureteric junction obstruction -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cakut2 -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureteropelvic junction obstruction MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis due to pujo -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicystic renal dysplasia, bilateral MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch NCIT:C99007 Pelviureteric Junction Obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelviureteric junction obstruction +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicystic renal dysplasia, bilateral +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureteropelvic junction obstruction +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelviureteric junction obstruction +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617839 MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia MONDO:0029000 poisoning skos:exactMatch NCIT:C34933 Poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poisoning MONDO:0029000 poisoning skos:closeMatch NCIT:C28283 Intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intoxication MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618123 -MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch OMIM:618123 polydactyly, postaxial, iia a8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa8 -MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:closeMatch OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnriid -MONDO:0029132 Liddle syndrome 3 skos:closeMatch OMIM:618126 liddle syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lidls3 MONDO:0029132 Liddle syndrome 3 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618126 -MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lgmdd4 MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618129 -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch OMIM:618131 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch OMIM:618131 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd58 -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch OMIM:618131 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgc8 MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618138 -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lgmdr23 -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna74 MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 -MONDO:0029141 Usher syndrome, type 4 skos:closeMatch OMIM:618144 usher syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush4 MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618145 -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb111 -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddhdf -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehmto -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mto deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis with dimethylsulfoxiduria MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis due to methanethiol oxidase deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extraoral halitosis due to methanethiol oxidase deficiency -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618149 -MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofc8 +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft type 51p with or without cleft palate, nonsyndromic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618149 MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 -MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf33 +MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf34 MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618841 MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome +MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618853 MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618906 MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618913 MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618914 -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna77 MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618918 MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618920 @@ -37334,8 +32894,8 @@ MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher- MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618948 MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618955 MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 -MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitchell syndrome MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome +MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitchell syndrome MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618961 MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618845 MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618856 @@ -37387,9 +32947,9 @@ MONDO:0030471 Galloway-Mowat syndrome 9 skos:closeMatch Orphanet:2065 Galloway-M MONDO:0030472 developmental and epileptic encephalopathy 98 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619605 MONDO:0030473 developmental and epileptic encephalopathy 99 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619606 MONDO:0030476 Galloway-Mowat syndrome 10 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619609 +MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619555 MONDO:0030492 spermatogenic failure 59 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619645 MONDO:0030493 spermatogenic failure 60 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619646 @@ -37409,12 +32969,12 @@ MONDO:0030531 spermatogenic failure 65 skos:closeMatch Orphanet:399805 Male infe MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619599 MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619482 MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619483 -MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030608 interstitial lung disease 1 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619611 -MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome +MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619708 MONDO:0030679 Noonan syndrome 14 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619745 MONDO:0030680 cardiomyopathy, dilated, 2F skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619747 @@ -37428,11 +32988,11 @@ MONDO:0030716 spermatogenic failure 66 skos:closeMatch Orphanet:399805 Male infe MONDO:0030718 spermatogenic failure 67 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 MONDO:0030719 deafness, autosomal dominant 82 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 MONDO:0030721 spermatogenic failure 68 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619813 MONDO:0030727 developmental and epileptic encephalopathy 101 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619814 @@ -37449,8 +33009,12 @@ MONDO:0030781 restrictive dermopathy 2 skos:closeMatch Orphanet:1662 Restrictive MONDO:0030797 retinitis pigmentosa 93 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619845 MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619849 MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619041 -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement MONDO:0030809 spermatogenic failure 72 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619868 MONDO:0030818 spermatogenic failure 73 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 @@ -37464,8 +33028,8 @@ MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619101 MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619102 MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619108 -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 +MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619099 MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619115 MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619120 @@ -37488,63 +33052,62 @@ MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal de MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 MONDO:0030886 holoprosencephaly 14 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619895 MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619897 -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 MONDO:0030894 AMED syndrome, digenic skos:exactMatch NCIT:C185246 AMeD Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome +MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619155 MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619148 MONDO:0030897 Lessel-Kreienkamp syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619149 MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619165 MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619170 -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 +MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb117 MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619174 MONDO:0030907 intellectual disability, X-linked 106 skos:closeMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs35 -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 +MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs35 MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxshg MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301008 MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd45 -MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd46 MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd46 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617635 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd47 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd48 MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd48 MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617751 -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch OMIM:617752 clark-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser syndrome MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931130 MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 -MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt61 +MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch OMIM:617752 clark-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser syndrome MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alwadei syndrome MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt61 MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd50 -MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd51 +MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617796 +MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd51 MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd52 -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd53 +MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617796 MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617798 -MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd54 +MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd53 +MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617799 +MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd54 +MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617831 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd55 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 55, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617831 -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd56 +MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 +MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd56 MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619176 @@ -37560,19 +33123,63 @@ MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:closeMatch MONDO:0030938 spermatogenic failure 52 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619202 MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619209 MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619173 +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030957 developmental and epileptic encephalopathy 103 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619913 +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030961 Olmsted syndrome 2 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619208 MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619201 +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619931 +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ifnar1 deficiency MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619220 +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030972 spermatogenic failure 74 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619224 -MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 +MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 MONDO:0030977 neuropathy, hereditary motor, with myopathic features skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619217 MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619218 +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030983 Waardenburg syndrome, IIa 2F skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619947 +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030984 spermatogenic failure 75 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 MONDO:0030989 spermatogenic failure 53 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619258 MONDO:0030991 bile acid conjugation defect 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619232 @@ -37580,10 +33187,10 @@ MONDO:0030994 neurodevelopmental disorder with or without autism or seizures sko MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619243 MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619271 MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619272 -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna80 -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619244 MONDO:0031002 Baralle-Macken syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619256 @@ -37591,1385 +33198,1071 @@ MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619263 MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619267 MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619264 +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031021 developmental and epileptic encephalopathy 104 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619970 +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccm -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis, isolated low-ggt MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620010 +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central conducting lymphatic anomaly +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620015 +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031045 arthrogryposis, distal, IIa 11 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620019 +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031047 stickler syndrome, IIa 6 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620022 +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620032 +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031055 developmental and epileptic encephalopathy 107 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620033 +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, digenic MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620040 +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyskeratosis congenita, digenic +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskeratosis congenita, digenic +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031062 polycystic kidney disease 7 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620056 +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031169 odontochondrodysplasia skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia MONDO:0031213 restrictive dermopathy skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein iib-iiia deficiency +MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273800 -MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of deglycosylation MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch NCIT:C126746 Congenital Disorder of Deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation +MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of deglycosylation MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607748 +MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614231 MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618009 -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd61 MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca48 -MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement +MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618154 -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hklls3 +MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, external, with rib and vertebral anomalies MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, external, with rib and vertebral anomalies -MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eorva MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with low cholesterol and abnormal urine organic acids MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squalene synthase deficiency MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squalene synthase deficiency -MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sqsd -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd4 MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism of sindh -MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddmssd -MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with macrocephaly, seizures, and speech delay +MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with macrocephaly, seizures, and speech delay +MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032569 isolated growth hormone deficiency, type 5 skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618160 MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts35 -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618161 MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:closeMatch OMIM:618162 spondyloepimetaphyseal dysplasia, krakow iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdk -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cafdadd +MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618161 MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac, facial, and digital anomalies with developmental delay MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac, facial, and digital anomalies with developmental delay MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bmfs5 +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac, facial, and digital anomalies with developmental delay MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrodysplasia, brachydactyly, and overlapping malformed digits +MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondrodysplasia, brachydactyly, and overlapping malformed digits -MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocbmd +MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrodysplasia, brachydactyly, and overlapping malformed digits MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar9 -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp83 MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdcbm9 MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg-cinotti syndrome MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg-cinotti syndrome -MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wrcn -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch OMIM:618176 nephrotic syndrome, iia 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs17 MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618176 MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618177 -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch OMIM:618177 nephrotic syndrome, iia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs18 -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch OMIM:618178 nephrotic syndrome, iia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs19 MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618178 -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph24 -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 24, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618179 +MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 24, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 24, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:closeMatch OMIM:618180 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd14 -MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:closeMatch OMIM:618183 diarrhea 10, protein-losing enteropathy iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar10 MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618183 -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvnh8 MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618185 -MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg8 +MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618188 MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd2c -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder and retinitis pigmentosa MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder and retinitis pigmentosa -MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddrp MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618195 MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618197 MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms23 -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms24 -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618198 +MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd15a MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-campeau syndrome MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618205 -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snibcps MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-campeau syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibdimde -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618213 MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618219 -MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch OMIM:618219 polydactyly, postaxial, iia a9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa9 MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp84 -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt66 +MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch OMIM:618222 mitochondrial complex 1 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn2 -MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vetd -MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral anomalies and variable endocrine and t-cell dysfunction +MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies and variable endocrine and t-cell dysfunction -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 +MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral anomalies and variable endocrine and t-cell dysfunction MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch OMIM:618224 mitochondrial complex 1 deficiency, nuclear iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn3 -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch OMIM:618225 mitochondrial complex 1 deficiency, nuclear iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn4 -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 +MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 +MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch OMIM:618226 mitochondrial complex 1 deficiency, nuclear iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn5 MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 +MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch OMIM:618228 mitochondrial complex 1 deficiency, nuclear iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn6 -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch OMIM:618229 mitochondrial complex 1 deficiency, nuclear iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn7 -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch OMIM:618230 mitochondrial complex 1 deficiency, nuclear iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn8 +MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ev2 +MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 -MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch OMIM:618232 mitochondrial complex 1 deficiency, nuclear iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn9 MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618232 -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch OMIM:618233 mitochondrial complex 1 deficiency, nuclear iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn10 MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 -MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch OMIM:618234 mitochondrial complex 1 deficiency, nuclear iia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn11 +MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618234 -MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn13 MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618235 MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618236 -MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch OMIM:618236 mitochondrial complex 1 deficiency, nuclear iia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn14 -MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch OMIM:618237 mitochondrial complex 1 deficiency, nuclear iia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn15 MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618237 MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618238 -MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch OMIM:618238 mitochondrial complex 1 deficiency, nuclear iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn16 MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618239 -MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:closeMatch OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn17 -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch OMIM:618240 mitochondrial complex 1 deficiency, nuclear iia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn18 -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 -MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch OMIM:618241 mitochondrial complex 1 deficiency, nuclear iia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn19 +MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618242 -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn21 MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618243 -MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 skos:closeMatch OMIM:618243 mitochondrial complex 1 deficiency, nuclear iia 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn22 -MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 skos:closeMatch OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn23 MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618244 -MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch OMIM:618245 mitochondrial complex 1 deficiency, nuclear iia 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn24 MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618245 -MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch OMIM:618246 mitochondrial complex 1 deficiency, nuclear iia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn25 MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618246 -MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 skos:closeMatch OMIM:618247 mitochondrial complex 1 deficiency, nuclear iia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn26 -MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 skos:closeMatch OMIM:618248 mitochondrial complex 1 deficiency, nuclear iia 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn27 MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618248 MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618249 -MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 skos:closeMatch OMIM:618249 mitochondrial complex 1 deficiency, nuclear iia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn28 MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618250 -MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch OMIM:618250 mitochondrial complex 1 deficiency, nuclear iia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn29 MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618251 -MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch OMIM:618251 mitochondrial complex 1 deficiency, nuclear iia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn31 MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618252 -MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch OMIM:618252 mitochondrial complex 1 deficiency, nuclear iia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn32 -MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch OMIM:618253 mitochondrial complex 1 deficiency, nuclear iia 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn33 MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618253 -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild39 MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb112 +MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 +MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrmv4 MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618264 -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acciid MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ev3 -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoneurodevelopmental syndrome -MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thns MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoneurodevelopmental syndrome MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cakut3 MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations -MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccchcm MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations -MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypt14 MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618275 -MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym condca -MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with cerebellar atrophy -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finca +MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis, neurodegeneration, and cerebral angiomatosis -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finca MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-urogenital syndrome -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cugs MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-urogenital syndrome -MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hies3 -MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visual impairment and progressive phthisis bulbi -MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vipb MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visual impairment and progressive phthisis bulbi MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum -MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcidds MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum +MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with mental retardation MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with impaired intellectual development MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly, acquired, with impaired intellectual development -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macid -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with mental retardation -MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmcu MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous ulceration, chronic MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucocutaneous ulceration, chronic -MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smaled2b -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedidha +MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618292 +MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt67 MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 +MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild40 -MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt68 +MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ev4 -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ev5 +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618309 +MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba18 -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba19 +MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba20 MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddcdf -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with cardiac defects and dysmorphic facies -MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc7 -MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with cardiac defects and dysmorphic facies +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms25 -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618323 MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 9 with complex brainstem malformation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 9 with complex brainstem malformation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis9 +MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd37 MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay with or without impaired intellectual development -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618330 MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay with or without impaired intellectual development -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gddi -MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618330 MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with episodic rhabdomyolysis -MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peerb -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagei syndrome -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagei -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency -MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development -MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casgid +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagei syndrome MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development -MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf35 -MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddabs +MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 -MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgedsv -MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria with or without vascular-type ehlers-danlos syndrome -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp85 MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth deficiency, seizures, and brain malformations -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migsb MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations +MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618347 -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos6 +MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618348 -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos7 -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos8 MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618349 -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph25 +MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618351 MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd6 +MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618353 -MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder and language delay with or without structural brain abnormalities -MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedlba -MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedcpmd +MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eig15 -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css8 MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 -MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssasks -MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618367 -MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scar27 MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocardioskeletal syndrome MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turnpenny-fry syndrome MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turnpenny-fry syndrome -MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpfs -MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocardioskeletal syndrome -MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd38 MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fheig MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618381 -MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt69 +MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arliak MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618384 MONDO:0032717 amelogenesis imperfecta, type 3c skos:closeMatch OMIM:618386 amelogenesis imperfecta, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypocalcification type, autosomal recessive -MONDO:0032717 amelogenesis imperfecta, type 3c skos:closeMatch OMIM:618386 amelogenesis imperfecta, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ai3c -MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedkf MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes MONDO:0032723 immunodeficiency 60 skos:closeMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and autoimmunity, bach2-related -MONDO:0032723 immunodeficiency 60 skos:closeMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd60 MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618395 MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618397 +MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd39 -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd39 -MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:closeMatch OMIM:618400 charcot-marie-tooth disease, axonal, iia 2ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2ee +MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt70 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 -MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld18 MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb113 -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with impaired intellectual development and progressive ataxia -MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay, progressive ataxia, and elevated glutamine -MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gdpag -MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctrct48 -MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618415 -MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression -MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecren MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg80 +MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 80, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 80, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:closeMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy -MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf36 MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb100 -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618422 MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedishm +MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired speech and hyperkinetic movements -MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae9 -MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 -MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf37 -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618430 -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddviba -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with variable intellectual impairment and behavioral abnormalities +MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with variable intellectual impairment and behavioral abnormalities +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618430 MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydm3 +MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618431 -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydm4 -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618432 +MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 -MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf38 MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb94 +MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 +MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618434 MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618434 +MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spax9 MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without variable brain abnormalities MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without variable brain abnormalities -MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedba -MONDO:0032756 long qt syndrome 8 skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lqt8 -MONDO:0032756 long qt syndrome 8 skos:exactMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without variable brain abnormalities MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lqt8 MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 +MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:exactMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 +MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild41 MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia -MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndcama MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia -MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddssa +MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and variable skeletal anomalies -MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with or without dysmorphic facies and autism MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with or without dysmorphic facies and autism -MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deddfa -MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb114 +MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with or without dysmorphic facies and autism MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618456 -MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb115 -MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd62 +MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label khan-khan-katsanis syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym khan-khan-katsanis syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3k syndrome -MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3ks MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdplt22 -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein a-i deficiency +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl6 MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618464 MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch NCIT:C179296 Developmental and Epileptic Encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddssad +MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with severe speech and ambulation defects +MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618470 -MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgl7 -MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618475 MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain abnormalities, neurodegeneration, and dysosteosclerosis -MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym banddos MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain abnormalities, neurodegeneration, and dysosteosclerosis -MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urctu MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine-cytidineuria MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine-cytidineuria -MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar, ocular, craniofacial, and genital syndrome -MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cofg MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar, ocular, craniofacial, and genital syndrome -MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedsswi +MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar, ocular, craniofacial, and genital syndrome MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and speech and walking impairment MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and speech and walking impairment -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb99 +MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618481 MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618481 -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp10 MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618482 MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 -MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and structural brain anomalies -MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmiba -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hidea -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hypotonia, epilepsy, developmental delay, and digital anomalies -MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chedda -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, beta, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd122 deficiency -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd63 -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency -MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aovd3 +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, beta, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedneh MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618498 -MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch OMIM:618498 polydactyly, postaxial, iia a10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa10 -MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032786 Noonan syndrome 11 skos:exactMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ns11 +MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 -MONDO:0032786 Noonan syndrome 11 skos:exactMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpe12 -MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy with seizures and variable developmental delay MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy with seizures and variable developmental delay -MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casvdd -MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy with seizures and variable developmental delay MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt71 +MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities -MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedcfsa -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:closeMatch OMIM:618512 o'donnell-luria-rodan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odluro +MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 +MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618513 MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lca19 MONDO:0032795 intellectual developmental disorder 59 skos:closeMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032795 intellectual developmental disorder 59 skos:closeMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd59 -MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 myopathy, congenital, with tremor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, with tremor -MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 myopathy, congenital, with tremor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with tremor -MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 myopathy, congenital, with tremor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotrem -MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 myopathy, congenital, with tremor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myogenic tremor -MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ikshd -MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features +MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with tremor +MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myogenic tremor MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features -MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps16 +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrs2 MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp6 MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 +MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna37 -MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032803 immunodeficiency 64 skos:closeMatch OMIM:618534 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd64 -MONDO:0032803 immunodeficiency 64 skos:closeMatch OMIM:618534 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 -MONDO:0032803 immunodeficiency 64 skos:closeMatch OMIM:618534 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618535 -MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd15 MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypopigmentation, organomegaly, and delayed myelination and development MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation, organomegaly, and delayed myelination and development -MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hod -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd7 -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with visual defects and brain anomalies -MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedviba -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fvh -MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatitis, fulminant viral, susceptibility to +MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis, fulminant viral, susceptibility to -MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd7 +MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatitis, fulminant viral, susceptibility to MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618555 MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym padmal -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microangiopathy and leukoencephalopathy, pontine, autosomal dominant -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym padmal +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathy and leukoencephalopathy, pontine, autosomal dominant +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps17 MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedahm MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies -MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndcagf MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies -MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cerebellar hypoplasia and spasticity -MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedchs MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cerebellar hypoplasia and spasticity -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng7 +MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cerebellar hypoplasia and spasticity +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone resistance, generalized MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone resistance, generalized -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedbaf MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with structural brain anomalies and dysmorphic facies -MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 myopathy, congenital, progressive, with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosco -MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 myopathy, congenital, progressive, with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, progressive, with scoliosis -MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 myopathy, congenital, progressive, with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, progressive, with scoliosis +MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 congenital myopathy 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, progressive, with scoliosis MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd60 -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 60, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618587 +MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 60, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies, seizures, and scoliosis -MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies, seizures, and scoliosis MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032826 nephrotic syndrome, type 21 skos:closeMatch OMIM:618594 nephrotic syndrome, iia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs21 -MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sod1 deficiency, autosomal recessive -MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stahp -MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia and axial hypotonia, progressive +MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies, seizures, and scoliosis MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia and axial hypotonia, progressive -MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedhib +MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia and axial hypotonia, progressive +MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sod1 deficiency, autosomal recessive MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities -MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snibfis -MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-fisher syndrome MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-fisher syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 +MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q15 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies -MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q15 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idnadfs -MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower urinary tract obstruction, congenital MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower urinary tract obstruction, congenital -MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luto +MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower urinary tract obstruction, congenital MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618612 -MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luto MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp86 MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618613 MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch OMIM:618618 spondyloepiphyseal dysplasia, nishimura iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedn -MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wska -MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weiss-kruszka syndrome MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weiss-kruszka syndrome -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms4 -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weiss-kruszka syndrome MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmaba +MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies -MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 -MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ns12 +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032839 noonan syndrome 12 skos:exactMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 MONDO:0032839 noonan syndrome 12 skos:closeMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032841 Usher syndrome, type 1M skos:closeMatch OMIM:618632 usher syndrome, iia 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1m MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618632 -MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, developmental delay, and poor growth -MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siddis +MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siddiqi syndrome -MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opml1 MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilfs3 -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618641 -MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf39 -MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 -MONDO:0032846 osteogenesis imperfecta, type 20 skos:closeMatch OMIM:618644 osteogenesis imperfecta, iia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi20 -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd65 MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 65, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch OMIM:618651 halperin-birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies -MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nocgus MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurooculocardiogenitourinary syndrome MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurooculocardiogenitourinary syndrome -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddilf +MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with impaired language and dysmorphic facies MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with impaired language and dysmorphic facies -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocoz -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, with structured cores and z-line abnormalities -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with structured cores and z-line abnormalities -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple structured core disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple structured core disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with structured cores and z-line abnormalities MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpd6 -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618658 MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zls3 -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618658 MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618659 +MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neddfsa -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intractable diarrhea of infancy syndrome -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diar11 -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intractable diarrhea of infancy syndrome MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618662 -MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf40 +MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt72 +MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:closeMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital communicating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf41 -MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddsadf -MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, autism, and dysmorphic facies +MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, autism, and dysmorphic facies +MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfbmft5 -MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdcbm10 MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca5 -MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lskb +MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lessel-kubisch syndrome MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lessel-kubisch syndrome -MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch OMIM:618683 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc5dn6 MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618683 -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and behavioral abnormalities -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddssba MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and behavioral abnormalities +MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and behavioral abnormalities MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618687 MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld19 MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild42 +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp87 -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 -MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild43 -MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssmga +MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and microcephaly with genital anomalies MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and microcephaly with genital anomalies MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with absent language and variable seizures -MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ito-raymond syndrome -MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedalvs MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with absent language and variable seizures +MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ito-raymond syndrome MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures -MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedbas MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures -MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedbash MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia -MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megabladder, congenital -MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgbl MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megabladder, congenital +MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megabladder, congenital MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate oxaloacetate transaminase, mitochondrial, deficiency of MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym got2 deficiency -MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof16 MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 -MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome -MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and impaired intellectual development -MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hesjas -MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddbcs +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures -MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edfaob -MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies -MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:closeMatch OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdist +MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liang-wang syndrome -MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liwas MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liang-wang syndrome -MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vandervore-schot syndrome MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity -MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmcms -MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedbavc +MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies -MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pobinds -MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poirier-bienvenu neurodevelopmental syndrome MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poirier-bienvenu neurodevelopmental syndrome -MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:closeMatch OMIM:618733 neuromuscular oculoauditory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmoas +MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poirier-bienvenu neurodevelopmental syndrome MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anib12 MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 -MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baidcs -MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label structural brain anomalies with impaired intellectual development and craniosynostosis -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pamddfs +MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy -MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedesba MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barakat-perenthaler syndrome -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf42 -MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddhba +MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypotonia and behavioral abnormalities -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 -MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf43 MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like +MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn8 +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 -MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements -MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedhahm +MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catifa syndrome -MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catifa MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catifa syndrome MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts36 MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecd2 MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg81 -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg82 -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lmphm8 +MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cebalid syndrome +MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cebalid syndrome -MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cebalid MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618775 -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc3dn10 MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn34 -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna75 +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css11 -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chtd7 +MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618780 MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild44 MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 -MONDO:0032915 long QT syndrome 16 skos:closeMatch OMIM:618782 long qt syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lqt16 MONDO:0032915 long QT syndrome 16 skos:closeMatch OMIM:618782 long qt syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immas -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagawa-matsumoto syndrome MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imagawa-matsumoto syndrome MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618786 -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagawa-matsumoto syndrome MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna76 +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome -MONDO:0032919 intellectual developmental disorder 62 skos:closeMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd62 MONDO:0032919 intellectual developmental disorder 62 skos:closeMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile arthritis MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile arthritis -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvar -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation -MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedhrit MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation -MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beck-fahrner syndrome MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beck-fahrner syndrome -MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym befahrs -MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scar28 +MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beck-fahrner syndrome MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild45 +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 -MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory papillomatosis, juvenile recurrent, congenital -MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jrrp +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label respiratory papillomatosis, juvenile recurrent, congenital -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandestig-stefanova syndrome -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandstef +MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory papillomatosis, juvenile recurrent, congenital MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome -MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkfcd +MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandestig-stefanova syndrome MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triokinase and fmn cyclase deficiency syndrome MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triokinase and fmn cyclase deficiency syndrome -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlind -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with poor growth and with or without seizures or ataxia -MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idpogsa -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 -MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps18 -MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitourinary and/or brain malformation syndrome MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitourinary and/or brain malformation syndrome -MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gubs MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic limb shortening with dysmorphic features -MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rlsdf MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic limb shortening with dysmorphic features -MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 myopathy, congenital, with respiratory insufficiency and bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, with respiratory insufficiency and bone fractures -MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 myopathy, congenital, with respiratory insufficiency and bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with respiratory insufficiency and bone fractures -MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 myopathy, congenital, with respiratory insufficiency and bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoribf -MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 myopathy, congenital proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital proximal, with minicore lesions -MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 myopathy, congenital proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopmil -MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 myopathy, congenital proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital proximal, with minicore lesions +MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 congenital myopathy 9a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with respiratory insufficiency and bone fractures +MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital proximal, with minicore lesions +MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc8 -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd63 MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp88 +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032941 myopia 27 skos:closeMatch OMIM:618827 myopia 27, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp27 +MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch OMIM:618828 nabais sa-de vries syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch OMIM:618829 nabais sa-de vries syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without hepatic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, congenital MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd4 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3, formerly MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3, formerly +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, congenital +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without hepatic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos1 +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301006 -MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch OMIM:301006 galloway-mowat syndrome 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos2 MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617729 -MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch OMIM:617729 galloway-mowat syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos3 MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617730 -MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch OMIM:617730 galloway-mowat syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos4 MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617731 -MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch OMIM:617731 galloway-mowat syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamos5 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp1 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp2 -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617524 +MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp3 +MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 +MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp4 -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekvp5 -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617756 -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spax8 +MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617560 -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch OMIM:617560 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spax8 -MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 -MONDO:0033044 Meckel syndrome 13 skos:closeMatch OMIM:617562 meckel syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mks13 MONDO:0033044 Meckel syndrome 13 skos:closeMatch OMIM:617562 meckel syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 MONDO:0033045 orofaciodigital syndrome 16 skos:closeMatch OMIM:617563 orofaciodigital syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033045 orofaciodigital syndrome 16 skos:closeMatch OMIM:617563 orofaciodigital syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd16 -MONDO:0033046 Meier-Gorlin syndrome 8 skos:closeMatch OMIM:617564 meier-gorlin syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgors8 -MONDO:0033047 Perrault syndrome 6 skos:closeMatch OMIM:617565 perrault syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prlts6 MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617565 MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617571 -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch OMIM:617571 ichthyosis, congenital, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arci14 -MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:closeMatch OMIM:617574 ichthyosis, congenital, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arci13 -MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:closeMatch OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scar25 -MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:closeMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scar26 MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617572 -MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch OMIM:617572 exudative vitreoretinopathy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evr7 MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618279 -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb106 +MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617637 -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb107 MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 +MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb108 MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617654 -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb57 -MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb109 +MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial steroid-resistant nephrotic syndrome with adrenal insufficiency MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617575 -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch OMIM:617575 nephrotic syndrome, iia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs14 -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild37 -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 37, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617577 +MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 37, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna71 MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617605 MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617606 -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna72 MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna73 MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617663 -MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna34 +MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033262 nephrotic syndrome 15 skos:closeMatch OMIM:617609 nephrotic syndrome, iia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs15 -MONDO:0033280 nephrotic syndrome 16 skos:closeMatch OMIM:617783 nephrotic syndrome, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs16 MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617610 -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch OMIM:617610 polycystic kidney disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd5 -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds5 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617613 -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmds5 MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617622 -MONDO:0033308 Joubert syndrome 30 skos:closeMatch OMIM:617622 joubert syndrome 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts30 -MONDO:0033309 Joubert syndrome 32 skos:closeMatch OMIM:617757 joubert syndrome 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts32 MONDO:0033309 Joubert syndrome 32 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617757 MONDO:0033310 Joubert syndrome 31 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617761 -MONDO:0033310 Joubert syndrome 31 skos:closeMatch OMIM:617761 joubert syndrome 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts31 -MONDO:0033311 Joubert syndrome 33 skos:closeMatch OMIM:617767 joubert syndrome 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jbts33 MONDO:0033311 Joubert syndrome 33 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617767 -MONDO:0033312 schizophrenia 19 skos:closeMatch OMIM:617629 schizophrenia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd19 MONDO:0033312 schizophrenia 19 skos:closeMatch OMIM:617629 schizophrenia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 19 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033352 neuropathy, congenital hypomelinating skos:exactMatch OMIM:600542 NR4A3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chn MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617350 MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617389 MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617391 -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch OMIM:617599 developmental and epileptic encephalopathy 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617599 +MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch OMIM:617599 developmental and epileptic encephalopathy 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617665 MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617830 MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617904 MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617929 MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617938 MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618008 -MONDO:0033375 orofaciodigital syndrome 17 skos:closeMatch OMIM:617926 orofaciodigital syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd17 MONDO:0033375 orofaciodigital syndrome 17 skos:closeMatch OMIM:617926 orofaciodigital syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement -MONDO:0033479 spinocerebellar ataxia 44 skos:closeMatch OMIM:617691 spinocerebellar ataxia 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca44 -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch OMIM:617769 spinocerebellar ataxia 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca45 -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca45 -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch OMIM:617770 spinocerebellar ataxia 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca46 MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch OMIM:617770 spinocerebellar ataxia 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 46, autosomal dominant, with sensory axonal neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca46 -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca47 -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch OMIM:617931 spinocerebellar ataxia 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca47 MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement -MONDO:0033483 erythrocytosis, familial, 5 skos:closeMatch OMIM:617907 erythrocytosis, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt5 -MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:closeMatch OMIM:617895 short-rib thoracic dysplasia 19 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srtd19 MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617899 -MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch OMIM:617899 leukodystrophy, hypomyelinating, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld14 MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617808 -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css6 MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617626 MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch OMIM:617626 fibromatosis, gingival, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch OMIM:617626 fibromatosis, gingival, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingf5 -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch OMIM:617626 fibromatosis, gingival, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggf5 -MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suleiman-el-hattab syndrome MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suleiman-el-hattab syndrome -MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulehs -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd45 +MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suleiman-el-hattab syndrome MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd46 MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd47 -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifng deficiency, autosomal recessive -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd69 +MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd70 -MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod synaptic disorder syndrome, congenital nonprogressive -MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crsds +MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tolchin-le caignec syndrome -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and variable bone defects MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tolchin-le caignec syndrome +MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and variable bone defects MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618971 -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tolcas -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtdps19 MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, infantile-onset, biotin-responsive MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium-dependent multivitamin transporter deficiency MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sodium-dependent multivitamin transporter deficiency -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-ghorbani-weisz-hubshman syndrome -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-ghorbani-weisz-hubshman syndrome -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligows +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, infantile-onset, biotin-responsive +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618974 -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to myod1 deficiency -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myodrif +MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-ghorbani-weisz-hubshman syndrome +MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-ghorbani-weisz-hubshman syndrome +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to myod1 deficiency MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618975 +MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 -MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa12 -MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch OMIM:618982 immunodeficiency 72 with autoinflammation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd72 -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch OMIM:618982 immunodeficiency 72 with autoinflammation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 72 with autoinflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch OMIM:618982 immunodeficiency 72 with autoinflammation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 72 with autoinflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb15 MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, dpm3-related MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618998 -MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, enteritis, colitis, and eosinophilia MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, immune dysregulation, and eosinophilia -MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aiide MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, immune dysregulation, and eosinophilia +MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, enteritis, colitis, and eosinophilia MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with seizures and language delay -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddseld MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with seizures and language delay MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619000 -MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn35 MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 -MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah syndrome -MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities +MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah syndrome MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deeah syndrome MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neddish MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619005 -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp90 +MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 +MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619009 -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd8 -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619011 MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oomd9 +MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619011 MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd48 -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd49 -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd50 +MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddebf MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619031 +MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619044 MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619056 @@ -38993,18 +34286,15 @@ MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatc MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619072 MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619076 -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619081 -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna78 MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619083 -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna79 MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 -MONDO:0033669 Noonan syndrome 13 skos:exactMatch NCIT:C177121 Noonan Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619087 -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb116 +MONDO:0033669 Noonan syndrome 13 skos:exactMatch NCIT:C177121 Noonan Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 @@ -39014,203 +34304,134 @@ MONDO:0033821 fungal keratitis skos:exactMatch NCIT:C128370 Fungal Keratitis sem MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618218 MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 2 semapv:RegularExpressionReplacement MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae1 MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 1 semapv:RegularExpressionReplacement -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch NCIT:C181652 Monoclonal Mast Cell Activation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616471 MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618261 MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618414 -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pebel2 MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618321 -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocskd MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, early-onset, with skeletal and dental anomalies -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoskeletodental syndrome MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 MONDO:0034212 methotrexate toxicity skos:exactMatch NCIT:C81194 Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity -MONDO:0034556 vibratory angioedema skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 -MONDO:0034556 vibratory angioedema skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 MONDO:0034556 vibratory angioedema skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory angioedema MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofd18 MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym didod MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617991 MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch OMIM:604251 calcineurin-binding protein 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cain MONDO:0035450 aprosencephaly skos:exactMatch NCIT:C98824 Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilu syndrome MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoffman syndrome +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilu syndrome MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0035735 acquired hemophilia A skos:exactMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aha MONDO:0035737 acquired factor V deficiency skos:exactMatch NCIT:C131624 Acquired Factor V Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency MONDO:0035738 acquired factor VII deficiency skos:exactMatch NCIT:C131625 Acquired Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency MONDO:0035740 acquired factor XI deficiency skos:exactMatch NCIT:C131627 Acquired Factor XI Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619273 MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619279 -MONDO:0036482 retinitis pigmentosa 81 skos:closeMatch OMIM:617871 retinitis pigmentosa 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp81 -MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:closeMatch OMIM:617866 short-rib thoracic dysplasia 18 with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srtd18 -MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:closeMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmtdig -MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma -MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 +MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma +MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma MONDO:0037747 spinal injury skos:exactMatch NCIT:C50751 Spinal Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal injury MONDO:0037792 carbohydrate metabolism disease skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carbohydrate metabolism disorder semapv:RegularExpressionReplacement MONDO:0037807 glycerol metabolism disease skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342762 MONDO:0037807 glycerol metabolism disease skos:exactMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of glycerol metabolism MONDO:0037821 porphyrin metabolism disease skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of porphyrin and heme metabolism -MONDO:0037829 purine metabolism disease skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism MONDO:0037829 purine metabolism disease skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 +MONDO:0037829 purine metabolism disease skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism MONDO:0037937 pyrimidine metabolism disease skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 MONDO:0037937 pyrimidine metabolism disease skos:exactMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of pyrimidine metabolism -MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria +MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria +MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria -MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement +MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement -MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement +MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement -MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpibd16 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsarth2 +MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617825 -MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch OMIM:617825 glucocorticoid deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccd5 MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcds2 MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617681 MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch NCIT:C34607 Favism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label favism MONDO:0040674 orgasm disorder skos:closeMatch NCIT:C78510 Abnormal Orgasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abnormal orgasm -MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral ischemia MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripheral ischemia +MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral ischemia MONDO:0041182 polymorphic light eruption skos:exactMatch NCIT:C112201 Polymorphous Light Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption MONDO:0042233 disseminated candidiasis skos:closeMatch NCIT:C116813 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label invasive candidiasis -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and carcinoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13-q14 duplication syndrome, type 40-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmps1 +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202700 -MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn1 -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfis1 MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 +MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042970 disorder of glutamate decarboxylase skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 MONDO:0042974 parainfluenza virus type 3 infectious disease skos:closeMatch NCIT:C112317 Human Parainfluenza Virus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human parainfluenza virus type 3 semapv:RegularExpressionReplacement MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mft1 +MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 -MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hokpp1 MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170400 -MONDO:0042980 Westphal disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 -MONDO:0042980 Westphal disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 -MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis -MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042981 aortic valve stenosis skos:exactMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic valve stenosis -MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym as -MONDO:0042981 aortic valve stenosis skos:exactMatch NCIT:C64938 As semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label as +MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis +MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency MONDO:0042983 neurocutaneous syndrome skos:closeMatch NCIT:C84348 Phakomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phakomatosis MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans -MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans MONDO:0043003 familial acanthosis nigricans skos:closeMatch NCIT:C26687 Acanthosis Nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans -MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 -MONDO:0043129 merlob grunebaum reisner syndrome skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931224 +MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thomas-jewett-raines syndrome -MONDO:0043156 nephrotic syndrome ocular anomalies skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 +MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931224 MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931734 -MONDO:0043168 panostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 -MONDO:0043199 short limb dwarf lethal colavita kozlowski type skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 -MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0043219 migraine with brainstem aura skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 +MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0043233 exfoliative dermatitis skos:closeMatch NCIT:C39646 Erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ameloblastic fibro-odontoma MONDO:0043251 odontoma skos:closeMatch NCIT:C3711 Compound Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label compound odontoma -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fs MONDO:0043277 mosaic trisomy 6 skos:closeMatch NCIT:C36475 Trisomy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic cheilitis MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic cheilitis +MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic cheilitis MONDO:0043303 hyperacusis skos:closeMatch NCIT:C122579 Phonophobia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phonophobia MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch NCIT:C113266 ADM semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adm MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch OMIM:103275 ADM semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adm -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch OMIM:103275 ADM semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adm MONDO:0043327 cerebrospinal fluid leak skos:closeMatch NCIT:C50487 Cerebrospinal Fluid Leakage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid leakage MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial -MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly +MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly -MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epxd MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma MONDO:0043452 chromosome 8, trisomy skos:closeMatch NCIT:C36396 Trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain injury MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain injury -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C6827 Chromosomal Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosomal inversion MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C70653 Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inversion -MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ dysfunction syndrome MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C75568 Multiple Organ Failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ failure +MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ dysfunction syndrome MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple organ dysfunction syndrome MONDO:0043731 lytic metastatic bone lesion skos:exactMatch NCIT:C50681 Osteolysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteolysis MONDO:0043797 spinal cord injury skos:exactMatch NCIT:C50750 Spinal Cord Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord injury @@ -39219,250 +34440,153 @@ MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:Lexic MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankle injury MONDO:0043919 radiation pneumonitis skos:closeMatch NCIT:C9436 Radiation Fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiation fibrosis MONDO:0043959 pseudolymphoma skos:closeMatch NCIT:C97078 Benign Lymphoid Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoid hyperplasia -MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label livedo reticularis MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedo reticularis -MONDO:0044203 foveal hypoplasia skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fvh -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label livedo reticularis MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sds1 -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome -MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sds2 +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617941 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osmedb -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osmed -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome, formerly -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osmed +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome -MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245480 -MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency -MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgd1 +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils -MONDO:0044208 specific granule deficiency 2 skos:closeMatch OMIM:617475 specific granule deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgd2 +MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency +MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245480 MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617475 MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prepl deficiency MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616224 -MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms22 MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617100 -MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:closeMatch OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aat11 MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chdfidd MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, dysmorphic facial features, and intellectual developmental disorder -MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:closeMatch OMIM:617364 congenital heart defects and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chded MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617384 MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, mild, non-bh4-deficient MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, mild, non-bh4-deficient -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpanbh4 -MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:closeMatch OMIM:617392 ectodermal dysplasia 13, hair/tooth iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectd13 MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617393 MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym necfm -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs21 MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 +MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch OMIM:617408 diamond-blackfan anemia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba16 MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch OMIM:617409 diamond-blackfan anemia 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba17 MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:closeMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macinnes syndrome -MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:closeMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym btdd MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoskeletal dysplasia with neurodevelopmental abnormalities -MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isdna MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoskeletal dysplasia with neurodevelopmental abnormalities -MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 60 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt60 +MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 60 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617433 -MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch OMIM:617433 retinitis pigmentosa 78 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp78 -MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs7 MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs7, digenic MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:closeMatch OMIM:617441 thrombocytopenia, anemia, and myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thamy -MONDO:0044317 premature ovarian failure 13 skos:closeMatch OMIM:617442 premature ovarian failure 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof13 -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddfsda MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617452 MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617460 -MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch OMIM:617460 retinitis pigmentosa 79 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp79 -MONDO:0044321 structural heart defects and renal anomalies syndrome skos:closeMatch OMIM:617478 structural heart defects and renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shdra -MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:closeMatch OMIM:617532 intellectual developmental disorder with neuropsychiatric features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddnpf -MONDO:0044323 Rahman syndrome skos:closeMatch OMIM:617537 rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rmns -MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al kaissi syndrome MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, spine malformation, dysmorphic facies, and developmental delay MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al kaissi syndrome -MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkas -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch OMIM:617784 fanconi anemia, complementation group w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fancw -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch OMIM:617836 developmental delay and seizures with or without movement abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dedsm +MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al kaissi syndrome MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617836 -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcld4 -MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:closeMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srtd20 -MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch OMIM:617952 osteogenesis imperfecta, iia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi18 -MONDO:0044330 hyperekplexia 4 skos:closeMatch OMIM:618011 hyperekplexia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hkpx4 MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618011 -MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc degeneration, susceptibility to +MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc herniation, susceptibility to -MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10WHO:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10CM:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement -MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy +MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10WHO:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy +MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600166 MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020499 -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601701 -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617743 -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616780 MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 -MONDO:0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616921 MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskinesia, limb and orofacial, infantile-onset MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinesia, limb and orofacial, infantile-onset -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iolod -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the hypopharynx -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:exactMatch OMIM:617017 charcot-marie-tooth disease, axonal, iia 2t semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2t -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616881 MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617193 -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617114 -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gershoni-baruch syndrome -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617207 -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient reactive papulotranslucent acrokeratoderma MONDO:0044688 isolated optic neuritis skos:exactMatch NCIT:C597 Ion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ion MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain atrophy and spasticity -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617669 MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain atrophy and spasticity -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pebas -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pebas -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym condba -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with brain atrophy +MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617669 MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with brain atrophy +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with brain atrophy MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301018 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the oropharynx -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the nasal cavity and paranasal sinuses -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of oral cavity and lip -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, mitochondrial, and ataxia -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmyat MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617675 -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, progressive, early childhood-onset -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pldeco +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, mitochondrial, and ataxia MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, progressive, early childhood-onset +MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, progressive, early childhood-onset MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617762 MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614575 -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch OMIM:617514 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd52 +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch OMIM:617514 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch OMIM:617514 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617698 -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch OMIM:617698 3-methylglutaconic aciduria, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgca9 -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd55 -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617595 -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-landau-perez syndrome MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birk-landau-perez syndrome -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilapes -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gadevs -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-landau-perez syndrome +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617595 MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of salivary glands +MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prekallikrein deficiency -MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prekallikrein deficiency -MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nervous system injury MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nervous system injury -MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lumbar spinal stenosis +MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nervous system injury MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lumbar spinal stenosis -MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs2 +MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lumbar spinal stenosis MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive -MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:604766 NPHS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nphs2 -MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:604766 NPHS2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs2 -MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menopause, natural, age at, quantitative trait locus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof10 -MONDO:0044777 premature ovarian failure 14 skos:closeMatch OMIM:618014 premature ovarian failure 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof14 +MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menopause, natural, age at, quantitative trait locus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334968 -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented moles +MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus spilus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanocytic nevus syndrome, congenital -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanocytic nevus syndrome, congenital -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spitz nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmns -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318558 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital melanocytic nevus MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137550 -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:603930 GPHN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gphn -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:603930 GPHN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gphn +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented moles MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842036 -MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitz nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanocytic nevus syndrome, congenital +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanocytic nevus syndrome, congenital +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spitz nevus MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spitz nevus -MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans -MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitz nevus MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia MONDO:0044871 dystonia, focal, task-specific skos:closeMatch OMIM:611284 dystonia, focal, task-specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musicians dystonia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044874 refractory cytopenia of childhood skos:exactMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcc -MONDO:0044874 refractory cytopenia of childhood skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcc -MONDO:0044875 coronary microvascular disorder skos:exactMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd -MONDO:0044875 coronary microvascular disorder skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd MONDO:0044876 drug hypersensitivity syndrome skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drug reaction with eosinophilia and systemic symptoms -MONDO:0044876 drug hypersensitivity syndrome skos:exactMatch OMIM:304350 deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhs MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paraneoplastic cerebellar degeneration -MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelofibrosis +MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis MONDO:0044970 mitochondrial disease skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -39476,299 +34600,204 @@ MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/ecla MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toxemia of pregnancy MONDO:0045050 nuclear cataract skos:exactMatch NCIT:C135176 Nuclear Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nuclear cataract MONDO:0045051 cortical cataract skos:exactMatch NCIT:C135177 Cortical Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical cataract -MONDO:0045057 delirium skos:exactMatch NCIT:C2981 Delirium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delirium MONDO:0045057 delirium skos:closeMatch NCIT:C34868 Organic Brain Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic brain syndrome MONDO:0045057 delirium skos:narrowMatch ICD10WHO:F05.8 Other delirium semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym delirium semapv:RegularExpressionReplacement -MONDO:0049221 myopia 26, X-linked, female-limited skos:closeMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myp26 -MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 +MONDO:0045057 delirium skos:exactMatch NCIT:C2981 Delirium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delirium MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0049223 osteogenesis imperfecta, type 19 skos:closeMatch OMIM:301014 osteogenesis imperfecta, iia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi19 -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch OMIM:617370 peroxisome biogenesis disorder 10b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbd10b +MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anfh1 +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608805 MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of -MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch OMIM:617383 avascular necrosis of femoral head, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anfh2 +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617383 -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch OMIM:617395 congenital disorder of glycosylation, iia iiq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg2q -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch OMIM:617395 congenital disorder of glycosylation, iia iiq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iiq MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617395 MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anxd1 MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 -MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch OMIM:617396 anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anxd2 -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srtd17 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 +MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:closeMatch OMIM:617435 lopes-maciel-rodan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lomars -MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch OMIM:617443 bleeding disorder, platelet-type, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdplt21 MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617443 -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbs1 +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617466 -MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch OMIM:617466 townes-brocks syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbs2 -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch OMIM:617506 noonan syndrome-like disorder with loose anagen hair 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nslh2 -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054591 Stankiewicz-Isidor syndrome skos:closeMatch OMIM:617516 stankiewicz-isidor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiss -MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch OMIM:617520 microcephaly 18, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph18 +MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617520 -MONDO:0054601 pituitary adenoma 5, multiple types skos:closeMatch OMIM:617540 pituitary adenoma 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita5 MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617542 -MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hgpps2 MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617576 -MONDO:0054615 spermatogenic failure 18 skos:closeMatch OMIM:617576 spermatogenic failure 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf18 -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch OMIM:617616 skraban-deardorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skdeas MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch OMIM:617616 skraban-deardorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability with seizures, abnormal gait, and distinctive facial features MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617616 -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tosti syndrome -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:closeMatch OMIM:617664 combined oxidative phosphorylation deficiency 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd32 -MONDO:0054665 pituitary adenoma 3, multiple types skos:closeMatch OMIM:617686 pituitary adenoma 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita3 -MONDO:0054666 ovarian dysgenesis 5 skos:closeMatch OMIM:617690 ovarian dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg5 +MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 -MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:closeMatch OMIM:617713 combined oxidative phosphorylation deficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd33 -MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch OMIM:617719 epiphyseal dysplasia, multiple, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edm7 -MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvid14 -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 +MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnm6 -MONDO:0054696 immunodeficiency 53 skos:closeMatch OMIM:617585 immunodeficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd53 -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd11b +MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nakajo-nishimura syndrome +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 1, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proteasome-associated autoinflammatory syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteasome-associated autoinflammatory syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jmp syndrome MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym praas3 MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 -MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch OMIM:618048 proteasome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym praas2 -MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch OMIM:617768 kleefstra syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klefs2 MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617768 -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp80 -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617781 MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph19 MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617800 -MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gphysd3 +MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617809 -MONDO:0054723 spermatogenic failure 19 skos:closeMatch OMIM:617592 spermatogenic failure 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf19 MONDO:0054723 spermatogenic failure 19 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617592 -MONDO:0054724 spermatogenic failure 20 skos:closeMatch OMIM:617593 spermatogenic failure 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf20 MONDO:0054724 spermatogenic failure 20 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617593 -MONDO:0054725 spermatogenic failure 21 skos:closeMatch OMIM:617644 spermatogenic failure 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf21 MONDO:0054726 spermatogenic failure 22 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617706 -MONDO:0054726 spermatogenic failure 22 skos:closeMatch OMIM:617706 spermatogenic failure 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf22 -MONDO:0054727 spermatogenic failure 23 skos:closeMatch OMIM:617707 spermatogenic failure 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf23 MONDO:0054727 spermatogenic failure 23 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617707 -MONDO:0054728 spermatogenic failure 24 skos:closeMatch OMIM:617959 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf24 -MONDO:0054729 spermatogenic failure 25 skos:closeMatch OMIM:617960 spermatogenic failure 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf25 MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617960 -MONDO:0054730 spermatogenic failure 26 skos:closeMatch OMIM:617961 spermatogenic failure 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf26 MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 -MONDO:0054731 spermatogenic failure 27 skos:closeMatch OMIM:617965 spermatogenic failure 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf27 -MONDO:0054732 spermatogenic failure 28 skos:closeMatch OMIM:618086 spermatogenic failure 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf28 MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 -MONDO:0054733 spermatogenic failure 29 skos:closeMatch OMIM:618091 spermatogenic failure 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf29 MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva3 MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frasrs1 -MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraser syndrome +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch NCIT:C118436 Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome -MONDO:0054738 Fraser syndrome 2 skos:closeMatch OMIM:617666 fraser syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frasrs2 +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 +MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0054738 Fraser syndrome 2 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617666 MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617667 -MONDO:0054739 Fraser syndrome 3 skos:closeMatch OMIM:617667 fraser syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frasrs3 MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcds1 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lagophthalmia with bilateral cleft type 51p and palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lagophthalmia with bilateral cleft type 51p and palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617872 -MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch OMIM:617872 combined oxidative phosphorylation deficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd34 -MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:closeMatch OMIM:617873 combined oxidative phosphorylation deficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd35 -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch OMIM:617874 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcld3 MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group s MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group s -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fancs +MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group s MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als24 -MONDO:0054752 multiple synostoses syndrome 4 skos:closeMatch OMIM:617898 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syns4 MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iiae8 MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617914 -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph20 -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:closeMatch OMIM:617916 neurodegeneration with brain iron accumulation 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbia7 -MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:closeMatch OMIM:617917 neurodegeneration with brain iron accumulation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbia8 +MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617914 +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plca3 MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 +MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd18 -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd18 -MONDO:0054771 keratoconus 9 skos:closeMatch OMIM:617928 keratoconus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktcn9 MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffevf4 MONDO:0054780 elliptocytosis 3 skos:closeMatch OMIM:617948 elliptocytosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, perinatal hemolytic, fatal or near-fatal -MONDO:0054780 elliptocytosis 3 skos:closeMatch OMIM:617948 elliptocytosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym el3 MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617948 -MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:closeMatch OMIM:617950 combined oxidative phosphorylation deficiency 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd36 -MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:closeMatch OMIM:617951 leukodystrophy, hypomyelinating, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld15 MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617954 -MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:closeMatch OMIM:617964 leukodystrophy, hypomyelinating, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld16 -MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, nonsyndromic, autosomal recessive type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyc3 -MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt6 -MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, nonsyndromic, autosomal recessive type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecyt7 +MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph21 MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617983 -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph22 MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617984 -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcph23 +MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617985 +MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 -MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:closeMatch OMIM:618006 leukodystrophy, hypomyelinating, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hld17 -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css7 -MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcd4 +MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch OMIM:618036 charcot-marie-tooth disease, axonal, iia 2dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2dd MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618036 -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2dd MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 -MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkdys2 MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd57 -MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:closeMatch OMIM:618052 cardiomyopathy, familial hypertrophic, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh27 MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618061 -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd6 -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild38 MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 -MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch OMIM:618065 pontocerebellar hypoplasia, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1d MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fame6 MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fame7 +MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054849 inflammatory bowel disease 29 skos:closeMatch OMIM:618077 inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd29 MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618078 -MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch OMIM:618078 ovarian dysgenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odg6 MONDO:0054852 peeling skin syndrome 6 skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 -MONDO:0054852 peeling skin syndrome 6 skos:closeMatch OMIM:618084 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pss6 -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfnb110 -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618094 +MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt63 -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054862 premature ovarian failure 15 skos:closeMatch OMIM:618096 premature ovarian failure 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof15 -MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium ileus -MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meconium ileus +MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium ileus -MONDO:0054869 nondystrophic myotonia skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndm -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meconium ileus +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym germinal cell aplasia +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sertoli cell-only syndrome -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617523 MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder semapv:RegularExpressionReplacement MONDO:0056822 amyotonia congenita skos:closeMatch OMIM:205000 amyotonia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oppenheim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -39777,220 +34806,133 @@ MONDO:0060455 X-linked congenital hemolytic anemia skos:closeMatch OMIM:301015 h MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302700 MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with arthritis and dyskeratosis MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with arthritis and dyskeratosis -MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aiadk MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sry-negative -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srxx4 +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sry-negative MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617481 -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nmihba -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch OMIM:617493 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedim MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:closeMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with neuropathy and deafness -MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:closeMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedhnd -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndmsba MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617527 -MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch OMIM:617547 retinal dystrophy with or without macular staphyloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rdms MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617561 -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch OMIM:617561 cohen-gibson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cogis -MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersuccinylacetonemia, mild -MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypersuccinylacetonemia MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maai deficiency -MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maaid -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch OMIM:617602 congenital heart defects and skeletal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chdskm +MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypersuccinylacetonemia +MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersuccinylacetonemia, mild MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617604 -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym missla -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch OMIM:617604 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym missla -MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cakuthed -MONDO:0060550 polydactyly, postaxial, type a7 skos:closeMatch OMIM:617642 polydactyly, postaxial, iia a7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa7 -MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:closeMatch OMIM:617643 cerebellar atrophy, developmental delay, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cadeds -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vcrl1 MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyanthranilic acidemia MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617660 +MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, complete MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vcrl2 -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch OMIM:617662 joint laxity, short stature, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jlsm MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617662 MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:closeMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:closeMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nelaba -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617671 MONDO:0060564 HELIX syndrome skos:closeMatch OMIM:617671 helix syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia -MONDO:0060564 HELIX syndrome skos:exactMatch NCIT:C47937 Helix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label helix -MONDO:0060564 HELIX syndrome skos:exactMatch NCIT:C32724 Helix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label helix +MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617671 MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay and speech apraxia with or without seizures -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilbos MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617682 -MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmas MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617709 -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemmlas MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617710 -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auditory neuropathy and optic atrophy +MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617717 -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anoa -MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:closeMatch OMIM:617721 neuronopathy, distal hereditary motor, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn9 -MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:closeMatch OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fpvepd -MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:closeMatch OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imddhh -MONDO:0060592 Sweeney-Cox syndrome skos:closeMatch OMIM:617746 sweeney-cox syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym swcos MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neddfl -MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cimah MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate dehydrogenase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:closeMatch OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndmsca -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch OMIM:617804 neurodevelopmental disorder with severe motor impairment and absent language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmial -MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:closeMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:closeMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter -MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:closeMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndagscw +MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:closeMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617810 MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, epilepsy, cerebellar atrophy, and osteopenia -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpibd15 -MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:closeMatch OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndhmsr MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617822 -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch OMIM:617822 alkuraya-kucinskas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkkucs -MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmeba -MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:closeMatch OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedsga -MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:closeMatch OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmaga -MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:closeMatch OMIM:617879 leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcaeod -MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:closeMatch OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndplhs MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617903 -MONDO:0060662 Diamond-Blackfan anemia-like skos:closeMatch OMIM:617911 diamond-blackfan anemia-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbal MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chtd5 -MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:closeMatch OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedmcr -MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:closeMatch OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddts -MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als25 -MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch OMIM:617924 epilepsy, juvenile myoclonic, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ejm10 MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617924 MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:closeMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of t4 -MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arene oxide detoxification defect +MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal hydantoin syndrome +MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arene oxide detoxification defect MONDO:0060690 phenytoin toxicity skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome -MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome -MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:closeMatch OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semddr -MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:closeMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedsbas MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:closeMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elhattab-alkuraya syndrome -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch OMIM:617982 ververi-brady syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verbras MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617982 -MONDO:0060711 Jaberi-Elahi syndrome skos:closeMatch OMIM:617988 jaberi-elahi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jabels -MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:closeMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dche -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hftc2 MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617993 MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617994 -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hftc3 -MONDO:0060720 congenital disorder of glycosylation with defective fucosylation skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf -MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:closeMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpibd17 -MONDO:0060729 protoporphyria, erythropoietic, 2 skos:closeMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epp2 -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch OMIM:618021 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetams2 MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch OMIM:618021 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome type 2 with pulmonary agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:closeMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfhrtrd -MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:closeMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhrrd -MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:closeMatch OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddeca -MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:closeMatch OMIM:618076 neurodevelopmental disorder with spasticity and poor growth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedsg -MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:closeMatch OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sca42nd MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedamss MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with dysmorphic facies and behavioral abnormalities -MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddfba -MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:closeMatch OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedehcc -MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddsfta -MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetams1 MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult fanconi syndrome MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult fanconi syndrome -MONDO:0100001 alpha-gal syndrome skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ags -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 +MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mast cell activation syndrome semapv:RegularExpressionReplacement MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mast cell activation disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100014 autoimmune retinopathy skos:exactMatch NCIT:C73434 Air semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label air -MONDO:0100014 autoimmune retinopathy skos:exactMatch OMIM:601676 acute insulin response semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym air -MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pityriasis rubra pilaris MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 -MONDO:0100017 pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 +MONDO:0100017 pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris +MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pityriasis rubra pilaris MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy of infancy with migrating focal seizures MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complex neurodevelopmental disorder MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex neurodevelopmental disorder -MONDO:0100039 CDKL5 disorder skos:closeMatch OMIM:300203 CDKL5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cdkl5 -MONDO:0100039 CDKL5 disorder skos:closeMatch OMIM:300203 CDKL5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdkl5 -MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115080 MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac conduction defect MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cardiac conduction defect +MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115080 MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201180 MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226400 -MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation of the lens MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation glaucoma +MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation of the lens MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation syndrome MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 MONDO:0100050 Usher syndrome, type 1D/F skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0100053 anaphylaxis skos:exactMatch NCIT:C50460 Anaphylactic Shock semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anaphylactic shock MONDO:0100059 hypereosinophilia of undetermined significance skos:exactMatch NCIT:C185725 Hypereosinophilia of Undetermined Significance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilia of undetermined significance -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116529 Infantile Spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile spasm -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116552 Early Infantile Epileptic Encephalopathy with Burst-Suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy with burst-suppression +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 +MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116529 Infantile Spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile spasm MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tyrosine hydroxylase deficiency +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100075 jaw fracture skos:exactMatch NCIT:C26803 Jaw Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jaw fracture -MONDO:0100077 congenital alveolar dysplasia skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cad -MONDO:0100077 congenital alveolar dysplasia skos:exactMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cad -MONDO:0100077 congenital alveolar dysplasia skos:exactMatch OMIM:114010 CAD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cad -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607208 MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch NCIT:C116573 Dravet Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607208 MONDO:0100081 sleep disorder skos:closeMatch NCIT:C94836 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151100 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fpdmm -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, aspirin-like +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet disorder, familial, with associated myeloid malignancy +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, aspirin-like MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, familial, with associated myeloid malignancy -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thrombocytopenia with propensity to acute myelogenous leukemia -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fpdmm MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601399 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy -MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal disorder semapv:RegularExpressionReplacement +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thrombocytopenia with propensity to acute myelogenous leukemia MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perinatal disorder +MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal disorder semapv:RegularExpressionReplacement MONDO:0100087 familial Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100093 myoclonus, familial, 1 skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614937 -MONDO:0100094 cannabinoid hyperemesis syndrome skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chs MONDO:0100096 COVID-19 skos:closeMatch NCIT:C113207 Betacoronavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label betacoronavirus MONDO:0100098 dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive skos:exactMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive -MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch OMIM:606148 FADS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fads1 -MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch OMIM:606148 FADS1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fads1 MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208150 -MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch OMIM:606149 FADS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fads2 -MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch OMIM:606149 FADS2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fads2 MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618388 -MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch OMIM:606150 FADS3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fads3 -MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch OMIM:606150 FADS3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fads3 MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618389 MONDO:0100104 fetal akinesia deformation sequence 4 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618393 MONDO:0100115 acute flaccid myelitis skos:exactMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0100115 acute flaccid myelitis skos:exactMatch OMIM:104145 AFM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afm -MONDO:0100115 acute flaccid myelitis skos:exactMatch OMIM:104145 AFM semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label afm MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3694279 MONDO:0100118 genetic skin disorder skos:exactMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genodermatosis MONDO:0100119 Knobloch syndrome 2 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618458 @@ -39998,52 +34940,44 @@ MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym p5cs deficiency MONDO:0100129 intracranial arachoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207790 MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936907 -MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome -MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751122 -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ds -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome -MONDO:0100137 telomere syndrome skos:exactMatch OMIM:300747 STS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sts -MONDO:0100137 telomere syndrome skos:exactMatch OMIM:300747 STS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sts +MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome MONDO:0100137 telomere syndrome skos:exactMatch NCIT:C152065 Telomere Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telomere syndrome MONDO:0100144 Uner Tan Syndrome skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uner tan syndrome -MONDO:0100151 nephropathic cystinosis skos:exactMatch OMIM:606272 CTNS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ctns MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 -MONDO:0100151 nephropathic cystinosis skos:exactMatch OMIM:606272 CTNS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctns MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261100 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618882 MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833104 -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 +MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 MONDO:0100168 desmoid tumor caused by somatic mutation skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoid tumor caused by somatic mutation -MONDO:0100169 polyneuropathy, inflammatory demyelinating, chronic skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cidp MONDO:0100169 polyneuropathy, inflammatory demyelinating, chronic skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyneuropathy, inflammatory demyelinating, chronic MONDO:0100173 leukemia, acute myeloid, susceptibility to skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukemia, acute myeloid, susceptibility to MONDO:0100181 dermatitis, atopic, 1 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermatitis, atopic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radioulnar synostosis, nonsyndromic, susceptibility to +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179300 -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ird +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency MONDO:0100185 immune reconstitution inflammatory syndrome skos:closeMatch NCIT:C125712 Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label immune reconstitution inflammatory syndrome associated with kaposi sarcoma -MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch NCIT:C12737 Iris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label iris -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpabh4b +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268467 +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268467 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 MONDO:0100187 opioid-induced constipation skos:exactMatch NCIT:C148034 Opioid-Induced Constipation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opioid-induced constipation @@ -40054,18 +34988,17 @@ MONDO:0100202 lumbar disc herniation, susceptibility to skos:exactMatch OMIM:603 MONDO:0100206 lumbar disc degeneration, susceptibility to skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lumbar disc degeneration, susceptibility to MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 MONDO:0100212 IFAP syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ifap syndrome -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rajab interstitial lung disorder with brain calcifications semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613658 MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rajab syndrome -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphthamide deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dedssh2 +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphthamide deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619013 @@ -40074,334 +35007,260 @@ MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psoriatic arthritis, susceptibility to MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriatic arthritis, susceptibility to +MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psoriatic arthritis, susceptibility to +MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0100233 long COVID-19 skos:exactMatch NCIT:C179263 Post-Acute Sequelae of COVID-19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label post-acute sequelae of covid-19 -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ivf -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024790 MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034042 +MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024790 MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx male, sry-positive +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 +MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100250 46,XX sex reversal 1 skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx true hermaphroditism, sry-positive -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement +MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipocalcinogranulomatosis -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis with hyperphosphatemia MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with hyperphosphatemia +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis with hyperphosphatemia +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipocalcinogranulomatosis MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morbus teutschlaender -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 +MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudothalidomide syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome +MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614300 MONDO:0100255 adenosine kinase deficiency skos:closeMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency -MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gnpat deficiency +MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agps deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 +MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047801 MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153600 MONDO:0100282 SC phocomelia syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sc phocomelia syndrome -MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic biliary atresia MONDO:0100285 extrahepatic biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210500 +MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic biliary atresia MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis with early nyctalopia -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escs -MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome +MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enhanced s-cone syndrome -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favre hyaloideoretinal degeneration +MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym goldmann-favre syndrome -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carey-fineman-ziter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favre hyaloideoretinal degeneration +MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619941 MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfzs2 -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate coq reductase deficiency +MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carey-fineman-ziter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate dehydrogenase deficiency +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate coq reductase deficiency MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 +MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 -MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma, hereditary capillary +MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 +MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma, capillary infantile +MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma, hereditary capillary MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemangioma, capillary infantile -MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hci MONDO:0100308 atactic disorder skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039211 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 +MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 +MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 +MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch OMIM:184260 odontochondrodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184260 +MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch OMIM:184260 odontochondrodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta +MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glanzmann thrombasthenia +MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glanzmann thrombasthenia MONDO:0100327 hypercholanemia, familial skos:exactMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypercholanemia MONDO:0100330 disease arising from reactivation of latent virus skos:exactMatch NCIT:C9494 Latent Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label latent infection MONDO:0100338 urinary tract infection skos:exactMatch NCIT:C50791 Urinary Tract Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frda -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fa MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017374 -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 +MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 MONDO:0100339 Friedreich ataxia skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fa -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frda -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 MONDO:0100342 malignant glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018338 -MONDO:0100344 Bartter disease type 1 skos:exactMatch NCIT:C178412 Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300971 +MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 MONDO:0100344 Bartter disease type 1 skos:closeMatch OMIM:601678 bartter syndrome, iia 1, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 1, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 MONDO:0100344 Bartter disease type 1 skos:exactMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 +MONDO:0100344 Bartter disease type 1 skos:exactMatch NCIT:C178412 Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 +MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement -MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement -MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement -MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence -MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carcinoid tumors, intestinal +MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumors, intestinal +MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carcinoid tumors, intestinal MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619091 -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857662 -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619111 MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619113 -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216360 MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coach syndrome -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial paroxysmal -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekd1 -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic choreoathetosis +MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857662 MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249210 -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155310 +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic choreoathetosis +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial paroxysmal MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608393 -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249210 +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca2 -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp20 MONDO:0100428 progressive bulbar palsy of childhood skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211500 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophic myotonia MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs1 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophic myotonia MONDO:0100436 cataract 2, multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604307 -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp3 +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinal ciliopathy due to mutation in the rpgr gene +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinal ciliopathy due to mutation in the rpgr gene -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cordx1 -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca4 -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related -MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder ixa2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd ixa2 -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder ixa2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cacd1 -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cord6 MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp2 -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:300757 RP2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rp2 +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:300757 RP2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp2 +MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement -MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus -MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens +MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym västerbotten dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nfrcd +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca5 MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:611408 LCA5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca5 -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:611408 LCA5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lca5 -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym total colorblindness with myopia +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia with myopia +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia with myopia -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm3 -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm7 MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement +MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement -MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement -MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cord18 -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pcarp MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia-retinitis pigmentosa syndrome -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym axpc1 MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive posterior column ataxia and retinitis pigmentosa MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pcarp MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia with retinitis pigmentosa MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193235 -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca10 -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym slsn6 +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym jbts5 -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bbs14 -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mks4 -MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100452 RPE65-related dominant retinopathy skos:exactMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp87 -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:118960 CLTA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca1 -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cord6 -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 @@ -40413,55 +35272,51 @@ MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 A MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189800 -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 +MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome +MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain malformations with or without urinary tract defects MONDO:0100478 brain malformations with or without urinary tract defects skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613735 +MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain malformations with or without urinary tract defects MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune adrenalitis MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch NCIT:C128417 Extensively Drug-Resistant Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensively drug-resistant tuberculosis MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hdgc -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse gastric and lobular breast cancer syndrome -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dglbc +MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 +MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric cancer, hereditary diffuse MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric cancer, familial diffuse breast cancer, lobular +MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse gastric and lobular breast cancer syndrome MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse gastric and lobular breast cancer syndrome -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric cancer, hereditary diffuse -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch NCIT:C118459 Amastia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amastia +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amastia +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113700 -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amastia -MONDO:0100491 generalized pustular psoriasis skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym generalized pustular psoriasis MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 +MONDO:0100491 generalized pustular psoriasis skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym generalized pustular psoriasis MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis -MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label limb body wall complex MONDO:0100501 body-stalk anomaly skos:exactMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym body stalk anomaly +MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label limb body wall complex MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100515 mirror movements 1 and/or agenesis of the corpus callosum skos:exactMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0400004 phrynoderma skos:exactMatch NCIT:C112827 Phrynoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phrynoderma -MONDO:0600008 cytokine release syndrome skos:exactMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crs -MONDO:0600008 cytokine release syndrome skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crs -MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy +MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C78293 Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fallopian tube obstruction -MONDO:0700001 shrinking lung syndrome skos:exactMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sls MONDO:0700005 idiopathic skos:exactMatch NCIT:C28242 Idiopathic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic MONDO:0700035 monosomy chromosome 8 skos:closeMatch NCIT:C36535 Loss of Chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beec MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838703 +MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex +MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613013 -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency +MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700048 hand-foot syndrome skos:exactMatch NCIT:C27177 Palmar-Plantar Erythrodysthesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmar-plantar erythrodysthesia MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morton neuroma MONDO:0700062 mosaic skos:exactMatch NCIT:C88144 Mosaic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic @@ -40473,30 +35328,29 @@ MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-co MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfb deficiency MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfdh deficiency -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant ards MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rds of prematurity +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035220 MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020192 +MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rds of prematurity MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robertsonian translocation down syndrome MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal non-kinesigenic dyskinesia -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065658 -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, nonkinesigenic MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnkd1 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mount-reback syndrome +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065658 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, familial paroxysmal +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, nonkinesigenic +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600512 MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613026 @@ -40505,85 +35359,81 @@ MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch OMIM:193235 vitreo MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch NCIT:C130986 Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700126 trisomy 21 skos:exactMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700126 trisomy 21 skos:exactMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label group b streptococcal infection -MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges +MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haddad syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddad syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchs with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221820 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711381 MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847627 MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606703 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 -MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis, idiopathic -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fipa MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406585 MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275210 -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 +MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406585 +MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432240 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 +MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601559 -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432240 +MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615273 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609698 MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613112 MONDO:0800096 abnormal mineralization disorder skos:closeMatch NCIT:C26838 Osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomalacia -MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp33 MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca13 +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca13 MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca9 -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm2 +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216360 MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive @@ -40595,52 +35445,43 @@ MONDO:0800113 necrotizing vasculitis skos:exactMatch NCIT:C70635 Necrotizing Vas MONDO:0800120 Mac-Leod-Swyer-James-Syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs MONDO:0800133 pulmonary hypoplasia skos:exactMatch NCIT:C99035 Pulmonary Hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypoplasia MONDO:0800166 Knobloch syndrome skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal detachment and occipital encephalocele MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kno +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal detachment and occipital encephalocele +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 MONDO:0800175 cardiogenic shock skos:exactMatch NCIT:C50482 Cardiogenic Shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007625 +MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613002 MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achalasia-alacrima syndrome -MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aaas -MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:605378 AAAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aaas -MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:605378 AAAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aaas MONDO:0800196 achromatopsia 5 skos:exactMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800196 achromatopsia 5 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800197 achromatopsia 6 skos:exactMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800198 alopecia universalis skos:exactMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis MONDO:0800198 alopecia universalis skos:exactMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alopecia universalis +MONDO:0800198 alopecia universalis skos:exactMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis MONDO:0800199 Angelman syndrome chromosome region skos:exactMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angelman syndrome chromosome region MONDO:0800201 baldness, male pattern skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baldness, male pattern MONDO:0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia MONDO:0800206 epidermolysis bullosa dystrophica with subcorneal cleavage skos:exactMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage MONDO:0800207 neuropathy, small fiber skos:exactMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuropathy, small fiber MONDO:0800209 fibrosis of extraocular muscles, congenital, 3b skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch OMIM:606761 MLYCD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd -MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcd MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multicentric castleman disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800222 pelvic organ prolapse, susceptibility to, 1 skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800226 strabismus, susceptibility to, 1 skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800250 Graves disease, susceptibility to, X-linked 2 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800261 autoimmune thyroid disease, susceptibility to, 5 skos:exactMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch NCIT:C101029 Atrioventricular Septal Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avsd MONDO:0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800274 autoimmune disease, susceptibility to, 5 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800275 autism, susceptibility to, 14a skos:exactMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism, susceptibility to, type 14a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -40648,7 +35489,6 @@ MONDO:0800279 epilepsy, idiopathic generalized, susceptibility to, 6 skos:exactM MONDO:0800287 autism, susceptibility to, 14b skos:exactMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism, susceptibility to, type 14b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800290 Li-fraumeni-like syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni-like syndrome MONDO:0800294 progressive encephalomyelitis with rigidity skos:exactMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive encephalomyelitis with rigidity -MONDO:0800294 progressive encephalomyelitis with rigidity skos:exactMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perm MONDO:0800296 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcornea, rod-cone dystrophy, cataract, and posterior staphyloma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lincl @@ -40658,8 +35498,8 @@ MONDO:0800299 myopathy, congenital, with excess of muscle spindles skos:exactMat MONDO:0800300 black locks with albinism and deafness syndrome skos:exactMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym black locks with albinism and deafness syndrome MONDO:0800301 Friedreich ataxia with retained reflexes skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia with retained reflexes MONDO:0800302 glycogen storage disease Id skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder id semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800306 epilepsy, progressive myoclonic, 2b skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800307 de la Chapelle dysplasia skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym de la chapelle dysplasia MONDO:0800308 orotic aciduria without megaloblastic anemia skos:exactMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orotic aciduria without megaloblastic anemia @@ -40675,22 +35515,20 @@ MONDO:0800323 long QT syndrome 4 skos:exactMatch OMIM:600919 cardiac arrhythmia, MONDO:0800324 microphthalmia, isolated, with coloboma 8 skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia, isolated, with coloboma type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800326 cone-rod dystrophy 14 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800328 retinitis pigmentosa 94, variable age at onset skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 94, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800330 myoclonic epilepsy, juvenile, 2 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800331 hyperglycinemia, transient neonatal skos:exactMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperglycinemia, transient neonatal MONDO:0800335 migraine, familial hemiplegic, 4 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800337 acute tubulointerstitial nephritis skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute tubulointerstitial nephritis MONDO:0800339 laryngospasm, severe neonatal episodic skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngospasm, severe neonatal episodic -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 myopathy, congenital, with fiber-type disproportion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cftd -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 myopathy, congenital, with fiber-type disproportion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital, with fiber-type disproportion -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 myopathy, congenital, with fiber-type disproportion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fiber-type disproportion myopathy, congenital -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 myopathy, congenital, with fiber-type disproportion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, congenital, with fiber-type disproportion -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cftdm -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:609284 nemaline myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nem1 +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy type 4a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital myopathy type 4a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital, with fiber-type disproportion +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fiber-type disproportion myopathy, congenital +MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255310 MONDO:0800342 cap myopathy 2 skos:exactMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800344 brachydactyly-syndactyly-oligodactyly syndrome skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome MONDO:0800345 atrial fibrillation, familial, 17 skos:exactMatch OMIM:611819 long qt syndrome 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrial fibrillation, familial, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -40731,8 +35569,8 @@ MONDO:0800388 cardiac glycoside intoxication skos:closeMatch NCIT:C34539 Digital MONDO:0800408 urogenital adysplasia skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urogenital adysplasia MONDO:0800409 ventricular fibrillation during myocardial infarction, susceptibility to skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to MONDO:0800410 UV-induced skin damage, susceptibility to skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uv-induced skin damage, susceptibility to -MONDO:0800412 yakut short stature syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome MONDO:0800412 yakut short stature syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome +MONDO:0800412 yakut short stature syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome MONDO:0800413 antisocial behavior, susceptibility to skos:exactMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym antisocial behavior, susceptibility to MONDO:0800414 aplastic anemia, susceptibility to skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia, susceptibility to MONDO:0800415 asthma, aspirin-induced, susceptibility to skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asthma, aspirin-induced, susceptibility to @@ -40752,41 +35590,38 @@ MONDO:0800428 dengue shock syndrome, susceptibility to skos:exactMatch OMIM:6143 MONDO:0800429 dyslexia, susceptibility to, 4 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800430 dyslexia, susceptibility to, 7 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym efavirenz central nervous system toxicity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800433 ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800434 ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800435 ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfsmr1 MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pascual-castroviejo syndrome type 1 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrofaciothoracic dysplasia MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrofaciothoracic dysplasia +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850746 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfzs MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital nonprogressive, with moebius sequence and robin sequence MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850746 -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfzs1 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dedssh1 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital nonprogressive, with moebius sequence and robin sequence +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia @@ -40795,14 +35630,14 @@ MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia -MONDO:0850046 amniotic fluid embolism skos:exactMatch NCIT:C111911 Amniotic Fluid Embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism MONDO:0850046 amniotic fluid embolism skos:exactMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism +MONDO:0850046 amniotic fluid embolism skos:exactMatch NCIT:C111911 Amniotic Fluid Embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism MONDO:0850048 classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome -MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden MONDO:0850054 hemophilia B leyden skos:exactMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b leyden +MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome @@ -40851,37 +35686,36 @@ MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch NCIT:C62193 MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch NCIT:C45542 Lung Pleomorphic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung pleomorphic carcinoma MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch NCIT:C6772 Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch NCIT:C45340 Primary Cutaneous Gamma-Delta T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma-delta t-cell lymphoma -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym inclusion body myopathy and brain white matter abnormalities -MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome +MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome +MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0851095 KINSSHIP syndrome skos:exactMatch Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch NCIT:C4768 Malignant Olfactory Nerve Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193670 MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472817 +MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 +MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 MONDO:8000006 WHIM syndrome 1 skos:exactMatch NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796037 MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212720 MONDO:8000010 antiphospholipid syndrome skos:closeMatch OMIM:107320 antiphospholipid syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lupus anticoagulant, familial MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nid a +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction due to neuronal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855733 -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argyrophil myenteric plexus, deficiency of -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction due to neuronal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nid a MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616263 -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trs -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xy gonadal agenesis syndrome -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular regression syndrome -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xy gonadal agenesis syndrome MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorchia, familial -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression syndrome MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression, embryonic +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression syndrome +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266427 MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002641 MONDO:8000017 testicular regression syndrome skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular regression syndrome diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 251b4dca..76897317 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/42502533-5fc2-4048-ad89-0fcc16295d08 +# mapping_set_id: https://w3id.org/sssom/mappings/b661d63f-094b-4e17-8513-71064c3f961e subject_id subject_label predicate_id object_id mapping_justification NCIT:C12290 Mandible oboInOwl:hasDbXref UBERON:0001684 semapv:UnspecifiedMatching NCIT:C12298 Retroperitoneum oboInOwl:hasDbXref UBERON:0003693 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index df1b868c..ac19bace 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -26,61 +26,61 @@ OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:ALDH2 semapv:UnspecifiedMatching OMIM:100650 ALDH2 skos:exactMatch ncbigene:217 semapv:UnspecifiedMatching OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:ALDH3A1 semapv:UnspecifiedMatching OMIM:100660 ALDH3A1 skos:exactMatch ncbigene:218 semapv:UnspecifiedMatching -OMIM:100670 ALDH1B1 skos:exactMatch ncbigene:219 semapv:UnspecifiedMatching OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:ALDH1B1 semapv:UnspecifiedMatching -OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:ACAT2 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch ncbigene:219 semapv:UnspecifiedMatching OMIM:100678 ACAT2 skos:exactMatch ncbigene:39 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:ACAT2 semapv:UnspecifiedMatching OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:CHRNA1 semapv:UnspecifiedMatching OMIM:100690 CHRNA1 skos:exactMatch ncbigene:1134 semapv:UnspecifiedMatching OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:CHRNB1 semapv:UnspecifiedMatching OMIM:100710 CHRNB1 skos:exactMatch ncbigene:1140 semapv:UnspecifiedMatching -OMIM:100720 CHRND skos:exactMatch ncbigene:1144 semapv:UnspecifiedMatching OMIM:100720 CHRND skos:exactMatch hgnc.symbol:CHRND semapv:UnspecifiedMatching -OMIM:100725 CHRNE skos:exactMatch ncbigene:1145 semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch ncbigene:1144 semapv:UnspecifiedMatching OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:CHRNE semapv:UnspecifiedMatching -OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:CHRNG semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch ncbigene:1145 semapv:UnspecifiedMatching OMIM:100730 CHRNG skos:exactMatch ncbigene:1146 semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:CHRNG semapv:UnspecifiedMatching OMIM:100740 ACHE skos:exactMatch hgnc.symbol:ACHE semapv:UnspecifiedMatching OMIM:100740 ACHE skos:exactMatch ncbigene:43 semapv:UnspecifiedMatching OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:ASCL1 semapv:UnspecifiedMatching OMIM:100790 ASCL1 skos:exactMatch ncbigene:429 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch ncbigene:50 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:ACO2 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching OMIM:100850 ACO2 skos:exactMatch UMLS:C1412127 semapv:UnspecifiedMatching -OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:ACO1 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:ACO2 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch ncbigene:50 semapv:UnspecifiedMatching OMIM:100880 ACO1 skos:exactMatch ncbigene:48 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:ACO1 semapv:UnspecifiedMatching OMIM:102480 ACR skos:exactMatch hgnc.symbol:ACR semapv:UnspecifiedMatching OMIM:102480 ACR skos:exactMatch ncbigene:49 semapv:UnspecifiedMatching OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:ACRV1 semapv:UnspecifiedMatching OMIM:102525 ACRV1 skos:exactMatch ncbigene:56 semapv:UnspecifiedMatching -OMIM:102540 ACTC1 skos:exactMatch ncbigene:70 semapv:UnspecifiedMatching OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:ACTC1 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch ncbigene:70 semapv:UnspecifiedMatching OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:ACTG2 semapv:UnspecifiedMatching OMIM:102545 ACTG2 skos:exactMatch ncbigene:72 semapv:UnspecifiedMatching -OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:ACTG1 semapv:UnspecifiedMatching OMIM:102560 ACTG1 skos:exactMatch ncbigene:71 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:ACTG1 semapv:UnspecifiedMatching OMIM:102565 FLNC skos:exactMatch hgnc.symbol:FLNC semapv:UnspecifiedMatching OMIM:102565 FLNC skos:exactMatch ncbigene:2318 semapv:UnspecifiedMatching -OMIM:102573 ACTN2 skos:exactMatch ncbigene:88 semapv:UnspecifiedMatching OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:ACTN2 semapv:UnspecifiedMatching -OMIM:102574 ACTN3 skos:exactMatch ncbigene:89 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch ncbigene:88 semapv:UnspecifiedMatching OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:ACTN3 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch ncbigene:89 semapv:UnspecifiedMatching OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:ACTN1 semapv:UnspecifiedMatching OMIM:102575 ACTN1 skos:exactMatch ncbigene:87 semapv:UnspecifiedMatching -OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:ACVR1 semapv:UnspecifiedMatching OMIM:102576 ACVR1 skos:exactMatch ncbigene:90 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:ACVR1 semapv:UnspecifiedMatching OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:RFC4 semapv:UnspecifiedMatching OMIM:102577 RFC4 skos:exactMatch ncbigene:5984 semapv:UnspecifiedMatching -OMIM:102578 PML skos:exactMatch ncbigene:5371 semapv:UnspecifiedMatching OMIM:102578 PML skos:exactMatch hgnc.symbol:PML semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch ncbigene:5981 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:RFC1 semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch ncbigene:5371 semapv:UnspecifiedMatching OMIM:102579 RFC1 skos:exactMatch UMLS:C1419348 semapv:UnspecifiedMatching OMIM:102579 RFC1 skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching -OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:ACVR2A semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:RFC1 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch ncbigene:5981 semapv:UnspecifiedMatching OMIM:102581 ACVR2A skos:exactMatch ncbigene:92 semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:ACVR2A semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C1367307 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C4014795 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching @@ -94,39 +94,39 @@ OMIM:102600 APRT skos:exactMatch hgnc.symbol:APRT semapv:UnspecifiedMatching OMIM:102600 APRT skos:exactMatch ncbigene:353 semapv:UnspecifiedMatching OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:ACTA1 semapv:UnspecifiedMatching OMIM:102610 ACTA1 skos:exactMatch ncbigene:58 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch ncbigene:59 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:ACTA2 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch ncbigene:59 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C1412137 semapv:UnspecifiedMatching -OMIM:102630 ACTB skos:exactMatch hgnc.symbol:ACTB semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching OMIM:102630 ACTB skos:exactMatch ncbigene:60 semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch hgnc.symbol:ACTB semapv:UnspecifiedMatching OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:SOAT1 semapv:UnspecifiedMatching OMIM:102642 SOAT1 skos:exactMatch ncbigene:6646 semapv:UnspecifiedMatching -OMIM:102645 APEH skos:exactMatch ncbigene:327 semapv:UnspecifiedMatching OMIM:102645 APEH skos:exactMatch hgnc.symbol:APEH semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch ncbigene:327 semapv:UnspecifiedMatching OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:MADCAM1 semapv:UnspecifiedMatching OMIM:102670 MADCAM1 skos:exactMatch ncbigene:8174 semapv:UnspecifiedMatching OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:ADD1 semapv:UnspecifiedMatching OMIM:102680 ADD1 skos:exactMatch ncbigene:118 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch UMLS:C1412231 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:ADD2 semapv:UnspecifiedMatching OMIM:102681 ADD2 skos:exactMatch ncbigene:119 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:ADD2 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch UMLS:C1412231 semapv:UnspecifiedMatching OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:AAVS1 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C1863236 semapv:UnspecifiedMatching OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching -OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:DPP4 semapv:UnspecifiedMatching OMIM:102720 DPP4 skos:exactMatch ncbigene:1803 semapv:UnspecifiedMatching OMIM:102750 ADK skos:exactMatch hgnc.symbol:ADK semapv:UnspecifiedMatching OMIM:102750 ADK skos:exactMatch ncbigene:132 semapv:UnspecifiedMatching -OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:AMPD1 semapv:UnspecifiedMatching OMIM:102770 AMPD1 skos:exactMatch ncbigene:270 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:AMPD1 semapv:UnspecifiedMatching OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:AMPD2 semapv:UnspecifiedMatching OMIM:102771 AMPD2 skos:exactMatch ncbigene:271 semapv:UnspecifiedMatching -OMIM:102772 AMPD3 skos:exactMatch ncbigene:272 semapv:UnspecifiedMatching OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:AMPD3 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch ncbigene:272 semapv:UnspecifiedMatching OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:ADORA1 semapv:UnspecifiedMatching OMIM:102775 ADORA1 skos:exactMatch ncbigene:134 semapv:UnspecifiedMatching OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:ADORA2A semapv:UnspecifiedMatching @@ -137,71 +137,71 @@ OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:ATP5F1B semapv:UnspecifiedMatchi OMIM:102910 ATP5F1B skos:exactMatch ncbigene:506 semapv:UnspecifiedMatching OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:ADCYAP1 semapv:UnspecifiedMatching OMIM:102980 ADCYAP1 skos:exactMatch ncbigene:116 semapv:UnspecifiedMatching -OMIM:102981 ADCYAP1R1 skos:exactMatch ncbigene:117 semapv:UnspecifiedMatching OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:ADCYAP1R1 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch ncbigene:117 semapv:UnspecifiedMatching OMIM:103000 AK1 skos:exactMatch hgnc.symbol:AK1 semapv:UnspecifiedMatching OMIM:103000 AK1 skos:exactMatch ncbigene:203 semapv:UnspecifiedMatching -OMIM:103020 AK2 skos:exactMatch hgnc.symbol:AK2 semapv:UnspecifiedMatching OMIM:103020 AK2 skos:exactMatch ncbigene:204 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch hgnc.symbol:AK2 semapv:UnspecifiedMatching OMIM:103030 AK4 skos:exactMatch hgnc.symbol:AK4 semapv:UnspecifiedMatching OMIM:103030 AK4 skos:exactMatch ncbigene:205 semapv:UnspecifiedMatching OMIM:103060 ADSS skos:exactMatch hgnc.symbol:ADSS2 semapv:UnspecifiedMatching OMIM:103060 ADSS skos:exactMatch ncbigene:159 semapv:UnspecifiedMatching -OMIM:103070 ADCY8 skos:exactMatch ncbigene:114 semapv:UnspecifiedMatching OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:ADCY8 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch ncbigene:114 semapv:UnspecifiedMatching OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:ADCY2 semapv:UnspecifiedMatching OMIM:103071 ADCY2 skos:exactMatch ncbigene:108 semapv:UnspecifiedMatching -OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:ADCY1 semapv:UnspecifiedMatching OMIM:103072 ADCY1 skos:exactMatch ncbigene:107 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:ADCY1 semapv:UnspecifiedMatching OMIM:103100 adie pupil skos:exactMatch UMLS:C0001519 semapv:UnspecifiedMatching OMIM:103100 adie pupil skos:exactMatch UMLS:C0040416 semapv:UnspecifiedMatching OMIM:103100 adie pupil skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch ncbigene:375 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:ARF1 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching OMIM:103180 ARF1 skos:exactMatch UMLS:C1412504 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:ARF1 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch ncbigene:375 semapv:UnspecifiedMatching OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:ARF5 semapv:UnspecifiedMatching OMIM:103188 ARF5 skos:exactMatch ncbigene:381 semapv:UnspecifiedMatching -OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:ARF3 semapv:UnspecifiedMatching OMIM:103190 ARF3 skos:exactMatch ncbigene:377 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:ARF3 semapv:UnspecifiedMatching OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:PLIN2 semapv:UnspecifiedMatching OMIM:103195 PLIN2 skos:exactMatch ncbigene:123 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch ncbigene:291 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:SLC25A4 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1335833 semapv:UnspecifiedMatching -OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:FDX1 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:SLC25A4 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch ncbigene:291 semapv:UnspecifiedMatching OMIM:103260 FDX1 skos:exactMatch ncbigene:2230 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:FDX1 semapv:UnspecifiedMatching OMIM:103270 FDXR skos:exactMatch hgnc.symbol:FDXR semapv:UnspecifiedMatching OMIM:103270 FDXR skos:exactMatch ncbigene:2232 semapv:UnspecifiedMatching OMIM:103275 ADM skos:exactMatch hgnc.symbol:ADM semapv:UnspecifiedMatching OMIM:103275 ADM skos:exactMatch ncbigene:133 semapv:UnspecifiedMatching OMIM:103280 H19 skos:exactMatch hgnc.symbol:H19 semapv:UnspecifiedMatching OMIM:103280 H19 skos:exactMatch ncbigene:283120 semapv:UnspecifiedMatching -OMIM:103285 adult syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching OMIM:103285 adult syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch UMLS:C1412285 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch hgnc.symbol:AGRN semapv:UnspecifiedMatching +OMIM:103285 adult syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching OMIM:103320 AGRN skos:exactMatch ncbigene:375790 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch hgnc.symbol:AGRN semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch UMLS:C1412285 semapv:UnspecifiedMatching OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:AHNAK semapv:UnspecifiedMatching OMIM:103390 AHNAK skos:exactMatch ncbigene:79026 semapv:UnspecifiedMatching OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching -OMIM:103600 ALB skos:exactMatch ncbigene:213 semapv:UnspecifiedMatching OMIM:103600 ALB skos:exactMatch hgnc.symbol:ALB semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch ncbigene:213 semapv:UnspecifiedMatching OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:ADH1A semapv:UnspecifiedMatching OMIM:103700 ADH1A skos:exactMatch ncbigene:124 semapv:UnspecifiedMatching -OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:ADH5 semapv:UnspecifiedMatching OMIM:103710 ADH5 skos:exactMatch ncbigene:128 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:ADH5 semapv:UnspecifiedMatching OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:ADH1B semapv:UnspecifiedMatching OMIM:103720 ADH1B skos:exactMatch ncbigene:125 semapv:UnspecifiedMatching OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:ADH1C semapv:UnspecifiedMatching OMIM:103730 ADH1C skos:exactMatch ncbigene:126 semapv:UnspecifiedMatching -OMIM:103735 ADH6 skos:exactMatch ncbigene:130 semapv:UnspecifiedMatching OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:ADH6 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch ncbigene:130 semapv:UnspecifiedMatching OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:ADH4 semapv:UnspecifiedMatching OMIM:103740 ADH4 skos:exactMatch ncbigene:127 semapv:UnspecifiedMatching OMIM:103780 alcohol dependence skos:exactMatch UMLS:C0001973 semapv:UnspecifiedMatching @@ -209,72 +209,72 @@ OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:AKR1A1 semapv:UnspecifiedMatching OMIM:103830 AKR1A1 skos:exactMatch ncbigene:10327 semapv:UnspecifiedMatching OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:ALDOA semapv:UnspecifiedMatching OMIM:103850 ALDOA skos:exactMatch ncbigene:226 semapv:UnspecifiedMatching -OMIM:103870 ALDOC skos:exactMatch ncbigene:230 semapv:UnspecifiedMatching OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:ALDOC semapv:UnspecifiedMatching -OMIM:103880 AKR1B1 skos:exactMatch ncbigene:231 semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch ncbigene:230 semapv:UnspecifiedMatching OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:AKR1B1 semapv:UnspecifiedMatching -OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch ncbigene:231 semapv:UnspecifiedMatching OMIM:103950 A2M skos:exactMatch ncbigene:2 semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch UMLS:C3151468 semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching OMIM:104145 AFM skos:exactMatch hgnc.symbol:AFM semapv:UnspecifiedMatching OMIM:104145 AFM skos:exactMatch ncbigene:173 semapv:UnspecifiedMatching OMIM:104150 AFP skos:exactMatch hgnc.symbol:AFP semapv:UnspecifiedMatching OMIM:104150 AFP skos:exactMatch ncbigene:174 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch ncbigene:463 semapv:UnspecifiedMatching OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:ZFHX3 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching OMIM:104155 ZFHX3 skos:exactMatch UMLS:C1412611 semapv:UnspecifiedMatching -OMIM:104160 GANAB skos:exactMatch hgnc.symbol:GANAB semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch ncbigene:463 semapv:UnspecifiedMatching OMIM:104160 GANAB skos:exactMatch ncbigene:23193 semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch hgnc.symbol:GANAB semapv:UnspecifiedMatching OMIM:104170 NAGA skos:exactMatch hgnc.symbol:NAGA semapv:UnspecifiedMatching OMIM:104170 NAGA skos:exactMatch ncbigene:4668 semapv:UnspecifiedMatching OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:GGTA1 semapv:UnspecifiedMatching OMIM:104175 GGTA1P skos:exactMatch ncbigene:2681 semapv:UnspecifiedMatching OMIM:104180 GANC skos:exactMatch hgnc.symbol:GANC semapv:UnspecifiedMatching OMIM:104180 GANC skos:exactMatch ncbigene:2595 semapv:UnspecifiedMatching -OMIM:104210 ADRA2A skos:exactMatch ncbigene:150 semapv:UnspecifiedMatching OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:ADRA2A semapv:UnspecifiedMatching -OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:ADRA1D semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch ncbigene:150 semapv:UnspecifiedMatching OMIM:104219 ADRA1D skos:exactMatch ncbigene:146 semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:ADRA1D semapv:UnspecifiedMatching OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:ADRA1B semapv:UnspecifiedMatching OMIM:104220 ADRA1B skos:exactMatch ncbigene:147 semapv:UnspecifiedMatching OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:ADRA1A semapv:UnspecifiedMatching OMIM:104221 ADRA1A skos:exactMatch ncbigene:148 semapv:UnspecifiedMatching OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:LRPAP1 semapv:UnspecifiedMatching OMIM:104225 LRPAP1 skos:exactMatch ncbigene:4043 semapv:UnspecifiedMatching -OMIM:104230 FUT4 skos:exactMatch ncbigene:2526 semapv:UnspecifiedMatching OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:FUT4 semapv:UnspecifiedMatching -OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:ST3GAL4 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch ncbigene:2526 semapv:UnspecifiedMatching OMIM:104240 ST3GAL4 skos:exactMatch ncbigene:6484 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:ST3GAL4 semapv:UnspecifiedMatching OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:ADRA2C semapv:UnspecifiedMatching OMIM:104250 ADRA2C skos:exactMatch ncbigene:152 semapv:UnspecifiedMatching OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:ADRA2B semapv:UnspecifiedMatching OMIM:104260 ADRA2B skos:exactMatch ncbigene:151 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1541844 semapv:UnspecifiedMatching -OMIM:104310 alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching OMIM:104310 alzheimer disease 2 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching +OMIM:104310 alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:PSEN1 semapv:UnspecifiedMatching OMIM:104311 PSEN1 skos:exactMatch ncbigene:5663 semapv:UnspecifiedMatching OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching OMIM:104610 ABP1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:CCT6A semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch ncbigene:908 semapv:UnspecifiedMatching -OMIM:104614 SLC3A1 skos:exactMatch ncbigene:6519 semapv:UnspecifiedMatching OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:SLC3A1 semapv:UnspecifiedMatching -OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:SLC7A1 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch ncbigene:6519 semapv:UnspecifiedMatching OMIM:104615 SLC7A1 skos:exactMatch ncbigene:6541 semapv:UnspecifiedMatching -OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:ACY1 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:SLC7A1 semapv:UnspecifiedMatching OMIM:104620 ACY1 skos:exactMatch ncbigene:95 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:ACY1 semapv:UnspecifiedMatching OMIM:104640 AREG skos:exactMatch hgnc.symbol:AREG semapv:UnspecifiedMatching OMIM:104640 AREG skos:exactMatch ncbigene:374 semapv:UnspecifiedMatching OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:AMY2A semapv:UnspecifiedMatching OMIM:104650 AMY2A skos:exactMatch ncbigene:279 semapv:UnspecifiedMatching -OMIM:104660 AMY2B skos:exactMatch ncbigene:280 semapv:UnspecifiedMatching OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:AMY2B semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch ncbigene:280 semapv:UnspecifiedMatching OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:AMY1A semapv:UnspecifiedMatching OMIM:104700 AMY1A skos:exactMatch ncbigene:276 semapv:UnspecifiedMatching OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:AMY1B semapv:UnspecifiedMatching @@ -283,8 +283,8 @@ OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:AMY1C semapv:UnspecifiedMatching OMIM:104702 AMY1C skos:exactMatch ncbigene:278 semapv:UnspecifiedMatching OMIM:104750 SAA1 skos:exactMatch ncbigene:6288 semapv:UnspecifiedMatching OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:SAA1 semapv:UnspecifiedMatching -OMIM:104751 SAA2 skos:exactMatch ncbigene:6289 semapv:UnspecifiedMatching OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:SAA2 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch ncbigene:6289 semapv:UnspecifiedMatching OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:SAA4 semapv:UnspecifiedMatching OMIM:104752 SAA4 skos:exactMatch ncbigene:6291 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch ncbigene:351 semapv:UnspecifiedMatching @@ -294,81 +294,81 @@ OMIM:104760 APP skos:exactMatch UMLS:C4015785 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C4015784 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C3888309 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C3888308 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C3888307 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C3549448 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C2931672 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C2751494 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C1863053 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C1364818 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C3888307 semapv:UnspecifiedMatching OMIM:104770 APCS skos:exactMatch hgnc.symbol:APCS semapv:UnspecifiedMatching OMIM:104770 APCS skos:exactMatch ncbigene:325 semapv:UnspecifiedMatching -OMIM:104775 APLP1 skos:exactMatch ncbigene:333 semapv:UnspecifiedMatching OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:APLP1 semapv:UnspecifiedMatching -OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:APLP2 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch ncbigene:333 semapv:UnspecifiedMatching OMIM:104776 APLP2 skos:exactMatch ncbigene:334 semapv:UnspecifiedMatching -OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C0936273 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:APLP2 semapv:UnspecifiedMatching OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C1622345 semapv:UnspecifiedMatching OMIM:105120 amyloidosis, finnish iia skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C0936273 semapv:UnspecifiedMatching OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching -OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching OMIM:105590 ALK skos:exactMatch hgnc.symbol:ALK semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching -OMIM:105850 ANG skos:exactMatch hgnc.symbol:ANG semapv:UnspecifiedMatching OMIM:105850 ANG skos:exactMatch ncbigene:283 semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch hgnc.symbol:ANG semapv:UnspecifiedMatching OMIM:106150 AGT skos:exactMatch hgnc.symbol:AGT semapv:UnspecifiedMatching OMIM:106150 AGT skos:exactMatch ncbigene:183 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch UMLS:C1439284 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch ncbigene:185 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:AGTR1 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch UMLS:C0266313 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch UMLS:C1439284 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch UMLS:C3837652 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:AGTR1 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch ncbigene:185 semapv:UnspecifiedMatching OMIM:106180 ACE skos:exactMatch hgnc.symbol:ACE semapv:UnspecifiedMatching OMIM:106180 ACE skos:exactMatch ncbigene:1636 semapv:UnspecifiedMatching -OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch UMLS:C1862871 semapv:UnspecifiedMatching OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching +OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch UMLS:C1862871 semapv:UnspecifiedMatching OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:SLC4A3 semapv:UnspecifiedMatching OMIM:106195 SLC4A3 skos:exactMatch ncbigene:6508 semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching OMIM:106300 spondyloarthropathy, susceptibility to, 1 skos:exactMatch UMLS:C1862852 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch ncbigene:287 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:ANK2 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C1412403 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C1833154 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C1412403 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch ncbigene:287 semapv:UnspecifiedMatching OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:ANXA3 semapv:UnspecifiedMatching OMIM:106490 ANXA3 skos:exactMatch ncbigene:306 semapv:UnspecifiedMatching OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:ANXA4 semapv:UnspecifiedMatching OMIM:106491 ANXA4 skos:exactMatch ncbigene:307 semapv:UnspecifiedMatching -OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching +OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching OMIM:107260 antigen msk41 identified by monoclonal antibody e3 skos:exactMatch UMLS:C1862836 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch hgnc.symbol:CD19 semapv:UnspecifiedMatching OMIM:107265 CD19 skos:exactMatch ncbigene:930 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch hgnc.symbol:CD19 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching OMIM:107266 CD22 skos:exactMatch hgnc.symbol:CD22 semapv:UnspecifiedMatching OMIM:107266 CD22 skos:exactMatch ncbigene:933 semapv:UnspecifiedMatching OMIM:107269 CD44 skos:exactMatch hgnc.symbol:CD44 semapv:UnspecifiedMatching OMIM:107269 CD44 skos:exactMatch ncbigene:960 semapv:UnspecifiedMatching -OMIM:107270 CD38 skos:exactMatch ncbigene:952 semapv:UnspecifiedMatching OMIM:107270 CD38 skos:exactMatch hgnc.symbol:CD38 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch ncbigene:952 semapv:UnspecifiedMatching OMIM:107271 CD59 skos:exactMatch hgnc.symbol:CD59 semapv:UnspecifiedMatching OMIM:107271 CD59 skos:exactMatch ncbigene:966 semapv:UnspecifiedMatching OMIM:107272 CD72 skos:exactMatch hgnc.symbol:CD72 semapv:UnspecifiedMatching OMIM:107272 CD72 skos:exactMatch ncbigene:971 semapv:UnspecifiedMatching -OMIM:107273 CD69 skos:exactMatch hgnc.symbol:CD69 semapv:UnspecifiedMatching OMIM:107273 CD69 skos:exactMatch ncbigene:969 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch hgnc.symbol:CD69 semapv:UnspecifiedMatching OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:SERPINA3 semapv:UnspecifiedMatching OMIM:107280 SERPINA3 skos:exactMatch ncbigene:12 semapv:UnspecifiedMatching -OMIM:107285 SLPI skos:exactMatch ncbigene:6590 semapv:UnspecifiedMatching OMIM:107285 SLPI skos:exactMatch hgnc.symbol:SLPI semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch ncbigene:6590 semapv:UnspecifiedMatching OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:SERPINC1 semapv:UnspecifiedMatching OMIM:107300 SERPINC1 skos:exactMatch ncbigene:462 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch UMLS:C1420232 semapv:UnspecifiedMatching @@ -388,39 +388,39 @@ OMIM:107450 IFNAR1 skos:exactMatch ncbigene:3454 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch ncbigene:3459 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:IFNGR1 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1334083 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:TFAP2A semapv:UnspecifiedMatching OMIM:107580 TFAP2A skos:exactMatch ncbigene:7020 semapv:UnspecifiedMatching OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:APOA2 semapv:UnspecifiedMatching OMIM:107670 APOA2 skos:exactMatch ncbigene:336 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:APOA1 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015838 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C5231502 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017713 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017420 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4017419 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017418 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015843 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017418 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017420 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015842 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch ncbigene:335 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C5231502 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C5231503 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:APOA1 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch ncbigene:335 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017713 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015838 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C0342608 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015836 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015835 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015837 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C0342898 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C1412468 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C0342608 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015831 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015830 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015837 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015832 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015833 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4015834 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015830 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015835 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015831 semapv:UnspecifiedMatching OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:APOA4 semapv:UnspecifiedMatching OMIM:107690 APOA4 skos:exactMatch ncbigene:337 semapv:UnspecifiedMatching OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:APOC1 semapv:UnspecifiedMatching @@ -429,8 +429,9 @@ OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:APOC3 semapv:UnspecifiedMatching OMIM:107720 APOC3 skos:exactMatch ncbigene:345 semapv:UnspecifiedMatching OMIM:107730 APOB skos:exactMatch ncbigene:338 semapv:UnspecifiedMatching OMIM:107730 APOB skos:exactMatch hgnc.symbol:APOB semapv:UnspecifiedMatching -OMIM:107740 APOD skos:exactMatch hgnc.symbol:APOD semapv:UnspecifiedMatching OMIM:107740 APOD skos:exactMatch ncbigene:347 semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch hgnc.symbol:APOD semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch ncbigene:348 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4479658 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4479659 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4479660 semapv:UnspecifiedMatching @@ -446,19 +447,18 @@ OMIM:107741 APOE skos:exactMatch UMLS:C5231555 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C5231556 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C5231557 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch hgnc.symbol:APOE semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch ncbigene:348 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4479657 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015881 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015880 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015879 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C1412481 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C1862591 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015880 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C3887714 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015860 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015861 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015862 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C1412481 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015869 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015870 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C4015871 semapv:UnspecifiedMatching @@ -470,26 +470,26 @@ OMIM:107741 APOE skos:exactMatch UMLS:C4015867 semapv:UnspecifiedMatching OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:APEX1 semapv:UnspecifiedMatching OMIM:107748 APEX1 skos:exactMatch ncbigene:328 semapv:UnspecifiedMatching OMIM:107750 arbitrary restriction polymorphism 1 skos:exactMatch UMLS:C1862555 semapv:UnspecifiedMatching -OMIM:107760 APOF skos:exactMatch hgnc.symbol:APOF semapv:UnspecifiedMatching OMIM:107760 APOF skos:exactMatch ncbigene:319 semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch hgnc.symbol:APOF semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C0263428 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C1416912 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:LRP1 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch ncbigene:4035 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch ncbigene:7026 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:NR2F2 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch UMLS:C1417834 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching -OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:AQP1 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:NR2F2 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch ncbigene:7026 semapv:UnspecifiedMatching OMIM:107776 AQP1 skos:exactMatch ncbigene:358 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:AQP1 semapv:UnspecifiedMatching OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:AQP2 semapv:UnspecifiedMatching OMIM:107777 AQP2 skos:exactMatch ncbigene:359 semapv:UnspecifiedMatching OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:RARS1 semapv:UnspecifiedMatching OMIM:107820 RARS1 skos:exactMatch ncbigene:5917 semapv:UnspecifiedMatching -OMIM:107830 ARG2 skos:exactMatch ncbigene:384 semapv:UnspecifiedMatching OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:ARG2 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch ncbigene:384 semapv:UnspecifiedMatching OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:CYP19A1 semapv:UnspecifiedMatching OMIM:107910 CYP19A1 skos:exactMatch ncbigene:1588 semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching @@ -497,10 +497,10 @@ OMIM:107930 DDC skos:exactMatch UMLS:C1413943 semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch hgnc.symbol:DDC semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch ncbigene:1644 semapv:UnspecifiedMatching OMIM:107940 ARRB1 skos:exactMatch ncbigene:408 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:ARRB1 semapv:UnspecifiedMatching OMIM:107940 ARRB1 skos:exactMatch UMLS:C1332117 semapv:UnspecifiedMatching -OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:ARRB2 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:ARRB1 semapv:UnspecifiedMatching OMIM:107941 ARRB2 skos:exactMatch ncbigene:409 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:ARRB2 semapv:UnspecifiedMatching OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching @@ -510,247 +510,247 @@ OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMa OMIM:108010 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching OMIM:108010 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching OMIM:108100 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:CYP1A1 semapv:UnspecifiedMatching OMIM:108330 CYP1A1 skos:exactMatch ncbigene:1543 semapv:UnspecifiedMatching -OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:NAT1 semapv:UnspecifiedMatching OMIM:108345 NAT1 skos:exactMatch ncbigene:9 semapv:UnspecifiedMatching -OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:GRB2 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:NAT1 semapv:UnspecifiedMatching OMIM:108355 GRB2 skos:exactMatch ncbigene:2885 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:GRB2 semapv:UnspecifiedMatching OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:ASGR1 semapv:UnspecifiedMatching OMIM:108360 ASGR1 skos:exactMatch ncbigene:432 semapv:UnspecifiedMatching -OMIM:108361 ASGR2 skos:exactMatch ncbigene:433 semapv:UnspecifiedMatching OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:ASGR2 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch ncbigene:433 semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch UMLS:C1412588 semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch hgnc.symbol:ASNS semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch ncbigene:440 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch ncbigene:4677 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:NARS1 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C1384524 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:NARS1 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch ncbigene:4677 semapv:UnspecifiedMatching -OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch UMLS:C0265283 semapv:UnspecifiedMatching -OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching +OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching +OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch hgnc.symbol:ACLY semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch ncbigene:47 semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching OMIM:108729 ATP5F1C skos:exactMatch UMLS:C1412656 semapv:UnspecifiedMatching OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:ATP5F1C semapv:UnspecifiedMatching OMIM:108729 ATP5F1C skos:exactMatch ncbigene:509 semapv:UnspecifiedMatching -OMIM:108730 ATP2A1 skos:exactMatch ncbigene:487 semapv:UnspecifiedMatching OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:ATP2A1 semapv:UnspecifiedMatching -OMIM:108731 ATP2B1 skos:exactMatch ncbigene:490 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch ncbigene:487 semapv:UnspecifiedMatching OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:ATP2B1 semapv:UnspecifiedMatching -OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:ATP2B4 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch ncbigene:490 semapv:UnspecifiedMatching OMIM:108732 ATP2B4 skos:exactMatch ncbigene:493 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:ATP2B4 semapv:UnspecifiedMatching OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:ATP2B2 semapv:UnspecifiedMatching OMIM:108733 ATP2B2 skos:exactMatch ncbigene:491 semapv:UnspecifiedMatching OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:ATP2A2 semapv:UnspecifiedMatching OMIM:108740 ATP2A2 skos:exactMatch ncbigene:488 semapv:UnspecifiedMatching OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:ATP6V0C semapv:UnspecifiedMatching OMIM:108745 ATP6V0C skos:exactMatch ncbigene:527 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch ncbigene:529 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:ATP6V1E1 semapv:UnspecifiedMatching OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:ATP6V1E1 semapv:UnspecifiedMatching OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C1412677 semapv:UnspecifiedMatching -OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch ncbigene:529 semapv:UnspecifiedMatching OMIM:108780 NPPA skos:exactMatch ncbigene:4878 semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:NPR1 semapv:UnspecifiedMatching OMIM:108960 NPR1 skos:exactMatch ncbigene:4881 semapv:UnspecifiedMatching OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:NPR2 semapv:UnspecifiedMatching OMIM:108961 NPR2 skos:exactMatch ncbigene:4882 semapv:UnspecifiedMatching OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:NPR3 semapv:UnspecifiedMatching OMIM:108962 NPR3 skos:exactMatch ncbigene:4883 semapv:UnspecifiedMatching -OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching +OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching OMIM:108990 attached cell antigen 28.3.7 skos:exactMatch UMLS:C1417160 semapv:UnspecifiedMatching -OMIM:109090 SSB skos:exactMatch hgnc.symbol:SSB semapv:UnspecifiedMatching OMIM:109090 SSB skos:exactMatch ncbigene:6741 semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch hgnc.symbol:SSB semapv:UnspecifiedMatching OMIM:109091 CALR skos:exactMatch hgnc.symbol:CALR semapv:UnspecifiedMatching OMIM:109091 CALR skos:exactMatch ncbigene:811 semapv:UnspecifiedMatching OMIM:109092 TRIM21 skos:exactMatch UMLS:C1540056 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:TRIM21 semapv:UnspecifiedMatching OMIM:109092 TRIM21 skos:exactMatch ncbigene:6737 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:TRIM21 semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch UMLS:C0812237 semapv:UnspecifiedMatching OMIM:109135 AXL skos:exactMatch hgnc.symbol:AXL semapv:UnspecifiedMatching OMIM:109135 AXL skos:exactMatch ncbigene:558 semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch UMLS:C0812237 semapv:UnspecifiedMatching -OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching OMIM:109170 LST1 skos:exactMatch ncbigene:7940 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:SLC1A5 semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch ncbigene:6510 semapv:UnspecifiedMatching OMIM:109195 BPI skos:exactMatch hgnc.symbol:BPI semapv:UnspecifiedMatching OMIM:109195 BPI skos:exactMatch ncbigene:671 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015897 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015899 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015900 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015901 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015902 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015903 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015904 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225646 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015897 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225644 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225645 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225646 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:SLC4A1 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch ncbigene:6521 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225456 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015896 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C3892933 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015895 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015894 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1420193 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1832168 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862190 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862191 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969039 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862322 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969039 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C3892933 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015889 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015890 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015891 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015892 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015893 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969379 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015895 semapv:UnspecifiedMatching OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:SLC4A2 semapv:UnspecifiedMatching OMIM:109280 SLC4A2 skos:exactMatch ncbigene:6522 semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching -OMIM:109480 BSG skos:exactMatch ncbigene:682 semapv:UnspecifiedMatching OMIM:109480 BSG skos:exactMatch hgnc.symbol:BSG semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch ncbigene:682 semapv:UnspecifiedMatching OMIM:109530 CD48 skos:exactMatch hgnc.symbol:CD48 semapv:UnspecifiedMatching OMIM:109530 CD48 skos:exactMatch ncbigene:962 semapv:UnspecifiedMatching OMIM:109535 CD40 skos:exactMatch hgnc.symbol:CD40 semapv:UnspecifiedMatching OMIM:109535 CD40 skos:exactMatch ncbigene:958 semapv:UnspecifiedMatching -OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching OMIM:109545 TNFRSF17 skos:exactMatch ncbigene:608 semapv:UnspecifiedMatching -OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:BCL3 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching OMIM:109560 BCL3 skos:exactMatch ncbigene:602 semapv:UnspecifiedMatching -OMIM:109565 BCL6 skos:exactMatch ncbigene:604 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:BCL3 semapv:UnspecifiedMatching OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:BCL6 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch ncbigene:604 semapv:UnspecifiedMatching OMIM:109580 BTG1 skos:exactMatch UMLS:C1439347 semapv:UnspecifiedMatching OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:BTG1 semapv:UnspecifiedMatching OMIM:109580 BTG1 skos:exactMatch ncbigene:694 semapv:UnspecifiedMatching OMIM:109610 TSPO skos:exactMatch hgnc.symbol:TSPO semapv:UnspecifiedMatching OMIM:109610 TSPO skos:exactMatch ncbigene:706 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:ADRB1 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch ncbigene:153 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:ADRB1 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C1821417 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch UMLS:C1439273 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C2676080 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch UMLS:C1439273 semapv:UnspecifiedMatching OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:GRK2 semapv:UnspecifiedMatching OMIM:109635 GRK2 skos:exactMatch ncbigene:156 semapv:UnspecifiedMatching OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:GRK3 semapv:UnspecifiedMatching OMIM:109636 ADRBK2 skos:exactMatch ncbigene:157 semapv:UnspecifiedMatching OMIM:109640 beta-glycerol phosphatase skos:exactMatch UMLS:C1415192 semapv:UnspecifiedMatching -OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching OMIM:109675 ST6GAL1 skos:exactMatch ncbigene:6480 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:HSD17B1 semapv:UnspecifiedMatching OMIM:109684 HSD17B1 skos:exactMatch ncbigene:3292 semapv:UnspecifiedMatching OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:HSD17B2 semapv:UnspecifiedMatching OMIM:109685 HSD17B2 skos:exactMatch ncbigene:3294 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch ncbigene:154 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C5193154 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:ADRB2 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C1862282 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C1367657 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C1862282 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C3835585 semapv:UnspecifiedMatching -OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:ADRB3 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C5193154 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch ncbigene:154 semapv:UnspecifiedMatching OMIM:109691 ADRB3 skos:exactMatch ncbigene:155 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:ADRB3 semapv:UnspecifiedMatching OMIM:109700 B2M skos:exactMatch hgnc.symbol:B2M semapv:UnspecifiedMatching OMIM:109700 B2M skos:exactMatch ncbigene:567 semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch UMLS:C1412710 semapv:UnspecifiedMatching OMIM:109710 B2MR skos:exactMatch hgnc.symbol:B2MR semapv:UnspecifiedMatching OMIM:109710 B2MR skos:exactMatch ncbigene:568 semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch UMLS:C1412710 semapv:UnspecifiedMatching OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:HSD3B1 semapv:UnspecifiedMatching OMIM:109715 HSD3B1 skos:exactMatch ncbigene:3283 semapv:UnspecifiedMatching -OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:BLVRA semapv:UnspecifiedMatching OMIM:109750 BLVRA skos:exactMatch ncbigene:644 semapv:UnspecifiedMatching -OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:HTR1A semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:BLVRA semapv:UnspecifiedMatching OMIM:109760 HTR1A skos:exactMatch ncbigene:3350 semapv:UnspecifiedMatching -OMIM:109770 CEACAM1 skos:exactMatch ncbigene:634 semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:HTR1A semapv:UnspecifiedMatching OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:CEACAM1 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch ncbigene:634 semapv:UnspecifiedMatching OMIM:109780 bkm DNA skos:exactMatch UMLS:C1862276 semapv:UnspecifiedMatching OMIM:109800 bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching OMIM:110300 ABO skos:exactMatch hgnc.symbol:ABO semapv:UnspecifiedMatching OMIM:110300 ABO skos:exactMatch ncbigene:28 semapv:UnspecifiedMatching OMIM:110600 ART4 skos:exactMatch hgnc.symbol:ART4 semapv:UnspecifiedMatching OMIM:110600 ART4 skos:exactMatch ncbigene:420 semapv:UnspecifiedMatching -OMIM:110750 GYPC skos:exactMatch hgnc.symbol:GYPC semapv:UnspecifiedMatching OMIM:110750 GYPC skos:exactMatch ncbigene:2995 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch ncbigene:2525 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:FUT3 semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch hgnc.symbol:GYPC semapv:UnspecifiedMatching OMIM:111100 FUT3 skos:exactMatch UMLS:C1414864 semapv:UnspecifiedMatching OMIM:111100 FUT3 skos:exactMatch UMLS:C4015916 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:FUT3 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch ncbigene:2525 semapv:UnspecifiedMatching OMIM:111300 blood group, mn skos:exactMatch UMLS:C0026327 semapv:UnspecifiedMatching OMIM:111400 blood group, p1pk system skos:exactMatch UMLS:C3549485 semapv:UnspecifiedMatching OMIM:111680 RHD skos:exactMatch hgnc.symbol:RHD semapv:UnspecifiedMatching OMIM:111680 RHD skos:exactMatch ncbigene:6007 semapv:UnspecifiedMatching -OMIM:111700 RHCE skos:exactMatch hgnc.symbol:RHCE semapv:UnspecifiedMatching OMIM:111700 RHCE skos:exactMatch ncbigene:6006 semapv:UnspecifiedMatching -OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch hgnc.symbol:RHCE semapv:UnspecifiedMatching OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:B4GALNT2 semapv:UnspecifiedMatching -OMIM:112203 CD80 skos:exactMatch ncbigene:941 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching OMIM:112203 CD80 skos:exactMatch hgnc.symbol:CD80 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch ncbigene:941 semapv:UnspecifiedMatching OMIM:112205 CD79A skos:exactMatch hgnc.symbol:CD79A semapv:UnspecifiedMatching OMIM:112205 CD79A skos:exactMatch ncbigene:973 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch UMLS:C1417326 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:MS4A1 semapv:UnspecifiedMatching OMIM:112210 MS4A1 skos:exactMatch ncbigene:931 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:MS4A1 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch UMLS:C1417326 semapv:UnspecifiedMatching OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch ncbigene:632 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:BGLAP semapv:UnspecifiedMatching OMIM:112260 BGLAP skos:exactMatch UMLS:C1412791 semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:BGLAP semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch ncbigene:632 semapv:UnspecifiedMatching OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:BMP2 semapv:UnspecifiedMatching OMIM:112261 BMP2 skos:exactMatch ncbigene:650 semapv:UnspecifiedMatching -OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:BMP4 semapv:UnspecifiedMatching OMIM:112262 BMP4 skos:exactMatch ncbigene:652 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:BMP4 semapv:UnspecifiedMatching OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:BMP3 semapv:UnspecifiedMatching OMIM:112263 BMP3 skos:exactMatch ncbigene:651 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch ncbigene:649 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:BMP1 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching OMIM:112264 BMP1 skos:exactMatch UMLS:C1412804 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:BMP1 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch ncbigene:649 semapv:UnspecifiedMatching OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:BMP5 semapv:UnspecifiedMatching OMIM:112265 BMP5 skos:exactMatch ncbigene:653 semapv:UnspecifiedMatching -OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:BMP6 semapv:UnspecifiedMatching OMIM:112266 BMP6 skos:exactMatch ncbigene:654 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:BMP6 semapv:UnspecifiedMatching OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:BMP7 semapv:UnspecifiedMatching OMIM:112267 BMP7 skos:exactMatch ncbigene:655 semapv:UnspecifiedMatching -OMIM:112310 boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching OMIM:112310 boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching +OMIM:112310 boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching OMIM:113000 brachydactyly, iia b1 skos:exactMatch UMLS:C1862112 semapv:UnspecifiedMatching OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching OMIM:113100 brachydactyly, iia c skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching OMIM:113100 brachydactyly, iia c skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching OMIM:113200 brachydactyly, iia d skos:exactMatch UMLS:C0220664 semapv:UnspecifiedMatching -OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C1862102 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching OMIM:113300 brachydactyly, iia e1 skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching -OMIM:113500 brachyolmia iia 3 skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching OMIM:113500 brachyolmia iia 3 skos:exactMatch UMLS:C0432227 semapv:UnspecifiedMatching +OMIM:113500 brachyolmia iia 3 skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:BDKRB2 semapv:UnspecifiedMatching OMIM:113503 BDKRB2 skos:exactMatch ncbigene:624 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch ncbigene:627 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch hgnc.symbol:BDNF semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch UMLS:C4694116 semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch UMLS:C1332408 semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch UMLS:C4694116 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch hgnc.symbol:BDNF semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch ncbigene:627 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch ncbigene:7533 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:YWHAH semapv:UnspecifiedMatching OMIM:113508 YWHAH skos:exactMatch UMLS:C1421562 semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:YWHAH semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch ncbigene:7533 semapv:UnspecifiedMatching OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:BCAT1 semapv:UnspecifiedMatching OMIM:113520 BCAT1 skos:exactMatch ncbigene:586 semapv:UnspecifiedMatching OMIM:113530 BCAT2 skos:exactMatch UMLS:C1412752 semapv:UnspecifiedMatching @@ -759,58 +759,58 @@ OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:BCAT2 semapv:UnspecifiedMatching OMIM:113530 BCAT2 skos:exactMatch ncbigene:587 semapv:UnspecifiedMatching OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch ncbigene:6137 semapv:UnspecifiedMatching OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:RPL13 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching OMIM:113703 RPL13 skos:exactMatch UMLS:C1335636 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch ncbigene:6137 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:BRCA1 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch ncbigene:672 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C3280442 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C3469525 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C2676676 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C0376571 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C3469525 semapv:UnspecifiedMatching OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:TFF1 semapv:UnspecifiedMatching OMIM:113710 TFF1 skos:exactMatch ncbigene:7031 semapv:UnspecifiedMatching OMIM:113725 POU4F2 skos:exactMatch UMLS:C1418766 semapv:UnspecifiedMatching OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:POU4F2 semapv:UnspecifiedMatching OMIM:113725 POU4F2 skos:exactMatch ncbigene:5458 semapv:UnspecifiedMatching -OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching OMIM:113730 UCP1 skos:exactMatch ncbigene:7350 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch ncbigene:667 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch hgnc.symbol:DST semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching OMIM:113810 DST skos:exactMatch UMLS:C1539312 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch hgnc.symbol:DST semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch ncbigene:667 semapv:UnspecifiedMatching OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:COL17A1 semapv:UnspecifiedMatching OMIM:113811 COL17A1 skos:exactMatch ncbigene:1308 semapv:UnspecifiedMatching OMIM:113955 bungarotoxin, alpha, receptor for skos:exactMatch UMLS:C3888101 semapv:UnspecifiedMatching -OMIM:113970 burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching OMIM:113970 burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching +OMIM:113970 burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:C5AR1 semapv:UnspecifiedMatching OMIM:113995 C5AR1 skos:exactMatch ncbigene:728 semapv:UnspecifiedMatching -OMIM:114000 caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching OMIM:114000 caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching +OMIM:114000 caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch UMLS:C1413078 semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch hgnc.symbol:CAD semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch ncbigene:790 semapv:UnspecifiedMatching -OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:CDH15 semapv:UnspecifiedMatching OMIM:114019 CDH15 skos:exactMatch ncbigene:1013 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch ncbigene:1000 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:CDH15 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch UMLS:C1413277 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:CDH2 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch UMLS:C1413277 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch ncbigene:1000 semapv:UnspecifiedMatching OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:CDH3 semapv:UnspecifiedMatching OMIM:114021 CDH3 skos:exactMatch ncbigene:1001 semapv:UnspecifiedMatching OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:CTNNA2 semapv:UnspecifiedMatching OMIM:114025 CTNNA2 skos:exactMatch ncbigene:1496 semapv:UnspecifiedMatching -OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:CALB1 semapv:UnspecifiedMatching OMIM:114050 CALB1 skos:exactMatch ncbigene:793 semapv:UnspecifiedMatching -OMIM:114051 CALB2 skos:exactMatch ncbigene:794 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:CALB1 semapv:UnspecifiedMatching OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:CALB2 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch ncbigene:794 semapv:UnspecifiedMatching OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:ANXA6 semapv:UnspecifiedMatching OMIM:114070 ANXA6 skos:exactMatch ncbigene:309 semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch UMLS:C1413099 semapv:UnspecifiedMatching @@ -820,61 +820,61 @@ OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:CAMK2A semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch ncbigene:815 semapv:UnspecifiedMatching OMIM:114080 CAMK4 skos:exactMatch ncbigene:814 semapv:UnspecifiedMatching OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:CAMK4 semapv:UnspecifiedMatching -OMIM:114085 S100A10 skos:exactMatch ncbigene:6281 semapv:UnspecifiedMatching OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:S100A10 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch ncbigene:6281 semapv:UnspecifiedMatching OMIM:114090 CAST skos:exactMatch hgnc.symbol:CAST semapv:UnspecifiedMatching OMIM:114090 CAST skos:exactMatch ncbigene:831 semapv:UnspecifiedMatching OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:PPP3CA semapv:UnspecifiedMatching OMIM:114105 PPP3CA skos:exactMatch ncbigene:5530 semapv:UnspecifiedMatching OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:PPP3CB semapv:UnspecifiedMatching OMIM:114106 PPP3CB skos:exactMatch ncbigene:5532 semapv:UnspecifiedMatching -OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:PPP3CC semapv:UnspecifiedMatching OMIM:114107 PPP3CC skos:exactMatch ncbigene:5533 semapv:UnspecifiedMatching -OMIM:114110 S100A6 skos:exactMatch ncbigene:6277 semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:PPP3CC semapv:UnspecifiedMatching OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:S100A6 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch ncbigene:6277 semapv:UnspecifiedMatching OMIM:114130 CALCA skos:exactMatch hgnc.symbol:CALCA semapv:UnspecifiedMatching OMIM:114130 CALCA skos:exactMatch ncbigene:796 semapv:UnspecifiedMatching OMIM:114131 CALCR skos:exactMatch hgnc.symbol:CALCR semapv:UnspecifiedMatching OMIM:114131 CALCR skos:exactMatch ncbigene:799 semapv:UnspecifiedMatching OMIM:114160 CALCB skos:exactMatch hgnc.symbol:CALCB semapv:UnspecifiedMatching OMIM:114160 CALCB skos:exactMatch ncbigene:797 semapv:UnspecifiedMatching -OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:CAPNS1 semapv:UnspecifiedMatching OMIM:114170 CAPNS1 skos:exactMatch ncbigene:826 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:CALM1 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch ncbigene:801 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:CAPNS1 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch UMLS:C1332659 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch UMLS:C3554047 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:CALM1 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch ncbigene:801 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:CALM2 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch UMLS:C1413089 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:CALM2 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch ncbigene:805 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:CALM3 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch ncbigene:808 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch UMLS:C1413093 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:CALM3 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch UMLS:C1413093 semapv:UnspecifiedMatching OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:CALML3 semapv:UnspecifiedMatching OMIM:114184 CALML3 skos:exactMatch ncbigene:810 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch UMLS:C1424497 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:CALCRL semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch ncbigene:10203 semapv:UnspecifiedMatching -OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching OMIM:114204 CACNA2D1 skos:exactMatch ncbigene:781 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch ncbigene:775 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:CACNA1C semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch UMLS:C1413057 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:CACNA1C semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch ncbigene:775 semapv:UnspecifiedMatching OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:CACNA1D semapv:UnspecifiedMatching OMIM:114206 CACNA1D skos:exactMatch ncbigene:776 semapv:UnspecifiedMatching OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:CACNB1 semapv:UnspecifiedMatching OMIM:114207 CACNB1 skos:exactMatch ncbigene:782 semapv:UnspecifiedMatching -OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:CACNA1S semapv:UnspecifiedMatching OMIM:114208 CACNA1S skos:exactMatch ncbigene:779 semapv:UnspecifiedMatching -OMIM:114209 CACNG1 skos:exactMatch ncbigene:786 semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:CACNA1S semapv:UnspecifiedMatching OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:CACNG1 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch ncbigene:786 semapv:UnspecifiedMatching OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:S100A4 semapv:UnspecifiedMatching OMIM:114210 S100A4 skos:exactMatch ncbigene:6275 semapv:UnspecifiedMatching OMIM:114212 CAPS skos:exactMatch hgnc.symbol:CAPS semapv:UnspecifiedMatching @@ -883,111 +883,111 @@ OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:CALD1 semapv:UnspecifiedMatching OMIM:114213 CALD1 skos:exactMatch ncbigene:800 semapv:UnspecifiedMatching OMIM:114217 CANX skos:exactMatch ncbigene:821 semapv:UnspecifiedMatching OMIM:114217 CANX skos:exactMatch hgnc.symbol:CANX semapv:UnspecifiedMatching -OMIM:114220 CAPN1 skos:exactMatch ncbigene:823 semapv:UnspecifiedMatching OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:CAPN1 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch ncbigene:823 semapv:UnspecifiedMatching OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:CAPN2 semapv:UnspecifiedMatching OMIM:114230 CAPN2 skos:exactMatch ncbigene:824 semapv:UnspecifiedMatching OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:CAPN3 semapv:UnspecifiedMatching OMIM:114240 CAPN3 skos:exactMatch ncbigene:825 semapv:UnspecifiedMatching OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:CASQ1 semapv:UnspecifiedMatching OMIM:114250 CASQ1 skos:exactMatch ncbigene:844 semapv:UnspecifiedMatching -OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:CASQ2 semapv:UnspecifiedMatching OMIM:114251 CASQ2 skos:exactMatch ncbigene:845 semapv:UnspecifiedMatching -OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:CD52 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:CASQ2 semapv:UnspecifiedMatching OMIM:114280 CDW52 skos:exactMatch ncbigene:1043 semapv:UnspecifiedMatching -OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:CD52 semapv:UnspecifiedMatching OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching +OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:NUP214 semapv:UnspecifiedMatching OMIM:114350 NUP214 skos:exactMatch ncbigene:8021 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching -OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:CNR1 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch ncbigene:1268 semapv:UnspecifiedMatching -OMIM:114750 CA3 skos:exactMatch hgnc.symbol:CA3 semapv:UnspecifiedMatching OMIM:114750 CA3 skos:exactMatch ncbigene:761 semapv:UnspecifiedMatching -OMIM:114760 CA4 skos:exactMatch ncbigene:762 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch hgnc.symbol:CA3 semapv:UnspecifiedMatching OMIM:114760 CA4 skos:exactMatch hgnc.symbol:CA4 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch ncbigene:762 semapv:UnspecifiedMatching OMIM:114761 CA5A skos:exactMatch hgnc.symbol:CA5A semapv:UnspecifiedMatching OMIM:114761 CA5A skos:exactMatch ncbigene:763 semapv:UnspecifiedMatching OMIM:114770 CA7 skos:exactMatch hgnc.symbol:CA7 semapv:UnspecifiedMatching OMIM:114770 CA7 skos:exactMatch ncbigene:766 semapv:UnspecifiedMatching -OMIM:114780 CA6 skos:exactMatch hgnc.symbol:CA6 semapv:UnspecifiedMatching OMIM:114780 CA6 skos:exactMatch ncbigene:765 semapv:UnspecifiedMatching -OMIM:114800 CA1 skos:exactMatch hgnc.symbol:CA1 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch hgnc.symbol:CA6 semapv:UnspecifiedMatching OMIM:114800 CA1 skos:exactMatch ncbigene:759 semapv:UnspecifiedMatching -OMIM:114815 CA8 skos:exactMatch ncbigene:767 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch hgnc.symbol:CA1 semapv:UnspecifiedMatching OMIM:114815 CA8 skos:exactMatch hgnc.symbol:CA8 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch ncbigene:767 semapv:UnspecifiedMatching OMIM:114830 CBR1 skos:exactMatch UMLS:C1413154 semapv:UnspecifiedMatching OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:CBR1 semapv:UnspecifiedMatching OMIM:114830 CBR1 skos:exactMatch ncbigene:873 semapv:UnspecifiedMatching OMIM:114835 CES1 skos:exactMatch hgnc.symbol:CES1 semapv:UnspecifiedMatching OMIM:114835 CES1 skos:exactMatch ncbigene:1066 semapv:UnspecifiedMatching -OMIM:114840 CEL skos:exactMatch hgnc.symbol:CEL semapv:UnspecifiedMatching OMIM:114840 CEL skos:exactMatch ncbigene:1056 semapv:UnspecifiedMatching -OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:CPA1 semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch hgnc.symbol:CEL semapv:UnspecifiedMatching OMIM:114850 CPA1 skos:exactMatch ncbigene:1357 semapv:UnspecifiedMatching -OMIM:114851 CPA3 skos:exactMatch ncbigene:1359 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:CPA1 semapv:UnspecifiedMatching OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:CPA3 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch ncbigene:1359 semapv:UnspecifiedMatching OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:CPB1 semapv:UnspecifiedMatching OMIM:114852 CPB1 skos:exactMatch ncbigene:1360 semapv:UnspecifiedMatching OMIM:114855 CPE skos:exactMatch hgnc.symbol:CPE semapv:UnspecifiedMatching OMIM:114855 CPE skos:exactMatch ncbigene:1363 semapv:UnspecifiedMatching OMIM:114860 CPM skos:exactMatch hgnc.symbol:CPM semapv:UnspecifiedMatching OMIM:114860 CPM skos:exactMatch ncbigene:1368 semapv:UnspecifiedMatching -OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:CEACAM5 semapv:UnspecifiedMatching OMIM:114890 CEACAM5 skos:exactMatch ncbigene:1048 semapv:UnspecifiedMatching -OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:CEACAM5 semapv:UnspecifiedMatching OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching +OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch UMLS:C2676023 semapv:UnspecifiedMatching OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching -OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:HAPLN1 semapv:UnspecifiedMatching OMIM:115435 HAPLN1 skos:exactMatch ncbigene:1404 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:HAPLN1 semapv:UnspecifiedMatching OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:MATN1 semapv:UnspecifiedMatching OMIM:115437 MATN1 skos:exactMatch ncbigene:4146 semapv:UnspecifiedMatching -OMIM:115440 CSNK2A1 skos:exactMatch ncbigene:1457 semapv:UnspecifiedMatching OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:CSNK2A1 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch ncbigene:1457 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch ncbigene:1460 semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch UMLS:C1413762 semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:CSNK2B semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch ncbigene:1460 semapv:UnspecifiedMatching -OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:CSNK2A2 semapv:UnspecifiedMatching OMIM:115442 CSNK2A2 skos:exactMatch ncbigene:1459 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:CSNK2A2 semapv:UnspecifiedMatching OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:CSN1S1 semapv:UnspecifiedMatching OMIM:115450 CSN1 skos:exactMatch ncbigene:1446 semapv:UnspecifiedMatching -OMIM:115460 CSN2 skos:exactMatch ncbigene:1447 semapv:UnspecifiedMatching OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:CSN2 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch ncbigene:1447 semapv:UnspecifiedMatching OMIM:115500 CAT skos:exactMatch hgnc.symbol:CAT semapv:UnspecifiedMatching OMIM:115500 CAT skos:exactMatch ncbigene:847 semapv:UnspecifiedMatching -OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching OMIM:115501 TYRP1 skos:exactMatch ncbigene:7306 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching -OMIM:116790 COMT skos:exactMatch ncbigene:1312 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:116790 COMT skos:exactMatch hgnc.symbol:COMT semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch ncbigene:1312 semapv:UnspecifiedMatching OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C1861821 semapv:UnspecifiedMatching OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C3888417 semapv:UnspecifiedMatching OMIM:116800 cataract 5, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:CTNNA1 semapv:UnspecifiedMatching OMIM:116805 CTNNA1 skos:exactMatch ncbigene:1495 semapv:UnspecifiedMatching -OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:CTNNB1 semapv:UnspecifiedMatching OMIM:116806 CTNNB1 skos:exactMatch ncbigene:1499 semapv:UnspecifiedMatching -OMIM:116810 CTSB skos:exactMatch ncbigene:1508 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:CTNNB1 semapv:UnspecifiedMatching OMIM:116810 CTSB skos:exactMatch hgnc.symbol:CTSB semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch ncbigene:1508 semapv:UnspecifiedMatching OMIM:116820 CTSH skos:exactMatch hgnc.symbol:CTSH semapv:UnspecifiedMatching OMIM:116820 CTSH skos:exactMatch ncbigene:1512 semapv:UnspecifiedMatching OMIM:116830 CTSG skos:exactMatch hgnc.symbol:CTSG semapv:UnspecifiedMatching @@ -996,29 +996,29 @@ OMIM:116831 GZMH skos:exactMatch hgnc.symbol:GZMH semapv:UnspecifiedMatching OMIM:116831 GZMH skos:exactMatch ncbigene:2999 semapv:UnspecifiedMatching OMIM:116840 CTSD skos:exactMatch ncbigene:1509 semapv:UnspecifiedMatching OMIM:116840 CTSD skos:exactMatch hgnc.symbol:CTSD semapv:UnspecifiedMatching -OMIM:116845 CTSS skos:exactMatch ncbigene:1520 semapv:UnspecifiedMatching OMIM:116845 CTSS skos:exactMatch hgnc.symbol:CTSS semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch ncbigene:1520 semapv:UnspecifiedMatching OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C1366911 semapv:UnspecifiedMatching OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C2919945 semapv:UnspecifiedMatching OMIM:116860 cerebral cavernous malformations skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching OMIM:116880 CTSL skos:exactMatch hgnc.symbol:CTSL semapv:UnspecifiedMatching OMIM:116880 CTSL skos:exactMatch ncbigene:1514 semapv:UnspecifiedMatching -OMIM:116890 CTSE skos:exactMatch hgnc.symbol:CTSE semapv:UnspecifiedMatching OMIM:116890 CTSE skos:exactMatch ncbigene:1510 semapv:UnspecifiedMatching -OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:CUX1 semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch hgnc.symbol:CTSE semapv:UnspecifiedMatching OMIM:116896 CUX1 skos:exactMatch ncbigene:1523 semapv:UnspecifiedMatching -OMIM:116897 CEBPA skos:exactMatch ncbigene:1050 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:CUX1 semapv:UnspecifiedMatching OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:CEBPA semapv:UnspecifiedMatching -OMIM:116898 CEBPD skos:exactMatch ncbigene:1052 semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch ncbigene:1050 semapv:UnspecifiedMatching OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:CEBPD semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch ncbigene:1052 semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch UMLS:C0249197 semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch UMLS:C4015938 semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:CDKN1A semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch ncbigene:1026 semapv:UnspecifiedMatching OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:CKS1B semapv:UnspecifiedMatching OMIM:116900 CKS1B skos:exactMatch ncbigene:1163 semapv:UnspecifiedMatching -OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:CKS2 semapv:UnspecifiedMatching OMIM:116901 CKS2 skos:exactMatch ncbigene:1164 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:CKS2 semapv:UnspecifiedMatching OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching @@ -1050,51 +1050,51 @@ OMIM:116955 CNBP skos:exactMatch hgnc.symbol:CNBP semapv:UnspecifiedMatching OMIM:116955 CNBP skos:exactMatch ncbigene:7555 semapv:UnspecifiedMatching OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:RBL1 semapv:UnspecifiedMatching OMIM:116957 RBL1 skos:exactMatch ncbigene:5933 semapv:UnspecifiedMatching -OMIM:116960 MORF4 skos:exactMatch ncbigene:10934 semapv:UnspecifiedMatching OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:MORF4 semapv:UnspecifiedMatching -OMIM:117000 central core disease of muscle skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching -OMIM:117000 central core disease of muscle skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching -OMIM:117000 central core disease of muscle skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching -OMIM:117000 central core disease of muscle skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching -OMIM:117000 central core disease of muscle skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch ncbigene:10934 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch hgnc.symbol:CENPA semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch ncbigene:1058 semapv:UnspecifiedMatching OMIM:117140 CENPB skos:exactMatch ncbigene:1059 semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch hgnc.symbol:CENPB semapv:UnspecifiedMatching OMIM:117140 CENPB skos:exactMatch UMLS:C1413339 semapv:UnspecifiedMatching -OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:CENPC semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch hgnc.symbol:CENPB semapv:UnspecifiedMatching OMIM:117141 CENPC1 skos:exactMatch ncbigene:1060 semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:CENPC semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch UMLS:C1413342 semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch UMLS:C4015080 semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch hgnc.symbol:CENPE semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch ncbigene:1062 semapv:UnspecifiedMatching OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching -OMIM:117340 CDR2 skos:exactMatch ncbigene:1039 semapv:UnspecifiedMatching OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:CDR2 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch UMLS:C4551477 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch ncbigene:1039 semapv:UnspecifiedMatching OMIM:117550 sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch UMLS:C4551477 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching OMIM:117700 CP skos:exactMatch hgnc.symbol:CP semapv:UnspecifiedMatching OMIM:117700 CP skos:exactMatch ncbigene:1356 semapv:UnspecifiedMatching OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:HSPD1 semapv:UnspecifiedMatching OMIM:118190 HSPD1 skos:exactMatch ncbigene:3329 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0007959 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0751036 semapv:UnspecifiedMatching -OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching -OMIM:118400 cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching +OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching OMIM:118400 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching +OMIM:118400 cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch UMLS:C1413396 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:CHN1 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch ncbigene:1123 semapv:UnspecifiedMatching -OMIM:118425 CLCN1 skos:exactMatch ncbigene:1180 semapv:UnspecifiedMatching OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:CLCN1 semapv:UnspecifiedMatching -OMIM:118440 CCK skos:exactMatch hgnc.symbol:CCK semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch ncbigene:1180 semapv:UnspecifiedMatching OMIM:118440 CCK skos:exactMatch ncbigene:885 semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch hgnc.symbol:CCK semapv:UnspecifiedMatching OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:CCKAR semapv:UnspecifiedMatching OMIM:118444 CCKAR skos:exactMatch ncbigene:886 semapv:UnspecifiedMatching OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:CCKBR semapv:UnspecifiedMatching @@ -1103,8 +1103,8 @@ OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:CYP7A1 semapv:UnspecifiedMatching OMIM:118455 CYP7A1 skos:exactMatch ncbigene:1581 semapv:UnspecifiedMatching OMIM:118470 CETP skos:exactMatch ncbigene:1071 semapv:UnspecifiedMatching OMIM:118470 CETP skos:exactMatch hgnc.symbol:CETP semapv:UnspecifiedMatching -OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:CYP11A1 semapv:UnspecifiedMatching OMIM:118485 CYP11A1 skos:exactMatch ncbigene:1583 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:CYP11A1 semapv:UnspecifiedMatching OMIM:118490 CHAT skos:exactMatch hgnc.symbol:CHAT semapv:UnspecifiedMatching OMIM:118490 CHAT skos:exactMatch ncbigene:1103 semapv:UnspecifiedMatching OMIM:118491 CHKA skos:exactMatch hgnc.symbol:CHKA semapv:UnspecifiedMatching @@ -1122,55 +1122,55 @@ OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:CHRM5 semapv:UnspecifiedMatching OMIM:118496 CHRM5 skos:exactMatch ncbigene:1133 semapv:UnspecifiedMatching OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:CHRNA2 semapv:UnspecifiedMatching OMIM:118502 CHRNA2 skos:exactMatch ncbigene:1135 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch ncbigene:1136 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:CHRNA3 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1413403 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C2677571 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:CHRNA3 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch ncbigene:1136 semapv:UnspecifiedMatching OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:CHRNA4 semapv:UnspecifiedMatching OMIM:118504 CHRNA4 skos:exactMatch ncbigene:1137 semapv:UnspecifiedMatching -OMIM:118505 CHRNA5 skos:exactMatch ncbigene:1138 semapv:UnspecifiedMatching OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:CHRNA5 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch ncbigene:1138 semapv:UnspecifiedMatching OMIM:118507 CHRNB2 skos:exactMatch ncbigene:1141 semapv:UnspecifiedMatching OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:CHRNB2 semapv:UnspecifiedMatching -OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:CHRNB3 semapv:UnspecifiedMatching OMIM:118508 CHRNB3 skos:exactMatch ncbigene:1142 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:CHRNB3 semapv:UnspecifiedMatching OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:CHRNB4 semapv:UnspecifiedMatching OMIM:118509 CHRNB4 skos:exactMatch ncbigene:1143 semapv:UnspecifiedMatching OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:CHRM1 semapv:UnspecifiedMatching OMIM:118510 CHRM1 skos:exactMatch ncbigene:1128 semapv:UnspecifiedMatching OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:CHRNA7 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch ncbigene:1139 semapv:UnspecifiedMatching OMIM:118511 CHRNA7 skos:exactMatch UMLS:C1413406 semapv:UnspecifiedMatching -OMIM:118600 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch ncbigene:1139 semapv:UnspecifiedMatching OMIM:118600 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching -OMIM:118661 VCAN skos:exactMatch hgnc.symbol:VCAN semapv:UnspecifiedMatching +OMIM:118600 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching OMIM:118661 VCAN skos:exactMatch ncbigene:1462 semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch hgnc.symbol:VCAN semapv:UnspecifiedMatching OMIM:118700 chorea, benign hereditary skos:exactMatch UMLS:C0393584 semapv:UnspecifiedMatching OMIM:118700 chorea, benign hereditary skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching -OMIM:118820 CSH2 skos:exactMatch ncbigene:1443 semapv:UnspecifiedMatching OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:CSH2 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch ncbigene:1443 semapv:UnspecifiedMatching OMIM:118825 CHML skos:exactMatch hgnc.symbol:CHML semapv:UnspecifiedMatching OMIM:118825 CHML skos:exactMatch ncbigene:1122 semapv:UnspecifiedMatching -OMIM:118850 CGA skos:exactMatch hgnc.symbol:CGA semapv:UnspecifiedMatching OMIM:118850 CGA skos:exactMatch ncbigene:1081 semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch hgnc.symbol:CGA semapv:UnspecifiedMatching OMIM:118860 CGB skos:exactMatch hgnc.symbol:CGB3 semapv:UnspecifiedMatching OMIM:118860 CGB skos:exactMatch ncbigene:1082 semapv:UnspecifiedMatching -OMIM:118888 CTRL skos:exactMatch ncbigene:1506 semapv:UnspecifiedMatching OMIM:118888 CTRL skos:exactMatch hgnc.symbol:CTRL semapv:UnspecifiedMatching -OMIM:118890 CTRB1 skos:exactMatch ncbigene:1504 semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch ncbigene:1506 semapv:UnspecifiedMatching OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:CTRB1 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch ncbigene:1504 semapv:UnspecifiedMatching OMIM:118910 CHGA skos:exactMatch hgnc.symbol:CHGA semapv:UnspecifiedMatching OMIM:118910 CHGA skos:exactMatch ncbigene:1113 semapv:UnspecifiedMatching -OMIM:118920 CHGB skos:exactMatch hgnc.symbol:CHGB semapv:UnspecifiedMatching OMIM:118920 CHGB skos:exactMatch ncbigene:1114 semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch hgnc.symbol:CHGB semapv:UnspecifiedMatching OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:SCG2 semapv:UnspecifiedMatching OMIM:118930 SCG2 skos:exactMatch ncbigene:7857 semapv:UnspecifiedMatching -OMIM:118938 CMA1 skos:exactMatch ncbigene:1215 semapv:UnspecifiedMatching OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:CMA1 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch ncbigene:1215 semapv:UnspecifiedMatching OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:CYMP semapv:UnspecifiedMatching OMIM:118945 CNTF skos:exactMatch hgnc.symbol:CNTF semapv:UnspecifiedMatching OMIM:118945 CNTF skos:exactMatch ncbigene:1270 semapv:UnspecifiedMatching @@ -1185,128 +1185,128 @@ OMIM:118960 CLTA skos:exactMatch hgnc.symbol:CLTA semapv:UnspecifiedMatching OMIM:118960 CLTA skos:exactMatch ncbigene:1211 semapv:UnspecifiedMatching OMIM:118970 CLTB skos:exactMatch ncbigene:1212 semapv:UnspecifiedMatching OMIM:118970 CLTB skos:exactMatch hgnc.symbol:CLTB semapv:UnspecifiedMatching -OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatching OMIM:118990 ITPRID2 skos:exactMatch ncbigene:6744 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatching OMIM:119500 popliteal pterygium syndrome skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching OMIM:119500 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:119900 digital clubbing, isolated congenital skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:119900 digital clubbing, isolated congenital skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching +OMIM:119900 digital clubbing, isolated congenital skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch ncbigene:1285 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:COL4A3 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C1332774 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746547 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:COL4A2 semapv:UnspecifiedMatching OMIM:120090 COL4A2 skos:exactMatch ncbigene:1284 semapv:UnspecifiedMatching -OMIM:120105 CLPS skos:exactMatch ncbigene:1208 semapv:UnspecifiedMatching OMIM:120105 CLPS skos:exactMatch hgnc.symbol:CLPS semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch ncbigene:1208 semapv:UnspecifiedMatching OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:COL10A1 semapv:UnspecifiedMatching OMIM:120110 COL10A1 skos:exactMatch ncbigene:1300 semapv:UnspecifiedMatching -OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:COL7A1 semapv:UnspecifiedMatching OMIM:120120 COL7A1 skos:exactMatch ncbigene:1294 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:COL7A1 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C1413582 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C1867327 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193157 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193158 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C1867327 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C1413582 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:COL4A1 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch ncbigene:1282 semapv:UnspecifiedMatching -OMIM:120131 COL4A4 skos:exactMatch ncbigene:1286 semapv:UnspecifiedMatching OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:COL4A4 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch ncbigene:1286 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C1852989 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch ncbigene:1280 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:COL2A1 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C4225640 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C2020284 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836683 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:COL2A1 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch ncbigene:1280 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C4225640 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836081 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1413580 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0700635 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C0542428 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0432214 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0432214 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C0023234 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0700635 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1413580 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:COL1A1 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015952 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015951 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015950 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:COL1A1 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch ncbigene:1277 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015949 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015950 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C1332772 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015948 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0029434 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015948 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch ncbigene:1278 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015949 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4303789 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch ncbigene:1278 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:COL1A2 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310981 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310980 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C1851801 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015953 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C1332773 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015953 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:COL19A1 semapv:UnspecifiedMatching OMIM:120165 COL19A1 skos:exactMatch ncbigene:1310 semapv:UnspecifiedMatching -OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:COL3A1 semapv:UnspecifiedMatching OMIM:120180 COL3A1 skos:exactMatch ncbigene:1281 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:COL3A1 semapv:UnspecifiedMatching OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:COL5A2 semapv:UnspecifiedMatching OMIM:120190 COL5A2 skos:exactMatch ncbigene:1290 semapv:UnspecifiedMatching OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:COL9A1 semapv:UnspecifiedMatching OMIM:120210 COL9A1 skos:exactMatch ncbigene:1297 semapv:UnspecifiedMatching OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:COL5A1 semapv:UnspecifiedMatching OMIM:120215 COL5A1 skos:exactMatch ncbigene:1289 semapv:UnspecifiedMatching -OMIM:120216 COL5A3 skos:exactMatch ncbigene:50509 semapv:UnspecifiedMatching OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:COL5A3 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch ncbigene:50509 semapv:UnspecifiedMatching OMIM:120220 COL6A1 skos:exactMatch ncbigene:1291 semapv:UnspecifiedMatching OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:COL6A1 semapv:UnspecifiedMatching OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:COL6A2 semapv:UnspecifiedMatching OMIM:120240 COL6A2 skos:exactMatch ncbigene:1292 semapv:UnspecifiedMatching OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:COL6A3 semapv:UnspecifiedMatching OMIM:120250 COL6A3 skos:exactMatch ncbigene:1293 semapv:UnspecifiedMatching -OMIM:120251 COL8A1 skos:exactMatch ncbigene:1295 semapv:UnspecifiedMatching OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:COL8A1 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch ncbigene:1295 semapv:UnspecifiedMatching OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:COL8A2 semapv:UnspecifiedMatching OMIM:120252 COL8A2 skos:exactMatch ncbigene:1296 semapv:UnspecifiedMatching -OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:COL9A2 semapv:UnspecifiedMatching OMIM:120260 COL9A2 skos:exactMatch ncbigene:1298 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:COL9A2 semapv:UnspecifiedMatching OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:COL9A3 semapv:UnspecifiedMatching OMIM:120270 COL9A3 skos:exactMatch ncbigene:1299 semapv:UnspecifiedMatching OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:COL11A1 semapv:UnspecifiedMatching OMIM:120280 COL11A1 skos:exactMatch ncbigene:1301 semapv:UnspecifiedMatching -OMIM:120290 COL11A2 skos:exactMatch ncbigene:1302 semapv:UnspecifiedMatching OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:COL11A2 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch ncbigene:1302 semapv:UnspecifiedMatching OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:COL12A1 semapv:UnspecifiedMatching OMIM:120320 COL12A1 skos:exactMatch ncbigene:1303 semapv:UnspecifiedMatching OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:COL14A1 semapv:UnspecifiedMatching OMIM:120324 COL14A1 skos:exactMatch ncbigene:7373 semapv:UnspecifiedMatching -OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:COL15A1 semapv:UnspecifiedMatching OMIM:120325 COL15A1 skos:exactMatch ncbigene:1306 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:COL15A1 semapv:UnspecifiedMatching OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:COL16A1 semapv:UnspecifiedMatching OMIM:120326 COL16A1 skos:exactMatch ncbigene:1307 semapv:UnspecifiedMatching OMIM:120328 COL18A1 skos:exactMatch UMLS:C1332771 semapv:UnspecifiedMatching @@ -1322,28 +1322,28 @@ OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:MMP1 semapv:UnspecifiedMatching OMIM:120353 MMP1 skos:exactMatch ncbigene:4312 semapv:UnspecifiedMatching OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:MMP8 semapv:UnspecifiedMatching OMIM:120355 MMP8 skos:exactMatch ncbigene:4317 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch ncbigene:4313 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch UMLS:C1334522 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:MMP2 semapv:UnspecifiedMatching -OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:MMP9 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch ncbigene:4313 semapv:UnspecifiedMatching OMIM:120361 MMP9 skos:exactMatch ncbigene:4318 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:MMP9 semapv:UnspecifiedMatching OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:CSF1 semapv:UnspecifiedMatching OMIM:120420 CSF1 skos:exactMatch ncbigene:1435 semapv:UnspecifiedMatching OMIM:120435 lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching OMIM:120435 lynch syndrome 1 skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch ncbigene:4292 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:MLH1 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C4015969 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:MLH1 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C0879389 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch ncbigene:4292 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:120470 DCC skos:exactMatch hgnc.symbol:DCC semapv:UnspecifiedMatching OMIM:120470 DCC skos:exactMatch ncbigene:1630 semapv:UnspecifiedMatching -OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching OMIM:120520 MME skos:exactMatch hgnc.symbol:MME semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching OMIM:120550 C1QA skos:exactMatch hgnc.symbol:C1QA semapv:UnspecifiedMatching OMIM:120550 C1QA skos:exactMatch ncbigene:712 semapv:UnspecifiedMatching OMIM:120570 C1QB skos:exactMatch hgnc.symbol:C1QB semapv:UnspecifiedMatching @@ -1354,63 +1354,63 @@ OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:CD93 semapv:UnspecifiedMatching OMIM:120577 C1QR1 skos:exactMatch ncbigene:22918 semapv:UnspecifiedMatching OMIM:120580 C1S skos:exactMatch ncbigene:716 semapv:UnspecifiedMatching OMIM:120580 C1S skos:exactMatch hgnc.symbol:C1S semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch UMLS:C1413694 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch hgnc.symbol:CR1 semapv:UnspecifiedMatching OMIM:120620 CR1 skos:exactMatch ncbigene:1378 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch hgnc.symbol:CR1 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch UMLS:C1413694 semapv:UnspecifiedMatching OMIM:120650 CR2 skos:exactMatch hgnc.symbol:CR2 semapv:UnspecifiedMatching OMIM:120650 CR2 skos:exactMatch ncbigene:1380 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C4017429 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch ncbigene:718 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch hgnc.symbol:C3 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C4015972 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C1332656 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C4017429 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C2752037 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C1332656 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C1332655 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C4015971 semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch UMLS:C1412999 semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch UMLS:C3280642 semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch hgnc.symbol:C4A semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch ncbigene:720 semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch ncbigene:721 semapv:UnspecifiedMatching OMIM:120820 C4B skos:exactMatch UMLS:C1413000 semapv:UnspecifiedMatching OMIM:120820 C4B skos:exactMatch hgnc.symbol:C4B semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch ncbigene:721 semapv:UnspecifiedMatching -OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:C4BPA semapv:UnspecifiedMatching OMIM:120830 C4BPA skos:exactMatch ncbigene:722 semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:C4BPA semapv:UnspecifiedMatching OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:C4BPB semapv:UnspecifiedMatching OMIM:120831 C4BPB skos:exactMatch ncbigene:725 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch ncbigene:727 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch hgnc.symbol:C5 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C1367710 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C3810402 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching -OMIM:120920 CD46 skos:exactMatch hgnc.symbol:CD46 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch hgnc.symbol:C5 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch ncbigene:727 semapv:UnspecifiedMatching OMIM:120920 CD46 skos:exactMatch ncbigene:4179 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch hgnc.symbol:CD46 semapv:UnspecifiedMatching OMIM:120930 C8G skos:exactMatch hgnc.symbol:C8G semapv:UnspecifiedMatching OMIM:120930 C8G skos:exactMatch ncbigene:733 semapv:UnspecifiedMatching OMIM:120940 C9 skos:exactMatch hgnc.symbol:C9 semapv:UnspecifiedMatching OMIM:120940 C9 skos:exactMatch ncbigene:735 semapv:UnspecifiedMatching OMIM:120950 C8A skos:exactMatch hgnc.symbol:C8A semapv:UnspecifiedMatching OMIM:120950 C8A skos:exactMatch ncbigene:731 semapv:UnspecifiedMatching -OMIM:120960 C8B skos:exactMatch ncbigene:732 semapv:UnspecifiedMatching OMIM:120960 C8B skos:exactMatch hgnc.symbol:C8B semapv:UnspecifiedMatching -OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:ITGAM semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch ncbigene:732 semapv:UnspecifiedMatching OMIM:120980 ITGAM skos:exactMatch ncbigene:3684 semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:ITGAM semapv:UnspecifiedMatching OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:CCN2 semapv:UnspecifiedMatching OMIM:121009 CCN2 skos:exactMatch ncbigene:1490 semapv:UnspecifiedMatching OMIM:121010 PPBP skos:exactMatch hgnc.symbol:PPBP semapv:UnspecifiedMatching OMIM:121010 PPBP skos:exactMatch ncbigene:5473 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C2673761 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch ncbigene:2706 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:GJB2 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C5394556 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch ncbigene:2706 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C2673761 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C2673760 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C1835672 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C1415077 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C2673759 semapv:UnspecifiedMatching @@ -1424,30 +1424,30 @@ OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:GJA3 semapv:UnspecifiedMatching OMIM:121015 GJA3 skos:exactMatch ncbigene:2700 semapv:UnspecifiedMatching OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching -OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching OMIM:121300 coproporphyria, hereditary skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching -OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching +OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching OMIM:121360 CBFB skos:exactMatch ncbigene:865 semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching -OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching -OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching +OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:SERPINA6 semapv:UnspecifiedMatching OMIM:122500 SERPINA6 skos:exactMatch ncbigene:866 semapv:UnspecifiedMatching OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:CRHBP semapv:UnspecifiedMatching OMIM:122559 CRHBP skos:exactMatch ncbigene:1393 semapv:UnspecifiedMatching -OMIM:122560 CRH skos:exactMatch ncbigene:1392 semapv:UnspecifiedMatching OMIM:122560 CRH skos:exactMatch hgnc.symbol:CRH semapv:UnspecifiedMatching -OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:CRHR1 semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch ncbigene:1392 semapv:UnspecifiedMatching OMIM:122561 CRHR1 skos:exactMatch ncbigene:1394 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:CRHR1 semapv:UnspecifiedMatching OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching OMIM:122700 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching @@ -1455,200 +1455,200 @@ OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:CYP2A6 semapv:UnspecifiedMatching OMIM:122720 CYP2A6 skos:exactMatch ncbigene:1548 semapv:UnspecifiedMatching OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch UMLS:C1852510 semapv:UnspecifiedMatching OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching -OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching -OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:MSX2 semapv:UnspecifiedMatching +OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching OMIM:123101 MSX2 skos:exactMatch ncbigene:4488 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:MSX2 semapv:UnspecifiedMatching OMIM:123150 jackson-weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching OMIM:123150 jackson-weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch hgnc.symbol:CRP semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch ncbigene:1401 semapv:UnspecifiedMatching -OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching OMIM:123280 CKB skos:exactMatch hgnc.symbol:CKB semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching OMIM:123290 CKMT1B skos:exactMatch ncbigene:1159 semapv:UnspecifiedMatching OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:CKMT1B semapv:UnspecifiedMatching -OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:CKMT2 semapv:UnspecifiedMatching OMIM:123295 CKMT2 skos:exactMatch ncbigene:1160 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:CKMT2 semapv:UnspecifiedMatching OMIM:123310 CKM skos:exactMatch hgnc.symbol:CKM semapv:UnspecifiedMatching OMIM:123310 CKM skos:exactMatch ncbigene:1158 semapv:UnspecifiedMatching OMIM:123450 cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching OMIM:123450 cri-du-chat syndrome skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching -OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:CRYAA semapv:UnspecifiedMatching OMIM:123580 CRYAA skos:exactMatch ncbigene:1409 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch ncbigene:1410 semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:CRYAA semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:CRYAB semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C4015992 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch ncbigene:1410 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C4015991 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C1439328 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C3151236 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C1439328 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C0302254 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching -OMIM:123610 CRYBA1 skos:exactMatch ncbigene:1411 semapv:UnspecifiedMatching OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:CRYBA1 semapv:UnspecifiedMatching -OMIM:123620 CRYBB2 skos:exactMatch ncbigene:1415 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch ncbigene:1411 semapv:UnspecifiedMatching OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:CRYBB2 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch ncbigene:1415 semapv:UnspecifiedMatching OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:CRYBB3 semapv:UnspecifiedMatching OMIM:123630 CRYBB3 skos:exactMatch ncbigene:1417 semapv:UnspecifiedMatching -OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:CRYBA4 semapv:UnspecifiedMatching OMIM:123631 CRYBA4 skos:exactMatch ncbigene:1413 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:CRYBA4 semapv:UnspecifiedMatching OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:CRYGA semapv:UnspecifiedMatching OMIM:123660 CRYGA skos:exactMatch ncbigene:1418 semapv:UnspecifiedMatching OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:CRYGB semapv:UnspecifiedMatching OMIM:123670 CRYGB skos:exactMatch ncbigene:1419 semapv:UnspecifiedMatching -OMIM:123680 CRYGC skos:exactMatch ncbigene:1420 semapv:UnspecifiedMatching OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:CRYGC semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch ncbigene:1420 semapv:UnspecifiedMatching OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:CRYGD semapv:UnspecifiedMatching OMIM:123690 CRYGD skos:exactMatch ncbigene:1421 semapv:UnspecifiedMatching -OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:CRYZ semapv:UnspecifiedMatching OMIM:123691 CRYZ skos:exactMatch ncbigene:1429 semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:CRYZ semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch UMLS:C1418396 semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:PCYT1A semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch ncbigene:5130 semapv:UnspecifiedMatching -OMIM:123730 CRYGS skos:exactMatch ncbigene:1427 semapv:UnspecifiedMatching OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:CRYGS semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch ncbigene:1427 semapv:UnspecifiedMatching OMIM:123740 CRYM skos:exactMatch hgnc.symbol:CRYM semapv:UnspecifiedMatching OMIM:123740 CRYM skos:exactMatch ncbigene:1428 semapv:UnspecifiedMatching -OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching +OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:ATF1 semapv:UnspecifiedMatching OMIM:123803 ATF1 skos:exactMatch ncbigene:466 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch ncbigene:5139 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:PDE3A semapv:UnspecifiedMatching OMIM:123805 PDE3A skos:exactMatch UMLS:C1418418 semapv:UnspecifiedMatching OMIM:123805 PDE3A skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:PDE3A semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch ncbigene:5139 semapv:UnspecifiedMatching OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:CREB1 semapv:UnspecifiedMatching OMIM:123810 CREB1 skos:exactMatch ncbigene:1385 semapv:UnspecifiedMatching OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:ATF2 semapv:UnspecifiedMatching OMIM:123811 ATF2 skos:exactMatch ncbigene:1386 semapv:UnspecifiedMatching -OMIM:123812 CREM skos:exactMatch hgnc.symbol:CREM semapv:UnspecifiedMatching OMIM:123812 CREM skos:exactMatch ncbigene:1390 semapv:UnspecifiedMatching -OMIM:123825 CNGA1 skos:exactMatch ncbigene:1259 semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch hgnc.symbol:CREM semapv:UnspecifiedMatching OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:CNGA1 semapv:UnspecifiedMatching -OMIM:123828 CDK3 skos:exactMatch ncbigene:1018 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch ncbigene:1259 semapv:UnspecifiedMatching OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:CDK3 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch ncbigene:1018 semapv:UnspecifiedMatching OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:CDK4 semapv:UnspecifiedMatching OMIM:123829 CDK4 skos:exactMatch ncbigene:1019 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch ncbigene:1267 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch hgnc.symbol:CNP semapv:UnspecifiedMatching OMIM:123830 CNP skos:exactMatch UMLS:C1413553 semapv:UnspecifiedMatching OMIM:123830 CNP skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch hgnc.symbol:CNP semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch ncbigene:1267 semapv:UnspecifiedMatching OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:CDK5 semapv:UnspecifiedMatching OMIM:123831 CDK5 skos:exactMatch ncbigene:1020 semapv:UnspecifiedMatching -OMIM:123832 CDKN3 skos:exactMatch ncbigene:1033 semapv:UnspecifiedMatching OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:CDKN3 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch ncbigene:1033 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:CCND2 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch UMLS:C1413173 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch UMLS:C4014742 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:CCND2 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch ncbigene:894 semapv:UnspecifiedMatching -OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:CCND3 semapv:UnspecifiedMatching OMIM:123834 CCND3 skos:exactMatch ncbigene:896 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:CCND3 semapv:UnspecifiedMatching OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:CCNA2 semapv:UnspecifiedMatching OMIM:123835 CCNA2 skos:exactMatch ncbigene:890 semapv:UnspecifiedMatching -OMIM:123836 CCNB1 skos:exactMatch ncbigene:891 semapv:UnspecifiedMatching OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:CCNB1 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch ncbigene:891 semapv:UnspecifiedMatching OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:CCNE1 semapv:UnspecifiedMatching OMIM:123837 CCNE1 skos:exactMatch ncbigene:898 semapv:UnspecifiedMatching OMIM:123838 CCNC skos:exactMatch hgnc.symbol:CCNC semapv:UnspecifiedMatching OMIM:123838 CCNC skos:exactMatch ncbigene:892 semapv:UnspecifiedMatching -OMIM:123840 PPIA skos:exactMatch hgnc.symbol:PPIA semapv:UnspecifiedMatching OMIM:123840 PPIA skos:exactMatch ncbigene:5478 semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch hgnc.symbol:PPIA semapv:UnspecifiedMatching OMIM:123841 PPIB skos:exactMatch hgnc.symbol:PPIB semapv:UnspecifiedMatching OMIM:123841 PPIB skos:exactMatch ncbigene:5479 semapv:UnspecifiedMatching -OMIM:123842 PPIC skos:exactMatch ncbigene:5480 semapv:UnspecifiedMatching OMIM:123842 PPIC skos:exactMatch hgnc.symbol:PPIC semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch ncbigene:5480 semapv:UnspecifiedMatching OMIM:123855 CST1 skos:exactMatch hgnc.symbol:CST1 semapv:UnspecifiedMatching OMIM:123855 CST1 skos:exactMatch ncbigene:1469 semapv:UnspecifiedMatching OMIM:123856 CST2 skos:exactMatch hgnc.symbol:CST2 semapv:UnspecifiedMatching OMIM:123856 CST2 skos:exactMatch ncbigene:1470 semapv:UnspecifiedMatching -OMIM:123857 CST4 skos:exactMatch hgnc.symbol:CST4 semapv:UnspecifiedMatching OMIM:123857 CST4 skos:exactMatch ncbigene:1472 semapv:UnspecifiedMatching -OMIM:123858 CST5 skos:exactMatch hgnc.symbol:CST5 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch hgnc.symbol:CST4 semapv:UnspecifiedMatching OMIM:123858 CST5 skos:exactMatch ncbigene:1473 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch ncbigene:833 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch hgnc.symbol:CST5 semapv:UnspecifiedMatching OMIM:123859 CARS1 skos:exactMatch UMLS:C1413126 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:CARS1 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch ncbigene:833 semapv:UnspecifiedMatching OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:CTPS1 semapv:UnspecifiedMatching OMIM:123860 CTPS1 skos:exactMatch ncbigene:1503 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch ncbigene:1327 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:COX4I1 semapv:UnspecifiedMatching OMIM:123864 COX4I1 skos:exactMatch UMLS:C1413634 semapv:UnspecifiedMatching OMIM:123864 COX4I1 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:COX4I1 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch ncbigene:1327 semapv:UnspecifiedMatching -OMIM:123866 COX5B skos:exactMatch ncbigene:1329 semapv:UnspecifiedMatching OMIM:123866 COX5B skos:exactMatch hgnc.symbol:COX5B semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch ncbigene:1329 semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch UMLS:C1413661 semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch hgnc.symbol:COX8A semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch ncbigene:1351 semapv:UnspecifiedMatching OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:CRIP1 semapv:UnspecifiedMatching OMIM:123875 CRIP1 skos:exactMatch ncbigene:1396 semapv:UnspecifiedMatching -OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:CSRP1 semapv:UnspecifiedMatching OMIM:123876 CSRP1 skos:exactMatch ncbigene:1465 semapv:UnspecifiedMatching -OMIM:123885 S100A8 skos:exactMatch ncbigene:6279 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:CSRP1 semapv:UnspecifiedMatching OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:S100A8 semapv:UnspecifiedMatching -OMIM:123886 S100A9 skos:exactMatch ncbigene:6280 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch ncbigene:6279 semapv:UnspecifiedMatching OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:S100A9 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch ncbigene:6280 semapv:UnspecifiedMatching OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:IL10RB semapv:UnspecifiedMatching OMIM:123889 IL10RB skos:exactMatch ncbigene:3588 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch ncbigene:1493 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:CTLA4 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C5436965 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C4015214 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:CTLA4 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1852391 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C1833450 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1852391 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C1332802 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching OMIM:123900 EZR skos:exactMatch hgnc.symbol:EZR semapv:UnspecifiedMatching OMIM:123900 EZR skos:exactMatch ncbigene:7430 semapv:UnspecifiedMatching -OMIM:123910 GZMB skos:exactMatch hgnc.symbol:GZMB semapv:UnspecifiedMatching OMIM:123910 GZMB skos:exactMatch ncbigene:3002 semapv:UnspecifiedMatching -OMIM:123920 CDA skos:exactMatch hgnc.symbol:CDA semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch hgnc.symbol:GZMB semapv:UnspecifiedMatching OMIM:123920 CDA skos:exactMatch ncbigene:978 semapv:UnspecifiedMatching -OMIM:123930 CYP2B6 skos:exactMatch ncbigene:1555 semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch hgnc.symbol:CDA semapv:UnspecifiedMatching OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:CYP2B6 semapv:UnspecifiedMatching -OMIM:123940 KRT4 skos:exactMatch ncbigene:3851 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch ncbigene:1555 semapv:UnspecifiedMatching OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:KRT4 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch ncbigene:3851 semapv:UnspecifiedMatching OMIM:123970 CYCS skos:exactMatch hgnc.symbol:CYCS semapv:UnspecifiedMatching OMIM:123970 CYCS skos:exactMatch ncbigene:54205 semapv:UnspecifiedMatching OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:CYC1 semapv:UnspecifiedMatching OMIM:123980 CYC1 skos:exactMatch ncbigene:1537 semapv:UnspecifiedMatching -OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:COX7A1 semapv:UnspecifiedMatching OMIM:123995 COX7A1 skos:exactMatch ncbigene:1346 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:COX7A1 semapv:UnspecifiedMatching OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:COX7A2 semapv:UnspecifiedMatching OMIM:123996 COX7A2 skos:exactMatch ncbigene:1347 semapv:UnspecifiedMatching OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:COX7A2P2 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch ncbigene:1576 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C1176140 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4016007 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4017437 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:CYP3A4 semapv:UnspecifiedMatching -OMIM:124015 POR skos:exactMatch ncbigene:5447 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4016007 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C1176140 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4017437 semapv:UnspecifiedMatching OMIM:124015 POR skos:exactMatch hgnc.symbol:POR semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch ncbigene:5447 semapv:UnspecifiedMatching OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:CYP2C19 semapv:UnspecifiedMatching OMIM:124020 CYP2C19 skos:exactMatch ncbigene:1557 semapv:UnspecifiedMatching OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:CYP2D6 semapv:UnspecifiedMatching OMIM:124030 CYP2D6 skos:exactMatch ncbigene:1565 semapv:UnspecifiedMatching OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:CYP2E1 semapv:UnspecifiedMatching OMIM:124040 CYP2E1 skos:exactMatch ncbigene:1571 semapv:UnspecifiedMatching -OMIM:124050 DAO skos:exactMatch hgnc.symbol:DAO semapv:UnspecifiedMatching OMIM:124050 DAO skos:exactMatch ncbigene:1610 semapv:UnspecifiedMatching -OMIM:124060 CYP1A2 skos:exactMatch ncbigene:1544 semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch hgnc.symbol:DAO semapv:UnspecifiedMatching OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:CYP1A2 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch ncbigene:1544 semapv:UnspecifiedMatching OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:CYP2F1 semapv:UnspecifiedMatching OMIM:124070 CYP2F1 skos:exactMatch ncbigene:1572 semapv:UnspecifiedMatching OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:CYP4B1 semapv:UnspecifiedMatching OMIM:124075 CYP4B1 skos:exactMatch ncbigene:1580 semapv:UnspecifiedMatching OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:CYP11B2 semapv:UnspecifiedMatching OMIM:124080 CYP11B2 skos:exactMatch ncbigene:1585 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:COX6B1 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch ncbigene:1340 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:COX6B1 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch UMLS:C1539128 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching OMIM:124090 COX6C skos:exactMatch hgnc.symbol:COX6C semapv:UnspecifiedMatching @@ -1668,13 +1668,13 @@ OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia sko OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:DEFA1 semapv:UnspecifiedMatching OMIM:125220 DEFA1 skos:exactMatch ncbigene:1667 semapv:UnspecifiedMatching -OMIM:125240 CD55 skos:exactMatch hgnc.symbol:CD55 semapv:UnspecifiedMatching OMIM:125240 CD55 skos:exactMatch ncbigene:1604 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch hgnc.symbol:CD55 semapv:UnspecifiedMatching OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:3212 semapv:UnspecifiedMatching -OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching OMIM:125255 DCN skos:exactMatch hgnc.symbol:DCN semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:SULT2A1 semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch ncbigene:6822 semapv:UnspecifiedMatching OMIM:125264 DEK skos:exactMatch hgnc.symbol:DEK semapv:UnspecifiedMatching @@ -1683,18 +1683,18 @@ OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:REEP5 semapv:UnspecifiedMatching OMIM:125265 REEP5 skos:exactMatch ncbigene:7905 semapv:UnspecifiedMatching OMIM:125270 ALAD skos:exactMatch hgnc.symbol:ALAD semapv:UnspecifiedMatching OMIM:125270 ALAD skos:exactMatch ncbigene:210 semapv:UnspecifiedMatching -OMIM:125290 ALAS1 skos:exactMatch ncbigene:211 semapv:UnspecifiedMatching OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:ALAS1 semapv:UnspecifiedMatching -OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:DMTN semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch ncbigene:211 semapv:UnspecifiedMatching OMIM:125305 EPB49 skos:exactMatch ncbigene:2039 semapv:UnspecifiedMatching -OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:DMTN semapv:UnspecifiedMatching OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching -OMIM:125350 failure of tooth eruption, primary skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching OMIM:125350 failure of tooth eruption, primary skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching -OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching +OMIM:125350 failure of tooth eruption, primary skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C2931846 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching OMIM:125450 DCK skos:exactMatch hgnc.symbol:DCK semapv:UnspecifiedMatching OMIM:125450 DCK skos:exactMatch ncbigene:1633 semapv:UnspecifiedMatching OMIM:125480 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching @@ -1702,8 +1702,8 @@ OMIM:125485 DSPP skos:exactMatch hgnc.symbol:DSPP semapv:UnspecifiedMatching OMIM:125485 DSPP skos:exactMatch ncbigene:1834 semapv:UnspecifiedMatching OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:DNASE1 semapv:UnspecifiedMatching OMIM:125505 DNASE1 skos:exactMatch ncbigene:1773 semapv:UnspecifiedMatching -OMIM:125597 DPT skos:exactMatch hgnc.symbol:DPT semapv:UnspecifiedMatching OMIM:125597 DPT skos:exactMatch ncbigene:1805 semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch hgnc.symbol:DPT semapv:UnspecifiedMatching OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:DSC1 semapv:UnspecifiedMatching OMIM:125643 DSC1 skos:exactMatch ncbigene:1823 semapv:UnspecifiedMatching OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:DSC2 semapv:UnspecifiedMatching @@ -1711,11 +1711,11 @@ OMIM:125645 DSC2 skos:exactMatch ncbigene:1824 semapv:UnspecifiedMatching OMIM:125647 DSP skos:exactMatch hgnc.symbol:DSP semapv:UnspecifiedMatching OMIM:125647 DSP skos:exactMatch ncbigene:1832 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch ncbigene:1674 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch hgnc.symbol:DES semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1413980 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:DSG1 semapv:UnspecifiedMatching OMIM:125670 DSG1 skos:exactMatch ncbigene:1828 semapv:UnspecifiedMatching OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:DSG2 semapv:UnspecifiedMatching @@ -1726,11 +1726,11 @@ OMIM:125852 iia 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:Unsp OMIM:125853 iia 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:125855 DGKA skos:exactMatch hgnc.symbol:DGKA semapv:UnspecifiedMatching OMIM:125855 DGKA skos:exactMatch ncbigene:1606 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C0919428 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C2675718 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C2675719 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch UMLS:C2675722 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C2675719 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:NQO1 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C0919428 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C2675718 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch ncbigene:1728 semapv:UnspecifiedMatching OMIM:125950 DBI skos:exactMatch ncbigene:1622 semapv:UnspecifiedMatching OMIM:125950 DBI skos:exactMatch hgnc.symbol:DBI semapv:UnspecifiedMatching @@ -1753,32 +1753,32 @@ OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:DPP6 semapv:UnspecifiedMatching OMIM:126141 DPP6 skos:exactMatch ncbigene:1804 semapv:UnspecifiedMatching OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:HBEGF semapv:UnspecifiedMatching OMIM:126150 HBEGF skos:exactMatch ncbigene:1839 semapv:UnspecifiedMatching -OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C3888106 semapv:UnspecifiedMatching -OMIM:126255 DLX2 skos:exactMatch ncbigene:1746 semapv:UnspecifiedMatching +OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:DLX2 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch ncbigene:1746 semapv:UnspecifiedMatching OMIM:126330 DNCM skos:exactMatch ncbigene:1784 semapv:UnspecifiedMatching OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:GADD45A semapv:UnspecifiedMatching OMIM:126335 GADD45A skos:exactMatch ncbigene:1647 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch ncbigene:1649 semapv:UnspecifiedMatching OMIM:126337 DDIT3 skos:exactMatch UMLS:C1413947 semapv:UnspecifiedMatching OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:DDIT3 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch ncbigene:1649 semapv:UnspecifiedMatching -OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:ERCC2 semapv:UnspecifiedMatching OMIM:126340 ERCC2 skos:exactMatch ncbigene:2068 semapv:UnspecifiedMatching -OMIM:126350 DNASE2 skos:exactMatch ncbigene:1777 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:ERCC2 semapv:UnspecifiedMatching OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:DNASE2 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch ncbigene:1777 semapv:UnspecifiedMatching OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:DNMT1 semapv:UnspecifiedMatching OMIM:126375 DNMT1 skos:exactMatch ncbigene:1786 semapv:UnspecifiedMatching OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:ERCC1 semapv:UnspecifiedMatching OMIM:126380 ERCC1 skos:exactMatch ncbigene:2067 semapv:UnspecifiedMatching OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:LIG1 semapv:UnspecifiedMatching OMIM:126391 LIG1 skos:exactMatch ncbigene:3978 semapv:UnspecifiedMatching -OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:TOP1 semapv:UnspecifiedMatching OMIM:126420 TOP1 skos:exactMatch ncbigene:7150 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:TOP1 semapv:UnspecifiedMatching OMIM:126430 TOP2A skos:exactMatch ncbigene:7153 semapv:UnspecifiedMatching OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:TOP2A semapv:UnspecifiedMatching -OMIM:126431 TOP2B skos:exactMatch ncbigene:7155 semapv:UnspecifiedMatching OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:TOP2B semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch ncbigene:7155 semapv:UnspecifiedMatching OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:DRD1 semapv:UnspecifiedMatching OMIM:126449 DRD1 skos:exactMatch ncbigene:1812 semapv:UnspecifiedMatching OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:DRD2 semapv:UnspecifiedMatching @@ -1787,16 +1787,16 @@ OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:DRD3 semapv:UnspecifiedMatching OMIM:126451 DRD3 skos:exactMatch ncbigene:1814 semapv:UnspecifiedMatching OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:DRD4 semapv:UnspecifiedMatching OMIM:126452 DRD4 skos:exactMatch ncbigene:1815 semapv:UnspecifiedMatching -OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:DRD5 semapv:UnspecifiedMatching OMIM:126453 DRD5 skos:exactMatch ncbigene:1816 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:DRD5 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C1420213 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4747621 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:SLC6A3 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch ncbigene:6531 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1852020 semapv:UnspecifiedMatching OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching -OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch ncbigene:1811 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:SLC26A3 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching @@ -1808,15 +1808,15 @@ OMIM:126700 basal laminar drusen skos:exactMatch Orphanet:75376 semapv:Unspecifi OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching OMIM:128230 dystonia, dopa-responsive skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching OMIM:128230 dystonia, dopa-responsive skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch ncbigene:1605 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:DAG1 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C1413902 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C3151184 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C4225291 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:DAG1 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch ncbigene:1605 semapv:UnspecifiedMatching OMIM:128240 UTRN skos:exactMatch hgnc.symbol:UTRN semapv:UnspecifiedMatching OMIM:128240 UTRN skos:exactMatch ncbigene:7402 semapv:UnspecifiedMatching -OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:SNRPE semapv:UnspecifiedMatching OMIM:128260 SNRPE skos:exactMatch ncbigene:6635 semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:SNRPE semapv:UnspecifiedMatching OMIM:128990 EGR1 skos:exactMatch ncbigene:1958 semapv:UnspecifiedMatching OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:EGR1 semapv:UnspecifiedMatching OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:EGR4 semapv:UnspecifiedMatching @@ -1827,11 +1827,11 @@ OMIM:129190 NT5E skos:exactMatch hgnc.symbol:NT5E semapv:UnspecifiedMatching OMIM:129190 NT5E skos:exactMatch ncbigene:4907 semapv:UnspecifiedMatching OMIM:129200 basan syndrome skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching OMIM:129200 basan syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:3022 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:129400 rapp-hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:3022 semapv:UnspecifiedMatching OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C4551499 semapv:UnspecifiedMatching @@ -1839,29 +1839,29 @@ OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C02 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching OMIM:130120 CELA1 skos:exactMatch ncbigene:1990 semapv:UnspecifiedMatching OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:CELA1 semapv:UnspecifiedMatching -OMIM:130130 ELANE skos:exactMatch ncbigene:1991 semapv:UnspecifiedMatching OMIM:130130 ELANE skos:exactMatch hgnc.symbol:ELANE semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch ncbigene:1991 semapv:UnspecifiedMatching OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:SERPINB1 semapv:UnspecifiedMatching OMIM:130135 SERPINB1 skos:exactMatch ncbigene:1992 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C1414382 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch ncbigene:2006 semapv:UnspecifiedMatching -OMIM:130410 ETFB skos:exactMatch hgnc.symbol:ETFB semapv:UnspecifiedMatching OMIM:130410 ETFB skos:exactMatch ncbigene:2109 semapv:UnspecifiedMatching -OMIM:130500 EPB41 skos:exactMatch ncbigene:2035 semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch hgnc.symbol:ETFB semapv:UnspecifiedMatching OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:EPB41 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch ncbigene:2035 semapv:UnspecifiedMatching OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:EEF1A1 semapv:UnspecifiedMatching OMIM:130590 EEF1A1 skos:exactMatch ncbigene:1915 semapv:UnspecifiedMatching OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:EEF1D semapv:UnspecifiedMatching OMIM:130592 EEF1D skos:exactMatch ncbigene:1936 semapv:UnspecifiedMatching -OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:EEF1G semapv:UnspecifiedMatching OMIM:130593 EEF1G skos:exactMatch ncbigene:1937 semapv:UnspecifiedMatching -OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:EEF2 semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:EEF1G semapv:UnspecifiedMatching OMIM:130610 EEF2 skos:exactMatch ncbigene:1938 semapv:UnspecifiedMatching -OMIM:130620 RPS14 skos:exactMatch ncbigene:6208 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:EEF2 semapv:UnspecifiedMatching OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:RPS14 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch ncbigene:6208 semapv:UnspecifiedMatching OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C1851719 semapv:UnspecifiedMatching OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching @@ -1878,8 +1878,8 @@ OMIM:131195 ENG skos:exactMatch hgnc.symbol:ENG semapv:UnspecifiedMatching OMIM:131195 ENG skos:exactMatch ncbigene:2022 semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch hgnc.symbol:SELE semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch ncbigene:6401 semapv:UnspecifiedMatching -OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:FGF1 semapv:UnspecifiedMatching OMIM:131220 FGF1 skos:exactMatch ncbigene:2246 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:FGF1 semapv:UnspecifiedMatching OMIM:131222 TYMP skos:exactMatch ncbigene:1890 semapv:UnspecifiedMatching OMIM:131222 TYMP skos:exactMatch hgnc.symbol:TYMP semapv:UnspecifiedMatching OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:ANXA5 semapv:UnspecifiedMatching @@ -1911,29 +1911,29 @@ OMIM:131330 PENK skos:exactMatch hgnc.symbol:PENK semapv:UnspecifiedMatching OMIM:131330 PENK skos:exactMatch ncbigene:5179 semapv:UnspecifiedMatching OMIM:131340 PDYN skos:exactMatch hgnc.symbol:PDYN semapv:UnspecifiedMatching OMIM:131340 PDYN skos:exactMatch ncbigene:5173 semapv:UnspecifiedMatching -OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:ENO2 semapv:UnspecifiedMatching OMIM:131360 ENO2 skos:exactMatch ncbigene:2026 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:ENO2 semapv:UnspecifiedMatching OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:ENO3 semapv:UnspecifiedMatching OMIM:131370 ENO3 skos:exactMatch ncbigene:2027 semapv:UnspecifiedMatching OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:ENO4 semapv:UnspecifiedMatching OMIM:131375 ENO4 skos:exactMatch ncbigene:387712 semapv:UnspecifiedMatching OMIM:131390 NID1 skos:exactMatch hgnc.symbol:NID1 semapv:UnspecifiedMatching OMIM:131390 NID1 skos:exactMatch ncbigene:4811 semapv:UnspecifiedMatching -OMIM:131398 RNASE3 skos:exactMatch ncbigene:6037 semapv:UnspecifiedMatching OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:RNASE3 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch ncbigene:6037 semapv:UnspecifiedMatching OMIM:131399 EPX skos:exactMatch ncbigene:8288 semapv:UnspecifiedMatching OMIM:131399 EPX skos:exactMatch hgnc.symbol:EPX semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:RNASE2 semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch ncbigene:6036 semapv:UnspecifiedMatching OMIM:131530 EGF skos:exactMatch hgnc.symbol:EGF semapv:UnspecifiedMatching OMIM:131530 EGF skos:exactMatch ncbigene:1950 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch ncbigene:1956 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch hgnc.symbol:EGFR semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C4016032 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch ncbigene:1956 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C4016033 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C4016032 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C1851577 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C1414313 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:FLOT2 semapv:UnspecifiedMatching OMIM:131560 FLOT2 skos:exactMatch ncbigene:2319 semapv:UnspecifiedMatching OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch UMLS:C0432321 semapv:UnspecifiedMatching @@ -1942,35 +1942,35 @@ OMIM:132350 STX2 skos:exactMatch hgnc.symbol:STX2 semapv:UnspecifiedMatching OMIM:132350 STX2 skos:exactMatch ncbigene:2054 semapv:UnspecifiedMatching OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching -OMIM:132600 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching OMIM:132600 pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching +OMIM:132600 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:EPHX1 semapv:UnspecifiedMatching OMIM:132810 EPHX1 skos:exactMatch ncbigene:2052 semapv:UnspecifiedMatching OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:EPHX2 semapv:UnspecifiedMatching OMIM:132811 EPHX2 skos:exactMatch ncbigene:2053 semapv:UnspecifiedMatching OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:EBVS1 semapv:UnspecifiedMatching -OMIM:132880 NR2F6 skos:exactMatch ncbigene:2063 semapv:UnspecifiedMatching OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:NR2F6 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch ncbigene:2063 semapv:UnspecifiedMatching OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:NR2F1 semapv:UnspecifiedMatching OMIM:132890 NR2F1 skos:exactMatch ncbigene:7025 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching OMIM:133090 STOM skos:exactMatch hgnc.symbol:STOM semapv:UnspecifiedMatching OMIM:133090 STOM skos:exactMatch ncbigene:2040 semapv:UnspecifiedMatching OMIM:133170 EPO skos:exactMatch hgnc.symbol:EPO semapv:UnspecifiedMatching OMIM:133170 EPO skos:exactMatch ncbigene:2056 semapv:UnspecifiedMatching -OMIM:133171 EPOR skos:exactMatch ncbigene:2057 semapv:UnspecifiedMatching OMIM:133171 EPOR skos:exactMatch hgnc.symbol:EPOR semapv:UnspecifiedMatching -OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:ESA4 semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch ncbigene:2057 semapv:UnspecifiedMatching OMIM:133220 ESA4 skos:exactMatch ncbigene:2090 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:ESA4 semapv:UnspecifiedMatching OMIM:133280 ESD skos:exactMatch hgnc.symbol:ESD semapv:UnspecifiedMatching OMIM:133280 ESD skos:exactMatch ncbigene:2098 semapv:UnspecifiedMatching OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:ESB3 semapv:UnspecifiedMatching OMIM:133290 ESB3 skos:exactMatch ncbigene:2097 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch ncbigene:2099 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:ESR1 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch ncbigene:2099 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C4016038 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C4016037 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C3809250 semapv:UnspecifiedMatching @@ -1984,8 +1984,8 @@ OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:EWSR1 semapv:UnspecifiedMatching OMIM:133450 EWSR1 skos:exactMatch ncbigene:2130 semapv:UnspecifiedMatching OMIM:133510 ERCC3 skos:exactMatch ncbigene:2071 semapv:UnspecifiedMatching OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:ERCC3 semapv:UnspecifiedMatching -OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:ERCC4 semapv:UnspecifiedMatching OMIM:133520 ERCC4 skos:exactMatch ncbigene:2072 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:ERCC4 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C1333359 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C1851443 semapv:UnspecifiedMatching @@ -1993,10 +1993,10 @@ OMIM:133530 ERCC5 skos:exactMatch UMLS:C4016040 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:ERCC5 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch ncbigene:2073 semapv:UnspecifiedMatching OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching OMIM:133540 Cockayne syndrome B skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:SLC1A1 semapv:UnspecifiedMatching OMIM:133550 SLC1A1 skos:exactMatch ncbigene:6505 semapv:UnspecifiedMatching OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching @@ -2016,15 +2016,15 @@ OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:F13A1 semapv:UnspecifiedMatching OMIM:134570 F13A1 skos:exactMatch ncbigene:2162 semapv:UnspecifiedMatching OMIM:134580 F13B skos:exactMatch hgnc.symbol:F13B semapv:UnspecifiedMatching OMIM:134580 F13B skos:exactMatch ncbigene:2165 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching OMIM:134629 FDPS skos:exactMatch hgnc.symbol:FDPS semapv:UnspecifiedMatching OMIM:134629 FDPS skos:exactMatch ncbigene:2224 semapv:UnspecifiedMatching -OMIM:134635 FNTA skos:exactMatch ncbigene:2339 semapv:UnspecifiedMatching OMIM:134635 FNTA skos:exactMatch hgnc.symbol:FNTA semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch ncbigene:2339 semapv:UnspecifiedMatching OMIM:134636 FNTB skos:exactMatch ncbigene:2342 semapv:UnspecifiedMatching OMIM:134636 FNTB skos:exactMatch hgnc.symbol:FNTB semapv:UnspecifiedMatching OMIM:134637 FAS skos:exactMatch hgnc.symbol:FAS semapv:UnspecifiedMatching @@ -2035,19 +2035,19 @@ OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:FABP2 semapv:UnspecifiedMatching OMIM:134640 FABP2 skos:exactMatch ncbigene:2169 semapv:UnspecifiedMatching OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:FABP1 semapv:UnspecifiedMatching OMIM:134650 FABP1 skos:exactMatch ncbigene:2168 semapv:UnspecifiedMatching -OMIM:134651 FABP3 skos:exactMatch ncbigene:2170 semapv:UnspecifiedMatching OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:FABP3 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch ncbigene:2170 semapv:UnspecifiedMatching OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:GSTP1 semapv:UnspecifiedMatching OMIM:134660 GSTP1 skos:exactMatch ncbigene:2950 semapv:UnspecifiedMatching OMIM:134690 FAU skos:exactMatch hgnc.symbol:FAU semapv:UnspecifiedMatching OMIM:134690 FAU skos:exactMatch ncbigene:2197 semapv:UnspecifiedMatching -OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching OMIM:134770 FTH1 skos:exactMatch ncbigene:2495 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching OMIM:134790 FTL skos:exactMatch hgnc.symbol:FTL semapv:UnspecifiedMatching OMIM:134790 FTL skos:exactMatch ncbigene:2512 semapv:UnspecifiedMatching -OMIM:134795 FBL skos:exactMatch ncbigene:2091 semapv:UnspecifiedMatching OMIM:134795 FBL skos:exactMatch hgnc.symbol:FBL semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch ncbigene:2200 semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch ncbigene:2091 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:FBN1 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4310796 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016060 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016059 semapv:UnspecifiedMatching @@ -2056,7 +2056,7 @@ OMIM:134797 FBN1 skos:exactMatch UMLS:C4016056 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016055 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016054 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016053 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:FBN1 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C3541518 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C3280054 semapv:UnspecifiedMatching @@ -2065,20 +2065,20 @@ OMIM:134797 FBN1 skos:exactMatch UMLS:C1861456 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C1858556 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C1414542 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C0265287 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch ncbigene:2200 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016052 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching -OMIM:134820 FGA skos:exactMatch hgnc.symbol:FGA semapv:UnspecifiedMatching OMIM:134820 FGA skos:exactMatch ncbigene:2243 semapv:UnspecifiedMatching -OMIM:134830 FGB skos:exactMatch ncbigene:2244 semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch hgnc.symbol:FGA semapv:UnspecifiedMatching OMIM:134830 FGB skos:exactMatch hgnc.symbol:FGB semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch ncbigene:2244 semapv:UnspecifiedMatching OMIM:134850 FGG skos:exactMatch hgnc.symbol:FGG semapv:UnspecifiedMatching OMIM:134850 FGG skos:exactMatch ncbigene:2266 semapv:UnspecifiedMatching OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:FGF2 semapv:UnspecifiedMatching OMIM:134920 FGF2 skos:exactMatch ncbigene:2247 semapv:UnspecifiedMatching OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:FGF6 semapv:UnspecifiedMatching OMIM:134921 FGF6 skos:exactMatch ncbigene:2251 semapv:UnspecifiedMatching -OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:FGFR3 semapv:UnspecifiedMatching OMIM:134934 FGFR3 skos:exactMatch ncbigene:2261 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:FGFR3 semapv:UnspecifiedMatching OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:FGFR4 semapv:UnspecifiedMatching OMIM:134935 FGFR4 skos:exactMatch ncbigene:2264 semapv:UnspecifiedMatching OMIM:135290 desmoid disease, hereditary skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching @@ -2095,11 +2095,11 @@ OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:FBLN1 semapv:UnspecifiedMatching OMIM:135820 FBLN1 skos:exactMatch ncbigene:2192 semapv:UnspecifiedMatching OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:FBLN2 semapv:UnspecifiedMatching OMIM:135821 FBLN2 skos:exactMatch ncbigene:2199 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching OMIM:135900 coffin-siris syndrome 1 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:135940 FLG skos:exactMatch ncbigene:2312 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching OMIM:135940 FLG skos:exactMatch hgnc.symbol:FLG semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch ncbigene:2312 semapv:UnspecifiedMatching OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:FMO1 semapv:UnspecifiedMatching OMIM:136130 FMO1 skos:exactMatch ncbigene:2326 semapv:UnspecifiedMatching OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:FMO4 semapv:UnspecifiedMatching @@ -2116,21 +2116,21 @@ OMIM:136352 FLT4 skos:exactMatch UMLS:C4016109 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:FLT4 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch ncbigene:2324 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch UMLS:C1414664 semapv:UnspecifiedMatching OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:FOLR2 semapv:UnspecifiedMatching OMIM:136425 FOLR2 skos:exactMatch ncbigene:2350 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch ncbigene:2348 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:FOLR1 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch UMLS:C1414664 semapv:UnspecifiedMatching OMIM:136430 FOLR1 skos:exactMatch UMLS:C1414662 semapv:UnspecifiedMatching OMIM:136430 FOLR1 skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:FOLR1 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch ncbigene:2348 semapv:UnspecifiedMatching OMIM:136435 FSHR skos:exactMatch hgnc.symbol:FSHR semapv:UnspecifiedMatching OMIM:136435 FSHR skos:exactMatch ncbigene:2492 semapv:UnspecifiedMatching -OMIM:136440 KDSR skos:exactMatch hgnc.symbol:KDSR semapv:UnspecifiedMatching OMIM:136440 KDSR skos:exactMatch ncbigene:2531 semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch hgnc.symbol:KDSR semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch ncbigene:10468 semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch hgnc.symbol:FST semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch UMLS:C1414830 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:136510 FPGS skos:exactMatch hgnc.symbol:FPGS semapv:UnspecifiedMatching OMIM:136510 FPGS skos:exactMatch ncbigene:2356 semapv:UnspecifiedMatching OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:FOSL1 semapv:UnspecifiedMatching @@ -2147,8 +2147,8 @@ OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:FPR1 semapv:UnspecifiedMatching OMIM:136537 FPR1 skos:exactMatch ncbigene:2357 semapv:UnspecifiedMatching OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:FPR2 semapv:UnspecifiedMatching OMIM:136538 FPR2 skos:exactMatch ncbigene:2358 semapv:UnspecifiedMatching -OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:FPR3 semapv:UnspecifiedMatching OMIM:136539 FPR3 skos:exactMatch ncbigene:2359 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:FPR3 semapv:UnspecifiedMatching OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching OMIM:136760 frontonasal dysplasia 1 skos:exactMatch UMLS:C1876203 semapv:UnspecifiedMatching @@ -2169,10 +2169,10 @@ OMIM:136950 FURIN skos:exactMatch ncbigene:5045 semapv:UnspecifiedMatching OMIM:137010 FEA skos:exactMatch ncbigene:7959 semapv:UnspecifiedMatching OMIM:137020 GFUS skos:exactMatch hgnc.symbol:GFUS semapv:UnspecifiedMatching OMIM:137020 GFUS skos:exactMatch ncbigene:7264 semapv:UnspecifiedMatching -OMIM:137025 FYN skos:exactMatch hgnc.symbol:FYN semapv:UnspecifiedMatching OMIM:137025 FYN skos:exactMatch ncbigene:2534 semapv:UnspecifiedMatching -OMIM:137026 GRK4 skos:exactMatch ncbigene:2868 semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch hgnc.symbol:FYN semapv:UnspecifiedMatching OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:GRK4 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch ncbigene:2868 semapv:UnspecifiedMatching OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:GALK2 semapv:UnspecifiedMatching OMIM:137028 GALK2 skos:exactMatch ncbigene:2585 semapv:UnspecifiedMatching OMIM:137030 GALM skos:exactMatch UMLS:C1428343 semapv:UnspecifiedMatching @@ -2181,20 +2181,20 @@ OMIM:137030 GALM skos:exactMatch hgnc.symbol:GALM semapv:UnspecifiedMatching OMIM:137030 GALM skos:exactMatch ncbigene:130589 semapv:UnspecifiedMatching OMIM:137035 GAL skos:exactMatch hgnc.symbol:GAL semapv:UnspecifiedMatching OMIM:137035 GAL skos:exactMatch ncbigene:51083 semapv:UnspecifiedMatching -OMIM:137060 B4GALT1 skos:exactMatch ncbigene:2683 semapv:UnspecifiedMatching OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:B4GALT1 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C1414860 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C1842675 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C2750729 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch ncbigene:2683 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C4016110 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch hgnc.symbol:FUS semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C1842675 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C1414860 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C2750729 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch ncbigene:2521 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch ncbigene:2555 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:GABRA2 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C1414909 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching OMIM:137141 GABRA4 skos:exactMatch UMLS:C1414911 semapv:UnspecifiedMatching OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:GABRA4 semapv:UnspecifiedMatching OMIM:137141 GABRA4 skos:exactMatch ncbigene:2557 semapv:UnspecifiedMatching @@ -2202,38 +2202,38 @@ OMIM:137142 GABRA5 skos:exactMatch UMLS:C1414912 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:GABRA5 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch ncbigene:2558 semapv:UnspecifiedMatching -OMIM:137143 GABRA6 skos:exactMatch ncbigene:2559 semapv:UnspecifiedMatching OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:GABRA6 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch ncbigene:2559 semapv:UnspecifiedMatching OMIM:137150 ABAT skos:exactMatch hgnc.symbol:ABAT semapv:UnspecifiedMatching OMIM:137150 ABAT skos:exactMatch ncbigene:18 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:GABRA1 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch ncbigene:2554 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C1414908 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C1970160 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C1414908 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C2749942 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:GABRA1 semapv:UnspecifiedMatching -OMIM:137161 GABRR1 skos:exactMatch ncbigene:2569 semapv:UnspecifiedMatching OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:GABRR1 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch ncbigene:2569 semapv:UnspecifiedMatching OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:GABRR2 semapv:UnspecifiedMatching OMIM:137162 GABRR2 skos:exactMatch ncbigene:2570 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C1414917 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch ncbigene:2563 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch hgnc.symbol:GABRD semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C3150399 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C2751603 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C1414917 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C2751604 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C3150399 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch hgnc.symbol:GABRD semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch ncbigene:2563 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch ncbigene:2566 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:GABRG2 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C1414920 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C1858674 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C1414920 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:GABRG2 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:SLC6A1 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch ncbigene:6529 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch UMLS:C1420206 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch UMLS:C4085238 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:SLC6A1 semapv:UnspecifiedMatching OMIM:137166 GABRG1 skos:exactMatch ncbigene:2565 semapv:UnspecifiedMatching OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:GABRG1 semapv:UnspecifiedMatching OMIM:137167 GGCX skos:exactMatch hgnc.symbol:GGCX semapv:UnspecifiedMatching @@ -2244,16 +2244,16 @@ OMIM:137170 GGCT skos:exactMatch hgnc.symbol:GGCT semapv:UnspecifiedMatching OMIM:137170 GGCT skos:exactMatch ncbigene:79017 semapv:UnspecifiedMatching OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:GGT2P semapv:UnspecifiedMatching OMIM:137181 GGT2 skos:exactMatch ncbigene:728441 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch ncbigene:2560 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:GABRB1 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching OMIM:137190 GABRB1 skos:exactMatch UMLS:C1414914 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C1414916 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:GABRB1 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch ncbigene:2560 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch ncbigene:2562 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:GABRB3 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch ncbigene:2562 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C1414916 semapv:UnspecifiedMatching OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch UMLS:C0242287 semapv:UnspecifiedMatching OMIM:137207 LRRC32 skos:exactMatch UMLS:C1537607 semapv:UnspecifiedMatching @@ -2262,8 +2262,8 @@ OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:LRRC32 semapv:UnspecifiedMatching OMIM:137207 LRRC32 skos:exactMatch ncbigene:2615 semapv:UnspecifiedMatching OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:ATP4A semapv:UnspecifiedMatching OMIM:137216 ATP4A skos:exactMatch ncbigene:495 semapv:UnspecifiedMatching -OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:ATP4B semapv:UnspecifiedMatching OMIM:137217 ATP4B skos:exactMatch ncbigene:496 semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:ATP4B semapv:UnspecifiedMatching OMIM:137240 GIP skos:exactMatch ncbigene:2695 semapv:UnspecifiedMatching OMIM:137240 GIP skos:exactMatch hgnc.symbol:GIP semapv:UnspecifiedMatching OMIM:137241 GIPR skos:exactMatch UMLS:C1333675 semapv:UnspecifiedMatching @@ -2273,112 +2273,112 @@ OMIM:137250 GAST skos:exactMatch hgnc.symbol:GAST semapv:UnspecifiedMatching OMIM:137250 GAST skos:exactMatch ncbigene:2520 semapv:UnspecifiedMatching OMIM:137260 GRP skos:exactMatch hgnc.symbol:GRP semapv:UnspecifiedMatching OMIM:137260 GRP skos:exactMatch ncbigene:2922 semapv:UnspecifiedMatching -OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C2936660 semapv:UnspecifiedMatching OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C2936660 semapv:UnspecifiedMatching OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:TACSTD2 semapv:UnspecifiedMatching OMIM:137290 TACSTD2 skos:exactMatch ncbigene:4070 semapv:UnspecifiedMatching OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:GATA2 semapv:UnspecifiedMatching OMIM:137295 GATA2 skos:exactMatch ncbigene:2624 semapv:UnspecifiedMatching OMIM:137350 GSN skos:exactMatch hgnc.symbol:GSN semapv:UnspecifiedMatching OMIM:137350 GSN skos:exactMatch ncbigene:2934 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C2931022 semapv:UnspecifiedMatching OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching -OMIM:137440 gerstmann-straussler disease skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:SLC20A1 semapv:UnspecifiedMatching OMIM:137570 SLC20A1 skos:exactMatch ncbigene:6574 semapv:UnspecifiedMatching OMIM:137570 SLC20A1 skos:exactMatch UMLS:C1456395 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:SLC20A1 semapv:UnspecifiedMatching OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C1842026 semapv:UnspecifiedMatching -OMIM:137780 GFAP skos:exactMatch ncbigene:2670 semapv:UnspecifiedMatching OMIM:137780 GFAP skos:exactMatch hgnc.symbol:GFAP semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch ncbigene:2670 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1842010 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1621958 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1842010 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1621958 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C1841989 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching -OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:MPV17 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching OMIM:138030 GCG skos:exactMatch UMLS:C1333664 semapv:UnspecifiedMatching OMIM:138030 GCG skos:exactMatch hgnc.symbol:GCG semapv:UnspecifiedMatching OMIM:138030 GCG skos:exactMatch ncbigene:2641 semapv:UnspecifiedMatching OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:GLP1R semapv:UnspecifiedMatching OMIM:138032 GLP1R skos:exactMatch ncbigene:2740 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch ncbigene:2642 semapv:UnspecifiedMatching OMIM:138033 GCGR skos:exactMatch hgnc.symbol:GCGR semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch UMLS:C1415011 semapv:UnspecifiedMatching OMIM:138033 GCGR skos:exactMatch UMLS:C5394558 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch ncbigene:2642 semapv:UnspecifiedMatching -OMIM:138040 NR3C1 skos:exactMatch ncbigene:2908 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch UMLS:C1415011 semapv:UnspecifiedMatching OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:NR3C1 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch ncbigene:2908 semapv:UnspecifiedMatching OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:NR3C1P1 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch ncbigene:2645 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C1415014 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch hgnc.symbol:GCK semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C1865290 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch hgnc.symbol:GCK semapv:UnspecifiedMatching -OMIM:138090 H6PD skos:exactMatch ncbigene:9563 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C1415014 semapv:UnspecifiedMatching OMIM:138090 H6PD skos:exactMatch hgnc.symbol:H6PD semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch ncbigene:9563 semapv:UnspecifiedMatching OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:HSPA5 semapv:UnspecifiedMatching OMIM:138120 HSPA5 skos:exactMatch ncbigene:3309 semapv:UnspecifiedMatching OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:GLUD1 semapv:UnspecifiedMatching OMIM:138130 GLUD1 skos:exactMatch ncbigene:2746 semapv:UnspecifiedMatching OMIM:138140 SLC2A1 skos:exactMatch ncbigene:6513 semapv:UnspecifiedMatching OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:SLC2A1 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch UMLS:C1415182 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:GOT2 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch UMLS:C1415182 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch ncbigene:2806 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch ncbigene:6514 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:SLC2A2 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C1420172 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3495427 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:SLC2A2 semapv:UnspecifiedMatching OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:SLC2A3 semapv:UnspecifiedMatching OMIM:138170 SLC2A3 skos:exactMatch ncbigene:6515 semapv:UnspecifiedMatching OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:GOT1 semapv:UnspecifiedMatching OMIM:138180 GOT1 skos:exactMatch ncbigene:2805 semapv:UnspecifiedMatching OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:SLC2A4 semapv:UnspecifiedMatching OMIM:138190 SLC2A4 skos:exactMatch ncbigene:6517 semapv:UnspecifiedMatching -OMIM:138200 GPT skos:exactMatch hgnc.symbol:GPT semapv:UnspecifiedMatching OMIM:138200 GPT skos:exactMatch ncbigene:2875 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch ncbigene:84706 semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch hgnc.symbol:GPT semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:GPT2 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch ncbigene:84706 semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch UMLS:C1512213 semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching -OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:SLC2A5 semapv:UnspecifiedMatching OMIM:138230 SLC2A5 skos:exactMatch ncbigene:6518 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:SLC2A5 semapv:UnspecifiedMatching OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:GRIK3 semapv:UnspecifiedMatching OMIM:138243 GRIK3 skos:exactMatch ncbigene:2899 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch ncbigene:2898 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:GRIK2 semapv:UnspecifiedMatching OMIM:138244 GRIK2 skos:exactMatch UMLS:C1415294 semapv:UnspecifiedMatching OMIM:138244 GRIK2 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:GRIK2 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch ncbigene:2898 semapv:UnspecifiedMatching OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:GRIK1 semapv:UnspecifiedMatching OMIM:138245 GRIK1 skos:exactMatch ncbigene:2897 semapv:UnspecifiedMatching OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:GRIA4 semapv:UnspecifiedMatching OMIM:138246 GRIA4 skos:exactMatch ncbigene:2893 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch ncbigene:2891 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:GRIA2 semapv:UnspecifiedMatching OMIM:138247 GRIA2 skos:exactMatch UMLS:C1415288 semapv:UnspecifiedMatching OMIM:138247 GRIA2 skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:GRIA2 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch ncbigene:2891 semapv:UnspecifiedMatching OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:GRIA1 semapv:UnspecifiedMatching OMIM:138248 GRIA1 skos:exactMatch ncbigene:2890 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693964 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch ncbigene:2902 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:GRIN1 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693965 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693963 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch ncbigene:2902 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693961 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693960 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693961 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693959 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C1415298 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693962 semapv:UnspecifiedMatching @@ -2386,65 +2386,65 @@ OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:ALDH18A1 semapv:UnspecifiedMatc OMIM:138250 ALDH18A1 skos:exactMatch ncbigene:5832 semapv:UnspecifiedMatching OMIM:138251 GRINA skos:exactMatch hgnc.symbol:GRINA semapv:UnspecifiedMatching OMIM:138251 GRINA skos:exactMatch ncbigene:2907 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch ncbigene:2904 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:GRIN2B semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch UMLS:C4540533 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C1415300 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch UMLS:C4540533 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:GRIN2B semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch ncbigene:2904 semapv:UnspecifiedMatching OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:GRIN2A semapv:UnspecifiedMatching OMIM:138253 GRIN2A skos:exactMatch ncbigene:2903 semapv:UnspecifiedMatching OMIM:138254 GRIN2C skos:exactMatch ncbigene:2905 semapv:UnspecifiedMatching OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:GRIN2C semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch UMLS:C1414926 semapv:UnspecifiedMatching OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:GAD2 semapv:UnspecifiedMatching OMIM:138275 GAD2 skos:exactMatch ncbigene:2572 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch UMLS:C1414926 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C1415112 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch hgnc.symbol:GLS semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch ncbigene:2744 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C1415112 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching OMIM:138290 GLUL skos:exactMatch hgnc.symbol:GLUL semapv:UnspecifiedMatching OMIM:138290 GLUL skos:exactMatch ncbigene:2752 semapv:UnspecifiedMatching -OMIM:138292 GFPT1 skos:exactMatch ncbigene:2673 semapv:UnspecifiedMatching OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:GFPT1 semapv:UnspecifiedMatching -OMIM:138295 EPRS1 skos:exactMatch ncbigene:2058 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch ncbigene:2673 semapv:UnspecifiedMatching OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:EPRS1 semapv:UnspecifiedMatching -OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:ENPEP semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch ncbigene:2058 semapv:UnspecifiedMatching OMIM:138297 ENPEP skos:exactMatch ncbigene:2028 semapv:UnspecifiedMatching -OMIM:138300 GSR skos:exactMatch hgnc.symbol:GSR semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:ENPEP semapv:UnspecifiedMatching OMIM:138300 GSR skos:exactMatch ncbigene:2936 semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch hgnc.symbol:GSR semapv:UnspecifiedMatching OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:GPX2 semapv:UnspecifiedMatching OMIM:138319 GPX2 skos:exactMatch ncbigene:2877 semapv:UnspecifiedMatching OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:GPX1 semapv:UnspecifiedMatching OMIM:138320 GPX1 skos:exactMatch ncbigene:2876 semapv:UnspecifiedMatching OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:GPX3 semapv:UnspecifiedMatching OMIM:138321 GPX3 skos:exactMatch ncbigene:2878 semapv:UnspecifiedMatching -OMIM:138322 GPX4 skos:exactMatch ncbigene:2879 semapv:UnspecifiedMatching OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:GPX4 semapv:UnspecifiedMatching -OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:MGST1 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch ncbigene:2879 semapv:UnspecifiedMatching OMIM:138330 MGST1 skos:exactMatch ncbigene:4257 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:MGST1 semapv:UnspecifiedMatching OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:GSTM4 semapv:UnspecifiedMatching OMIM:138333 GSTM4 skos:exactMatch ncbigene:2948 semapv:UnspecifiedMatching OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:GSTM1 semapv:UnspecifiedMatching OMIM:138350 GSTM1 skos:exactMatch ncbigene:2944 semapv:UnspecifiedMatching OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:GSTA1 semapv:UnspecifiedMatching OMIM:138359 GSTA1 skos:exactMatch ncbigene:2938 semapv:UnspecifiedMatching -OMIM:138360 GSTA2 skos:exactMatch ncbigene:2939 semapv:UnspecifiedMatching OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:GSTA2 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch ncbigene:2939 semapv:UnspecifiedMatching OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:GSTM2 semapv:UnspecifiedMatching OMIM:138380 GSTM2 skos:exactMatch ncbigene:2946 semapv:UnspecifiedMatching -OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:GSTM5 semapv:UnspecifiedMatching OMIM:138385 GSTM5 skos:exactMatch ncbigene:2949 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:GSTM5 semapv:UnspecifiedMatching OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:GSTM3 semapv:UnspecifiedMatching OMIM:138390 GSTM3 skos:exactMatch ncbigene:2947 semapv:UnspecifiedMatching OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:GAPDH semapv:UnspecifiedMatching OMIM:138400 GAPDH skos:exactMatch ncbigene:2597 semapv:UnspecifiedMatching -OMIM:138420 GPD1 skos:exactMatch ncbigene:2819 semapv:UnspecifiedMatching OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:GPD1 semapv:UnspecifiedMatching -OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:GPD2 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch ncbigene:2819 semapv:UnspecifiedMatching OMIM:138430 GPD2 skos:exactMatch ncbigene:2820 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:GPD2 semapv:UnspecifiedMatching OMIM:138440 GART skos:exactMatch hgnc.symbol:GART semapv:UnspecifiedMatching OMIM:138440 GART skos:exactMatch ncbigene:2618 semapv:UnspecifiedMatching OMIM:138450 SHMT2 skos:exactMatch UMLS:C1420040 semapv:UnspecifiedMatching @@ -2453,99 +2453,99 @@ OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:SHMT2 semapv:UnspecifiedMatching OMIM:138450 SHMT2 skos:exactMatch ncbigene:6472 semapv:UnspecifiedMatching OMIM:138470 CFB skos:exactMatch ncbigene:629 semapv:UnspecifiedMatching OMIM:138470 CFB skos:exactMatch hgnc.symbol:CFB semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch ncbigene:81034 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:SLC25A32 semapv:UnspecifiedMatching OMIM:138480 SLC25A32 skos:exactMatch UMLS:C1822742 semapv:UnspecifiedMatching OMIM:138480 SLC25A32 skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:SLC25A32 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch ncbigene:81034 semapv:UnspecifiedMatching OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:GLRA1 semapv:UnspecifiedMatching OMIM:138491 GLRA1 skos:exactMatch ncbigene:2741 semapv:UnspecifiedMatching OMIM:138492 GLRB skos:exactMatch hgnc.symbol:GLRB semapv:UnspecifiedMatching OMIM:138492 GLRB skos:exactMatch ncbigene:2743 semapv:UnspecifiedMatching -OMIM:138550 PYGB skos:exactMatch ncbigene:5834 semapv:UnspecifiedMatching OMIM:138550 PYGB skos:exactMatch hgnc.symbol:PYGB semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch ncbigene:5834 semapv:UnspecifiedMatching OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:GYS1 semapv:UnspecifiedMatching OMIM:138570 GYS1 skos:exactMatch ncbigene:2997 semapv:UnspecifiedMatching -OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:GYS2 semapv:UnspecifiedMatching OMIM:138571 GYS2 skos:exactMatch ncbigene:2998 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:GYS2 semapv:UnspecifiedMatching OMIM:138590 GYPE skos:exactMatch hgnc.symbol:GYPE semapv:UnspecifiedMatching OMIM:138590 GYPE skos:exactMatch ncbigene:2996 semapv:UnspecifiedMatching OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:ORM1 semapv:UnspecifiedMatching OMIM:138600 ORM1 skos:exactMatch ncbigene:5004 semapv:UnspecifiedMatching -OMIM:138610 ORM2 skos:exactMatch ncbigene:5005 semapv:UnspecifiedMatching OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:ORM2 semapv:UnspecifiedMatching -OMIM:138670 A1BG skos:exactMatch hgnc.symbol:A1BG semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch ncbigene:5005 semapv:UnspecifiedMatching OMIM:138670 A1BG skos:exactMatch ncbigene:1 semapv:UnspecifiedMatching -OMIM:138680 AHSG skos:exactMatch hgnc.symbol:AHSG semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch hgnc.symbol:A1BG semapv:UnspecifiedMatching OMIM:138680 AHSG skos:exactMatch ncbigene:197 semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch hgnc.symbol:AHSG semapv:UnspecifiedMatching OMIM:138700 APOH skos:exactMatch hgnc.symbol:APOH semapv:UnspecifiedMatching OMIM:138700 APOH skos:exactMatch ncbigene:350 semapv:UnspecifiedMatching OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:GP1BB semapv:UnspecifiedMatching OMIM:138720 GP1BB skos:exactMatch ncbigene:2812 semapv:UnspecifiedMatching -OMIM:138750 GLO1 skos:exactMatch ncbigene:2739 semapv:UnspecifiedMatching OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:GLO1 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch ncbigene:2739 semapv:UnspecifiedMatching OMIM:138760 HAGH skos:exactMatch hgnc.symbol:HAGH semapv:UnspecifiedMatching OMIM:138760 HAGH skos:exactMatch ncbigene:3029 semapv:UnspecifiedMatching -OMIM:138770 gms syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching OMIM:138770 gms syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching +OMIM:138770 gms syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:GNRHR semapv:UnspecifiedMatching OMIM:138850 GNRHR skos:exactMatch ncbigene:2798 semapv:UnspecifiedMatching OMIM:138890 GSC skos:exactMatch hgnc.symbol:GSC semapv:UnspecifiedMatching OMIM:138890 GSC skos:exactMatch ncbigene:145258 semapv:UnspecifiedMatching OMIM:138900 uric acid concentration, serum, quantitative trait locus 1 skos:exactMatch UMLS:C1841837 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C1415311 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C4016134 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch hgnc.symbol:GRN semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch ncbigene:2896 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch hgnc.symbol:GRN semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C4016134 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C1415311 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:CSF2 semapv:UnspecifiedMatching OMIM:138960 CSF2 skos:exactMatch ncbigene:1437 semapv:UnspecifiedMatching -OMIM:138965 CXCL6 skos:exactMatch ncbigene:6372 semapv:UnspecifiedMatching OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:CXCL6 semapv:UnspecifiedMatching -OMIM:138970 CSF3 skos:exactMatch ncbigene:1440 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch ncbigene:6372 semapv:UnspecifiedMatching OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:CSF3 semapv:UnspecifiedMatching -OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:CSF3R semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch ncbigene:1440 semapv:UnspecifiedMatching OMIM:138971 CSF3R skos:exactMatch ncbigene:1441 semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:CSF3R semapv:UnspecifiedMatching OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:CEBPG semapv:UnspecifiedMatching OMIM:138972 CEBPG skos:exactMatch ncbigene:1054 semapv:UnspecifiedMatching OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:CSF2RB semapv:UnspecifiedMatching OMIM:138981 CSF2RB skos:exactMatch ncbigene:1439 semapv:UnspecifiedMatching OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:SLC25A16 semapv:UnspecifiedMatching OMIM:139080 SLC25A16 skos:exactMatch ncbigene:8034 semapv:UnspecifiedMatching -OMIM:139110 CXCL2 skos:exactMatch ncbigene:2920 semapv:UnspecifiedMatching OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:CXCL2 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch ncbigene:2920 semapv:UnspecifiedMatching OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:CXCL3 semapv:UnspecifiedMatching OMIM:139111 CXCL3 skos:exactMatch ncbigene:2921 semapv:UnspecifiedMatching -OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:GNB3 semapv:UnspecifiedMatching OMIM:139130 GNB3 skos:exactMatch ncbigene:2784 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:GNB3 semapv:UnspecifiedMatching OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:NR4A1 semapv:UnspecifiedMatching OMIM:139139 NR4A1 skos:exactMatch ncbigene:3164 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:RASA1 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch ncbigene:5921 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch UMLS:C1419277 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching -OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:GNAZ semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:RASA1 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch ncbigene:5921 semapv:UnspecifiedMatching OMIM:139160 GNAZ skos:exactMatch ncbigene:2781 semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:GNAZ semapv:UnspecifiedMatching OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:GNAI2P1 semapv:UnspecifiedMatching OMIM:139180 GNAI2P1 skos:exactMatch ncbigene:2772 semapv:UnspecifiedMatching OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:GAS1 semapv:UnspecifiedMatching OMIM:139185 GAS1 skos:exactMatch ncbigene:2619 semapv:UnspecifiedMatching OMIM:139190 GHRH skos:exactMatch hgnc.symbol:GHRH semapv:UnspecifiedMatching OMIM:139190 GHRH skos:exactMatch ncbigene:2691 semapv:UnspecifiedMatching -OMIM:139191 GHRHR skos:exactMatch ncbigene:2692 semapv:UnspecifiedMatching OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:GHRHR semapv:UnspecifiedMatching -OMIM:139200 GC skos:exactMatch hgnc.symbol:GC semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch ncbigene:2692 semapv:UnspecifiedMatching OMIM:139200 GC skos:exactMatch ncbigene:2638 semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch hgnc.symbol:GC semapv:UnspecifiedMatching OMIM:139210 myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching OMIM:139210 myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching OMIM:139240 GH2 skos:exactMatch hgnc.symbol:GH2 semapv:UnspecifiedMatching OMIM:139240 GH2 skos:exactMatch ncbigene:2689 semapv:UnspecifiedMatching OMIM:139250 GH1 skos:exactMatch hgnc.symbol:GH1 semapv:UnspecifiedMatching OMIM:139250 GH1 skos:exactMatch ncbigene:2688 semapv:UnspecifiedMatching -OMIM:139255 MT3 skos:exactMatch ncbigene:4504 semapv:UnspecifiedMatching OMIM:139255 MT3 skos:exactMatch hgnc.symbol:MT3 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch ncbigene:4504 semapv:UnspecifiedMatching OMIM:139259 GSPT1 skos:exactMatch ncbigene:2935 semapv:UnspecifiedMatching OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:GSPT1 semapv:UnspecifiedMatching OMIM:139260 GDA skos:exactMatch hgnc.symbol:GDA semapv:UnspecifiedMatching @@ -2568,9 +2568,9 @@ OMIM:139312 GNAL skos:exactMatch hgnc.symbol:GNAL semapv:UnspecifiedMatching OMIM:139312 GNAL skos:exactMatch ncbigene:2774 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch ncbigene:2767 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:GNA11 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch UMLS:C1415138 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:GNA15 semapv:UnspecifiedMatching OMIM:139314 GNA15 skos:exactMatch ncbigene:2769 semapv:UnspecifiedMatching OMIM:139320 GNAS skos:exactMatch hgnc.symbol:GNAS semapv:UnspecifiedMatching @@ -2585,11 +2585,11 @@ OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:GNAI2 semapv:UnspecifiedMatching OMIM:139360 GNAI2 skos:exactMatch ncbigene:2771 semapv:UnspecifiedMatching OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:GNAI3 semapv:UnspecifiedMatching OMIM:139370 GNAI3 skos:exactMatch ncbigene:2773 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:GNB1 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch ncbigene:2782 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:GNB1 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4310990 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4016619 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C1333687 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4310774 semapv:UnspecifiedMatching OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:GNB2 semapv:UnspecifiedMatching @@ -2598,8 +2598,8 @@ OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:GNGT2 semapv:UnspecifiedMatching OMIM:139391 GNGT2 skos:exactMatch ncbigene:2793 semapv:UnspecifiedMatching OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:GUCA2A semapv:UnspecifiedMatching OMIM:139392 GUCA2A skos:exactMatch ncbigene:2980 semapv:UnspecifiedMatching -OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching OMIM:139395 GNAT3 skos:exactMatch ncbigene:346562 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching OMIM:139396 GUCY1A3 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching @@ -2609,57 +2609,57 @@ OMIM:139605 HES1 skos:exactMatch hgnc.symbol:HES1 semapv:UnspecifiedMatching OMIM:139605 HES1 skos:exactMatch ncbigene:3280 semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch hgnc.symbol:GZMA semapv:UnspecifiedMatching OMIM:140050 GZMA skos:exactMatch UMLS:C1415379 semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch hgnc.symbol:GZMA semapv:UnspecifiedMatching OMIM:140050 GZMA skos:exactMatch ncbigene:3001 semapv:UnspecifiedMatching OMIM:140100 HP skos:exactMatch hgnc.symbol:HP semapv:UnspecifiedMatching OMIM:140100 HP skos:exactMatch ncbigene:3240 semapv:UnspecifiedMatching OMIM:140210 HPR skos:exactMatch hgnc.symbol:HPR semapv:UnspecifiedMatching OMIM:140210 HPR skos:exactMatch ncbigene:3250 semapv:UnspecifiedMatching -OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching OMIM:140350 hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching -OMIM:140550 HSPA1A skos:exactMatch ncbigene:3303 semapv:UnspecifiedMatching +OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:HSPA1A semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch ncbigene:3303 semapv:UnspecifiedMatching OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:HSPA6 semapv:UnspecifiedMatching OMIM:140555 HSPA6 skos:exactMatch ncbigene:3310 semapv:UnspecifiedMatching OMIM:140556 HSPA7 skos:exactMatch UMLS:C1415763 semapv:UnspecifiedMatching OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:HSPA7 semapv:UnspecifiedMatching OMIM:140556 HSPA7 skos:exactMatch ncbigene:3311 semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch UMLS:C1415757 semapv:UnspecifiedMatching OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:HSPA1L semapv:UnspecifiedMatching OMIM:140559 HSPA1L skos:exactMatch ncbigene:3305 semapv:UnspecifiedMatching -OMIM:140560 HSPA2 skos:exactMatch ncbigene:3306 semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch UMLS:C1415757 semapv:UnspecifiedMatching OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:HSPA2 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch ncbigene:3306 semapv:UnspecifiedMatching OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:HSP90AA1 semapv:UnspecifiedMatching OMIM:140571 HSP90AA1 skos:exactMatch ncbigene:3320 semapv:UnspecifiedMatching OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:HSP90AB1 semapv:UnspecifiedMatching OMIM:140572 HSP90AB1 skos:exactMatch ncbigene:3326 semapv:UnspecifiedMatching OMIM:140575 HSP90AA2 skos:exactMatch hgnc.symbol:HSP90AA2P semapv:UnspecifiedMatching OMIM:140575 HSP90AA2 skos:exactMatch ncbigene:3324 semapv:UnspecifiedMatching -OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:HSF1 semapv:UnspecifiedMatching OMIM:140580 HSF1 skos:exactMatch ncbigene:3297 semapv:UnspecifiedMatching -OMIM:140581 HSF2 skos:exactMatch ncbigene:3298 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:HSF1 semapv:UnspecifiedMatching OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:HSF2 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch ncbigene:3298 semapv:UnspecifiedMatching OMIM:140750 ST5 skos:exactMatch hgnc.symbol:DENND2B semapv:UnspecifiedMatching OMIM:140750 ST5 skos:exactMatch ncbigene:6764 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch UMLS:C1826388 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:NCKAP1L semapv:UnspecifiedMatching OMIM:141180 NCKAP1L skos:exactMatch ncbigene:3071 semapv:UnspecifiedMatching -OMIM:141250 HMOX1 skos:exactMatch ncbigene:3162 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch UMLS:C1826388 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:HMOX1 semapv:UnspecifiedMatching -OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch ncbigene:3162 semapv:UnspecifiedMatching OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:HMOX2 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:HBA1 semapv:UnspecifiedMatching OMIM:141800 HBA1 skos:exactMatch ncbigene:3039 semapv:UnspecifiedMatching -OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:HBA2 semapv:UnspecifiedMatching OMIM:141850 HBA2 skos:exactMatch ncbigene:3040 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:HBA2 semapv:UnspecifiedMatching OMIM:141900 HBB skos:exactMatch hgnc.symbol:HBB semapv:UnspecifiedMatching OMIM:141900 HBB skos:exactMatch ncbigene:3043 semapv:UnspecifiedMatching -OMIM:142000 HBD skos:exactMatch ncbigene:3045 semapv:UnspecifiedMatching OMIM:142000 HBD skos:exactMatch hgnc.symbol:HBD semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch ncbigene:3045 semapv:UnspecifiedMatching OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:HBE1 semapv:UnspecifiedMatching OMIM:142100 HBE1 skos:exactMatch ncbigene:3046 semapv:UnspecifiedMatching OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:HBG1 semapv:UnspecifiedMatching @@ -2672,19 +2672,20 @@ OMIM:142230 CD34 skos:exactMatch hgnc.symbol:CD34 semapv:UnspecifiedMatching OMIM:142230 CD34 skos:exactMatch ncbigene:947 semapv:UnspecifiedMatching OMIM:142240 HBQ1 skos:exactMatch ncbigene:3049 semapv:UnspecifiedMatching OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:HBQ1 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891102 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016200 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016201 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016202 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016203 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4016204 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016203 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285097 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016202 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285103 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891101 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016200 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891102 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016201 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285104 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891101 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285224 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285225 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285226 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285227 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285228 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285229 semapv:UnspecifiedMatching @@ -2694,171 +2695,170 @@ OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:HBG2 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch ncbigene:3048 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285105 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891100 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285226 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3151421 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891098 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C0019025 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C1415486 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3151421 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891080 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891081 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891082 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891083 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891084 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891085 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891086 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891087 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891085 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891099 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891089 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891090 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891091 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891092 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891093 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891094 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891095 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891096 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891097 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C3891088 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891099 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891095 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891094 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891096 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891092 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891091 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891090 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891093 semapv:UnspecifiedMatching OMIM:142290 HPX skos:exactMatch hgnc.symbol:HPX semapv:UnspecifiedMatching OMIM:142290 HPX skos:exactMatch ncbigene:3263 semapv:UnspecifiedMatching -OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching OMIM:142310 HBZ skos:exactMatch hgnc.symbol:HBZ semapv:UnspecifiedMatching -OMIM:142360 HCF2 skos:exactMatch ncbigene:3053 semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:SERPIND1 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch ncbigene:3053 semapv:UnspecifiedMatching OMIM:142370 HCK skos:exactMatch hgnc.symbol:HCK semapv:UnspecifiedMatching OMIM:142370 HCK skos:exactMatch ncbigene:3055 semapv:UnspecifiedMatching -OMIM:142385 HLF skos:exactMatch hgnc.symbol:HLF semapv:UnspecifiedMatching OMIM:142385 HLF skos:exactMatch ncbigene:3131 semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch hgnc.symbol:HLF semapv:UnspecifiedMatching OMIM:142408 MST1 skos:exactMatch hgnc.symbol:MST1 semapv:UnspecifiedMatching OMIM:142408 MST1 skos:exactMatch ncbigene:4485 semapv:UnspecifiedMatching OMIM:142409 HGF skos:exactMatch hgnc.symbol:HGF semapv:UnspecifiedMatching OMIM:142409 HGF skos:exactMatch ncbigene:3082 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch ncbigene:6927 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:HNF1A semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C3276902 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1840623 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C1838100 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C1420631 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C1266042 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1840623 semapv:UnspecifiedMatching OMIM:142440 HPN skos:exactMatch hgnc.symbol:HPN semapv:UnspecifiedMatching OMIM:142440 HPN skos:exactMatch ncbigene:3249 semapv:UnspecifiedMatching -OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:NRG1 semapv:UnspecifiedMatching OMIM:142445 NRG1 skos:exactMatch ncbigene:3084 semapv:UnspecifiedMatching -OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:SDC2 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:NRG1 semapv:UnspecifiedMatching OMIM:142460 SDC2 skos:exactMatch ncbigene:6383 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:SDC2 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch UMLS:C1415793 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:HSPG2 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch UMLS:C1415793 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch UMLS:C1422269 semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:DDX39B semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch ncbigene:7919 semapv:UnspecifiedMatching -OMIM:142570 HK3 skos:exactMatch hgnc.symbol:HK3 semapv:UnspecifiedMatching OMIM:142570 HK3 skos:exactMatch ncbigene:3101 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch hgnc.symbol:HK3 semapv:UnspecifiedMatching OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:PRRC2A semapv:UnspecifiedMatching OMIM:142580 PRRC2A skos:exactMatch ncbigene:7916 semapv:UnspecifiedMatching -OMIM:142590 BAG6 skos:exactMatch ncbigene:7917 semapv:UnspecifiedMatching OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:BAG6 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C1415554 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch ncbigene:7917 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch ncbigene:3098 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch hgnc.symbol:HK1 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C4479526 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C5231404 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch hgnc.symbol:HK1 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch ncbigene:3098 semapv:UnspecifiedMatching -OMIM:142610 GPANK1 skos:exactMatch ncbigene:7918 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C1415554 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:GPANK1 semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch ncbigene:7920 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch ncbigene:7918 semapv:UnspecifiedMatching OMIM:142620 ABHD16A skos:exactMatch UMLS:C1422273 semapv:UnspecifiedMatching OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:ABHD16A semapv:UnspecifiedMatching -OMIM:142622 HPCA skos:exactMatch hgnc.symbol:HPCA semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch ncbigene:7920 semapv:UnspecifiedMatching OMIM:142622 HPCA skos:exactMatch ncbigene:3208 semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch hgnc.symbol:HPCA semapv:UnspecifiedMatching OMIM:142640 HRG skos:exactMatch hgnc.symbol:HRG semapv:UnspecifiedMatching OMIM:142640 HRG skos:exactMatch ncbigene:3273 semapv:UnspecifiedMatching OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching -OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:HDLBP semapv:UnspecifiedMatching -OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:HTN1 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:HTN3 semapv:UnspecifiedMatching OMIM:142702 HTN3 skos:exactMatch ncbigene:3347 semapv:UnspecifiedMatching -OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:HRH2 semapv:UnspecifiedMatching OMIM:142703 HRH2 skos:exactMatch ncbigene:3274 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:HRH2 semapv:UnspecifiedMatching OMIM:142704 HDC skos:exactMatch hgnc.symbol:HDC semapv:UnspecifiedMatching OMIM:142704 HDC skos:exactMatch ncbigene:3067 semapv:UnspecifiedMatching -OMIM:142705 HRC skos:exactMatch ncbigene:3270 semapv:UnspecifiedMatching OMIM:142705 HRC skos:exactMatch hgnc.symbol:HRC semapv:UnspecifiedMatching -OMIM:142708 H1F0 skos:exactMatch ncbigene:3005 semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch ncbigene:3270 semapv:UnspecifiedMatching OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:H1-0 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch ncbigene:3005 semapv:UnspecifiedMatching OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:H1-1 semapv:UnspecifiedMatching OMIM:142709 HIST1H1A skos:exactMatch ncbigene:3024 semapv:UnspecifiedMatching -OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:H1-2 semapv:UnspecifiedMatching OMIM:142710 HIST1H1C skos:exactMatch ncbigene:3006 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:H1-2 semapv:UnspecifiedMatching OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:H1-5 semapv:UnspecifiedMatching OMIM:142711 HIST1H1B skos:exactMatch ncbigene:3009 semapv:UnspecifiedMatching OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:H1-6 semapv:UnspecifiedMatching OMIM:142712 HIST1H1T skos:exactMatch ncbigene:3010 semapv:UnspecifiedMatching -OMIM:142720 HIST2H2AA3 skos:exactMatch ncbigene:8337 semapv:UnspecifiedMatching OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:H2AC18 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch ncbigene:8337 semapv:UnspecifiedMatching OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:H4C14 semapv:UnspecifiedMatching OMIM:142750 H4C14 skos:exactMatch ncbigene:8370 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch UMLS:C1415408 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:H2AZ1 semapv:UnspecifiedMatching OMIM:142763 H2AZ1 skos:exactMatch ncbigene:3015 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:H2AZ1 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch UMLS:C1415408 semapv:UnspecifiedMatching OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:RFX2 semapv:UnspecifiedMatching OMIM:142765 RFX2 skos:exactMatch ncbigene:5990 semapv:UnspecifiedMatching -OMIM:142780 HIST2H3C skos:exactMatch ncbigene:126961 semapv:UnspecifiedMatching OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:H3C14 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch ncbigene:126961 semapv:UnspecifiedMatching OMIM:142790 CD74 skos:exactMatch hgnc.symbol:CD74 semapv:UnspecifiedMatching OMIM:142790 CD74 skos:exactMatch ncbigene:972 semapv:UnspecifiedMatching OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:HLA-A semapv:UnspecifiedMatching OMIM:142800 HLA-A skos:exactMatch ncbigene:3105 semapv:UnspecifiedMatching -OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:HARS1 semapv:UnspecifiedMatching OMIM:142810 HARS1 skos:exactMatch ncbigene:3035 semapv:UnspecifiedMatching -OMIM:142830 HLA-B skos:exactMatch ncbigene:3106 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:HARS1 semapv:UnspecifiedMatching OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:HLA-B semapv:UnspecifiedMatching -OMIM:142840 HLA-C skos:exactMatch ncbigene:3107 semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch ncbigene:3106 semapv:UnspecifiedMatching OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:HLA-C semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch ncbigene:3107 semapv:UnspecifiedMatching OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:HLA-DMA semapv:UnspecifiedMatching OMIM:142855 HLA-DMA skos:exactMatch ncbigene:3108 semapv:UnspecifiedMatching OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:HLA-DMB semapv:UnspecifiedMatching OMIM:142856 HLA-DMB skos:exactMatch ncbigene:3109 semapv:UnspecifiedMatching -OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:HLA-DRB1 semapv:UnspecifiedMatching OMIM:142857 HLA-DRB1 skos:exactMatch ncbigene:3123 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:HLA-DRB1 semapv:UnspecifiedMatching OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:HLA-DPB1 semapv:UnspecifiedMatching OMIM:142858 HLA-DPB1 skos:exactMatch ncbigene:3115 semapv:UnspecifiedMatching -OMIM:142860 HLA-DRA skos:exactMatch ncbigene:3122 semapv:UnspecifiedMatching OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:HLA-DRA semapv:UnspecifiedMatching -OMIM:142871 HLA-G skos:exactMatch ncbigene:3135 semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch ncbigene:3122 semapv:UnspecifiedMatching OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:HLA-G semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch ncbigene:3135 semapv:UnspecifiedMatching OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:HLA-DPA1 semapv:UnspecifiedMatching OMIM:142880 HLA-DPA1 skos:exactMatch ncbigene:3113 semapv:UnspecifiedMatching -OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:HMGCR semapv:UnspecifiedMatching OMIM:142910 HMGCR skos:exactMatch ncbigene:3156 semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:HMGCR semapv:UnspecifiedMatching OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:HLA-DOA semapv:UnspecifiedMatching OMIM:142930 HLA-DNA skos:exactMatch ncbigene:3111 semapv:UnspecifiedMatching OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:HMGCS1 semapv:UnspecifiedMatching OMIM:142940 HMGCS1 skos:exactMatch ncbigene:3157 semapv:UnspecifiedMatching -OMIM:142950 HOXA7 skos:exactMatch ncbigene:3204 semapv:UnspecifiedMatching OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:HOXA7 semapv:UnspecifiedMatching -OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:HOXA6 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch ncbigene:3204 semapv:UnspecifiedMatching OMIM:142951 HOXA6 skos:exactMatch ncbigene:3203 semapv:UnspecifiedMatching -OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:HOXA5 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:HOXA6 semapv:UnspecifiedMatching OMIM:142952 HOXA5 skos:exactMatch ncbigene:3202 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:HOXA5 semapv:UnspecifiedMatching OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:HOXA4 semapv:UnspecifiedMatching OMIM:142953 HOXA4 skos:exactMatch ncbigene:3201 semapv:UnspecifiedMatching OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:HOXA3 semapv:UnspecifiedMatching OMIM:142954 HOXA3 skos:exactMatch ncbigene:3200 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch ncbigene:3198 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:HOXA1 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch UMLS:C1415653 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch ncbigene:3198 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch UMLS:C1415653 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:HOXA9 semapv:UnspecifiedMatching OMIM:142956 HOXA9 skos:exactMatch ncbigene:3205 semapv:UnspecifiedMatching OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:HOXA10 semapv:UnspecifiedMatching @@ -2867,60 +2867,60 @@ OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:HOXA11 semapv:UnspecifiedMatching OMIM:142958 HOXA11 skos:exactMatch ncbigene:3207 semapv:UnspecifiedMatching OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:HOXA13 semapv:UnspecifiedMatching OMIM:142959 HOXA13 skos:exactMatch ncbigene:3209 semapv:UnspecifiedMatching -OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:HOXB5 semapv:UnspecifiedMatching OMIM:142960 HOXB5 skos:exactMatch ncbigene:3215 semapv:UnspecifiedMatching -OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:HOXB6 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:HOXB5 semapv:UnspecifiedMatching OMIM:142961 HOXB6 skos:exactMatch ncbigene:3216 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:HOXB6 semapv:UnspecifiedMatching OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:HOXB7 semapv:UnspecifiedMatching OMIM:142962 HOXB7 skos:exactMatch ncbigene:3217 semapv:UnspecifiedMatching OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:HOXB8 semapv:UnspecifiedMatching OMIM:142963 HOXB8 skos:exactMatch ncbigene:3218 semapv:UnspecifiedMatching -OMIM:142964 HOXB9 skos:exactMatch ncbigene:3219 semapv:UnspecifiedMatching OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:HOXB9 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch ncbigene:3219 semapv:UnspecifiedMatching OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:HOXB4 semapv:UnspecifiedMatching OMIM:142965 HOXB4 skos:exactMatch ncbigene:3214 semapv:UnspecifiedMatching -OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:HOXB3 semapv:UnspecifiedMatching OMIM:142966 HOXB3 skos:exactMatch ncbigene:3213 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:HOXB3 semapv:UnspecifiedMatching OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:HOXB2 semapv:UnspecifiedMatching OMIM:142967 HOXB2 skos:exactMatch ncbigene:3212 semapv:UnspecifiedMatching OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:HOXB1 semapv:UnspecifiedMatching OMIM:142968 HOXB1 skos:exactMatch ncbigene:3211 semapv:UnspecifiedMatching -OMIM:142970 HOXC8 skos:exactMatch ncbigene:3224 semapv:UnspecifiedMatching OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:HOXC8 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch ncbigene:3224 semapv:UnspecifiedMatching OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:HOXC9 semapv:UnspecifiedMatching OMIM:142971 HOXC9 skos:exactMatch ncbigene:3225 semapv:UnspecifiedMatching -OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:HOXC6 semapv:UnspecifiedMatching OMIM:142972 HOXC6 skos:exactMatch ncbigene:3223 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:HOXC6 semapv:UnspecifiedMatching OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:HOXC5 semapv:UnspecifiedMatching OMIM:142973 HOXC5 skos:exactMatch ncbigene:3222 semapv:UnspecifiedMatching OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:HOXC4 semapv:UnspecifiedMatching OMIM:142974 HOXC4 skos:exactMatch ncbigene:3221 semapv:UnspecifiedMatching -OMIM:142975 HOXC12 skos:exactMatch ncbigene:3228 semapv:UnspecifiedMatching OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:HOXC12 semapv:UnspecifiedMatching -OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:HOXC13 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch ncbigene:3228 semapv:UnspecifiedMatching OMIM:142976 HOXC13 skos:exactMatch ncbigene:3229 semapv:UnspecifiedMatching -OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:HOXD3 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:HOXC13 semapv:UnspecifiedMatching OMIM:142980 HOXD3 skos:exactMatch ncbigene:3232 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:HOXD3 semapv:UnspecifiedMatching OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:HOXD4 semapv:UnspecifiedMatching OMIM:142981 HOXD4 skos:exactMatch ncbigene:3233 semapv:UnspecifiedMatching OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:HOXD9 semapv:UnspecifiedMatching OMIM:142982 HOXD9 skos:exactMatch ncbigene:3235 semapv:UnspecifiedMatching -OMIM:142983 MSX1 skos:exactMatch ncbigene:4487 semapv:UnspecifiedMatching OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:MSX1 semapv:UnspecifiedMatching -OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:HOXD10 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch ncbigene:4487 semapv:UnspecifiedMatching OMIM:142984 HOXD10 skos:exactMatch ncbigene:3236 semapv:UnspecifiedMatching -OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:HOXD8 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:HOXD10 semapv:UnspecifiedMatching OMIM:142985 HOXD8 skos:exactMatch ncbigene:3234 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:HOXD8 semapv:UnspecifiedMatching OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:HOXD11 semapv:UnspecifiedMatching OMIM:142986 HOXD11 skos:exactMatch ncbigene:3237 semapv:UnspecifiedMatching OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:HOXD1 semapv:UnspecifiedMatching OMIM:142987 HOXD1 skos:exactMatch ncbigene:3231 semapv:UnspecifiedMatching -OMIM:142988 HOXD12 skos:exactMatch ncbigene:3238 semapv:UnspecifiedMatching OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:HOXD12 semapv:UnspecifiedMatching -OMIM:142989 HOXD13 skos:exactMatch ncbigene:3239 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch ncbigene:3238 semapv:UnspecifiedMatching OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:HOXD13 semapv:UnspecifiedMatching -OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:EVX2 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch ncbigene:3239 semapv:UnspecifiedMatching OMIM:142991 EVX2 skos:exactMatch ncbigene:344191 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:EVX2 semapv:UnspecifiedMatching OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:HMX1 semapv:UnspecifiedMatching OMIM:142992 HMX1 skos:exactMatch ncbigene:3166 semapv:UnspecifiedMatching OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:VSX2 semapv:UnspecifiedMatching @@ -2929,28 +2929,28 @@ OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:MNX1 semapv:UnspecifiedMatching OMIM:142994 MNX1 skos:exactMatch ncbigene:3110 semapv:UnspecifiedMatching OMIM:142995 HLX skos:exactMatch ncbigene:3142 semapv:UnspecifiedMatching OMIM:142995 HLX skos:exactMatch hgnc.symbol:HLX semapv:UnspecifiedMatching -OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:EVX1 semapv:UnspecifiedMatching OMIM:142996 EVX1 skos:exactMatch ncbigene:2128 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:EVX1 semapv:UnspecifiedMatching OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:HLA-E semapv:UnspecifiedMatching OMIM:143010 HLA-E skos:exactMatch ncbigene:3133 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:RASSF7 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch ncbigene:8045 semapv:UnspecifiedMatching OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:GNL1 semapv:UnspecifiedMatching OMIM:143024 GNL1 skos:exactMatch ncbigene:2794 semapv:UnspecifiedMatching -OMIM:143025 HRES1 skos:exactMatch ncbigene:3272 semapv:UnspecifiedMatching OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:HRES1 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch ncbigene:3272 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch ncbigene:928 semapv:UnspecifiedMatching OMIM:143030 CD9 skos:exactMatch UMLS:C1413246 semapv:UnspecifiedMatching OMIM:143030 CD9 skos:exactMatch hgnc.symbol:CD9 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch ncbigene:928 semapv:UnspecifiedMatching OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:HIVEP2 semapv:UnspecifiedMatching OMIM:143054 HIVEP2 skos:exactMatch ncbigene:3097 semapv:UnspecifiedMatching OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:CCNT1 semapv:UnspecifiedMatching OMIM:143055 CCNT1 skos:exactMatch ncbigene:904 semapv:UnspecifiedMatching OMIM:143089 HTLF skos:exactMatch ncbigene:3344 semapv:UnspecifiedMatching OMIM:143089 HTLF skos:exactMatch hgnc.symbol:FOXN2 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching OMIM:143100 huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching OMIM:143100 huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching OMIM:143110 HLA-F skos:exactMatch UMLS:C1415586 semapv:UnspecifiedMatching OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:HLA-F semapv:UnspecifiedMatching OMIM:143110 HLA-F skos:exactMatch ncbigene:3134 semapv:UnspecifiedMatching @@ -2968,8 +2968,8 @@ OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C3888316 sema OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C2750825 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0007134 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch UMLS:C0432273 semapv:UnspecifiedMatching OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch UMLS:C0796179 semapv:UnspecifiedMatching @@ -2977,50 +2977,50 @@ OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 semapv: OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:ACSM3 semapv:UnspecifiedMatching OMIM:145505 ACSM3 skos:exactMatch ncbigene:6296 semapv:UnspecifiedMatching OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:165994 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching OMIM:146300 hypophosphatasia, adult skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching -OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching -OMIM:146550 hypotrichosis 4 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching +OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching OMIM:146550 hypotrichosis 4 skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching +OMIM:146550 hypotrichosis 4 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:ICAM2 semapv:UnspecifiedMatching OMIM:146630 ICAM2 skos:exactMatch ncbigene:3384 semapv:UnspecifiedMatching OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:ICAM3 semapv:UnspecifiedMatching OMIM:146631 ICAM3 skos:exactMatch ncbigene:3385 semapv:UnspecifiedMatching OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:ITIH2 semapv:UnspecifiedMatching OMIM:146640 ITIH2 skos:exactMatch ncbigene:3698 semapv:UnspecifiedMatching -OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:ITIH3 semapv:UnspecifiedMatching OMIM:146650 ITIH3 skos:exactMatch ncbigene:3699 semapv:UnspecifiedMatching -OMIM:146660 IL7 skos:exactMatch ncbigene:3574 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:ITIH3 semapv:UnspecifiedMatching OMIM:146660 IL7 skos:exactMatch hgnc.symbol:IL7 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch ncbigene:3574 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C1334123 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C1837028 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch hgnc.symbol:IL7R semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch ncbigene:3575 semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch UMLS:C1415875 semapv:UnspecifiedMatching OMIM:146680 IDE skos:exactMatch hgnc.symbol:IDE semapv:UnspecifiedMatching OMIM:146680 IDE skos:exactMatch ncbigene:3416 semapv:UnspecifiedMatching -OMIM:146690 IMPDH1 skos:exactMatch ncbigene:3614 semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch UMLS:C1415875 semapv:UnspecifiedMatching OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:IMPDH1 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch ncbigene:3614 semapv:UnspecifiedMatching OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:IMPDH2 semapv:UnspecifiedMatching OMIM:146691 IMPDH2 skos:exactMatch ncbigene:3615 semapv:UnspecifiedMatching OMIM:146700 ichthyosis vulgaris skos:exactMatch UMLS:C0079584 semapv:UnspecifiedMatching @@ -3042,8 +3042,8 @@ OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:INSL3 semapv:UnspecifiedMatching OMIM:146738 INSL3 skos:exactMatch ncbigene:3640 semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch ncbigene:2214 semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:FCGR3A semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch UMLS:C1414555 semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch UMLS:C1414555 semapv:UnspecifiedMatching OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching OMIM:146760 FCGR1A skos:exactMatch UMLS:C1414550 semapv:UnspecifiedMatching @@ -3055,12 +3055,12 @@ OMIM:146770 IGLL1 skos:exactMatch ncbigene:3543 semapv:UnspecifiedMatching OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:IGLL1 semapv:UnspecifiedMatching OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:IGKDEL semapv:UnspecifiedMatching OMIM:146780 IGKDEL skos:exactMatch ncbigene:3515 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1414553 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1840270 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1970029 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C4016213 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:FCGR2A semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:HLA-DQA1 semapv:UnspecifiedMatching @@ -3069,8 +3069,8 @@ OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:IGHA1 semapv:UnspecifiedMatching OMIM:146900 IGHA1 skos:exactMatch ncbigene:3493 semapv:UnspecifiedMatching OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:146910 IGHD@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:146920 ADAR skos:exactMatch hgnc.symbol:ADAR semapv:UnspecifiedMatching OMIM:146920 ADAR skos:exactMatch ncbigene:103 semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch hgnc.symbol:ADAR semapv:UnspecifiedMatching OMIM:146928 CXCR2 skos:exactMatch ncbigene:3579 semapv:UnspecifiedMatching OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:CXCR2 semapv:UnspecifiedMatching OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:CXCR1 semapv:UnspecifiedMatching @@ -3080,8 +3080,8 @@ OMIM:146930 CXCL8 skos:exactMatch ncbigene:3576 semapv:UnspecifiedMatching OMIM:146931 IL9 skos:exactMatch UMLS:C1334127 semapv:UnspecifiedMatching OMIM:146931 IL9 skos:exactMatch hgnc.symbol:IL9 semapv:UnspecifiedMatching OMIM:146931 IL9 skos:exactMatch ncbigene:3578 semapv:UnspecifiedMatching -OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:IL10RA semapv:UnspecifiedMatching OMIM:146933 IL10RA skos:exactMatch ncbigene:3587 semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:IL10RA semapv:UnspecifiedMatching OMIM:146970 IGKJ@ skos:exactMatch ncbigene:7842 semapv:UnspecifiedMatching OMIM:146980 IGKV@ skos:exactMatch ncbigene:3519 semapv:UnspecifiedMatching OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:IGHA2 semapv:UnspecifiedMatching @@ -3090,49 +3090,49 @@ OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147010 IGHJ@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching OMIM:147020 IGHM skos:exactMatch hgnc.symbol:IGHM semapv:UnspecifiedMatching OMIM:147020 IGHM skos:exactMatch ncbigene:3507 semapv:UnspecifiedMatching -OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:IFIT2 semapv:UnspecifiedMatching OMIM:147040 IFIT2 skos:exactMatch ncbigene:3433 semapv:UnspecifiedMatching -OMIM:147045 FCAR skos:exactMatch ncbigene:2204 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:IFIT2 semapv:UnspecifiedMatching OMIM:147045 FCAR skos:exactMatch hgnc.symbol:FCAR semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch ncbigene:2204 semapv:UnspecifiedMatching OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching -OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147070 IGHV@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch ncbigene:3500 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch UMLS:C1415978 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:IGHG1 semapv:UnspecifiedMatching -OMIM:147110 IGHG2 skos:exactMatch ncbigene:3501 semapv:UnspecifiedMatching OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:IGHG2 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch ncbigene:3501 semapv:UnspecifiedMatching OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:IGHG3 semapv:UnspecifiedMatching OMIM:147120 IGHG3 skos:exactMatch ncbigene:3502 semapv:UnspecifiedMatching OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:IGHG4 semapv:UnspecifiedMatching OMIM:147130 IGHG4 skos:exactMatch ncbigene:3503 semapv:UnspecifiedMatching OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:MS4A2 semapv:UnspecifiedMatching OMIM:147138 MS4A2 skos:exactMatch ncbigene:2206 semapv:UnspecifiedMatching -OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:FCER1G semapv:UnspecifiedMatching OMIM:147139 FCER1G skos:exactMatch ncbigene:2207 semapv:UnspecifiedMatching -OMIM:147140 FCER1A skos:exactMatch ncbigene:2205 semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:FCER1G semapv:UnspecifiedMatching OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:FCER1A semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch ncbigene:2205 semapv:UnspecifiedMatching OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:TCF3 semapv:UnspecifiedMatching OMIM:147141 TCF3 skos:exactMatch ncbigene:6929 semapv:UnspecifiedMatching OMIM:147150 MX1 skos:exactMatch hgnc.symbol:MX1 semapv:UnspecifiedMatching OMIM:147150 MX1 skos:exactMatch ncbigene:4599 semapv:UnspecifiedMatching OMIM:147170 IGHD skos:exactMatch hgnc.symbol:IGHD semapv:UnspecifiedMatching OMIM:147170 IGHD skos:exactMatch ncbigene:3495 semapv:UnspecifiedMatching -OMIM:147180 IGHE skos:exactMatch hgnc.symbol:IGHE semapv:UnspecifiedMatching OMIM:147180 IGHE skos:exactMatch ncbigene:3497 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch ncbigene:3516 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:RBPJ semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch hgnc.symbol:IGHE semapv:UnspecifiedMatching OMIM:147183 RBPJ skos:exactMatch UMLS:C1416171 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:RBPJ semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch ncbigene:3516 semapv:UnspecifiedMatching OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:IGKV1OR2-108 semapv:UnspecifiedMatching OMIM:147185 IGKV1OR2108 skos:exactMatch ncbigene:28862 semapv:UnspecifiedMatching OMIM:147200 IGKC skos:exactMatch hgnc.symbol:IGKC semapv:UnspecifiedMatching OMIM:147200 IGKC skos:exactMatch ncbigene:3514 semapv:UnspecifiedMatching -OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:IGLC1 semapv:UnspecifiedMatching OMIM:147220 IGLC1 skos:exactMatch ncbigene:3537 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:IGLC1 semapv:UnspecifiedMatching OMIM:147230 IGLJ@ skos:exactMatch ncbigene:8217 semapv:UnspecifiedMatching OMIM:147240 IGLV@ skos:exactMatch ncbigene:3546 semapv:UnspecifiedMatching OMIM:147245 CD79B skos:exactMatch hgnc.symbol:CD79B semapv:UnspecifiedMatching @@ -3142,61 +3142,61 @@ OMIM:147263 INPP1 skos:exactMatch ncbigene:3628 semapv:UnspecifiedMatching OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:INPP5B semapv:UnspecifiedMatching OMIM:147264 INPP5B skos:exactMatch ncbigene:3633 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch ncbigene:3708 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:ITPR1 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C1334148 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:ITPR3 semapv:UnspecifiedMatching OMIM:147267 ITPR3 skos:exactMatch ncbigene:3710 semapv:UnspecifiedMatching -OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:ITIH1 semapv:UnspecifiedMatching OMIM:147270 ITIH1 skos:exactMatch ncbigene:3697 semapv:UnspecifiedMatching -OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:IGF2R semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:ITIH1 semapv:UnspecifiedMatching OMIM:147280 IGF2R skos:exactMatch ncbigene:3482 semapv:UnspecifiedMatching -OMIM:147290 INHBA skos:exactMatch ncbigene:3624 semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:IGF2R semapv:UnspecifiedMatching OMIM:147290 INHBA skos:exactMatch hgnc.symbol:INHBA semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch ncbigene:3624 semapv:UnspecifiedMatching OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:CXCL10 semapv:UnspecifiedMatching OMIM:147310 CXCL10 skos:exactMatch ncbigene:3627 semapv:UnspecifiedMatching OMIM:147360 IVL skos:exactMatch hgnc.symbol:IVL semapv:UnspecifiedMatching OMIM:147360 IVL skos:exactMatch ncbigene:3713 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch ncbigene:3480 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:IGF1R semapv:UnspecifiedMatching OMIM:147370 IGF1R skos:exactMatch UMLS:C1334088 semapv:UnspecifiedMatching OMIM:147370 IGF1R skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:IGF1R semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch ncbigene:3480 semapv:UnspecifiedMatching OMIM:147380 INHA skos:exactMatch hgnc.symbol:INHA semapv:UnspecifiedMatching OMIM:147380 INHA skos:exactMatch ncbigene:3623 semapv:UnspecifiedMatching -OMIM:147390 INHBB skos:exactMatch ncbigene:3625 semapv:UnspecifiedMatching OMIM:147390 INHBB skos:exactMatch hgnc.symbol:INHBB semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch ncbigene:3625 semapv:UnspecifiedMatching OMIM:147430 marsili syndrome skos:exactMatch UMLS:C1840219 semapv:UnspecifiedMatching OMIM:147430 marsili syndrome skos:exactMatch UMLS:C4538468 semapv:UnspecifiedMatching OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:IDO1 semapv:UnspecifiedMatching OMIM:147435 IDO1 skos:exactMatch ncbigene:3620 semapv:UnspecifiedMatching -OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:IGF1 semapv:UnspecifiedMatching OMIM:147440 IGF1 skos:exactMatch ncbigene:3479 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch ncbigene:6647 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:SOD1 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:IGF1 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C1420306 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C3542025 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C1420307 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:SOD1 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch ncbigene:6647 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C4016223 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:SOD2 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch ncbigene:6648 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch ncbigene:3481 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:SOD2 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C1420307 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C4016223 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:IGF2 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C1334091 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C4016224 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch ncbigene:3481 semapv:UnspecifiedMatching OMIM:147485 IPP skos:exactMatch hgnc.symbol:IPP semapv:UnspecifiedMatching OMIM:147485 IPP skos:exactMatch ncbigene:3652 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch hgnc.symbol:ITPA semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch ncbigene:3704 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch hgnc.symbol:ITPA semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch UMLS:C0342800 semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch UMLS:C1416514 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:ITPKA semapv:UnspecifiedMatching OMIM:147521 ITPKA skos:exactMatch ncbigene:3706 semapv:UnspecifiedMatching OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:ITPKB semapv:UnspecifiedMatching @@ -3233,29 +3233,29 @@ OMIM:147569 IFNGR2 skos:exactMatch UMLS:C1334084 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:IFNGR2 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch ncbigene:3460 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch ncbigene:3458 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch hgnc.symbol:IFNG semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch hgnc.symbol:IFNG semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch ncbigene:3458 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C4016227 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C2684859 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C2750389 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C2750389 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C1334085 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C2750460 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C2684859 semapv:UnspecifiedMatching OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:ISG15 semapv:UnspecifiedMatching OMIM:147571 ISG15 skos:exactMatch ncbigene:9636 semapv:UnspecifiedMatching OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:IFI6 semapv:UnspecifiedMatching OMIM:147572 IFI6 skos:exactMatch ncbigene:2537 semapv:UnspecifiedMatching -OMIM:147573 IFNR skos:exactMatch ncbigene:3466 semapv:UnspecifiedMatching OMIM:147573 IFNR skos:exactMatch hgnc.symbol:IFNR semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch ncbigene:3466 semapv:UnspecifiedMatching OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:IRF9 semapv:UnspecifiedMatching OMIM:147574 IRF9 skos:exactMatch ncbigene:10379 semapv:UnspecifiedMatching OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:IRF1 semapv:UnspecifiedMatching OMIM:147575 IRF1 skos:exactMatch ncbigene:3659 semapv:UnspecifiedMatching OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:IRF2 semapv:UnspecifiedMatching OMIM:147576 IRF2 skos:exactMatch ncbigene:3660 semapv:UnspecifiedMatching -OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:IFNA10 semapv:UnspecifiedMatching OMIM:147577 IFNA10 skos:exactMatch ncbigene:3446 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:IFNA10 semapv:UnspecifiedMatching OMIM:147578 IFNA13 skos:exactMatch ncbigene:3447 semapv:UnspecifiedMatching OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:IFNA13 semapv:UnspecifiedMatching OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:IFNA14 semapv:UnspecifiedMatching @@ -3270,16 +3270,16 @@ OMIM:147584 IFNA21 skos:exactMatch ncbigene:3452 semapv:UnspecifiedMatching OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:IFNA21 semapv:UnspecifiedMatching OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:IFI16 semapv:UnspecifiedMatching OMIM:147586 IFI16 skos:exactMatch ncbigene:3428 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch ncbigene:3569 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch hgnc.symbol:IL6 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C4016229 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C4016228 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch ncbigene:3569 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C3837968 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C4016229 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C3538945 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C2675113 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C1840138 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C1334122 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C1840138 semapv:UnspecifiedMatching OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:ICA1 semapv:UnspecifiedMatching OMIM:147625 ICA1 skos:exactMatch ncbigene:3382 semapv:UnspecifiedMatching OMIM:147630 insulinomatosis and diabetes mellitus skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching @@ -3287,38 +3287,38 @@ OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:IFNB1 semapv:UnspecifiedMatching OMIM:147640 IFNB1 skos:exactMatch ncbigene:3456 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch ncbigene:3418 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:IDH2 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch UMLS:C1415877 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:IFNA1 semapv:UnspecifiedMatching OMIM:147660 IFNA1 skos:exactMatch ncbigene:3439 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C1334133 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch ncbigene:3643 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch hgnc.symbol:INSR semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C1334133 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0854110 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0854110 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0342278 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0271695 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0265344 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0021655 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0342278 semapv:UnspecifiedMatching OMIM:147671 INSRR skos:exactMatch hgnc.symbol:INSRR semapv:UnspecifiedMatching OMIM:147671 INSRR skos:exactMatch ncbigene:3645 semapv:UnspecifiedMatching OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:CASP1 semapv:UnspecifiedMatching OMIM:147678 CASP1 skos:exactMatch ncbigene:834 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:IL1RN semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch ncbigene:3557 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:IL1RN semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C4016230 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C1416402 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching -OMIM:147680 IL2 skos:exactMatch hgnc.symbol:IL2 semapv:UnspecifiedMatching OMIM:147680 IL2 skos:exactMatch ncbigene:3558 semapv:UnspecifiedMatching -OMIM:147681 IL11 skos:exactMatch hgnc.symbol:IL11 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch hgnc.symbol:IL2 semapv:UnspecifiedMatching OMIM:147681 IL11 skos:exactMatch ncbigene:3589 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch hgnc.symbol:IL11 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch UMLS:C1334103 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch UMLS:C1869116 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch hgnc.symbol:IL13 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch ncbigene:3596 semapv:UnspecifiedMatching OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:FOXK2 semapv:UnspecifiedMatching @@ -3329,12 +3329,12 @@ OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:IDH1 semapv:UnspecifiedMatching OMIM:147700 IDH1 skos:exactMatch ncbigene:3417 semapv:UnspecifiedMatching OMIM:147720 IL1B skos:exactMatch hgnc.symbol:IL1B semapv:UnspecifiedMatching OMIM:147720 IL1B skos:exactMatch ncbigene:3553 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch ncbigene:3559 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C5436940 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:IL2RA semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C5436940 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch ncbigene:3559 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C1334114 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching OMIM:147740 IL3 skos:exactMatch hgnc.symbol:IL3 semapv:UnspecifiedMatching OMIM:147740 IL3 skos:exactMatch ncbigene:3562 semapv:UnspecifiedMatching OMIM:147750 ivic syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching @@ -3350,23 +3350,23 @@ OMIM:147781 IL4R skos:exactMatch hgnc.symbol:IL4R semapv:UnspecifiedMatching OMIM:147781 IL4R skos:exactMatch ncbigene:3566 semapv:UnspecifiedMatching OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:JCHAIN semapv:UnspecifiedMatching OMIM:147790 JCHAIN skos:exactMatch ncbigene:3512 semapv:UnspecifiedMatching -OMIM:147791 jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching OMIM:147791 jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching +OMIM:147791 jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch ncbigene:3716 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:JAK1 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch UMLS:C1334290 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch ncbigene:3717 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:JAK2 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C4016234 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C4016233 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C3281125 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C4016234 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C3276959 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C2675105 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C1334291 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:IL1R1 semapv:UnspecifiedMatching OMIM:147810 IL1R1 skos:exactMatch ncbigene:3554 semapv:UnspecifiedMatching OMIM:147811 IL1R2 skos:exactMatch UMLS:C1416396 semapv:UnspecifiedMatching @@ -3374,17 +3374,17 @@ OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:IL1R2 semapv:UnspecifiedMatching OMIM:147811 IL1R2 skos:exactMatch ncbigene:7850 semapv:UnspecifiedMatching OMIM:147840 ICAM1 skos:exactMatch ncbigene:3383 semapv:UnspecifiedMatching OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:ICAM1 semapv:UnspecifiedMatching -OMIM:147850 IL5 skos:exactMatch ncbigene:3567 semapv:UnspecifiedMatching OMIM:147850 IL5 skos:exactMatch hgnc.symbol:IL5 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch ncbigene:3567 semapv:UnspecifiedMatching OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:IL5RA semapv:UnspecifiedMatching OMIM:147851 IL5RA skos:exactMatch ncbigene:3568 semapv:UnspecifiedMatching OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:WNT2 semapv:UnspecifiedMatching OMIM:147870 WNT2 skos:exactMatch ncbigene:7472 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch ncbigene:3570 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch hgnc.symbol:IL6R semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch ncbigene:3570 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch UMLS:C3540094 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C1416409 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch UMLS:C3540094 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C3553493 semapv:UnspecifiedMatching OMIM:147890 MX2 skos:exactMatch hgnc.symbol:MX2 semapv:UnspecifiedMatching OMIM:147890 MX2 skos:exactMatch ncbigene:4600 semapv:UnspecifiedMatching @@ -3395,43 +3395,43 @@ OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:DIO1 semapv:UnspecifiedMatching OMIM:147892 DIO1 skos:exactMatch ncbigene:1733 semapv:UnspecifiedMatching OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:KLK1 semapv:UnspecifiedMatching OMIM:147910 KLK1 skos:exactMatch ncbigene:3816 semapv:UnspecifiedMatching -OMIM:147935 SERPINA4 skos:exactMatch ncbigene:5267 semapv:UnspecifiedMatching OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:SERPINA4 semapv:UnspecifiedMatching -OMIM:147940 IAPP skos:exactMatch hgnc.symbol:IAPP semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch ncbigene:5267 semapv:UnspecifiedMatching OMIM:147940 IAPP skos:exactMatch ncbigene:3375 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch hgnc.symbol:IAPP semapv:UnspecifiedMatching OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:KLK2 semapv:UnspecifiedMatching OMIM:147960 KLK2 skos:exactMatch ncbigene:3817 semapv:UnspecifiedMatching OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:KRT19 semapv:UnspecifiedMatching OMIM:148020 KRT19 skos:exactMatch ncbigene:3880 semapv:UnspecifiedMatching -OMIM:148021 KRTAP5-9 skos:exactMatch ncbigene:3846 semapv:UnspecifiedMatching OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:KRTAP5-9 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch ncbigene:3846 semapv:UnspecifiedMatching OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:KRTAP5-1 semapv:UnspecifiedMatching OMIM:148022 KRTAP5-1 skos:exactMatch ncbigene:387264 semapv:UnspecifiedMatching OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:KRT15 semapv:UnspecifiedMatching OMIM:148030 KRT15 skos:exactMatch ncbigene:3866 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C4016236 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C4016235 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch ncbigene:3852 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:KRT5 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C3715082 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C4016235 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C1416742 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0432316 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0080333 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0079299 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0079295 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch UMLS:C1416743 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:KRT6A semapv:UnspecifiedMatching OMIM:148041 KRT6A skos:exactMatch ncbigene:3853 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch ncbigene:3854 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:KRT6B semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch UMLS:C1416743 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching OMIM:148042 KRT6B skos:exactMatch UMLS:C1416744 semapv:UnspecifiedMatching OMIM:148042 KRT6B skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:KRT6B semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch ncbigene:3854 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch UMLS:C1416740 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:KRT3 semapv:UnspecifiedMatching @@ -3440,20 +3440,20 @@ OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:KRT7 semapv:UnspecifiedMatching OMIM:148059 KRT7 skos:exactMatch ncbigene:3855 semapv:UnspecifiedMatching OMIM:148060 KRT8 skos:exactMatch ncbigene:3856 semapv:UnspecifiedMatching OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:KRT8 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch UMLS:C1416716 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:KRT13 semapv:UnspecifiedMatching OMIM:148065 KRT13 skos:exactMatch ncbigene:3860 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:KRT13 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch UMLS:C1416716 semapv:UnspecifiedMatching OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:KRT14 semapv:UnspecifiedMatching OMIM:148066 KRT14 skos:exactMatch ncbigene:3861 semapv:UnspecifiedMatching OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:KRT16 semapv:UnspecifiedMatching OMIM:148067 KRT16 skos:exactMatch ncbigene:3868 semapv:UnspecifiedMatching -OMIM:148069 KRT17 skos:exactMatch ncbigene:3872 semapv:UnspecifiedMatching OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:KRT17 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch ncbigene:3872 semapv:UnspecifiedMatching OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:KRT18 semapv:UnspecifiedMatching OMIM:148070 KRT18 skos:exactMatch ncbigene:3875 semapv:UnspecifiedMatching -OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:KRT10 semapv:UnspecifiedMatching OMIM:148080 KRT10 skos:exactMatch ncbigene:3858 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:KRT10 semapv:UnspecifiedMatching OMIM:148180 FGF7 skos:exactMatch UMLS:C0919507 semapv:UnspecifiedMatching OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:FGF7 semapv:UnspecifiedMatching OMIM:148180 FGF7 skos:exactMatch ncbigene:2252 semapv:UnspecifiedMatching @@ -3462,8 +3462,8 @@ OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exac OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:KIF11 semapv:UnspecifiedMatching OMIM:148760 KIF11 skos:exactMatch ncbigene:3832 semapv:UnspecifiedMatching OMIM:149100 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching -OMIM:149200 bart-pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching OMIM:149200 bart-pumphrey syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching +OMIM:149200 bart-pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C1835614 semapv:UnspecifiedMatching OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C4551954 semapv:UnspecifiedMatching OMIM:149400 hyperekplexia 1 skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching @@ -3471,17 +3471,17 @@ OMIM:149750 LALBA skos:exactMatch hgnc.symbol:LALBA semapv:UnspecifiedMatching OMIM:149750 LALBA skos:exactMatch ncbigene:3906 semapv:UnspecifiedMatching OMIM:150000 LDHA skos:exactMatch hgnc.symbol:LDHA semapv:UnspecifiedMatching OMIM:150000 LDHA skos:exactMatch ncbigene:3939 semapv:UnspecifiedMatching -OMIM:150100 LDHB skos:exactMatch ncbigene:3945 semapv:UnspecifiedMatching OMIM:150100 LDHB skos:exactMatch hgnc.symbol:LDHB semapv:UnspecifiedMatching -OMIM:150150 LDHC skos:exactMatch hgnc.symbol:LDHC semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch ncbigene:3945 semapv:UnspecifiedMatching OMIM:150150 LDHC skos:exactMatch ncbigene:3948 semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch hgnc.symbol:LDHC semapv:UnspecifiedMatching OMIM:150200 CSH1 skos:exactMatch UMLS:C1413752 semapv:UnspecifiedMatching OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:CSH1 semapv:UnspecifiedMatching OMIM:150200 CSH1 skos:exactMatch ncbigene:1442 semapv:UnspecifiedMatching OMIM:150205 LPO skos:exactMatch hgnc.symbol:LPO semapv:UnspecifiedMatching OMIM:150205 LPO skos:exactMatch ncbigene:4025 semapv:UnspecifiedMatching -OMIM:150210 LTF skos:exactMatch ncbigene:4057 semapv:UnspecifiedMatching OMIM:150210 LTF skos:exactMatch hgnc.symbol:LTF semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch ncbigene:4057 semapv:UnspecifiedMatching OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:LAMB1 semapv:UnspecifiedMatching @@ -3504,26 +3504,26 @@ OMIM:150330 LMNA skos:exactMatch UMLS:C4016243 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C4016241 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1416877 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C1854154 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C1720860 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1416877 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C0410190 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching -OMIM:150340 LMNB1 skos:exactMatch ncbigene:4001 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:LMNB1 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch UMLS:C1416878 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch ncbigene:4001 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch ncbigene:84823 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch UMLS:C4225289 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:LMNB2 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch ncbigene:84823 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch UMLS:C1416878 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching OMIM:150370 RPSA skos:exactMatch hgnc.symbol:RPSA semapv:UnspecifiedMatching OMIM:150370 RPSA skos:exactMatch ncbigene:3921 semapv:UnspecifiedMatching -OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:LTBP1 semapv:UnspecifiedMatching OMIM:150390 LTBP1 skos:exactMatch ncbigene:4052 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:LTBP1 semapv:UnspecifiedMatching OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:LGALS1 semapv:UnspecifiedMatching OMIM:150570 LGALS1 skos:exactMatch ncbigene:3956 semapv:UnspecifiedMatching @@ -3532,8 +3532,8 @@ OMIM:150571 LGALS2 skos:exactMatch ncbigene:3957 semapv:UnspecifiedMatching OMIM:150699 leiomyoma, uterine skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching -OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching @@ -3570,8 +3570,8 @@ OMIM:151520 LTK skos:exactMatch hgnc.symbol:LTK semapv:UnspecifiedMatching OMIM:151520 LTK skos:exactMatch ncbigene:4058 semapv:UnspecifiedMatching OMIM:151523 CD37 skos:exactMatch hgnc.symbol:CD37 semapv:UnspecifiedMatching OMIM:151523 CD37 skos:exactMatch ncbigene:951 semapv:UnspecifiedMatching -OMIM:151525 CD53 skos:exactMatch ncbigene:963 semapv:UnspecifiedMatching OMIM:151525 CD53 skos:exactMatch hgnc.symbol:CD53 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch ncbigene:963 semapv:UnspecifiedMatching OMIM:151530 ANPEP skos:exactMatch ncbigene:290 semapv:UnspecifiedMatching OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:ANPEP semapv:UnspecifiedMatching OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:LTA4H semapv:UnspecifiedMatching @@ -3581,25 +3581,25 @@ OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch Orphanet:2 OMIM:151625 LGTN skos:exactMatch hgnc.symbol:LGTN semapv:UnspecifiedMatching OMIM:151625 LGTN skos:exactMatch ncbigene:100529141 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch hgnc.symbol:LIPC semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch ncbigene:3990 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C2675071 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C1416867 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:LCN1 semapv:UnspecifiedMatching OMIM:151675 LCN1 skos:exactMatch ncbigene:3933 semapv:UnspecifiedMatching OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:ANXA1 semapv:UnspecifiedMatching OMIM:151690 ANXA1 skos:exactMatch ncbigene:301 semapv:UnspecifiedMatching -OMIM:151740 ANXA2 skos:exactMatch ncbigene:302 semapv:UnspecifiedMatching OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:ANXA2 semapv:UnspecifiedMatching -OMIM:151750 LIPE skos:exactMatch hgnc.symbol:LIPE semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch ncbigene:302 semapv:UnspecifiedMatching OMIM:151750 LIPE skos:exactMatch ncbigene:3991 semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch hgnc.symbol:LIPE semapv:UnspecifiedMatching OMIM:151800 lipomatosis, multiple symmetric skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching OMIM:151800 lipomatosis, multiple symmetric skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching OMIM:151990 LBP skos:exactMatch hgnc.symbol:LBP semapv:UnspecifiedMatching OMIM:151990 LBP skos:exactMatch ncbigene:3929 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C5436941 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch ncbigene:4018 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C5436941 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C4016246 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch hgnc.symbol:LPA semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C1835362 semapv:UnspecifiedMatching @@ -3613,8 +3613,8 @@ OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:ALOX12 semapv:UnspecifiedMatching OMIM:152391 ALOX12 skos:exactMatch ncbigene:239 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch ncbigene:246 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:ALOX15 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch UMLS:C5193165 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch UMLS:C1332082 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch UMLS:C5193165 semapv:UnspecifiedMatching OMIM:152424 locus control region, beta skos:exactMatch ncbigene:109580095 semapv:UnspecifiedMatching OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:ACSL1 semapv:UnspecifiedMatching OMIM:152425 ACSL1 skos:exactMatch ncbigene:2180 semapv:UnspecifiedMatching @@ -3622,8 +3622,8 @@ OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:KCNH2 semapv:UnspecifiedMatching OMIM:152427 KCNH2 skos:exactMatch ncbigene:3757 semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch hgnc.symbol:LORICRIN semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch ncbigene:4014 semapv:UnspecifiedMatching -OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:XRCC6 semapv:UnspecifiedMatching OMIM:152690 XRCC6 skos:exactMatch ncbigene:2547 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:XRCC6 semapv:UnspecifiedMatching OMIM:152700 systemic lupus erythematosus skos:exactMatch UMLS:C0024141 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch UMLS:C1415169 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching @@ -3632,20 +3632,20 @@ OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:GNRH1 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch ncbigene:2796 semapv:UnspecifiedMatching OMIM:152780 LHB skos:exactMatch hgnc.symbol:LHB semapv:UnspecifiedMatching OMIM:152780 LHB skos:exactMatch ncbigene:3972 semapv:UnspecifiedMatching -OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:LHCGR semapv:UnspecifiedMatching OMIM:152790 LHCGR skos:exactMatch ncbigene:3973 semapv:UnspecifiedMatching -OMIM:153100 lymphatic malformation 1 skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:LHCGR semapv:UnspecifiedMatching OMIM:153100 lymphatic malformation 1 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching +OMIM:153100 lymphatic malformation 1 skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching OMIM:153240 SELL skos:exactMatch hgnc.symbol:SELL semapv:UnspecifiedMatching OMIM:153240 SELL skos:exactMatch ncbigene:6402 semapv:UnspecifiedMatching OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:TNFRSF8 semapv:UnspecifiedMatching OMIM:153243 TNFRSF8 skos:exactMatch ncbigene:943 semapv:UnspecifiedMatching OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:LEF1 semapv:UnspecifiedMatching OMIM:153245 LEF1 skos:exactMatch ncbigene:51176 semapv:UnspecifiedMatching -OMIM:153310 CLC skos:exactMatch hgnc.symbol:CLC semapv:UnspecifiedMatching OMIM:153310 CLC skos:exactMatch ncbigene:1178 semapv:UnspecifiedMatching -OMIM:153330 LAMP1 skos:exactMatch ncbigene:3916 semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch hgnc.symbol:CLC semapv:UnspecifiedMatching OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:LAMP1 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch ncbigene:3916 semapv:UnspecifiedMatching OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:LAG3 semapv:UnspecifiedMatching OMIM:153337 LAG3 skos:exactMatch ncbigene:3902 semapv:UnspecifiedMatching OMIM:153340 CD5 skos:exactMatch hgnc.symbol:CD5 semapv:UnspecifiedMatching @@ -3655,47 +3655,47 @@ OMIM:153370 ITGAL skos:exactMatch ncbigene:3683 semapv:UnspecifiedMatching OMIM:153380 lymphocyte cytosol polypeptide, 20-kd skos:exactMatch ncbigene:7938 semapv:UnspecifiedMatching OMIM:153390 LCK skos:exactMatch ncbigene:3932 semapv:UnspecifiedMatching OMIM:153390 LCK skos:exactMatch hgnc.symbol:LCK semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch ncbigene:965 semapv:UnspecifiedMatching OMIM:153420 CD58 skos:exactMatch UMLS:C1332715 semapv:UnspecifiedMatching OMIM:153420 CD58 skos:exactMatch hgnc.symbol:CD58 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch ncbigene:965 semapv:UnspecifiedMatching OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:LCP1 semapv:UnspecifiedMatching OMIM:153430 LCP1 skos:exactMatch ncbigene:3936 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch UMLS:C1416925 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:LSP1 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching OMIM:153435 LAKL skos:exactMatch ncbigene:3905 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch hgnc.symbol:LTA semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch ncbigene:4049 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch UMLS:C2750103 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C0812308 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C1835223 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch UMLS:C2750103 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch hgnc.symbol:LTA semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch ncbigene:4049 semapv:UnspecifiedMatching OMIM:153450 LYZ skos:exactMatch hgnc.symbol:LYZ semapv:UnspecifiedMatching OMIM:153450 LYZ skos:exactMatch ncbigene:4069 semapv:UnspecifiedMatching -OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:PLOD1 semapv:UnspecifiedMatching OMIM:153454 PLOD1 skos:exactMatch ncbigene:5351 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch hgnc.symbol:LOX semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch ncbigene:4015 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:PLOD1 semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch UMLS:C1334349 semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch UMLS:C4016254 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch hgnc.symbol:LOX semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch ncbigene:4015 semapv:UnspecifiedMatching OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:LOXL1 semapv:UnspecifiedMatching OMIM:153456 LOXL1 skos:exactMatch ncbigene:4016 semapv:UnspecifiedMatching -OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching -OMIM:153615 CAPG skos:exactMatch hgnc.symbol:CAPG semapv:UnspecifiedMatching +OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching OMIM:153615 CAPG skos:exactMatch ncbigene:822 semapv:UnspecifiedMatching -OMIM:153618 MRC1 skos:exactMatch ncbigene:4360 semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch hgnc.symbol:CAPG semapv:UnspecifiedMatching OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:MRC1 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch ncbigene:3958 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch ncbigene:4360 semapv:UnspecifiedMatching OMIM:153619 LGALS3 skos:exactMatch UMLS:C1416831 semapv:UnspecifiedMatching OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:LGALS3 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch ncbigene:3958 semapv:UnspecifiedMatching OMIM:153620 MIF skos:exactMatch hgnc.symbol:MIF semapv:UnspecifiedMatching OMIM:153620 MIF skos:exactMatch ncbigene:4282 semapv:UnspecifiedMatching OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:MSR1 semapv:UnspecifiedMatching OMIM:153622 MSR1 skos:exactMatch ncbigene:4481 semapv:UnspecifiedMatching -OMIM:153634 CD68 skos:exactMatch hgnc.symbol:CD68 semapv:UnspecifiedMatching OMIM:153634 CD68 skos:exactMatch ncbigene:968 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch hgnc.symbol:CD68 semapv:UnspecifiedMatching OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:YBX1 semapv:UnspecifiedMatching OMIM:154030 YBX1 skos:exactMatch ncbigene:4904 semapv:UnspecifiedMatching @@ -3703,10 +3703,10 @@ OMIM:154040 NELFE skos:exactMatch hgnc.symbol:NELFE semapv:UnspecifiedMatching OMIM:154040 NELFE skos:exactMatch ncbigene:7936 semapv:UnspecifiedMatching OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:LIM2 semapv:UnspecifiedMatching OMIM:154045 LIM2 skos:exactMatch ncbigene:3982 semapv:UnspecifiedMatching -OMIM:154050 MIP skos:exactMatch ncbigene:4284 semapv:UnspecifiedMatching OMIM:154050 MIP skos:exactMatch hgnc.symbol:MIP semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:MDH2 semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch ncbigene:4284 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch ncbigene:4191 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:MDH2 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch UMLS:C1417088 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching OMIM:154200 MDH1 skos:exactMatch UMLS:C1417087 semapv:UnspecifiedMatching @@ -3715,10 +3715,10 @@ OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:MDH1 semapv:UnspecifiedMatching OMIM:154200 MDH1 skos:exactMatch ncbigene:4190 semapv:UnspecifiedMatching OMIM:154235 MAK skos:exactMatch hgnc.symbol:MAK semapv:UnspecifiedMatching OMIM:154235 MAK skos:exactMatch ncbigene:4117 semapv:UnspecifiedMatching -OMIM:154250 ME1 skos:exactMatch ncbigene:4199 semapv:UnspecifiedMatching OMIM:154250 ME1 skos:exactMatch hgnc.symbol:ME1 semapv:UnspecifiedMatching -OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch ncbigene:4199 semapv:UnspecifiedMatching OMIM:154270 ME2 skos:exactMatch hgnc.symbol:ME2 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching OMIM:154280 SAI1 skos:exactMatch ncbigene:6298 semapv:UnspecifiedMatching OMIM:154360 MGAM skos:exactMatch hgnc.symbol:MGAM semapv:UnspecifiedMatching OMIM:154360 MGAM skos:exactMatch ncbigene:8972 semapv:UnspecifiedMatching @@ -3744,122 +3744,122 @@ OMIM:154870 MGP skos:exactMatch hgnc.symbol:MGP semapv:UnspecifiedMatching OMIM:154870 MGP skos:exactMatch ncbigene:4256 semapv:UnspecifiedMatching OMIM:154950 MAX skos:exactMatch hgnc.symbol:MAX semapv:UnspecifiedMatching OMIM:154950 MAX skos:exactMatch ncbigene:4149 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1854520 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:850 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1854520 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0398641 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0340978 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching -OMIM:155120 ADAM11 skos:exactMatch ncbigene:4185 semapv:UnspecifiedMatching OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:ADAM11 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch ncbigene:4185 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching OMIM:155540 MC3R skos:exactMatch hgnc.symbol:MC3R semapv:UnspecifiedMatching OMIM:155540 MC3R skos:exactMatch ncbigene:4159 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch ncbigene:4160 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch hgnc.symbol:MC4R semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch UMLS:C5193167 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C1417064 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C5193151 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C5193166 semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch hgnc.symbol:PMEL semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch UMLS:C1420066 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch UMLS:C5193167 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch hgnc.symbol:MC4R semapv:UnspecifiedMatching OMIM:155550 PMEL skos:exactMatch ncbigene:6490 semapv:UnspecifiedMatching -OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch UMLS:C1420066 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch hgnc.symbol:PMEL semapv:UnspecifiedMatching OMIM:155555 MC1R skos:exactMatch hgnc.symbol:MC1R semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:CXCL1 semapv:UnspecifiedMatching OMIM:155730 CXCL1 skos:exactMatch ncbigene:2919 semapv:UnspecifiedMatching OMIM:155735 MCAM skos:exactMatch hgnc.symbol:MCAM semapv:UnspecifiedMatching OMIM:155735 MCAM skos:exactMatch ncbigene:4162 semapv:UnspecifiedMatching -OMIM:155740 CD63 skos:exactMatch hgnc.symbol:CD63 semapv:UnspecifiedMatching OMIM:155740 CD63 skos:exactMatch ncbigene:967 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch hgnc.symbol:CD63 semapv:UnspecifiedMatching OMIM:155750 MELTF skos:exactMatch hgnc.symbol:MELTF semapv:UnspecifiedMatching OMIM:155750 MELTF skos:exactMatch ncbigene:4241 semapv:UnspecifiedMatching OMIM:155760 ACAN skos:exactMatch hgnc.symbol:ACAN semapv:UnspecifiedMatching OMIM:155760 ACAN skos:exactMatch ncbigene:176 semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching -OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:CD200 semapv:UnspecifiedMatching OMIM:155970 MOX2 skos:exactMatch ncbigene:4345 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch hgnc.symbol:MN1 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:CD200 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch ncbigene:4330 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch hgnc.symbol:MN1 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch UMLS:C1417217 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching -OMIM:156225 LAMA2 skos:exactMatch ncbigene:3908 semapv:UnspecifiedMatching OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:LAMA2 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch ncbigene:3908 semapv:UnspecifiedMatching OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch UMLS:C1835007 semapv:UnspecifiedMatching OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching OMIM:156349 MT1B skos:exactMatch hgnc.symbol:MT1B semapv:UnspecifiedMatching OMIM:156349 MT1B skos:exactMatch ncbigene:4490 semapv:UnspecifiedMatching -OMIM:156350 MT1A skos:exactMatch hgnc.symbol:MT1A semapv:UnspecifiedMatching OMIM:156350 MT1A skos:exactMatch ncbigene:4489 semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch hgnc.symbol:MT1A semapv:UnspecifiedMatching OMIM:156351 MT1E skos:exactMatch hgnc.symbol:MT1E semapv:UnspecifiedMatching OMIM:156351 MT1E skos:exactMatch ncbigene:4493 semapv:UnspecifiedMatching OMIM:156352 MT1F skos:exactMatch hgnc.symbol:MT1F semapv:UnspecifiedMatching OMIM:156352 MT1F skos:exactMatch ncbigene:4494 semapv:UnspecifiedMatching -OMIM:156353 MT1G skos:exactMatch ncbigene:4495 semapv:UnspecifiedMatching OMIM:156353 MT1G skos:exactMatch hgnc.symbol:MT1G semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch ncbigene:4495 semapv:UnspecifiedMatching OMIM:156354 MT1H skos:exactMatch hgnc.symbol:MT1H semapv:UnspecifiedMatching OMIM:156354 MT1H skos:exactMatch ncbigene:4496 semapv:UnspecifiedMatching OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:MT1IP semapv:UnspecifiedMatching OMIM:156355 MT1IP skos:exactMatch ncbigene:644314 semapv:UnspecifiedMatching -OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:MT1JP semapv:UnspecifiedMatching OMIM:156356 MT1JP skos:exactMatch ncbigene:4498 semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:MT1JP semapv:UnspecifiedMatching OMIM:156357 MT1K skos:exactMatch hgnc.symbol:MT1M semapv:UnspecifiedMatching OMIM:156357 MT1K skos:exactMatch ncbigene:4499 semapv:UnspecifiedMatching -OMIM:156358 MT1LP skos:exactMatch ncbigene:4500 semapv:UnspecifiedMatching OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:MT1L semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch ncbigene:4500 semapv:UnspecifiedMatching OMIM:156359 MT1X skos:exactMatch hgnc.symbol:MT1X semapv:UnspecifiedMatching OMIM:156359 MT1X skos:exactMatch ncbigene:4501 semapv:UnspecifiedMatching -OMIM:156360 MT2A skos:exactMatch hgnc.symbol:MT2A semapv:UnspecifiedMatching OMIM:156360 MT2A skos:exactMatch ncbigene:4502 semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch hgnc.symbol:MT2A semapv:UnspecifiedMatching OMIM:156490 NME1 skos:exactMatch hgnc.symbol:NME1 semapv:UnspecifiedMatching OMIM:156490 NME1 skos:exactMatch ncbigene:4830 semapv:UnspecifiedMatching OMIM:156491 NME2 skos:exactMatch hgnc.symbol:NME2 semapv:UnspecifiedMatching OMIM:156491 NME2 skos:exactMatch ncbigene:4831 semapv:UnspecifiedMatching -OMIM:156535 MBD1 skos:exactMatch ncbigene:4152 semapv:UnspecifiedMatching OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:MBD1 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch ncbigene:4152 semapv:UnspecifiedMatching OMIM:156540 MTAP skos:exactMatch hgnc.symbol:MTAP semapv:UnspecifiedMatching OMIM:156540 MTAP skos:exactMatch ncbigene:4507 semapv:UnspecifiedMatching -OMIM:156550 kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching OMIM:156550 kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching +OMIM:156550 kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:MARS1 semapv:UnspecifiedMatching OMIM:156560 MARS1 skos:exactMatch ncbigene:4141 semapv:UnspecifiedMatching -OMIM:156565 MPG skos:exactMatch ncbigene:4350 semapv:UnspecifiedMatching OMIM:156565 MPG skos:exactMatch hgnc.symbol:MPG semapv:UnspecifiedMatching -OMIM:156569 MGMT skos:exactMatch ncbigene:4255 semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch ncbigene:4350 semapv:UnspecifiedMatching OMIM:156569 MGMT skos:exactMatch hgnc.symbol:MGMT semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch ncbigene:4255 semapv:UnspecifiedMatching OMIM:156570 MTR skos:exactMatch hgnc.symbol:MTR semapv:UnspecifiedMatching OMIM:156570 MTR skos:exactMatch ncbigene:4548 semapv:UnspecifiedMatching OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:MFAP2 semapv:UnspecifiedMatching OMIM:156790 MFAP2 skos:exactMatch ncbigene:4237 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C1417172 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C4310625 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch hgnc.symbol:MITF semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch ncbigene:4286 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch ncbigene:4131 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C1417172 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:MAP1B semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch ncbigene:4131 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C1417004 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching -OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:MAP2 semapv:UnspecifiedMatching OMIM:157130 MAP2 skos:exactMatch ncbigene:4133 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:MAP2 semapv:UnspecifiedMatching OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:MAP4 semapv:UnspecifiedMatching OMIM:157132 MAP4 skos:exactMatch ncbigene:4134 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch ncbigene:4137 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch hgnc.symbol:MAPT semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch hgnc.symbol:MAPT semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C1446659 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching OMIM:157145 MSMB skos:exactMatch hgnc.symbol:MSMB semapv:UnspecifiedMatching OMIM:157145 MSMB skos:exactMatch ncbigene:4477 semapv:UnspecifiedMatching @@ -3869,72 +3869,71 @@ OMIM:157560 minisatellite 33.6 skos:exactMatch UMLS:C1834872 semapv:UnspecifiedM OMIM:157570 minisatellite 33.15 skos:exactMatch UMLS:C1834871 semapv:UnspecifiedMatching OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch UMLS:C1834846 semapv:UnspecifiedMatching OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:NDUFS1 semapv:UnspecifiedMatching OMIM:157655 NDUFS1 skos:exactMatch ncbigene:4719 semapv:UnspecifiedMatching -OMIM:157660 RMRP skos:exactMatch ncbigene:6023 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:NDUFS1 semapv:UnspecifiedMatching OMIM:157660 RMRP skos:exactMatch hgnc.symbol:RMRP semapv:UnspecifiedMatching -OMIM:157680 CDC25C skos:exactMatch ncbigene:995 semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch ncbigene:6023 semapv:UnspecifiedMatching OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:CDC25C semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch ncbigene:995 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching -OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching +OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:PSMD7 semapv:UnspecifiedMatching OMIM:157970 PSMD7 skos:exactMatch ncbigene:5713 semapv:UnspecifiedMatching -OMIM:158070 SLC3A2 skos:exactMatch ncbigene:6520 semapv:UnspecifiedMatching OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:SLC3A2 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch ncbigene:6520 semapv:UnspecifiedMatching OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:CCL2 semapv:UnspecifiedMatching OMIM:158105 CCL2 skos:exactMatch ncbigene:6347 semapv:UnspecifiedMatching OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:CCL7 semapv:UnspecifiedMatching OMIM:158106 CCL7 skos:exactMatch ncbigene:6354 semapv:UnspecifiedMatching -OMIM:158120 CD14 skos:exactMatch hgnc.symbol:CD14 semapv:UnspecifiedMatching OMIM:158120 CD14 skos:exactMatch ncbigene:929 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch hgnc.symbol:CD14 semapv:UnspecifiedMatching OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch UMLS:C0795830 semapv:UnspecifiedMatching OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching -OMIM:158270 MLN skos:exactMatch ncbigene:4295 semapv:UnspecifiedMatching OMIM:158270 MLN skos:exactMatch hgnc.symbol:MLN semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch ncbigene:4295 semapv:UnspecifiedMatching OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:MUC1 semapv:UnspecifiedMatching OMIM:158340 MUC1 skos:exactMatch ncbigene:4582 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch ncbigene:4363 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:ABCC1 semapv:UnspecifiedMatching OMIM:158343 ABCC1 skos:exactMatch UMLS:C0919458 semapv:UnspecifiedMatching OMIM:158343 ABCC1 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:ABCC1 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch ncbigene:4363 semapv:UnspecifiedMatching -OMIM:158370 MUC2 skos:exactMatch ncbigene:4583 semapv:UnspecifiedMatching OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:MUC2 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch ncbigene:4583 semapv:UnspecifiedMatching OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:MUC3A semapv:UnspecifiedMatching OMIM:158371 MUC3A skos:exactMatch ncbigene:4584 semapv:UnspecifiedMatching -OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:MUC4 semapv:UnspecifiedMatching OMIM:158372 MUC4 skos:exactMatch ncbigene:4585 semapv:UnspecifiedMatching -OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:MUC5AC semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:MUC4 semapv:UnspecifiedMatching OMIM:158373 MUC5AC skos:exactMatch ncbigene:4586 semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:MUC5AC semapv:UnspecifiedMatching OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:MUC6 semapv:UnspecifiedMatching OMIM:158374 MUC6 skos:exactMatch ncbigene:4588 semapv:UnspecifiedMatching -OMIM:158375 MUC7 skos:exactMatch ncbigene:4589 semapv:UnspecifiedMatching OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:MUC7 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch ncbigene:4589 semapv:UnspecifiedMatching OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:SLC20A2 semapv:UnspecifiedMatching OMIM:158378 SLC20A2 skos:exactMatch ncbigene:6575 semapv:UnspecifiedMatching OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:EVI2A semapv:UnspecifiedMatching OMIM:158380 EVI2A skos:exactMatch ncbigene:2123 semapv:UnspecifiedMatching -OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:EVI2B semapv:UnspecifiedMatching OMIM:158381 EVI2B skos:exactMatch ncbigene:2124 semapv:UnspecifiedMatching -OMIM:159350 MCC skos:exactMatch ncbigene:4163 semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:EVI2B semapv:UnspecifiedMatching OMIM:159350 MCC skos:exactMatch hgnc.symbol:MCC semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch ncbigene:4163 semapv:UnspecifiedMatching OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:MYBL1 semapv:UnspecifiedMatching OMIM:159405 MYBL1 skos:exactMatch ncbigene:4603 semapv:UnspecifiedMatching OMIM:159430 MBP skos:exactMatch hgnc.symbol:MBP semapv:UnspecifiedMatching OMIM:159430 MBP skos:exactMatch ncbigene:4155 semapv:UnspecifiedMatching OMIM:159440 MPZ skos:exactMatch hgnc.symbol:MPZ semapv:UnspecifiedMatching OMIM:159440 MPZ skos:exactMatch ncbigene:4359 semapv:UnspecifiedMatching -OMIM:159460 MAG skos:exactMatch hgnc.symbol:MAG semapv:UnspecifiedMatching OMIM:159460 MAG skos:exactMatch ncbigene:4099 semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch hgnc.symbol:MAG semapv:UnspecifiedMatching OMIM:159465 MOG skos:exactMatch ncbigene:4340 semapv:UnspecifiedMatching OMIM:159465 MOG skos:exactMatch hgnc.symbol:MOG semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch ncbigene:4352 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C0812295 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C1327915 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching @@ -3942,6 +3941,7 @@ OMIM:159530 MPL skos:exactMatch UMLS:C3277190 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C4016267 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C4016268 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch hgnc.symbol:MPL semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch ncbigene:4352 semapv:UnspecifiedMatching OMIM:159540 LIF skos:exactMatch ncbigene:3976 semapv:UnspecifiedMatching OMIM:159540 LIF skos:exactMatch hgnc.symbol:LIF semapv:UnspecifiedMatching OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching @@ -3950,8 +3950,8 @@ OMIM:159552 MCL1 skos:exactMatch UMLS:C1366587 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch UMLS:C1834590 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:MCL1 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch ncbigene:4170 semapv:UnspecifiedMatching -OMIM:159553 MNDA skos:exactMatch ncbigene:4332 semapv:UnspecifiedMatching OMIM:159553 MNDA skos:exactMatch hgnc.symbol:MNDA semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch ncbigene:4332 semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch ncbigene:4297 semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:KMT2A semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch UMLS:C0919528 semapv:UnspecifiedMatching @@ -3961,69 +3961,69 @@ OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:MLLT1 semapv:UnspecifiedMatching OMIM:159556 MLLT1 skos:exactMatch ncbigene:4298 semapv:UnspecifiedMatching OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:AFF1 semapv:UnspecifiedMatching OMIM:159557 AFF1 skos:exactMatch ncbigene:4299 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:MLLT3 semapv:UnspecifiedMatching OMIM:159558 MLLT3 skos:exactMatch UMLS:C1334515 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:MLLT3 semapv:UnspecifiedMatching OMIM:159558 MLLT3 skos:exactMatch ncbigene:4300 semapv:UnspecifiedMatching OMIM:159559 AFDN skos:exactMatch hgnc.symbol:AFDN semapv:UnspecifiedMatching OMIM:159559 AFDN skos:exactMatch ncbigene:4301 semapv:UnspecifiedMatching OMIM:159590 CD33 skos:exactMatch hgnc.symbol:CD33 semapv:UnspecifiedMatching OMIM:159590 CD33 skos:exactMatch ncbigene:945 semapv:UnspecifiedMatching -OMIM:159900 dystonia 11, myoclonic skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching OMIM:159900 dystonia 11, myoclonic skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch ncbigene:4654 semapv:UnspecifiedMatching +OMIM:159900 dystonia 11, myoclonic skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:MYOD1 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch ncbigene:4654 semapv:UnspecifiedMatching OMIM:159970 MYOD1 skos:exactMatch UMLS:C1417574 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching OMIM:159980 MYOG skos:exactMatch hgnc.symbol:MYOG semapv:UnspecifiedMatching OMIM:159980 MYOG skos:exactMatch ncbigene:4656 semapv:UnspecifiedMatching OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:MYF5 semapv:UnspecifiedMatching OMIM:159990 MYF5 skos:exactMatch ncbigene:4617 semapv:UnspecifiedMatching OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:MYF6 semapv:UnspecifiedMatching OMIM:159991 MYF6 skos:exactMatch ncbigene:4618 semapv:UnspecifiedMatching -OMIM:160000 MB skos:exactMatch hgnc.symbol:MB semapv:UnspecifiedMatching OMIM:160000 MB skos:exactMatch ncbigene:4151 semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch hgnc.symbol:MB semapv:UnspecifiedMatching OMIM:160120 episodic ataxia, iia 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching OMIM:160700 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch ncbigene:4624 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C4016269 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C3279791 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:MYH6 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C1417541 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch ncbigene:4624 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:MYH3 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch ncbigene:4621 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C1417538 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C5193098 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C1417538 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching -OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:MYH1 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:MYH3 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch ncbigene:4621 semapv:UnspecifiedMatching OMIM:160730 MYH1 skos:exactMatch ncbigene:4619 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:MYH1 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch UMLS:C1417537 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:MYH2 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch ncbigene:4620 semapv:UnspecifiedMatching OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:MYH8 semapv:UnspecifiedMatching OMIM:160741 MYH8 skos:exactMatch ncbigene:4626 semapv:UnspecifiedMatching -OMIM:160742 MYH4 skos:exactMatch ncbigene:4622 semapv:UnspecifiedMatching OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:MYH4 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch ncbigene:4622 semapv:UnspecifiedMatching OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:MYH11 semapv:UnspecifiedMatching OMIM:160745 MYH11 skos:exactMatch ncbigene:4629 semapv:UnspecifiedMatching -OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:MYH7 semapv:UnspecifiedMatching OMIM:160760 MYH7 skos:exactMatch ncbigene:4625 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:MYH7 semapv:UnspecifiedMatching OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:MYL4 semapv:UnspecifiedMatching OMIM:160770 MYL4 skos:exactMatch ncbigene:4635 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch ncbigene:4627 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:MYH9 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C5200934 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C4693970 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C1417544 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch ncbigene:4627 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C4693968 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C1863659 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C1417544 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C4693969 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch UMLS:C1417535 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching @@ -4031,39 +4031,39 @@ OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:MYH10 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch ncbigene:4628 semapv:UnspecifiedMatching OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:MYO5A semapv:UnspecifiedMatching OMIM:160777 MYO5A skos:exactMatch ncbigene:4644 semapv:UnspecifiedMatching -OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:MYL1 semapv:UnspecifiedMatching OMIM:160780 MYL1 skos:exactMatch ncbigene:4632 semapv:UnspecifiedMatching -OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:MYL2 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:MYL1 semapv:UnspecifiedMatching OMIM:160781 MYL2 skos:exactMatch ncbigene:4633 semapv:UnspecifiedMatching -OMIM:160782 MYL5 skos:exactMatch ncbigene:4636 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:MYL2 semapv:UnspecifiedMatching OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:MYL5 semapv:UnspecifiedMatching -OMIM:160790 MYL3 skos:exactMatch ncbigene:4634 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch ncbigene:4636 semapv:UnspecifiedMatching OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:MYL3 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch ncbigene:4634 semapv:UnspecifiedMatching OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:MYBPC2 semapv:UnspecifiedMatching OMIM:160793 MYBPC2 skos:exactMatch ncbigene:4606 semapv:UnspecifiedMatching OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:MYBPC1 semapv:UnspecifiedMatching OMIM:160794 MYBPC1 skos:exactMatch ncbigene:4604 semapv:UnspecifiedMatching -OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:MYBPH semapv:UnspecifiedMatching OMIM:160795 MYBPH skos:exactMatch ncbigene:4608 semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:MYBPH semapv:UnspecifiedMatching OMIM:160900 myotonic dystrophy 1 skos:exactMatch UMLS:C3250443 semapv:UnspecifiedMatching OMIM:160900 myotonic dystrophy 1 skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching -OMIM:160993 NMT1 skos:exactMatch ncbigene:4836 semapv:UnspecifiedMatching OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:NMT1 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch ncbigene:4836 semapv:UnspecifiedMatching OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:HNRNPM semapv:UnspecifiedMatching OMIM:160994 HNRNPM skos:exactMatch ncbigene:4670 semapv:UnspecifiedMatching OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:MGAT1 semapv:UnspecifiedMatching OMIM:160995 MGAT1 skos:exactMatch ncbigene:4245 semapv:UnspecifiedMatching -OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:NQO2 semapv:UnspecifiedMatching OMIM:160998 NQO2 skos:exactMatch ncbigene:4835 semapv:UnspecifiedMatching -OMIM:161015 NDUFV1 skos:exactMatch ncbigene:4723 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:NQO2 semapv:UnspecifiedMatching OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:NDUFV1 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch ncbigene:4723 semapv:UnspecifiedMatching OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching OMIM:161200 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching OMIM:161200 nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching -OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching OMIM:161555 KLRC1 skos:exactMatch ncbigene:3821 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching OMIM:161560 IL12A skos:exactMatch UMLS:C1334101 semapv:UnspecifiedMatching OMIM:161560 IL12A skos:exactMatch hgnc.symbol:IL12A semapv:UnspecifiedMatching OMIM:161560 IL12A skos:exactMatch ncbigene:3592 semapv:UnspecifiedMatching @@ -4073,20 +4073,20 @@ OMIM:161565 NKTR skos:exactMatch hgnc.symbol:NKTR semapv:UnspecifiedMatching OMIM:161565 NKTR skos:exactMatch ncbigene:4820 semapv:UnspecifiedMatching OMIM:161650 NEB skos:exactMatch hgnc.symbol:NEB semapv:UnspecifiedMatching OMIM:161650 NEB skos:exactMatch ncbigene:4703 semapv:UnspecifiedMatching -OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching OMIM:162010 NGFR skos:exactMatch ncbigene:4804 semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching OMIM:162030 NGF skos:exactMatch hgnc.symbol:NGF semapv:UnspecifiedMatching OMIM:162030 NGF skos:exactMatch ncbigene:4803 semapv:UnspecifiedMatching -OMIM:162060 GAP43 skos:exactMatch ncbigene:2596 semapv:UnspecifiedMatching OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:GAP43 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch ncbigene:2596 semapv:UnspecifiedMatching OMIM:162080 NRL skos:exactMatch hgnc.symbol:NRL semapv:UnspecifiedMatching OMIM:162080 NRL skos:exactMatch ncbigene:4901 semapv:UnspecifiedMatching OMIM:162095 PTN skos:exactMatch hgnc.symbol:PTN semapv:UnspecifiedMatching OMIM:162095 PTN skos:exactMatch ncbigene:5764 semapv:UnspecifiedMatching -OMIM:162096 MDK skos:exactMatch hgnc.symbol:MDK semapv:UnspecifiedMatching OMIM:162096 MDK skos:exactMatch ncbigene:4192 semapv:UnspecifiedMatching -OMIM:162150 PCSK1 skos:exactMatch ncbigene:5122 semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch hgnc.symbol:MDK semapv:UnspecifiedMatching OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:PCSK1 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch ncbigene:5122 semapv:UnspecifiedMatching OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:PCSK2 semapv:UnspecifiedMatching OMIM:162151 PCSK2 skos:exactMatch ncbigene:5126 semapv:UnspecifiedMatching OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching @@ -4094,18 +4094,18 @@ OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:363700 semapv:Uns OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching OMIM:162230 NEFH skos:exactMatch hgnc.symbol:NEFH semapv:UnspecifiedMatching OMIM:162230 NEFH skos:exactMatch ncbigene:4744 semapv:UnspecifiedMatching -OMIM:162250 NEFM skos:exactMatch hgnc.symbol:NEFM semapv:UnspecifiedMatching OMIM:162250 NEFM skos:exactMatch ncbigene:4741 semapv:UnspecifiedMatching -OMIM:162280 NEFL skos:exactMatch ncbigene:4747 semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch hgnc.symbol:NEFM semapv:UnspecifiedMatching OMIM:162280 NEFL skos:exactMatch hgnc.symbol:NEFL semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch ncbigene:4747 semapv:UnspecifiedMatching OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:TAC1 semapv:UnspecifiedMatching OMIM:162320 TAC1 skos:exactMatch ncbigene:6863 semapv:UnspecifiedMatching OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:TACR2 semapv:UnspecifiedMatching OMIM:162321 TACR2 skos:exactMatch ncbigene:6865 semapv:UnspecifiedMatching OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:TACR1 semapv:UnspecifiedMatching OMIM:162323 TACR1 skos:exactMatch ncbigene:6869 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:TAC3 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch ncbigene:6866 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:TAC3 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C3553843 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C1420564 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C4016274 semapv:UnspecifiedMatching @@ -4113,12 +4113,12 @@ OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:TACR3 semapv:UnspecifiedMatching OMIM:162332 TACR3 skos:exactMatch ncbigene:6870 semapv:UnspecifiedMatching OMIM:162340 NMB skos:exactMatch hgnc.symbol:NMB semapv:UnspecifiedMatching OMIM:162340 NMB skos:exactMatch ncbigene:4828 semapv:UnspecifiedMatching -OMIM:162341 NMBR skos:exactMatch hgnc.symbol:NMBR semapv:UnspecifiedMatching OMIM:162341 NMBR skos:exactMatch ncbigene:4829 semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch hgnc.symbol:NMBR semapv:UnspecifiedMatching OMIM:162360 NHLH1 skos:exactMatch ncbigene:4807 semapv:UnspecifiedMatching OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:NHLH1 semapv:UnspecifiedMatching -OMIM:162361 NHLH2 skos:exactMatch ncbigene:4808 semapv:UnspecifiedMatching OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:NHLH2 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch ncbigene:4808 semapv:UnspecifiedMatching OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C0020071 semapv:UnspecifiedMatching OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching @@ -4126,19 +4126,19 @@ OMIM:162640 NPY skos:exactMatch hgnc.symbol:NPY semapv:UnspecifiedMatching OMIM:162640 NPY skos:exactMatch ncbigene:4852 semapv:UnspecifiedMatching OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:NPY1R semapv:UnspecifiedMatching OMIM:162641 NPY1R skos:exactMatch ncbigene:4886 semapv:UnspecifiedMatching -OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:NPY2R semapv:UnspecifiedMatching OMIM:162642 NPY2R skos:exactMatch ncbigene:4887 semapv:UnspecifiedMatching -OMIM:162643 CXCR4 skos:exactMatch ncbigene:7852 semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:NPY2R semapv:UnspecifiedMatching OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:CXCR4 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch ncbigene:7852 semapv:UnspecifiedMatching OMIM:162650 NTS skos:exactMatch hgnc.symbol:NTS semapv:UnspecifiedMatching OMIM:162650 NTS skos:exactMatch ncbigene:4922 semapv:UnspecifiedMatching OMIM:162651 NTSR1 skos:exactMatch UMLS:C1417870 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:NTSR1 semapv:UnspecifiedMatching OMIM:162651 NTSR1 skos:exactMatch ncbigene:4923 semapv:UnspecifiedMatching -OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:NTF3 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:NTSR1 semapv:UnspecifiedMatching OMIM:162660 NTF3 skos:exactMatch ncbigene:4908 semapv:UnspecifiedMatching -OMIM:162662 NTF4 skos:exactMatch ncbigene:4909 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:NTF3 semapv:UnspecifiedMatching OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:NTF4 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch ncbigene:4909 semapv:UnspecifiedMatching OMIM:162815 NAZC skos:exactMatch hgnc.symbol:AZU1 semapv:UnspecifiedMatching OMIM:162815 NAZC skos:exactMatch ncbigene:566 semapv:UnspecifiedMatching OMIM:162860 CD177 skos:exactMatch hgnc.symbol:CD177 semapv:UnspecifiedMatching @@ -4147,19 +4147,19 @@ OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch UMLS:C45520 OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:NFE2L1 semapv:UnspecifiedMatching OMIM:163260 NFE2L1 skos:exactMatch ncbigene:4779 semapv:UnspecifiedMatching -OMIM:163729 NOS3 skos:exactMatch ncbigene:4846 semapv:UnspecifiedMatching OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:NOS3 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C1417760 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch ncbigene:4846 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:NOS2 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch ncbigene:4843 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C1417760 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:NOS1 semapv:UnspecifiedMatching OMIM:163731 NOS1 skos:exactMatch ncbigene:4842 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch hgnc.symbol:SNCA semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch ncbigene:6622 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch hgnc.symbol:SNCA semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C1420276 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching @@ -4171,144 +4171,144 @@ OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:HMGN2 semapv:UnspecifiedMatching OMIM:163910 HMGN2 skos:exactMatch ncbigene:3151 semapv:UnspecifiedMatching OMIM:163920 HMGN1 skos:exactMatch ncbigene:3150 semapv:UnspecifiedMatching OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:HMGN1 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0041409 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C1527404 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0041409 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:SLC6A2 semapv:UnspecifiedMatching OMIM:163970 SLC6A2 skos:exactMatch ncbigene:6530 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:SLC6A2 semapv:UnspecifiedMatching OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:CEACAM6 semapv:UnspecifiedMatching OMIM:163980 CEACAM6 skos:exactMatch ncbigene:4680 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch ncbigene:4784 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch hgnc.symbol:NFIX semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C1417707 semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch UMLS:C1334877 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:NFKBIA semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch hgnc.symbol:NFIX semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch ncbigene:4784 semapv:UnspecifiedMatching OMIM:164008 NFKBIA skos:exactMatch ncbigene:4792 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:NFKBIA semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch UMLS:C1334877 semapv:UnspecifiedMatching OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:NUMA1 semapv:UnspecifiedMatching OMIM:164009 NUMA1 skos:exactMatch ncbigene:4926 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch ncbigene:5119 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:CHMP1A semapv:UnspecifiedMatching OMIM:164010 CHMP1A skos:exactMatch UMLS:C1418385 semapv:UnspecifiedMatching OMIM:164010 CHMP1A skos:exactMatch UMLS:C3554209 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:CHMP1A semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch ncbigene:5119 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch ncbigene:4790 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:NFKB1 semapv:UnspecifiedMatching OMIM:164011 NFKB1 skos:exactMatch UMLS:C1417708 semapv:UnspecifiedMatching OMIM:164011 NFKB1 skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:NFKB1 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch ncbigene:4790 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch ncbigene:4791 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:NFKB2 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching OMIM:164012 NFKB2 skos:exactMatch UMLS:C0812286 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:NFKB2 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch ncbigene:4791 semapv:UnspecifiedMatching OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:NFRKB semapv:UnspecifiedMatching OMIM:164013 NFRKB skos:exactMatch ncbigene:4798 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch UMLS:C1335610 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch UMLS:C4748997 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch hgnc.symbol:RELA semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch ncbigene:5970 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch hgnc.symbol:RELA semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch UMLS:C1335610 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:MATR3 semapv:UnspecifiedMatching OMIM:164015 MATR3 skos:exactMatch ncbigene:9782 semapv:UnspecifiedMatching OMIM:164017 HNRNPA1 skos:exactMatch ncbigene:3178 semapv:UnspecifiedMatching OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:HNRNPA1 semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch UMLS:C1415637 semapv:UnspecifiedMatching OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:HNRNPC semapv:UnspecifiedMatching OMIM:164020 HNRNPC skos:exactMatch ncbigene:3183 semapv:UnspecifiedMatching -OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:NOP2 semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch UMLS:C1415637 semapv:UnspecifiedMatching OMIM:164031 NOP2 skos:exactMatch ncbigene:4839 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:NOP2 semapv:UnspecifiedMatching OMIM:164035 NCL skos:exactMatch hgnc.symbol:NCL semapv:UnspecifiedMatching OMIM:164035 NCL skos:exactMatch ncbigene:4691 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch ncbigene:4869 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:NPM1 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C1334894 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:164050 PNP skos:exactMatch hgnc.symbol:PNP semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:NPM1 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch ncbigene:4869 semapv:UnspecifiedMatching OMIM:164050 PNP skos:exactMatch ncbigene:4860 semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch hgnc.symbol:PNP semapv:UnspecifiedMatching OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:NAP1L1 semapv:UnspecifiedMatching OMIM:164060 NAP1L1 skos:exactMatch ncbigene:4673 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch ncbigene:3952 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch hgnc.symbol:LEP semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch UMLS:C4016279 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C1416825 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch UMLS:C4016279 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch hgnc.symbol:LEP semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch ncbigene:3952 semapv:UnspecifiedMatching OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:POU2F1 semapv:UnspecifiedMatching OMIM:164175 POU2F1 skos:exactMatch ncbigene:5451 semapv:UnspecifiedMatching -OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:POU2F2 semapv:UnspecifiedMatching OMIM:164176 POU2F2 skos:exactMatch ncbigene:5452 semapv:UnspecifiedMatching -OMIM:164177 POU5F1 skos:exactMatch ncbigene:5460 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:POU2F2 semapv:UnspecifiedMatching OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:POU5F1 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch ncbigene:5460 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C5231388 semapv:UnspecifiedMatching OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching -OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:OBP2A semapv:UnspecifiedMatching OMIM:164320 OBP2A skos:exactMatch ncbigene:29991 semapv:UnspecifiedMatching OMIM:164340 OMP skos:exactMatch hgnc.symbol:OMP semapv:UnspecifiedMatching OMIM:164340 OMP skos:exactMatch ncbigene:4975 semapv:UnspecifiedMatching -OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:OR1D2 semapv:UnspecifiedMatching OMIM:164342 OR1D2 skos:exactMatch ncbigene:4991 semapv:UnspecifiedMatching -OMIM:164343 EBF1 skos:exactMatch ncbigene:1879 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:OR1D2 semapv:UnspecifiedMatching OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:EBF1 semapv:UnspecifiedMatching -OMIM:164345 OMG skos:exactMatch ncbigene:4974 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch ncbigene:1879 semapv:UnspecifiedMatching OMIM:164345 OMG skos:exactMatch hgnc.symbol:OMG semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch ncbigene:4974 semapv:UnspecifiedMatching OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:OAS1 semapv:UnspecifiedMatching OMIM:164350 OAS1 skos:exactMatch ncbigene:4938 semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:ATP5F1A semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C1412647 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch ncbigene:498 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:ABL2 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C1412647 semapv:UnspecifiedMatching OMIM:164690 ABL2 skos:exactMatch UMLS:C0812381 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:ABL2 semapv:UnspecifiedMatching OMIM:164690 ABL2 skos:exactMatch ncbigene:27 semapv:UnspecifiedMatching -OMIM:164720 ETS1 skos:exactMatch ncbigene:2113 semapv:UnspecifiedMatching OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:ETS1 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch ncbigene:2113 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch ncbigene:207 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C0812228 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C3277233 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:AKT1 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C3277233 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C0812228 semapv:UnspecifiedMatching OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:AKT2 semapv:UnspecifiedMatching OMIM:164731 AKT2 skos:exactMatch ncbigene:208 semapv:UnspecifiedMatching OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:ETS2 semapv:UnspecifiedMatching OMIM:164740 ETS2 skos:exactMatch ncbigene:2114 semapv:UnspecifiedMatching -OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:VIS1 semapv:UnspecifiedMatching OMIM:164755 VIS1 skos:exactMatch ncbigene:7435 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3150970 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch hgnc.symbol:BRAF semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:VIS1 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C0812241 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch ncbigene:673 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch hgnc.symbol:BRAF semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C4016284 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C3836559 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C0812241 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C3277236 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C2674727 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C3150971 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3150970 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C2674727 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:RAF1 semapv:UnspecifiedMatching OMIM:164760 RAF1 skos:exactMatch ncbigene:5894 semapv:UnspecifiedMatching -OMIM:164761 RET skos:exactMatch hgnc.symbol:RET semapv:UnspecifiedMatching OMIM:164761 RET skos:exactMatch ncbigene:5979 semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch hgnc.symbol:RET semapv:UnspecifiedMatching OMIM:164762 CRK skos:exactMatch hgnc.symbol:CRK semapv:UnspecifiedMatching OMIM:164762 CRK skos:exactMatch ncbigene:1398 semapv:UnspecifiedMatching OMIM:164765 CTTN skos:exactMatch hgnc.symbol:CTTN semapv:UnspecifiedMatching OMIM:164765 CTTN skos:exactMatch ncbigene:2017 semapv:UnspecifiedMatching -OMIM:164770 CSF1R skos:exactMatch ncbigene:1436 semapv:UnspecifiedMatching OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:CSF1R semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch ncbigene:1436 semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch hgnc.symbol:FOSB semapv:UnspecifiedMatching OMIM:164772 FOSB skos:exactMatch ncbigene:2354 semapv:UnspecifiedMatching OMIM:164772 FOSB skos:exactMatch UMLS:C1333571 semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch hgnc.symbol:FOSB semapv:UnspecifiedMatching OMIM:164780 SKI skos:exactMatch hgnc.symbol:SKI semapv:UnspecifiedMatching OMIM:164780 SKI skos:exactMatch ncbigene:6497 semapv:UnspecifiedMatching OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:MDM2 semapv:UnspecifiedMatching @@ -4317,51 +4317,51 @@ OMIM:164790 NRAS skos:exactMatch hgnc.symbol:NRAS semapv:UnspecifiedMatching OMIM:164790 NRAS skos:exactMatch ncbigene:4893 semapv:UnspecifiedMatching OMIM:164795 OCM skos:exactMatch ncbigene:654231 semapv:UnspecifiedMatching OMIM:164795 OCM skos:exactMatch hgnc.symbol:OCM semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch UMLS:C0087140 semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch hgnc.symbol:FOS semapv:UnspecifiedMatching OMIM:164810 FOS skos:exactMatch ncbigene:2353 semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch hgnc.symbol:FOS semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch UMLS:C0087140 semapv:UnspecifiedMatching OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:WNT1 semapv:UnspecifiedMatching OMIM:164820 WNT1 skos:exactMatch ncbigene:7471 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:BMI1 semapv:UnspecifiedMatching OMIM:164831 BMI1 skos:exactMatch UMLS:C1826623 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:BMI1 semapv:UnspecifiedMatching OMIM:164831 BMI1 skos:exactMatch ncbigene:648 semapv:UnspecifiedMatching -OMIM:164840 MYCN skos:exactMatch ncbigene:4613 semapv:UnspecifiedMatching OMIM:164840 MYCN skos:exactMatch hgnc.symbol:MYCN semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch ncbigene:4613 semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch UMLS:C0812289 semapv:UnspecifiedMatching OMIM:164850 MYCL skos:exactMatch hgnc.symbol:MYCL semapv:UnspecifiedMatching OMIM:164850 MYCL skos:exactMatch ncbigene:4610 semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch UMLS:C0812289 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch ncbigene:4233 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4084709 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4016290 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch hgnc.symbol:MET semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C1417123 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C1336839 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4016289 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch ncbigene:4233 semapv:UnspecifiedMatching OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:ERBB2 semapv:UnspecifiedMatching OMIM:164870 ERBB2 skos:exactMatch ncbigene:2064 semapv:UnspecifiedMatching -OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:ETV3 semapv:UnspecifiedMatching OMIM:164873 ETV3 skos:exactMatch ncbigene:2117 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:ETV3 semapv:UnspecifiedMatching OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:FOXG1 semapv:UnspecifiedMatching OMIM:164874 FOXG1 skos:exactMatch ncbigene:2290 semapv:UnspecifiedMatching OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:VAV1 semapv:UnspecifiedMatching OMIM:164875 VAV1 skos:exactMatch ncbigene:7409 semapv:UnspecifiedMatching -OMIM:164880 YES1 skos:exactMatch ncbigene:7525 semapv:UnspecifiedMatching OMIM:164880 YES1 skos:exactMatch hgnc.symbol:YES1 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch UMLS:C0035018 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch hgnc.symbol:REL semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch ncbigene:7525 semapv:UnspecifiedMatching OMIM:164910 REL skos:exactMatch ncbigene:5966 semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch hgnc.symbol:REL semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch UMLS:C0035018 semapv:UnspecifiedMatching OMIM:164920 KIT skos:exactMatch hgnc.symbol:KIT semapv:UnspecifiedMatching OMIM:164920 KIT skos:exactMatch ncbigene:3815 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch ncbigene:2268 semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch UMLS:C0919478 semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch hgnc.symbol:FGR semapv:UnspecifiedMatching -OMIM:164950 FGF3 skos:exactMatch ncbigene:2248 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch ncbigene:2268 semapv:UnspecifiedMatching OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:FGF3 semapv:UnspecifiedMatching -OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:NOTCH4 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch ncbigene:2248 semapv:UnspecifiedMatching OMIM:164951 NOTCH4 skos:exactMatch ncbigene:4855 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:NOTCH4 semapv:UnspecifiedMatching OMIM:164953 LPSA skos:exactMatch ncbigene:8177 semapv:UnspecifiedMatching OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:CCN3 semapv:UnspecifiedMatching OMIM:164958 CCN3 skos:exactMatch ncbigene:4856 semapv:UnspecifiedMatching @@ -4379,38 +4379,38 @@ OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:TRU-TCA1-1 semapv:Unspecified OMIM:165060 TRU-TCA1-1 skos:exactMatch ncbigene:7234 semapv:UnspecifiedMatching OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:FLT1 semapv:UnspecifiedMatching OMIM:165070 FLT1 skos:exactMatch ncbigene:2321 semapv:UnspecifiedMatching -OMIM:165080 ERG skos:exactMatch ncbigene:2078 semapv:UnspecifiedMatching OMIM:165080 ERG skos:exactMatch hgnc.symbol:ERG semapv:UnspecifiedMatching -OMIM:165090 RRAS skos:exactMatch hgnc.symbol:RRAS semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch ncbigene:2078 semapv:UnspecifiedMatching OMIM:165090 RRAS skos:exactMatch ncbigene:6237 semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch hgnc.symbol:RRAS semapv:UnspecifiedMatching OMIM:165095 OSM skos:exactMatch hgnc.symbol:OSM semapv:UnspecifiedMatching OMIM:165095 OSM skos:exactMatch ncbigene:5008 semapv:UnspecifiedMatching OMIM:165110 SEA skos:exactMatch hgnc.symbol:SEA semapv:UnspecifiedMatching OMIM:165110 SEA skos:exactMatch ncbigene:6395 semapv:UnspecifiedMatching OMIM:165120 LYN skos:exactMatch hgnc.symbol:LYN semapv:UnspecifiedMatching OMIM:165120 LYN skos:exactMatch ncbigene:4067 semapv:UnspecifiedMatching -OMIM:165140 PVT1 skos:exactMatch ncbigene:5820 semapv:UnspecifiedMatching OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:PVT1 semapv:UnspecifiedMatching -OMIM:165160 JUN skos:exactMatch hgnc.symbol:JUN semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch ncbigene:5820 semapv:UnspecifiedMatching OMIM:165160 JUN skos:exactMatch ncbigene:3725 semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch hgnc.symbol:JUN semapv:UnspecifiedMatching OMIM:165161 JUNB skos:exactMatch hgnc.symbol:JUNB semapv:UnspecifiedMatching OMIM:165161 JUNB skos:exactMatch ncbigene:3726 semapv:UnspecifiedMatching OMIM:165162 JUND skos:exactMatch hgnc.symbol:JUND semapv:UnspecifiedMatching OMIM:165162 JUND skos:exactMatch ncbigene:3727 semapv:UnspecifiedMatching OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:SPI1 semapv:UnspecifiedMatching OMIM:165170 SPI1 skos:exactMatch ncbigene:6688 semapv:UnspecifiedMatching -OMIM:165180 MAS1 skos:exactMatch ncbigene:4142 semapv:UnspecifiedMatching OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:MAS1 semapv:UnspecifiedMatching -OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:FGF5 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch ncbigene:4142 semapv:UnspecifiedMatching OMIM:165190 FGF5 skos:exactMatch ncbigene:2250 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:FGF5 semapv:UnspecifiedMatching OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:OPRD1 semapv:UnspecifiedMatching OMIM:165195 OPRD1 skos:exactMatch ncbigene:4985 semapv:UnspecifiedMatching OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:OPRK1 semapv:UnspecifiedMatching OMIM:165196 OPRK1 skos:exactMatch ncbigene:4986 semapv:UnspecifiedMatching OMIM:165215 MECOM skos:exactMatch hgnc.symbol:MECOM semapv:UnspecifiedMatching OMIM:165215 MECOM skos:exactMatch ncbigene:2122 semapv:UnspecifiedMatching -OMIM:165220 GLI1 skos:exactMatch ncbigene:2735 semapv:UnspecifiedMatching OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:GLI1 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch ncbigene:2735 semapv:UnspecifiedMatching OMIM:165230 GLI2 skos:exactMatch ncbigene:2736 semapv:UnspecifiedMatching OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:GLI2 semapv:UnspecifiedMatching OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:GLI3 semapv:UnspecifiedMatching @@ -4423,16 +4423,16 @@ OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:ZBTB48 semapv:UnspecifiedMatching OMIM:165270 ZBTB48 skos:exactMatch ncbigene:3104 semapv:UnspecifiedMatching OMIM:165280 GLI4 skos:exactMatch ncbigene:2738 semapv:UnspecifiedMatching OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:GLI4 semapv:UnspecifiedMatching -OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching +OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:WNT3 semapv:UnspecifiedMatching OMIM:165330 WNT3 skos:exactMatch ncbigene:7473 semapv:UnspecifiedMatching OMIM:165340 SKIL skos:exactMatch hgnc.symbol:SKIL semapv:UnspecifiedMatching OMIM:165340 SKIL skos:exactMatch ncbigene:6498 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch hgnc.symbol:CBL semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch ncbigene:867 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C4016300 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C4016301 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C4016300 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch hgnc.symbol:CBL semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C0812242 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching @@ -4440,19 +4440,19 @@ OMIM:165370 RHOB skos:exactMatch hgnc.symbol:RHOB semapv:UnspecifiedMatching OMIM:165370 RHOB skos:exactMatch ncbigene:388 semapv:UnspecifiedMatching OMIM:165380 RHOC skos:exactMatch hgnc.symbol:RHOC semapv:UnspecifiedMatching OMIM:165380 RHOC skos:exactMatch ncbigene:389 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch ncbigene:387 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch hgnc.symbol:RHOA semapv:UnspecifiedMatching OMIM:165390 RHOA skos:exactMatch UMLS:C0812234 semapv:UnspecifiedMatching OMIM:165390 RHOA skos:exactMatch UMLS:C5231517 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch hgnc.symbol:RHOA semapv:UnspecifiedMatching -OMIM:165500 optic atrophy 1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch ncbigene:387 semapv:UnspecifiedMatching OMIM:165500 optic atrophy 1 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching +OMIM:165500 optic atrophy 1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:ODC1 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C5436942 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch ncbigene:4953 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C1417933 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C1417932 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C1417933 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C5436942 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:ODC1 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch ncbigene:4953 semapv:UnspecifiedMatching OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch UMLS:C3665488 semapv:UnspecifiedMatching OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching @@ -4460,43 +4460,43 @@ OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch UMLS:C2 OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:SPP1 semapv:UnspecifiedMatching OMIM:166490 SPP1 skos:exactMatch ncbigene:6696 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching -OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:NBR1 semapv:UnspecifiedMatching OMIM:166945 NBR1 skos:exactMatch ncbigene:4077 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:NBR1 semapv:UnspecifiedMatching OMIM:167040 OSBP skos:exactMatch hgnc.symbol:OSBP semapv:UnspecifiedMatching OMIM:167040 OSBP skos:exactMatch ncbigene:5007 semapv:UnspecifiedMatching OMIM:167050 OXT skos:exactMatch hgnc.symbol:OXT semapv:UnspecifiedMatching OMIM:167050 OXT skos:exactMatch ncbigene:5020 semapv:UnspecifiedMatching -OMIM:167055 OXTR skos:exactMatch ncbigene:5021 semapv:UnspecifiedMatching OMIM:167055 OXTR skos:exactMatch hgnc.symbol:OXTR semapv:UnspecifiedMatching -OMIM:167200 pachyonychia congenita 1 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch ncbigene:5021 semapv:UnspecifiedMatching OMIM:167200 pachyonychia congenita 1 skos:exactMatch UMLS:C1706595 semapv:UnspecifiedMatching -OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching +OMIM:167200 pachyonychia congenita 1 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C4551951 semapv:UnspecifiedMatching OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:PCSK6 semapv:UnspecifiedMatching OMIM:167405 PCSK6 skos:exactMatch ncbigene:5046 semapv:UnspecifiedMatching OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:PAX2 semapv:UnspecifiedMatching OMIM:167409 PAX2 skos:exactMatch ncbigene:5076 semapv:UnspecifiedMatching -OMIM:167410 PAX7 skos:exactMatch ncbigene:5081 semapv:UnspecifiedMatching OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:PAX7 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch ncbigene:5081 semapv:UnspecifiedMatching OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:PAX1 semapv:UnspecifiedMatching OMIM:167411 PAX1 skos:exactMatch ncbigene:5075 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:PAX4 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch ncbigene:5078 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch UMLS:C4016306 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C1418275 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch UMLS:C4016306 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch ncbigene:5078 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:PAX5 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch ncbigene:5079 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch UMLS:C1335193 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:PAX5 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch ncbigene:5079 semapv:UnspecifiedMatching OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:PAX8 semapv:UnspecifiedMatching OMIM:167415 PAX8 skos:exactMatch ncbigene:7849 semapv:UnspecifiedMatching OMIM:167416 PAX9 skos:exactMatch UMLS:C1418278 semapv:UnspecifiedMatching @@ -4505,39 +4505,39 @@ OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:PAX9 semapv:UnspecifiedMatching OMIM:167416 PAX9 skos:exactMatch ncbigene:5083 semapv:UnspecifiedMatching OMIM:167420 PRRX1 skos:exactMatch ncbigene:5396 semapv:UnspecifiedMatching OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:PRRX1 semapv:UnspecifiedMatching -OMIM:167770 REG1A skos:exactMatch hgnc.symbol:REG1A semapv:UnspecifiedMatching OMIM:167770 REG1A skos:exactMatch ncbigene:5967 semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch hgnc.symbol:REG1A semapv:UnspecifiedMatching OMIM:167771 REG1B skos:exactMatch hgnc.symbol:REG1B semapv:UnspecifiedMatching OMIM:167771 REG1B skos:exactMatch ncbigene:5968 semapv:UnspecifiedMatching OMIM:167780 PPY skos:exactMatch hgnc.symbol:PPY semapv:UnspecifiedMatching OMIM:167780 PPY skos:exactMatch ncbigene:5539 semapv:UnspecifiedMatching OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:SPINK1 semapv:UnspecifiedMatching OMIM:167790 SPINK1 skos:exactMatch ncbigene:6690 semapv:UnspecifiedMatching -OMIM:167800 pancreatitis, hereditary skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching OMIM:167800 pancreatitis, hereditary skos:exactMatch UMLS:C0238339 semapv:UnspecifiedMatching -OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching +OMIM:167800 pancreatitis, hereditary skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching OMIM:167805 REG3A skos:exactMatch ncbigene:5068 semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:HPV18I1 semapv:UnspecifiedMatching OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:HPV18I2 semapv:UnspecifiedMatching OMIM:168360 ELAVL4 skos:exactMatch UMLS:C1414374 semapv:UnspecifiedMatching OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:ELAVL4 semapv:UnspecifiedMatching OMIM:168360 ELAVL4 skos:exactMatch ncbigene:1996 semapv:UnspecifiedMatching -OMIM:168440 PTMS skos:exactMatch ncbigene:5763 semapv:UnspecifiedMatching OMIM:168440 PTMS skos:exactMatch hgnc.symbol:PTMS semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch ncbigene:5763 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch ncbigene:5741 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch hgnc.symbol:PTH semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch UMLS:C1419072 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch hgnc.symbol:PTH semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch ncbigene:5741 semapv:UnspecifiedMatching OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:CCND1 semapv:UnspecifiedMatching OMIM:168461 CCND1 skos:exactMatch ncbigene:595 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch ncbigene:5745 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:PTH1R semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1419073 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1419073 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:PTH1R semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch ncbigene:5745 semapv:UnspecifiedMatching OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:PTHLH semapv:UnspecifiedMatching OMIM:168470 PTHLH skos:exactMatch ncbigene:5744 semapv:UnspecifiedMatching OMIM:168600 parkinson disease, late-onset skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching @@ -4564,20 +4564,20 @@ OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:PGA4 semapv:UnspecifiedMatching OMIM:169720 PGA4 skos:exactMatch ncbigene:643847 semapv:UnspecifiedMatching OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:PGA5 semapv:UnspecifiedMatching OMIM:169730 PGA5 skos:exactMatch ncbigene:5222 semapv:UnspecifiedMatching -OMIM:169740 PGC skos:exactMatch hgnc.symbol:PGC semapv:UnspecifiedMatching OMIM:169740 PGC skos:exactMatch ncbigene:5225 semapv:UnspecifiedMatching -OMIM:169800 CNDP2 skos:exactMatch ncbigene:55748 semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch hgnc.symbol:PGC semapv:UnspecifiedMatching OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:CNDP2 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch ncbigene:55748 semapv:UnspecifiedMatching OMIM:169900 PEPB skos:exactMatch hgnc.symbol:PEPB semapv:UnspecifiedMatching OMIM:169900 PEPB skos:exactMatch ncbigene:5182 semapv:UnspecifiedMatching OMIM:170000 PEPC skos:exactMatch hgnc.symbol:PEPC semapv:UnspecifiedMatching OMIM:170000 PEPC skos:exactMatch ncbigene:5183 semapv:UnspecifiedMatching OMIM:170200 PEPE skos:exactMatch hgnc.symbol:PEPE semapv:UnspecifiedMatching OMIM:170200 PEPE skos:exactMatch ncbigene:5185 semapv:UnspecifiedMatching -OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:LAP3 semapv:UnspecifiedMatching OMIM:170250 LAP3 skos:exactMatch ncbigene:51056 semapv:UnspecifiedMatching -OMIM:170260 TAP1 skos:exactMatch ncbigene:6890 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:LAP3 semapv:UnspecifiedMatching OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:TAP1 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch ncbigene:6890 semapv:UnspecifiedMatching OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:TAP2 semapv:UnspecifiedMatching OMIM:170261 TAP2 skos:exactMatch ncbigene:6891 semapv:UnspecifiedMatching OMIM:170270 PAM skos:exactMatch hgnc.symbol:PAM semapv:UnspecifiedMatching @@ -4594,8 +4594,8 @@ OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:PMP2 semapv:UnspecifiedMatching OMIM:170715 PMP2 skos:exactMatch ncbigene:5375 semapv:UnspecifiedMatching OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:PEX2 semapv:UnspecifiedMatching OMIM:170993 PEX2 skos:exactMatch ncbigene:5828 semapv:UnspecifiedMatching -OMIM:170995 ABCD3 skos:exactMatch ncbigene:5825 semapv:UnspecifiedMatching OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:ABCD3 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch ncbigene:5825 semapv:UnspecifiedMatching OMIM:170998 PPARA skos:exactMatch ncbigene:5465 semapv:UnspecifiedMatching OMIM:170998 PPARA skos:exactMatch hgnc.symbol:PPARA semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch UMLS:C0376622 semapv:UnspecifiedMatching @@ -4607,18 +4607,18 @@ OMIM:171050 ABCB1 skos:exactMatch ncbigene:5243 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch ncbigene:5244 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:ABCB4 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C3550019 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C1412071 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:SULT1A1 semapv:UnspecifiedMatching OMIM:171150 SULT1A1 skos:exactMatch ncbigene:6817 semapv:UnspecifiedMatching OMIM:171190 PNMT skos:exactMatch hgnc.symbol:PNMT semapv:UnspecifiedMatching OMIM:171190 PNMT skos:exactMatch ncbigene:5409 semapv:UnspecifiedMatching OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching -OMIM:171300 pheochromocytoma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching -OMIM:171490 PDC skos:exactMatch hgnc.symbol:PDC semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching OMIM:171490 PDC skos:exactMatch ncbigene:5132 semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch hgnc.symbol:PDC semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch UMLS:C1412131 semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch UMLS:C4016317 semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:ACP1 semapv:UnspecifiedMatching @@ -4627,41 +4627,41 @@ OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:ACP5 semapv:UnspecifiedMatching OMIM:171640 ACP5 skos:exactMatch ncbigene:54 semapv:UnspecifiedMatching OMIM:171650 ACP2 skos:exactMatch ncbigene:53 semapv:UnspecifiedMatching OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:ACP2 semapv:UnspecifiedMatching -OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching OMIM:171740 ALPI skos:exactMatch ncbigene:248 semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching OMIM:171760 ALPL skos:exactMatch hgnc.symbol:ALPL semapv:UnspecifiedMatching OMIM:171760 ALPL skos:exactMatch ncbigene:249 semapv:UnspecifiedMatching OMIM:171790 ACPP skos:exactMatch hgnc.symbol:ACP3 semapv:UnspecifiedMatching OMIM:171790 ACPP skos:exactMatch ncbigene:55 semapv:UnspecifiedMatching OMIM:171800 ALPP skos:exactMatch hgnc.symbol:ALPP semapv:UnspecifiedMatching OMIM:171800 ALPP skos:exactMatch ncbigene:250 semapv:UnspecifiedMatching -OMIM:171810 ALPPL2 skos:exactMatch ncbigene:251 semapv:UnspecifiedMatching OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:ALPG semapv:UnspecifiedMatching -OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:PIK3R1 semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch ncbigene:251 semapv:UnspecifiedMatching OMIM:171833 PIK3R1 skos:exactMatch ncbigene:5295 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:PIK3R1 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch ncbigene:5290 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:PIK3CA semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749057 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749056 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C3554518 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550024 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550023 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:PIK3CA semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674643 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1868358 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1335212 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674643 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch ncbigene:5290 semapv:UnspecifiedMatching -OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:PFKFB2 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching OMIM:171835 PFKFB2 skos:exactMatch ncbigene:5208 semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch ncbigene:5214 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:PFKFB2 semapv:UnspecifiedMatching OMIM:171840 PFKP skos:exactMatch UMLS:C1418493 semapv:UnspecifiedMatching OMIM:171840 PFKP skos:exactMatch hgnc.symbol:PFKP semapv:UnspecifiedMatching -OMIM:171860 PFKL skos:exactMatch ncbigene:5211 semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch ncbigene:5214 semapv:UnspecifiedMatching OMIM:171860 PFKL skos:exactMatch hgnc.symbol:PFKL semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch ncbigene:5211 semapv:UnspecifiedMatching OMIM:171885 PDE7A skos:exactMatch UMLS:C1418431 semapv:UnspecifiedMatching OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:PDE7A semapv:UnspecifiedMatching OMIM:171885 PDE7A skos:exactMatch ncbigene:5150 semapv:UnspecifiedMatching @@ -4669,164 +4669,164 @@ OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:PDE1A semapv:UnspecifiedMatching OMIM:171890 PDE1A skos:exactMatch ncbigene:5136 semapv:UnspecifiedMatching OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:PDE1B semapv:UnspecifiedMatching OMIM:171891 PDE1B skos:exactMatch ncbigene:5153 semapv:UnspecifiedMatching -OMIM:171900 PGM1 skos:exactMatch ncbigene:5236 semapv:UnspecifiedMatching OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:PGM1 semapv:UnspecifiedMatching -OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:PGM2 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch ncbigene:5236 semapv:UnspecifiedMatching OMIM:172000 PGM2 skos:exactMatch ncbigene:55276 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:PGM2 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch UMLS:C1418518 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:PGM3 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch ncbigene:5238 semapv:UnspecifiedMatching OMIM:172200 PGD skos:exactMatch hgnc.symbol:PGD semapv:UnspecifiedMatching OMIM:172200 PGD skos:exactMatch ncbigene:5226 semapv:UnspecifiedMatching -OMIM:172250 PGAM1 skos:exactMatch ncbigene:5223 semapv:UnspecifiedMatching OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:PGAM1 semapv:UnspecifiedMatching -OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:PGK2 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch ncbigene:5223 semapv:UnspecifiedMatching OMIM:172270 PGK2 skos:exactMatch ncbigene:5232 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:PGK2 semapv:UnspecifiedMatching OMIM:172280 PGP skos:exactMatch hgnc.symbol:PGP semapv:UnspecifiedMatching OMIM:172280 PGP skos:exactMatch ncbigene:283871 semapv:UnspecifiedMatching OMIM:172400 GPI skos:exactMatch hgnc.symbol:GPI semapv:UnspecifiedMatching OMIM:172400 GPI skos:exactMatch ncbigene:2821 semapv:UnspecifiedMatching -OMIM:172405 PLN skos:exactMatch ncbigene:5350 semapv:UnspecifiedMatching OMIM:172405 PLN skos:exactMatch hgnc.symbol:PLN semapv:UnspecifiedMatching -OMIM:172410 PLA2G1B skos:exactMatch ncbigene:5319 semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch ncbigene:5350 semapv:UnspecifiedMatching OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:PLA2G1B semapv:UnspecifiedMatching -OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:PLA2G2A semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch ncbigene:5319 semapv:UnspecifiedMatching OMIM:172411 PLA2G2A skos:exactMatch ncbigene:5320 semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:PLA2G2A semapv:UnspecifiedMatching OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:PLCG1 semapv:UnspecifiedMatching OMIM:172420 PLCG1 skos:exactMatch ncbigene:5335 semapv:UnspecifiedMatching OMIM:172425 PLTP skos:exactMatch hgnc.symbol:PLTP semapv:UnspecifiedMatching OMIM:172425 PLTP skos:exactMatch ncbigene:5360 semapv:UnspecifiedMatching -OMIM:172430 ENO1 skos:exactMatch ncbigene:2023 semapv:UnspecifiedMatching OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:ENO1 semapv:UnspecifiedMatching -OMIM:172439 PAICS skos:exactMatch ncbigene:10606 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch ncbigene:2023 semapv:UnspecifiedMatching OMIM:172439 PAICS skos:exactMatch hgnc.symbol:PAICS semapv:UnspecifiedMatching -OMIM:172450 PPAT skos:exactMatch hgnc.symbol:PPAT semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch ncbigene:10606 semapv:UnspecifiedMatching OMIM:172450 PPAT skos:exactMatch ncbigene:5471 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:MTHFD1 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540670 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540543 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch ncbigene:4522 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016262 semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch hgnc.symbol:PPAT semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C1417420 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016262 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016322 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540543 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540670 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:MTHFD1 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch ncbigene:4522 semapv:UnspecifiedMatching OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:PHKG1 semapv:UnspecifiedMatching OMIM:172470 PHKG1 skos:exactMatch ncbigene:5260 semapv:UnspecifiedMatching -OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:PHKG2 semapv:UnspecifiedMatching OMIM:172471 PHKG2 skos:exactMatch ncbigene:5261 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:PHKG2 semapv:UnspecifiedMatching OMIM:172480 PSPH skos:exactMatch hgnc.symbol:PSPH semapv:UnspecifiedMatching OMIM:172480 PSPH skos:exactMatch ncbigene:5723 semapv:UnspecifiedMatching OMIM:172490 PHKB skos:exactMatch hgnc.symbol:PHKB semapv:UnspecifiedMatching OMIM:172490 PHKB skos:exactMatch ncbigene:5257 semapv:UnspecifiedMatching -OMIM:172860 SERPINF1 skos:exactMatch ncbigene:5176 semapv:UnspecifiedMatching OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:SERPINF1 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch ncbigene:5176 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch ncbigene:5449 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:POU1F1 semapv:UnspecifiedMatching OMIM:173110 POU1F1 skos:exactMatch UMLS:C1418759 semapv:UnspecifiedMatching OMIM:173110 POU1F1 skos:exactMatch UMLS:C2751608 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:POU1F1 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch ncbigene:5449 semapv:UnspecifiedMatching OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:SCG5 semapv:UnspecifiedMatching OMIM:173120 SGNE1 skos:exactMatch ncbigene:6447 semapv:UnspecifiedMatching OMIM:173310 PAEP skos:exactMatch hgnc.symbol:PAEP semapv:UnspecifiedMatching OMIM:173310 PAEP skos:exactMatch ncbigene:5047 semapv:UnspecifiedMatching OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:RNH1 semapv:UnspecifiedMatching OMIM:173320 RNH1 skos:exactMatch ncbigene:6050 semapv:UnspecifiedMatching -OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:SERPINB6 semapv:UnspecifiedMatching OMIM:173321 SERPINB6 skos:exactMatch ncbigene:5269 semapv:UnspecifiedMatching -OMIM:173325 JUP skos:exactMatch hgnc.symbol:JUP semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:SERPINB6 semapv:UnspecifiedMatching OMIM:173325 JUP skos:exactMatch ncbigene:3728 semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch hgnc.symbol:JUP semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C1414407 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch ncbigene:5167 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C5436943 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:ENPP1 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch ncbigene:5167 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:ENPP1 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C2750078 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C1866432 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C1414407 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C3809781 semapv:UnspecifiedMatching OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:PLGLB1 semapv:UnspecifiedMatching OMIM:173340 PLGLB1 skos:exactMatch ncbigene:5343 semapv:UnspecifiedMatching OMIM:173350 PLG skos:exactMatch hgnc.symbol:PLG semapv:UnspecifiedMatching OMIM:173350 PLG skos:exactMatch ncbigene:5340 semapv:UnspecifiedMatching -OMIM:173360 SERPINE1 skos:exactMatch ncbigene:5054 semapv:UnspecifiedMatching OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:SERPINE1 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch ncbigene:5054 semapv:UnspecifiedMatching OMIM:173370 PLAT skos:exactMatch hgnc.symbol:PLAT semapv:UnspecifiedMatching OMIM:173370 PLAT skos:exactMatch ncbigene:5327 semapv:UnspecifiedMatching -OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:SERPINB2 semapv:UnspecifiedMatching OMIM:173390 SERPINB2 skos:exactMatch ncbigene:5055 semapv:UnspecifiedMatching -OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:PLAUR semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:SERPINB2 semapv:UnspecifiedMatching OMIM:173391 PLAUR skos:exactMatch ncbigene:5329 semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:PLAUR semapv:UnspecifiedMatching OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:PTAFR semapv:UnspecifiedMatching OMIM:173393 PTAFR skos:exactMatch ncbigene:5724 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:PDGFRB semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch ncbigene:5159 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C1335202 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C3554321 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C1335202 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching -OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:PDGFA semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:PDGFRB semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch ncbigene:5159 semapv:UnspecifiedMatching OMIM:173430 PDGFA skos:exactMatch ncbigene:5154 semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:PDGFA semapv:UnspecifiedMatching OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:PECAM1 semapv:UnspecifiedMatching OMIM:173445 PECAM1 skos:exactMatch ncbigene:5175 semapv:UnspecifiedMatching OMIM:173460 PF4 skos:exactMatch hgnc.symbol:PF4 semapv:UnspecifiedMatching OMIM:173460 PF4 skos:exactMatch ncbigene:5196 semapv:UnspecifiedMatching -OMIM:173461 PF4V1 skos:exactMatch ncbigene:5197 semapv:UnspecifiedMatching OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:PF4V1 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch ncbigene:5197 semapv:UnspecifiedMatching OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:ITGB3 semapv:UnspecifiedMatching OMIM:173470 ITGB3 skos:exactMatch ncbigene:3690 semapv:UnspecifiedMatching -OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:PDGFRA semapv:UnspecifiedMatching OMIM:173490 PDGFRA skos:exactMatch ncbigene:5156 semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:PDGFRA semapv:UnspecifiedMatching OMIM:173510 CD36 skos:exactMatch hgnc.symbol:CD36 semapv:UnspecifiedMatching OMIM:173510 CD36 skos:exactMatch ncbigene:948 semapv:UnspecifiedMatching OMIM:173511 GP5 skos:exactMatch hgnc.symbol:GP5 semapv:UnspecifiedMatching OMIM:173511 GP5 skos:exactMatch ncbigene:2814 semapv:UnspecifiedMatching -OMIM:173515 GP9 skos:exactMatch ncbigene:2815 semapv:UnspecifiedMatching OMIM:173515 GP9 skos:exactMatch hgnc.symbol:GP9 semapv:UnspecifiedMatching -OMIM:173570 PLEK skos:exactMatch hgnc.symbol:PLEK semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch ncbigene:2815 semapv:UnspecifiedMatching OMIM:173570 PLEK skos:exactMatch ncbigene:5341 semapv:UnspecifiedMatching -OMIM:173610 SELP skos:exactMatch hgnc.symbol:SELP semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch hgnc.symbol:PLEK semapv:UnspecifiedMatching OMIM:173610 SELP skos:exactMatch ncbigene:6403 semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch hgnc.symbol:SELP semapv:UnspecifiedMatching OMIM:173850 PVR skos:exactMatch hgnc.symbol:PVR semapv:UnspecifiedMatching OMIM:173850 PVR skos:exactMatch ncbigene:5817 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch UMLS:C1538577 semapv:UnspecifiedMatching OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:PARP1 semapv:UnspecifiedMatching OMIM:173870 PARP1 skos:exactMatch ncbigene:142 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch UMLS:C1538577 semapv:UnspecifiedMatching OMIM:173880 PIGR skos:exactMatch hgnc.symbol:PIGR semapv:UnspecifiedMatching OMIM:173880 PIGR skos:exactMatch ncbigene:5284 semapv:UnspecifiedMatching -OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:PKD2 semapv:UnspecifiedMatching OMIM:173910 PKD2 skos:exactMatch ncbigene:5311 semapv:UnspecifiedMatching -OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:PKD2 semapv:UnspecifiedMatching OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching +OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch hgnc.symbol:POLB semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch ncbigene:5423 semapv:UnspecifiedMatching OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:POLD1 semapv:UnspecifiedMatching OMIM:174761 POLD1 skos:exactMatch ncbigene:5424 semapv:UnspecifiedMatching -OMIM:174762 POLE skos:exactMatch ncbigene:5426 semapv:UnspecifiedMatching OMIM:174762 POLE skos:exactMatch hgnc.symbol:POLE semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch ncbigene:5426 semapv:UnspecifiedMatching OMIM:174763 POLG skos:exactMatch hgnc.symbol:POLG semapv:UnspecifiedMatching OMIM:174763 POLG skos:exactMatch ncbigene:5428 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2674616 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2713442 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C2675650 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C2936779 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C2675650 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0268322 semapv:UnspecifiedMatching -OMIM:176256 KCNC2 skos:exactMatch ncbigene:3747 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C2936779 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:KCNC2 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch ncbigene:3747 semapv:UnspecifiedMatching OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:KCNA6 semapv:UnspecifiedMatching OMIM:176257 KCNA6 skos:exactMatch ncbigene:3742 semapv:UnspecifiedMatching OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:KCNC1 semapv:UnspecifiedMatching @@ -4837,16 +4837,16 @@ OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:KCNE1 semapv:UnspecifiedMatching OMIM:176261 KCNE1 skos:exactMatch ncbigene:3753 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch ncbigene:3737 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:KCNA2 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch UMLS:C1416545 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch UMLS:C1416545 semapv:UnspecifiedMatching OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:KCNA3 semapv:UnspecifiedMatching OMIM:176263 KCNA3 skos:exactMatch ncbigene:3738 semapv:UnspecifiedMatching OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:KCNC3 semapv:UnspecifiedMatching OMIM:176264 KCNC3 skos:exactMatch ncbigene:3748 semapv:UnspecifiedMatching OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:KCNC4 semapv:UnspecifiedMatching OMIM:176265 KCNC4 skos:exactMatch ncbigene:3749 semapv:UnspecifiedMatching -OMIM:176266 KCNA4 skos:exactMatch ncbigene:3739 semapv:UnspecifiedMatching OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:KCNA4 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch ncbigene:3739 semapv:UnspecifiedMatching OMIM:176267 KCNA5 skos:exactMatch ncbigene:3741 semapv:UnspecifiedMatching OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:KCNA5 semapv:UnspecifiedMatching OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:KCNA7 semapv:UnspecifiedMatching @@ -4858,35 +4858,35 @@ OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177910 semapv:Unspeci OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching OMIM:176290 DLK1 skos:exactMatch ncbigene:8788 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:DLK1 semapv:UnspecifiedMatching OMIM:176290 DLK1 skos:exactMatch UMLS:C1414069 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:DLK1 semapv:UnspecifiedMatching OMIM:176300 TTR skos:exactMatch hgnc.symbol:TTR semapv:UnspecifiedMatching OMIM:176300 TTR skos:exactMatch ncbigene:7276 semapv:UnspecifiedMatching OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch ncbigene:5087 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:PBX1 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4693973 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4693972 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4540544 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C1418285 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C4693971 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C1418285 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C1418287 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4540544 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4693972 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4693973 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:PBX1 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch ncbigene:5087 semapv:UnspecifiedMatching OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:PBX2 semapv:UnspecifiedMatching OMIM:176311 PBX2 skos:exactMatch ncbigene:5089 semapv:UnspecifiedMatching -OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:PBX3 semapv:UnspecifiedMatching OMIM:176312 PBX3 skos:exactMatch ncbigene:5090 semapv:UnspecifiedMatching -OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:PAPPA semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:PBX3 semapv:UnspecifiedMatching OMIM:176385 PAPPA skos:exactMatch ncbigene:5069 semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:PAPPA semapv:UnspecifiedMatching OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:PSG1 semapv:UnspecifiedMatching OMIM:176390 PSG1 skos:exactMatch ncbigene:5669 semapv:UnspecifiedMatching OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:PSG2 semapv:UnspecifiedMatching OMIM:176391 PSG2 skos:exactMatch ncbigene:5670 semapv:UnspecifiedMatching OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:PSG3 semapv:UnspecifiedMatching OMIM:176392 PSG3 skos:exactMatch ncbigene:5671 semapv:UnspecifiedMatching -OMIM:176393 PSG4 skos:exactMatch ncbigene:5672 semapv:UnspecifiedMatching OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:PSG4 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch ncbigene:5672 semapv:UnspecifiedMatching OMIM:176394 PSG5 skos:exactMatch ncbigene:5673 semapv:UnspecifiedMatching OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:PSG5 semapv:UnspecifiedMatching OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:PSG6 semapv:UnspecifiedMatching @@ -4895,82 +4895,82 @@ OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:PSG7 semapv:UnspecifiedMatching OMIM:176396 PSG7 skos:exactMatch ncbigene:5676 semapv:UnspecifiedMatching OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:PSG8 semapv:UnspecifiedMatching OMIM:176397 PSG8 skos:exactMatch ncbigene:440533 semapv:UnspecifiedMatching -OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:PSG9 semapv:UnspecifiedMatching OMIM:176398 PSG9 skos:exactMatch ncbigene:5678 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:PSG9 semapv:UnspecifiedMatching OMIM:176399 PSG10P skos:exactMatch ncbigene:653492 semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch UMLS:C1418992 semapv:UnspecifiedMatching OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:PSG10P semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch UMLS:C1418992 semapv:UnspecifiedMatching OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:PSG11 semapv:UnspecifiedMatching OMIM:176401 PSG11 skos:exactMatch ncbigene:5680 semapv:UnspecifiedMatching OMIM:176420 PZP skos:exactMatch hgnc.symbol:PZP semapv:UnspecifiedMatching OMIM:176420 PZP skos:exactMatch ncbigene:5858 semapv:UnspecifiedMatching OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:PFN2 semapv:UnspecifiedMatching OMIM:176590 PFN2 skos:exactMatch ncbigene:5217 semapv:UnspecifiedMatching -OMIM:176610 PFN1 skos:exactMatch ncbigene:5216 semapv:UnspecifiedMatching OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:PFN1 semapv:UnspecifiedMatching -OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:PRIM1 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch ncbigene:5216 semapv:UnspecifiedMatching OMIM:176635 PRIM1 skos:exactMatch ncbigene:5557 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:PRIM1 semapv:UnspecifiedMatching OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:PRIM2 semapv:UnspecifiedMatching OMIM:176636 PRIM2A skos:exactMatch ncbigene:5558 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch ncbigene:5621 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch hgnc.symbol:PRNP semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4016338 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4016337 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C3805618 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C1867752 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C1867751 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C1847650 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch hgnc.symbol:PRNP semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C1418941 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C0206042 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C0022336 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch ncbigene:5621 semapv:UnspecifiedMatching -OMIM:176705 PHB skos:exactMatch ncbigene:5245 semapv:UnspecifiedMatching OMIM:176705 PHB skos:exactMatch hgnc.symbol:PHB1 semapv:UnspecifiedMatching -OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:P4HA1 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch ncbigene:5245 semapv:UnspecifiedMatching OMIM:176710 P4HA1 skos:exactMatch ncbigene:5033 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:P4HA1 semapv:UnspecifiedMatching OMIM:176720 PIP skos:exactMatch hgnc.symbol:PIP semapv:UnspecifiedMatching OMIM:176720 PIP skos:exactMatch ncbigene:5304 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch hgnc.symbol:INS semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch ncbigene:3630 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C1337112 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C0342283 semapv:UnspecifiedMatching -OMIM:176740 PCNA skos:exactMatch hgnc.symbol:PCNA semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C1337112 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch hgnc.symbol:INS semapv:UnspecifiedMatching OMIM:176740 PCNA skos:exactMatch ncbigene:5111 semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch hgnc.symbol:PCNA semapv:UnspecifiedMatching OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:MKI67 semapv:UnspecifiedMatching OMIM:176741 MKI67 skos:exactMatch ncbigene:4288 semapv:UnspecifiedMatching OMIM:176760 PRL skos:exactMatch hgnc.symbol:PRL semapv:UnspecifiedMatching OMIM:176760 PRL skos:exactMatch ncbigene:5617 semapv:UnspecifiedMatching -OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching OMIM:176761 PRLR skos:exactMatch hgnc.symbol:PRLR semapv:UnspecifiedMatching -OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:PRDX1 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch hgnc.symbol:PRCP semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch ncbigene:5547 semapv:UnspecifiedMatching OMIM:176790 P4HB skos:exactMatch hgnc.symbol:P4HB semapv:UnspecifiedMatching OMIM:176790 P4HB skos:exactMatch ncbigene:5034 semapv:UnspecifiedMatching -OMIM:176793 PMCHL1 skos:exactMatch ncbigene:5369 semapv:UnspecifiedMatching OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:PMCHL1 semapv:UnspecifiedMatching -OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:PMCHL2 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch ncbigene:5369 semapv:UnspecifiedMatching OMIM:176794 PMCHL2 skos:exactMatch ncbigene:5370 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:PMCHL2 semapv:UnspecifiedMatching OMIM:176795 PMCH skos:exactMatch hgnc.symbol:PMCH semapv:UnspecifiedMatching OMIM:176795 PMCH skos:exactMatch ncbigene:5367 semapv:UnspecifiedMatching OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:ZBTB16 semapv:UnspecifiedMatching OMIM:176797 ZBTB16 skos:exactMatch ncbigene:7704 semapv:UnspecifiedMatching -OMIM:176801 PSAP skos:exactMatch ncbigene:5660 semapv:UnspecifiedMatching OMIM:176801 PSAP skos:exactMatch hgnc.symbol:PSAP semapv:UnspecifiedMatching -OMIM:176802 PTGER1 skos:exactMatch ncbigene:5731 semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch ncbigene:5660 semapv:UnspecifiedMatching OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:PTGER1 semapv:UnspecifiedMatching -OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:PTGDS semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch ncbigene:5731 semapv:UnspecifiedMatching OMIM:176803 PTGDS skos:exactMatch ncbigene:5730 semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:PTGDS semapv:UnspecifiedMatching OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:PTGER2 semapv:UnspecifiedMatching OMIM:176804 PTGER2 skos:exactMatch ncbigene:5732 semapv:UnspecifiedMatching OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:PTGS1 semapv:UnspecifiedMatching @@ -4979,8 +4979,8 @@ OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:PTGER3 semapv:UnspecifiedMatching OMIM:176806 PTGER3 skos:exactMatch ncbigene:5733 semapv:UnspecifiedMatching OMIM:176807 prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching OMIM:176807 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching -OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:KLK3 semapv:UnspecifiedMatching OMIM:176820 KLK3 skos:exactMatch ncbigene:354 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:KLK3 semapv:UnspecifiedMatching OMIM:176830 POMC skos:exactMatch hgnc.symbol:POMC semapv:UnspecifiedMatching OMIM:176830 POMC skos:exactMatch ncbigene:5443 semapv:UnspecifiedMatching OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:PSMA2 semapv:UnspecifiedMatching @@ -4995,28 +4995,28 @@ OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:PSMB10 semapv:UnspecifiedMatching OMIM:176847 PSMB10 skos:exactMatch ncbigene:5699 semapv:UnspecifiedMatching OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:PCMT1 semapv:UnspecifiedMatching OMIM:176851 PCMT1 skos:exactMatch ncbigene:5110 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch hgnc.symbol:AMBP semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch ncbigene:259 semapv:UnspecifiedMatching OMIM:176870 AMBP skos:exactMatch UMLS:C0077906 semapv:UnspecifiedMatching OMIM:176870 AMBP skos:exactMatch UMLS:C1412376 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C1539341 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:EIF2AK2 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch hgnc.symbol:AMBP semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch ncbigene:259 semapv:UnspecifiedMatching OMIM:176871 EIF2AK2 skos:exactMatch ncbigene:5610 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:MAP2K1 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:EIF2AK2 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C1539341 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C1334474 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C5394559 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:MAP2K1 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch ncbigene:5604 semapv:UnspecifiedMatching -OMIM:176873 CDK11B skos:exactMatch ncbigene:984 semapv:UnspecifiedMatching OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:CDK11B semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch ncbigene:984 semapv:UnspecifiedMatching OMIM:176875 PPP1CA skos:exactMatch UMLS:C1335240 semapv:UnspecifiedMatching OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:PPP1CA semapv:UnspecifiedMatching OMIM:176875 PPP1CA skos:exactMatch ncbigene:5499 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch ncbigene:5781 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:PTPN11 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch ncbigene:5781 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C1335280 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching @@ -5027,21 +5027,21 @@ OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:PTPN4 semapv:UnspecifiedMatching OMIM:176878 PTPN4 skos:exactMatch ncbigene:5775 semapv:UnspecifiedMatching OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:PTPN5 semapv:UnspecifiedMatching OMIM:176879 PTPN5 skos:exactMatch ncbigene:84867 semapv:UnspecifiedMatching -OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:PROS1 semapv:UnspecifiedMatching OMIM:176880 PROS1 skos:exactMatch ncbigene:5627 semapv:UnspecifiedMatching -OMIM:176882 PTPRB skos:exactMatch ncbigene:5787 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:PROS1 semapv:UnspecifiedMatching OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:PTPRB semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch ncbigene:5787 semapv:UnspecifiedMatching OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:PTPN6 semapv:UnspecifiedMatching OMIM:176883 PTPN6 skos:exactMatch ncbigene:5777 semapv:UnspecifiedMatching OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:PTPRA semapv:UnspecifiedMatching OMIM:176884 PTPRA skos:exactMatch ncbigene:5786 semapv:UnspecifiedMatching OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:PTPN1 semapv:UnspecifiedMatching OMIM:176885 PTPN1 skos:exactMatch ncbigene:5770 semapv:UnspecifiedMatching -OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:PTPRG semapv:UnspecifiedMatching OMIM:176886 PTPRG skos:exactMatch ncbigene:5793 semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:PTPRG semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:PTPN2 semapv:UnspecifiedMatching OMIM:176887 PTPN2 skos:exactMatch ncbigene:5771 semapv:UnspecifiedMatching OMIM:176887 PTPN2 skos:exactMatch UMLS:C1419100 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:PTPN2 semapv:UnspecifiedMatching OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:PTPRM semapv:UnspecifiedMatching OMIM:176888 PTPRM skos:exactMatch ncbigene:5797 semapv:UnspecifiedMatching OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:PTPN7 semapv:UnspecifiedMatching @@ -5050,18 +5050,18 @@ OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:PTPRZ1 semapv:UnspecifiedMatching OMIM:176891 PTPRZ1 skos:exactMatch ncbigene:5803 semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch ncbigene:5567 semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:PRKACB semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch UMLS:C1418902 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:PRKACG semapv:UnspecifiedMatching OMIM:176893 PRKACG skos:exactMatch ncbigene:5568 semapv:UnspecifiedMatching OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:PRKG1 semapv:UnspecifiedMatching OMIM:176894 PRKG1 skos:exactMatch ncbigene:5592 semapv:UnspecifiedMatching OMIM:176895 PROZ skos:exactMatch hgnc.symbol:PROZ semapv:UnspecifiedMatching OMIM:176895 PROZ skos:exactMatch ncbigene:8858 semapv:UnspecifiedMatching -OMIM:176910 PRKAR2A skos:exactMatch ncbigene:5576 semapv:UnspecifiedMatching OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:PRKAR2A semapv:UnspecifiedMatching -OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:PRKAR1B semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch ncbigene:5576 semapv:UnspecifiedMatching OMIM:176911 PRKAR1B skos:exactMatch ncbigene:5575 semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:PRKAR1B semapv:UnspecifiedMatching OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:PRKAR2B semapv:UnspecifiedMatching OMIM:176912 PRKAR2B skos:exactMatch ncbigene:5577 semapv:UnspecifiedMatching OMIM:176914 PPP1CC skos:exactMatch UMLS:C1418821 semapv:UnspecifiedMatching @@ -5069,10 +5069,10 @@ OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:PPP1CC semapv:UnspecifiedMatching OMIM:176914 PPP1CC skos:exactMatch ncbigene:5501 semapv:UnspecifiedMatching OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:PPP2CA semapv:UnspecifiedMatching OMIM:176915 PPP2CA skos:exactMatch ncbigene:5515 semapv:UnspecifiedMatching -OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:PPP2CB semapv:UnspecifiedMatching OMIM:176916 PPP2CB skos:exactMatch ncbigene:5516 semapv:UnspecifiedMatching -OMIM:176930 F2 skos:exactMatch ncbigene:2147 semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:PPP2CB semapv:UnspecifiedMatching OMIM:176930 F2 skos:exactMatch hgnc.symbol:F2 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch ncbigene:2147 semapv:UnspecifiedMatching OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:S100A1 semapv:UnspecifiedMatching OMIM:176940 S100A1 skos:exactMatch ncbigene:6271 semapv:UnspecifiedMatching OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:TYK2 semapv:UnspecifiedMatching @@ -5090,10 +5090,10 @@ OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016349 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:EPHA2 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch ncbigene:1969 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch ncbigene:7535 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:ZAP70 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch UMLS:C1421567 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch UMLS:C2931299 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch UMLS:C1421567 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch UMLS:C1366882 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:MAPK1 semapv:UnspecifiedMatching @@ -5102,9 +5102,9 @@ OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:MAPK4 semapv:UnspecifiedMatching OMIM:176949 MAPK4 skos:exactMatch ncbigene:5596 semapv:UnspecifiedMatching OMIM:176960 PRKCA skos:exactMatch ncbigene:5578 semapv:UnspecifiedMatching OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:PRKCA semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch ncbigene:5579 semapv:UnspecifiedMatching OMIM:176970 PRKCB skos:exactMatch UMLS:C1418913 semapv:UnspecifiedMatching OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:PRKCB semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch ncbigene:5579 semapv:UnspecifiedMatching OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:PRKCE semapv:UnspecifiedMatching OMIM:176975 PRKCE skos:exactMatch ncbigene:5581 semapv:UnspecifiedMatching OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:PRKCD semapv:UnspecifiedMatching @@ -5113,18 +5113,18 @@ OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:PRKCG semapv:UnspecifiedMatching OMIM:176980 PRKCG skos:exactMatch ncbigene:5582 semapv:UnspecifiedMatching OMIM:176981 RACK1 skos:exactMatch ncbigene:10399 semapv:UnspecifiedMatching OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:RACK1 semapv:UnspecifiedMatching -OMIM:176982 PRKCZ skos:exactMatch ncbigene:5590 semapv:UnspecifiedMatching OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:PRKCZ semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch ncbigene:5590 semapv:UnspecifiedMatching OMIM:176990 S100B skos:exactMatch hgnc.symbol:S100B semapv:UnspecifiedMatching OMIM:176990 S100B skos:exactMatch ncbigene:6285 semapv:UnspecifiedMatching OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:S100A5 semapv:UnspecifiedMatching OMIM:176991 S100A5 skos:exactMatch ncbigene:6276 semapv:UnspecifiedMatching -OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:S100A3 semapv:UnspecifiedMatching OMIM:176992 S100A3 skos:exactMatch ncbigene:6274 semapv:UnspecifiedMatching -OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:S100A2 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:S100A3 semapv:UnspecifiedMatching OMIM:176993 S100A2 skos:exactMatch ncbigene:6273 semapv:UnspecifiedMatching -OMIM:177010 SERPINE2 skos:exactMatch ncbigene:5270 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:S100A2 semapv:UnspecifiedMatching OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:SERPINE2 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch ncbigene:5270 semapv:UnspecifiedMatching OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:PSKH1 semapv:UnspecifiedMatching OMIM:177015 PSKH1 skos:exactMatch ncbigene:5681 semapv:UnspecifiedMatching OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:PRTN3 semapv:UnspecifiedMatching @@ -5133,29 +5133,29 @@ OMIM:177040 SRGN skos:exactMatch hgnc.symbol:SRGN semapv:UnspecifiedMatching OMIM:177040 SRGN skos:exactMatch ncbigene:5552 semapv:UnspecifiedMatching OMIM:177045 PSMB9 skos:exactMatch ncbigene:5698 semapv:UnspecifiedMatching OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:PSMB9 semapv:UnspecifiedMatching -OMIM:177046 PSMB8 skos:exactMatch ncbigene:5696 semapv:UnspecifiedMatching OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:PSMB8 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch ncbigene:5696 semapv:UnspecifiedMatching OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:PRKCSH semapv:UnspecifiedMatching OMIM:177060 PRKCSH skos:exactMatch ncbigene:5589 semapv:UnspecifiedMatching OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:MARCKS semapv:UnspecifiedMatching OMIM:177061 MARCKS skos:exactMatch ncbigene:4082 semapv:UnspecifiedMatching OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:EPB42 semapv:UnspecifiedMatching OMIM:177070 EPB42 skos:exactMatch ncbigene:2038 semapv:UnspecifiedMatching -OMIM:177075 MAF skos:exactMatch hgnc.symbol:MAF semapv:UnspecifiedMatching OMIM:177075 MAF skos:exactMatch ncbigene:4094 semapv:UnspecifiedMatching -OMIM:177400 BCHE skos:exactMatch ncbigene:590 semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch hgnc.symbol:MAF semapv:UnspecifiedMatching OMIM:177400 BCHE skos:exactMatch hgnc.symbol:BCHE semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch ncbigene:590 semapv:UnspecifiedMatching OMIM:177900 psoriasis 1, susceptibility to skos:exactMatch UMLS:C1867449 semapv:UnspecifiedMatching OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:SFTPC semapv:UnspecifiedMatching OMIM:178620 SFTPC skos:exactMatch ncbigene:6440 semapv:UnspecifiedMatching -OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:SFTPA1 semapv:UnspecifiedMatching OMIM:178630 SFTPA1 skos:exactMatch ncbigene:653509 semapv:UnspecifiedMatching -OMIM:178635 SFTPD skos:exactMatch ncbigene:6441 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:SFTPA1 semapv:UnspecifiedMatching OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:SFTPD semapv:UnspecifiedMatching -OMIM:178640 SFTPB skos:exactMatch ncbigene:6439 semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch ncbigene:6441 semapv:UnspecifiedMatching OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:SFTPB semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch ncbigene:6439 semapv:UnspecifiedMatching OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:SFTPA2 semapv:UnspecifiedMatching OMIM:178642 SFTPA2 skos:exactMatch ncbigene:729238 semapv:UnspecifiedMatching OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:MMP7 semapv:UnspecifiedMatching @@ -5182,8 +5182,8 @@ OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMat OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching OMIM:179410 RDX skos:exactMatch hgnc.symbol:RDX semapv:UnspecifiedMatching OMIM:179410 RDX skos:exactMatch ncbigene:5962 semapv:UnspecifiedMatching -OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:RAB3A semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching OMIM:179502 RAP1GDS1 skos:exactMatch ncbigene:5910 semapv:UnspecifiedMatching OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:RAP1GDS1 semapv:UnspecifiedMatching OMIM:179503 RRAD skos:exactMatch UMLS:C0919455 semapv:UnspecifiedMatching @@ -5205,17 +5205,17 @@ OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:RAB5A semapv:UnspecifiedMatching OMIM:179512 RAB5A skos:exactMatch ncbigene:5868 semapv:UnspecifiedMatching OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:RAB6A semapv:UnspecifiedMatching OMIM:179513 RAB6A skos:exactMatch ncbigene:5870 semapv:UnspecifiedMatching -OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:RAB5B semapv:UnspecifiedMatching OMIM:179514 RAB5B skos:exactMatch ncbigene:5869 semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:RAB5B semapv:UnspecifiedMatching OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:RAP1A semapv:UnspecifiedMatching OMIM:179520 RAP1A skos:exactMatch ncbigene:5906 semapv:UnspecifiedMatching OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:RAP1B semapv:UnspecifiedMatching OMIM:179530 RAP1B skos:exactMatch ncbigene:5908 semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch UMLS:C1419269 semapv:UnspecifiedMatching OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:RAP2A semapv:UnspecifiedMatching OMIM:179540 RAP2A skos:exactMatch ncbigene:5911 semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch UMLS:C1419269 semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:RAP2B semapv:UnspecifiedMatching OMIM:179541 RAP2B skos:exactMatch ncbigene:5912 semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:RAP2B semapv:UnspecifiedMatching OMIM:179541 RAP2B skos:exactMatch UMLS:C1419270 semapv:UnspecifiedMatching OMIM:179550 RALA skos:exactMatch UMLS:C0812284 semapv:UnspecifiedMatching OMIM:179550 RALA skos:exactMatch hgnc.symbol:RALA semapv:UnspecifiedMatching @@ -5224,63 +5224,63 @@ OMIM:179551 RALB skos:exactMatch hgnc.symbol:RALB semapv:UnspecifiedMatching OMIM:179551 RALB skos:exactMatch ncbigene:5899 semapv:UnspecifiedMatching OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:RSU1 semapv:UnspecifiedMatching OMIM:179555 RSU1 skos:exactMatch ncbigene:6251 semapv:UnspecifiedMatching -OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:PTPRF semapv:UnspecifiedMatching OMIM:179590 PTPRF skos:exactMatch ncbigene:5792 semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:PTPRF semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1826711 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C2675552 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C4016358 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:PRPH2 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C4551999 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:PRPH2 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch ncbigene:5961 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C2675552 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1826711 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching -OMIM:179610 EPHA1 skos:exactMatch ncbigene:2041 semapv:UnspecifiedMatching OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:EPHA1 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch ncbigene:2041 semapv:UnspecifiedMatching OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:EPHA3 semapv:UnspecifiedMatching OMIM:179611 EPHA3 skos:exactMatch ncbigene:2042 semapv:UnspecifiedMatching OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:RAG1 semapv:UnspecifiedMatching OMIM:179615 RAG1 skos:exactMatch ncbigene:5896 semapv:UnspecifiedMatching -OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:RAG2 semapv:UnspecifiedMatching OMIM:179616 RAG2 skos:exactMatch ncbigene:5897 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:RAG2 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch ncbigene:5888 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:RAD51 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C3281089 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C1419240 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C4016360 semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:RCVRN semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C1419240 semapv:UnspecifiedMatching OMIM:179618 RCVRN skos:exactMatch UMLS:C1419326 semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:RCVRN semapv:UnspecifiedMatching OMIM:179618 RCVRN skos:exactMatch ncbigene:5957 semapv:UnspecifiedMatching -OMIM:179710 RCC1 skos:exactMatch ncbigene:1104 semapv:UnspecifiedMatching OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:RCC1 semapv:UnspecifiedMatching -OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:RLN1 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch ncbigene:1104 semapv:UnspecifiedMatching OMIM:179730 RLN1 skos:exactMatch ncbigene:6013 semapv:UnspecifiedMatching -OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:RLN2 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:RLN1 semapv:UnspecifiedMatching OMIM:179740 RLN2 skos:exactMatch ncbigene:6019 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:RLN2 semapv:UnspecifiedMatching OMIM:179755 PRCC skos:exactMatch hgnc.symbol:PRCC semapv:UnspecifiedMatching OMIM:179755 PRCC skos:exactMatch ncbigene:5546 semapv:UnspecifiedMatching -OMIM:179780 DPEP1 skos:exactMatch ncbigene:1800 semapv:UnspecifiedMatching OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:DPEP1 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch ncbigene:1800 semapv:UnspecifiedMatching OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching -OMIM:179820 REN skos:exactMatch hgnc.symbol:REN semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching OMIM:179820 REN skos:exactMatch ncbigene:5972 semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch hgnc.symbol:REN semapv:UnspecifiedMatching OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:RPA1 semapv:UnspecifiedMatching OMIM:179835 RPA1 skos:exactMatch ncbigene:6117 semapv:UnspecifiedMatching OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:RPA2 semapv:UnspecifiedMatching OMIM:179836 RPA2 skos:exactMatch ncbigene:6118 semapv:UnspecifiedMatching -OMIM:179837 RPA3 skos:exactMatch ncbigene:6119 semapv:UnspecifiedMatching OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:RPA3 semapv:UnspecifiedMatching -OMIM:179838 CLIP1 skos:exactMatch ncbigene:6249 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch ncbigene:6119 semapv:UnspecifiedMatching OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:CLIP1 semapv:UnspecifiedMatching -OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch ncbigene:6249 semapv:UnspecifiedMatching OMIM:180040 RD3 skos:exactMatch ncbigene:343035 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C1419622 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C3151086 semapv:UnspecifiedMatching @@ -5305,8 +5305,8 @@ OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:RLBP1 semapv:UnspecifiedMatching OMIM:180090 RLBP1 skos:exactMatch ncbigene:6017 semapv:UnspecifiedMatching OMIM:180190 RARG skos:exactMatch hgnc.symbol:RARG semapv:UnspecifiedMatching OMIM:180190 RARG skos:exactMatch ncbigene:5916 semapv:UnspecifiedMatching -OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:ARID4A semapv:UnspecifiedMatching OMIM:180201 ARID4A skos:exactMatch ncbigene:5926 semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:ARID4A semapv:UnspecifiedMatching OMIM:180202 KDM5A skos:exactMatch ncbigene:5927 semapv:UnspecifiedMatching OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:KDM5A semapv:UnspecifiedMatching OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:RBL2 semapv:UnspecifiedMatching @@ -5317,83 +5317,83 @@ OMIM:180220 RARB skos:exactMatch hgnc.symbol:RARB semapv:UnspecifiedMatching OMIM:180220 RARB skos:exactMatch ncbigene:5915 semapv:UnspecifiedMatching OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:CRABP1 semapv:UnspecifiedMatching OMIM:180230 CRABP1 skos:exactMatch ncbigene:1381 semapv:UnspecifiedMatching -OMIM:180231 CRABP2 skos:exactMatch ncbigene:1382 semapv:UnspecifiedMatching OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:CRABP2 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch ncbigene:1382 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch UMLS:C1366536 semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch hgnc.symbol:RARA semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch UMLS:C1366536 semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch ncbigene:5914 semapv:UnspecifiedMatching -OMIM:180245 RXRA skos:exactMatch ncbigene:6256 semapv:UnspecifiedMatching OMIM:180245 RXRA skos:exactMatch hgnc.symbol:RXRA semapv:UnspecifiedMatching -OMIM:180246 RXRB skos:exactMatch ncbigene:6257 semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch ncbigene:6256 semapv:UnspecifiedMatching OMIM:180246 RXRB skos:exactMatch hgnc.symbol:RXRB semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch ncbigene:6257 semapv:UnspecifiedMatching OMIM:180247 RXRG skos:exactMatch hgnc.symbol:RXRG semapv:UnspecifiedMatching OMIM:180247 RXRG skos:exactMatch ncbigene:6258 semapv:UnspecifiedMatching OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:RBP4 semapv:UnspecifiedMatching OMIM:180250 RBP4 skos:exactMatch ncbigene:5950 semapv:UnspecifiedMatching -OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:RBP1 semapv:UnspecifiedMatching OMIM:180260 RBP1 skos:exactMatch ncbigene:5947 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:RBP1 semapv:UnspecifiedMatching OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:RBP2 semapv:UnspecifiedMatching OMIM:180280 RBP2 skos:exactMatch ncbigene:5948 semapv:UnspecifiedMatching -OMIM:180290 RBP3 skos:exactMatch ncbigene:5949 semapv:UnspecifiedMatching OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:RBP3 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch ncbigene:5949 semapv:UnspecifiedMatching OMIM:180297 RHAG skos:exactMatch hgnc.symbol:RHAG semapv:UnspecifiedMatching OMIM:180297 RHAG skos:exactMatch ncbigene:6005 semapv:UnspecifiedMatching OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:180370 TST skos:exactMatch hgnc.symbol:TST semapv:UnspecifiedMatching OMIM:180370 TST skos:exactMatch ncbigene:7263 semapv:UnspecifiedMatching -OMIM:180380 RHO skos:exactMatch ncbigene:6010 semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch hgnc.symbol:TST semapv:UnspecifiedMatching OMIM:180380 RHO skos:exactMatch hgnc.symbol:RHO semapv:UnspecifiedMatching -OMIM:180381 GRK1 skos:exactMatch ncbigene:6011 semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch ncbigene:6010 semapv:UnspecifiedMatching OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:GRK1 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch ncbigene:6011 semapv:UnspecifiedMatching OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:LMO2 semapv:UnspecifiedMatching OMIM:180385 LMO2 skos:exactMatch ncbigene:4005 semapv:UnspecifiedMatching OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:LMO3 semapv:UnspecifiedMatching OMIM:180386 LMO3 skos:exactMatch ncbigene:55885 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch UMLS:C1335649 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:RRM2 semapv:UnspecifiedMatching OMIM:180390 RRM2 skos:exactMatch ncbigene:6241 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch ncbigene:6240 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:RRM1 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:RRM2 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch UMLS:C1335649 semapv:UnspecifiedMatching OMIM:180410 RRM1 skos:exactMatch UMLS:C1335648 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:RRM1 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch ncbigene:6240 semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch UMLS:C1419625 semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch hgnc.symbol:RPIA semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch ncbigene:22934 semapv:UnspecifiedMatching OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:RNASEL semapv:UnspecifiedMatching OMIM:180435 RNASEL skos:exactMatch ncbigene:6041 semapv:UnspecifiedMatching -OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:RNASE1 semapv:UnspecifiedMatching OMIM:180440 RNASE1 skos:exactMatch ncbigene:6035 semapv:UnspecifiedMatching -OMIM:180450 RNR1 skos:exactMatch ncbigene:6052 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:RNASE1 semapv:UnspecifiedMatching OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:RNR1 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch ncbigene:6052 semapv:UnspecifiedMatching OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:RNR2 semapv:UnspecifiedMatching OMIM:180451 RNR2 skos:exactMatch ncbigene:6053 semapv:UnspecifiedMatching OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:RNR3 semapv:UnspecifiedMatching OMIM:180452 RNR3 skos:exactMatch ncbigene:6054 semapv:UnspecifiedMatching OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:RNR4 semapv:UnspecifiedMatching OMIM:180453 RNR4 skos:exactMatch ncbigene:6055 semapv:UnspecifiedMatching -OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:RNR5 semapv:UnspecifiedMatching OMIM:180454 RNR5 skos:exactMatch ncbigene:6056 semapv:UnspecifiedMatching -OMIM:180460 RPS6 skos:exactMatch ncbigene:6194 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:RNR5 semapv:UnspecifiedMatching OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:RPS6 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch ncbigene:6194 semapv:UnspecifiedMatching OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:RPS20P3 semapv:UnspecifiedMatching OMIM:180463 RPS20A skos:exactMatch ncbigene:6225 semapv:UnspecifiedMatching OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:RPS20P4 semapv:UnspecifiedMatching OMIM:180464 RPS20B skos:exactMatch ncbigene:6226 semapv:UnspecifiedMatching OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:RPS25 semapv:UnspecifiedMatching OMIM:180465 RPS25 skos:exactMatch ncbigene:6230 semapv:UnspecifiedMatching -OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:RPL19 semapv:UnspecifiedMatching OMIM:180466 RPL19 skos:exactMatch ncbigene:6143 semapv:UnspecifiedMatching -OMIM:180467 RPL30 skos:exactMatch ncbigene:6156 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:RPL19 semapv:UnspecifiedMatching OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:RPL30 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch ncbigene:6156 semapv:UnspecifiedMatching OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:RPL35A semapv:UnspecifiedMatching OMIM:180468 RPL35A skos:exactMatch ncbigene:6165 semapv:UnspecifiedMatching OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:RPL36AL semapv:UnspecifiedMatching OMIM:180469 RPL36AL skos:exactMatch ncbigene:6166 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch ncbigene:6184 semapv:UnspecifiedMatching OMIM:180470 RPN1 skos:exactMatch UMLS:C1419697 semapv:UnspecifiedMatching OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:RPN1 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch ncbigene:6184 semapv:UnspecifiedMatching OMIM:180471 RPS11 skos:exactMatch ncbigene:6205 semapv:UnspecifiedMatching OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:RPS11 semapv:UnspecifiedMatching OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:RPS17 semapv:UnspecifiedMatching @@ -5404,16 +5404,16 @@ OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:RPL22 semapv:UnspecifiedMatching OMIM:180474 RPL22 skos:exactMatch ncbigene:6146 semapv:UnspecifiedMatching OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:RPL12 semapv:UnspecifiedMatching OMIM:180475 RPL12 skos:exactMatch ncbigene:6136 semapv:UnspecifiedMatching -OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:RPS13 semapv:UnspecifiedMatching OMIM:180476 RPS13 skos:exactMatch ncbigene:6207 semapv:UnspecifiedMatching -OMIM:180477 RPS21 skos:exactMatch ncbigene:6227 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:RPS13 semapv:UnspecifiedMatching OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:RPS21 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch ncbigene:6227 semapv:UnspecifiedMatching OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:RPS3A semapv:UnspecifiedMatching OMIM:180478 RPS3A skos:exactMatch ncbigene:6189 semapv:UnspecifiedMatching OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:RPL4 semapv:UnspecifiedMatching OMIM:180479 RPL4 skos:exactMatch ncbigene:6124 semapv:UnspecifiedMatching -OMIM:180480 RPE skos:exactMatch hgnc.symbol:RPE semapv:UnspecifiedMatching OMIM:180480 RPE skos:exactMatch ncbigene:6120 semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch hgnc.symbol:RPE semapv:UnspecifiedMatching OMIM:180490 RPN2 skos:exactMatch ncbigene:6185 semapv:UnspecifiedMatching OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:RPN2 semapv:UnspecifiedMatching OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:RPLP0 semapv:UnspecifiedMatching @@ -5433,29 +5433,29 @@ OMIM:180620 TRX-CAT2-1 skos:exactMatch ncbigene:7212 semapv:UnspecifiedMatching OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:TRX-CAT1-2 semapv:UnspecifiedMatching OMIM:180621 TRX-CAT1-2 skos:exactMatch ncbigene:7210 semapv:UnspecifiedMatching OMIM:180630 DDX5 skos:exactMatch ncbigene:1655 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:DDX5 semapv:UnspecifiedMatching OMIM:180630 DDX5 skos:exactMatch UMLS:C1413963 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch UMLS:C1421113 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:TRE-TTC3-1 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:DDX5 semapv:UnspecifiedMatching OMIM:180640 TRE-TTC3-1 skos:exactMatch ncbigene:7193 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:TRE-TTC3-1 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch UMLS:C1421113 semapv:UnspecifiedMatching OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:SNORA73A semapv:UnspecifiedMatching OMIM:180645 SNORA73A skos:exactMatch ncbigene:6080 semapv:UnspecifiedMatching OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:SNORA62 semapv:UnspecifiedMatching OMIM:180646 SNORA62 skos:exactMatch ncbigene:6044 semapv:UnspecifiedMatching -OMIM:180647 SNORA63 skos:exactMatch ncbigene:6043 semapv:UnspecifiedMatching OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:SNORA63 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch ncbigene:6043 semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch ncbigene:5430 semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:POLR2A semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch UMLS:C1335231 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:POLR2B semapv:UnspecifiedMatching OMIM:180661 POLR2B skos:exactMatch ncbigene:5431 semapv:UnspecifiedMatching OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:POLR2I semapv:UnspecifiedMatching OMIM:180662 POLR2I skos:exactMatch ncbigene:5438 semapv:UnspecifiedMatching OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:POLR2C semapv:UnspecifiedMatching OMIM:180663 POLR2C skos:exactMatch ncbigene:5432 semapv:UnspecifiedMatching -OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:POLR2E semapv:UnspecifiedMatching OMIM:180664 POLR2E skos:exactMatch ncbigene:5434 semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:POLR2E semapv:UnspecifiedMatching OMIM:180680 RNU1A skos:exactMatch ncbigene:6060 semapv:UnspecifiedMatching OMIM:180680 RNU1A skos:exactMatch UMLS:C1419475 semapv:UnspecifiedMatching OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:RNU1-4 semapv:UnspecifiedMatching @@ -5463,9 +5463,9 @@ OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:RNU2-1 semapv:UnspecifiedMatching OMIM:180690 RNU2-1 skos:exactMatch ncbigene:6066 semapv:UnspecifiedMatching OMIM:180691 RNU5A skos:exactMatch hgnc.symbol:RNU5A-1 semapv:UnspecifiedMatching OMIM:180691 RNU5A skos:exactMatch ncbigene:26831 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch ncbigene:26827 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:RNU6-1 semapv:UnspecifiedMatching OMIM:180692 RNU6-1 skos:exactMatch UMLS:C1419574 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:RNU6-1 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch ncbigene:26827 semapv:UnspecifiedMatching OMIM:180710 SNORD3A skos:exactMatch ncbigene:780851 semapv:UnspecifiedMatching OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:SNORD3A semapv:UnspecifiedMatching OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:ROM1 semapv:UnspecifiedMatching @@ -5475,9 +5475,10 @@ OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:SNRNP70 semapv:UnspecifiedMatchi OMIM:180740 SNRNP70 skos:exactMatch ncbigene:6625 semapv:UnspecifiedMatching OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching OMIM:180860 silver-russell syndrome 1 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch ncbigene:6261 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C4016368 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching @@ -5486,37 +5487,36 @@ OMIM:180901 RYR1 skos:exactMatch UMLS:C1840365 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C1419778 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch ncbigene:6261 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch ncbigene:6262 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C4016369 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:RYR2 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C1419779 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C1832931 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C1419779 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C4016369 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:RYR2 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch ncbigene:6262 semapv:UnspecifiedMatching OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:RYR3 semapv:UnspecifiedMatching OMIM:180903 RYR3 skos:exactMatch ncbigene:6263 semapv:UnspecifiedMatching OMIM:180950 salivary substance, clostridium botulinum iia skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching -OMIM:180960 AHCY skos:exactMatch hgnc.symbol:AHCY semapv:UnspecifiedMatching OMIM:180960 AHCY skos:exactMatch ncbigene:191 semapv:UnspecifiedMatching -OMIM:180980 AMD1 skos:exactMatch ncbigene:262 semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch hgnc.symbol:AHCY semapv:UnspecifiedMatching OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:AMD1 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch ncbigene:262 semapv:UnspecifiedMatching OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:PRB1 semapv:UnspecifiedMatching OMIM:180989 PRB1 skos:exactMatch ncbigene:5542 semapv:UnspecifiedMatching OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:PRB4 semapv:UnspecifiedMatching OMIM:180990 PRB4 skos:exactMatch ncbigene:5545 semapv:UnspecifiedMatching OMIM:181031 SAG skos:exactMatch hgnc.symbol:SAG semapv:UnspecifiedMatching OMIM:181031 SAG skos:exactMatch ncbigene:6295 semapv:UnspecifiedMatching -OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:TSPAN31 semapv:UnspecifiedMatching OMIM:181035 TSPAN31 skos:exactMatch ncbigene:6302 semapv:UnspecifiedMatching -OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:TSPAN31 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching +OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C1420065 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch hgnc.symbol:STIL semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch ncbigene:6491 semapv:UnspecifiedMatching OMIM:182090 SSAV1 skos:exactMatch ncbigene:6739 semapv:UnspecifiedMatching -OMIM:182098 SCTR skos:exactMatch hgnc.symbol:SCTR semapv:UnspecifiedMatching OMIM:182098 SCTR skos:exactMatch ncbigene:6344 semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch hgnc.symbol:SCTR semapv:UnspecifiedMatching OMIM:182099 SCT skos:exactMatch ncbigene:6343 semapv:UnspecifiedMatching OMIM:182099 SCT skos:exactMatch hgnc.symbol:SCT semapv:UnspecifiedMatching OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:FUT2 semapv:UnspecifiedMatching @@ -5527,158 +5527,158 @@ OMIM:182120 SPARC skos:exactMatch hgnc.symbol:SPARC semapv:UnspecifiedMatching OMIM:182120 SPARC skos:exactMatch ncbigene:6678 semapv:UnspecifiedMatching OMIM:182125 SPR skos:exactMatch hgnc.symbol:SPR semapv:UnspecifiedMatching OMIM:182125 SPR skos:exactMatch ncbigene:6697 semapv:UnspecifiedMatching -OMIM:182128 SDS skos:exactMatch hgnc.symbol:SDS semapv:UnspecifiedMatching OMIM:182128 SDS skos:exactMatch ncbigene:10993 semapv:UnspecifiedMatching -OMIM:182131 HTR1B skos:exactMatch ncbigene:3351 semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch hgnc.symbol:SDS semapv:UnspecifiedMatching OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:HTR1B semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch ncbigene:3351 semapv:UnspecifiedMatching OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:HTR1E semapv:UnspecifiedMatching OMIM:182132 HTR1E skos:exactMatch ncbigene:3354 semapv:UnspecifiedMatching OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:HTR1D semapv:UnspecifiedMatching OMIM:182133 HTR1D skos:exactMatch ncbigene:3352 semapv:UnspecifiedMatching -OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:HTR1F semapv:UnspecifiedMatching OMIM:182134 HTR1F skos:exactMatch ncbigene:3355 semapv:UnspecifiedMatching -OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:HTR2A semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:HTR1F semapv:UnspecifiedMatching OMIM:182135 HTR2A skos:exactMatch ncbigene:3356 semapv:UnspecifiedMatching -OMIM:182137 HTR7 skos:exactMatch ncbigene:3363 semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:HTR2A semapv:UnspecifiedMatching OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:HTR7 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch ncbigene:3363 semapv:UnspecifiedMatching OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:SLC6A4 semapv:UnspecifiedMatching OMIM:182138 SLC6A4 skos:exactMatch ncbigene:6532 semapv:UnspecifiedMatching OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:HTR3A semapv:UnspecifiedMatching OMIM:182139 HTR3A skos:exactMatch ncbigene:3359 semapv:UnspecifiedMatching OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:SEMG1 semapv:UnspecifiedMatching OMIM:182140 SEMG1 skos:exactMatch ncbigene:6406 semapv:UnspecifiedMatching -OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:SEMG2 semapv:UnspecifiedMatching OMIM:182141 SEMG2 skos:exactMatch ncbigene:6407 semapv:UnspecifiedMatching -OMIM:182144 SHMT1 skos:exactMatch ncbigene:6470 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:SEMG2 semapv:UnspecifiedMatching OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:SHMT1 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch ncbigene:6470 semapv:UnspecifiedMatching OMIM:182160 SPN skos:exactMatch hgnc.symbol:SPN semapv:UnspecifiedMatching OMIM:182160 SPN skos:exactMatch ncbigene:6693 semapv:UnspecifiedMatching OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:SRP19 semapv:UnspecifiedMatching OMIM:182175 SRP19 skos:exactMatch ncbigene:6728 semapv:UnspecifiedMatching OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:SRPRA semapv:UnspecifiedMatching OMIM:182180 SRPRA skos:exactMatch ncbigene:6734 semapv:UnspecifiedMatching -OMIM:182205 SHBG skos:exactMatch hgnc.symbol:SHBG semapv:UnspecifiedMatching OMIM:182205 SHBG skos:exactMatch ncbigene:6462 semapv:UnspecifiedMatching -OMIM:182257 PI3 skos:exactMatch ncbigene:5266 semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch hgnc.symbol:SHBG semapv:UnspecifiedMatching OMIM:182257 PI3 skos:exactMatch hgnc.symbol:PI3 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch ncbigene:5266 semapv:UnspecifiedMatching OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:SPRR1A semapv:UnspecifiedMatching OMIM:182265 SPRR1A skos:exactMatch ncbigene:6698 semapv:UnspecifiedMatching OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:SPRR1B semapv:UnspecifiedMatching OMIM:182266 SPRR1B skos:exactMatch ncbigene:6699 semapv:UnspecifiedMatching -OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:SPRR2A semapv:UnspecifiedMatching OMIM:182267 SPRR2A skos:exactMatch ncbigene:6700 semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:SPRR2A semapv:UnspecifiedMatching OMIM:182268 SPRR2B skos:exactMatch ncbigene:6701 semapv:UnspecifiedMatching OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:SPRR2B semapv:UnspecifiedMatching OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:SPRR2C semapv:UnspecifiedMatching OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:SPRR3 semapv:UnspecifiedMatching OMIM:182271 SPRR3 skos:exactMatch ncbigene:6707 semapv:UnspecifiedMatching -OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:SNRPN semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:CCL1 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch ncbigene:6346 semapv:UnspecifiedMatching OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:SNRPB semapv:UnspecifiedMatching OMIM:182282 SNRPB skos:exactMatch ncbigene:6628 semapv:UnspecifiedMatching -OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:CCL3 semapv:UnspecifiedMatching OMIM:182283 CCL3 skos:exactMatch ncbigene:6348 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:CCL3 semapv:UnspecifiedMatching OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:CCL4 semapv:UnspecifiedMatching OMIM:182284 CCL4 skos:exactMatch ncbigene:6351 semapv:UnspecifiedMatching -OMIM:182285 SNRPA skos:exactMatch ncbigene:6626 semapv:UnspecifiedMatching OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:SNRPA semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch ncbigene:6626 semapv:UnspecifiedMatching OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:SLC8A1 semapv:UnspecifiedMatching OMIM:182305 SLC8A1 skos:exactMatch ncbigene:6546 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch UMLS:C1420234 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:SLC9A3 semapv:UnspecifiedMatching OMIM:182307 SLC9A3 skos:exactMatch ncbigene:6550 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:SLC9A3 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch UMLS:C1420234 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:SLC17A1 semapv:UnspecifiedMatching OMIM:182308 SLC17A1 skos:exactMatch ncbigene:6568 semapv:UnspecifiedMatching -OMIM:182309 SLC34A1 skos:exactMatch ncbigene:6569 semapv:UnspecifiedMatching OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:SLC34A1 semapv:UnspecifiedMatching -OMIM:182310 ATP1A1 skos:exactMatch ncbigene:476 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch ncbigene:6569 semapv:UnspecifiedMatching OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:ATP1A1 semapv:UnspecifiedMatching -OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:ATP1B1 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch ncbigene:476 semapv:UnspecifiedMatching OMIM:182330 ATP1B1 skos:exactMatch ncbigene:481 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:ATP1B1 semapv:UnspecifiedMatching OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:ATP1B2 semapv:UnspecifiedMatching OMIM:182331 ATP1B2 skos:exactMatch ncbigene:482 semapv:UnspecifiedMatching OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:ATP1A2 semapv:UnspecifiedMatching OMIM:182340 ATP1A2 skos:exactMatch ncbigene:477 semapv:UnspecifiedMatching OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:ATP1A3 semapv:UnspecifiedMatching OMIM:182350 ATP1A3 skos:exactMatch ncbigene:478 semapv:UnspecifiedMatching -OMIM:182360 ATP12A skos:exactMatch ncbigene:479 semapv:UnspecifiedMatching OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:ATP12A semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch ncbigene:479 semapv:UnspecifiedMatching OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:SLC5A1 semapv:UnspecifiedMatching OMIM:182380 SLC5A1 skos:exactMatch ncbigene:6523 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:SLC5A2 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C1420201 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C4016376 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:SLC5A2 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch ncbigene:6524 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C1419856 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:SCN1A semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch ncbigene:6323 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C4016377 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C1419856 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C1419858 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:SCN2A semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch ncbigene:6326 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch UMLS:C1419861 semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:SCN3A semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch ncbigene:6328 semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch ncbigene:6332 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:SCN3A semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch UMLS:C1419861 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching OMIM:182392 SCN7A skos:exactMatch UMLS:C1419865 semapv:UnspecifiedMatching OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:SCN7A semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch ncbigene:6332 semapv:UnspecifiedMatching OMIM:182396 SLC10A1 skos:exactMatch ncbigene:6554 semapv:UnspecifiedMatching OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:SLC10A1 semapv:UnspecifiedMatching -OMIM:182450 SST skos:exactMatch hgnc.symbol:SST semapv:UnspecifiedMatching OMIM:182450 SST skos:exactMatch ncbigene:6750 semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch hgnc.symbol:SST semapv:UnspecifiedMatching OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:SSTR1 semapv:UnspecifiedMatching OMIM:182451 SSTR1 skos:exactMatch ncbigene:6751 semapv:UnspecifiedMatching OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:SSTR2 semapv:UnspecifiedMatching OMIM:182452 SSTR2 skos:exactMatch ncbigene:6752 semapv:UnspecifiedMatching OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:SSTR3 semapv:UnspecifiedMatching OMIM:182453 SSTR3 skos:exactMatch ncbigene:6753 semapv:UnspecifiedMatching -OMIM:182454 SSTR4 skos:exactMatch ncbigene:6754 semapv:UnspecifiedMatching OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:SSTR4 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch UMLS:C1335870 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch UMLS:C5436944 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:SSTR5 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch ncbigene:6754 semapv:UnspecifiedMatching OMIM:182455 SSTR5 skos:exactMatch ncbigene:6755 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:SSTR5 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch UMLS:C5436944 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch UMLS:C1335870 semapv:UnspecifiedMatching OMIM:182465 SON skos:exactMatch hgnc.symbol:SON semapv:UnspecifiedMatching OMIM:182465 SON skos:exactMatch ncbigene:6651 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch UMLS:C1420311 semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch hgnc.symbol:SORD semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch UMLS:C1420311 semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch ncbigene:6652 semapv:UnspecifiedMatching -OMIM:182520 SRI skos:exactMatch ncbigene:6717 semapv:UnspecifiedMatching OMIM:182520 SRI skos:exactMatch hgnc.symbol:SRI semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch UMLS:C1420314 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch ncbigene:6717 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch ncbigene:6654 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:SOS1 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch ncbigene:6654 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch UMLS:C1420314 semapv:UnspecifiedMatching OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:TFF2 semapv:UnspecifiedMatching OMIM:182590 TFF2 skos:exactMatch ncbigene:7032 semapv:UnspecifiedMatching OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching -OMIM:182790 SPTBN1 skos:exactMatch ncbigene:6711 semapv:UnspecifiedMatching OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:SPTBN1 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch ncbigene:6711 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C1420386 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:SPTAN1 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch ncbigene:6709 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch ncbigene:6708 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:SPTA1 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310961 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310960 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch ncbigene:6708 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C1420385 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C0520739 semapv:UnspecifiedMatching @@ -5687,351 +5687,351 @@ OMIM:182870 SPTB skos:exactMatch hgnc.symbol:SPTB semapv:UnspecifiedMatching OMIM:182870 SPTB skos:exactMatch ncbigene:6710 semapv:UnspecifiedMatching OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:ODF1 semapv:UnspecifiedMatching OMIM:182878 ODF1 skos:exactMatch ncbigene:4956 semapv:UnspecifiedMatching -OMIM:182880 PRM1 skos:exactMatch ncbigene:5619 semapv:UnspecifiedMatching OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:PRM1 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch ncbigene:5619 semapv:UnspecifiedMatching OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:ZP2 semapv:UnspecifiedMatching OMIM:182888 ZP2 skos:exactMatch ncbigene:7783 semapv:UnspecifiedMatching -OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:ZP3 semapv:UnspecifiedMatching OMIM:182889 ZP3 skos:exactMatch ncbigene:7784 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:ZP3 semapv:UnspecifiedMatching OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:PRM2 semapv:UnspecifiedMatching OMIM:182890 PRM2 skos:exactMatch ncbigene:5620 semapv:UnspecifiedMatching OMIM:182891 SRM skos:exactMatch hgnc.symbol:SRM semapv:UnspecifiedMatching OMIM:182891 SRM skos:exactMatch ncbigene:6723 semapv:UnspecifiedMatching -OMIM:182920 myopathy, spheroid body skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching -OMIM:182920 myopathy, spheroid body skos:exactMatch UMLS:C1866785 semapv:UnspecifiedMatching +OMIM:182920 skos:exactMatch UMLS:C1866785 semapv:UnspecifiedMatching +OMIM:182920 skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching OMIM:182960 neuronopathy, distal hereditary motor, iia 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching OMIM:182960 neuronopathy, distal hereditary motor, iia 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching OMIM:183600 split-hand/foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching OMIM:183600 split-hand/foot malformation 1 skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching -OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:FDFT1 semapv:UnspecifiedMatching OMIM:184420 FDFT1 skos:exactMatch ncbigene:2222 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch ncbigene:6657 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch UMLS:C1859774 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:SOX2 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:FDFT1 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch UMLS:C1420322 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch UMLS:C1859773 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch UMLS:C1859774 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:SOX2 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch ncbigene:6657 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch UMLS:C1420327 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch UMLS:C4760583 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:SOX4 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch ncbigene:6659 semapv:UnspecifiedMatching -OMIM:184470 STATH skos:exactMatch hgnc.symbol:STATH semapv:UnspecifiedMatching OMIM:184470 STATH skos:exactMatch ncbigene:6779 semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch hgnc.symbol:STATH semapv:UnspecifiedMatching OMIM:184600 CSTA skos:exactMatch hgnc.symbol:CSTA semapv:UnspecifiedMatching OMIM:184600 CSTA skos:exactMatch ncbigene:1475 semapv:UnspecifiedMatching -OMIM:184745 KITLG skos:exactMatch ncbigene:4254 semapv:UnspecifiedMatching OMIM:184745 KITLG skos:exactMatch hgnc.symbol:KITLG semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch ncbigene:4254 semapv:UnspecifiedMatching OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:SRD5A1 semapv:UnspecifiedMatching OMIM:184753 SRD5A1 skos:exactMatch ncbigene:6715 semapv:UnspecifiedMatching OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:SCP2 semapv:UnspecifiedMatching OMIM:184755 SCP2 skos:exactMatch ncbigene:6342 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:SREBF1 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch ncbigene:6720 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:SREBF1 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch UMLS:C1420398 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:NR5A1 semapv:UnspecifiedMatching OMIM:184757 NR5A1 skos:exactMatch ncbigene:2516 semapv:UnspecifiedMatching OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:MMP3 semapv:UnspecifiedMatching OMIM:185250 MMP3 skos:exactMatch ncbigene:4314 semapv:UnspecifiedMatching OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:MMP10 semapv:UnspecifiedMatching OMIM:185260 MMP10 skos:exactMatch ncbigene:4319 semapv:UnspecifiedMatching -OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:MMP11 semapv:UnspecifiedMatching OMIM:185261 MMP11 skos:exactMatch ncbigene:4320 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:MMP11 semapv:UnspecifiedMatching OMIM:185300 sturge-weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching OMIM:185300 sturge-weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching -OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching OMIM:185430 CLU skos:exactMatch hgnc.symbol:CLU semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching OMIM:185440 ST2 skos:exactMatch ncbigene:6761 semapv:UnspecifiedMatching OMIM:185470 SDHB skos:exactMatch hgnc.symbol:SDHB semapv:UnspecifiedMatching OMIM:185470 SDHB skos:exactMatch ncbigene:6390 semapv:UnspecifiedMatching -OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:SOD3 semapv:UnspecifiedMatching OMIM:185490 SOD3 skos:exactMatch ncbigene:6649 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:SOD3 semapv:UnspecifiedMatching OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:EPCAM semapv:UnspecifiedMatching OMIM:185535 EPCAM skos:exactMatch ncbigene:4072 semapv:UnspecifiedMatching -OMIM:185605 SYT1 skos:exactMatch ncbigene:6857 semapv:UnspecifiedMatching OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:SYT1 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch ncbigene:6857 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C1420527 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C4225246 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:SURF1 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch ncbigene:6834 semapv:UnspecifiedMatching -OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:SURF2 semapv:UnspecifiedMatching OMIM:185630 SURF2 skos:exactMatch ncbigene:6835 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:SURF2 semapv:UnspecifiedMatching OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:RPL7A semapv:UnspecifiedMatching OMIM:185640 RPL7A skos:exactMatch ncbigene:6130 semapv:UnspecifiedMatching -OMIM:185641 MED22 skos:exactMatch ncbigene:6837 semapv:UnspecifiedMatching OMIM:185641 MED22 skos:exactMatch hgnc.symbol:MED22 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch ncbigene:6837 semapv:UnspecifiedMatching OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:SURF6 semapv:UnspecifiedMatching OMIM:185642 SURF6 skos:exactMatch ncbigene:6838 semapv:UnspecifiedMatching OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:SURF4 semapv:UnspecifiedMatching OMIM:185660 SURF4 skos:exactMatch ncbigene:6836 semapv:UnspecifiedMatching -OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching -OMIM:185860 SV2A skos:exactMatch ncbigene:9900 semapv:UnspecifiedMatching +OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching OMIM:185860 SV2A skos:exactMatch hgnc.symbol:SV2A semapv:UnspecifiedMatching -OMIM:185861 SV2B skos:exactMatch ncbigene:9899 semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch ncbigene:9900 semapv:UnspecifiedMatching OMIM:185861 SV2B skos:exactMatch hgnc.symbol:SV2B semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch ncbigene:9899 semapv:UnspecifiedMatching OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:VAMP1 semapv:UnspecifiedMatching OMIM:185880 VAMP1 skos:exactMatch ncbigene:6843 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch ncbigene:6844 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:VAMP2 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch UMLS:C1421419 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231518 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231519 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch ncbigene:6844 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231518 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch UMLS:C1421419 semapv:UnspecifiedMatching OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching -OMIM:186100 syndactyly, iia 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching OMIM:186100 syndactyly, iia 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching +OMIM:186100 syndactyly, iia 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:SDC1 semapv:UnspecifiedMatching OMIM:186355 SDC1 skos:exactMatch ncbigene:6382 semapv:UnspecifiedMatching -OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:SDC3 semapv:UnspecifiedMatching OMIM:186357 SDC3 skos:exactMatch ncbigene:9672 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:SDC3 semapv:UnspecifiedMatching OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:ANXA7 semapv:UnspecifiedMatching OMIM:186360 ANXA7 skos:exactMatch ncbigene:310 semapv:UnspecifiedMatching OMIM:186590 STX1A skos:exactMatch hgnc.symbol:STX1A semapv:UnspecifiedMatching OMIM:186590 STX1A skos:exactMatch ncbigene:6804 semapv:UnspecifiedMatching -OMIM:186591 STX4 skos:exactMatch ncbigene:6810 semapv:UnspecifiedMatching OMIM:186591 STX4 skos:exactMatch hgnc.symbol:STX4 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch ncbigene:6810 semapv:UnspecifiedMatching OMIM:186711 CD27 skos:exactMatch hgnc.symbol:CD27 semapv:UnspecifiedMatching OMIM:186711 CD27 skos:exactMatch ncbigene:939 semapv:UnspecifiedMatching -OMIM:186720 CD6 skos:exactMatch hgnc.symbol:CD6 semapv:UnspecifiedMatching OMIM:186720 CD6 skos:exactMatch ncbigene:923 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch hgnc.symbol:CD6 semapv:UnspecifiedMatching OMIM:186730 CD8B skos:exactMatch hgnc.symbol:CD8B semapv:UnspecifiedMatching OMIM:186730 CD8B skos:exactMatch ncbigene:926 semapv:UnspecifiedMatching -OMIM:186740 CD3G skos:exactMatch ncbigene:917 semapv:UnspecifiedMatching OMIM:186740 CD3G skos:exactMatch hgnc.symbol:CD3G semapv:UnspecifiedMatching -OMIM:186745 TLN1 skos:exactMatch ncbigene:7094 semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch ncbigene:917 semapv:UnspecifiedMatching OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:TLN1 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch ncbigene:7094 semapv:UnspecifiedMatching OMIM:186760 CD28 skos:exactMatch hgnc.symbol:CD28 semapv:UnspecifiedMatching OMIM:186760 CD28 skos:exactMatch ncbigene:940 semapv:UnspecifiedMatching -OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:TLX1 semapv:UnspecifiedMatching OMIM:186770 TLX1 skos:exactMatch ncbigene:3195 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:TLX1 semapv:UnspecifiedMatching OMIM:186780 CD247 skos:exactMatch hgnc.symbol:CD247 semapv:UnspecifiedMatching OMIM:186780 CD247 skos:exactMatch ncbigene:919 semapv:UnspecifiedMatching OMIM:186790 CD3D skos:exactMatch hgnc.symbol:CD3D semapv:UnspecifiedMatching OMIM:186790 CD3D skos:exactMatch ncbigene:915 semapv:UnspecifiedMatching -OMIM:186810 TRDC skos:exactMatch ncbigene:28526 semapv:UnspecifiedMatching OMIM:186810 TRDC skos:exactMatch hgnc.symbol:TRDC semapv:UnspecifiedMatching -OMIM:186820 CD7 skos:exactMatch hgnc.symbol:CD7 semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch ncbigene:28526 semapv:UnspecifiedMatching OMIM:186820 CD7 skos:exactMatch ncbigene:924 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch hgnc.symbol:CD7 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C1332711 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C3810127 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C3810128 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch hgnc.symbol:CD3E semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch ncbigene:916 semapv:UnspecifiedMatching -OMIM:186845 CD81 skos:exactMatch ncbigene:975 semapv:UnspecifiedMatching OMIM:186845 CD81 skos:exactMatch hgnc.symbol:CD81 semapv:UnspecifiedMatching -OMIM:186852 PSMC3 skos:exactMatch ncbigene:5702 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch ncbigene:975 semapv:UnspecifiedMatching OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:PSMC3 semapv:UnspecifiedMatching -OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:SLC6A6 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch ncbigene:5702 semapv:UnspecifiedMatching OMIM:186854 SLC6A6 skos:exactMatch ncbigene:6533 semapv:UnspecifiedMatching -OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:TAL2 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:SLC6A6 semapv:UnspecifiedMatching OMIM:186855 TAL2 skos:exactMatch ncbigene:6887 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:TAL2 semapv:UnspecifiedMatching OMIM:186860 TCL4 skos:exactMatch ncbigene:6946 semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch UMLS:C1420886 semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch UMLS:C3809332 semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch hgnc.symbol:TRAC semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch ncbigene:28755 semapv:UnspecifiedMatching -OMIM:186910 CD8A skos:exactMatch ncbigene:925 semapv:UnspecifiedMatching OMIM:186910 CD8A skos:exactMatch hgnc.symbol:CD8A semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch ncbigene:925 semapv:UnspecifiedMatching OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:LMO1 semapv:UnspecifiedMatching OMIM:186921 LMO1 skos:exactMatch ncbigene:4004 semapv:UnspecifiedMatching -OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:TRBC1 semapv:UnspecifiedMatching OMIM:186930 TRBC1 skos:exactMatch ncbigene:28639 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:TRBC1 semapv:UnspecifiedMatching OMIM:186940 CD4 skos:exactMatch hgnc.symbol:CD4 semapv:UnspecifiedMatching OMIM:186940 CD4 skos:exactMatch ncbigene:920 semapv:UnspecifiedMatching OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:FKBP1A semapv:UnspecifiedMatching OMIM:186945 FKBP1A skos:exactMatch ncbigene:2280 semapv:UnspecifiedMatching -OMIM:186946 FKBP2 skos:exactMatch ncbigene:2286 semapv:UnspecifiedMatching OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:FKBP2 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch ncbigene:2286 semapv:UnspecifiedMatching OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:FKBP3 semapv:UnspecifiedMatching OMIM:186947 FKBP3 skos:exactMatch ncbigene:2287 semapv:UnspecifiedMatching -OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:TCL1A semapv:UnspecifiedMatching OMIM:186960 TCL1A skos:exactMatch ncbigene:8115 semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:TCL1A semapv:UnspecifiedMatching OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:TRGC1 semapv:UnspecifiedMatching OMIM:186970 TRGC1 skos:exactMatch ncbigene:6966 semapv:UnspecifiedMatching -OMIM:186973 ITK skos:exactMatch ncbigene:3702 semapv:UnspecifiedMatching OMIM:186973 ITK skos:exactMatch hgnc.symbol:ITK semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch ncbigene:202500 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:TCTE1 semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch ncbigene:3702 semapv:UnspecifiedMatching OMIM:186975 TCTE1 skos:exactMatch UMLS:C1420661 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:TCTE1 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch ncbigene:202500 semapv:UnspecifiedMatching OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:DYNLT2 semapv:UnspecifiedMatching OMIM:186977 TCTE3 skos:exactMatch ncbigene:6991 semapv:UnspecifiedMatching -OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:TCP1 semapv:UnspecifiedMatching OMIM:186980 TCP1 skos:exactMatch ncbigene:6950 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:TCP1 semapv:UnspecifiedMatching OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:TCP11 semapv:UnspecifiedMatching OMIM:186982 TCP11 skos:exactMatch ncbigene:6954 semapv:UnspecifiedMatching -OMIM:186990 CD2 skos:exactMatch ncbigene:914 semapv:UnspecifiedMatching OMIM:186990 CD2 skos:exactMatch hgnc.symbol:CD2 semapv:UnspecifiedMatching -OMIM:187011 CCL5 skos:exactMatch ncbigene:6352 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch ncbigene:914 semapv:UnspecifiedMatching OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:CCL5 semapv:UnspecifiedMatching -OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:TCP10L3 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch ncbigene:6352 semapv:UnspecifiedMatching OMIM:187020 TCP10 skos:exactMatch ncbigene:6953 semapv:UnspecifiedMatching -OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:TAL1 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:TCP10L3 semapv:UnspecifiedMatching OMIM:187040 TAL1 skos:exactMatch ncbigene:6886 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:TAL1 semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch hgnc.symbol:TERT semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch ncbigene:7015 semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:POLR3D semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch ncbigene:661 semapv:UnspecifiedMatching -OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:TDGF1 semapv:UnspecifiedMatching OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching -OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching OMIM:187410 DNTT skos:exactMatch ncbigene:1791 semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:CRISP2 semapv:UnspecifiedMatching OMIM:187430 CRISP2 skos:exactMatch ncbigene:7180 semapv:UnspecifiedMatching OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:CLEC3B semapv:UnspecifiedMatching OMIM:187520 CLEC3B skos:exactMatch ncbigene:7123 semapv:UnspecifiedMatching -OMIM:187680 TPMT skos:exactMatch ncbigene:7172 semapv:UnspecifiedMatching OMIM:187680 TPMT skos:exactMatch hgnc.symbol:TPMT semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch ncbigene:7172 semapv:UnspecifiedMatching OMIM:187700 TXN skos:exactMatch hgnc.symbol:TXN semapv:UnspecifiedMatching OMIM:187700 TXN skos:exactMatch ncbigene:7295 semapv:UnspecifiedMatching -OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:TARS1 semapv:UnspecifiedMatching OMIM:187790 TARS1 skos:exactMatch ncbigene:6897 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:TARS1 semapv:UnspecifiedMatching OMIM:187930 F2R skos:exactMatch hgnc.symbol:F2R semapv:UnspecifiedMatching OMIM:187930 F2R skos:exactMatch ncbigene:2149 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching OMIM:187950 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching -OMIM:188035 PPBPL1 skos:exactMatch ncbigene:728045 semapv:UnspecifiedMatching OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:PPBPP1 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch ncbigene:728045 semapv:UnspecifiedMatching OMIM:188040 THBD skos:exactMatch hgnc.symbol:THBD semapv:UnspecifiedMatching OMIM:188040 THBD skos:exactMatch ncbigene:7056 semapv:UnspecifiedMatching -OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:THBS1 semapv:UnspecifiedMatching OMIM:188060 THBS1 skos:exactMatch ncbigene:7057 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:THBS1 semapv:UnspecifiedMatching OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:THBS2 semapv:UnspecifiedMatching OMIM:188061 THBS2 skos:exactMatch ncbigene:7058 semapv:UnspecifiedMatching -OMIM:188062 THBS3 skos:exactMatch ncbigene:7059 semapv:UnspecifiedMatching OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:THBS3 semapv:UnspecifiedMatching -OMIM:188070 TBXA2R skos:exactMatch ncbigene:6915 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch ncbigene:7059 semapv:UnspecifiedMatching OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:TBXA2R semapv:UnspecifiedMatching -OMIM:188230 THY1 skos:exactMatch hgnc.symbol:THY1 semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch ncbigene:6915 semapv:UnspecifiedMatching OMIM:188230 THY1 skos:exactMatch ncbigene:7070 semapv:UnspecifiedMatching -OMIM:188250 TK2 skos:exactMatch hgnc.symbol:TK2 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch hgnc.symbol:THY1 semapv:UnspecifiedMatching OMIM:188250 TK2 skos:exactMatch ncbigene:7084 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch hgnc.symbol:TK2 semapv:UnspecifiedMatching OMIM:188300 TK1 skos:exactMatch hgnc.symbol:TK1 semapv:UnspecifiedMatching OMIM:188300 TK1 skos:exactMatch ncbigene:7083 semapv:UnspecifiedMatching OMIM:188340 CD1C skos:exactMatch hgnc.symbol:CD1C semapv:UnspecifiedMatching OMIM:188340 CD1C skos:exactMatch ncbigene:911 semapv:UnspecifiedMatching -OMIM:188345 DTYMK skos:exactMatch ncbigene:1841 semapv:UnspecifiedMatching OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:DTYMK semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch ncbigene:1841 semapv:UnspecifiedMatching OMIM:188350 TYMS skos:exactMatch hgnc.symbol:TYMS semapv:UnspecifiedMatching OMIM:188350 TYMS skos:exactMatch ncbigene:7298 semapv:UnspecifiedMatching -OMIM:188360 CD1B skos:exactMatch hgnc.symbol:CD1B semapv:UnspecifiedMatching OMIM:188360 CD1B skos:exactMatch ncbigene:910 semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch hgnc.symbol:CD1B semapv:UnspecifiedMatching OMIM:188370 CD1A skos:exactMatch hgnc.symbol:CD1A semapv:UnspecifiedMatching OMIM:188370 CD1A skos:exactMatch ncbigene:909 semapv:UnspecifiedMatching OMIM:188380 TMPO skos:exactMatch hgnc.symbol:TMPO semapv:UnspecifiedMatching OMIM:188380 TMPO skos:exactMatch ncbigene:7112 semapv:UnspecifiedMatching -OMIM:188390 PTMA skos:exactMatch ncbigene:5757 semapv:UnspecifiedMatching OMIM:188390 PTMA skos:exactMatch hgnc.symbol:PTMA semapv:UnspecifiedMatching -OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:TMSB10 semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch ncbigene:5757 semapv:UnspecifiedMatching OMIM:188399 TMSB10 skos:exactMatch ncbigene:9168 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C1414025 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:TMSB10 semapv:UnspecifiedMatching OMIM:188400 digeorge syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C1414025 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching OMIM:188410 CD1D skos:exactMatch hgnc.symbol:CD1D semapv:UnspecifiedMatching OMIM:188410 CD1D skos:exactMatch ncbigene:912 semapv:UnspecifiedMatching OMIM:188411 CD1E skos:exactMatch hgnc.symbol:CD1E semapv:UnspecifiedMatching OMIM:188411 CD1E skos:exactMatch ncbigene:913 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch ncbigene:7038 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch hgnc.symbol:TG semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch hgnc.symbol:TG semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C1420709 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C1842444 semapv:UnspecifiedMatching OMIM:188540 TSHB skos:exactMatch hgnc.symbol:TSHB semapv:UnspecifiedMatching OMIM:188540 TSHB skos:exactMatch ncbigene:7252 semapv:UnspecifiedMatching -OMIM:188545 TRHR skos:exactMatch ncbigene:7201 semapv:UnspecifiedMatching OMIM:188545 TRHR skos:exactMatch hgnc.symbol:TRHR semapv:UnspecifiedMatching -OMIM:188595 TEF skos:exactMatch ncbigene:7008 semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch ncbigene:7201 semapv:UnspecifiedMatching OMIM:188595 TEF skos:exactMatch hgnc.symbol:TEF semapv:UnspecifiedMatching -OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:TIMP2 semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch ncbigene:7008 semapv:UnspecifiedMatching OMIM:188825 TIMP2 skos:exactMatch ncbigene:7077 semapv:UnspecifiedMatching -OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:TIMP3 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:TIMP2 semapv:UnspecifiedMatching OMIM:188826 TIMP3 skos:exactMatch ncbigene:7078 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch ncbigene:5573 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:TIMP3 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:PRKAR1A semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016394 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016393 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016392 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch ncbigene:5573 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2607929 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1864846 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1418907 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching OMIM:188840 TTN skos:exactMatch hgnc.symbol:TTN semapv:UnspecifiedMatching OMIM:188840 TTN skos:exactMatch ncbigene:7273 semapv:UnspecifiedMatching OMIM:188855 GNLY skos:exactMatch hgnc.symbol:GNLY semapv:UnspecifiedMatching OMIM:188855 GNLY skos:exactMatch ncbigene:10578 semapv:UnspecifiedMatching -OMIM:188860 MAL skos:exactMatch ncbigene:4118 semapv:UnspecifiedMatching OMIM:188860 MAL skos:exactMatch hgnc.symbol:MAL semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch ncbigene:4118 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch ncbigene:7214 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch UMLS:C5239945 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:TRN-GTT2-7 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch ncbigene:7214 semapv:UnspecifiedMatching -OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:TFCP2 semapv:UnspecifiedMatching OMIM:189889 TFCP2 skos:exactMatch ncbigene:7024 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:TFCP2 semapv:UnspecifiedMatching OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:GCFC2 semapv:UnspecifiedMatching OMIM:189901 TCF9 skos:exactMatch ncbigene:6936 semapv:UnspecifiedMatching -OMIM:189902 TFDP1 skos:exactMatch ncbigene:7027 semapv:UnspecifiedMatching OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:TFDP1 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch ncbigene:7027 semapv:UnspecifiedMatching OMIM:189903 NFYA skos:exactMatch hgnc.symbol:NFYA semapv:UnspecifiedMatching OMIM:189903 NFYA skos:exactMatch ncbigene:4800 semapv:UnspecifiedMatching OMIM:189904 NFYB skos:exactMatch hgnc.symbol:NFYB semapv:UnspecifiedMatching OMIM:189904 NFYB skos:exactMatch ncbigene:4801 semapv:UnspecifiedMatching -OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:TCN1 semapv:UnspecifiedMatching OMIM:189905 TCN1 skos:exactMatch ncbigene:6947 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:TCN1 semapv:UnspecifiedMatching OMIM:189906 SP1 skos:exactMatch hgnc.symbol:SP1 semapv:UnspecifiedMatching OMIM:189906 SP1 skos:exactMatch ncbigene:6667 semapv:UnspecifiedMatching OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:HNF1B semapv:UnspecifiedMatching OMIM:189907 HNF1B skos:exactMatch ncbigene:6928 semapv:UnspecifiedMatching -OMIM:189908 TCF7 skos:exactMatch ncbigene:6932 semapv:UnspecifiedMatching OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:TCF7 semapv:UnspecifiedMatching -OMIM:189909 ZEB1 skos:exactMatch ncbigene:6935 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch ncbigene:6932 semapv:UnspecifiedMatching OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:ZEB1 semapv:UnspecifiedMatching -OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:TRS-AGA2-3 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch ncbigene:6935 semapv:UnspecifiedMatching OMIM:189910 TRS-AGA2-3 skos:exactMatch ncbigene:23437 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch UMLS:C3891582 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:TRS-AGA2-3 semapv:UnspecifiedMatching OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:TRG-CCC1-1 semapv:UnspecifiedMatching OMIM:189911 TRG-CCC1-1 skos:exactMatch ncbigene:7195 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch UMLS:C3891582 semapv:UnspecifiedMatching OMIM:189912 TRP-TGG3-1 skos:exactMatch UMLS:C1421167 semapv:UnspecifiedMatching OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:TRP-TGG3-1 semapv:UnspecifiedMatching OMIM:189912 TRP-TGG3-1 skos:exactMatch ncbigene:7219 semapv:UnspecifiedMatching -OMIM:189913 TRT-TGT6-1 skos:exactMatch ncbigene:7236 semapv:UnspecifiedMatching OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:TRT-TGT6-1 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch ncbigene:7236 semapv:UnspecifiedMatching OMIM:189918 TRK-TTT3-5 skos:exactMatch UMLS:C1421153 semapv:UnspecifiedMatching OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:TRK-TTT3-5 semapv:UnspecifiedMatching OMIM:189918 TRK-TTT3-5 skos:exactMatch ncbigene:7206 semapv:UnspecifiedMatching OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:TRQ-CTG1-5 semapv:UnspecifiedMatching OMIM:189919 TRQ-CTG1-5 skos:exactMatch ncbigene:7228 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch ncbigene:7208 semapv:UnspecifiedMatching OMIM:189920 TRL-TAG1-1 skos:exactMatch UMLS:C1421155 semapv:UnspecifiedMatching OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:TRL-TAG1-1 semapv:UnspecifiedMatching -OMIM:189921 TRV-AAC1-4 skos:exactMatch ncbigene:7239 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch ncbigene:7208 semapv:UnspecifiedMatching OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:TRV-AAC1-4 semapv:UnspecifiedMatching -OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:TRQ-TTG1-1 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch ncbigene:7239 semapv:UnspecifiedMatching OMIM:189923 TRQ-TTG1-1 skos:exactMatch ncbigene:7229 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:TRQ-TTG1-1 semapv:UnspecifiedMatching OMIM:189930 TRP-AGG2-5 skos:exactMatch UMLS:C1421165 semapv:UnspecifiedMatching OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:TRP-AGG2-5 semapv:UnspecifiedMatching OMIM:189930 TRP-AGG2-5 skos:exactMatch ncbigene:7217 semapv:UnspecifiedMatching OMIM:189931 TRP-AGG2-6 skos:exactMatch UMLS:C1421166 semapv:UnspecifiedMatching OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:TRP-AGG2-6 semapv:UnspecifiedMatching OMIM:189931 TRP-AGG2-6 skos:exactMatch ncbigene:7218 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch ncbigene:7207 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch UMLS:C1421154 semapv:UnspecifiedMatching OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:TRL-AAG2-3 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch UMLS:C1421154 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch ncbigene:7207 semapv:UnspecifiedMatching OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:TRT-TGT3-1 semapv:UnspecifiedMatching OMIM:189933 TRT-TGT3-1 skos:exactMatch ncbigene:7237 semapv:UnspecifiedMatching OMIM:189940 TPR skos:exactMatch hgnc.symbol:TPR semapv:UnspecifiedMatching OMIM:189940 TPR skos:exactMatch ncbigene:7175 semapv:UnspecifiedMatching OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:GTF2E1 semapv:UnspecifiedMatching OMIM:189962 GTF2E1 skos:exactMatch ncbigene:2960 semapv:UnspecifiedMatching -OMIM:189963 GTF2B skos:exactMatch ncbigene:2959 semapv:UnspecifiedMatching OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:GTF2B semapv:UnspecifiedMatching -OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:GTF2E2 semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch ncbigene:2959 semapv:UnspecifiedMatching OMIM:189964 GTF2E2 skos:exactMatch ncbigene:2961 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:GTF2E2 semapv:UnspecifiedMatching OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:CEBPB semapv:UnspecifiedMatching OMIM:189965 CEBPB skos:exactMatch ncbigene:1051 semapv:UnspecifiedMatching OMIM:189967 TEAD1 skos:exactMatch UMLS:C1420679 semapv:UnspecifiedMatching @@ -6046,8 +6046,8 @@ OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:GNGT1 semapv:UnspecifiedMatching OMIM:189970 GNGT1 skos:exactMatch ncbigene:2792 semapv:UnspecifiedMatching OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:E2F1 semapv:UnspecifiedMatching OMIM:189971 E2F1 skos:exactMatch ncbigene:1869 semapv:UnspecifiedMatching -OMIM:189972 GTF2H1 skos:exactMatch ncbigene:2965 semapv:UnspecifiedMatching OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:GTF2H1 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch ncbigene:2965 semapv:UnspecifiedMatching OMIM:189973 ELF1 skos:exactMatch ncbigene:1997 semapv:UnspecifiedMatching OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:ELF1 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch UMLS:C1412097 semapv:UnspecifiedMatching @@ -6062,49 +6062,49 @@ OMIM:190000 TF skos:exactMatch hgnc.symbol:TF semapv:UnspecifiedMatching OMIM:190000 TF skos:exactMatch ncbigene:7018 semapv:UnspecifiedMatching OMIM:190010 TFRC skos:exactMatch hgnc.symbol:TFRC semapv:UnspecifiedMatching OMIM:190010 TFRC skos:exactMatch ncbigene:7037 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4017653 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4225656 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4225657 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4016398 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch hgnc.symbol:HRAS semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch ncbigene:3265 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4479707 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch ncbigene:3265 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4225657 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4017653 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch hgnc.symbol:HRAS semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C3277679 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C0079471 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C3277679 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C0079471 semapv:UnspecifiedMatching OMIM:190030 FES skos:exactMatch hgnc.symbol:FES semapv:UnspecifiedMatching OMIM:190030 FES skos:exactMatch ncbigene:2242 semapv:UnspecifiedMatching -OMIM:190040 PDGFB skos:exactMatch ncbigene:5155 semapv:UnspecifiedMatching OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:PDGFB semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch ncbigene:5155 semapv:UnspecifiedMatching OMIM:190060 MOS skos:exactMatch hgnc.symbol:MOS semapv:UnspecifiedMatching OMIM:190060 MOS skos:exactMatch ncbigene:4342 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016401 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch ncbigene:3845 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch hgnc.symbol:KRAS semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016400 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C5193174 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4693979 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4016405 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4016404 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4016403 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4016402 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016400 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016401 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch ncbigene:3845 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch hgnc.symbol:KRAS semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1537502 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1537502 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch UMLS:C0086661 semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch UMLS:C5193175 semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch hgnc.symbol:MYC semapv:UnspecifiedMatching @@ -6113,42 +6113,42 @@ OMIM:190090 SRC skos:exactMatch hgnc.symbol:SRC semapv:UnspecifiedMatching OMIM:190090 SRC skos:exactMatch ncbigene:6714 semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch ncbigene:7067 semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch hgnc.symbol:THRA semapv:UnspecifiedMatching -OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:ERBB3 semapv:UnspecifiedMatching OMIM:190151 ERBB3 skos:exactMatch ncbigene:2065 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:ERBB3 semapv:UnspecifiedMatching OMIM:190160 THRB skos:exactMatch hgnc.symbol:THRB semapv:UnspecifiedMatching OMIM:190160 THRB skos:exactMatch ncbigene:7068 semapv:UnspecifiedMatching OMIM:190170 TGFA skos:exactMatch UMLS:C1336620 semapv:UnspecifiedMatching OMIM:190170 TGFA skos:exactMatch hgnc.symbol:TGFA semapv:UnspecifiedMatching OMIM:190170 TGFA skos:exactMatch ncbigene:7039 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch ncbigene:7040 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:TGFB1 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C4748708 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C1968974 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C4016407 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:TGFB1 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C1366557 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C4016407 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C1968974 semapv:UnspecifiedMatching OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:TGFBR1 semapv:UnspecifiedMatching OMIM:190181 TGFBR1 skos:exactMatch ncbigene:7046 semapv:UnspecifiedMatching OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:TGFBR2 semapv:UnspecifiedMatching OMIM:190182 TGFBR2 skos:exactMatch ncbigene:7048 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:TGM1 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch ncbigene:7051 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch UMLS:C4016409 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch UMLS:C1420713 semapv:UnspecifiedMatching -OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:TGM2 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch UMLS:C4016409 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:TGM1 semapv:UnspecifiedMatching OMIM:190196 TGM2 skos:exactMatch ncbigene:7052 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:TGM2 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch UMLS:C1413560 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch UMLS:C3809374 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:CNTN2 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch ncbigene:6900 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch ncbigene:4851 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:NOTCH1 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch UMLS:C1334889 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch UMLS:C4014970 semapv:UnspecifiedMatching -OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:TGFB2 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:NOTCH1 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch ncbigene:4851 semapv:UnspecifiedMatching OMIM:190220 TGFB2 skos:exactMatch ncbigene:7042 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:TGFB2 semapv:UnspecifiedMatching OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:TGFB3 semapv:UnspecifiedMatching OMIM:190230 TGFB3 skos:exactMatch ncbigene:7043 semapv:UnspecifiedMatching OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:TNP1 semapv:UnspecifiedMatching @@ -6156,76 +6156,76 @@ OMIM:190231 TNP1 skos:exactMatch ncbigene:7141 semapv:UnspecifiedMatching OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:TNP2 semapv:UnspecifiedMatching OMIM:190232 TNP2 skos:exactMatch ncbigene:7142 semapv:UnspecifiedMatching OMIM:190300 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C1420150 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:SLC25A1 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch ncbigene:6576 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C1420150 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching OMIM:190330 trichomegaly skos:exactMatch UMLS:C0854699 semapv:UnspecifiedMatching OMIM:190330 trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching -OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching -OMIM:190370 TCHH skos:exactMatch hgnc.symbol:TCHH semapv:UnspecifiedMatching +OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching OMIM:190370 TCHH skos:exactMatch ncbigene:7062 semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch hgnc.symbol:TCHH semapv:UnspecifiedMatching OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:TPI1 semapv:UnspecifiedMatching OMIM:190450 TPI1 skos:exactMatch ncbigene:7167 semapv:UnspecifiedMatching OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:TPP2 semapv:UnspecifiedMatching OMIM:190470 TPP2 skos:exactMatch ncbigene:7174 semapv:UnspecifiedMatching OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:ZFP36 semapv:UnspecifiedMatching OMIM:190700 ZFP36 skos:exactMatch ncbigene:7538 semapv:UnspecifiedMatching -OMIM:190920 TPBG skos:exactMatch ncbigene:7162 semapv:UnspecifiedMatching OMIM:190920 TPBG skos:exactMatch hgnc.symbol:TPBG semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch ncbigene:7162 semapv:UnspecifiedMatching OMIM:190930 TMOD skos:exactMatch hgnc.symbol:TMOD1 semapv:UnspecifiedMatching OMIM:190930 TMOD skos:exactMatch ncbigene:7111 semapv:UnspecifiedMatching -OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:TPM2 semapv:UnspecifiedMatching OMIM:190990 TPM2 skos:exactMatch ncbigene:7169 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:TPM2 semapv:UnspecifiedMatching OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:TPM1 semapv:UnspecifiedMatching OMIM:191010 TPM1 skos:exactMatch ncbigene:7168 semapv:UnspecifiedMatching OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:TPM3 semapv:UnspecifiedMatching OMIM:191030 TPM3 skos:exactMatch ncbigene:7170 semapv:UnspecifiedMatching -OMIM:191039 TNNC2 skos:exactMatch ncbigene:7125 semapv:UnspecifiedMatching OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:TNNC2 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch ncbigene:7125 semapv:UnspecifiedMatching OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:TNNC1 semapv:UnspecifiedMatching OMIM:191040 TNNC1 skos:exactMatch ncbigene:7134 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch UMLS:C1420827 semapv:UnspecifiedMatching OMIM:191041 TNNT1 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:TNNT1 semapv:UnspecifiedMatching OMIM:191041 TNNT1 skos:exactMatch ncbigene:7138 semapv:UnspecifiedMatching -OMIM:191042 TNNI1 skos:exactMatch ncbigene:7135 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch UMLS:C1420827 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:TNNT1 semapv:UnspecifiedMatching OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:TNNI1 semapv:UnspecifiedMatching -OMIM:191043 TNNI2 skos:exactMatch ncbigene:7136 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch ncbigene:7135 semapv:UnspecifiedMatching OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:TNNI2 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch ncbigene:7136 semapv:UnspecifiedMatching OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:TNNI3 semapv:UnspecifiedMatching OMIM:191044 TNNI3 skos:exactMatch ncbigene:7137 semapv:UnspecifiedMatching -OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:TNNT2 semapv:UnspecifiedMatching OMIM:191045 TNNT2 skos:exactMatch ncbigene:7139 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:TNNT2 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch ncbigene:7453 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:WARS1 semapv:UnspecifiedMatching OMIM:191050 WARS1 skos:exactMatch UMLS:C1421476 semapv:UnspecifiedMatching OMIM:191050 WARS1 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:WARS1 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch ncbigene:7453 semapv:UnspecifiedMatching -OMIM:191060 TPH1 skos:exactMatch ncbigene:7166 semapv:UnspecifiedMatching OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:TPH1 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch ncbigene:7166 semapv:UnspecifiedMatching OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:TDO2 semapv:UnspecifiedMatching OMIM:191070 TDO2 skos:exactMatch ncbigene:6999 semapv:UnspecifiedMatching OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:TPSAB1 semapv:UnspecifiedMatching OMIM:191080 TPSAB1 skos:exactMatch ncbigene:7177 semapv:UnspecifiedMatching -OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:TPSB2 semapv:UnspecifiedMatching OMIM:191081 TPSB2 skos:exactMatch ncbigene:64499 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch ncbigene:7249 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:TSC2 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C1847648 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:TPSB2 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C0694895 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C1847648 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C1860707 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:TSC2 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch ncbigene:7249 semapv:UnspecifiedMatching OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:TUBA4A semapv:UnspecifiedMatching OMIM:191110 TUBA4A skos:exactMatch ncbigene:7277 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch ncbigene:203068 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch hgnc.symbol:TUBB semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch UMLS:C1421231 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch UMLS:C4014283 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch UMLS:C1421231 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:TUBG1 semapv:UnspecifiedMatching OMIM:191135 TUBG1 skos:exactMatch ncbigene:7283 semapv:UnspecifiedMatching OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:TM4SF1 semapv:UnspecifiedMatching @@ -6236,40 +6236,40 @@ OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:TNFAIP1 semapv:UnspecifiedMatchi OMIM:191161 TNFAIP1 skos:exactMatch ncbigene:7126 semapv:UnspecifiedMatching OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:TNFAIP3 semapv:UnspecifiedMatching OMIM:191163 TNFAIP3 skos:exactMatch ncbigene:7128 semapv:UnspecifiedMatching -OMIM:191164 EFNA1 skos:exactMatch ncbigene:1942 semapv:UnspecifiedMatching OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:EFNA1 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch ncbigene:7157 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch hgnc.symbol:TP53 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4749067 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4016419 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch ncbigene:1942 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C3553606 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C2675080 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C2674060 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4016419 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C4748488 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1851161 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1835398 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0431109 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0206624 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4749067 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch hgnc.symbol:TP53 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch ncbigene:7157 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C2674060 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C0079419 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0029463 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0024305 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1859973 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0024305 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0029463 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1859973 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0431109 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1835398 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1851161 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0206624 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:HSP90B1 semapv:UnspecifiedMatching OMIM:191175 HSP90B1 skos:exactMatch ncbigene:7184 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch ncbigene:7132 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:TNFRSF1A semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:TNFRSF1B semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:TNFRSF1A semapv:UnspecifiedMatching OMIM:191191 TNFRSF1B skos:exactMatch ncbigene:7133 semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:TNFRSF1B semapv:UnspecifiedMatching OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:MAP3K8 semapv:UnspecifiedMatching OMIM:191195 MAP3K8 skos:exactMatch ncbigene:1326 semapv:UnspecifiedMatching OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:TYRL semapv:UnspecifiedMatching @@ -6277,8 +6277,8 @@ OMIM:191275 DCT skos:exactMatch hgnc.symbol:DCT semapv:UnspecifiedMatching OMIM:191275 DCT skos:exactMatch ncbigene:1638 semapv:UnspecifiedMatching OMIM:191290 TH skos:exactMatch hgnc.symbol:TH semapv:UnspecifiedMatching OMIM:191290 TH skos:exactMatch ncbigene:7054 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch hgnc.symbol:BLK semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch ncbigene:640 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch hgnc.symbol:BLK semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch UMLS:C1332419 semapv:UnspecifiedMatching OMIM:191306 KDR skos:exactMatch hgnc.symbol:KDR semapv:UnspecifiedMatching @@ -6294,8 +6294,8 @@ OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:NTRK3 semapv:UnspecifiedMatching OMIM:191316 NTRK3 skos:exactMatch ncbigene:4916 semapv:UnspecifiedMatching OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:U2AF1 semapv:UnspecifiedMatching OMIM:191317 U2AF1 skos:exactMatch ncbigene:7307 semapv:UnspecifiedMatching -OMIM:191318 U2AF2 skos:exactMatch ncbigene:11338 semapv:UnspecifiedMatching OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:U2AF2 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch ncbigene:11338 semapv:UnspecifiedMatching OMIM:191321 UBA52 skos:exactMatch ncbigene:7311 semapv:UnspecifiedMatching OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:UBA52 semapv:UnspecifiedMatching OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:UBA7 semapv:UnspecifiedMatching @@ -6306,28 +6306,28 @@ OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:UQCRFS1 semapv:UnspecifiedMatchi OMIM:191327 UQCRFS1 skos:exactMatch ncbigene:7386 semapv:UnspecifiedMatching OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:UQCRC1 semapv:UnspecifiedMatching OMIM:191328 UQCRC1 skos:exactMatch ncbigene:7384 semapv:UnspecifiedMatching -OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:UQCRC2 semapv:UnspecifiedMatching OMIM:191329 UQCRC2 skos:exactMatch ncbigene:7385 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:UQCRC2 semapv:UnspecifiedMatching OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:UQCRB semapv:UnspecifiedMatching OMIM:191330 UQCRB skos:exactMatch ncbigene:7381 semapv:UnspecifiedMatching OMIM:191339 UBB skos:exactMatch hgnc.symbol:UBB semapv:UnspecifiedMatching OMIM:191339 UBB skos:exactMatch ncbigene:7314 semapv:UnspecifiedMatching OMIM:191340 UBC skos:exactMatch hgnc.symbol:UBC semapv:UnspecifiedMatching OMIM:191340 UBC skos:exactMatch ncbigene:7316 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C3809665 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch ncbigene:7345 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:UCHL1 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C1421309 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C3150899 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch ncbigene:7345 semapv:UnspecifiedMatching -OMIM:191343 RPS27A skos:exactMatch ncbigene:6233 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C1421309 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:RPS27A semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch ncbigene:6233 semapv:UnspecifiedMatching OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:DPAGT1 semapv:UnspecifiedMatching OMIM:191350 DPAGT1 skos:exactMatch ncbigene:1798 semapv:UnspecifiedMatching -OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:CSDE1 semapv:UnspecifiedMatching OMIM:191510 CSDE1 skos:exactMatch ncbigene:7812 semapv:UnspecifiedMatching -OMIM:191523 USF1 skos:exactMatch hgnc.symbol:USF1 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:CSDE1 semapv:UnspecifiedMatching OMIM:191523 USF1 skos:exactMatch ncbigene:7391 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch hgnc.symbol:USF1 semapv:UnspecifiedMatching OMIM:191525 UNG skos:exactMatch hgnc.symbol:UNG semapv:UnspecifiedMatching OMIM:191525 UNG skos:exactMatch ncbigene:7374 semapv:UnspecifiedMatching OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:UOX semapv:UnspecifiedMatching @@ -6337,29 +6337,29 @@ OMIM:191720 NT5C skos:exactMatch hgnc.symbol:NT5C semapv:UnspecifiedMatching OMIM:191720 NT5C skos:exactMatch ncbigene:30833 semapv:UnspecifiedMatching OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:UPP1 semapv:UnspecifiedMatching OMIM:191730 UPP1 skos:exactMatch ncbigene:7378 semapv:UnspecifiedMatching -OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:UGT1A1 semapv:UnspecifiedMatching OMIM:191740 UGT1A1 skos:exactMatch ncbigene:54658 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch ncbigene:7360 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:UGP2 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:UGT1A1 semapv:UnspecifiedMatching OMIM:191760 UGP2 skos:exactMatch UMLS:C1421321 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:UGP2 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch ncbigene:7360 semapv:UnspecifiedMatching OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C0403645 semapv:UnspecifiedMatching OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching OMIM:191840 PLAU skos:exactMatch hgnc.symbol:PLAU semapv:UnspecifiedMatching OMIM:191840 PLAU skos:exactMatch ncbigene:5328 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch ncbigene:7369 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch hgnc.symbol:UMOD semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch ncbigene:7369 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1835934 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1421351 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1859040 semapv:UnspecifiedMatching OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:SCGB1A1 semapv:UnspecifiedMatching OMIM:192020 SCGB1A1 skos:exactMatch ncbigene:7356 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4016428 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4016426 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch ncbigene:999 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:CDH1 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C4551988 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4016426 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4016428 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C4016427 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C3549742 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C3469524 semapv:UnspecifiedMatching @@ -6368,10 +6368,10 @@ OMIM:192090 CDH1 skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C0694872 semapv:UnspecifiedMatching OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:ATP6V0A1 semapv:UnspecifiedMatching OMIM:192130 ATP6V0A1 skos:exactMatch ncbigene:535 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:ATP6V1B1 semapv:UnspecifiedMatching OMIM:192132 ATP6V1B1 skos:exactMatch ncbigene:525 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C1412673 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:ATP6V1B1 semapv:UnspecifiedMatching OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C1412673 semapv:UnspecifiedMatching OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:VARS1 semapv:UnspecifiedMatching OMIM:192150 VARS1 skos:exactMatch ncbigene:7407 semapv:UnspecifiedMatching OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:VCAM1 semapv:UnspecifiedMatching @@ -6381,8 +6381,8 @@ OMIM:192240 VEGFA skos:exactMatch ncbigene:7422 semapv:UnspecifiedMatching OMIM:192320 VIP skos:exactMatch hgnc.symbol:VIP semapv:UnspecifiedMatching OMIM:192320 VIP skos:exactMatch ncbigene:7432 semapv:UnspecifiedMatching OMIM:192321 VIPR1 skos:exactMatch ncbigene:7433 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:VIPR1 semapv:UnspecifiedMatching OMIM:192321 VIPR1 skos:exactMatch UMLS:C1336936 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:VIPR1 semapv:UnspecifiedMatching OMIM:192340 AVP skos:exactMatch hgnc.symbol:AVP semapv:UnspecifiedMatching OMIM:192340 AVP skos:exactMatch ncbigene:551 semapv:UnspecifiedMatching OMIM:192430 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching @@ -6391,8 +6391,8 @@ OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin seque OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C3277700 semapv:UnspecifiedMatching OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C4551647 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C3277700 semapv:UnspecifiedMatching OMIM:192968 ITGA1 skos:exactMatch UMLS:C1442490 semapv:UnspecifiedMatching OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:ITGA1 semapv:UnspecifiedMatching OMIM:192968 ITGA1 skos:exactMatch ncbigene:3672 semapv:UnspecifiedMatching @@ -6400,20 +6400,20 @@ OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:ITGA2 semapv:UnspecifiedMatching OMIM:192974 ITGA2 skos:exactMatch ncbigene:3673 semapv:UnspecifiedMatching OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:ITGA4 semapv:UnspecifiedMatching OMIM:192975 ITGA4 skos:exactMatch ncbigene:3676 semapv:UnspecifiedMatching -OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching OMIM:192977 VLDLR skos:exactMatch ncbigene:7436 semapv:UnspecifiedMatching -OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:SLC18A2 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:SLC18A1 semapv:UnspecifiedMatching OMIM:193002 SLC18A1 skos:exactMatch ncbigene:6570 semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:VIL1 semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch ncbigene:7429 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch hgnc.symbol:VIM semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch ncbigene:7431 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C4479667 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch hgnc.symbol:VIM semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch UMLS:C1421451 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C4479666 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch UMLS:C1421451 semapv:UnspecifiedMatching OMIM:193065 VCL skos:exactMatch hgnc.symbol:VCL semapv:UnspecifiedMatching OMIM:193065 VCL skos:exactMatch ncbigene:7414 semapv:UnspecifiedMatching OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:FLI1 semapv:UnspecifiedMatching @@ -6422,26 +6422,26 @@ OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch UMLS:C0 OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching OMIM:193190 VTN skos:exactMatch ncbigene:7448 semapv:UnspecifiedMatching OMIM:193190 VTN skos:exactMatch hgnc.symbol:VTN semapv:UnspecifiedMatching -OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:ITGAV semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:VDAC2 semapv:UnspecifiedMatching OMIM:193245 VDAC2 skos:exactMatch ncbigene:7417 semapv:UnspecifiedMatching -OMIM:193300 von hippel-lindau syndrome skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching OMIM:193300 von hippel-lindau syndrome skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching +OMIM:193300 von hippel-lindau syndrome skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching -OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:WEE1 semapv:UnspecifiedMatching OMIM:193525 WEE1 skos:exactMatch ncbigene:7465 semapv:UnspecifiedMatching -OMIM:194050 williams-beuren syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:WEE1 semapv:UnspecifiedMatching OMIM:194050 williams-beuren syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching +OMIM:194050 williams-beuren syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching OMIM:194070 wilms tumor 1 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching OMIM:194070 wilms tumor 1 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching @@ -6449,13 +6449,13 @@ OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:XBP1 semapv:UnspecifiedMatching OMIM:194355 XBP1 skos:exactMatch ncbigene:7494 semapv:UnspecifiedMatching OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:XRCC1 semapv:UnspecifiedMatching OMIM:194360 XRCC1 skos:exactMatch ncbigene:7515 semapv:UnspecifiedMatching -OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:XRCC4 semapv:UnspecifiedMatching OMIM:194363 XRCC4 skos:exactMatch ncbigene:7518 semapv:UnspecifiedMatching -OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:XRCC4 semapv:UnspecifiedMatching OMIM:194364 XRCC5 skos:exactMatch ncbigene:7520 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching OMIM:194450 yeast factor skos:exactMatch UMLS:C1860230 semapv:UnspecifiedMatching -OMIM:194460 AZGP1 skos:exactMatch ncbigene:563 semapv:UnspecifiedMatching OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:AZGP1 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch ncbigene:563 semapv:UnspecifiedMatching OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:ZFP3 semapv:UnspecifiedMatching OMIM:194480 ZFP3 skos:exactMatch ncbigene:124961 semapv:UnspecifiedMatching OMIM:194490 zinc finger protein 1 skos:exactMatch UMLS:C1421587 semapv:UnspecifiedMatching @@ -6463,97 +6463,97 @@ OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:ZNF2 semapv:UnspecifiedMatching OMIM:194500 ZNF2 skos:exactMatch ncbigene:7549 semapv:UnspecifiedMatching OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:ZNF3 semapv:UnspecifiedMatching OMIM:194510 ZNF3 skos:exactMatch ncbigene:7551 semapv:UnspecifiedMatching -OMIM:194521 ZNF33A skos:exactMatch ncbigene:7581 semapv:UnspecifiedMatching OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:ZNF33A semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch ncbigene:7581 semapv:UnspecifiedMatching OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:ZNF33B semapv:UnspecifiedMatching OMIM:194522 ZNF33B skos:exactMatch ncbigene:7582 semapv:UnspecifiedMatching OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:ZNF18 semapv:UnspecifiedMatching OMIM:194524 ZNF18 skos:exactMatch ncbigene:7566 semapv:UnspecifiedMatching -OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:ZNF19 semapv:UnspecifiedMatching OMIM:194525 ZNF19 skos:exactMatch ncbigene:7567 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:ZNF19 semapv:UnspecifiedMatching OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:ZNF34 semapv:UnspecifiedMatching OMIM:194526 ZNF34 skos:exactMatch ncbigene:80778 semapv:UnspecifiedMatching -OMIM:194527 ZNF23 skos:exactMatch ncbigene:7571 semapv:UnspecifiedMatching OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:ZNF23 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch ncbigene:7571 semapv:UnspecifiedMatching OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:ZNF25 semapv:UnspecifiedMatching OMIM:194528 ZNF25 skos:exactMatch ncbigene:219749 semapv:UnspecifiedMatching -OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:ZNF22 semapv:UnspecifiedMatching OMIM:194529 ZNF22 skos:exactMatch ncbigene:7570 semapv:UnspecifiedMatching -OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:ZNF7 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:ZNF22 semapv:UnspecifiedMatching OMIM:194531 ZNF7 skos:exactMatch ncbigene:7553 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:ZNF7 semapv:UnspecifiedMatching OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:ZNF8 semapv:UnspecifiedMatching OMIM:194532 ZNF8 skos:exactMatch ncbigene:7554 semapv:UnspecifiedMatching -OMIM:194533 ZNF35 skos:exactMatch ncbigene:7584 semapv:UnspecifiedMatching OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:ZNF35 semapv:UnspecifiedMatching -OMIM:194534 ZNF24 skos:exactMatch ncbigene:7572 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch ncbigene:7584 semapv:UnspecifiedMatching OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:ZNF24 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch ncbigene:7572 semapv:UnspecifiedMatching OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:ZNF29P semapv:UnspecifiedMatching OMIM:194535 ZNF29P skos:exactMatch ncbigene:7577 semapv:UnspecifiedMatching -OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:ZNF12 semapv:UnspecifiedMatching OMIM:194536 ZNF12 skos:exactMatch ncbigene:7559 semapv:UnspecifiedMatching -OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:ZNF26 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:ZNF12 semapv:UnspecifiedMatching OMIM:194537 ZNF26 skos:exactMatch ncbigene:7574 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:ZNF26 semapv:UnspecifiedMatching OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:ZNF10 semapv:UnspecifiedMatching OMIM:194538 ZNF10 skos:exactMatch ncbigene:7556 semapv:UnspecifiedMatching -OMIM:194539 ZNF32 skos:exactMatch ncbigene:7580 semapv:UnspecifiedMatching OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:ZNF32 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch ncbigene:7580 semapv:UnspecifiedMatching OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:HIVEP1 semapv:UnspecifiedMatching OMIM:194540 HIVEP1 skos:exactMatch ncbigene:3096 semapv:UnspecifiedMatching OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:ZBTB25 semapv:UnspecifiedMatching OMIM:194541 ZBTB25 skos:exactMatch ncbigene:7597 semapv:UnspecifiedMatching -OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:ZNF44 semapv:UnspecifiedMatching OMIM:194542 ZNF44 skos:exactMatch ncbigene:51710 semapv:UnspecifiedMatching -OMIM:194543 ZNF69 skos:exactMatch ncbigene:7620 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:ZNF44 semapv:UnspecifiedMatching OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:ZNF69 semapv:UnspecifiedMatching -OMIM:194544 ZNF70 skos:exactMatch ncbigene:7621 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch ncbigene:7620 semapv:UnspecifiedMatching OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:ZNF70 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch ncbigene:7621 semapv:UnspecifiedMatching OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:ZNF71 semapv:UnspecifiedMatching OMIM:194545 ZNF71 skos:exactMatch ncbigene:58491 semapv:UnspecifiedMatching -OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:ZNF72P semapv:UnspecifiedMatching OMIM:194546 ZNF72 skos:exactMatch ncbigene:100287084 semapv:UnspecifiedMatching -OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:ZNF73P semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:ZNF72P semapv:UnspecifiedMatching OMIM:194547 ZNF73 skos:exactMatch ncbigene:105379427 semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:ZNF73P semapv:UnspecifiedMatching OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:ZNF74 semapv:UnspecifiedMatching OMIM:194548 ZNF74 skos:exactMatch ncbigene:7625 semapv:UnspecifiedMatching -OMIM:194549 ZNF76 skos:exactMatch ncbigene:7629 semapv:UnspecifiedMatching OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:ZNF76 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch ncbigene:7629 semapv:UnspecifiedMatching OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:MZF1 semapv:UnspecifiedMatching OMIM:194550 MZF1 skos:exactMatch ncbigene:7593 semapv:UnspecifiedMatching OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:ZNF77 semapv:UnspecifiedMatching OMIM:194551 ZNF77 skos:exactMatch ncbigene:58492 semapv:UnspecifiedMatching -OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:ZNF79 semapv:UnspecifiedMatching OMIM:194552 ZNF79 skos:exactMatch ncbigene:7633 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:ZNF79 semapv:UnspecifiedMatching OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:ZNF80 semapv:UnspecifiedMatching OMIM:194553 ZNF80 skos:exactMatch ncbigene:7634 semapv:UnspecifiedMatching -OMIM:194554 ZNF45 skos:exactMatch ncbigene:7596 semapv:UnspecifiedMatching OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:ZNF45 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch ncbigene:7596 semapv:UnspecifiedMatching OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:ZNF224 semapv:UnspecifiedMatching OMIM:194555 ZNF224 skos:exactMatch ncbigene:7767 semapv:UnspecifiedMatching OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:ZNF14 semapv:UnspecifiedMatching OMIM:194556 ZNF14 skos:exactMatch ncbigene:7561 semapv:UnspecifiedMatching -OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:ZNF20 semapv:UnspecifiedMatching OMIM:194557 ZNF20 skos:exactMatch ncbigene:7568 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:ZNF20 semapv:UnspecifiedMatching OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:ZNF83 semapv:UnspecifiedMatching OMIM:194558 ZNF83 skos:exactMatch ncbigene:55769 semapv:UnspecifiedMatching -OMIM:194624 ZNF117 skos:exactMatch ncbigene:51351 semapv:UnspecifiedMatching OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:ZNF117 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch ncbigene:51351 semapv:UnspecifiedMatching OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:ZNF121 semapv:UnspecifiedMatching OMIM:194628 ZNF121 skos:exactMatch ncbigene:7675 semapv:UnspecifiedMatching OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:ZNF123P semapv:UnspecifiedMatching -OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:ZNF124 semapv:UnspecifiedMatching OMIM:194631 ZNF124 skos:exactMatch ncbigene:7678 semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:ZNF124 semapv:UnspecifiedMatching OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:ZNF141 semapv:UnspecifiedMatching OMIM:194648 ZNF141 skos:exactMatch ncbigene:7700 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch ncbigene:22917 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:ZP1 semapv:UnspecifiedMatching OMIM:195000 ZP1 skos:exactMatch UMLS:C1421864 semapv:UnspecifiedMatching OMIM:195000 ZP1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:ZP1 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch ncbigene:22917 semapv:UnspecifiedMatching OMIM:200350 ACACA skos:exactMatch hgnc.symbol:ACACA semapv:UnspecifiedMatching OMIM:200350 ACACA skos:exactMatch ncbigene:31 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching OMIM:200610 achondrogenesis, iia 2 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 semapv:UnspecifiedMatching OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching @@ -6562,79 +6562,79 @@ OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatc OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching OMIM:203450 alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching OMIM:203450 alexander disease skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C4551986 semapv:UnspecifiedMatching OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C1859878 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching -OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching +OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching OMIM:207800 argininemia skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching OMIM:207800 argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C1859727 semapv:UnspecifiedMatching OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching -OMIM:208050 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching OMIM:208050 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching +OMIM:208050 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching OMIM:208081 arthrogryposis, distal, with mental retardation and characteristic facies skos:exactMatch UMLS:C1859723 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C1859721 semapv:UnspecifiedMatching OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching -OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C1859721 semapv:UnspecifiedMatching OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch UMLS:C1276035 semapv:UnspecifiedMatching OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching -OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching -OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching +OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C2931840 semapv:UnspecifiedMatching OMIM:208400 aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching -OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C0175707 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching OMIM:208900 ataxia-telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching OMIM:208900 ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching -OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching -OMIM:209901 BBS1 skos:exactMatch ncbigene:582 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:BBS1 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch ncbigene:582 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching OMIM:209950 immunodeficiency 27a skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching OMIM:210000 behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:101022 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching -OMIM:210600 seckel syndrome 1 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching OMIM:210600 seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching +OMIM:210600 seckel syndrome 1 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:FUT1 semapv:UnspecifiedMatching OMIM:211100 FUT1 skos:exactMatch ncbigene:2523 semapv:UnspecifiedMatching OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching -OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching +OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching -OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching +OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:212750 celiac disease, susceptibility to, 1 skos:exactMatch UMLS:C1859310 semapv:UnspecifiedMatching @@ -6643,173 +6643,173 @@ OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental de OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C0431399 semapv:UnspecifiedMatching OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching OMIM:213300 joubert syndrome 1 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching +OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching -OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching +OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching OMIM:215300 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching OMIM:215300 chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching -OMIM:216340 yunis-varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching OMIM:216340 yunis-varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching -OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching +OMIM:216340 yunis-varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching OMIM:216360 coach syndrome 1 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching -OMIM:216550 cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching OMIM:216550 cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching +OMIM:216550 cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching OMIM:217030 CFI skos:exactMatch hgnc.symbol:CFI semapv:UnspecifiedMatching OMIM:217030 CFI skos:exactMatch ncbigene:3426 semapv:UnspecifiedMatching OMIM:217050 C6 skos:exactMatch hgnc.symbol:C6 semapv:UnspecifiedMatching OMIM:217050 C6 skos:exactMatch ncbigene:729 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch ncbigene:730 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch hgnc.symbol:C7 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch UMLS:C1413019 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch UMLS:C4017564 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch ncbigene:730 semapv:UnspecifiedMatching -OMIM:217080 jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch UMLS:C1413019 semapv:UnspecifiedMatching OMIM:217080 jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching +OMIM:217080 jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching -OMIM:218040 costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching OMIM:218040 costello syndrome skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching OMIM:218040 costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching -OMIM:219500 cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching OMIM:219500 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching OMIM:219500 cystathioninuria skos:exactMatch UMLS:C3495552 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching OMIM:219700 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching OMIM:219700 cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching +OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C4551776 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching -OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C0011854 semapv:UnspecifiedMatching OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C5435660 semapv:UnspecifiedMatching -OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:DECR1 semapv:UnspecifiedMatching OMIM:222745 DECR1 skos:exactMatch ncbigene:1666 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C3495551 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:DECR1 semapv:UnspecifiedMatching OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching -OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C3495551 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching +OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C0342687 semapv:UnspecifiedMatching OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching OMIM:223360 orthostatic hypotension 1 skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching -OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching -OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching +OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching -OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching +OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching +OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching OMIM:225000 rosselli-gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching -OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch UMLS:C1857041 semapv:UnspecifiedMatching +OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C1856972 semapv:UnspecifiedMatching OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C3203738 semapv:UnspecifiedMatching OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching OMIM:226200 enterokinase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching OMIM:226200 enterokinase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching -OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching +OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch UMLS:C0079683 semapv:UnspecifiedMatching OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching -OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch UMLS:C1856934 semapv:UnspecifiedMatching -OMIM:226960 lowry-wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching +OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching OMIM:226960 lowry-wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching +OMIM:226960 lowry-wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching OMIM:227400 factor 5 deficiency skos:exactMatch UMLS:C0015499 semapv:UnspecifiedMatching OMIM:227400 factor 5 deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching -OMIM:228000 farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching OMIM:228000 farber lipogranulomatosis skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching +OMIM:228000 farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C0432284 semapv:UnspecifiedMatching OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching -OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching -OMIM:229000 KLKB1 skos:exactMatch ncbigene:3818 semapv:UnspecifiedMatching OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:KLKB1 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch ncbigene:3818 semapv:UnspecifiedMatching OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching OMIM:229600 fructose intolerance, hereditary skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching OMIM:229600 fructose intolerance, hereditary skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching OMIM:230350 galactosemia 3 skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching OMIM:230800 gaucher disease, iia 1 skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching OMIM:230900 gaucher disease, iia 2 skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching OMIM:231000 gaucher disease, iia 3 skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching OMIM:231070 geroderma osteodysplasticum skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching OMIM:231070 geroderma osteodysplasticum skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching -OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch UMLS:C1856465 semapv:UnspecifiedMatching +OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:ETFDH semapv:UnspecifiedMatching OMIM:231675 ETFDH skos:exactMatch ncbigene:2110 semapv:UnspecifiedMatching OMIM:231970 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch ncbigene:5095 semapv:UnspecifiedMatching OMIM:232000 PCCA skos:exactMatch UMLS:C1418303 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching OMIM:232000 PCCA skos:exactMatch hgnc.symbol:PCCA semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch ncbigene:5095 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch ncbigene:5096 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch hgnc.symbol:PCCB semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch UMLS:C1418304 semapv:UnspecifiedMatching OMIM:232050 PCCB skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch UMLS:C1418304 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch hgnc.symbol:PCCB semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch ncbigene:5096 semapv:UnspecifiedMatching OMIM:232200 glycogen storage disease ia skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching OMIM:232220 glycogen storage disease ib skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C2931347 semapv:UnspecifiedMatching OMIM:232300 glycogen storage disease 2 skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching -OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968739 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968740 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968741 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968742 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968741 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968739 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968740 semapv:UnspecifiedMatching OMIM:232700 glycogen storage disease 6 skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching OMIM:232700 glycogen storage disease 6 skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching -OMIM:233100 renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching OMIM:233100 renal glucosuria skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching +OMIM:233100 renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching OMIM:233420 46,xy sex reversal 7 skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching OMIM:233420 46,xy sex reversal 7 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching @@ -6818,40 +6818,40 @@ OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMat OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching OMIM:234500 hartnup disorder skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching OMIM:234500 hartnup disorder skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0078982 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching OMIM:236690 hydrocephalus, normal-pressure, 1 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching OMIM:236800 hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching OMIM:236800 hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching -OMIM:238300 GLDC skos:exactMatch hgnc.symbol:GLDC semapv:UnspecifiedMatching OMIM:238300 GLDC skos:exactMatch ncbigene:2731 semapv:UnspecifiedMatching -OMIM:238310 AMT skos:exactMatch hgnc.symbol:AMT semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch hgnc.symbol:GLDC semapv:UnspecifiedMatching OMIM:238310 AMT skos:exactMatch ncbigene:275 semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch hgnc.symbol:AMT semapv:UnspecifiedMatching OMIM:238330 GCSH skos:exactMatch hgnc.symbol:GCSH semapv:UnspecifiedMatching OMIM:238330 GCSH skos:exactMatch ncbigene:2653 semapv:UnspecifiedMatching -OMIM:238331 DLD skos:exactMatch ncbigene:1738 semapv:UnspecifiedMatching OMIM:238331 DLD skos:exactMatch hgnc.symbol:DLD semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch ncbigene:1738 semapv:UnspecifiedMatching OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching @@ -6861,68 +6861,68 @@ OMIM:241500 hypophosphatasia, infantile skos:exactMatch UMLS:C0268412 semapv:Uns OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching -OMIM:241800 pallister-hall-like syndrome skos:exactMatch Orphanet:2113 semapv:UnspecifiedMatching OMIM:241800 pallister-hall-like syndrome skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching +OMIM:241800 pallister-hall-like syndrome skos:exactMatch Orphanet:2113 semapv:UnspecifiedMatching OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C1744558 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch ncbigene:27130 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch hgnc.symbol:INVS semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C1744558 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching OMIM:243305 INVS skos:exactMatch UMLS:C1425144 semapv:UnspecifiedMatching OMIM:243305 INVS skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch hgnc.symbol:INVS semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch ncbigene:27130 semapv:UnspecifiedMatching OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1853623 semapv:UnspecifiedMatching OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching -OMIM:243910 arima syndrome skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching OMIM:243910 arima syndrome skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:98861 semapv:UnspecifiedMatching +OMIM:243910 arima syndrome skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4317124 semapv:UnspecifiedMatching OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551720 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:98861 semapv:UnspecifiedMatching OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch UMLS:C0342792 semapv:UnspecifiedMatching OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching OMIM:245450 d-lactic aciduria with gout skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C1855548 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C1855548 semapv:UnspecifiedMatching OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch ncbigene:4056 semapv:UnspecifiedMatching OMIM:246530 LTC4S skos:exactMatch UMLS:C1416932 semapv:UnspecifiedMatching OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:LTC4S semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch ncbigene:4056 semapv:UnspecifiedMatching OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:PNLIP semapv:UnspecifiedMatching OMIM:246600 PNLIP skos:exactMatch ncbigene:5406 semapv:UnspecifiedMatching OMIM:247980 LIPB skos:exactMatch hgnc.symbol:LIPB semapv:UnspecifiedMatching OMIM:247980 LIPB skos:exactMatch ncbigene:3989 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C4282180 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching -OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching OMIM:248610 DBT skos:exactMatch ncbigene:1629 semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:BCKDHB semapv:UnspecifiedMatching OMIM:248611 BCKDHB skos:exactMatch ncbigene:594 semapv:UnspecifiedMatching -OMIM:248800 marinesco-sjogren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching OMIM:248800 marinesco-sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching +OMIM:248800 marinesco-sjogren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching OMIM:248900 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching OMIM:248900 mast syndrome skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching -OMIM:249000 meckel syndrome, iia 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching OMIM:249000 meckel syndrome, iia 1 skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching +OMIM:249000 meckel syndrome, iia 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C5399837 semapv:UnspecifiedMatching OMIM:249100 familial mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching -OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 semapv:UnspecifiedMatching OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching OMIM:249700 langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching @@ -6931,28 +6931,28 @@ OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactM OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching -OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching +OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching -OMIM:251170 MVK skos:exactMatch hgnc.symbol:MVK semapv:UnspecifiedMatching OMIM:251170 MVK skos:exactMatch ncbigene:4598 semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch hgnc.symbol:MVK semapv:UnspecifiedMatching OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C0432242 semapv:UnspecifiedMatching OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching -OMIM:251450 desbuquois dysplasia 1 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy skos:exactMatch UMLS:C5193007 semapv:UnspecifiedMatching -OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching +OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1855008 semapv:UnspecifiedMatching OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching @@ -6969,110 +6969,110 @@ OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch UMLS:C0086647 semapv: OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch UMLS:C0086651 semapv:UnspecifiedMatching OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching -OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching -OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching +OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching -OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching +OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C1854698 semapv:UnspecifiedMatching OMIM:253260 biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch UMLS:C1869123 semapv:UnspecifiedMatching +OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching -OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching OMIM:254450 myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching -OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching +OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching OMIM:254600 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching +OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching -OMIM:255160 myopathy, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching -OMIM:255160 myopathy, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching -OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching -OMIM:255320 minicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching -OMIM:255320 minicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching -OMIM:255320 minicore myopathy with external ophthalmoplegia skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching -OMIM:255995 myopathy, congenital, bailey-bloch skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:255995 myopathy, congenital, bailey-bloch skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching +OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching -OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching OMIM:257150 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching -OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching -OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:2506 semapv:UnspecifiedMatching +OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching -OMIM:257980 odontoonychodermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:2506 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching OMIM:257980 odontoonychodermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching +OMIM:257980 odontoonychodermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching OMIM:258040 oeis complex skos:exactMatch UMLS:C1850321 semapv:UnspecifiedMatching OMIM:258040 oeis complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching OMIM:258040 oeis complex skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching OMIM:258150 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching OMIM:258150 spermatogenic failure 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching -OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching -OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching +OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching OMIM:258480 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching -OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching +OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching +OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching -OMIM:259680 chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching OMIM:259680 chronic recurrent multifocal osteomyelitis skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching +OMIM:259680 chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch UMLS:C0345407 semapv:UnspecifiedMatching OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching OMIM:260350 pancreatic cancer skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching OMIM:260350 pancreatic cancer skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C0272170 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching OMIM:261000 intrinsic factor deficiency skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching OMIM:261000 intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4016819 semapv:UnspecifiedMatching OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching -OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching OMIM:261600 phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching OMIM:261600 phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching OMIM:261600 phenylketonuria skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching @@ -7082,10 +7082,10 @@ OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:9 OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching -OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching +OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch UMLS:C1849700 semapv:UnspecifiedMatching OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching @@ -7105,8 +7105,8 @@ OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins sk OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching OMIM:265900 pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching OMIM:265900 pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching +OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching OMIM:266600 inflammatory bowel disease (crohn disease) 1 skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching @@ -7136,8 +7136,8 @@ OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C0037221 sem OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C3495537 semapv:UnspecifiedMatching OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching OMIM:270150 sjogren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching -OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C0086981 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching @@ -7148,16 +7148,16 @@ OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching -OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching +OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching OMIM:272200 multiple sulfatase deficiency skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching OMIM:272200 multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1848947 semapv:UnspecifiedMatching -OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:272950 teebi-shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching OMIM:272950 teebi-shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching OMIM:273250 46,xy sex reversal 11 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching @@ -7169,15 +7169,15 @@ OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C017570 OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1956258 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch UMLS:C1420620 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch UMLS:C4016444 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:TBXAS1 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch ncbigene:6916 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching @@ -7187,8 +7187,8 @@ OMIM:275360 TREH skos:exactMatch hgnc.symbol:TREH semapv:UnspecifiedMatching OMIM:275360 TREH skos:exactMatch ncbigene:11181 semapv:UnspecifiedMatching OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching -OMIM:275630 chanarin-dorfman syndrome skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching OMIM:275630 chanarin-dorfman syndrome skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching +OMIM:275630 chanarin-dorfman syndrome skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching OMIM:276000 PRSS1 skos:exactMatch ncbigene:5644 semapv:UnspecifiedMatching OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:PRSS1 semapv:UnspecifiedMatching OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C0265325 semapv:UnspecifiedMatching @@ -7209,37 +7209,37 @@ OMIM:276904 usher syndrome, iia 1c skos:exactMatch UMLS:C1848604 semapv:Unspeci OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching OMIM:277100 valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C0403814 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching OMIM:277590 weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching OMIM:277590 weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching OMIM:277900 wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching OMIM:277900 wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching OMIM:277950 winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching OMIM:277950 winchester syndrome skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching -OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching +OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C1968561 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching OMIM:300002 ARSD skos:exactMatch hgnc.symbol:ARSD semapv:UnspecifiedMatching OMIM:300002 ARSD skos:exactMatch ncbigene:414 semapv:UnspecifiedMatching -OMIM:300003 ARSF skos:exactMatch ncbigene:416 semapv:UnspecifiedMatching OMIM:300003 ARSF skos:exactMatch hgnc.symbol:ARSF semapv:UnspecifiedMatching -OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch ncbigene:416 semapv:UnspecifiedMatching OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching +OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:MECP2 semapv:UnspecifiedMatching OMIM:300005 MECP2 skos:exactMatch ncbigene:4204 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch ncbigene:1069 semapv:UnspecifiedMatching OMIM:300006 CETN2 skos:exactMatch UMLS:C1413351 semapv:UnspecifiedMatching OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:CETN2 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch ncbigene:1069 semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch UMLS:C1416413 semapv:UnspecifiedMatching OMIM:300007 IL9R skos:exactMatch hgnc.symbol:IL9R semapv:UnspecifiedMatching OMIM:300007 IL9R skos:exactMatch ncbigene:3581 semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch UMLS:C1416413 semapv:UnspecifiedMatching OMIM:300008 CLCN5 skos:exactMatch ncbigene:1184 semapv:UnspecifiedMatching OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:CLCN5 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching @@ -7261,17 +7261,17 @@ OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:ATP2B3 semapv:UnspecifiedMatching OMIM:300014 ATP2B3 skos:exactMatch ncbigene:492 semapv:UnspecifiedMatching OMIM:300015 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching OMIM:300015 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching -OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:MAGEA1 semapv:UnspecifiedMatching OMIM:300016 MAGEA1 skos:exactMatch ncbigene:4100 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4016451 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4225601 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4225602 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C3806579 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch hgnc.symbol:FLNA semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:MAGEA1 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch ncbigene:2316 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch hgnc.symbol:FLNA semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C4281559 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4225602 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4225601 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4016451 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C3806579 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C2748918 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C2746068 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C1845902 semapv:UnspecifiedMatching @@ -7279,64 +7279,64 @@ OMIM:300017 FLNA skos:exactMatch UMLS:C1844696 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C1414635 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C0265251 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C0262436 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C2746068 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch ncbigene:3054 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:HCFC1 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch UMLS:C1415493 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:PLXNA3 semapv:UnspecifiedMatching OMIM:300022 PLXNA3 skos:exactMatch ncbigene:55558 semapv:UnspecifiedMatching OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:ARHGAP4 semapv:UnspecifiedMatching OMIM:300023 ARHGAP4 skos:exactMatch ncbigene:393 semapv:UnspecifiedMatching OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:ZNF157 semapv:UnspecifiedMatching OMIM:300024 ZNF157 skos:exactMatch ncbigene:7712 semapv:UnspecifiedMatching -OMIM:300025 CDX4 skos:exactMatch ncbigene:1046 semapv:UnspecifiedMatching OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:CDX4 semapv:UnspecifiedMatching -OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:NAP1L2 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch ncbigene:1046 semapv:UnspecifiedMatching OMIM:300026 NAP1L2 skos:exactMatch ncbigene:4674 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:NAP1L2 semapv:UnspecifiedMatching OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:RBM3 semapv:UnspecifiedMatching OMIM:300027 RBM3 skos:exactMatch ncbigene:5935 semapv:UnspecifiedMatching OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:ZRSR2 semapv:UnspecifiedMatching OMIM:300028 ZRSR2 skos:exactMatch ncbigene:8233 semapv:UnspecifiedMatching -OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:TMEM185A semapv:UnspecifiedMatching -OMIM:300032 ATRX skos:exactMatch ncbigene:546 semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching OMIM:300032 ATRX skos:exactMatch hgnc.symbol:ATRX semapv:UnspecifiedMatching -OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:FOXO4 semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch ncbigene:546 semapv:UnspecifiedMatching OMIM:300033 FOXO4 skos:exactMatch ncbigene:4303 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:FOXO4 semapv:UnspecifiedMatching OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:AGTR2 semapv:UnspecifiedMatching OMIM:300034 AGTR2 skos:exactMatch ncbigene:186 semapv:UnspecifiedMatching -OMIM:300035 EFNB1 skos:exactMatch ncbigene:1947 semapv:UnspecifiedMatching OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:EFNB1 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch ncbigene:1947 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1420219 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1845862 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:SLC6A8 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1420219 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch ncbigene:6535 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch ncbigene:2719 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch UMLS:C4016454 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:GPC3 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch UMLS:C1415195 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch UMLS:C1415195 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch UMLS:C4016454 semapv:UnspecifiedMatching OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:P2RY4 semapv:UnspecifiedMatching OMIM:300038 P2RY4 skos:exactMatch ncbigene:5030 semapv:UnspecifiedMatching -OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:POU3F4 semapv:UnspecifiedMatching OMIM:300039 POU3F4 skos:exactMatch ncbigene:5456 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch ncbigene:8243 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:POU3F4 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:SMC1A semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C5394561 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch ncbigene:8243 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C5394560 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C1822777 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:GUCY2F semapv:UnspecifiedMatching OMIM:300041 GUCY2F skos:exactMatch ncbigene:2986 semapv:UnspecifiedMatching OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:TKTL1 semapv:UnspecifiedMatching OMIM:300044 TKTL1 skos:exactMatch ncbigene:8277 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C4551969 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1845235 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C4551969 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching OMIM:300050 USP11 skos:exactMatch hgnc.symbol:USP11 semapv:UnspecifiedMatching OMIM:300050 USP11 skos:exactMatch ncbigene:8237 semapv:UnspecifiedMatching OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:GPM6B semapv:UnspecifiedMatching @@ -7345,8 +7345,8 @@ OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:DRP2 semapv:UnspecifiedMatching OMIM:300052 DRP2 skos:exactMatch ncbigene:1821 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:VAMP7 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch ncbigene:6845 semapv:UnspecifiedMatching -OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching OMIM:300056 HCCS skos:exactMatch ncbigene:3052 semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:TMEM187 semapv:UnspecifiedMatching OMIM:300059 TMEM187 skos:exactMatch ncbigene:8269 semapv:UnspecifiedMatching OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:LAGE3 semapv:UnspecifiedMatching @@ -7355,132 +7355,132 @@ OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:ZMYM3 semapv:UnspecifiedMatching OMIM:300061 ZMYM3 skos:exactMatch ncbigene:9203 semapv:UnspecifiedMatching OMIM:300065 CENPI skos:exactMatch ncbigene:2491 semapv:UnspecifiedMatching OMIM:300065 CENPI skos:exactMatch hgnc.symbol:CENPI semapv:UnspecifiedMatching -OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:FGF13 semapv:UnspecifiedMatching OMIM:300070 FGF13 skos:exactMatch ncbigene:2258 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:FGF13 semapv:UnspecifiedMatching OMIM:300072 USP9X skos:exactMatch hgnc.symbol:USP9X semapv:UnspecifiedMatching OMIM:300072 USP9X skos:exactMatch ncbigene:8239 semapv:UnspecifiedMatching OMIM:300074 XCE skos:exactMatch hgnc.symbol:XCE semapv:UnspecifiedMatching OMIM:300074 XCE skos:exactMatch ncbigene:7497 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:RPS6KA3 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C4016455 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C1419744 semapv:UnspecifiedMatching -OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching OMIM:300078 NDUFA1 skos:exactMatch ncbigene:4694 semapv:UnspecifiedMatching -OMIM:300079 XIAP skos:exactMatch ncbigene:331 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching OMIM:300079 XIAP skos:exactMatch hgnc.symbol:XIAP semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch ncbigene:8241 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:RBM10 semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch ncbigene:331 semapv:UnspecifiedMatching OMIM:300080 RBM10 skos:exactMatch UMLS:C1419296 semapv:UnspecifiedMatching OMIM:300080 RBM10 skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:RBM10 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch ncbigene:8241 semapv:UnspecifiedMatching OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:DNASE1L1 semapv:UnspecifiedMatching OMIM:300081 DNASE1L1 skos:exactMatch ncbigene:1774 semapv:UnspecifiedMatching -OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching OMIM:300083 PRKX skos:exactMatch ncbigene:5613 semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching OMIM:300084 NONO skos:exactMatch hgnc.symbol:NONO semapv:UnspecifiedMatching OMIM:300084 NONO skos:exactMatch ncbigene:4841 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:LPAR4 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch ncbigene:2846 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching -OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:IDH3G semapv:UnspecifiedMatching OMIM:300089 IDH3G skos:exactMatch ncbigene:3421 semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:IDH3G semapv:UnspecifiedMatching OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:SSR4 semapv:UnspecifiedMatching OMIM:300090 SSR4 skos:exactMatch ncbigene:6748 semapv:UnspecifiedMatching OMIM:300091 FIGF skos:exactMatch hgnc.symbol:VEGFD semapv:UnspecifiedMatching OMIM:300091 FIGF skos:exactMatch ncbigene:2277 semapv:UnspecifiedMatching OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:TEX28 semapv:UnspecifiedMatching OMIM:300092 TEX28 skos:exactMatch ncbigene:1527 semapv:UnspecifiedMatching -OMIM:300093 GABRE skos:exactMatch ncbigene:2564 semapv:UnspecifiedMatching OMIM:300093 GABRE skos:exactMatch hgnc.symbol:GABRE semapv:UnspecifiedMatching -OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:SLC16A2 semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch ncbigene:2564 semapv:UnspecifiedMatching OMIM:300095 SLC16A2 skos:exactMatch ncbigene:6567 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:SLC16A2 semapv:UnspecifiedMatching OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:TSPAN7 semapv:UnspecifiedMatching OMIM:300096 TSPAN7 skos:exactMatch ncbigene:7102 semapv:UnspecifiedMatching OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:MAGEB1 semapv:UnspecifiedMatching OMIM:300097 MAGEB1 skos:exactMatch ncbigene:4112 semapv:UnspecifiedMatching OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:MAGEB2 semapv:UnspecifiedMatching OMIM:300098 MAGEB2 skos:exactMatch ncbigene:4113 semapv:UnspecifiedMatching -OMIM:300101 BMX skos:exactMatch ncbigene:660 semapv:UnspecifiedMatching OMIM:300101 BMX skos:exactMatch hgnc.symbol:BMX semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch ncbigene:660 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch ncbigene:8228 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:PNPLA4 semapv:UnspecifiedMatching OMIM:300102 PNPLA4 skos:exactMatch UMLS:C1538687 semapv:UnspecifiedMatching OMIM:300102 PNPLA4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:PNPLA4 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch ncbigene:8228 semapv:UnspecifiedMatching OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:SHROOM2 semapv:UnspecifiedMatching OMIM:300103 SHROOM2 skos:exactMatch ncbigene:357 semapv:UnspecifiedMatching OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:GDI1 semapv:UnspecifiedMatching OMIM:300104 GDI1 skos:exactMatch ncbigene:2664 semapv:UnspecifiedMatching -OMIM:300105 SMS skos:exactMatch ncbigene:6611 semapv:UnspecifiedMatching OMIM:300105 SMS skos:exactMatch hgnc.symbol:SMS semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch ncbigene:6611 semapv:UnspecifiedMatching OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:BRS3 semapv:UnspecifiedMatching OMIM:300107 BRS3 skos:exactMatch ncbigene:680 semapv:UnspecifiedMatching -OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:DIAPH2 semapv:UnspecifiedMatching OMIM:300108 DIAPH2 skos:exactMatch ncbigene:1730 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:DIAPH2 semapv:UnspecifiedMatching OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:PPEF1 semapv:UnspecifiedMatching OMIM:300109 PPEF1 skos:exactMatch ncbigene:5475 semapv:UnspecifiedMatching OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:CACNA1F semapv:UnspecifiedMatching OMIM:300110 CACNA1F skos:exactMatch ncbigene:778 semapv:UnspecifiedMatching -OMIM:300111 PRICKLE3 skos:exactMatch ncbigene:4007 semapv:UnspecifiedMatching OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:PRICKLE3 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch ncbigene:4007 semapv:UnspecifiedMatching OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:PLP2 semapv:UnspecifiedMatching OMIM:300112 PLP2 skos:exactMatch ncbigene:5355 semapv:UnspecifiedMatching -OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:MTCP1 semapv:UnspecifiedMatching OMIM:300116 MTCP1 skos:exactMatch ncbigene:4515 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:MTCP1 semapv:UnspecifiedMatching OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:NAP1L3 semapv:UnspecifiedMatching OMIM:300117 NAP1L3 skos:exactMatch ncbigene:4675 semapv:UnspecifiedMatching OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:ARHGAP6 semapv:UnspecifiedMatching OMIM:300118 ARHGAP6 skos:exactMatch ncbigene:395 semapv:UnspecifiedMatching -OMIM:300119 IL13RA1 skos:exactMatch ncbigene:3597 semapv:UnspecifiedMatching OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:IL13RA1 semapv:UnspecifiedMatching -OMIM:300120 MAMLD1 skos:exactMatch ncbigene:10046 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch ncbigene:3597 semapv:UnspecifiedMatching OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:MAMLD1 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch ncbigene:10046 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch ncbigene:1641 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch hgnc.symbol:DCX semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C1413938 semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C1848070 semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch hgnc.symbol:DCX semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch ncbigene:1641 semapv:UnspecifiedMatching OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:GTPBP6 semapv:UnspecifiedMatching OMIM:300124 GTPBP6 skos:exactMatch ncbigene:8225 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch ncbigene:1736 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:DKC1 semapv:UnspecifiedMatching -OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:OPHN1 semapv:UnspecifiedMatching OMIM:300127 OPHN1 skos:exactMatch ncbigene:4983 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:OPHN1 semapv:UnspecifiedMatching OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:KDM6A semapv:UnspecifiedMatching OMIM:300128 KDM6A skos:exactMatch ncbigene:7403 semapv:UnspecifiedMatching OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:IL13RA2 semapv:UnspecifiedMatching OMIM:300130 IL13RA2 skos:exactMatch ncbigene:3598 semapv:UnspecifiedMatching OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:PLS3 semapv:UnspecifiedMatching OMIM:300131 PLS3 skos:exactMatch ncbigene:5358 semapv:UnspecifiedMatching -OMIM:300132 TRO skos:exactMatch ncbigene:7216 semapv:UnspecifiedMatching OMIM:300132 TRO skos:exactMatch hgnc.symbol:TRO semapv:UnspecifiedMatching -OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:VBP1 semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch ncbigene:7216 semapv:UnspecifiedMatching OMIM:300133 VBP1 skos:exactMatch ncbigene:7411 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:VBP1 semapv:UnspecifiedMatching OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:DUSP9 semapv:UnspecifiedMatching OMIM:300134 DUSP9 skos:exactMatch ncbigene:1852 semapv:UnspecifiedMatching OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:ABCB7 semapv:UnspecifiedMatching OMIM:300135 ABCB7 skos:exactMatch ncbigene:22 semapv:UnspecifiedMatching OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching -OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:IGSF1 semapv:UnspecifiedMatching -OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:CLIC2 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching OMIM:300138 CLIC2 skos:exactMatch ncbigene:1193 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:CLIC2 semapv:UnspecifiedMatching OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:IGBP1 semapv:UnspecifiedMatching OMIM:300139 IGBP1 skos:exactMatch ncbigene:3476 semapv:UnspecifiedMatching OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:PAK3 semapv:UnspecifiedMatching OMIM:300142 PAK3 skos:exactMatch ncbigene:5063 semapv:UnspecifiedMatching OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:GLUD2 semapv:UnspecifiedMatching OMIM:300144 GLUD2 skos:exactMatch ncbigene:2747 semapv:UnspecifiedMatching -OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:XPNPEP2 semapv:UnspecifiedMatching OMIM:300145 XPNPEP2 skos:exactMatch ncbigene:7512 semapv:UnspecifiedMatching -OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:XPNPEP2 semapv:UnspecifiedMatching OMIM:300146 CAPN6 skos:exactMatch ncbigene:827 semapv:UnspecifiedMatching -OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching OMIM:300148 mehmo syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching +OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:CITED1 semapv:UnspecifiedMatching OMIM:300149 CITED1 skos:exactMatch ncbigene:4435 semapv:UnspecifiedMatching OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:SLC25A5 semapv:UnspecifiedMatching @@ -7520,30 +7520,30 @@ OMIM:300164 INE1 skos:exactMatch hgnc.symbol:INE1 semapv:UnspecifiedMatching OMIM:300164 INE1 skos:exactMatch ncbigene:8552 semapv:UnspecifiedMatching OMIM:300165 INE2 skos:exactMatch hgnc.symbol:INE2 semapv:UnspecifiedMatching OMIM:300165 INE2 skos:exactMatch ncbigene:8551 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch UMLS:C1846265 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching OMIM:300167 HEPH skos:exactMatch hgnc.symbol:HEPH semapv:UnspecifiedMatching OMIM:300167 HEPH skos:exactMatch ncbigene:9843 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch UMLS:C1415196 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:GPC4 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch ncbigene:2239 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C5231520 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch ncbigene:9131 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:AIFM1 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C5231520 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C1826618 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1413833 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:OFD1 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch ncbigene:8481 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1413833 semapv:UnspecifiedMatching OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:MTMR1 semapv:UnspecifiedMatching OMIM:300171 MTMR1 skos:exactMatch ncbigene:8776 semapv:UnspecifiedMatching OMIM:300172 CASK skos:exactMatch hgnc.symbol:CASK semapv:UnspecifiedMatching @@ -7552,8 +7552,8 @@ OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:MAGEA2 semapv:UnspecifiedMatching OMIM:300173 MAGEA2 skos:exactMatch ncbigene:4101 semapv:UnspecifiedMatching OMIM:300174 MAGEA3 skos:exactMatch ncbigene:4102 semapv:UnspecifiedMatching OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:MAGEA3 semapv:UnspecifiedMatching -OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:MAGEA4 semapv:UnspecifiedMatching OMIM:300175 MAGEA4 skos:exactMatch ncbigene:4103 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:MAGEA4 semapv:UnspecifiedMatching OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:MAGEA6 semapv:UnspecifiedMatching OMIM:300176 MAGEA6 skos:exactMatch ncbigene:4105 semapv:UnspecifiedMatching OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:MAGEA12 semapv:UnspecifiedMatching @@ -7570,20 +7570,20 @@ OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:AKAP4 semapv:UnspecifiedMatching OMIM:300185 AKAP4 skos:exactMatch ncbigene:8852 semapv:UnspecifiedMatching OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:EIF1AX semapv:UnspecifiedMatching OMIM:300186 EIF1AX skos:exactMatch ncbigene:1964 semapv:UnspecifiedMatching -OMIM:300187 SRPX skos:exactMatch hgnc.symbol:SRPX semapv:UnspecifiedMatching OMIM:300187 SRPX skos:exactMatch ncbigene:8406 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch ncbigene:9968 semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch hgnc.symbol:SRPX semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch hgnc.symbol:MED12 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch ncbigene:9968 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C1537677 semapv:UnspecifiedMatching OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:DLG3 semapv:UnspecifiedMatching OMIM:300189 DLG3 skos:exactMatch ncbigene:1741 semapv:UnspecifiedMatching -OMIM:300190 SH3BGRL skos:exactMatch ncbigene:6451 semapv:UnspecifiedMatching OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:SH3BGRL semapv:UnspecifiedMatching -OMIM:300191 TSPAN6 skos:exactMatch ncbigene:7105 semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch ncbigene:6451 semapv:UnspecifiedMatching OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:TSPAN6 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch ncbigene:7105 semapv:UnspecifiedMatching OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:SSX2 semapv:UnspecifiedMatching OMIM:300192 SSX2 skos:exactMatch ncbigene:6757 semapv:UnspecifiedMatching OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:HMGB3 semapv:UnspecifiedMatching @@ -7600,8 +7600,8 @@ OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:ATP6AP1 semapv:UnspecifiedMatchi OMIM:300197 ATP6AP1 skos:exactMatch ncbigene:537 semapv:UnspecifiedMatching OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:GYG2 semapv:UnspecifiedMatching OMIM:300198 GYG2 skos:exactMatch ncbigene:8908 semapv:UnspecifiedMatching -OMIM:300199 RBMX skos:exactMatch hgnc.symbol:RBMX semapv:UnspecifiedMatching OMIM:300199 RBMX skos:exactMatch ncbigene:27316 semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch hgnc.symbol:RBMX semapv:UnspecifiedMatching OMIM:300201 CYSLTR1 skos:exactMatch ncbigene:10800 semapv:UnspecifiedMatching OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:CYSLTR1 semapv:UnspecifiedMatching OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:TRAPPC2 semapv:UnspecifiedMatching @@ -7629,10 +7629,10 @@ OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching OMIM:300213 CXX1 skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:PLXNB3 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch ncbigene:5365 semapv:UnspecifiedMatching -OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching -OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching +OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300217 RAI2 skos:exactMatch ncbigene:10742 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:ITM2A semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch ncbigene:9452 semapv:UnspecifiedMatching OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:MAGEC1 semapv:UnspecifiedMatching @@ -7643,29 +7643,29 @@ OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:NOX1 semapv:UnspecifiedMatching OMIM:300225 NOX1 skos:exactMatch ncbigene:27035 semapv:UnspecifiedMatching OMIM:300226 SMPX skos:exactMatch ncbigene:23676 semapv:UnspecifiedMatching OMIM:300226 SMPX skos:exactMatch hgnc.symbol:SMPX semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch UMLS:C1419851 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:SCML1 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch ncbigene:6322 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch UMLS:C1419851 semapv:UnspecifiedMatching -OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching OMIM:300229 VCX skos:exactMatch hgnc.symbol:VCX semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching OMIM:300230 CA5B skos:exactMatch hgnc.symbol:CA5B semapv:UnspecifiedMatching OMIM:300230 CA5B skos:exactMatch ncbigene:11238 semapv:UnspecifiedMatching OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:SLC9A6 semapv:UnspecifiedMatching OMIM:300231 SLC9A6 skos:exactMatch ncbigene:10479 semapv:UnspecifiedMatching -OMIM:300234 UXT skos:exactMatch hgnc.symbol:UXT semapv:UnspecifiedMatching OMIM:300234 UXT skos:exactMatch ncbigene:8409 semapv:UnspecifiedMatching -OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:ZXDA semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch hgnc.symbol:UXT semapv:UnspecifiedMatching OMIM:300235 ZXDA skos:exactMatch ncbigene:7789 semapv:UnspecifiedMatching -OMIM:300236 ZXDB skos:exactMatch ncbigene:158586 semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:ZXDA semapv:UnspecifiedMatching OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:ZXDB semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch ncbigene:158586 semapv:UnspecifiedMatching OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:TCEAL1 semapv:UnspecifiedMatching OMIM:300237 TCEAL1 skos:exactMatch ncbigene:9338 semapv:UnspecifiedMatching OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:EGFL6 semapv:UnspecifiedMatching OMIM:300239 EGFL6 skos:exactMatch ncbigene:25975 semapv:UnspecifiedMatching OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:GPR34 semapv:UnspecifiedMatching OMIM:300241 GPR34 skos:exactMatch ncbigene:2857 semapv:UnspecifiedMatching -OMIM:300242 SLC25A14 skos:exactMatch ncbigene:9016 semapv:UnspecifiedMatching OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:SLC25A14 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch ncbigene:9016 semapv:UnspecifiedMatching OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching OMIM:300244 terminal osseous dysplasia skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching @@ -7678,69 +7678,69 @@ OMIM:300248 IKBKG skos:exactMatch ncbigene:8517 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:IKBKG semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C5394563 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C5394562 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C1416380 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C4749069 semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:TIMM17B semapv:UnspecifiedMatching OMIM:300249 TIMM17B skos:exactMatch UMLS:C1424892 semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:TIMM17B semapv:UnspecifiedMatching OMIM:300249 TIMM17B skos:exactMatch ncbigene:10245 semapv:UnspecifiedMatching -OMIM:300252 PIN4 skos:exactMatch ncbigene:5303 semapv:UnspecifiedMatching OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:PIN4 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch ncbigene:5303 semapv:UnspecifiedMatching OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:GPR173 semapv:UnspecifiedMatching OMIM:300253 GPR173 skos:exactMatch ncbigene:54328 semapv:UnspecifiedMatching OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:SUV39H1 semapv:UnspecifiedMatching OMIM:300254 SUV39H1 skos:exactMatch ncbigene:6839 semapv:UnspecifiedMatching OMIM:300255 OGT skos:exactMatch hgnc.symbol:OGT semapv:UnspecifiedMatching OMIM:300255 OGT skos:exactMatch ncbigene:8473 semapv:UnspecifiedMatching -OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:HSD17B10 semapv:UnspecifiedMatching OMIM:300256 HSD17B10 skos:exactMatch ncbigene:3028 semapv:UnspecifiedMatching -OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:HSD17B10 semapv:UnspecifiedMatching OMIM:300257 danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching +OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching -OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:UBQLN2 semapv:UnspecifiedMatching OMIM:300264 UBQLN2 skos:exactMatch ncbigene:29978 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C4016468 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:UBQLN2 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch ncbigene:7547 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:ZIC3 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C4016468 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C1421583 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C1421583 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:ARHGEF6 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch ncbigene:9459 semapv:UnspecifiedMatching -OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:HDAC8 semapv:UnspecifiedMatching OMIM:300269 HDAC8 skos:exactMatch ncbigene:55869 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:HDAC8 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch UMLS:C1333895 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:NSDHL semapv:UnspecifiedMatching OMIM:300275 NSDHL skos:exactMatch ncbigene:50814 semapv:UnspecifiedMatching OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:EDA2R semapv:UnspecifiedMatching OMIM:300276 EDA2R skos:exactMatch ncbigene:60401 semapv:UnspecifiedMatching OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:IL1RAPL2 semapv:UnspecifiedMatching OMIM:300277 IL1RAPL2 skos:exactMatch ncbigene:26280 semapv:UnspecifiedMatching -OMIM:300278 NYX skos:exactMatch ncbigene:60506 semapv:UnspecifiedMatching OMIM:300278 NYX skos:exactMatch hgnc.symbol:NYX semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch ncbigene:60506 semapv:UnspecifiedMatching OMIM:300280 uruguay faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching -OMIM:300281 KCND1 skos:exactMatch ncbigene:3750 semapv:UnspecifiedMatching OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:KCND1 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch ncbigene:3750 semapv:UnspecifiedMatching OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:ENOX2 semapv:UnspecifiedMatching OMIM:300282 ENOX2 skos:exactMatch ncbigene:10495 semapv:UnspecifiedMatching OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:IRAK1 semapv:UnspecifiedMatching OMIM:300283 IRAK1 skos:exactMatch ncbigene:3654 semapv:UnspecifiedMatching OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:RAB9A semapv:UnspecifiedMatching OMIM:300284 RAB9 skos:exactMatch ncbigene:9367 semapv:UnspecifiedMatching -OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:RAB9B semapv:UnspecifiedMatching OMIM:300285 RAB9B skos:exactMatch ncbigene:51209 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch ncbigene:11279 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:KLF8 semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:RAB9B semapv:UnspecifiedMatching OMIM:300286 KLF8 skos:exactMatch UMLS:C1416663 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:KLF8 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch ncbigene:11279 semapv:UnspecifiedMatching OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:PAGE4 semapv:UnspecifiedMatching OMIM:300287 PAGE4 skos:exactMatch ncbigene:9506 semapv:UnspecifiedMatching OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:PAGE1 semapv:UnspecifiedMatching @@ -7750,38 +7750,38 @@ OMIM:300289 XAGE1B skos:exactMatch ncbigene:653067 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1845919 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch UMLS:C0342288 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch UMLS:C1416467 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:FOXP3 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch ncbigene:50943 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch ncbigene:51360 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:MBTPS2 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch ncbigene:51360 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C1423501 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C1423501 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:PIM2 semapv:UnspecifiedMatching OMIM:300295 PIM2 skos:exactMatch ncbigene:11040 semapv:UnspecifiedMatching OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:PLAC1 semapv:UnspecifiedMatching OMIM:300296 PLAC1 skos:exactMatch ncbigene:10761 semapv:UnspecifiedMatching OMIM:300297 APLN skos:exactMatch ncbigene:8862 semapv:UnspecifiedMatching OMIM:300297 APLN skos:exactMatch hgnc.symbol:APLN semapv:UnspecifiedMatching -OMIM:300298 UPF3B skos:exactMatch ncbigene:65109 semapv:UnspecifiedMatching OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:UPF3B semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch ncbigene:65109 semapv:UnspecifiedMatching OMIM:300300 BTK skos:exactMatch hgnc.symbol:BTK semapv:UnspecifiedMatching OMIM:300300 BTK skos:exactMatch ncbigene:695 semapv:UnspecifiedMatching OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:DYNLT3 semapv:UnspecifiedMatching OMIM:300302 DYNLT3 skos:exactMatch ncbigene:6990 semapv:UnspecifiedMatching -OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:RPS6KA6 semapv:UnspecifiedMatching OMIM:300303 RPS6KA6 skos:exactMatch ncbigene:27330 semapv:UnspecifiedMatching -OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:CUL4B semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:RPS6KA6 semapv:UnspecifiedMatching OMIM:300304 CUL4B skos:exactMatch ncbigene:8450 semapv:UnspecifiedMatching -OMIM:300305 SPANXA1 skos:exactMatch ncbigene:30014 semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:CUL4B semapv:UnspecifiedMatching OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:SPANXA1 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch ncbigene:30014 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1420611 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1844830 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1844831 semapv:UnspecifiedMatching @@ -7790,58 +7790,58 @@ OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:TBX22 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch ncbigene:50945 semapv:UnspecifiedMatching OMIM:300308 FTHL17 skos:exactMatch ncbigene:53940 semapv:UnspecifiedMatching OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:FTHL17 semapv:UnspecifiedMatching -OMIM:300309 USP26 skos:exactMatch ncbigene:83844 semapv:UnspecifiedMatching OMIM:300309 USP26 skos:exactMatch hgnc.symbol:USP26 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch ncbigene:83844 semapv:UnspecifiedMatching OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:TEX11 semapv:UnspecifiedMatching OMIM:300311 TEX11 skos:exactMatch ncbigene:56159 semapv:UnspecifiedMatching OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:TEX13A semapv:UnspecifiedMatching OMIM:300312 TEX13A skos:exactMatch ncbigene:56157 semapv:UnspecifiedMatching -OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:TEX13B semapv:UnspecifiedMatching OMIM:300313 TEX13B skos:exactMatch ncbigene:56156 semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:TAF7L semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:TEX13B semapv:UnspecifiedMatching OMIM:300314 TAF7L skos:exactMatch ncbigene:54457 semapv:UnspecifiedMatching OMIM:300314 TAF7L skos:exactMatch UMLS:C1420574 semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:TAF7L semapv:UnspecifiedMatching OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:NXF2 semapv:UnspecifiedMatching OMIM:300315 NXF2 skos:exactMatch ncbigene:56001 semapv:UnspecifiedMatching OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:NXF3 semapv:UnspecifiedMatching OMIM:300316 NXF3 skos:exactMatch ncbigene:56000 semapv:UnspecifiedMatching OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:REPS2 semapv:UnspecifiedMatching OMIM:300317 REPS2 skos:exactMatch ncbigene:9185 semapv:UnspecifiedMatching -OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:NXF4 semapv:UnspecifiedMatching OMIM:300318 NXF4 skos:exactMatch ncbigene:55999 semapv:UnspecifiedMatching -OMIM:300319 NXF5 skos:exactMatch ncbigene:55998 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:NXF4 semapv:UnspecifiedMatching OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:NXF5 semapv:UnspecifiedMatching -OMIM:300320 NXT2 skos:exactMatch ncbigene:55916 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch ncbigene:55998 semapv:UnspecifiedMatching OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:NXT2 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch ncbigene:55916 semapv:UnspecifiedMatching OMIM:300322 lesch-nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching OMIM:300322 lesch-nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching OMIM:300323 hyperuricemia, hprt-related skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching OMIM:300323 hyperuricemia, hprt-related skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching -OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching OMIM:300325 SSX3 skos:exactMatch ncbigene:10214 semapv:UnspecifiedMatching -OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:SSX4 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching OMIM:300326 SSX4 skos:exactMatch ncbigene:6759 semapv:UnspecifiedMatching -OMIM:300327 SSX5 skos:exactMatch ncbigene:6758 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:SSX4 semapv:UnspecifiedMatching OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:SSX5 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch ncbigene:6758 semapv:UnspecifiedMatching OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:KCNE5 semapv:UnspecifiedMatching OMIM:300328 KCNE1L skos:exactMatch ncbigene:23630 semapv:UnspecifiedMatching OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:ZBTB33 semapv:UnspecifiedMatching OMIM:300329 ZBTB33 skos:exactMatch ncbigene:10009 semapv:UnspecifiedMatching OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:SPANXC semapv:UnspecifiedMatching OMIM:300330 SPANXC skos:exactMatch ncbigene:64663 semapv:UnspecifiedMatching -OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:ITGB1BP2 semapv:UnspecifiedMatching OMIM:300332 ITGB1BP2 skos:exactMatch ncbigene:26548 semapv:UnspecifiedMatching -OMIM:300333 RAB33A skos:exactMatch ncbigene:9363 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:ITGB1BP2 semapv:UnspecifiedMatching OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:RAB33A semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch ncbigene:9363 semapv:UnspecifiedMatching OMIM:300334 TRPC5 skos:exactMatch UMLS:C1421172 semapv:UnspecifiedMatching OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:TRPC5 semapv:UnspecifiedMatching OMIM:300334 TRPC5 skos:exactMatch ncbigene:7224 semapv:UnspecifiedMatching OMIM:300335 ACE2 skos:exactMatch UMLS:C1422064 semapv:UnspecifiedMatching OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:ACE2 semapv:UnspecifiedMatching OMIM:300335 ACE2 skos:exactMatch ncbigene:59272 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch UMLS:C3151708 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch ncbigene:54413 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:NLGN3 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch UMLS:C3151708 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch UMLS:C1845540 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch UMLS:C1422546 semapv:UnspecifiedMatching OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:CNGA2 semapv:UnspecifiedMatching @@ -7850,21 +7850,21 @@ OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:PPP2R3B semapv:UnspecifiedMatchi OMIM:300339 PPP2R3B skos:exactMatch ncbigene:28227 semapv:UnspecifiedMatching OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:MAGEA5P semapv:UnspecifiedMatching OMIM:300340 MAGEA5 skos:exactMatch ncbigene:4104 semapv:UnspecifiedMatching -OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:MAGEA8 semapv:UnspecifiedMatching OMIM:300341 MAGEA8 skos:exactMatch ncbigene:4107 semapv:UnspecifiedMatching -OMIM:300342 MAGEA9 skos:exactMatch ncbigene:4108 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:MAGEA8 semapv:UnspecifiedMatching OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:MAGEA9 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch ncbigene:4108 semapv:UnspecifiedMatching OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:MAGEA10 semapv:UnspecifiedMatching OMIM:300343 MAGEA10 skos:exactMatch ncbigene:4109 semapv:UnspecifiedMatching OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:MAGEA11 semapv:UnspecifiedMatching OMIM:300344 MAGEA11 skos:exactMatch ncbigene:4110 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch ncbigene:27336 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch UMLS:C1415794 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:HTATSF1 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch ncbigene:27336 semapv:UnspecifiedMatching -OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:DIAPH2-AS1 semapv:UnspecifiedMatching OMIM:300347 DIAPH2AS1 skos:exactMatch ncbigene:10824 semapv:UnspecifiedMatching -OMIM:300348 KLHL4 skos:exactMatch ncbigene:56062 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:DIAPH2-AS1 semapv:UnspecifiedMatching OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:KLHL4 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch ncbigene:56062 semapv:UnspecifiedMatching OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:GABRQ semapv:UnspecifiedMatching OMIM:300349 GABRQ skos:exactMatch ncbigene:55879 semapv:UnspecifiedMatching OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:CHRDL1 semapv:UnspecifiedMatching @@ -7873,39 +7873,39 @@ OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:VSIG4 semapv:UnspecifiedMatching OMIM:300353 VSIG4 skos:exactMatch ncbigene:11326 semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch ncbigene:1678 semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:TIMM8A semapv:UnspecifiedMatching -OMIM:300357 CRLF2 skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:WNK3 semapv:UnspecifiedMatching OMIM:300358 WNK3 skos:exactMatch ncbigene:65267 semapv:UnspecifiedMatching OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:SAGE1 semapv:UnspecifiedMatching OMIM:300359 SAGE1 skos:exactMatch ncbigene:55511 semapv:UnspecifiedMatching -OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:BEX3 semapv:UnspecifiedMatching OMIM:300361 NGFRAP1 skos:exactMatch ncbigene:27018 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch UMLS:C1538939 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:ARMCX1 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:BEX3 semapv:UnspecifiedMatching OMIM:300362 ARMCX1 skos:exactMatch ncbigene:51309 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:ARMCX1 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch UMLS:C1538939 semapv:UnspecifiedMatching OMIM:300363 ARMCX2 skos:exactMatch UMLS:C1538940 semapv:UnspecifiedMatching OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:ARMCX2 semapv:UnspecifiedMatching OMIM:300363 ARMCX2 skos:exactMatch ncbigene:9823 semapv:UnspecifiedMatching OMIM:300364 ARMCX3 skos:exactMatch UMLS:C1538941 semapv:UnspecifiedMatching OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:ARMCX3 semapv:UnspecifiedMatching OMIM:300364 ARMCX3 skos:exactMatch ncbigene:51566 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:TLR7 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch ncbigene:51284 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:TLR7 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch UMLS:C1336639 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch UMLS:C5436946 semapv:UnspecifiedMatching -OMIM:300366 TLR8 skos:exactMatch ncbigene:51311 semapv:UnspecifiedMatching OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:TLR8 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch ncbigene:51311 semapv:UnspecifiedMatching OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:SLC9A7 semapv:UnspecifiedMatching OMIM:300368 SLC9A7 skos:exactMatch ncbigene:84679 semapv:UnspecifiedMatching OMIM:300369 GCNA skos:exactMatch hgnc.symbol:GCNA semapv:UnspecifiedMatching OMIM:300369 GCNA skos:exactMatch ncbigene:93953 semapv:UnspecifiedMatching -OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:TREX2 semapv:UnspecifiedMatching OMIM:300370 TREX2 skos:exactMatch ncbigene:11219 semapv:UnspecifiedMatching -OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:TREX2 semapv:UnspecifiedMatching OMIM:300371 ABCD1 skos:exactMatch ncbigene:215 semapv:UnspecifiedMatching -OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching +OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:SH3KBP1 semapv:UnspecifiedMatching OMIM:300374 SH3KBP1 skos:exactMatch ncbigene:30011 semapv:UnspecifiedMatching OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:CHST7 semapv:UnspecifiedMatching @@ -7914,28 +7914,28 @@ OMIM:300377 DMD skos:exactMatch hgnc.symbol:DMD semapv:UnspecifiedMatching OMIM:300377 DMD skos:exactMatch ncbigene:1756 semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch ncbigene:51132 semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch hgnc.symbol:RLIM semapv:UnspecifiedMatching -OMIM:300380 CTPS2 skos:exactMatch ncbigene:56474 semapv:UnspecifiedMatching OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:CTPS2 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch ncbigene:56474 semapv:UnspecifiedMatching OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:ZNF185 semapv:UnspecifiedMatching OMIM:300381 ZNF185 skos:exactMatch ncbigene:7739 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch ncbigene:170302 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch hgnc.symbol:ARX semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C1846172 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C1425272 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300383 CFP skos:exactMatch hgnc.symbol:CFP semapv:UnspecifiedMatching OMIM:300383 CFP skos:exactMatch ncbigene:5199 semapv:UnspecifiedMatching OMIM:300384 EMD skos:exactMatch hgnc.symbol:EMD semapv:UnspecifiedMatching OMIM:300384 EMD skos:exactMatch ncbigene:2010 semapv:UnspecifiedMatching -OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:HMGN5 semapv:UnspecifiedMatching OMIM:300385 NSBP1 skos:exactMatch ncbigene:79366 semapv:UnspecifiedMatching -OMIM:300386 CD40LG skos:exactMatch ncbigene:959 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:HMGN5 semapv:UnspecifiedMatching OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:CD40LG semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch ncbigene:959 semapv:UnspecifiedMatching OMIM:300390 CHM skos:exactMatch hgnc.symbol:CHM semapv:UnspecifiedMatching OMIM:300390 CHM skos:exactMatch ncbigene:1121 semapv:UnspecifiedMatching OMIM:300391 AMELX skos:exactMatch hgnc.symbol:AMELX semapv:UnspecifiedMatching @@ -7946,48 +7946,48 @@ OMIM:300393 GPR101 skos:exactMatch ncbigene:83550 semapv:UnspecifiedMatching OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:GPR101 semapv:UnspecifiedMatching OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:TAFAZZIN semapv:UnspecifiedMatching OMIM:300394 TAFAZZIN skos:exactMatch ncbigene:6901 semapv:UnspecifiedMatching -OMIM:300395 THOC2 skos:exactMatch ncbigene:57187 semapv:UnspecifiedMatching OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:THOC2 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch ncbigene:57187 semapv:UnspecifiedMatching OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:CTAG2 semapv:UnspecifiedMatching OMIM:300396 CTAG2 skos:exactMatch ncbigene:30848 semapv:UnspecifiedMatching OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:BCAP31 semapv:UnspecifiedMatching OMIM:300398 BCAP31 skos:exactMatch ncbigene:10134 semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch UMLS:C1424886 semapv:UnspecifiedMatching OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:PCSK1N semapv:UnspecifiedMatching OMIM:300399 PCSK1N skos:exactMatch ncbigene:27344 semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch UMLS:C1424886 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch ncbigene:5354 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C4016484 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:PLP1 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C4016483 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C1418654 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:PLP1 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C0751915 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C0751604 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C1418654 semapv:UnspecifiedMatching OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:LDOC1 semapv:UnspecifiedMatching OMIM:300402 LDOC1 skos:exactMatch ncbigene:23641 semapv:UnspecifiedMatching OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:NDUFB11 semapv:UnspecifiedMatching OMIM:300403 NDUFB11 skos:exactMatch ncbigene:54539 semapv:UnspecifiedMatching OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:RAB40AL semapv:UnspecifiedMatching OMIM:300405 RAB40AL skos:exactMatch ncbigene:282808 semapv:UnspecifiedMatching -OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching OMIM:300407 PABPC5 skos:exactMatch ncbigene:140886 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:GRIPAP1 semapv:UnspecifiedMatching OMIM:300408 GRIPAP1 skos:exactMatch ncbigene:56850 semapv:UnspecifiedMatching OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:MORF4L2 semapv:UnspecifiedMatching OMIM:300409 MORF4L2 skos:exactMatch ncbigene:9643 semapv:UnspecifiedMatching OMIM:300410 AMOT skos:exactMatch hgnc.symbol:AMOT semapv:UnspecifiedMatching OMIM:300410 AMOT skos:exactMatch ncbigene:154796 semapv:UnspecifiedMatching -OMIM:300411 TGIF2LX skos:exactMatch ncbigene:90316 semapv:UnspecifiedMatching OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:TGIF2LX semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch ncbigene:90316 semapv:UnspecifiedMatching OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:MBNL3 semapv:UnspecifiedMatching OMIM:300413 MBNL3 skos:exactMatch ncbigene:55796 semapv:UnspecifiedMatching OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:PHF6 semapv:UnspecifiedMatching OMIM:300414 PHF6 skos:exactMatch ncbigene:84295 semapv:UnspecifiedMatching OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:MTM1 semapv:UnspecifiedMatching OMIM:300415 MTM1 skos:exactMatch ncbigene:4534 semapv:UnspecifiedMatching -OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:XAGE2 semapv:UnspecifiedMatching OMIM:300416 XAGE2 skos:exactMatch ncbigene:9502 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:XAGE2 semapv:UnspecifiedMatching OMIM:300417 GPRASP1 skos:exactMatch ncbigene:9737 semapv:UnspecifiedMatching OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:GPRASP1 semapv:UnspecifiedMatching OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:GSPT2 semapv:UnspecifiedMatching @@ -7996,19 +7996,19 @@ OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch UML OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:PJA1 semapv:UnspecifiedMatching OMIM:300420 PJA1 skos:exactMatch ncbigene:64219 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching -OMIM:300424 retinitis pigmentosa 23 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:300424 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch UMLS:C1538067 semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch UMLS:C3151722 semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch hgnc.symbol:NLGN4X semapv:UnspecifiedMatching -OMIM:300427 NLGN4 skos:exactMatch ncbigene:57502 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:ARHGEF9 semapv:UnspecifiedMatching +OMIM:300424 retinitis pigmentosa 23 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch ncbigene:57502 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1538067 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C3151722 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:NLGN4X semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch ncbigene:23229 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:ARHGEF9 semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1422758 semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching OMIM:300431 atkin-flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching @@ -8017,8 +8017,8 @@ OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:PGRMC1 semapv:UnspecifiedMatching OMIM:300435 PGRMC1 skos:exactMatch ncbigene:10857 semapv:UnspecifiedMatching OMIM:300437 ERAS skos:exactMatch hgnc.symbol:ERAS semapv:UnspecifiedMatching OMIM:300437 ERAS skos:exactMatch ncbigene:3266 semapv:UnspecifiedMatching -OMIM:300439 RNF128 skos:exactMatch ncbigene:79589 semapv:UnspecifiedMatching OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:RNF128 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch ncbigene:79589 semapv:UnspecifiedMatching OMIM:300440 NKRF skos:exactMatch ncbigene:55922 semapv:UnspecifiedMatching OMIM:300440 NKRF skos:exactMatch hgnc.symbol:NKRF semapv:UnspecifiedMatching OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:SASH3 semapv:UnspecifiedMatching @@ -8027,8 +8027,8 @@ OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:SLC7A3 semapv:UnspecifiedMatching OMIM:300443 SLC7A3 skos:exactMatch ncbigene:84889 semapv:UnspecifiedMatching OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:SLC6A14 semapv:UnspecifiedMatching OMIM:300444 SLC6A14 skos:exactMatch ncbigene:11254 semapv:UnspecifiedMatching -OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:H2AB3 semapv:UnspecifiedMatching OMIM:300445 H2AB3 skos:exactMatch ncbigene:83740 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:H2AB3 semapv:UnspecifiedMatching OMIM:300446 RHOXF1 skos:exactMatch ncbigene:158800 semapv:UnspecifiedMatching OMIM:300446 RHOXF1 skos:exactMatch UMLS:C1845515 semapv:UnspecifiedMatching OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:RHOXF1 semapv:UnspecifiedMatching @@ -8047,9 +8047,9 @@ OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:FAM50A semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch ncbigene:9130 semapv:UnspecifiedMatching OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:CCNB3 semapv:UnspecifiedMatching OMIM:300456 CCNB3 skos:exactMatch ncbigene:85417 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch ncbigene:4810 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch hgnc.symbol:NHS semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch UMLS:C1417725 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching OMIM:300459 TNMD skos:exactMatch hgnc.symbol:TNMD semapv:UnspecifiedMatching @@ -8058,10 +8058,10 @@ OMIM:300460 PCDH19 skos:exactMatch UMLS:C1422530 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:PCDH19 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch ncbigene:57526 semapv:UnspecifiedMatching -OMIM:300461 OTC skos:exactMatch hgnc.symbol:OTC semapv:UnspecifiedMatching OMIM:300461 OTC skos:exactMatch ncbigene:5009 semapv:UnspecifiedMatching -OMIM:300462 AKAP14 skos:exactMatch ncbigene:158798 semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch hgnc.symbol:OTC semapv:UnspecifiedMatching OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:AKAP14 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch ncbigene:158798 semapv:UnspecifiedMatching OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:PQBP1 semapv:UnspecifiedMatching OMIM:300463 PQBP1 skos:exactMatch ncbigene:10084 semapv:UnspecifiedMatching OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:MAGEB5 semapv:UnspecifiedMatching @@ -8078,17 +8078,17 @@ OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:NR0B1 semapv:UnspecifiedMatching OMIM:300473 NR0B1 skos:exactMatch ncbigene:190 semapv:UnspecifiedMatching OMIM:300474 GK skos:exactMatch hgnc.symbol:GK semapv:UnspecifiedMatching OMIM:300474 GK skos:exactMatch ncbigene:2710 semapv:UnspecifiedMatching -OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:FAM9A semapv:UnspecifiedMatching OMIM:300477 FAM9A skos:exactMatch ncbigene:171482 semapv:UnspecifiedMatching -OMIM:300478 FAM9B skos:exactMatch ncbigene:171483 semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:FAM9A semapv:UnspecifiedMatching OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:FAM9B semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch ncbigene:171483 semapv:UnspecifiedMatching OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:FAM9C semapv:UnspecifiedMatching OMIM:300479 FAM9C skos:exactMatch ncbigene:171484 semapv:UnspecifiedMatching OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:TAB3 semapv:UnspecifiedMatching OMIM:300480 TAB3 skos:exactMatch ncbigene:257397 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch ncbigene:1536 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch hgnc.symbol:CYBB semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C4016486 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch ncbigene:1536 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1413844 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching @@ -8101,16 +8101,16 @@ OMIM:300485 BCOR skos:exactMatch hgnc.symbol:BCOR semapv:UnspecifiedMatching OMIM:300485 BCOR skos:exactMatch ncbigene:54880 semapv:UnspecifiedMatching OMIM:300487 ACTRT1 skos:exactMatch ncbigene:139741 semapv:UnspecifiedMatching OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:ACTRT1 semapv:UnspecifiedMatching -OMIM:300490 SH2D1A skos:exactMatch ncbigene:4068 semapv:UnspecifiedMatching OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:SH2D1A semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch ncbigene:4068 semapv:UnspecifiedMatching OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:FAM3A semapv:UnspecifiedMatching OMIM:300492 FAM3A skos:exactMatch ncbigene:60343 semapv:UnspecifiedMatching OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:SPANXA2 semapv:UnspecifiedMatching OMIM:300493 SPANXA2 skos:exactMatch ncbigene:728712 semapv:UnspecifiedMatching OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:FTSJ1 semapv:UnspecifiedMatching OMIM:300499 FTSJ1 skos:exactMatch ncbigene:24140 semapv:UnspecifiedMatching -OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching OMIM:300502 PDHA1 skos:exactMatch ncbigene:5160 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch ncbigene:1831 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:TSC22D3 semapv:UnspecifiedMatching OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:H2BW1 semapv:UnspecifiedMatching @@ -8129,8 +8129,8 @@ OMIM:300515 FANCB skos:exactMatch hgnc.symbol:FANCB semapv:UnspecifiedMatching OMIM:300515 FANCB skos:exactMatch ncbigene:2187 semapv:UnspecifiedMatching OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:ATP11C semapv:UnspecifiedMatching OMIM:300516 ATP11C skos:exactMatch ncbigene:286410 semapv:UnspecifiedMatching -OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:SPIN2B semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch ncbigene:9075 semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:CLDN2 semapv:UnspecifiedMatching OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:KIF4A semapv:UnspecifiedMatching @@ -8140,12 +8140,12 @@ OMIM:300522 IQSEC2 skos:exactMatch ncbigene:23096 semapv:UnspecifiedMatching OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching -OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:NEXMIF semapv:UnspecifiedMatching OMIM:300524 NEXMIF skos:exactMatch ncbigene:340533 semapv:UnspecifiedMatching -OMIM:300525 P2RY8 skos:exactMatch ncbigene:286530 semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:NEXMIF semapv:UnspecifiedMatching OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:P2RY8 semapv:UnspecifiedMatching -OMIM:300526 WDR45 skos:exactMatch ncbigene:11152 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch ncbigene:286530 semapv:UnspecifiedMatching OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:WDR45 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch ncbigene:11152 semapv:UnspecifiedMatching OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:NUDT10 semapv:UnspecifiedMatching OMIM:300527 NUDT10 skos:exactMatch ncbigene:170685 semapv:UnspecifiedMatching OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:NUDT11 semapv:UnspecifiedMatching @@ -8161,53 +8161,53 @@ OMIM:300533 VCX3A skos:exactMatch ncbigene:51481 semapv:UnspecifiedMatching OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch ncbigene:4952 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch UMLS:C1417931 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch hgnc.symbol:OCRL semapv:UnspecifiedMatching -OMIM:300538 AVPR2 skos:exactMatch ncbigene:554 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch UMLS:C1417931 semapv:UnspecifiedMatching OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:AVPR2 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch ncbigene:554 semapv:UnspecifiedMatching OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:HAUS7 semapv:UnspecifiedMatching OMIM:300540 HAUS7 skos:exactMatch ncbigene:55559 semapv:UnspecifiedMatching OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:SSX6P semapv:UnspecifiedMatching OMIM:300541 SSX6 skos:exactMatch ncbigene:280657 semapv:UnspecifiedMatching OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:SSX7 semapv:UnspecifiedMatching OMIM:300542 SSX7 skos:exactMatch ncbigene:280658 semapv:UnspecifiedMatching -OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:SSX8P semapv:UnspecifiedMatching OMIM:300543 SSX8 skos:exactMatch ncbigene:280659 semapv:UnspecifiedMatching -OMIM:300544 SSX9 skos:exactMatch ncbigene:280660 semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:SSX8P semapv:UnspecifiedMatching OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:SSX9P semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch ncbigene:280660 semapv:UnspecifiedMatching OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:HS6ST2 semapv:UnspecifiedMatching OMIM:300545 HS6ST2 skos:exactMatch ncbigene:90161 semapv:UnspecifiedMatching OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:FGD1 semapv:UnspecifiedMatching OMIM:300546 FGD1 skos:exactMatch ncbigene:2245 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch UMLS:C1845191 semapv:UnspecifiedMatching OMIM:300547 STK26 skos:exactMatch hgnc.symbol:STK26 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch UMLS:C1845191 semapv:UnspecifiedMatching OMIM:300547 STK26 skos:exactMatch ncbigene:51765 semapv:UnspecifiedMatching -OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:MAGEH1 semapv:UnspecifiedMatching OMIM:300548 MAGEH1 skos:exactMatch ncbigene:28986 semapv:UnspecifiedMatching -OMIM:300549 MAGEA2B skos:exactMatch ncbigene:266740 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:MAGEH1 semapv:UnspecifiedMatching OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:MAGEA2B semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch ncbigene:266740 semapv:UnspecifiedMatching OMIM:300550 PHEX skos:exactMatch hgnc.symbol:PHEX semapv:UnspecifiedMatching OMIM:300550 PHEX skos:exactMatch ncbigene:5251 semapv:UnspecifiedMatching OMIM:300552 MID1 skos:exactMatch hgnc.symbol:MID1 semapv:UnspecifiedMatching OMIM:300552 MID1 skos:exactMatch ncbigene:4281 semapv:UnspecifiedMatching -OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:BRWD3 semapv:UnspecifiedMatching OMIM:300553 BRWD3 skos:exactMatch ncbigene:254065 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:BRWD3 semapv:UnspecifiedMatching OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch UMLS:C1845168 semapv:UnspecifiedMatching OMIM:300555 dent disease 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching OMIM:300555 dent disease 2 skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching OMIM:300555 dent disease 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch ncbigene:10159 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1425435 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1425435 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching -OMIM:300560 PHF8 skos:exactMatch ncbigene:23133 semapv:UnspecifiedMatching OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:PHF8 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch ncbigene:23133 semapv:UnspecifiedMatching OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:SLITRK2 semapv:UnspecifiedMatching OMIM:300561 SLITRK2 skos:exactMatch ncbigene:84631 semapv:UnspecifiedMatching OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:SLITRK4 semapv:UnspecifiedMatching @@ -8224,20 +8224,20 @@ OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:MIR222 semapv:UnspecifiedMatching OMIM:300569 MIR222 skos:exactMatch ncbigene:407007 semapv:UnspecifiedMatching OMIM:300570 YY2 skos:exactMatch hgnc.symbol:YY2 semapv:UnspecifiedMatching OMIM:300570 YY2 skos:exactMatch ncbigene:404281 semapv:UnspecifiedMatching -OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:ADGRG2 semapv:UnspecifiedMatching OMIM:300572 ADGRG2 skos:exactMatch ncbigene:10149 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:ADGRG2 semapv:UnspecifiedMatching OMIM:300573 ZNF674 skos:exactMatch ncbigene:641339 semapv:UnspecifiedMatching OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:ZNF674 semapv:UnspecifiedMatching -OMIM:300574 CXCR3 skos:exactMatch ncbigene:2833 semapv:UnspecifiedMatching OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:CXCR3 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch ncbigene:2833 semapv:UnspecifiedMatching OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:RIPPLY1 semapv:UnspecifiedMatching OMIM:300575 RIPPLY1 skos:exactMatch ncbigene:92129 semapv:UnspecifiedMatching OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:ZDHHC15 semapv:UnspecifiedMatching OMIM:300576 ZDHHC15 skos:exactMatch ncbigene:158866 semapv:UnspecifiedMatching OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:SHROOM4 semapv:UnspecifiedMatching OMIM:300579 SHROOM4 skos:exactMatch ncbigene:57477 semapv:UnspecifiedMatching -OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching OMIM:300583 VGLL1 skos:exactMatch ncbigene:51442 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching OMIM:300585 ZNF673 skos:exactMatch ncbigene:55634 semapv:UnspecifiedMatching OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:KRBOX4 semapv:UnspecifiedMatching OMIM:300586 ARSH skos:exactMatch hgnc.symbol:ARSH semapv:UnspecifiedMatching @@ -8264,14 +8264,14 @@ OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:GAGE6 semapv:UnspecifiedMatching OMIM:300599 GAGE6 skos:exactMatch ncbigene:2578 semapv:UnspecifiedMatching OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:GAGE7 semapv:UnspecifiedMatching OMIM:300601 GAGE7 skos:exactMatch ncbigene:2579 semapv:UnspecifiedMatching -OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching OMIM:300603 POF1B skos:exactMatch hgnc.symbol:POF1B semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch ncbigene:117154 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:DACH2 semapv:UnspecifiedMatching OMIM:300608 DACH2 skos:exactMatch UMLS:C1424566 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:DACH2 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch ncbigene:117154 semapv:UnspecifiedMatching OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:MSL3 semapv:UnspecifiedMatching OMIM:300609 MSL3 skos:exactMatch ncbigene:10943 semapv:UnspecifiedMatching OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:HNRNPH2 semapv:UnspecifiedMatching @@ -8297,21 +8297,21 @@ OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:ASB11 semapv:UnspecifiedMatching OMIM:300626 ASB11 skos:exactMatch ncbigene:140456 semapv:UnspecifiedMatching OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:ZNF449 semapv:UnspecifiedMatching OMIM:300627 ZNF449 skos:exactMatch ncbigene:203523 semapv:UnspecifiedMatching -OMIM:300628 FRMD7 skos:exactMatch ncbigene:90167 semapv:UnspecifiedMatching OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:FRMD7 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch ncbigene:90167 semapv:UnspecifiedMatching OMIM:300629 AP1S2 skos:exactMatch ncbigene:8905 semapv:UnspecifiedMatching OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:AP1S2 semapv:UnspecifiedMatching OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:CLTRN semapv:UnspecifiedMatching OMIM:300631 CLTRN skos:exactMatch ncbigene:57393 semapv:UnspecifiedMatching OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:PDZD11 semapv:UnspecifiedMatching OMIM:300632 PDZD11 skos:exactMatch ncbigene:51248 semapv:UnspecifiedMatching -OMIM:300634 PDZD4 skos:exactMatch ncbigene:57595 semapv:UnspecifiedMatching OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:PDZD4 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch ncbigene:57595 semapv:UnspecifiedMatching OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching OMIM:300636 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching -OMIM:300637 GAGE12I skos:exactMatch ncbigene:26748 semapv:UnspecifiedMatching OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:GAGE12I semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch ncbigene:26748 semapv:UnspecifiedMatching OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:GAGE8 semapv:UnspecifiedMatching OMIM:300638 GAGE8 skos:exactMatch ncbigene:100101629 semapv:UnspecifiedMatching OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:SLC25A43 semapv:UnspecifiedMatching @@ -8322,92 +8322,92 @@ OMIM:300644 GLA skos:exactMatch hgnc.symbol:GLA semapv:UnspecifiedMatching OMIM:300644 GLA skos:exactMatch ncbigene:2717 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch ncbigene:51114 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:ZDHHC9 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C1425540 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:AMER1 semapv:UnspecifiedMatching OMIM:300647 AMER1 skos:exactMatch ncbigene:139285 semapv:UnspecifiedMatching OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:CT45A1 semapv:UnspecifiedMatching OMIM:300648 CT45A1 skos:exactMatch ncbigene:541466 semapv:UnspecifiedMatching OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:SLC38A5 semapv:UnspecifiedMatching OMIM:300649 SLC38A5 skos:exactMatch ncbigene:92745 semapv:UnspecifiedMatching -OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching -OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching OMIM:300651 PORCN skos:exactMatch hgnc.symbol:PORCN semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:FAAH2 semapv:UnspecifiedMatching OMIM:300654 FAAH2 skos:exactMatch ncbigene:158584 semapv:UnspecifiedMatching OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:KLHL13 semapv:UnspecifiedMatching OMIM:300655 KLHL13 skos:exactMatch ncbigene:90293 semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch UMLS:C1823601 semapv:UnspecifiedMatching OMIM:300656 UPRT skos:exactMatch hgnc.symbol:UPRT semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch UMLS:C1823601 semapv:UnspecifiedMatching OMIM:300656 UPRT skos:exactMatch ncbigene:139596 semapv:UnspecifiedMatching OMIM:300657 CTAG1A skos:exactMatch ncbigene:246100 semapv:UnspecifiedMatching OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:CTAG1A semapv:UnspecifiedMatching -OMIM:300658 NDP skos:exactMatch ncbigene:4693 semapv:UnspecifiedMatching OMIM:300658 NDP skos:exactMatch hgnc.symbol:NDP semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch ncbigene:4693 semapv:UnspecifiedMatching OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:SNORA11 semapv:UnspecifiedMatching OMIM:300662 SNORA11 skos:exactMatch ncbigene:677799 semapv:UnspecifiedMatching OMIM:300663 ATG4A skos:exactMatch UMLS:C1825494 semapv:UnspecifiedMatching OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:ATG4A semapv:UnspecifiedMatching OMIM:300663 ATG4A skos:exactMatch ncbigene:115201 semapv:UnspecifiedMatching -OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:SPANXN1 semapv:UnspecifiedMatching OMIM:300664 SPANXN1 skos:exactMatch ncbigene:494118 semapv:UnspecifiedMatching -OMIM:300665 SPANXN2 skos:exactMatch ncbigene:494119 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:SPANXN1 semapv:UnspecifiedMatching OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:SPANXN2 semapv:UnspecifiedMatching -OMIM:300666 SPANXN3 skos:exactMatch ncbigene:139067 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch ncbigene:494119 semapv:UnspecifiedMatching OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:SPANXN3 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch ncbigene:139067 semapv:UnspecifiedMatching OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:SPANXN4 semapv:UnspecifiedMatching OMIM:300667 SPANXN4 skos:exactMatch ncbigene:441525 semapv:UnspecifiedMatching OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:SPANXN5 semapv:UnspecifiedMatching OMIM:300668 SPANXN5 skos:exactMatch ncbigene:494197 semapv:UnspecifiedMatching OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:SPANXB1 semapv:UnspecifiedMatching OMIM:300669 SPANXB1 skos:exactMatch ncbigene:728695 semapv:UnspecifiedMatching -OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:SPANXD semapv:UnspecifiedMatching OMIM:300670 SPANXD skos:exactMatch ncbigene:64648 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:SPANXD semapv:UnspecifiedMatching OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:MOSPD1 semapv:UnspecifiedMatching OMIM:300674 MOSPD1 skos:exactMatch ncbigene:56180 semapv:UnspecifiedMatching -OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:PNMA3 semapv:UnspecifiedMatching OMIM:300675 PNMA3 skos:exactMatch ncbigene:29944 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:PNMA3 semapv:UnspecifiedMatching OMIM:300677 TXLNG skos:exactMatch UMLS:C1425616 semapv:UnspecifiedMatching OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:TXLNG semapv:UnspecifiedMatching OMIM:300677 TXLNG skos:exactMatch ncbigene:55787 semapv:UnspecifiedMatching -OMIM:300678 DUSP21 skos:exactMatch ncbigene:63904 semapv:UnspecifiedMatching OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:DUSP21 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch ncbigene:63904 semapv:UnspecifiedMatching OMIM:300680 PNCK skos:exactMatch hgnc.symbol:PNCK semapv:UnspecifiedMatching OMIM:300680 PNCK skos:exactMatch ncbigene:139728 semapv:UnspecifiedMatching -OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:DOCK11 semapv:UnspecifiedMatching OMIM:300681 DOCK11 skos:exactMatch ncbigene:139818 semapv:UnspecifiedMatching -OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:MIR424 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:DOCK11 semapv:UnspecifiedMatching OMIM:300682 MIR424 skos:exactMatch ncbigene:494336 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:MIR424 semapv:UnspecifiedMatching OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:SEPTIN6 semapv:UnspecifiedMatching OMIM:300683 SEPT6 skos:exactMatch ncbigene:23157 semapv:UnspecifiedMatching -OMIM:300684 XKRX skos:exactMatch ncbigene:402415 semapv:UnspecifiedMatching OMIM:300684 XKRX skos:exactMatch hgnc.symbol:XKRX semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch ncbigene:402415 semapv:UnspecifiedMatching OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:PRRG3 semapv:UnspecifiedMatching OMIM:300685 PRRG3 skos:exactMatch ncbigene:79057 semapv:UnspecifiedMatching OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:MIR448 semapv:UnspecifiedMatching OMIM:300686 MIR448 skos:exactMatch ncbigene:554212 semapv:UnspecifiedMatching -OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:ERCC6L semapv:UnspecifiedMatching OMIM:300687 ERCC6L skos:exactMatch ncbigene:54821 semapv:UnspecifiedMatching -OMIM:300688 BCORL1 skos:exactMatch ncbigene:63035 semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:ERCC6L semapv:UnspecifiedMatching OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:BCORL1 semapv:UnspecifiedMatching -OMIM:300689 STARD8 skos:exactMatch ncbigene:9754 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch ncbigene:63035 semapv:UnspecifiedMatching OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:STARD8 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch ncbigene:9754 semapv:UnspecifiedMatching OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:BEX1 semapv:UnspecifiedMatching OMIM:300690 BEX1 skos:exactMatch ncbigene:55859 semapv:UnspecifiedMatching OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:BEX2 semapv:UnspecifiedMatching OMIM:300691 BEX2 skos:exactMatch ncbigene:84707 semapv:UnspecifiedMatching -OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:BEX4 semapv:UnspecifiedMatching OMIM:300692 BEX4 skos:exactMatch ncbigene:56271 semapv:UnspecifiedMatching -OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:BEX5 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:BEX4 semapv:UnspecifiedMatching OMIM:300693 BEX5 skos:exactMatch ncbigene:340542 semapv:UnspecifiedMatching -OMIM:300694 MIR223 skos:exactMatch ncbigene:407008 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:BEX5 semapv:UnspecifiedMatching OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:MIR223 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch ncbigene:407008 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch UMLS:C1537395 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:HUWE1 semapv:UnspecifiedMatching @@ -8436,30 +8436,30 @@ OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:MIRLET7F2 semapv:UnspecifiedMa OMIM:300721 MIRLET7F2 skos:exactMatch ncbigene:406889 semapv:UnspecifiedMatching OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:MIR19B2 semapv:UnspecifiedMatching OMIM:300722 MIR19B2 skos:exactMatch ncbigene:406981 semapv:UnspecifiedMatching -OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:SYTL4 semapv:UnspecifiedMatching OMIM:300723 SYTL4 skos:exactMatch ncbigene:94121 semapv:UnspecifiedMatching -OMIM:300724 CNKSR2 skos:exactMatch ncbigene:22866 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:SYTL4 semapv:UnspecifiedMatching OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:CNKSR2 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch ncbigene:22866 semapv:UnspecifiedMatching OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:RRAGB semapv:UnspecifiedMatching OMIM:300725 RRAGB skos:exactMatch ncbigene:10325 semapv:UnspecifiedMatching OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:GAGE2B semapv:UnspecifiedMatching OMIM:300726 GAGE2B skos:exactMatch ncbigene:645037 semapv:UnspecifiedMatching -OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:GAGE12C semapv:UnspecifiedMatching OMIM:300727 GAGE12C skos:exactMatch ncbigene:729422 semapv:UnspecifiedMatching -OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:GAGE12D semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:GAGE12C semapv:UnspecifiedMatching OMIM:300728 GAGE12D skos:exactMatch ncbigene:100132399 semapv:UnspecifiedMatching -OMIM:300729 GAGE12E skos:exactMatch ncbigene:729431 semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:GAGE12D semapv:UnspecifiedMatching OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:GAGE12E semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch ncbigene:729431 semapv:UnspecifiedMatching OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:GAGE12F semapv:UnspecifiedMatching OMIM:300730 GAGE12F skos:exactMatch ncbigene:100008586 semapv:UnspecifiedMatching OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:GAGE12G semapv:UnspecifiedMatching OMIM:300731 GAGE12G skos:exactMatch ncbigene:645073 semapv:UnspecifiedMatching OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:GAGE12H semapv:UnspecifiedMatching OMIM:300732 GAGE12H skos:exactMatch ncbigene:729442 semapv:UnspecifiedMatching -OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:GAGE12J semapv:UnspecifiedMatching OMIM:300733 GAGE12J skos:exactMatch ncbigene:729396 semapv:UnspecifiedMatching -OMIM:300734 GAGE13 skos:exactMatch ncbigene:645051 semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:GAGE12J semapv:UnspecifiedMatching OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:GAGE13 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch ncbigene:645051 semapv:UnspecifiedMatching OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:GAGE2D semapv:UnspecifiedMatching OMIM:300735 GAGE2D skos:exactMatch ncbigene:729408 semapv:UnspecifiedMatching OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:GAGE2E semapv:UnspecifiedMatching @@ -8474,84 +8474,84 @@ OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:XAGE3 semapv:UnspecifiedMatching OMIM:300740 XAGE3 skos:exactMatch ncbigene:170626 semapv:UnspecifiedMatching OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:FAM120C semapv:UnspecifiedMatching OMIM:300741 FAM120C skos:exactMatch ncbigene:54954 semapv:UnspecifiedMatching -OMIM:300742 XAGE1A skos:exactMatch ncbigene:653220 semapv:UnspecifiedMatching OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:XAGE1A semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch ncbigene:653220 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch hgnc.symbol:F9 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C4016497 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch ncbigene:2158 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch hgnc.symbol:F9 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C4016496 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch ncbigene:2158 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C3275410 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C1366464 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C4016495 semapv:UnspecifiedMatching -OMIM:300747 STS skos:exactMatch hgnc.symbol:STS semapv:UnspecifiedMatching OMIM:300747 STS skos:exactMatch ncbigene:412 semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch hgnc.symbol:STS semapv:UnspecifiedMatching OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:GPR82 semapv:UnspecifiedMatching OMIM:300748 GPR82 skos:exactMatch ncbigene:27197 semapv:UnspecifiedMatching -OMIM:300753 APOO skos:exactMatch ncbigene:79135 semapv:UnspecifiedMatching OMIM:300753 APOO skos:exactMatch hgnc.symbol:APOO semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch ncbigene:79135 semapv:UnspecifiedMatching OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:TAF9B semapv:UnspecifiedMatching OMIM:300754 TAF9B skos:exactMatch ncbigene:51616 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch hgnc.symbol:RP2 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch ncbigene:6102 semapv:UnspecifiedMatching -OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:MAGEE1 semapv:UnspecifiedMatching OMIM:300759 MAGEE1 skos:exactMatch ncbigene:57692 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:MAGEE1 semapv:UnspecifiedMatching OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:MAGEE2 semapv:UnspecifiedMatching OMIM:300760 MAGEE2 skos:exactMatch ncbigene:139599 semapv:UnspecifiedMatching -OMIM:300761 MAGEB10 skos:exactMatch ncbigene:139422 semapv:UnspecifiedMatching OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:MAGEB10 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch ncbigene:139422 semapv:UnspecifiedMatching OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:MAGEB16 semapv:UnspecifiedMatching OMIM:300762 MAGEB16 skos:exactMatch ncbigene:139604 semapv:UnspecifiedMatching -OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:MAGEB17 semapv:UnspecifiedMatching OMIM:300763 MAGEB17 skos:exactMatch ncbigene:645864 semapv:UnspecifiedMatching -OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:MAGEA9B semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:MAGEB17 semapv:UnspecifiedMatching OMIM:300764 MAGEA9B skos:exactMatch ncbigene:728269 semapv:UnspecifiedMatching -OMIM:300765 MAGED4B skos:exactMatch ncbigene:81557 semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:MAGEA9B semapv:UnspecifiedMatching OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:MAGED4B semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch ncbigene:79576 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch hgnc.symbol:NKAP semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch ncbigene:81557 semapv:UnspecifiedMatching OMIM:300766 NKAP skos:exactMatch UMLS:C2239784 semapv:UnspecifiedMatching OMIM:300766 NKAP skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch hgnc.symbol:NKAP semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch ncbigene:79576 semapv:UnspecifiedMatching OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:RPA4 semapv:UnspecifiedMatching OMIM:300767 RPA4 skos:exactMatch ncbigene:29935 semapv:UnspecifiedMatching -OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:CYLC1 semapv:UnspecifiedMatching OMIM:300768 CYLC1 skos:exactMatch ncbigene:1538 semapv:UnspecifiedMatching -OMIM:300769 MIR224 skos:exactMatch ncbigene:407009 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:CYLC1 semapv:UnspecifiedMatching OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:MIR224 semapv:UnspecifiedMatching -OMIM:300771 TCEAL7 skos:exactMatch ncbigene:56849 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch ncbigene:407009 semapv:UnspecifiedMatching OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:TCEAL7 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch ncbigene:56849 semapv:UnspecifiedMatching OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:TFDP3 semapv:UnspecifiedMatching OMIM:300772 TFDP3 skos:exactMatch ncbigene:51270 semapv:UnspecifiedMatching OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:APEX2 semapv:UnspecifiedMatching OMIM:300773 APEX2 skos:exactMatch ncbigene:27301 semapv:UnspecifiedMatching -OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:RAB39B semapv:UnspecifiedMatching OMIM:300774 RAB39B skos:exactMatch ncbigene:116442 semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:RAB39B semapv:UnspecifiedMatching OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:ELF4 semapv:UnspecifiedMatching OMIM:300775 ELF4 skos:exactMatch ncbigene:2000 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch ncbigene:79868 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:ALG13 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C1823172 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching -OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:TMLHE semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:ALG13 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch ncbigene:79868 semapv:UnspecifiedMatching OMIM:300777 TMLHE skos:exactMatch ncbigene:55217 semapv:UnspecifiedMatching -OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:TMLHE semapv:UnspecifiedMatching OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching -OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching +OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:CT47A1 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:CT47A2 semapv:UnspecifiedMatching OMIM:300781 CT47A2 skos:exactMatch ncbigene:728090 semapv:UnspecifiedMatching OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:CT47A3 semapv:UnspecifiedMatching OMIM:300782 CT47A3 skos:exactMatch ncbigene:728082 semapv:UnspecifiedMatching -OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:CT47A4 semapv:UnspecifiedMatching OMIM:300783 CT47A4 skos:exactMatch ncbigene:728075 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:CT47A4 semapv:UnspecifiedMatching OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:CT47A5 semapv:UnspecifiedMatching OMIM:300784 CT47A5 skos:exactMatch ncbigene:728072 semapv:UnspecifiedMatching -OMIM:300785 CT47A6 skos:exactMatch ncbigene:728062 semapv:UnspecifiedMatching OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:CT47A6 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch ncbigene:728062 semapv:UnspecifiedMatching OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:CT47A7 semapv:UnspecifiedMatching OMIM:300786 CT47A7 skos:exactMatch ncbigene:653282 semapv:UnspecifiedMatching OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:CT47A8 semapv:UnspecifiedMatching @@ -8560,17 +8560,17 @@ OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:CT47A9 semapv:UnspecifiedMatching OMIM:300788 CT47A9 skos:exactMatch ncbigene:728042 semapv:UnspecifiedMatching OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:CT47A10 semapv:UnspecifiedMatching OMIM:300789 CT47A10 skos:exactMatch ncbigene:728036 semapv:UnspecifiedMatching -OMIM:300790 CT47B1 skos:exactMatch ncbigene:643311 semapv:UnspecifiedMatching OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:CT47B1 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch ncbigene:643311 semapv:UnspecifiedMatching OMIM:300791 NRK skos:exactMatch hgnc.symbol:NRK semapv:UnspecifiedMatching OMIM:300791 NRK skos:exactMatch ncbigene:203447 semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch UMLS:C1537763 semapv:UnspecifiedMatching OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:MIR106A semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch UMLS:C1537763 semapv:UnspecifiedMatching OMIM:300792 MIR106A skos:exactMatch ncbigene:406899 semapv:UnspecifiedMatching -OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:CT45A2 semapv:UnspecifiedMatching OMIM:300793 CT45A2 skos:exactMatch ncbigene:728911 semapv:UnspecifiedMatching -OMIM:300794 CT45A3 skos:exactMatch ncbigene:441519 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:CT45A2 semapv:UnspecifiedMatching OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:CT45A3 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch ncbigene:441519 semapv:UnspecifiedMatching OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:CT45A5 semapv:UnspecifiedMatching OMIM:300796 CT45A5 skos:exactMatch ncbigene:441521 semapv:UnspecifiedMatching OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:CT45A6 semapv:UnspecifiedMatching @@ -8580,17 +8580,17 @@ OMIM:300798 PHKA2 skos:exactMatch ncbigene:5256 semapv:UnspecifiedMatching OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:163953 semapv:UnspecifiedMatching -OMIM:300805 FMR1AS1 skos:exactMatch ncbigene:100126270 semapv:UnspecifiedMatching OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:FMR1-AS1 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch ncbigene:100126270 semapv:UnspecifiedMatching OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:AFF2 semapv:UnspecifiedMatching OMIM:300806 AFF2 skos:exactMatch ncbigene:2334 semapv:UnspecifiedMatching OMIM:300807 thrombophilia, x-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching -OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching OMIM:300808 GPR143 skos:exactMatch ncbigene:4935 semapv:UnspecifiedMatching -OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching OMIM:300810 MIR98 skos:exactMatch ncbigene:407054 semapv:UnspecifiedMatching -OMIM:300811 MIR105-1 skos:exactMatch ncbigene:406897 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:MIR105-1 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch ncbigene:406897 semapv:UnspecifiedMatching OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:MIR105-2 semapv:UnspecifiedMatching OMIM:300812 MIR105-2 skos:exactMatch ncbigene:406898 semapv:UnspecifiedMatching OMIM:300814 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching @@ -8598,10 +8598,10 @@ OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:EFHC2 semapv:UnspecifiedMatching OMIM:300817 EFHC2 skos:exactMatch ncbigene:80258 semapv:UnspecifiedMatching OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching -OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:ZNF630 semapv:UnspecifiedMatching OMIM:300819 ZNF630 skos:exactMatch ncbigene:57232 semapv:UnspecifiedMatching -OMIM:300820 MAP3K15 skos:exactMatch ncbigene:389840 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:ZNF630 semapv:UnspecifiedMatching OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:MAP3K15 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch ncbigene:389840 semapv:UnspecifiedMatching OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:OPN1MW semapv:UnspecifiedMatching OMIM:300821 OPN1MW skos:exactMatch ncbigene:2652 semapv:UnspecifiedMatching OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:OPN1LW semapv:UnspecifiedMatching @@ -8609,43 +8609,43 @@ OMIM:300822 OPN1LW skos:exactMatch ncbigene:5956 semapv:UnspecifiedMatching OMIM:300823 IDS skos:exactMatch hgnc.symbol:IDS semapv:UnspecifiedMatching OMIM:300823 IDS skos:exactMatch ncbigene:3423 semapv:UnspecifiedMatching OMIM:300824 opn1lw and opn1mw genes, controller of skos:exactMatch ncbigene:107604627 semapv:UnspecifiedMatching -OMIM:300825 RBBP7 skos:exactMatch ncbigene:5931 semapv:UnspecifiedMatching OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:RBBP7 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch ncbigene:5931 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C1420449 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:STAG2 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch ncbigene:10735 semapv:UnspecifiedMatching -OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:FGF16 semapv:UnspecifiedMatching OMIM:300827 FGF16 skos:exactMatch ncbigene:8823 semapv:UnspecifiedMatching -OMIM:300828 PTCHD1 skos:exactMatch ncbigene:139411 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:FGF16 semapv:UnspecifiedMatching OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:PTCHD1 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch ncbigene:139411 semapv:UnspecifiedMatching OMIM:300831 ck syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching OMIM:300831 ck syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching OMIM:300832 JPX skos:exactMatch hgnc.symbol:JPX semapv:UnspecifiedMatching OMIM:300832 JPX skos:exactMatch ncbigene:554203 semapv:UnspecifiedMatching OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch UMLS:C3550856 semapv:UnspecifiedMatching OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch ncbigene:3730 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:ANOS1 semapv:UnspecifiedMatching OMIM:300836 ANOS1 skos:exactMatch UMLS:C1416536 semapv:UnspecifiedMatching OMIM:300836 ANOS1 skos:exactMatch UMLS:C4016502 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:ANOS1 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch ncbigene:3730 semapv:UnspecifiedMatching OMIM:300837 DGKK skos:exactMatch hgnc.symbol:DGKK semapv:UnspecifiedMatching OMIM:300837 DGKK skos:exactMatch ncbigene:139189 semapv:UnspecifiedMatching OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:FRMPD4 semapv:UnspecifiedMatching OMIM:300838 FRMPD4 skos:exactMatch ncbigene:9758 semapv:UnspecifiedMatching OMIM:300839 RS1 skos:exactMatch hgnc.symbol:RS1 semapv:UnspecifiedMatching OMIM:300839 RS1 skos:exactMatch ncbigene:6247 semapv:UnspecifiedMatching -OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:PRAF2 semapv:UnspecifiedMatching OMIM:300840 PRAF2 skos:exactMatch ncbigene:11230 semapv:UnspecifiedMatching -OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:PRAF2 semapv:UnspecifiedMatching OMIM:300841 F8 skos:exactMatch hgnc.symbol:F8 semapv:UnspecifiedMatching -OMIM:300846 CD99L2 skos:exactMatch ncbigene:83692 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:CD99L2 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch ncbigene:83692 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:CCDC22 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch ncbigene:28952 semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:ACOT9 semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch ncbigene:23597 semapv:UnspecifiedMatching @@ -8669,8 +8669,8 @@ OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:MIR506 semapv:UnspecifiedMatching OMIM:300877 MIR506 skos:exactMatch ncbigene:574511 semapv:UnspecifiedMatching OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:DMRTC1 semapv:UnspecifiedMatching OMIM:300878 DMRTC1 skos:exactMatch ncbigene:63947 semapv:UnspecifiedMatching -OMIM:300879 XG skos:exactMatch ncbigene:7499 semapv:UnspecifiedMatching OMIM:300879 XG skos:exactMatch hgnc.symbol:XG semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch ncbigene:7499 semapv:UnspecifiedMatching OMIM:300880 PSMD10 skos:exactMatch ncbigene:5716 semapv:UnspecifiedMatching OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:PSMD10 semapv:UnspecifiedMatching OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching @@ -8698,21 +8698,21 @@ OMIM:300895 ohdo syndrome, X-linked skos:exactMatch UMLS:C3698541 semapv:Unspeci OMIM:300895 ohdo syndrome, X-linked skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C1537464 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:ZC4H2 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch ncbigene:55906 semapv:UnspecifiedMatching -OMIM:300898 CDR1AS skos:exactMatch ncbigene:103611090 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C1537464 semapv:UnspecifiedMatching OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:CDR1-AS semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch ncbigene:103611090 semapv:UnspecifiedMatching OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:RPL39 semapv:UnspecifiedMatching OMIM:300899 RPL39 skos:exactMatch ncbigene:6170 semapv:UnspecifiedMatching OMIM:300901 XACT skos:exactMatch hgnc.symbol:XACT semapv:UnspecifiedMatching OMIM:300901 XACT skos:exactMatch ncbigene:105463123 semapv:UnspecifiedMatching -OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:RPL36A semapv:UnspecifiedMatching OMIM:300902 RPL36A skos:exactMatch ncbigene:6173 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:GPR174 semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:RPL36A semapv:UnspecifiedMatching OMIM:300903 GPR174 skos:exactMatch ncbigene:84636 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:GPR174 semapv:UnspecifiedMatching OMIM:300903 GPR174 skos:exactMatch UMLS:C1539610 semapv:UnspecifiedMatching OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:IRS4 semapv:UnspecifiedMatching OMIM:300904 IRS4 skos:exactMatch ncbigene:8471 semapv:UnspecifiedMatching @@ -8722,18 +8722,18 @@ OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:CSTF2 semapv:UnspecifiedMatching OMIM:300907 CSTF2 skos:exactMatch ncbigene:1478 semapv:UnspecifiedMatching OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:VMA21 semapv:UnspecifiedMatching OMIM:300913 VMA21 skos:exactMatch ncbigene:203547 semapv:UnspecifiedMatching -OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:PNMA5 semapv:UnspecifiedMatching OMIM:300916 PNMA5 skos:exactMatch ncbigene:114824 semapv:UnspecifiedMatching -OMIM:300917 PNMA6A skos:exactMatch ncbigene:84968 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:PNMA5 semapv:UnspecifiedMatching OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:PNMA6A semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch ncbigene:84968 semapv:UnspecifiedMatching OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:ATXN3L semapv:UnspecifiedMatching OMIM:300920 ATXN3L skos:exactMatch ncbigene:92552 semapv:UnspecifiedMatching OMIM:300921 BHLHB9 skos:exactMatch hgnc.symbol:GPRASP3 semapv:UnspecifiedMatching OMIM:300921 BHLHB9 skos:exactMatch ncbigene:80823 semapv:UnspecifiedMatching OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:CHIC1 semapv:UnspecifiedMatching OMIM:300922 CHIC1 skos:exactMatch ncbigene:53344 semapv:UnspecifiedMatching -OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:AWAT1 semapv:UnspecifiedMatching OMIM:300924 AWAT1 skos:exactMatch ncbigene:158833 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:AWAT1 semapv:UnspecifiedMatching OMIM:300925 AWAT2 skos:exactMatch ncbigene:158835 semapv:UnspecifiedMatching OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:AWAT2 semapv:UnspecifiedMatching OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:DGAT2L6 semapv:UnspecifiedMatching @@ -8762,22 +8762,22 @@ OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:GDPD2 semapv:UnspecifiedMatching OMIM:300940 GDPD2 skos:exactMatch ncbigene:54857 semapv:UnspecifiedMatching OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:SLC25A53 semapv:UnspecifiedMatching OMIM:300941 SLC25A53 skos:exactMatch ncbigene:401612 semapv:UnspecifiedMatching -OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:CSAG1 semapv:UnspecifiedMatching OMIM:300944 CSAG1 skos:exactMatch ncbigene:158511 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:CSAG1 semapv:UnspecifiedMatching OMIM:300945 TSR2 skos:exactMatch ncbigene:90121 semapv:UnspecifiedMatching OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:TSR2 semapv:UnspecifiedMatching -OMIM:300947 CCDC120 skos:exactMatch ncbigene:90060 semapv:UnspecifiedMatching OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:CCDC120 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch ncbigene:90060 semapv:UnspecifiedMatching OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:PCYT1B semapv:UnspecifiedMatching OMIM:300948 PCYT1B skos:exactMatch ncbigene:9468 semapv:UnspecifiedMatching OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:FOXR2 semapv:UnspecifiedMatching OMIM:300949 FOXR2 skos:exactMatch ncbigene:139628 semapv:UnspecifiedMatching -OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:MIR20B semapv:UnspecifiedMatching OMIM:300950 MIR20B skos:exactMatch ncbigene:574032 semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:MIR20B semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch ncbigene:7737 semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:RNF113A semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch UMLS:C1538859 semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch UMLS:C1538859 semapv:UnspecifiedMatching OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:300954 EOLA1 skos:exactMatch UMLS:C1824828 semapv:UnspecifiedMatching @@ -8794,11 +8794,11 @@ OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders b OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:DIPK2B semapv:UnspecifiedMatching OMIM:300959 DIPK2B skos:exactMatch ncbigene:79742 semapv:UnspecifiedMatching -OMIM:300961 MID1IP1 skos:exactMatch ncbigene:58526 semapv:UnspecifiedMatching OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:MID1IP1 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch ncbigene:58526 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch ncbigene:54960 semapv:UnspecifiedMatching OMIM:300962 GEMIN8 skos:exactMatch UMLS:C1825340 semapv:UnspecifiedMatching OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:GEMIN8 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch ncbigene:54960 semapv:UnspecifiedMatching OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:LAS1L semapv:UnspecifiedMatching OMIM:300964 LAS1L skos:exactMatch ncbigene:81887 semapv:UnspecifiedMatching OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching @@ -8807,16 +8807,16 @@ OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:GPRASP2 semapv:UnspecifiedMatchi OMIM:300969 GPRASP2 skos:exactMatch ncbigene:114928 semapv:UnspecifiedMatching OMIM:300970 MORC4 skos:exactMatch ncbigene:79710 semapv:UnspecifiedMatching OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:MORC4 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:93604 semapv:UnspecifiedMatching OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:93604 semapv:UnspecifiedMatching OMIM:300972 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:RHOXF1P1 semapv:UnspecifiedMatching OMIM:300973 RHOXF1P1 skos:exactMatch ncbigene:101928941 semapv:UnspecifiedMatching OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:PLCXD1 semapv:UnspecifiedMatching OMIM:300974 PLCXD1 skos:exactMatch ncbigene:55344 semapv:UnspecifiedMatching -OMIM:300975 USP27X skos:exactMatch hgnc.symbol:USP27X semapv:UnspecifiedMatching OMIM:300975 USP27X skos:exactMatch ncbigene:389856 semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch hgnc.symbol:USP27X semapv:UnspecifiedMatching OMIM:300976 FAM46D skos:exactMatch ncbigene:169966 semapv:UnspecifiedMatching OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:TENT5D semapv:UnspecifiedMatching OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:KLHL15 semapv:UnspecifiedMatching @@ -8838,8 +8838,8 @@ OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:YIPF6 semapv:UnspecifiedMatching OMIM:300996 YIPF6 skos:exactMatch ncbigene:286451 semapv:UnspecifiedMatching OMIM:300999 FIRRE skos:exactMatch ncbigene:286467 semapv:UnspecifiedMatching OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:FIRRE semapv:UnspecifiedMatching -OMIM:301000 wiskott-aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching OMIM:301000 wiskott-aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching +OMIM:301000 wiskott-aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:DANT1 semapv:UnspecifiedMatching OMIM:301001 DANT1 skos:exactMatch ncbigene:106029310 semapv:UnspecifiedMatching OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:SRPK3 semapv:UnspecifiedMatching @@ -8856,11 +8856,11 @@ OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:PAGE5 semapv:UnspecifiedMatching OMIM:301009 PAGE5 skos:exactMatch ncbigene:90737 semapv:UnspecifiedMatching OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:TMSB15B semapv:UnspecifiedMatching OMIM:301011 TMSB15B skos:exactMatch ncbigene:286527 semapv:UnspecifiedMatching -OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:STEEP1 semapv:UnspecifiedMatching OMIM:301012 STEEP1 skos:exactMatch ncbigene:63932 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:STEEP1 semapv:UnspecifiedMatching OMIM:301016 RAP2C skos:exactMatch ncbigene:57826 semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:RAP2C semapv:UnspecifiedMatching OMIM:301016 RAP2C skos:exactMatch UMLS:C1427380 semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:RAP2C semapv:UnspecifiedMatching OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:PPP1R2C semapv:UnspecifiedMatching OMIM:301017 PPP1R2C skos:exactMatch ncbigene:80316 semapv:UnspecifiedMatching OMIM:301019 KANTR skos:exactMatch hgnc.symbol:KANTR semapv:UnspecifiedMatching @@ -8869,8 +8869,8 @@ OMIM:301022 mullegama-klein-martinez syndrome skos:exactMatch UMLS:C5193008 sema OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:MIR532 semapv:UnspecifiedMatching OMIM:301023 MIR532 skos:exactMatch ncbigene:693124 semapv:UnspecifiedMatching OMIM:301024 intellectual developmental disorder, X-linked 108 skos:exactMatch UMLS:C5193009 semapv:UnspecifiedMatching -OMIM:301026 keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching OMIM:301026 keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching +OMIM:301026 keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:TBC1D8B semapv:UnspecifiedMatching OMIM:301027 TBC1D8B skos:exactMatch ncbigene:54885 semapv:UnspecifiedMatching OMIM:301032 basilicata-akhtar syndrome skos:exactMatch UMLS:C5231394 semapv:UnspecifiedMatching @@ -8878,8 +8878,8 @@ OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:DHRSX semapv:UnspecifiedMatching OMIM:301034 DHRSX skos:exactMatch ncbigene:207063 semapv:UnspecifiedMatching OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:EZHIP semapv:UnspecifiedMatching OMIM:301036 EZHIP skos:exactMatch ncbigene:340602 semapv:UnspecifiedMatching -OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:H2AB1 semapv:UnspecifiedMatching OMIM:301037 H2AB1 skos:exactMatch ncbigene:474382 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:H2AB1 semapv:UnspecifiedMatching OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:H2AB2 semapv:UnspecifiedMatching OMIM:301038 H2AB2 skos:exactMatch ncbigene:474381 semapv:UnspecifiedMatching OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching @@ -8887,17 +8887,17 @@ OMIM:301041 wieacker-wolff syndrome, female-restricted skos:exactMatch UMLS:C539 OMIM:301042 FUNDC2 skos:exactMatch UMLS:C1539540 semapv:UnspecifiedMatching OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:FUNDC2 semapv:UnspecifiedMatching OMIM:301042 FUNDC2 skos:exactMatch ncbigene:65991 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching OMIM:301045 congenital disorder of glycosylation, iia iir skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch UMLS:C1538942 semapv:UnspecifiedMatching OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:ARMCX4 semapv:UnspecifiedMatching OMIM:301046 ARMCX4 skos:exactMatch ncbigene:100131755 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch UMLS:C1538943 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch UMLS:C1538942 semapv:UnspecifiedMatching OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:ARMCX5 semapv:UnspecifiedMatching OMIM:301047 ARMCX5 skos:exactMatch ncbigene:64860 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch UMLS:C1538943 semapv:UnspecifiedMatching OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:ARMCX6 semapv:UnspecifiedMatching OMIM:301048 ARMCX6 skos:exactMatch ncbigene:54470 semapv:UnspecifiedMatching OMIM:301048 ARMCX6 skos:exactMatch UMLS:C1538944 semapv:UnspecifiedMatching @@ -8906,22 +8906,22 @@ OMIM:301049 TASL skos:exactMatch hgnc.symbol:TASL semapv:UnspecifiedMatching OMIM:301049 TASL skos:exactMatch ncbigene:80231 semapv:UnspecifiedMatching OMIM:301051 immunodeficiency 74, covid19-related, X-linked skos:exactMatch UMLS:C5435745 semapv:UnspecifiedMatching OMIM:301052 warfarin sensitivity, X-linked skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch UMLS:C1826059 semapv:UnspecifiedMatching OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:MIR505 semapv:UnspecifiedMatching OMIM:301053 MIR505 skos:exactMatch ncbigene:574508 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch UMLS:C1826059 semapv:UnspecifiedMatching OMIM:301054 vexas syndrome skos:exactMatch UMLS:C5435753 semapv:UnspecifiedMatching -OMIM:301055 CPXCR1 skos:exactMatch ncbigene:53336 semapv:UnspecifiedMatching OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:CPXCR1 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch ncbigene:53336 semapv:UnspecifiedMatching OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:CFAP47 semapv:UnspecifiedMatching OMIM:301057 CFAP47 skos:exactMatch ncbigene:286464 semapv:UnspecifiedMatching OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:MTMR8 semapv:UnspecifiedMatching OMIM:301061 MTMR8 skos:exactMatch ncbigene:55613 semapv:UnspecifiedMatching OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:MIR766 semapv:UnspecifiedMatching OMIM:301062 MIR766 skos:exactMatch ncbigene:768218 semapv:UnspecifiedMatching -OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:XAGE5 semapv:UnspecifiedMatching OMIM:301063 XAGE5 skos:exactMatch ncbigene:170627 semapv:UnspecifiedMatching -OMIM:301064 MAGEB18 skos:exactMatch ncbigene:286514 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:XAGE5 semapv:UnspecifiedMatching OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:MAGEB18 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch ncbigene:286514 semapv:UnspecifiedMatching OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:RAB40A semapv:UnspecifiedMatching OMIM:301065 RAB40A skos:exactMatch ncbigene:142684 semapv:UnspecifiedMatching OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:FAM47C semapv:UnspecifiedMatching @@ -8930,8 +8930,8 @@ OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:WDR44 semapv:UnspecifiedMatching OMIM:301070 WDR44 skos:exactMatch ncbigene:54521 semapv:UnspecifiedMatching OMIM:301073 ATP1B4 skos:exactMatch ncbigene:23439 semapv:UnspecifiedMatching OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:ATP1B4 semapv:UnspecifiedMatching -OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:DDX53 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:TCEANC semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch ncbigene:170082 semapv:UnspecifiedMatching OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:ADGRG4 semapv:UnspecifiedMatching @@ -8948,20 +8948,24 @@ OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:MIR92A2 semapv:UnspecifiedMatchi OMIM:301092 MIR92A2 skos:exactMatch ncbigene:407049 semapv:UnspecifiedMatching OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:NHSL2 semapv:UnspecifiedMatching OMIM:301093 NHSL2 skos:exactMatch ncbigene:340527 semapv:UnspecifiedMatching -OMIM:301096 CSAG2 skos:exactMatch ncbigene:102723547 semapv:UnspecifiedMatching OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:CSAG2 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch ncbigene:102723547 semapv:UnspecifiedMatching OMIM:301097 CSAG3 skos:exactMatch ncbigene:389903 semapv:UnspecifiedMatching OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:CSAG3 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:MMGT1 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch ncbigene:93380 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:TMEM31 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch ncbigene:203562 semapv:UnspecifiedMatching OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:ALAS2 semapv:UnspecifiedMatching OMIM:301300 ALAS2 skos:exactMatch ncbigene:212 semapv:UnspecifiedMatching OMIM:301500 fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching OMIM:301500 fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching -OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:ARR3 semapv:UnspecifiedMatching OMIM:301770 ARR3 skos:exactMatch ncbigene:407 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:ARR3 semapv:UnspecifiedMatching OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:ARSC2 semapv:UnspecifiedMatching OMIM:301780 ARSC2 skos:exactMatch ncbigene:413 semapv:UnspecifiedMatching -OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching +OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching OMIM:301870 BGN skos:exactMatch hgnc.symbol:BGN semapv:UnspecifiedMatching OMIM:301870 BGN skos:exactMatch ncbigene:633 semapv:UnspecifiedMatching OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching @@ -8972,14 +8976,14 @@ OMIM:302350 nance-horan syndrome skos:exactMatch UMLS:C0796085 semapv:Unspecifie OMIM:302350 nance-horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:CDR1 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch ncbigene:1038 semapv:UnspecifiedMatching -OMIM:302910 CLCN4 skos:exactMatch ncbigene:1183 semapv:UnspecifiedMatching OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:CLCN4 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch ncbigene:1183 semapv:UnspecifiedMatching OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:COL4A5 semapv:UnspecifiedMatching OMIM:303630 COL4A5 skos:exactMatch ncbigene:1287 semapv:UnspecifiedMatching -OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:COL4A6 semapv:UnspecifiedMatching OMIM:303631 COL4A6 skos:exactMatch ncbigene:1288 semapv:UnspecifiedMatching -OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:COL4A6 semapv:UnspecifiedMatching OMIM:304040 GJB1 skos:exactMatch ncbigene:2705 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:MPP1 semapv:UnspecifiedMatching OMIM:305360 MPP1 skos:exactMatch ncbigene:4354 semapv:UnspecifiedMatching OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:TIMP1 semapv:UnspecifiedMatching @@ -8996,52 +9000,52 @@ OMIM:305670 GRPR skos:exactMatch hgnc.symbol:GRPR semapv:UnspecifiedMatching OMIM:305670 GRPR skos:exactMatch ncbigene:2925 semapv:UnspecifiedMatching OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch UMLS:C1384583 semapv:UnspecifiedMatching OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching -OMIM:305900 G6PD skos:exactMatch hgnc.symbol:G6PD semapv:UnspecifiedMatching OMIM:305900 G6PD skos:exactMatch ncbigene:2539 semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch hgnc.symbol:G6PD semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch ncbigene:2892 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:GRIA3 semapv:UnspecifiedMatching OMIM:305915 GRIA3 skos:exactMatch UMLS:C1333710 semapv:UnspecifiedMatching OMIM:305915 GRIA3 skos:exactMatch UMLS:C5436947 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:GRIA3 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch ncbigene:2892 semapv:UnspecifiedMatching OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:GLRA2 semapv:UnspecifiedMatching OMIM:305990 GLRA2 skos:exactMatch ncbigene:2742 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C1844412 semapv:UnspecifiedMatching OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C2748941 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:306250 CSF2RA skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:PUDP semapv:UnspecifiedMatching OMIM:306480 HDHD1A skos:exactMatch ncbigene:8226 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching OMIM:306700 hemophilia a skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching OMIM:306700 hemophilia a skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching OMIM:306700 hemophilia a skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching -OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310997 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017605 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017606 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017796 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310993 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310994 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310995 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310996 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310997 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310998 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017606 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311000 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311001 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311002 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311003 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311004 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311005 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:HPRT1 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch ncbigene:3251 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310999 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017605 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311004 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017603 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:HPRT1 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017604 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017602 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C1415701 semapv:UnspecifiedMatching @@ -9050,47 +9054,47 @@ OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017591 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017592 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017593 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017594 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017604 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017595 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017596 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017597 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017598 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017599 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017595 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017600 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017601 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017602 semapv:UnspecifiedMatching -OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017603 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch ncbigene:3251 semapv:UnspecifiedMatching OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching -OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching +OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch Orphanet:431 semapv:UnspecifiedMatching +OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C2930820 semapv:UnspecifiedMatching OMIM:308300 incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C4552072 semapv:UnspecifiedMatching OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:IL2RG semapv:UnspecifiedMatching OMIM:308380 IL2RG skos:exactMatch ncbigene:3561 semapv:UnspecifiedMatching -OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:L1CAM semapv:UnspecifiedMatching OMIM:308840 L1CAM skos:exactMatch ncbigene:3897 semapv:UnspecifiedMatching OMIM:308960 leukemia, acute, X-linked skos:exactMatch UMLS:C3501854 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C2713392 semapv:UnspecifiedMatching -OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:LAMP2 semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch ncbigene:3920 semapv:UnspecifiedMatching OMIM:309400 menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching OMIM:309400 menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching -OMIM:309510 partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching OMIM:309510 partington syndrome skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching +OMIM:309510 partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:FMR1 semapv:UnspecifiedMatching @@ -9102,8 +9106,8 @@ OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner ii OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:85328 semapv:UnspecifiedMatching OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching -OMIM:309845 MSN skos:exactMatch hgnc.symbol:MSN semapv:UnspecifiedMatching OMIM:309845 MSN skos:exactMatch ncbigene:4478 semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch hgnc.symbol:MSN semapv:UnspecifiedMatching OMIM:309850 MAOA skos:exactMatch hgnc.symbol:MAOA semapv:UnspecifiedMatching OMIM:309850 MAOA skos:exactMatch ncbigene:4128 semapv:UnspecifiedMatching OMIM:309860 MAOB skos:exactMatch hgnc.symbol:MAOB semapv:UnspecifiedMatching @@ -9115,159 +9119,159 @@ OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch UMLS:C1 OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching -OMIM:311010 ARAF1 skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching -OMIM:311010 ARAF1 skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:MCF2 semapv:UnspecifiedMatching OMIM:311030 MCF2 skos:exactMatch ncbigene:4168 semapv:UnspecifiedMatching OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:ELK1 semapv:UnspecifiedMatching OMIM:311040 ELK1 skos:exactMatch ncbigene:2002 semapv:UnspecifiedMatching OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:TBC1D25 semapv:UnspecifiedMatching OMIM:311240 TBC1D25 skos:exactMatch ncbigene:4943 semapv:UnspecifiedMatching -OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching +OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C3494522 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:CDK16 semapv:UnspecifiedMatching OMIM:311550 CDK16 skos:exactMatch ncbigene:5127 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch ncbigene:5277 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch hgnc.symbol:PIGA semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch ncbigene:5277 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch UMLS:C1418559 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C1418558 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C0024790 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch UMLS:C1418559 semapv:UnspecifiedMatching -OMIM:311790 PFKFB1 skos:exactMatch ncbigene:5207 semapv:UnspecifiedMatching OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:PFKFB1 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch ncbigene:5207 semapv:UnspecifiedMatching OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:PGK1 semapv:UnspecifiedMatching OMIM:311800 PGK1 skos:exactMatch ncbigene:5230 semapv:UnspecifiedMatching OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:PRPS1 semapv:UnspecifiedMatching OMIM:311850 PRPS1 skos:exactMatch ncbigene:5631 semapv:UnspecifiedMatching -OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:PRPS2 semapv:UnspecifiedMatching OMIM:311860 PRPS2 skos:exactMatch ncbigene:5634 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:PRPS2 semapv:UnspecifiedMatching OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:PHKA1 semapv:UnspecifiedMatching OMIM:311870 PHKA1 skos:exactMatch ncbigene:5255 semapv:UnspecifiedMatching -OMIM:311900 tarp syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching OMIM:311900 tarp syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching +OMIM:311900 tarp syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:POLA1 semapv:UnspecifiedMatching OMIM:312040 POLA1 skos:exactMatch ncbigene:5422 semapv:UnspecifiedMatching OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:UBL4A semapv:UnspecifiedMatching OMIM:312070 UBL4A skos:exactMatch ncbigene:8266 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching -OMIM:312090 SLC10A3 skos:exactMatch ncbigene:8273 semapv:UnspecifiedMatching OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:SLC10A3 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch ncbigene:8273 semapv:UnspecifiedMatching OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching OMIM:312095 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0751597 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching -OMIM:312173 RPL10 skos:exactMatch ncbigene:6134 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0751597 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:RPL10 semapv:UnspecifiedMatching -OMIM:312180 UBE2A skos:exactMatch ncbigene:7319 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch ncbigene:6134 semapv:UnspecifiedMatching OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:UBE2A semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch ncbigene:7319 semapv:UnspecifiedMatching OMIM:312420 RENBP skos:exactMatch hgnc.symbol:RENBP semapv:UnspecifiedMatching OMIM:312420 RENBP skos:exactMatch ncbigene:5973 semapv:UnspecifiedMatching -OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching OMIM:312610 RPGR skos:exactMatch ncbigene:6103 semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:RPS4X semapv:UnspecifiedMatching OMIM:312760 RPS4X skos:exactMatch ncbigene:6191 semapv:UnspecifiedMatching -OMIM:312820 SSX1 skos:exactMatch ncbigene:6756 semapv:UnspecifiedMatching OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:SSX1 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch ncbigene:6756 semapv:UnspecifiedMatching OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:HTR2C semapv:UnspecifiedMatching OMIM:312861 HTR2C skos:exactMatch ncbigene:3358 semapv:UnspecifiedMatching -OMIM:312865 SHOX skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching OMIM:312865 SHOX skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:SAT1 semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch ncbigene:6303 semapv:UnspecifiedMatching -OMIM:313430 SOX3 skos:exactMatch ncbigene:6658 semapv:UnspecifiedMatching OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:SOX3 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch ncbigene:6658 semapv:UnspecifiedMatching OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:SYN1 semapv:UnspecifiedMatching OMIM:313440 SYN1 skos:exactMatch ncbigene:6853 semapv:UnspecifiedMatching -OMIM:313470 CD99 skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching OMIM:313470 CD99 skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching OMIM:313475 SYP skos:exactMatch hgnc.symbol:SYP semapv:UnspecifiedMatching OMIM:313475 SYP skos:exactMatch ncbigene:6855 semapv:UnspecifiedMatching OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:TAF1 semapv:UnspecifiedMatching OMIM:313650 TAF1 skos:exactMatch ncbigene:6872 semapv:UnspecifiedMatching -OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching OMIM:313700 AR skos:exactMatch hgnc.symbol:AR semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching -OMIM:314200 TBG skos:exactMatch hgnc.symbol:SERPINA7 semapv:UnspecifiedMatching OMIM:314200 TBG skos:exactMatch ncbigene:6906 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch hgnc.symbol:SERPINA7 semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:TFE3 semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch ncbigene:7030 semapv:UnspecifiedMatching OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch UMLS:C1839125 semapv:UnspecifiedMatching OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch ncbigene:7317 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:UBA1 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch UMLS:C5436948 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch ncbigene:7317 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch UMLS:C1421268 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch UMLS:C5436948 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:SLC35A2 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C1420188 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C4016594 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:SLC35A2 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch ncbigene:7355 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C1839735 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch UMLS:C1421536 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch hgnc.symbol:XIST semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching OMIM:314670 XIST skos:exactMatch ncbigene:7503 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch hgnc.symbol:XIST semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch UMLS:C1421536 semapv:UnspecifiedMatching OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:KDM5C semapv:UnspecifiedMatching OMIM:314690 KDM5C skos:exactMatch ncbigene:8242 semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch hgnc.symbol:XK semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch ncbigene:7504 semapv:UnspecifiedMatching -OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching OMIM:314980 ZFX skos:exactMatch hgnc.symbol:ZFX semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:ZNF711 semapv:UnspecifiedMatching OMIM:314990 ZNF711 skos:exactMatch ncbigene:7552 semapv:UnspecifiedMatching -OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:ZNF182 semapv:UnspecifiedMatching OMIM:314993 ZNF182 skos:exactMatch ncbigene:7569 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:ZNF182 semapv:UnspecifiedMatching OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:ZNF41 semapv:UnspecifiedMatching OMIM:314995 ZNF41 skos:exactMatch ncbigene:7592 semapv:UnspecifiedMatching OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:ZNF75D semapv:UnspecifiedMatching OMIM:314997 ZNF75D skos:exactMatch ncbigene:7626 semapv:UnspecifiedMatching -OMIM:314998 ZNF81 skos:exactMatch ncbigene:347344 semapv:UnspecifiedMatching OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:ZNF81 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch ncbigene:347344 semapv:UnspecifiedMatching OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:DAZ1 semapv:UnspecifiedMatching OMIM:400003 DAZ1 skos:exactMatch ncbigene:1617 semapv:UnspecifiedMatching -OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching OMIM:400005 USP9Y skos:exactMatch ncbigene:8287 semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching OMIM:400006 RBMY1A1 skos:exactMatch UMLS:C1419310 semapv:UnspecifiedMatching OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:RBMY1A1 semapv:UnspecifiedMatching OMIM:400006 RBMY1A1 skos:exactMatch ncbigene:5940 semapv:UnspecifiedMatching OMIM:400008 PRKY skos:exactMatch hgnc.symbol:PRKY semapv:UnspecifiedMatching OMIM:400008 PRKY skos:exactMatch ncbigene:5616 semapv:UnspecifiedMatching -OMIM:400009 UTY skos:exactMatch ncbigene:7404 semapv:UnspecifiedMatching OMIM:400009 UTY skos:exactMatch hgnc.symbol:UTY semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch UMLS:C1413926 semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:DDX3Y semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch ncbigene:7404 semapv:UnspecifiedMatching OMIM:400010 DDX3Y skos:exactMatch ncbigene:8653 semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:DDX3Y semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch UMLS:C1413926 semapv:UnspecifiedMatching OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching OMIM:400012 VCY skos:exactMatch hgnc.symbol:VCY semapv:UnspecifiedMatching OMIM:400012 VCY skos:exactMatch ncbigene:9084 semapv:UnspecifiedMatching -OMIM:400013 BPY2 skos:exactMatch ncbigene:9083 semapv:UnspecifiedMatching OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:BPY2 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch ncbigene:9083 semapv:UnspecifiedMatching OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:EIF1AY semapv:UnspecifiedMatching OMIM:400014 EIF1AY skos:exactMatch ncbigene:9086 semapv:UnspecifiedMatching -OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:XKRY semapv:UnspecifiedMatching OMIM:400015 xk-related protein on y chromosome skos:exactMatch ncbigene:9082 semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:XKRY semapv:UnspecifiedMatching OMIM:400016 CDY1 skos:exactMatch UMLS:C1413303 semapv:UnspecifiedMatching OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:CDY1 semapv:UnspecifiedMatching OMIM:400016 CDY1 skos:exactMatch ncbigene:9085 semapv:UnspecifiedMatching @@ -9276,46 +9280,46 @@ OMIM:400017 TMSB4Y skos:exactMatch ncbigene:9087 semapv:UnspecifiedMatching OMIM:400018 CDY2A skos:exactMatch UMLS:C1824691 semapv:UnspecifiedMatching OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:CDY2A semapv:UnspecifiedMatching OMIM:400018 CDY2A skos:exactMatch ncbigene:9426 semapv:UnspecifiedMatching -OMIM:400019 PRY skos:exactMatch hgnc.symbol:PRY semapv:UnspecifiedMatching OMIM:400019 PRY skos:exactMatch ncbigene:9081 semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch hgnc.symbol:PRY semapv:UnspecifiedMatching OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching OMIM:400020 SHOXY skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching -OMIM:400022 PCDH11Y skos:exactMatch ncbigene:83259 semapv:UnspecifiedMatching OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:PCDH11Y semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch ncbigene:83259 semapv:UnspecifiedMatching OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching OMIM:400023 CRLF2Y skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:TGIF2LY semapv:UnspecifiedMatching OMIM:400025 TGIF2LY skos:exactMatch ncbigene:90655 semapv:UnspecifiedMatching -OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:DAZ2 semapv:UnspecifiedMatching OMIM:400026 DAZ2 skos:exactMatch ncbigene:57055 semapv:UnspecifiedMatching -OMIM:400027 DAZ3 skos:exactMatch ncbigene:57054 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:DAZ2 semapv:UnspecifiedMatching OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:DAZ3 semapv:UnspecifiedMatching -OMIM:400028 NLGN4Y skos:exactMatch ncbigene:22829 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch ncbigene:57054 semapv:UnspecifiedMatching OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:NLGN4Y semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch ncbigene:22829 semapv:UnspecifiedMatching OMIM:400029 HSFY skos:exactMatch hgnc.symbol:HSFY1 semapv:UnspecifiedMatching OMIM:400029 HSFY skos:exactMatch ncbigene:86614 semapv:UnspecifiedMatching OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:RPS4Y2 semapv:UnspecifiedMatching OMIM:400030 RPS4Y2 skos:exactMatch ncbigene:140032 semapv:UnspecifiedMatching -OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:TXLNGY semapv:UnspecifiedMatching OMIM:400031 TXLNGY skos:exactMatch ncbigene:246126 semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:TXLNGY semapv:UnspecifiedMatching OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:TBL1Y semapv:UnspecifiedMatching OMIM:400033 TBL1Y skos:exactMatch ncbigene:90665 semapv:UnspecifiedMatching OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:CSPG4P1Y semapv:UnspecifiedMatching OMIM:400034 CSPG4P1Y skos:exactMatch ncbigene:114758 semapv:UnspecifiedMatching -OMIM:400035 GOLGA2P2Y skos:exactMatch ncbigene:84559 semapv:UnspecifiedMatching OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:GOLGA2P2Y semapv:UnspecifiedMatching -OMIM:400036 TTTY3 skos:exactMatch ncbigene:114760 semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch ncbigene:84559 semapv:UnspecifiedMatching OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:TTTY3 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch ncbigene:114760 semapv:UnspecifiedMatching OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:TTTY4 semapv:UnspecifiedMatching OMIM:400037 TTTY4 skos:exactMatch ncbigene:114761 semapv:UnspecifiedMatching OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:TTTY5 semapv:UnspecifiedMatching OMIM:400038 TTTY5 skos:exactMatch ncbigene:83863 semapv:UnspecifiedMatching OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:TTTY6 semapv:UnspecifiedMatching OMIM:400039 TTTY6 skos:exactMatch ncbigene:84672 semapv:UnspecifiedMatching -OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:TTTY17A semapv:UnspecifiedMatching OMIM:400040 TTTY17 skos:exactMatch ncbigene:252949 semapv:UnspecifiedMatching -OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:TTTY17A semapv:UnspecifiedMatching OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:PRY2 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748898 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748899 semapv:UnspecifiedMatching @@ -9323,193 +9327,193 @@ OMIM:400044 46,xy sex reversal 1 skos:exactMatch Orphanet:242 semapv:Unspecified OMIM:400045 46,xx sex reversal 1 skos:exactMatch UMLS:C2748895 semapv:UnspecifiedMatching OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching -OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:DAZ4 semapv:UnspecifiedMatching OMIM:400048 DAZ4 skos:exactMatch ncbigene:57135 semapv:UnspecifiedMatching -OMIM:400050 VCY1B skos:exactMatch ncbigene:353513 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:DAZ4 semapv:UnspecifiedMatching OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:VCY1B semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch ncbigene:353513 semapv:UnspecifiedMatching OMIM:402500 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching OMIM:402500 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching OMIM:403000 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching OMIM:410000 AMELY skos:exactMatch hgnc.symbol:AMELY semapv:UnspecifiedMatching OMIM:410000 AMELY skos:exactMatch ncbigene:266 semapv:UnspecifiedMatching -OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:425000 CSF2RY skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching -OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:KDM5D semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching OMIM:430000 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching OMIM:450000 cd99 antigen, y chromosome skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching OMIM:465000 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching -OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching OMIM:470000 RPS4Y1 skos:exactMatch ncbigene:6192 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch ncbigene:6736 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch hgnc.symbol:SRY semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C1420418 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch hgnc.symbol:SRY semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch ncbigene:6736 semapv:UnspecifiedMatching OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:TSPY1 semapv:UnspecifiedMatching OMIM:480100 TSPY1 skos:exactMatch ncbigene:7258 semapv:UnspecifiedMatching -OMIM:490000 ZFY skos:exactMatch hgnc.symbol:ZFY semapv:UnspecifiedMatching OMIM:490000 ZFY skos:exactMatch ncbigene:7544 semapv:UnspecifiedMatching -OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch hgnc.symbol:ZFY semapv:UnspecifiedMatching OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching +OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:MT-ND1 semapv:UnspecifiedMatching OMIM:516000 MTND1 skos:exactMatch ncbigene:4535 semapv:UnspecifiedMatching -OMIM:516001 MTND2 skos:exactMatch ncbigene:4536 semapv:UnspecifiedMatching OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:MT-ND2 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch ncbigene:4536 semapv:UnspecifiedMatching OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:MT-ND3 semapv:UnspecifiedMatching OMIM:516002 MTND3 skos:exactMatch ncbigene:4537 semapv:UnspecifiedMatching OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:MT-ND4 semapv:UnspecifiedMatching OMIM:516003 MTND4 skos:exactMatch ncbigene:4538 semapv:UnspecifiedMatching -OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:MT-ND4L semapv:UnspecifiedMatching OMIM:516004 MTND4L skos:exactMatch ncbigene:4539 semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:MT-ND4L semapv:UnspecifiedMatching OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:MT-ND5 semapv:UnspecifiedMatching OMIM:516005 MTND5 skos:exactMatch ncbigene:4540 semapv:UnspecifiedMatching -OMIM:516006 MTND6 skos:exactMatch ncbigene:4541 semapv:UnspecifiedMatching OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:MT-ND6 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch ncbigene:4541 semapv:UnspecifiedMatching OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:MT-CYB semapv:UnspecifiedMatching OMIM:516020 MTCYB skos:exactMatch ncbigene:4519 semapv:UnspecifiedMatching OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:MT-CO1 semapv:UnspecifiedMatching OMIM:516030 MTCO1 skos:exactMatch ncbigene:4512 semapv:UnspecifiedMatching -OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:MT-CO2 semapv:UnspecifiedMatching OMIM:516040 MTCO2 skos:exactMatch ncbigene:4513 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:MT-CO2 semapv:UnspecifiedMatching OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:MT-CO3 semapv:UnspecifiedMatching OMIM:516050 MTCO3 skos:exactMatch ncbigene:4514 semapv:UnspecifiedMatching -OMIM:516060 MTATP6 skos:exactMatch ncbigene:4508 semapv:UnspecifiedMatching OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:MT-ATP6 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch ncbigene:4508 semapv:UnspecifiedMatching OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:MT-ATP8 semapv:UnspecifiedMatching OMIM:516070 MTATP8 skos:exactMatch ncbigene:4509 semapv:UnspecifiedMatching OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:MT-RNR1 semapv:UnspecifiedMatching OMIM:561000 MTRNR1 skos:exactMatch ncbigene:4549 semapv:UnspecifiedMatching -OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:MT-RNR2 semapv:UnspecifiedMatching OMIM:561010 MTRNR2 skos:exactMatch ncbigene:4550 semapv:UnspecifiedMatching -OMIM:590000 MTTA skos:exactMatch ncbigene:4553 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:MT-RNR2 semapv:UnspecifiedMatching OMIM:590000 MTTA skos:exactMatch hgnc.symbol:MT-TA semapv:UnspecifiedMatching -OMIM:590005 MTTR skos:exactMatch ncbigene:4573 semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch ncbigene:4553 semapv:UnspecifiedMatching OMIM:590005 MTTR skos:exactMatch hgnc.symbol:MT-TR semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch ncbigene:4573 semapv:UnspecifiedMatching OMIM:590010 MTTN skos:exactMatch hgnc.symbol:MT-TN semapv:UnspecifiedMatching OMIM:590010 MTTN skos:exactMatch ncbigene:4570 semapv:UnspecifiedMatching OMIM:590015 MTTD skos:exactMatch hgnc.symbol:MT-TD semapv:UnspecifiedMatching OMIM:590015 MTTD skos:exactMatch ncbigene:4555 semapv:UnspecifiedMatching OMIM:590020 MTTC skos:exactMatch hgnc.symbol:MT-TC semapv:UnspecifiedMatching OMIM:590020 MTTC skos:exactMatch ncbigene:4511 semapv:UnspecifiedMatching -OMIM:590025 MTTE skos:exactMatch hgnc.symbol:MT-TE semapv:UnspecifiedMatching OMIM:590025 MTTE skos:exactMatch ncbigene:4556 semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch hgnc.symbol:MT-TE semapv:UnspecifiedMatching OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:MT-TQ semapv:UnspecifiedMatching OMIM:590030 MTTQ skos:exactMatch ncbigene:4572 semapv:UnspecifiedMatching -OMIM:590035 MTTG skos:exactMatch ncbigene:4563 semapv:UnspecifiedMatching OMIM:590035 MTTG skos:exactMatch hgnc.symbol:MT-TG semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch ncbigene:4563 semapv:UnspecifiedMatching OMIM:590040 MTTH skos:exactMatch hgnc.symbol:MT-TH semapv:UnspecifiedMatching OMIM:590040 MTTH skos:exactMatch ncbigene:4564 semapv:UnspecifiedMatching OMIM:590045 MTTI skos:exactMatch hgnc.symbol:MT-TI semapv:UnspecifiedMatching OMIM:590045 MTTI skos:exactMatch ncbigene:4565 semapv:UnspecifiedMatching -OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:MT-TL1 semapv:UnspecifiedMatching OMIM:590050 MTTL1 skos:exactMatch ncbigene:4567 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:MT-TL1 semapv:UnspecifiedMatching OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:MT-TL2 semapv:UnspecifiedMatching OMIM:590055 MTTL2 skos:exactMatch ncbigene:4568 semapv:UnspecifiedMatching -OMIM:590060 MTTK skos:exactMatch ncbigene:4566 semapv:UnspecifiedMatching OMIM:590060 MTTK skos:exactMatch hgnc.symbol:MT-TK semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch ncbigene:4566 semapv:UnspecifiedMatching OMIM:590065 MTTM skos:exactMatch hgnc.symbol:MT-TM semapv:UnspecifiedMatching OMIM:590065 MTTM skos:exactMatch ncbigene:4569 semapv:UnspecifiedMatching OMIM:590070 MTTF skos:exactMatch hgnc.symbol:MT-TF semapv:UnspecifiedMatching OMIM:590070 MTTF skos:exactMatch ncbigene:4558 semapv:UnspecifiedMatching -OMIM:590075 MTTP skos:exactMatch hgnc.symbol:MT-TP semapv:UnspecifiedMatching OMIM:590075 MTTP skos:exactMatch ncbigene:4571 semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch hgnc.symbol:MT-TP semapv:UnspecifiedMatching OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:MT-TS1 semapv:UnspecifiedMatching OMIM:590080 MTTS1 skos:exactMatch ncbigene:4574 semapv:UnspecifiedMatching -OMIM:590085 MTTS2 skos:exactMatch ncbigene:4575 semapv:UnspecifiedMatching OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:MT-TS2 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch ncbigene:4575 semapv:UnspecifiedMatching OMIM:590090 MTTT skos:exactMatch hgnc.symbol:MT-TT semapv:UnspecifiedMatching OMIM:590090 MTTT skos:exactMatch ncbigene:4576 semapv:UnspecifiedMatching OMIM:590095 MTTW skos:exactMatch hgnc.symbol:MT-TW semapv:UnspecifiedMatching OMIM:590095 MTTW skos:exactMatch ncbigene:4578 semapv:UnspecifiedMatching -OMIM:590100 MTTY skos:exactMatch hgnc.symbol:MT-TY semapv:UnspecifiedMatching OMIM:590100 MTTY skos:exactMatch ncbigene:4579 semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch hgnc.symbol:MT-TY semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C1538016 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C4016634 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch hgnc.symbol:MT-TV semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch ncbigene:4577 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C4016634 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C1538016 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching OMIM:600002 eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching OMIM:600002 eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:CACNB2 semapv:UnspecifiedMatching OMIM:600003 CACNB2 skos:exactMatch ncbigene:783 semapv:UnspecifiedMatching -OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:EPHA5 semapv:UnspecifiedMatching OMIM:600004 EPHA5 skos:exactMatch ncbigene:2044 semapv:UnspecifiedMatching -OMIM:600005 CIITA skos:exactMatch ncbigene:4261 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:EPHA5 semapv:UnspecifiedMatching OMIM:600005 CIITA skos:exactMatch hgnc.symbol:CIITA semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch ncbigene:4261 semapv:UnspecifiedMatching OMIM:600006 RFX1 skos:exactMatch UMLS:C1419359 semapv:UnspecifiedMatching OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:RFX1 semapv:UnspecifiedMatching OMIM:600006 RFX1 skos:exactMatch ncbigene:5989 semapv:UnspecifiedMatching OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:FLT3LG semapv:UnspecifiedMatching OMIM:600007 FLT3LG skos:exactMatch ncbigene:2323 semapv:UnspecifiedMatching -OMIM:600008 NNMT skos:exactMatch hgnc.symbol:NNMT semapv:UnspecifiedMatching OMIM:600008 NNMT skos:exactMatch ncbigene:4837 semapv:UnspecifiedMatching -OMIM:600009 IFI27 skos:exactMatch ncbigene:3429 semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch hgnc.symbol:NNMT semapv:UnspecifiedMatching OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:IFI27 semapv:UnspecifiedMatching -OMIM:600010 INSM1 skos:exactMatch ncbigene:3642 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch ncbigene:3429 semapv:UnspecifiedMatching OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:INSM1 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch ncbigene:3642 semapv:UnspecifiedMatching OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:EPHB4 semapv:UnspecifiedMatching OMIM:600011 EPHB4 skos:exactMatch ncbigene:2050 semapv:UnspecifiedMatching -OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:UBE2L1 semapv:UnspecifiedMatching OMIM:600012 UBE2L1 skos:exactMatch ncbigene:283556 semapv:UnspecifiedMatching -OMIM:600013 YY1 skos:exactMatch hgnc.symbol:YY1 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:UBE2L1 semapv:UnspecifiedMatching OMIM:600013 YY1 skos:exactMatch ncbigene:7528 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch hgnc.symbol:YY1 semapv:UnspecifiedMatching OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:SMARCA2 semapv:UnspecifiedMatching OMIM:600014 SMARCA2 skos:exactMatch ncbigene:6595 semapv:UnspecifiedMatching -OMIM:600016 CNTN1 skos:exactMatch ncbigene:1272 semapv:UnspecifiedMatching OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:CNTN1 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch ncbigene:1272 semapv:UnspecifiedMatching OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:SDC4 semapv:UnspecifiedMatching OMIM:600017 SDC4 skos:exactMatch ncbigene:6385 semapv:UnspecifiedMatching OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:OPRM1 semapv:UnspecifiedMatching OMIM:600018 OPRM1 skos:exactMatch ncbigene:4988 semapv:UnspecifiedMatching -OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:CYB561 semapv:UnspecifiedMatching OMIM:600019 CYB561 skos:exactMatch ncbigene:1534 semapv:UnspecifiedMatching -OMIM:600020 MXI1 skos:exactMatch ncbigene:4601 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:CYB561 semapv:UnspecifiedMatching OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:MXI1 semapv:UnspecifiedMatching -OMIM:600021 MXD1 skos:exactMatch ncbigene:4084 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch ncbigene:4601 semapv:UnspecifiedMatching OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:MXD1 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch ncbigene:4084 semapv:UnspecifiedMatching OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:PTGIR semapv:UnspecifiedMatching OMIM:600022 PTGIR skos:exactMatch ncbigene:5739 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch UMLS:C1413269 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:CDH11 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch ncbigene:1009 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch ncbigene:3930 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch hgnc.symbol:LBR semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch ncbigene:3930 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C4747922 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C1416802 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:KLC1 semapv:UnspecifiedMatching OMIM:600025 KLC1 skos:exactMatch ncbigene:3831 semapv:UnspecifiedMatching OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:SNTB1 semapv:UnspecifiedMatching OMIM:600026 SNTB1 skos:exactMatch ncbigene:6641 semapv:UnspecifiedMatching -OMIM:600027 SNTB2 skos:exactMatch ncbigene:6645 semapv:UnspecifiedMatching OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:SNTB2 semapv:UnspecifiedMatching -OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:DLX5 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch ncbigene:6645 semapv:UnspecifiedMatching OMIM:600028 DLX5 skos:exactMatch ncbigene:1749 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:DLX5 semapv:UnspecifiedMatching OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:DLX1 semapv:UnspecifiedMatching OMIM:600029 DLX1 skos:exactMatch ncbigene:1745 semapv:UnspecifiedMatching OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:DLX6 semapv:UnspecifiedMatching OMIM:600030 DLX6 skos:exactMatch ncbigene:1750 semapv:UnspecifiedMatching -OMIM:600031 CHIT1 skos:exactMatch ncbigene:1118 semapv:UnspecifiedMatching OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:CHIT1 semapv:UnspecifiedMatching -OMIM:600033 TFPI2 skos:exactMatch ncbigene:7980 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch ncbigene:1118 semapv:UnspecifiedMatching OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:TFPI2 semapv:UnspecifiedMatching -OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:EMX1 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch ncbigene:7980 semapv:UnspecifiedMatching OMIM:600034 EMX1 skos:exactMatch ncbigene:2016 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:EMX1 semapv:UnspecifiedMatching OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:EMX2 semapv:UnspecifiedMatching OMIM:600035 EMX2 skos:exactMatch ncbigene:2018 semapv:UnspecifiedMatching OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:OTX1 semapv:UnspecifiedMatching OMIM:600036 OTX1 skos:exactMatch ncbigene:5013 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C4225589 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch ncbigene:5015 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C4225589 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C3151440 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:OTX2 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching @@ -9520,8 +9524,8 @@ OMIM:600038 MATK skos:exactMatch ncbigene:4145 semapv:UnspecifiedMatching OMIM:600039 BCL2L1 skos:exactMatch UMLS:C1332397 semapv:UnspecifiedMatching OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:BCL2L1 semapv:UnspecifiedMatching OMIM:600039 BCL2L1 skos:exactMatch ncbigene:598 semapv:UnspecifiedMatching -OMIM:600040 BAX skos:exactMatch hgnc.symbol:BAX semapv:UnspecifiedMatching OMIM:600040 BAX skos:exactMatch ncbigene:581 semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch hgnc.symbol:BAX semapv:UnspecifiedMatching OMIM:600041 P2RY2 skos:exactMatch ncbigene:5029 semapv:UnspecifiedMatching OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:P2RY2 semapv:UnspecifiedMatching OMIM:600042 MC5R skos:exactMatch hgnc.symbol:MC5R semapv:UnspecifiedMatching @@ -9540,8 +9544,8 @@ OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394564 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394565 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:ABCA2 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch ncbigene:20 semapv:UnspecifiedMatching -OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:MAP3K11 semapv:UnspecifiedMatching OMIM:600050 MAP3K11 skos:exactMatch ncbigene:4296 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:MAP3K11 semapv:UnspecifiedMatching OMIM:600051 EPS15 skos:exactMatch ncbigene:2060 semapv:UnspecifiedMatching OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:EPS15 semapv:UnspecifiedMatching OMIM:600051 EPS15 skos:exactMatch UMLS:C1333343 semapv:UnspecifiedMatching @@ -9552,10 +9556,10 @@ OMIM:600053 CNGA3 skos:exactMatch ncbigene:1261 semapv:UnspecifiedMatching OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch UMLS:C1838703 semapv:UnspecifiedMatching OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching -OMIM:600058 TXK skos:exactMatch hgnc.symbol:TXK semapv:UnspecifiedMatching OMIM:600058 TXK skos:exactMatch ncbigene:7294 semapv:UnspecifiedMatching -OMIM:600059 retinitis pigmentosa 13 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch hgnc.symbol:TXK semapv:UnspecifiedMatching OMIM:600059 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching +OMIM:600059 retinitis pigmentosa 13 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:RAD23A semapv:UnspecifiedMatching OMIM:600061 RAD23A skos:exactMatch ncbigene:5886 semapv:UnspecifiedMatching OMIM:600062 RAD23B skos:exactMatch UMLS:C1419237 semapv:UnspecifiedMatching @@ -9591,19 +9595,19 @@ OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch U OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching OMIM:600085 SYK skos:exactMatch hgnc.symbol:SYK semapv:UnspecifiedMatching OMIM:600085 SYK skos:exactMatch ncbigene:6850 semapv:UnspecifiedMatching -OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:ADH7 semapv:UnspecifiedMatching OMIM:600086 ADH7 skos:exactMatch ncbigene:131 semapv:UnspecifiedMatching -OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:ADH7 semapv:UnspecifiedMatching OMIM:600087 TUFT1 skos:exactMatch ncbigene:7286 semapv:UnspecifiedMatching -OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching +OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:RRAS2 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C1335647 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C5231432 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:RRAS2 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch ncbigene:22800 semapv:UnspecifiedMatching -OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:SYT4 semapv:UnspecifiedMatching OMIM:600103 SYT4 skos:exactMatch ncbigene:6860 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:SYT4 semapv:UnspecifiedMatching OMIM:600104 SYT2 skos:exactMatch ncbigene:127833 semapv:UnspecifiedMatching OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:SYT2 semapv:UnspecifiedMatching OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:INPP5A semapv:UnspecifiedMatching @@ -9624,129 +9628,129 @@ OMIM:600119 SGCA skos:exactMatch hgnc.symbol:SGCA semapv:UnspecifiedMatching OMIM:600119 SGCA skos:exactMatch ncbigene:6442 semapv:UnspecifiedMatching OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching -OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:HNRNPA2B1 semapv:UnspecifiedMatching OMIM:600124 HNRNPA2B1 skos:exactMatch ncbigene:3181 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:HNRNPA2B1 semapv:UnspecifiedMatching OMIM:600126 PDE4A skos:exactMatch UMLS:C1418420 semapv:UnspecifiedMatching OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:PDE4A semapv:UnspecifiedMatching OMIM:600126 PDE4A skos:exactMatch ncbigene:5141 semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:PDE4B semapv:UnspecifiedMatching OMIM:600127 PDE4B skos:exactMatch UMLS:C1418421 semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:PDE4B semapv:UnspecifiedMatching OMIM:600127 PDE4B skos:exactMatch ncbigene:5142 semapv:UnspecifiedMatching OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:PDE4C semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch UMLS:C1418422 semapv:UnspecifiedMatching OMIM:600128 PDE4C skos:exactMatch ncbigene:5143 semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch UMLS:C1418422 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C1418423 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016646 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016647 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016648 semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:PDE4D semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch ncbigene:5144 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016648 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016647 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016646 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C1418423 semapv:UnspecifiedMatching OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:APOBEC1 semapv:UnspecifiedMatching OMIM:600130 APOBEC1 skos:exactMatch ncbigene:339 semapv:UnspecifiedMatching -OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching OMIM:600133 LAMA4 skos:exactMatch ncbigene:3910 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch ncbigene:404217 semapv:UnspecifiedMatching OMIM:600135 CTXN1 skos:exactMatch UMLS:C1429080 semapv:UnspecifiedMatching OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:CTXN1 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch ncbigene:404217 semapv:UnspecifiedMatching -OMIM:600136 MAP3K9 skos:exactMatch ncbigene:4293 semapv:UnspecifiedMatching OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:MAP3K9 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch ncbigene:4293 semapv:UnspecifiedMatching OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:MAP3K10 semapv:UnspecifiedMatching OMIM:600137 MAP3K10 skos:exactMatch ncbigene:4294 semapv:UnspecifiedMatching OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:CREBBP semapv:UnspecifiedMatching OMIM:600140 CREBBP skos:exactMatch ncbigene:1387 semapv:UnspecifiedMatching OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:HSPE1 semapv:UnspecifiedMatching OMIM:600141 HSPE1 skos:exactMatch ncbigene:3336 semapv:UnspecifiedMatching -OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:ITPR2 semapv:UnspecifiedMatching OMIM:600144 ITPR2 skos:exactMatch ncbigene:3709 semapv:UnspecifiedMatching OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:MEOX1 semapv:UnspecifiedMatching OMIM:600147 MEOX1 skos:exactMatch ncbigene:4222 semapv:UnspecifiedMatching -OMIM:600148 GK2 skos:exactMatch hgnc.symbol:GK2 semapv:UnspecifiedMatching OMIM:600148 GK2 skos:exactMatch ncbigene:2712 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch hgnc.symbol:GK2 semapv:UnspecifiedMatching OMIM:600149 glycerol kinase 3 pseudogene skos:exactMatch hgnc.symbol:GK3 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch ncbigene:3778 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:KCNMA1 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1836173 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch ncbigene:3778 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4539985 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1836173 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1416602 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4540548 semapv:UnspecifiedMatching -OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching -OMIM:600152 SEC13 skos:exactMatch ncbigene:6396 semapv:UnspecifiedMatching +OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:SEC13 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch ncbigene:6396 semapv:UnspecifiedMatching OMIM:600153 PIGF skos:exactMatch hgnc.symbol:PIGF semapv:UnspecifiedMatching OMIM:600153 PIGF skos:exactMatch ncbigene:5281 semapv:UnspecifiedMatching -OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching OMIM:600154 PIGH skos:exactMatch ncbigene:5283 semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch ncbigene:162 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:AP1B1 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1412434 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:AP1B1 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch ncbigene:162 semapv:UnspecifiedMatching OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:CDKN2A semapv:UnspecifiedMatching OMIM:600160 CDKN2A skos:exactMatch ncbigene:1029 semapv:UnspecifiedMatching -OMIM:600161 PWAR1 skos:exactMatch ncbigene:145624 semapv:UnspecifiedMatching OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:PWAR1 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch ncbigene:145624 semapv:UnspecifiedMatching OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:PWAR5 semapv:UnspecifiedMatching OMIM:600162 PWAR5 skos:exactMatch ncbigene:8123 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3276240 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3276241 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch ncbigene:6331 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:SCN5A semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C4016652 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3276241 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3276240 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:SCN5A semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1838527 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1861984 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C4016652 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1879286 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C1861983 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1861984 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C1859062 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1838527 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C1837845 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C1832680 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C1419864 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C0428908 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C0038644 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1879286 semapv:UnspecifiedMatching -OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching OMIM:600164 GEM skos:exactMatch ncbigene:2669 semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:HRH1 semapv:UnspecifiedMatching OMIM:600167 HRH1 skos:exactMatch ncbigene:3269 semapv:UnspecifiedMatching OMIM:600168 MST1R skos:exactMatch hgnc.symbol:MST1R semapv:UnspecifiedMatching OMIM:600168 MST1R skos:exactMatch ncbigene:4486 semapv:UnspecifiedMatching -OMIM:600169 MICA skos:exactMatch ncbigene:100507436 semapv:UnspecifiedMatching OMIM:600169 MICA skos:exactMatch hgnc.symbol:MICA semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch ncbigene:100507436 semapv:UnspecifiedMatching OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:AQP3 semapv:UnspecifiedMatching OMIM:600170 AQP3 skos:exactMatch ncbigene:360 semapv:UnspecifiedMatching OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:MTF1 semapv:UnspecifiedMatching OMIM:600172 MTF1 skos:exactMatch ncbigene:4520 semapv:UnspecifiedMatching OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:JAK3 semapv:UnspecifiedMatching OMIM:600173 JAK3 skos:exactMatch ncbigene:3718 semapv:UnspecifiedMatching -OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:PITPNA semapv:UnspecifiedMatching OMIM:600174 PITPNA skos:exactMatch ncbigene:5306 semapv:UnspecifiedMatching -OMIM:600178 MAP1A skos:exactMatch ncbigene:4130 semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:PITPNA semapv:UnspecifiedMatching OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:MAP1A semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch ncbigene:4130 semapv:UnspecifiedMatching OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:GUCY2D semapv:UnspecifiedMatching OMIM:600179 GUCY2D skos:exactMatch ncbigene:3000 semapv:UnspecifiedMatching OMIM:600181 LCN2 skos:exactMatch UMLS:C1416806 semapv:UnspecifiedMatching OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:LCN2 semapv:UnspecifiedMatching OMIM:600181 LCN2 skos:exactMatch ncbigene:3934 semapv:UnspecifiedMatching -OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:SLC7A5 semapv:UnspecifiedMatching OMIM:600182 SLC7A5 skos:exactMatch ncbigene:8140 semapv:UnspecifiedMatching -OMIM:600183 DUSP3 skos:exactMatch ncbigene:1845 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:SLC7A5 semapv:UnspecifiedMatching OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:DUSP3 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch ncbigene:1845 semapv:UnspecifiedMatching OMIM:600184 CRAT skos:exactMatch hgnc.symbol:CRAT semapv:UnspecifiedMatching OMIM:600184 CRAT skos:exactMatch ncbigene:1384 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch ncbigene:675 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:BRCA2 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C2675520 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C2751641 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C0598034 semapv:UnspecifiedMatching @@ -9761,13 +9765,13 @@ OMIM:600188 TLE5 skos:exactMatch UMLS:C1412268 semapv:UnspecifiedMatching OMIM:600188 TLE5 skos:exactMatch ncbigene:166 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch ncbigene:7088 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:TLE1 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch UMLS:C1420752 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch UMLS:C1420754 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:TLE3 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch UMLS:C1420754 semapv:UnspecifiedMatching OMIM:600190 TLE3 skos:exactMatch ncbigene:7090 semapv:UnspecifiedMatching -OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching OMIM:600192 SS18 skos:exactMatch ncbigene:6760 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:KRT2 semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch ncbigene:3849 semapv:UnspecifiedMatching OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching @@ -9780,8 +9784,8 @@ OMIM:600201 ASIP skos:exactMatch ncbigene:434 semapv:UnspecifiedMatching OMIM:600202 dyslexia, susceptibility to, 2 skos:exactMatch UMLS:C1838436 semapv:UnspecifiedMatching OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:EPS8 semapv:UnspecifiedMatching OMIM:600206 EPS8 skos:exactMatch ncbigene:2059 semapv:UnspecifiedMatching -OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:HPCAL1 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:RUNX3 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch ncbigene:864 semapv:UnspecifiedMatching OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:RUNX2 semapv:UnspecifiedMatching @@ -9790,8 +9794,8 @@ OMIM:600212 FASN skos:exactMatch hgnc.symbol:FASN semapv:UnspecifiedMatching OMIM:600212 FASN skos:exactMatch ncbigene:2194 semapv:UnspecifiedMatching OMIM:600214 AGER skos:exactMatch ncbigene:177 semapv:UnspecifiedMatching OMIM:600214 AGER skos:exactMatch hgnc.symbol:AGER semapv:UnspecifiedMatching -OMIM:600215 MFAP1 skos:exactMatch ncbigene:4236 semapv:UnspecifiedMatching OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:MFAP1 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch ncbigene:4236 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C1335226 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C3280914 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching @@ -9801,20 +9805,20 @@ OMIM:600221 TEK skos:exactMatch hgnc.symbol:TEK semapv:UnspecifiedMatching OMIM:600221 TEK skos:exactMatch ncbigene:7010 semapv:UnspecifiedMatching OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:TIE1 semapv:UnspecifiedMatching OMIM:600222 TIE1 skos:exactMatch ncbigene:7075 semapv:UnspecifiedMatching -OMIM:600225 GCH1 skos:exactMatch ncbigene:2643 semapv:UnspecifiedMatching OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:GCH1 semapv:UnspecifiedMatching -OMIM:600227 CCNF skos:exactMatch ncbigene:899 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch ncbigene:2643 semapv:UnspecifiedMatching OMIM:600227 CCNF skos:exactMatch hgnc.symbol:CCNF semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C1419868 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch ncbigene:899 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:SCNN1A semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch ncbigene:6337 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C1419868 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch ncbigene:6509 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:SLC1A4 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch UMLS:C1420122 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch UMLS:C1420122 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch UMLS:C1335225 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:PLCB3 semapv:UnspecifiedMatching @@ -9825,7 +9829,6 @@ OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:GABRG3 semapv:UnspecifiedMatching OMIM:600233 GABRG3 skos:exactMatch ncbigene:2567 semapv:UnspecifiedMatching OMIM:600234 HMGCS2 skos:exactMatch ncbigene:3158 semapv:UnspecifiedMatching OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:HMGCS2 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch ncbigene:6324 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C1419857 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching @@ -9833,6 +9836,7 @@ OMIM:600235 SCN1B skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C3809311 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:SCN1B semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch ncbigene:6324 semapv:UnspecifiedMatching OMIM:600236 CENPF skos:exactMatch ncbigene:1063 semapv:UnspecifiedMatching OMIM:600236 CENPF skos:exactMatch hgnc.symbol:CENPF semapv:UnspecifiedMatching OMIM:600237 HIRA skos:exactMatch UMLS:C1415549 semapv:UnspecifiedMatching @@ -9842,26 +9846,26 @@ OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:TGM3 semapv:UnspecifiedMatching OMIM:600238 TGM3 skos:exactMatch ncbigene:7053 semapv:UnspecifiedMatching OMIM:600239 GPR1 skos:exactMatch hgnc.symbol:CMKLR2 semapv:UnspecifiedMatching OMIM:600239 GPR1 skos:exactMatch ncbigene:2825 semapv:UnspecifiedMatching -OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:CCR10 semapv:UnspecifiedMatching OMIM:600240 CCR10 skos:exactMatch ncbigene:2826 semapv:UnspecifiedMatching -OMIM:600241 GPR3 skos:exactMatch ncbigene:2827 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:CCR10 semapv:UnspecifiedMatching OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:GPR3 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch ncbigene:2827 semapv:UnspecifiedMatching OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:CCR7 semapv:UnspecifiedMatching OMIM:600242 CCR7 skos:exactMatch ncbigene:1236 semapv:UnspecifiedMatching OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:DAD1 semapv:UnspecifiedMatching OMIM:600243 DAD1 skos:exactMatch ncbigene:1603 semapv:UnspecifiedMatching OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:PDCD1 semapv:UnspecifiedMatching OMIM:600244 PDCD1 skos:exactMatch ncbigene:5133 semapv:UnspecifiedMatching -OMIM:600245 FMOD skos:exactMatch ncbigene:2331 semapv:UnspecifiedMatching OMIM:600245 FMOD skos:exactMatch hgnc.symbol:FMOD semapv:UnspecifiedMatching -OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:ELK4 semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch ncbigene:2331 semapv:UnspecifiedMatching OMIM:600246 ELK4 skos:exactMatch ncbigene:2005 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:ELK4 semapv:UnspecifiedMatching OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:ELK3 semapv:UnspecifiedMatching OMIM:600247 ELK3 skos:exactMatch ncbigene:2004 semapv:UnspecifiedMatching OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:ALDH1L1 semapv:UnspecifiedMatching OMIM:600249 ALDH1L1 skos:exactMatch ncbigene:10840 semapv:UnspecifiedMatching -OMIM:600250 XCL1 skos:exactMatch ncbigene:6375 semapv:UnspecifiedMatching OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:XCL1 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch ncbigene:6375 semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch ncbigene:196 semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch hgnc.symbol:AHR semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch UMLS:C0596123 semapv:UnspecifiedMatching @@ -9873,124 +9877,124 @@ OMIM:600259 PMS2 skos:exactMatch UMLS:C1838333 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:PMS2 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch ncbigene:5395 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch ncbigene:5743 semapv:UnspecifiedMatching OMIM:600262 PTGS2 skos:exactMatch UMLS:C1367485 semapv:UnspecifiedMatching OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:PTGS2 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch ncbigene:5743 semapv:UnspecifiedMatching OMIM:600263 helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:AVPR1B semapv:UnspecifiedMatching OMIM:600264 AVPR1B skos:exactMatch ncbigene:553 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch UMLS:C2936833 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:SLC11A1 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1420088 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1864868 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch UMLS:C2936833 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:SLC11A1 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch ncbigene:6556 semapv:UnspecifiedMatching -OMIM:600267 PTPN13 skos:exactMatch ncbigene:5783 semapv:UnspecifiedMatching OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:PTPN13 semapv:UnspecifiedMatching -OMIM:600268 oculoectodermal syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch ncbigene:5783 semapv:UnspecifiedMatching OMIM:600268 oculoectodermal syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching +OMIM:600268 oculoectodermal syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:PCOLCE semapv:UnspecifiedMatching OMIM:600270 PCOLCE skos:exactMatch ncbigene:5118 semapv:UnspecifiedMatching OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:DSC3 semapv:UnspecifiedMatching OMIM:600271 DSC3 skos:exactMatch ncbigene:1825 semapv:UnspecifiedMatching -OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch ncbigene:4854 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1417768 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C3809084 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:NOTCH3 semapv:UnspecifiedMatching -OMIM:600277 ID3 skos:exactMatch ncbigene:3399 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch ncbigene:4854 semapv:UnspecifiedMatching OMIM:600277 ID3 skos:exactMatch hgnc.symbol:ID3 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch ncbigene:3399 semapv:UnspecifiedMatching OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:RAP1GAP semapv:UnspecifiedMatching OMIM:600278 RAP1GAP skos:exactMatch ncbigene:5909 semapv:UnspecifiedMatching OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:PEX19 semapv:UnspecifiedMatching OMIM:600279 PEX19 skos:exactMatch ncbigene:5824 semapv:UnspecifiedMatching -OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:NUBP1 semapv:UnspecifiedMatching OMIM:600280 NUBP1 skos:exactMatch ncbigene:4682 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch ncbigene:3172 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:HNF4A semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C1415629 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:NUBP1 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C1415629 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:HNF4A semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch ncbigene:3172 semapv:UnspecifiedMatching OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:GRIK4 semapv:UnspecifiedMatching OMIM:600282 GRIK4 skos:exactMatch ncbigene:2900 semapv:UnspecifiedMatching -OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:GRIK5 semapv:UnspecifiedMatching OMIM:600283 GRIK5 skos:exactMatch ncbigene:2901 semapv:UnspecifiedMatching -OMIM:600284 ELL skos:exactMatch ncbigene:8178 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:GRIK5 semapv:UnspecifiedMatching OMIM:600284 ELL skos:exactMatch hgnc.symbol:ELL semapv:UnspecifiedMatching -OMIM:600285 ETF1 skos:exactMatch ncbigene:2107 semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch ncbigene:8178 semapv:UnspecifiedMatching OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:ETF1 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch ncbigene:2107 semapv:UnspecifiedMatching OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:PI4KA semapv:UnspecifiedMatching OMIM:600286 PI4KA skos:exactMatch ncbigene:5297 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C1414988 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch ncbigene:2617 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:GARS1 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C1414988 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:GARS1 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch ncbigene:2617 semapv:UnspecifiedMatching -OMIM:600288 FOXA2 skos:exactMatch ncbigene:3170 semapv:UnspecifiedMatching OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:FOXA2 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch ncbigene:3170 semapv:UnspecifiedMatching OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:MAPK14 semapv:UnspecifiedMatching OMIM:600289 MAPK14 skos:exactMatch ncbigene:1432 semapv:UnspecifiedMatching -OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:ADCY3 semapv:UnspecifiedMatching OMIM:600291 ADCY3 skos:exactMatch ncbigene:109 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:ADCY3 semapv:UnspecifiedMatching OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:ADCY4 semapv:UnspecifiedMatching OMIM:600292 ADCY4 skos:exactMatch ncbigene:196883 semapv:UnspecifiedMatching OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:ADCY5 semapv:UnspecifiedMatching OMIM:600293 ADCY5 skos:exactMatch ncbigene:111 semapv:UnspecifiedMatching -OMIM:600294 ADCY6 skos:exactMatch ncbigene:112 semapv:UnspecifiedMatching OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:ADCY6 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch ncbigene:112 semapv:UnspecifiedMatching OMIM:600295 NPPB skos:exactMatch hgnc.symbol:NPPB semapv:UnspecifiedMatching OMIM:600295 NPPB skos:exactMatch ncbigene:4879 semapv:UnspecifiedMatching -OMIM:600296 NPPC skos:exactMatch hgnc.symbol:NPPC semapv:UnspecifiedMatching OMIM:600296 NPPC skos:exactMatch ncbigene:4880 semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch hgnc.symbol:NPPC semapv:UnspecifiedMatching OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:CDX2 semapv:UnspecifiedMatching OMIM:600297 CDX2 skos:exactMatch ncbigene:1045 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch UMLS:C1416889 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch ncbigene:4009 semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:LMX1A semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch UMLS:C1416889 semapv:UnspecifiedMatching -OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:PCM1 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch ncbigene:4009 semapv:UnspecifiedMatching OMIM:600299 PCM1 skos:exactMatch ncbigene:5108 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:PCM1 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch UMLS:C1420120 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:SLC1A2 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch ncbigene:6506 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch ncbigene:36 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:ACADSB semapv:UnspecifiedMatching OMIM:600301 ACADSB skos:exactMatch UMLS:C1412109 semapv:UnspecifiedMatching OMIM:600301 ACADSB skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:ACADSB semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch ncbigene:36 semapv:UnspecifiedMatching OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:RAPGEF1 semapv:UnspecifiedMatching OMIM:600303 RAPGEF1 skos:exactMatch ncbigene:2889 semapv:UnspecifiedMatching OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:ECI1 semapv:UnspecifiedMatching OMIM:600305 ECI1 skos:exactMatch ncbigene:1632 semapv:UnspecifiedMatching -OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:PSMB5 semapv:UnspecifiedMatching OMIM:600306 PSMB5 skos:exactMatch ncbigene:5693 semapv:UnspecifiedMatching -OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:PSMB6 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:PSMB5 semapv:UnspecifiedMatching OMIM:600307 PSMB6 skos:exactMatch ncbigene:5694 semapv:UnspecifiedMatching -OMIM:600308 AQP4 skos:exactMatch ncbigene:361 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:PSMB6 semapv:UnspecifiedMatching OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:AQP4 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch ncbigene:361 semapv:UnspecifiedMatching OMIM:600310 COMP skos:exactMatch hgnc.symbol:COMP semapv:UnspecifiedMatching OMIM:600310 COMP skos:exactMatch ncbigene:1311 semapv:UnspecifiedMatching OMIM:600311 GZMM skos:exactMatch hgnc.symbol:GZMM semapv:UnspecifiedMatching OMIM:600311 GZMM skos:exactMatch ncbigene:3004 semapv:UnspecifiedMatching OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:NUDT1 semapv:UnspecifiedMatching OMIM:600312 NUDT1 skos:exactMatch ncbigene:4521 semapv:UnspecifiedMatching -OMIM:600314 SHB skos:exactMatch hgnc.symbol:SHB semapv:UnspecifiedMatching OMIM:600314 SHB skos:exactMatch ncbigene:6461 semapv:UnspecifiedMatching -OMIM:600315 TNFRSF4 skos:exactMatch ncbigene:7293 semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch hgnc.symbol:SHB semapv:UnspecifiedMatching OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:TNFRSF4 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch ncbigene:7293 semapv:UnspecifiedMatching OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:TPM4 semapv:UnspecifiedMatching OMIM:600317 TPM4 skos:exactMatch ncbigene:7171 semapv:UnspecifiedMatching OMIM:600318 iia 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching @@ -9999,15 +10003,15 @@ OMIM:600320 iia 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:Unsp OMIM:600321 iia 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch ncbigene:6616 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:SNAP25 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:RGS1 semapv:UnspecifiedMatching OMIM:600323 RGS1 skos:exactMatch ncbigene:5996 semapv:UnspecifiedMatching OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:CXCL5 semapv:UnspecifiedMatching OMIM:600324 CXCL5 skos:exactMatch ncbigene:6374 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:DDX6 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch UMLS:C0812257 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:DDX6 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch ncbigene:1656 semapv:UnspecifiedMatching OMIM:600327 SYT3 skos:exactMatch ncbigene:84258 semapv:UnspecifiedMatching OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:SYT3 semapv:UnspecifiedMatching @@ -10018,10 +10022,10 @@ OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:SLC18A3 semapv:UnspecifiedMatchi OMIM:600336 SLC18A3 skos:exactMatch ncbigene:6572 semapv:UnspecifiedMatching OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:BDKRB1 semapv:UnspecifiedMatching OMIM:600337 BDKRB1 skos:exactMatch ncbigene:623 semapv:UnspecifiedMatching -OMIM:600338 AADAC skos:exactMatch hgnc.symbol:AADAC semapv:UnspecifiedMatching OMIM:600338 AADAC skos:exactMatch ncbigene:13 semapv:UnspecifiedMatching -OMIM:600339 HDGF skos:exactMatch ncbigene:3068 semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch hgnc.symbol:AADAC semapv:UnspecifiedMatching OMIM:600339 HDGF skos:exactMatch hgnc.symbol:HDGF semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch ncbigene:3068 semapv:UnspecifiedMatching OMIM:600340 PLLP skos:exactMatch hgnc.symbol:PLLP semapv:UnspecifiedMatching OMIM:600340 PLLP skos:exactMatch ncbigene:51090 semapv:UnspecifiedMatching OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:TYRO3 semapv:UnspecifiedMatching @@ -10030,80 +10034,80 @@ OMIM:600342 RGR skos:exactMatch hgnc.symbol:RGR semapv:UnspecifiedMatching OMIM:600342 RGR skos:exactMatch ncbigene:5995 semapv:UnspecifiedMatching OMIM:600345 BTC skos:exactMatch ncbigene:685 semapv:UnspecifiedMatching OMIM:600345 BTC skos:exactMatch hgnc.symbol:BTC semapv:UnspecifiedMatching -OMIM:600346 PCGF2 skos:exactMatch ncbigene:7703 semapv:UnspecifiedMatching OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:PCGF2 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch ncbigene:7703 semapv:UnspecifiedMatching OMIM:600347 BCAN skos:exactMatch hgnc.symbol:BCAN semapv:UnspecifiedMatching OMIM:600347 BCAN skos:exactMatch ncbigene:63827 semapv:UnspecifiedMatching OMIM:600349 ID1 skos:exactMatch hgnc.symbol:ID1 semapv:UnspecifiedMatching OMIM:600349 ID1 skos:exactMatch ncbigene:3397 semapv:UnspecifiedMatching OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:S100A7 semapv:UnspecifiedMatching OMIM:600353 S100A7 skos:exactMatch ncbigene:6278 semapv:UnspecifiedMatching -OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:SMN1 semapv:UnspecifiedMatching OMIM:600354 SMN1 skos:exactMatch ncbigene:6606 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:SMN1 semapv:UnspecifiedMatching OMIM:600355 NAIP skos:exactMatch hgnc.symbol:NAIP semapv:UnspecifiedMatching OMIM:600355 NAIP skos:exactMatch ncbigene:4671 semapv:UnspecifiedMatching OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:RPS8 semapv:UnspecifiedMatching OMIM:600357 RPS8 skos:exactMatch ncbigene:6202 semapv:UnspecifiedMatching OMIM:600358 GMPS skos:exactMatch hgnc.symbol:GMPS semapv:UnspecifiedMatching OMIM:600358 GMPS skos:exactMatch ncbigene:8833 semapv:UnspecifiedMatching -OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching OMIM:600359 KCNJ1 skos:exactMatch ncbigene:3758 semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch ncbigene:2314 semapv:UnspecifiedMatching -OMIM:600364 GUCA1A skos:exactMatch ncbigene:2978 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:GUCA1A semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch ncbigene:2978 semapv:UnspecifiedMatching OMIM:600365 ABR skos:exactMatch hgnc.symbol:ABR semapv:UnspecifiedMatching OMIM:600365 ABR skos:exactMatch ncbigene:29 semapv:UnspecifiedMatching OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:ISL1 semapv:UnspecifiedMatching OMIM:600366 ISL1 skos:exactMatch ncbigene:3670 semapv:UnspecifiedMatching OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:CSTF3 semapv:UnspecifiedMatching OMIM:600367 CSTF3 skos:exactMatch ncbigene:1479 semapv:UnspecifiedMatching -OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:CSTF1 semapv:UnspecifiedMatching OMIM:600369 CSTF1 skos:exactMatch ncbigene:1477 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch ncbigene:5250 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:SLC25A3 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:CSTF1 semapv:UnspecifiedMatching OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1420160 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:SLC25A3 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch ncbigene:5250 semapv:UnspecifiedMatching OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:NEDD1 semapv:UnspecifiedMatching OMIM:600372 NEDD1 skos:exactMatch ncbigene:121441 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch ncbigene:585 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:BBS4 semapv:UnspecifiedMatching OMIM:600374 BBS4 skos:exactMatch UMLS:C1412749 semapv:UnspecifiedMatching OMIM:600374 BBS4 skos:exactMatch UMLS:C2936864 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:BBS4 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch ncbigene:585 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch ncbigene:7516 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:XRCC2 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C1337031 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching -OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:GALR1 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:XRCC2 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch ncbigene:7516 semapv:UnspecifiedMatching OMIM:600377 GALR1 skos:exactMatch ncbigene:2587 semapv:UnspecifiedMatching -OMIM:600378 IMMT skos:exactMatch hgnc.symbol:IMMT semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:GALR1 semapv:UnspecifiedMatching OMIM:600378 IMMT skos:exactMatch ncbigene:10989 semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch hgnc.symbol:IMMT semapv:UnspecifiedMatching OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:MYT1 semapv:UnspecifiedMatching OMIM:600379 MYT1 skos:exactMatch ncbigene:4661 semapv:UnspecifiedMatching -OMIM:600380 NR1H2 skos:exactMatch ncbigene:7376 semapv:UnspecifiedMatching OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:NR1H2 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch ncbigene:7376 semapv:UnspecifiedMatching OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:KTN1 semapv:UnspecifiedMatching OMIM:600381 KTN1 skos:exactMatch ncbigene:3895 semapv:UnspecifiedMatching OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:DENND4A semapv:UnspecifiedMatching OMIM:600382 myc promoter-binding protein skos:exactMatch ncbigene:10260 semapv:UnspecifiedMatching -OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:ADCY7 semapv:UnspecifiedMatching OMIM:600385 ADCY7 skos:exactMatch ncbigene:113 semapv:UnspecifiedMatching -OMIM:600386 ID2 skos:exactMatch ncbigene:3398 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:ADCY7 semapv:UnspecifiedMatching OMIM:600386 ID2 skos:exactMatch hgnc.symbol:ID2 semapv:UnspecifiedMatching -OMIM:600387 BST1 skos:exactMatch ncbigene:683 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch ncbigene:3398 semapv:UnspecifiedMatching OMIM:600387 BST1 skos:exactMatch hgnc.symbol:BST1 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch ncbigene:683 semapv:UnspecifiedMatching OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:MEP1A semapv:UnspecifiedMatching OMIM:600388 MEP1A skos:exactMatch ncbigene:4224 semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch UMLS:C1417118 semapv:UnspecifiedMatching OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:MEP1B semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch UMLS:C1417118 semapv:UnspecifiedMatching OMIM:600389 MEP1B skos:exactMatch ncbigene:4225 semapv:UnspecifiedMatching -OMIM:600390 USF2 skos:exactMatch hgnc.symbol:USF2 semapv:UnspecifiedMatching OMIM:600390 USF2 skos:exactMatch ncbigene:7392 semapv:UnspecifiedMatching -OMIM:600391 GCNT1 skos:exactMatch ncbigene:2650 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch hgnc.symbol:USF2 semapv:UnspecifiedMatching OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:GCNT1 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch ncbigene:2650 semapv:UnspecifiedMatching OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:RAD52 semapv:UnspecifiedMatching OMIM:600392 RAD52 skos:exactMatch ncbigene:5893 semapv:UnspecifiedMatching OMIM:600393 FEN1 skos:exactMatch UMLS:C1414583 semapv:UnspecifiedMatching @@ -10111,9 +10115,9 @@ OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:FEN1 semapv:UnspecifiedMatching OMIM:600393 FEN1 skos:exactMatch ncbigene:2237 semapv:UnspecifiedMatching OMIM:600395 GPC1 skos:exactMatch ncbigene:2817 semapv:UnspecifiedMatching OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:GPC1 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch UMLS:C1413965 semapv:UnspecifiedMatching OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:DHX8 semapv:UnspecifiedMatching OMIM:600396 DHX8 skos:exactMatch ncbigene:1659 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch UMLS:C1413965 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch UMLS:C1416554 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:KCNB1 semapv:UnspecifiedMatching @@ -10122,8 +10126,8 @@ OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:ZNF160 semapv:UnspecifiedMatching OMIM:600398 ZNF160 skos:exactMatch ncbigene:90338 semapv:UnspecifiedMatching OMIM:600400 PREP skos:exactMatch ncbigene:5550 semapv:UnspecifiedMatching OMIM:600400 PREP skos:exactMatch hgnc.symbol:PREP semapv:UnspecifiedMatching -OMIM:600403 FAP skos:exactMatch ncbigene:2191 semapv:UnspecifiedMatching OMIM:600403 FAP skos:exactMatch hgnc.symbol:FAP semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch ncbigene:2191 semapv:UnspecifiedMatching OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:RFC2 semapv:UnspecifiedMatching OMIM:600404 RFC2 skos:exactMatch ncbigene:5982 semapv:UnspecifiedMatching OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:RFC3 semapv:UnspecifiedMatching @@ -10132,20 +10136,20 @@ OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:RFC5 semapv:UnspecifiedMatching OMIM:600407 RFC5 skos:exactMatch ncbigene:5985 semapv:UnspecifiedMatching OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:DDR1 semapv:UnspecifiedMatching OMIM:600408 DDR1 skos:exactMatch ncbigene:780 semapv:UnspecifiedMatching -OMIM:600409 PPARD skos:exactMatch ncbigene:5467 semapv:UnspecifiedMatching OMIM:600409 PPARD skos:exactMatch hgnc.symbol:PPARD semapv:UnspecifiedMatching -OMIM:600410 TNFAIP6 skos:exactMatch ncbigene:7130 semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch ncbigene:5467 semapv:UnspecifiedMatching OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:TNFAIP6 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch ncbigene:7130 semapv:UnspecifiedMatching OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:GBP1 semapv:UnspecifiedMatching OMIM:600411 GBP1 skos:exactMatch ncbigene:2633 semapv:UnspecifiedMatching OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:GBP2 semapv:UnspecifiedMatching OMIM:600412 GBP2 skos:exactMatch ncbigene:2634 semapv:UnspecifiedMatching -OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:GBP3 semapv:UnspecifiedMatching OMIM:600413 GBP3 skos:exactMatch ncbigene:2635 semapv:UnspecifiedMatching -OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:PEX5 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:GBP3 semapv:UnspecifiedMatching OMIM:600414 PEX5 skos:exactMatch ncbigene:5830 semapv:UnspecifiedMatching -OMIM:600415 TTPA skos:exactMatch ncbigene:7274 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:PEX5 semapv:UnspecifiedMatching OMIM:600415 TTPA skos:exactMatch hgnc.symbol:TTPA semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch ncbigene:7274 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch UMLS:C1417862 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch UMLS:C4016664 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:NT5C2 semapv:UnspecifiedMatching @@ -10154,34 +10158,34 @@ OMIM:600418 AMPH skos:exactMatch hgnc.symbol:AMPH semapv:UnspecifiedMatching OMIM:600418 AMPH skos:exactMatch ncbigene:273 semapv:UnspecifiedMatching OMIM:600421 GLRA3 skos:exactMatch ncbigene:8001 semapv:UnspecifiedMatching OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:GLRA3 semapv:UnspecifiedMatching -OMIM:600422 FABP6 skos:exactMatch ncbigene:2172 semapv:UnspecifiedMatching OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:FABP6 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch ncbigene:2172 semapv:UnspecifiedMatching OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:ECE1 semapv:UnspecifiedMatching OMIM:600423 ECE1 skos:exactMatch ncbigene:1889 semapv:UnspecifiedMatching OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:SLC19A1 semapv:UnspecifiedMatching OMIM:600424 SLC19A1 skos:exactMatch ncbigene:6573 semapv:UnspecifiedMatching OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:E2F2 semapv:UnspecifiedMatching OMIM:600426 E2F2 skos:exactMatch ncbigene:1870 semapv:UnspecifiedMatching -OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:E2F3 semapv:UnspecifiedMatching OMIM:600427 E2F3 skos:exactMatch ncbigene:1871 semapv:UnspecifiedMatching -OMIM:600428 VAV2 skos:exactMatch ncbigene:7410 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:E2F3 semapv:UnspecifiedMatching OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:VAV2 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch ncbigene:7410 semapv:UnspecifiedMatching OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:GCNT2 semapv:UnspecifiedMatching OMIM:600429 GCNT2 skos:exactMatch ncbigene:2651 semapv:UnspecifiedMatching OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:CDKN2B semapv:UnspecifiedMatching OMIM:600431 CDKN2B skos:exactMatch ncbigene:1030 semapv:UnspecifiedMatching -OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:CBLN1 semapv:UnspecifiedMatching OMIM:600432 CBLN1 skos:exactMatch ncbigene:869 semapv:UnspecifiedMatching -OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:CBLN2 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:CBLN1 semapv:UnspecifiedMatching OMIM:600433 CBLN2 skos:exactMatch ncbigene:147381 semapv:UnspecifiedMatching -OMIM:600434 FABP4 skos:exactMatch ncbigene:2167 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:CBLN2 semapv:UnspecifiedMatching OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:FABP4 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch ncbigene:2167 semapv:UnspecifiedMatching OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:CTF1 semapv:UnspecifiedMatching OMIM:600435 CTF1 skos:exactMatch ncbigene:1489 semapv:UnspecifiedMatching OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:GSTT1 semapv:UnspecifiedMatching OMIM:600436 GSTT1 skos:exactMatch ncbigene:2952 semapv:UnspecifiedMatching -OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:GSTT2 semapv:UnspecifiedMatching OMIM:600437 GSTT2 skos:exactMatch ncbigene:2953 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:GSTT2 semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch ncbigene:7019 semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch hgnc.symbol:TFAM semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch UMLS:C4310690 semapv:UnspecifiedMatching @@ -10195,16 +10199,16 @@ OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:ENDOG semapv:UnspecifiedMatching OMIM:600440 ENDOG skos:exactMatch ncbigene:2021 semapv:UnspecifiedMatching OMIM:600441 GAS6 skos:exactMatch ncbigene:2621 semapv:UnspecifiedMatching OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:GAS6 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch ncbigene:362 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:AQP5 semapv:UnspecifiedMatching OMIM:600442 AQP5 skos:exactMatch UMLS:C1412495 semapv:UnspecifiedMatching OMIM:600442 AQP5 skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:AQP5 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch ncbigene:362 semapv:UnspecifiedMatching OMIM:600443 GLRX skos:exactMatch hgnc.symbol:GLRX semapv:UnspecifiedMatching OMIM:600443 GLRX skos:exactMatch ncbigene:2745 semapv:UnspecifiedMatching OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:SLC5A3 semapv:UnspecifiedMatching OMIM:600444 SLC5A3 skos:exactMatch ncbigene:6526 semapv:UnspecifiedMatching -OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:ADORA3 semapv:UnspecifiedMatching OMIM:600445 ADORA3 skos:exactMatch ncbigene:140 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:ADORA3 semapv:UnspecifiedMatching OMIM:600446 ADORA2B skos:exactMatch UMLS:C1412247 semapv:UnspecifiedMatching OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:ADORA2B semapv:UnspecifiedMatching OMIM:600446 ADORA2B skos:exactMatch ncbigene:136 semapv:UnspecifiedMatching @@ -10214,10 +10218,10 @@ OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:PRKCQ semapv:UnspecifiedMatching OMIM:600448 PRKCQ skos:exactMatch ncbigene:5588 semapv:UnspecifiedMatching OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:AKR1C1 semapv:UnspecifiedMatching OMIM:600449 AKR1C1 skos:exactMatch ncbigene:1645 semapv:UnspecifiedMatching -OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:AKR1C2 semapv:UnspecifiedMatching OMIM:600450 AKR1C2 skos:exactMatch ncbigene:1646 semapv:UnspecifiedMatching -OMIM:600451 AKR1C4 skos:exactMatch ncbigene:1109 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:AKR1C2 semapv:UnspecifiedMatching OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:AKR1C4 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch ncbigene:1109 semapv:UnspecifiedMatching OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:TRIM25 semapv:UnspecifiedMatching OMIM:600453 TRIM25 skos:exactMatch ncbigene:7706 semapv:UnspecifiedMatching OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:RPS3 semapv:UnspecifiedMatching @@ -10226,25 +10230,25 @@ OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:SNORD15A semapv:UnspecifiedMatchi OMIM:600455 RNU15A skos:exactMatch ncbigene:6079 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch ncbigene:4915 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:NTRK2 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch UMLS:C1334909 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:ALDH1A3 semapv:UnspecifiedMatching OMIM:600463 ALDH1A3 skos:exactMatch ncbigene:220 semapv:UnspecifiedMatching OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:ARF6 semapv:UnspecifiedMatching OMIM:600464 ARF6 skos:exactMatch ncbigene:382 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch ncbigene:288 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:ANK3 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch ncbigene:288 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch UMLS:C1412404 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch UMLS:C1412404 semapv:UnspecifiedMatching OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:ALDH3B1 semapv:UnspecifiedMatching OMIM:600466 ALDH3B1 skos:exactMatch ncbigene:221 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:NCBP1 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch ncbigene:4686 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:ZIC1 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch ncbigene:7545 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:ZIC1 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch UMLS:C1421581 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching OMIM:600471 DEFA6 skos:exactMatch UMLS:C1413977 semapv:UnspecifiedMatching @@ -10253,32 +10257,32 @@ OMIM:600471 DEFA6 skos:exactMatch ncbigene:1671 semapv:UnspecifiedMatching OMIM:600472 DEFA5 skos:exactMatch UMLS:C1413976 semapv:UnspecifiedMatching OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:DEFA5 semapv:UnspecifiedMatching OMIM:600472 DEFA5 skos:exactMatch ncbigene:1670 semapv:UnspecifiedMatching -OMIM:600473 PURA skos:exactMatch hgnc.symbol:PURA semapv:UnspecifiedMatching OMIM:600473 PURA skos:exactMatch ncbigene:5813 semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch hgnc.symbol:PURA semapv:UnspecifiedMatching OMIM:600474 CAMP skos:exactMatch hgnc.symbol:CAMP semapv:UnspecifiedMatching OMIM:600474 CAMP skos:exactMatch ncbigene:820 semapv:UnspecifiedMatching -OMIM:600475 TAF10 skos:exactMatch ncbigene:6881 semapv:UnspecifiedMatching OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:TAF10 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch ncbigene:6881 semapv:UnspecifiedMatching OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:SLC9A5 semapv:UnspecifiedMatching OMIM:600477 SLC9A5 skos:exactMatch ncbigene:6553 semapv:UnspecifiedMatching OMIM:600478 SKIC2 skos:exactMatch hgnc.symbol:SKIC2 semapv:UnspecifiedMatching OMIM:600478 SKIC2 skos:exactMatch ncbigene:6499 semapv:UnspecifiedMatching OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:TCF12 semapv:UnspecifiedMatching OMIM:600480 TCF12 skos:exactMatch ncbigene:6938 semapv:UnspecifiedMatching -OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:SREBF2 semapv:UnspecifiedMatching OMIM:600481 SREBF2 skos:exactMatch ncbigene:6721 semapv:UnspecifiedMatching -OMIM:600483 FGF8 skos:exactMatch ncbigene:2253 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:SREBF2 semapv:UnspecifiedMatching OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:FGF8 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch ncbigene:2253 semapv:UnspecifiedMatching OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:PCSK4 semapv:UnspecifiedMatching OMIM:600487 PCSK4 skos:exactMatch ncbigene:54760 semapv:UnspecifiedMatching OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:PCSK5 semapv:UnspecifiedMatching OMIM:600488 PCSK5 skos:exactMatch ncbigene:5125 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch UMLS:C1417694 semapv:UnspecifiedMatching OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:NFATC1 semapv:UnspecifiedMatching OMIM:600489 NFATC1 skos:exactMatch ncbigene:4772 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch ncbigene:4773 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:NFATC2 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch UMLS:C1417694 semapv:UnspecifiedMatching OMIM:600490 NFATC2 skos:exactMatch UMLS:C1417695 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:NFATC2 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch ncbigene:4773 semapv:UnspecifiedMatching OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:MFAP3 semapv:UnspecifiedMatching OMIM:600491 MFAP3 skos:exactMatch ncbigene:4238 semapv:UnspecifiedMatching OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:NFE2L2 semapv:UnspecifiedMatching @@ -10293,24 +10297,24 @@ OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:PRKAA2 semapv:UnspecifiedMatching OMIM:600497 PRKAA2 skos:exactMatch ncbigene:5563 semapv:UnspecifiedMatching OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:IGHMBP2 semapv:UnspecifiedMatching OMIM:600502 IGHMBP2 skos:exactMatch ncbigene:3508 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:SUB1 semapv:UnspecifiedMatching OMIM:600503 SUB1 skos:exactMatch UMLS:C1709390 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:SUB1 semapv:UnspecifiedMatching OMIM:600503 SUB1 skos:exactMatch ncbigene:10923 semapv:UnspecifiedMatching -OMIM:600504 KCNJ4 skos:exactMatch ncbigene:3761 semapv:UnspecifiedMatching OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:KCNJ4 semapv:UnspecifiedMatching -OMIM:600505 CSNK1A1 skos:exactMatch ncbigene:1452 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch ncbigene:3761 semapv:UnspecifiedMatching OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:CSNK1A1 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch ncbigene:1452 semapv:UnspecifiedMatching OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:NCK1 semapv:UnspecifiedMatching OMIM:600508 NCK1 skos:exactMatch ncbigene:4690 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394566 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C2931832 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:ABCC8 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C1412082 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching OMIM:600514 RELN skos:exactMatch hgnc.symbol:RELN semapv:UnspecifiedMatching OMIM:600514 RELN skos:exactMatch ncbigene:5649 semapv:UnspecifiedMatching OMIM:600515 P2RY12 skos:exactMatch UMLS:C1425330 semapv:UnspecifiedMatching @@ -10319,18 +10323,18 @@ OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:P2RY12 semapv:UnspecifiedMatching OMIM:600515 P2RY12 skos:exactMatch ncbigene:64805 semapv:UnspecifiedMatching OMIM:600516 BAK1 skos:exactMatch ncbigene:578 semapv:UnspecifiedMatching OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:BAK1 semapv:UnspecifiedMatching -OMIM:600517 SERPINB3 skos:exactMatch ncbigene:6317 semapv:UnspecifiedMatching OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:SERPINB3 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch ncbigene:6317 semapv:UnspecifiedMatching OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:SERPINB4 semapv:UnspecifiedMatching OMIM:600518 SERPINB4 skos:exactMatch ncbigene:6318 semapv:UnspecifiedMatching OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:GTF2A2 semapv:UnspecifiedMatching OMIM:600519 GTF2A2 skos:exactMatch ncbigene:2958 semapv:UnspecifiedMatching OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:GTF2A1 semapv:UnspecifiedMatching OMIM:600520 GTF2A1 skos:exactMatch ncbigene:2957 semapv:UnspecifiedMatching -OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:MASP1 semapv:UnspecifiedMatching OMIM:600521 MASP1 skos:exactMatch ncbigene:5648 semapv:UnspecifiedMatching -OMIM:600522 PLA2G4A skos:exactMatch ncbigene:5321 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:MASP1 semapv:UnspecifiedMatching OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:PLA2G4A semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch ncbigene:5321 semapv:UnspecifiedMatching OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:SLC11A2 semapv:UnspecifiedMatching OMIM:600523 SLC11A2 skos:exactMatch ncbigene:4891 semapv:UnspecifiedMatching OMIM:600524 RYK skos:exactMatch hgnc.symbol:RYK semapv:UnspecifiedMatching @@ -10339,18 +10343,18 @@ OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:DLX3 semapv:UnspecifiedMatching OMIM:600525 DLX3 skos:exactMatch ncbigene:1747 semapv:UnspecifiedMatching OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:MARK2 semapv:UnspecifiedMatching OMIM:600526 MARK2 skos:exactMatch ncbigene:2011 semapv:UnspecifiedMatching -OMIM:600527 EFNB2 skos:exactMatch ncbigene:1948 semapv:UnspecifiedMatching OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:EFNB2 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C1413688 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C4749072 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C4749136 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch ncbigene:1948 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:CPT1A semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C4749136 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch ncbigene:1374 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C1413688 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C4749072 semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch ncbigene:549 semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch hgnc.symbol:AUH semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch UMLS:C1332121 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:SLC9A2 semapv:UnspecifiedMatching OMIM:600530 SLC9A2 skos:exactMatch ncbigene:6549 semapv:UnspecifiedMatching OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:SLC9A4 semapv:UnspecifiedMatching @@ -10359,38 +10363,38 @@ OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:NDUFV2 semapv:UnspecifiedMatching OMIM:600532 NDUFV2 skos:exactMatch ncbigene:4729 semapv:UnspecifiedMatching OMIM:600533 VANGL2 skos:exactMatch ncbigene:57216 semapv:UnspecifiedMatching OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:VANGL2 semapv:UnspecifiedMatching -OMIM:600534 BST2 skos:exactMatch ncbigene:684 semapv:UnspecifiedMatching OMIM:600534 BST2 skos:exactMatch hgnc.symbol:BST2 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch ncbigene:684 semapv:UnspecifiedMatching OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:MEOX2 semapv:UnspecifiedMatching OMIM:600535 MEOX2 skos:exactMatch ncbigene:4223 semapv:UnspecifiedMatching OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:ITGA7 semapv:UnspecifiedMatching OMIM:600536 ITGA7 skos:exactMatch ncbigene:3679 semapv:UnspecifiedMatching -OMIM:600537 RECQL skos:exactMatch hgnc.symbol:RECQL semapv:UnspecifiedMatching OMIM:600537 RECQL skos:exactMatch ncbigene:5965 semapv:UnspecifiedMatching -OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:PRDX2 semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch hgnc.symbol:RECQL semapv:UnspecifiedMatching OMIM:600538 PRDX2 skos:exactMatch ncbigene:7001 semapv:UnspecifiedMatching -OMIM:600539 PRKCI skos:exactMatch ncbigene:5584 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:PRDX2 semapv:UnspecifiedMatching OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:PRKCI semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch ncbigene:5584 semapv:UnspecifiedMatching OMIM:600540 SP4 skos:exactMatch hgnc.symbol:SP4 semapv:UnspecifiedMatching OMIM:600540 SP4 skos:exactMatch ncbigene:6671 semapv:UnspecifiedMatching OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:ETV1 semapv:UnspecifiedMatching OMIM:600541 ETV1 skos:exactMatch ncbigene:2115 semapv:UnspecifiedMatching OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:NR4A3 semapv:UnspecifiedMatching OMIM:600542 NR4A3 skos:exactMatch ncbigene:8013 semapv:UnspecifiedMatching -OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:ERBB4 semapv:UnspecifiedMatching OMIM:600543 ERBB4 skos:exactMatch ncbigene:2066 semapv:UnspecifiedMatching -OMIM:600544 SLC15A1 skos:exactMatch ncbigene:6564 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:ERBB4 semapv:UnspecifiedMatching OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:SLC15A1 semapv:UnspecifiedMatching -OMIM:600547 CCBL1 skos:exactMatch ncbigene:883 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch ncbigene:6564 semapv:UnspecifiedMatching OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:KYAT1 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch ncbigene:883 semapv:UnspecifiedMatching OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:HSPA9 semapv:UnspecifiedMatching OMIM:600548 HSPA9 skos:exactMatch ncbigene:3313 semapv:UnspecifiedMatching OMIM:600549 IK skos:exactMatch hgnc.symbol:IK semapv:UnspecifiedMatching OMIM:600549 IK skos:exactMatch ncbigene:3550 semapv:UnspecifiedMatching OMIM:600550 CTSO skos:exactMatch hgnc.symbol:CTSO semapv:UnspecifiedMatching OMIM:600550 CTSO skos:exactMatch ncbigene:1519 semapv:UnspecifiedMatching -OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:GPR4 semapv:UnspecifiedMatching OMIM:600551 GPR4 skos:exactMatch ncbigene:2828 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:GPR4 semapv:UnspecifiedMatching OMIM:600552 XCR1 skos:exactMatch ncbigene:2829 semapv:UnspecifiedMatching OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:XCR1 semapv:UnspecifiedMatching OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:GPR6 semapv:UnspecifiedMatching @@ -10398,19 +10402,19 @@ OMIM:600553 GPR6 skos:exactMatch ncbigene:2830 semapv:UnspecifiedMatching OMIM:600554 IL15 skos:exactMatch UMLS:C1334105 semapv:UnspecifiedMatching OMIM:600554 IL15 skos:exactMatch hgnc.symbol:IL15 semapv:UnspecifiedMatching OMIM:600554 IL15 skos:exactMatch ncbigene:3600 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:STAT1 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch ncbigene:6772 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C1335872 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:STAT1 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch ncbigene:6772 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C1335873 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C4225260 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:STAT2 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch ncbigene:6773 semapv:UnspecifiedMatching -OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:STAT4 semapv:UnspecifiedMatching OMIM:600558 STAT4 skos:exactMatch ncbigene:6775 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:STAT4 semapv:UnspecifiedMatching OMIM:600560 SHC1 skos:exactMatch ncbigene:6464 semapv:UnspecifiedMatching OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:SHC1 semapv:UnspecifiedMatching OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:CDH12 semapv:UnspecifiedMatching @@ -10419,50 +10423,50 @@ OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:PTGFR semapv:UnspecifiedMatching OMIM:600563 PTGFR skos:exactMatch ncbigene:5737 semapv:UnspecifiedMatching OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:ITIH4 semapv:UnspecifiedMatching OMIM:600564 ITIH4 skos:exactMatch ncbigene:3700 semapv:UnspecifiedMatching -OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:NRXN1 semapv:UnspecifiedMatching OMIM:600565 NRXN1 skos:exactMatch ncbigene:9378 semapv:UnspecifiedMatching -OMIM:600566 NRXN2 skos:exactMatch ncbigene:9379 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:NRXN1 semapv:UnspecifiedMatching OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:NRXN2 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch ncbigene:9369 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch ncbigene:9379 semapv:UnspecifiedMatching OMIM:600567 NRXN3 skos:exactMatch UMLS:C1417853 semapv:UnspecifiedMatching OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:NRXN3 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch ncbigene:9369 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C1422548 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:NLGN1 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch ncbigene:22871 semapv:UnspecifiedMatching -OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:CLCN2 semapv:UnspecifiedMatching OMIM:600570 CLCN2 skos:exactMatch ncbigene:1181 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch UMLS:C4225584 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:CLCN2 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C1419346 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C3887929 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch UMLS:C4225584 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C4539942 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch hgnc.symbol:REST semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch ncbigene:5978 semapv:UnspecifiedMatching OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:SRSF7 semapv:UnspecifiedMatching OMIM:600572 SRSF7 skos:exactMatch ncbigene:6432 semapv:UnspecifiedMatching -OMIM:600573 TAF7 skos:exactMatch ncbigene:6879 semapv:UnspecifiedMatching OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:TAF7 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch ncbigene:6879 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch ncbigene:8216 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:LZTR1 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C4225280 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C1416947 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C3810283 semapv:UnspecifiedMatching OMIM:600575 TSN skos:exactMatch hgnc.symbol:TSN semapv:UnspecifiedMatching OMIM:600575 TSN skos:exactMatch ncbigene:7247 semapv:UnspecifiedMatching -OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:GATA4 semapv:UnspecifiedMatching OMIM:600576 GATA4 skos:exactMatch ncbigene:2626 semapv:UnspecifiedMatching -OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:LHX3 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:GATA4 semapv:UnspecifiedMatching OMIM:600577 LHX3 skos:exactMatch ncbigene:8022 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:LHX3 semapv:UnspecifiedMatching OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:OR2H2 semapv:UnspecifiedMatching OMIM:600578 OR2H3 skos:exactMatch ncbigene:7932 semapv:UnspecifiedMatching OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:PTPRO semapv:UnspecifiedMatching OMIM:600579 PTPRO skos:exactMatch ncbigene:5800 semapv:UnspecifiedMatching OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:CLCN3 semapv:UnspecifiedMatching OMIM:600580 CLCN3 skos:exactMatch ncbigene:1182 semapv:UnspecifiedMatching -OMIM:600581 ID4 skos:exactMatch ncbigene:3400 semapv:UnspecifiedMatching OMIM:600581 ID4 skos:exactMatch hgnc.symbol:ID4 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch ncbigene:3400 semapv:UnspecifiedMatching OMIM:600582 ASPH skos:exactMatch ncbigene:444 semapv:UnspecifiedMatching OMIM:600582 ASPH skos:exactMatch hgnc.symbol:ASPH semapv:UnspecifiedMatching OMIM:600583 TEC skos:exactMatch hgnc.symbol:TEC semapv:UnspecifiedMatching @@ -10481,9 +10485,9 @@ OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:PPP1CB semapv:UnspecifiedMatching OMIM:600590 PPP1CB skos:exactMatch ncbigene:5500 semapv:UnspecifiedMatching OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:SNAPC1 semapv:UnspecifiedMatching OMIM:600591 SNAPC1 skos:exactMatch ncbigene:6617 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch UMLS:C1334494 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:MCM7 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch ncbigene:9993 semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:DGCR2 semapv:UnspecifiedMatching OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:IFT88 semapv:UnspecifiedMatching @@ -10502,8 +10506,8 @@ OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:VPS72 semapv:UnspecifiedMatching OMIM:600607 VPS72 skos:exactMatch ncbigene:6944 semapv:UnspecifiedMatching OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:P4HA2 semapv:UnspecifiedMatching OMIM:600608 P4HA2 skos:exactMatch ncbigene:8974 semapv:UnspecifiedMatching -OMIM:600609 GABPA skos:exactMatch ncbigene:2551 semapv:UnspecifiedMatching OMIM:600609 GABPA skos:exactMatch hgnc.symbol:GABPA semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch ncbigene:2551 semapv:UnspecifiedMatching OMIM:600610 GABPB skos:exactMatch ncbigene:2553 semapv:UnspecifiedMatching OMIM:600610 GABPB skos:exactMatch hgnc.symbol:GABPB1 semapv:UnspecifiedMatching OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:FKBP4 semapv:UnspecifiedMatching @@ -10523,8 +10527,8 @@ OMIM:600618 ETV6 skos:exactMatch UMLS:C4015537 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:ETV6 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch ncbigene:2120 semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch ncbigene:2281 semapv:UnspecifiedMatching OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:FKBP1B semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch ncbigene:2281 semapv:UnspecifiedMatching OMIM:600620 FKBP1B skos:exactMatch UMLS:C1414619 semapv:UnspecifiedMatching OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:STMN2 semapv:UnspecifiedMatching OMIM:600621 STMN2 skos:exactMatch ncbigene:11075 semapv:UnspecifiedMatching @@ -10533,16 +10537,16 @@ OMIM:600623 CD82 skos:exactMatch ncbigene:3732 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C1833563 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:600626 LGALS3BP skos:exactMatch ncbigene:3959 semapv:UnspecifiedMatching OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:LGALS3BP semapv:UnspecifiedMatching -OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch ncbigene:3959 semapv:UnspecifiedMatching OMIM:600629 HLA-DOB skos:exactMatch ncbigene:3112 semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch hgnc.symbol:OPCML semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch ncbigene:4978 semapv:UnspecifiedMatching OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:TFF3 semapv:UnspecifiedMatching OMIM:600633 TFF3 skos:exactMatch ncbigene:7033 semapv:UnspecifiedMatching -OMIM:600635 NKX2-1 skos:exactMatch ncbigene:7080 semapv:UnspecifiedMatching OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:NKX2-1 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch ncbigene:7080 semapv:UnspecifiedMatching OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:CASP3 semapv:UnspecifiedMatching OMIM:600636 CASP3 skos:exactMatch ncbigene:836 semapv:UnspecifiedMatching OMIM:600636 CASP3 skos:exactMatch UMLS:C1413132 semapv:UnspecifiedMatching @@ -10554,41 +10558,41 @@ OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:SULT1A3 semapv:UnspecifiedMatchi OMIM:600641 SULT1A3 skos:exactMatch ncbigene:6818 semapv:UnspecifiedMatching OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:MYO1G semapv:UnspecifiedMatching OMIM:600642 MYO1G skos:exactMatch ncbigene:64005 semapv:UnspecifiedMatching -OMIM:600644 NECTIN1 skos:exactMatch ncbigene:5818 semapv:UnspecifiedMatching OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:NECTIN1 semapv:UnspecifiedMatching -OMIM:600646 PROCR skos:exactMatch hgnc.symbol:PROCR semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch ncbigene:5818 semapv:UnspecifiedMatching OMIM:600646 PROCR skos:exactMatch ncbigene:10544 semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch hgnc.symbol:PROCR semapv:UnspecifiedMatching OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:HMX2 semapv:UnspecifiedMatching OMIM:600647 HMX2 skos:exactMatch ncbigene:3167 semapv:UnspecifiedMatching OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:CPT2 semapv:UnspecifiedMatching OMIM:600650 CPT2 skos:exactMatch ncbigene:1376 semapv:UnspecifiedMatching OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:PSME1 semapv:UnspecifiedMatching OMIM:600654 PSME1 skos:exactMatch ncbigene:5720 semapv:UnspecifiedMatching -OMIM:600655 EEF1B2 skos:exactMatch ncbigene:1933 semapv:UnspecifiedMatching OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:EEF1B2 semapv:UnspecifiedMatching -OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:PPP5C semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch ncbigene:1933 semapv:UnspecifiedMatching OMIM:600658 PPP5C skos:exactMatch ncbigene:5536 semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:PPP5C semapv:UnspecifiedMatching OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:E2F4 semapv:UnspecifiedMatching OMIM:600659 E2F4 skos:exactMatch ncbigene:1874 semapv:UnspecifiedMatching OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:MEF2A semapv:UnspecifiedMatching OMIM:600660 MEF2A skos:exactMatch ncbigene:4205 semapv:UnspecifiedMatching -OMIM:600661 MEF2B skos:exactMatch ncbigene:100271849 semapv:UnspecifiedMatching OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:MEF2B semapv:UnspecifiedMatching -OMIM:600662 MEF2C skos:exactMatch ncbigene:4208 semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch ncbigene:100271849 semapv:UnspecifiedMatching OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:MEF2C semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch UMLS:C1417103 semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:MEF2D semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch ncbigene:4208 semapv:UnspecifiedMatching OMIM:600663 MEF2D skos:exactMatch ncbigene:4209 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch hgnc.symbol:CHUK semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:MEF2D semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch UMLS:C1417103 semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch UMLS:C1413419 semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch hgnc.symbol:CHUK semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch ncbigene:1147 semapv:UnspecifiedMatching -OMIM:600665 MTNR1A skos:exactMatch ncbigene:4543 semapv:UnspecifiedMatching OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:MTNR1A semapv:UnspecifiedMatching -OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch ncbigene:4543 semapv:UnspecifiedMatching OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:FZD2 semapv:UnspecifiedMatching -OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching OMIM:600668 chondrocalcinosis 1 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching OMIM:600673 UBTF skos:exactMatch hgnc.symbol:UBTF semapv:UnspecifiedMatching OMIM:600673 UBTF skos:exactMatch ncbigene:7343 semapv:UnspecifiedMatching OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:XRCC3 semapv:UnspecifiedMatching @@ -10599,17 +10603,17 @@ OMIM:600678 MSH6 skos:exactMatch ncbigene:2956 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:MSH6 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C1833477 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch UMLS:C0879393 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch UMLS:C0879393 semapv:UnspecifiedMatching OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:KCNJ2 semapv:UnspecifiedMatching OMIM:600681 KCNJ2 skos:exactMatch ncbigene:3759 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:SLC16A1 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch ncbigene:6566 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016684 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016683 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:SLC16A1 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1420102 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016683 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching OMIM:600684 LY9 skos:exactMatch hgnc.symbol:LY9 semapv:UnspecifiedMatching OMIM:600684 LY9 skos:exactMatch ncbigene:4063 semapv:UnspecifiedMatching OMIM:600685 KPNA2 skos:exactMatch UMLS:C1416700 semapv:UnspecifiedMatching @@ -10617,8 +10621,8 @@ OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:KPNA2 semapv:UnspecifiedMatching OMIM:600685 KPNA2 skos:exactMatch ncbigene:3838 semapv:UnspecifiedMatching OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:KPNA1 semapv:UnspecifiedMatching OMIM:600686 KPNA1 skos:exactMatch ncbigene:3836 semapv:UnspecifiedMatching -OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:TIAM1 semapv:UnspecifiedMatching OMIM:600687 TIAM1 skos:exactMatch ncbigene:7074 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:TIAM1 semapv:UnspecifiedMatching OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:CPA2 semapv:UnspecifiedMatching OMIM:600688 CPA2 skos:exactMatch ncbigene:1358 semapv:UnspecifiedMatching OMIM:600690 TCTA skos:exactMatch hgnc.symbol:TCTA semapv:UnspecifiedMatching @@ -10627,56 +10631,56 @@ OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:SLC27A1 semapv:UnspecifiedMatchi OMIM:600691 SLC27A1 skos:exactMatch ncbigene:376497 semapv:UnspecifiedMatching OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:TNNT3 semapv:UnspecifiedMatching OMIM:600692 TNNT3 skos:exactMatch ncbigene:7140 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:PTBP1 semapv:UnspecifiedMatching OMIM:600693 PTBP1 skos:exactMatch UMLS:C1419054 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:PTBP1 semapv:UnspecifiedMatching OMIM:600693 PTBP1 skos:exactMatch ncbigene:5725 semapv:UnspecifiedMatching -OMIM:600694 IL6ST skos:exactMatch ncbigene:3572 semapv:UnspecifiedMatching OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:IL6ST semapv:UnspecifiedMatching -OMIM:600696 ECH1 skos:exactMatch ncbigene:1891 semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch ncbigene:3572 semapv:UnspecifiedMatching OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:ECH1 semapv:UnspecifiedMatching -OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:RBBP5 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch ncbigene:1891 semapv:UnspecifiedMatching OMIM:600697 RBBP5 skos:exactMatch ncbigene:5929 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch UMLS:C1333906 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:RBBP5 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:HMGA2 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch UMLS:C1333906 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch ncbigene:8091 semapv:UnspecifiedMatching OMIM:600700 LPP skos:exactMatch hgnc.symbol:LPP semapv:UnspecifiedMatching OMIM:600700 LPP skos:exactMatch ncbigene:4026 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch ncbigene:3159 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:HMGA1 semapv:UnspecifiedMatching OMIM:600701 HMGA1 skos:exactMatch UMLS:C1333903 semapv:UnspecifiedMatching OMIM:600701 HMGA1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:HMGA1 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch ncbigene:3159 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:SCN8A semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C5193184 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch ncbigene:6334 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C1419866 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching -OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:SRP9 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C5193184 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:SCN8A semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch ncbigene:6334 semapv:UnspecifiedMatching OMIM:600707 SRP9 skos:exactMatch ncbigene:6726 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:SRP9 semapv:UnspecifiedMatching OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:SRP14 semapv:UnspecifiedMatching OMIM:600708 SRP14 skos:exactMatch ncbigene:6727 semapv:UnspecifiedMatching OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:IARS1 semapv:UnspecifiedMatching OMIM:600709 IARS1 skos:exactMatch ncbigene:3376 semapv:UnspecifiedMatching -OMIM:600711 ETV4 skos:exactMatch ncbigene:2118 semapv:UnspecifiedMatching OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:ETV4 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch ncbigene:2118 semapv:UnspecifiedMatching OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:HNRNPK semapv:UnspecifiedMatching OMIM:600712 HNRNPK skos:exactMatch ncbigene:3190 semapv:UnspecifiedMatching -OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:HSD11B1 semapv:UnspecifiedMatching OMIM:600713 HSD11B1 skos:exactMatch ncbigene:3290 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:HSD11B1 semapv:UnspecifiedMatching OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:DUSP1 semapv:UnspecifiedMatching OMIM:600714 DUSP1 skos:exactMatch ncbigene:1843 semapv:UnspecifiedMatching OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:THBS4 semapv:UnspecifiedMatching OMIM:600715 THBS4 skos:exactMatch ncbigene:7060 semapv:UnspecifiedMatching -OMIM:600716 PTPN22 skos:exactMatch ncbigene:26191 semapv:UnspecifiedMatching OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:PTPN22 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch ncbigene:26191 semapv:UnspecifiedMatching OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:NOS2P2 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch ncbigene:201288 semapv:UnspecifiedMatching OMIM:600719 NOS2B skos:exactMatch UMLS:C1417761 semapv:UnspecifiedMatching -OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch UMLS:C1417762 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch ncbigene:201288 semapv:UnspecifiedMatching OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:NOS2P1 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch UMLS:C1417762 semapv:UnspecifiedMatching OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:PPT1 semapv:UnspecifiedMatching OMIM:600722 PPT1 skos:exactMatch ncbigene:5538 semapv:UnspecifiedMatching OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:MPP2 semapv:UnspecifiedMatching @@ -10685,46 +10689,46 @@ OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:CNGB1 semapv:UnspecifiedMatching OMIM:600724 CNGB1 skos:exactMatch ncbigene:1258 semapv:UnspecifiedMatching OMIM:600725 SHH skos:exactMatch ncbigene:6469 semapv:UnspecifiedMatching OMIM:600725 SHH skos:exactMatch hgnc.symbol:SHH semapv:UnspecifiedMatching -OMIM:600726 IHH skos:exactMatch hgnc.symbol:IHH semapv:UnspecifiedMatching OMIM:600726 IHH skos:exactMatch ncbigene:3549 semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch hgnc.symbol:IHH semapv:UnspecifiedMatching OMIM:600727 NFIA skos:exactMatch hgnc.symbol:NFIA semapv:UnspecifiedMatching OMIM:600727 NFIA skos:exactMatch ncbigene:4774 semapv:UnspecifiedMatching OMIM:600728 NFIB skos:exactMatch hgnc.symbol:NFIB semapv:UnspecifiedMatching OMIM:600728 NFIB skos:exactMatch ncbigene:4781 semapv:UnspecifiedMatching OMIM:600729 NFIC skos:exactMatch hgnc.symbol:NFIC semapv:UnspecifiedMatching OMIM:600729 NFIC skos:exactMatch ncbigene:4782 semapv:UnspecifiedMatching -OMIM:600730 NPBWR1 skos:exactMatch ncbigene:2831 semapv:UnspecifiedMatching OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:NPBWR1 semapv:UnspecifiedMatching -OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:NPBWR2 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch ncbigene:2831 semapv:UnspecifiedMatching OMIM:600731 GPR8 skos:exactMatch ncbigene:2832 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:NPBWR2 semapv:UnspecifiedMatching OMIM:600732 ARL4D skos:exactMatch UMLS:C1824202 semapv:UnspecifiedMatching OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:ARL4D semapv:UnspecifiedMatching OMIM:600732 ARL4D skos:exactMatch ncbigene:379 semapv:UnspecifiedMatching OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:PDX1 semapv:UnspecifiedMatching OMIM:600733 PDX1 skos:exactMatch ncbigene:3651 semapv:UnspecifiedMatching -OMIM:600734 KCNJ5 skos:exactMatch ncbigene:3762 semapv:UnspecifiedMatching OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:KCNJ5 semapv:UnspecifiedMatching -OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:IFI35 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch ncbigene:3762 semapv:UnspecifiedMatching OMIM:600735 IFI35 skos:exactMatch ncbigene:3430 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:IFI35 semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch ncbigene:6404 semapv:UnspecifiedMatching OMIM:600738 SELPLG skos:exactMatch UMLS:C1419941 semapv:UnspecifiedMatching OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:SELPLG semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch ncbigene:6404 semapv:UnspecifiedMatching OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:SHC1P2 semapv:UnspecifiedMatching OMIM:600739 SHCL1 skos:exactMatch ncbigene:6466 semapv:UnspecifiedMatching OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:TGFBR3 semapv:UnspecifiedMatching OMIM:600742 TGFBR3 skos:exactMatch ncbigene:7049 semapv:UnspecifiedMatching -OMIM:600743 TFAP4 skos:exactMatch ncbigene:7023 semapv:UnspecifiedMatching OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:TFAP4 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch ncbigene:7942 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch UMLS:C1420699 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch ncbigene:7023 semapv:UnspecifiedMatching OMIM:600744 TFEB skos:exactMatch hgnc.symbol:TFEB semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch UMLS:C1420699 semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch ncbigene:7942 semapv:UnspecifiedMatching OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:APOC4 semapv:UnspecifiedMatching OMIM:600745 APOC4 skos:exactMatch ncbigene:346 semapv:UnspecifiedMatching OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:CDX1 semapv:UnspecifiedMatching OMIM:600746 CDX1 skos:exactMatch ncbigene:1044 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch UMLS:C1420608 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch UMLS:C4748741 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:TBX2 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch UMLS:C1420608 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch ncbigene:6909 semapv:UnspecifiedMatching OMIM:600748 TMBIM6 skos:exactMatch ncbigene:7009 semapv:UnspecifiedMatching OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:TMBIM6 semapv:UnspecifiedMatching @@ -10754,11 +10758,11 @@ OMIM:600760 SCNN1B skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:SCNN1B semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch ncbigene:6338 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:SCNN1G semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch ncbigene:6340 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:SCNN1G semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C1419871 semapv:UnspecifiedMatching OMIM:600762 human papillomavirus e5 central sequence-like 1 skos:exactMatch UMLS:C1415711 semapv:UnspecifiedMatching OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:TPT1 semapv:UnspecifiedMatching @@ -10768,17 +10772,17 @@ OMIM:600764 MR1 skos:exactMatch hgnc.symbol:MR1 semapv:UnspecifiedMatching OMIM:600764 MR1 skos:exactMatch ncbigene:3140 semapv:UnspecifiedMatching OMIM:600767 GDI2 skos:exactMatch ncbigene:2665 semapv:UnspecifiedMatching OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:GDI2 semapv:UnspecifiedMatching -OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:PTPN9 semapv:UnspecifiedMatching OMIM:600768 PTPN9 skos:exactMatch ncbigene:5780 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:PTPN9 semapv:UnspecifiedMatching OMIM:600769 TSPAN8 skos:exactMatch UMLS:C1540088 semapv:UnspecifiedMatching OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:TSPAN8 semapv:UnspecifiedMatching OMIM:600769 TSPAN8 skos:exactMatch ncbigene:7103 semapv:UnspecifiedMatching OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:MUC5B semapv:UnspecifiedMatching OMIM:600770 MUC5B skos:exactMatch ncbigene:727897 semapv:UnspecifiedMatching -OMIM:600772 TAF11 skos:exactMatch ncbigene:6882 semapv:UnspecifiedMatching OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:TAF11 semapv:UnspecifiedMatching -OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:TAF12 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch ncbigene:6882 semapv:UnspecifiedMatching OMIM:600773 TAF12 skos:exactMatch ncbigene:6883 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:TAF12 semapv:UnspecifiedMatching OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:TAF13 semapv:UnspecifiedMatching OMIM:600774 TAF13 skos:exactMatch ncbigene:6884 semapv:UnspecifiedMatching OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:TTF1 semapv:UnspecifiedMatching @@ -10787,16 +10791,16 @@ OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:CDKN1B semapv:UnspecifiedMatching OMIM:600778 CDKN1B skos:exactMatch ncbigene:1027 semapv:UnspecifiedMatching OMIM:600781 PYY skos:exactMatch hgnc.symbol:PYY semapv:UnspecifiedMatching OMIM:600781 PYY skos:exactMatch ncbigene:5697 semapv:UnspecifiedMatching -OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:SYT5 semapv:UnspecifiedMatching OMIM:600782 SYT5 skos:exactMatch ncbigene:6861 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:SYT5 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch UMLS:C1415474 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:HARS2 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch ncbigene:23438 semapv:UnspecifiedMatching OMIM:600784 GZMK skos:exactMatch hgnc.symbol:GZMK semapv:UnspecifiedMatching OMIM:600784 GZMK skos:exactMatch ncbigene:3003 semapv:UnspecifiedMatching -OMIM:600786 ELOA skos:exactMatch hgnc.symbol:ELOA semapv:UnspecifiedMatching OMIM:600786 ELOA skos:exactMatch ncbigene:6924 semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch hgnc.symbol:ELOA semapv:UnspecifiedMatching OMIM:600787 ELOB skos:exactMatch ncbigene:6923 semapv:UnspecifiedMatching OMIM:600787 ELOB skos:exactMatch hgnc.symbol:ELOB semapv:UnspecifiedMatching OMIM:600788 ELOC skos:exactMatch hgnc.symbol:ELOC semapv:UnspecifiedMatching @@ -10806,22 +10810,22 @@ OMIM:600789 RPL23L skos:exactMatch ncbigene:6150 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, iia 5a skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, iia 5a skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, iia 5a skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching -OMIM:600796 SF3A2 skos:exactMatch ncbigene:8175 semapv:UnspecifiedMatching OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:SF3A2 semapv:UnspecifiedMatching -OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:IRS2 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch ncbigene:8175 semapv:UnspecifiedMatching OMIM:600797 IRS2 skos:exactMatch ncbigene:8660 semapv:UnspecifiedMatching -OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:NECTIN2 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:IRS2 semapv:UnspecifiedMatching OMIM:600798 NECTIN2 skos:exactMatch ncbigene:5819 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:NECTIN2 semapv:UnspecifiedMatching OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:BMPR2 semapv:UnspecifiedMatching OMIM:600799 BMPR2 skos:exactMatch ncbigene:659 semapv:UnspecifiedMatching -OMIM:600800 NAB1 skos:exactMatch ncbigene:4664 semapv:UnspecifiedMatching OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:NAB1 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch ncbigene:4544 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:MTNR1B semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch ncbigene:4664 semapv:UnspecifiedMatching OMIM:600804 MTNR1B skos:exactMatch UMLS:C1442506 semapv:UnspecifiedMatching OMIM:600804 MTNR1B skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:LAMA3 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:MTNR1B semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch ncbigene:4544 semapv:UnspecifiedMatching OMIM:600805 LAMA3 skos:exactMatch ncbigene:3909 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:LAMA3 semapv:UnspecifiedMatching OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:CNN1 semapv:UnspecifiedMatching OMIM:600806 CNN1 skos:exactMatch ncbigene:1264 semapv:UnspecifiedMatching OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:PLCB4 semapv:UnspecifiedMatching @@ -10831,15 +10835,15 @@ OMIM:600811 DDB2 skos:exactMatch ncbigene:1643 semapv:UnspecifiedMatching OMIM:600812 SRSF1 skos:exactMatch ncbigene:6426 semapv:UnspecifiedMatching OMIM:600812 SRSF1 skos:exactMatch UMLS:C1419989 semapv:UnspecifiedMatching OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:SRSF1 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch ncbigene:6427 semapv:UnspecifiedMatching OMIM:600813 SRSF2 skos:exactMatch UMLS:C1419992 semapv:UnspecifiedMatching OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:SRSF2 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch ncbigene:6427 semapv:UnspecifiedMatching OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:MRE11 semapv:UnspecifiedMatching OMIM:600814 MRE11 skos:exactMatch ncbigene:4361 semapv:UnspecifiedMatching -OMIM:600815 POLD2 skos:exactMatch ncbigene:5425 semapv:UnspecifiedMatching OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:POLD2 semapv:UnspecifiedMatching -OMIM:600816 HSPA8 skos:exactMatch ncbigene:3312 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch ncbigene:5425 semapv:UnspecifiedMatching OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:HSPA8 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch ncbigene:3312 semapv:UnspecifiedMatching OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:VSNL1 semapv:UnspecifiedMatching OMIM:600817 VSNL1 skos:exactMatch ncbigene:7447 semapv:UnspecifiedMatching OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:TAGLN semapv:UnspecifiedMatching @@ -10851,59 +10855,59 @@ OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:FXR1 semapv:UnspecifiedMatching OMIM:600819 FXR1 skos:exactMatch ncbigene:8087 semapv:UnspecifiedMatching OMIM:600820 ARCN1 skos:exactMatch ncbigene:372 semapv:UnspecifiedMatching OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:ARCN1 semapv:UnspecifiedMatching -OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:AVPR1A semapv:UnspecifiedMatching OMIM:600821 AVPR1A skos:exactMatch ncbigene:552 semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:AVPR1A semapv:UnspecifiedMatching OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:TAF9 semapv:UnspecifiedMatching OMIM:600822 TAF9 skos:exactMatch ncbigene:6880 semapv:UnspecifiedMatching OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:PRSS8 semapv:UnspecifiedMatching OMIM:600823 PRSS8 skos:exactMatch ncbigene:5652 semapv:UnspecifiedMatching OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:CSRP3 semapv:UnspecifiedMatching OMIM:600824 CSRP3 skos:exactMatch ncbigene:8048 semapv:UnspecifiedMatching -OMIM:600825 RORA skos:exactMatch ncbigene:6095 semapv:UnspecifiedMatching OMIM:600825 RORA skos:exactMatch hgnc.symbol:RORA semapv:UnspecifiedMatching -OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:NCAN semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch ncbigene:6095 semapv:UnspecifiedMatching OMIM:600826 CSPG3 skos:exactMatch ncbigene:1463 semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:NCAN semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C1418427 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C2751308 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C2751309 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:PDE6C semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch ncbigene:5146 semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch UMLS:C1412671 semapv:UnspecifiedMatching OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:ATP5PO semapv:UnspecifiedMatching OMIM:600828 ATP5PO skos:exactMatch ncbigene:539 semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch UMLS:C1412671 semapv:UnspecifiedMatching -OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:INPPL1 semapv:UnspecifiedMatching OMIM:600829 INPPL1 skos:exactMatch ncbigene:3636 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:INPPL1 semapv:UnspecifiedMatching OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:TRIM26 semapv:UnspecifiedMatching OMIM:600830 TRIM26 skos:exactMatch ncbigene:7726 semapv:UnspecifiedMatching OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:DAPK1 semapv:UnspecifiedMatching OMIM:600831 DAPK1 skos:exactMatch ncbigene:1612 semapv:UnspecifiedMatching -OMIM:600832 ANP32A skos:exactMatch ncbigene:8125 semapv:UnspecifiedMatching OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:ANP32A semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch ncbigene:8125 semapv:UnspecifiedMatching OMIM:600833 ST7 skos:exactMatch ncbigene:7982 semapv:UnspecifiedMatching OMIM:600833 ST7 skos:exactMatch hgnc.symbol:ST7 semapv:UnspecifiedMatching -OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:ZNF165 semapv:UnspecifiedMatching OMIM:600834 ZNF165 skos:exactMatch ncbigene:7718 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:ZNF165 semapv:UnspecifiedMatching OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:CXCL12 semapv:UnspecifiedMatching OMIM:600835 CXCL12 skos:exactMatch ncbigene:6387 semapv:UnspecifiedMatching OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:CRYBA2 semapv:UnspecifiedMatching OMIM:600836 CRYBA2 skos:exactMatch ncbigene:1412 semapv:UnspecifiedMatching OMIM:600837 GDNF skos:exactMatch hgnc.symbol:GDNF semapv:UnspecifiedMatching OMIM:600837 GDNF skos:exactMatch ncbigene:2668 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch ncbigene:8456 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:FOXN1 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch ncbigene:8456 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394592 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394567 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C1421504 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:SLC12A1 semapv:UnspecifiedMatching OMIM:600839 SLC12A1 skos:exactMatch ncbigene:6557 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:SLC12A2 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch ncbigene:6558 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch UMLS:C1420091 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:SLC12A2 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch UMLS:C1420091 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch UMLS:C1415015 semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch UMLS:C3150714 semapv:UnspecifiedMatching @@ -10911,55 +10915,55 @@ OMIM:600842 GCKR skos:exactMatch hgnc.symbol:GCKR semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch ncbigene:2646 semapv:UnspecifiedMatching OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:P2RX3 semapv:UnspecifiedMatching OMIM:600843 P2RX3 skos:exactMatch ncbigene:5024 semapv:UnspecifiedMatching -OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:P2RX2 semapv:UnspecifiedMatching OMIM:600844 P2RX2 skos:exactMatch ncbigene:22953 semapv:UnspecifiedMatching -OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:P2RX1 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:P2RX2 semapv:UnspecifiedMatching OMIM:600845 P2RX1 skos:exactMatch ncbigene:5023 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:P2RX1 semapv:UnspecifiedMatching OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:P2RX4 semapv:UnspecifiedMatching OMIM:600846 P2RX4 skos:exactMatch ncbigene:5025 semapv:UnspecifiedMatching OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:NCOR2 semapv:UnspecifiedMatching OMIM:600848 NCOR2 skos:exactMatch ncbigene:9612 semapv:UnspecifiedMatching -OMIM:600849 NCOR1 skos:exactMatch ncbigene:9611 semapv:UnspecifiedMatching OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:NCOR1 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch ncbigene:9611 semapv:UnspecifiedMatching OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:NDST1 semapv:UnspecifiedMatching OMIM:600853 NDST1 skos:exactMatch ncbigene:3340 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch UMLS:C1414204 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch UMLS:C3279839 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:DYRK1A semapv:UnspecifiedMatching OMIM:600855 DYRK1A skos:exactMatch ncbigene:1859 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:DYRK1A semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch UMLS:C3279839 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch UMLS:C1414204 semapv:UnspecifiedMatching OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:CDKN1C semapv:UnspecifiedMatching OMIM:600856 CDKN1C skos:exactMatch ncbigene:1028 semapv:UnspecifiedMatching -OMIM:600857 SDHA skos:exactMatch ncbigene:6389 semapv:UnspecifiedMatching OMIM:600857 SDHA skos:exactMatch hgnc.symbol:SDHA semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch ncbigene:6389 semapv:UnspecifiedMatching OMIM:600858 cardiomyopathy, familial hypertrophic, 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching -OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:AIMP2 semapv:UnspecifiedMatching OMIM:600859 AIMP2 skos:exactMatch ncbigene:7965 semapv:UnspecifiedMatching -OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:GTF3A semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:AIMP2 semapv:UnspecifiedMatching OMIM:600860 GTF3A skos:exactMatch ncbigene:2971 semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:GTF3A semapv:UnspecifiedMatching OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:RGS2 semapv:UnspecifiedMatching OMIM:600861 RGS2 skos:exactMatch ncbigene:5997 semapv:UnspecifiedMatching -OMIM:600862 AGFG1 skos:exactMatch ncbigene:3267 semapv:UnspecifiedMatching OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:AGFG1 semapv:UnspecifiedMatching -OMIM:600863 CSNK1E skos:exactMatch ncbigene:1454 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch ncbigene:3267 semapv:UnspecifiedMatching OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:CSNK1E semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch ncbigene:1454 semapv:UnspecifiedMatching OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:CSNK1D semapv:UnspecifiedMatching OMIM:600864 CSNK1D skos:exactMatch ncbigene:1453 semapv:UnspecifiedMatching -OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:RTN1 semapv:UnspecifiedMatching OMIM:600865 RTN1 skos:exactMatch ncbigene:6252 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:RTN1 semapv:UnspecifiedMatching OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:PDCD2 semapv:UnspecifiedMatching OMIM:600866 PDCD2 skos:exactMatch ncbigene:5134 semapv:UnspecifiedMatching OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:SSR2 semapv:UnspecifiedMatching OMIM:600867 SSR2 skos:exactMatch ncbigene:6746 semapv:UnspecifiedMatching OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:SSR1 semapv:UnspecifiedMatching OMIM:600868 SSR1 skos:exactMatch ncbigene:6745 semapv:UnspecifiedMatching -OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:GRK6 semapv:UnspecifiedMatching OMIM:600869 GRK6 skos:exactMatch ncbigene:2870 semapv:UnspecifiedMatching -OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:GRK5 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:GRK6 semapv:UnspecifiedMatching OMIM:600870 GRK5 skos:exactMatch ncbigene:2869 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:GFI1 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:GRK5 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch UMLS:C1415044 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:GFI1 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch ncbigene:2672 semapv:UnspecifiedMatching OMIM:600873 CTBS skos:exactMatch hgnc.symbol:CTBS semapv:UnspecifiedMatching OMIM:600873 CTBS skos:exactMatch ncbigene:1486 semapv:UnspecifiedMatching @@ -10971,19 +10975,19 @@ OMIM:600876 STX3 skos:exactMatch hgnc.symbol:STX3 semapv:UnspecifiedMatching OMIM:600876 STX3 skos:exactMatch ncbigene:6809 semapv:UnspecifiedMatching OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:KCNJ6 semapv:UnspecifiedMatching OMIM:600877 KCNJ6 skos:exactMatch ncbigene:3763 semapv:UnspecifiedMatching -OMIM:600879 NRF1 skos:exactMatch ncbigene:4899 semapv:UnspecifiedMatching OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:NRF1 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch ncbigene:4899 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching OMIM:600881 cataract 10, multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching OMIM:600883 iia 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:MSH3 semapv:UnspecifiedMatching OMIM:600887 MSH3 skos:exactMatch ncbigene:4437 semapv:UnspecifiedMatching -OMIM:600888 ARHGEF5 skos:exactMatch ncbigene:7984 semapv:UnspecifiedMatching OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:ARHGEF5 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch ncbigene:7984 semapv:UnspecifiedMatching OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:CFHR2 semapv:UnspecifiedMatching OMIM:600889 CFHR2 skos:exactMatch ncbigene:3080 semapv:UnspecifiedMatching OMIM:600890 HADHA skos:exactMatch hgnc.symbol:HADHA semapv:UnspecifiedMatching @@ -10991,32 +10995,32 @@ OMIM:600890 HADHA skos:exactMatch ncbigene:3030 semapv:UnspecifiedMatching OMIM:600892 SIM2 skos:exactMatch UMLS:C1420068 semapv:UnspecifiedMatching OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:SIM2 semapv:UnspecifiedMatching OMIM:600892 SIM2 skos:exactMatch ncbigene:6493 semapv:UnspecifiedMatching -OMIM:600895 PRLHR skos:exactMatch ncbigene:2834 semapv:UnspecifiedMatching OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:PRLHR semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch ncbigene:2834 semapv:UnspecifiedMatching OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:UTS2R semapv:UnspecifiedMatching OMIM:600896 GPR14 skos:exactMatch ncbigene:2837 semapv:UnspecifiedMatching -OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:GJA8 semapv:UnspecifiedMatching OMIM:600897 GJA8 skos:exactMatch ncbigene:2703 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:GJA8 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch UMLS:C1420318 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:SOX11 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch ncbigene:6664 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch ncbigene:5591 semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:PRKDC semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch UMLS:C4016699 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch UMLS:C4016698 semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch UMLS:C1335262 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch UMLS:C4016698 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch UMLS:C4016699 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch ncbigene:5591 semapv:UnspecifiedMatching OMIM:600900 SGCB skos:exactMatch hgnc.symbol:SGCB semapv:UnspecifiedMatching OMIM:600900 SGCB skos:exactMatch ncbigene:6443 semapv:UnspecifiedMatching OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:SEPHS1 semapv:UnspecifiedMatching OMIM:600902 SEPHS1 skos:exactMatch ncbigene:22929 semapv:UnspecifiedMatching OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:ASTN1 semapv:UnspecifiedMatching OMIM:600904 ASTN1 skos:exactMatch ncbigene:460 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch ncbigene:4047 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch hgnc.symbol:LSS semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch UMLS:C1416926 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch ncbigene:4047 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C4225300 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch UMLS:C1416926 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:INSL4 semapv:UnspecifiedMatching OMIM:600910 INSL4 skos:exactMatch ncbigene:3641 semapv:UnspecifiedMatching @@ -11032,19 +11036,19 @@ OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:INPP4A semapv:UnspecifiedMatching OMIM:600916 INPP4A skos:exactMatch ncbigene:3631 semapv:UnspecifiedMatching OMIM:600917 PPP1R3A skos:exactMatch ncbigene:5506 semapv:UnspecifiedMatching OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:PPP1R3A semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch ncbigene:2254 semapv:UnspecifiedMatching OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:FGF9 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch ncbigene:2254 semapv:UnspecifiedMatching OMIM:600921 FGF9 skos:exactMatch UMLS:C1333540 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch hgnc.symbol:MYLK semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C1334539 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C1608393 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch hgnc.symbol:MYLK semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch ncbigene:4638 semapv:UnspecifiedMatching -OMIM:600923 PPOX skos:exactMatch ncbigene:5498 semapv:UnspecifiedMatching OMIM:600923 PPOX skos:exactMatch hgnc.symbol:PPOX semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch hgnc.symbol:GFER semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch ncbigene:5498 semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch ncbigene:2671 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch hgnc.symbol:GFER semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch UMLS:C1415043 semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching OMIM:600925 PTPRJ skos:exactMatch UMLS:C1335288 semapv:UnspecifiedMatching @@ -11055,10 +11059,10 @@ OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:PTPRE semapv:UnspecifiedMatching OMIM:600926 PTPRE skos:exactMatch ncbigene:5791 semapv:UnspecifiedMatching OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:CDKN2D semapv:UnspecifiedMatching OMIM:600927 CDKN2D skos:exactMatch ncbigene:1032 semapv:UnspecifiedMatching -OMIM:600928 NPRL3 skos:exactMatch ncbigene:8131 semapv:UnspecifiedMatching OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:NPRL3 semapv:UnspecifiedMatching -OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:CRYBB1 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch ncbigene:8131 semapv:UnspecifiedMatching OMIM:600929 CRYBB1 skos:exactMatch ncbigene:1414 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:CRYBB1 semapv:UnspecifiedMatching OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:SPAM1 semapv:UnspecifiedMatching OMIM:600930 SPAM1 skos:exactMatch ncbigene:6677 semapv:UnspecifiedMatching OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:KCNJ9 semapv:UnspecifiedMatching @@ -11071,11 +11075,11 @@ OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:KCNJ8 semapv:UnspecifiedMatching OMIM:600935 KCNJ8 skos:exactMatch ncbigene:3764 semapv:UnspecifiedMatching OMIM:600936 HMMR skos:exactMatch hgnc.symbol:HMMR semapv:UnspecifiedMatching OMIM:600936 HMMR skos:exactMatch ncbigene:3161 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch ncbigene:3767 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:KCNJ11 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394568 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C4225365 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394568 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3152078 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching @@ -11099,11 +11103,11 @@ OMIM:600946 GHR skos:exactMatch ncbigene:2690 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch hgnc.symbol:GHR semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C4016707 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C4016706 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C3888131 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C1858656 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C3888131 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C4016705 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C1415063 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C4016705 semapv:UnspecifiedMatching OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:HAP1 semapv:UnspecifiedMatching OMIM:600947 HAP1 skos:exactMatch ncbigene:9001 semapv:UnspecifiedMatching OMIM:600948 MOBP skos:exactMatch hgnc.symbol:MOBP semapv:UnspecifiedMatching @@ -11117,26 +11121,26 @@ OMIM:600953 IL18 skos:exactMatch hgnc.symbol:IL18 semapv:UnspecifiedMatching OMIM:600953 IL18 skos:exactMatch ncbigene:3606 semapv:UnspecifiedMatching OMIM:600954 DAP skos:exactMatch hgnc.symbol:DAP semapv:UnspecifiedMatching OMIM:600954 DAP skos:exactMatch ncbigene:1611 semapv:UnspecifiedMatching -OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:AMHR2 semapv:UnspecifiedMatching OMIM:600956 AMHR2 skos:exactMatch ncbigene:269 semapv:UnspecifiedMatching -OMIM:600957 AMH skos:exactMatch ncbigene:268 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:AMHR2 semapv:UnspecifiedMatching OMIM:600957 AMH skos:exactMatch hgnc.symbol:AMH semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch ncbigene:268 semapv:UnspecifiedMatching OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:MYBPC3 semapv:UnspecifiedMatching OMIM:600958 MYBPC3 skos:exactMatch ncbigene:4607 semapv:UnspecifiedMatching OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:COPB1 semapv:UnspecifiedMatching OMIM:600959 COPB1 skos:exactMatch ncbigene:1315 semapv:UnspecifiedMatching -OMIM:600960 SET skos:exactMatch hgnc.symbol:SET semapv:UnspecifiedMatching OMIM:600960 SET skos:exactMatch ncbigene:6418 semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch hgnc.symbol:SET semapv:UnspecifiedMatching OMIM:600963 SIX5 skos:exactMatch ncbigene:147912 semapv:UnspecifiedMatching OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:SIX5 semapv:UnspecifiedMatching -OMIM:600966 LLGL1 skos:exactMatch ncbigene:3996 semapv:UnspecifiedMatching OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:LLGL1 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch ncbigene:3996 semapv:UnspecifiedMatching OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:E2F5 semapv:UnspecifiedMatching OMIM:600967 E2F5 skos:exactMatch ncbigene:1875 semapv:UnspecifiedMatching OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:SLC12A3 semapv:UnspecifiedMatching OMIM:600968 SLC12A3 skos:exactMatch ncbigene:6559 semapv:UnspecifiedMatching -OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:MYO6 semapv:UnspecifiedMatching OMIM:600970 MYO6 skos:exactMatch ncbigene:4646 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:MYO6 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch ncbigene:2195 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:FAT1 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch UMLS:C0812278 semapv:UnspecifiedMatching @@ -11159,16 +11163,16 @@ OMIM:600985 TNXB skos:exactMatch hgnc.symbol:TNXB semapv:UnspecifiedMatching OMIM:600985 TNXB skos:exactMatch ncbigene:7148 semapv:UnspecifiedMatching OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:TRIM46 semapv:UnspecifiedMatching OMIM:600986 TRIM46 skos:exactMatch ncbigene:80128 semapv:UnspecifiedMatching -OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:MAN2A2 semapv:UnspecifiedMatching OMIM:600988 MAN2A2 skos:exactMatch ncbigene:4122 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:SMAD4 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch ncbigene:4089 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C0694891 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:MAN2A2 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C0345893 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C0694891 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832940 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:SMAD4 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch ncbigene:4089 semapv:UnspecifiedMatching OMIM:600997 EPHB2 skos:exactMatch ncbigene:2048 semapv:UnspecifiedMatching OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:EPHB2 semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch UMLS:C1333685 semapv:UnspecifiedMatching @@ -11178,8 +11182,8 @@ OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:GNAQ semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch ncbigene:2776 semapv:UnspecifiedMatching OMIM:600999 MAZ skos:exactMatch hgnc.symbol:MAZ semapv:UnspecifiedMatching OMIM:600999 MAZ skos:exactMatch ncbigene:4150 semapv:UnspecifiedMatching -OMIM:601002 GSS skos:exactMatch hgnc.symbol:GSS semapv:UnspecifiedMatching OMIM:601002 GSS skos:exactMatch ncbigene:2937 semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch hgnc.symbol:GSS semapv:UnspecifiedMatching OMIM:601007 LEPR skos:exactMatch ncbigene:3953 semapv:UnspecifiedMatching OMIM:601007 LEPR skos:exactMatch hgnc.symbol:LEPR semapv:UnspecifiedMatching OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:TJP1 semapv:UnspecifiedMatching @@ -11187,29 +11191,29 @@ OMIM:601009 TJP1 skos:exactMatch ncbigene:7082 semapv:UnspecifiedMatching OMIM:601010 TCF15 skos:exactMatch UMLS:C1420633 semapv:UnspecifiedMatching OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:TCF15 semapv:UnspecifiedMatching OMIM:601010 TCF15 skos:exactMatch ncbigene:6939 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C4016713 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch ncbigene:773 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:CACNA1A semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C4016713 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832903 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1456413 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832885 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C1413056 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:CACNA1B semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch ncbigene:774 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C1413056 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch UMLS:C1413059 semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:CACNA1E semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch ncbigene:777 semapv:UnspecifiedMatching -OMIM:601014 DLG1 skos:exactMatch ncbigene:1739 semapv:UnspecifiedMatching OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:DLG1 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:NPC2 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch ncbigene:1739 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch ncbigene:10577 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:NPC2 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch UMLS:C1422736 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:SNTA1 semapv:UnspecifiedMatching @@ -11218,17 +11222,17 @@ OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:SLC6A9 semapv:UnspecifiedMatching OMIM:601019 SLC6A9 skos:exactMatch ncbigene:6536 semapv:UnspecifiedMatching OMIM:601020 CD86 skos:exactMatch hgnc.symbol:CD86 semapv:UnspecifiedMatching OMIM:601020 CD86 skos:exactMatch ncbigene:942 semapv:UnspecifiedMatching -OMIM:601021 NUP98 skos:exactMatch ncbigene:4928 semapv:UnspecifiedMatching OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:NUP98 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch ncbigene:4928 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch ncbigene:4795 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:NFKBIL1 semapv:UnspecifiedMatching OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1417711 semapv:UnspecifiedMatching OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:NFKBIL1 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch ncbigene:4795 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch ncbigene:7415 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch hgnc.symbol:VCP semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436953 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436951 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436952 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436951 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch hgnc.symbol:VCP semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C4225244 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C1421437 semapv:UnspecifiedMatching @@ -11237,12 +11241,12 @@ OMIM:601024 AP2M1 skos:exactMatch UMLS:C1412444 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:AP2M1 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch ncbigene:1173 semapv:UnspecifiedMatching -OMIM:601025 AP2B1 skos:exactMatch ncbigene:163 semapv:UnspecifiedMatching OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:AP2B1 semapv:UnspecifiedMatching -OMIM:601026 AP2A1 skos:exactMatch ncbigene:160 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch ncbigene:163 semapv:UnspecifiedMatching OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:AP2A1 semapv:UnspecifiedMatching -OMIM:601028 CD47 skos:exactMatch hgnc.symbol:CD47 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch ncbigene:160 semapv:UnspecifiedMatching OMIM:601028 CD47 skos:exactMatch ncbigene:961 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch hgnc.symbol:CD47 semapv:UnspecifiedMatching OMIM:601029 MEST skos:exactMatch UMLS:C1417122 semapv:UnspecifiedMatching OMIM:601029 MEST skos:exactMatch hgnc.symbol:MEST semapv:UnspecifiedMatching OMIM:601029 MEST skos:exactMatch ncbigene:4232 semapv:UnspecifiedMatching @@ -11250,10 +11254,10 @@ OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:RNASE4 semapv:UnspecifiedMatching OMIM:601030 RNASE4 skos:exactMatch ncbigene:6038 semapv:UnspecifiedMatching OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:RHPN1 semapv:UnspecifiedMatching OMIM:601031 RHPN1 skos:exactMatch ncbigene:114822 semapv:UnspecifiedMatching -OMIM:601032 PKN1 skos:exactMatch ncbigene:5585 semapv:UnspecifiedMatching OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:PKN1 semapv:UnspecifiedMatching -OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:LAMA5 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch ncbigene:5585 semapv:UnspecifiedMatching OMIM:601033 LAMA5 skos:exactMatch ncbigene:3911 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:LAMA5 semapv:UnspecifiedMatching OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:HNRNPH1 semapv:UnspecifiedMatching OMIM:601035 HNRNPH1 skos:exactMatch ncbigene:3187 semapv:UnspecifiedMatching OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:HNRNPF semapv:UnspecifiedMatching @@ -11262,29 +11266,29 @@ OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:DIO3 semapv:UnspecifiedMatching OMIM:601038 DIO3 skos:exactMatch ncbigene:1735 semapv:UnspecifiedMatching OMIM:601040 SCARB1 skos:exactMatch ncbigene:949 semapv:UnspecifiedMatching OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:SCARB1 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch ncbigene:7089 semapv:UnspecifiedMatching OMIM:601041 TLE2 skos:exactMatch UMLS:C1420753 semapv:UnspecifiedMatching OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:TLE2 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch ncbigene:7089 semapv:UnspecifiedMatching OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:CTNND1 semapv:UnspecifiedMatching OMIM:601045 CTNND1 skos:exactMatch ncbigene:1500 semapv:UnspecifiedMatching OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:MMP12 semapv:UnspecifiedMatching OMIM:601046 MMP12 skos:exactMatch ncbigene:4321 semapv:UnspecifiedMatching OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:CAV1 semapv:UnspecifiedMatching OMIM:601047 CAV1 skos:exactMatch ncbigene:857 semapv:UnspecifiedMatching -OMIM:601048 CAV2 skos:exactMatch ncbigene:858 semapv:UnspecifiedMatching OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:CAV2 semapv:UnspecifiedMatching -OMIM:601051 MSLN skos:exactMatch hgnc.symbol:MSLN semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch ncbigene:858 semapv:UnspecifiedMatching OMIM:601051 MSLN skos:exactMatch ncbigene:10232 semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch hgnc.symbol:MSLN semapv:UnspecifiedMatching OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:PIN1 semapv:UnspecifiedMatching OMIM:601052 PIN1 skos:exactMatch ncbigene:5300 semapv:UnspecifiedMatching OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:PLXNB1 semapv:UnspecifiedMatching OMIM:601053 PLXNB1 skos:exactMatch ncbigene:5364 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch UMLS:C1418661 semapv:UnspecifiedMatching OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:PLXNA2 semapv:UnspecifiedMatching OMIM:601054 PLXNA2 skos:exactMatch ncbigene:5362 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch UMLS:C1418661 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch ncbigene:5361 semapv:UnspecifiedMatching OMIM:601055 PLXNA1 skos:exactMatch UMLS:C1418660 semapv:UnspecifiedMatching OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:PLXNA1 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch ncbigene:5361 semapv:UnspecifiedMatching OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:BCL2A1 semapv:UnspecifiedMatching OMIM:601056 BCL2A1 skos:exactMatch ncbigene:597 semapv:UnspecifiedMatching OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:PDCD6 semapv:UnspecifiedMatching @@ -11295,18 +11299,18 @@ OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:ENPP2 semapv:UnspecifiedMatching OMIM:601060 ENPP2 skos:exactMatch ncbigene:5168 semapv:UnspecifiedMatching OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:SNRPD2 semapv:UnspecifiedMatching OMIM:601061 SNRPD2 skos:exactMatch ncbigene:6633 semapv:UnspecifiedMatching -OMIM:601062 SNRPD3 skos:exactMatch ncbigene:6634 semapv:UnspecifiedMatching OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:SNRPD3 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch ncbigene:6634 semapv:UnspecifiedMatching OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:SNRPD1 semapv:UnspecifiedMatching OMIM:601063 SNRPD1 skos:exactMatch ncbigene:6632 semapv:UnspecifiedMatching OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:ZFP36L1 semapv:UnspecifiedMatching OMIM:601064 ZFP36L1 skos:exactMatch ncbigene:677 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch ncbigene:16 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:AARS1 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch ncbigene:16 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C1412054 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C1412054 semapv:UnspecifiedMatching OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:OXA1L semapv:UnspecifiedMatching OMIM:601066 OXA1L skos:exactMatch ncbigene:5018 semapv:UnspecifiedMatching OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:ZNF239 semapv:UnspecifiedMatching @@ -11324,8 +11328,8 @@ OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:U2AF1L4 semapv:UnspecifiedMatchi OMIM:601080 U2AF1L4 skos:exactMatch ncbigene:199746 semapv:UnspecifiedMatching OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:ABCD2 semapv:UnspecifiedMatching OMIM:601081 ABCD2 skos:exactMatch ncbigene:225 semapv:UnspecifiedMatching -OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching OMIM:601082 UBE2H skos:exactMatch ncbigene:7328 semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching OMIM:601089 FOXF1 skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching @@ -11334,26 +11338,26 @@ OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:FOXF1 semapv:UnspecifiedMatching OMIM:601089 FOXF1 skos:exactMatch ncbigene:2294 semapv:UnspecifiedMatching OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:FOXC1 semapv:UnspecifiedMatching OMIM:601090 FOXC1 skos:exactMatch ncbigene:2296 semapv:UnspecifiedMatching -OMIM:601091 FOXD1 skos:exactMatch ncbigene:2297 semapv:UnspecifiedMatching OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:FOXD1 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch ncbigene:2297 semapv:UnspecifiedMatching OMIM:601092 FOXD4 skos:exactMatch ncbigene:2298 semapv:UnspecifiedMatching OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:FOXD4 semapv:UnspecifiedMatching OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:FOXI1 semapv:UnspecifiedMatching OMIM:601093 FOXI1 skos:exactMatch ncbigene:2299 semapv:UnspecifiedMatching OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:FOXE3 semapv:UnspecifiedMatching OMIM:601094 FOXE3 skos:exactMatch ncbigene:2301 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C4016264 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch ncbigene:5376 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:PMP22 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C4016717 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C4016716 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C4016264 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C1832783 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C2677379 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C1418677 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C0393814 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C2677379 semapv:UnspecifiedMatching OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching OMIM:601099 SLA skos:exactMatch ncbigene:6503 semapv:UnspecifiedMatching @@ -11372,13 +11376,13 @@ OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:HTR6 semapv:UnspecifiedMatching OMIM:601109 HTR6 skos:exactMatch ncbigene:3362 semapv:UnspecifiedMatching OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:TXNRD1 semapv:UnspecifiedMatching OMIM:601112 TXNRD1 skos:exactMatch ncbigene:7296 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:HSPA4 semapv:UnspecifiedMatching OMIM:601113 HSPA4 skos:exactMatch UMLS:C1415760 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:HSPA4 semapv:UnspecifiedMatching OMIM:601113 HSPA4 skos:exactMatch ncbigene:3308 semapv:UnspecifiedMatching OMIM:601114 MPP3 skos:exactMatch ncbigene:4356 semapv:UnspecifiedMatching OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:MPP3 semapv:UnspecifiedMatching -OMIM:601115 GRM3 skos:exactMatch ncbigene:2913 semapv:UnspecifiedMatching OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:GRM3 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch ncbigene:2913 semapv:UnspecifiedMatching OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:GRM8 semapv:UnspecifiedMatching OMIM:601116 GRM8 skos:exactMatch ncbigene:2918 semapv:UnspecifiedMatching OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:THOP1 semapv:UnspecifiedMatching @@ -11397,8 +11401,8 @@ OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:ST8SIA1 semapv:UnspecifiedMatchi OMIM:601123 ST8SIA1 skos:exactMatch ncbigene:6489 semapv:UnspecifiedMatching OMIM:601124 SEMA3F skos:exactMatch ncbigene:6405 semapv:UnspecifiedMatching OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:SEMA3F semapv:UnspecifiedMatching -OMIM:601125 HK2 skos:exactMatch ncbigene:3099 semapv:UnspecifiedMatching OMIM:601125 HK2 skos:exactMatch hgnc.symbol:HK2 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch ncbigene:3099 semapv:UnspecifiedMatching OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:TMF1 semapv:UnspecifiedMatching OMIM:601126 TMF1 skos:exactMatch ncbigene:7110 semapv:UnspecifiedMatching OMIM:601128 H3F3A skos:exactMatch UMLS:C1415427 semapv:UnspecifiedMatching @@ -11414,8 +11418,8 @@ OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:CYP2C9 semapv:UnspecifiedMatching OMIM:601130 CYP2C9 skos:exactMatch ncbigene:1559 semapv:UnspecifiedMatching OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:CYP2C18 semapv:UnspecifiedMatching OMIM:601131 CYP2C18 skos:exactMatch ncbigene:1562 semapv:UnspecifiedMatching -OMIM:601132 KSR1 skos:exactMatch ncbigene:8844 semapv:UnspecifiedMatching OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:KSR1 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch ncbigene:8844 semapv:UnspecifiedMatching OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:CYP2G1P semapv:UnspecifiedMatching OMIM:601133 CYP2G1P skos:exactMatch ncbigene:22952 semapv:UnspecifiedMatching OMIM:601133 CYP2G1P skos:exactMatch UMLS:C1413879 semapv:UnspecifiedMatching @@ -11426,42 +11430,42 @@ OMIM:601134 STT3A skos:exactMatch ncbigene:3703 semapv:UnspecifiedMatching OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:GBX2 semapv:UnspecifiedMatching OMIM:601135 GBX2 skos:exactMatch ncbigene:2637 semapv:UnspecifiedMatching OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:GUCY2EP semapv:UnspecifiedMatching -OMIM:601139 ZNF175 skos:exactMatch ncbigene:7728 semapv:UnspecifiedMatching OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:ZNF175 semapv:UnspecifiedMatching -OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:PPP1R14B semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch ncbigene:7728 semapv:UnspecifiedMatching OMIM:601140 PPP1R14B skos:exactMatch ncbigene:26472 semapv:UnspecifiedMatching -OMIM:601141 KCNAB1 skos:exactMatch ncbigene:7881 semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:PPP1R14B semapv:UnspecifiedMatching OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:KCNAB1 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch ncbigene:7881 semapv:UnspecifiedMatching OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:KCNAB2 semapv:UnspecifiedMatching OMIM:601142 KCNAB2 skos:exactMatch ncbigene:8514 semapv:UnspecifiedMatching OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:DCTN1 semapv:UnspecifiedMatching OMIM:601143 DCTN1 skos:exactMatch ncbigene:1639 semapv:UnspecifiedMatching -OMIM:601145 CSTB skos:exactMatch ncbigene:1476 semapv:UnspecifiedMatching OMIM:601145 CSTB skos:exactMatch hgnc.symbol:CSTB semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch ncbigene:1476 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:GDF5 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch ncbigene:8200 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C2930970 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1832702 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1333666 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:GDF6 semapv:UnspecifiedMatching OMIM:601147 GDF6 skos:exactMatch ncbigene:392255 semapv:UnspecifiedMatching -OMIM:601148 SMCP skos:exactMatch ncbigene:4184 semapv:UnspecifiedMatching OMIM:601148 SMCP skos:exactMatch hgnc.symbol:SMCP semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:IDH3A semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch ncbigene:4184 semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch ncbigene:3419 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:IDH3A semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch UMLS:C1415878 semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch ncbigene:1663 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:DDX11 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching OMIM:601150 DDX11 skos:exactMatch UMLS:C1413953 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:DDX11 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch ncbigene:1663 semapv:UnspecifiedMatching OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch UMLS:C1413954 semapv:UnspecifiedMatching OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:DDX12P semapv:UnspecifiedMatching OMIM:601153 FHIT skos:exactMatch hgnc.symbol:FHIT semapv:UnspecifiedMatching @@ -11470,28 +11474,28 @@ OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:ARHGAP45 semapv:UnspecifiedMatchin OMIM:601155 HMHA1 skos:exactMatch ncbigene:23526 semapv:UnspecifiedMatching OMIM:601156 CCL11 skos:exactMatch ncbigene:6356 semapv:UnspecifiedMatching OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:CCL11 semapv:UnspecifiedMatching -OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:DEFA4 semapv:UnspecifiedMatching OMIM:601157 DEFA4 skos:exactMatch ncbigene:1669 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:DEFA4 semapv:UnspecifiedMatching OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:MAPK8 semapv:UnspecifiedMatching OMIM:601158 MAPK8 skos:exactMatch ncbigene:5599 semapv:UnspecifiedMatching OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:CCR1 semapv:UnspecifiedMatching OMIM:601159 CCR1 skos:exactMatch ncbigene:1230 semapv:UnspecifiedMatching OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:GPR15 semapv:UnspecifiedMatching OMIM:601166 GPR15 skos:exactMatch ncbigene:2838 semapv:UnspecifiedMatching -OMIM:601167 P2RY1 skos:exactMatch ncbigene:5028 semapv:UnspecifiedMatching OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:P2RY1 semapv:UnspecifiedMatching -OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:DPYSL3 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch ncbigene:5028 semapv:UnspecifiedMatching OMIM:601168 DPYSL3 skos:exactMatch ncbigene:1809 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:DPYSL3 semapv:UnspecifiedMatching OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:CSPG4 semapv:UnspecifiedMatching OMIM:601172 CSPG4 skos:exactMatch ncbigene:1464 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch UMLS:C1412537 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:ARL2 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch ncbigene:402 semapv:UnspecifiedMatching -OMIM:601176 GCLM skos:exactMatch ncbigene:2730 semapv:UnspecifiedMatching OMIM:601176 GCLM skos:exactMatch hgnc.symbol:GCLM semapv:UnspecifiedMatching -OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:ARF4 semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch ncbigene:2730 semapv:UnspecifiedMatching OMIM:601177 ARF4 skos:exactMatch ncbigene:378 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:ARF4 semapv:UnspecifiedMatching OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:CAPRIN1 semapv:UnspecifiedMatching OMIM:601178 CAPRIN1 skos:exactMatch ncbigene:4076 semapv:UnspecifiedMatching OMIM:601179 RAN skos:exactMatch hgnc.symbol:RAN semapv:UnspecifiedMatching @@ -11512,40 +11516,40 @@ OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:POLR2L semapv:UnspecifiedMatching OMIM:601189 POLR2L skos:exactMatch ncbigene:5441 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch ncbigene:5149 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:PDE6H semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch UMLS:C1418430 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch UMLS:C3552227 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch UMLS:C1418430 semapv:UnspecifiedMatching OMIM:601191 ERH skos:exactMatch UMLS:C1414443 semapv:UnspecifiedMatching OMIM:601191 ERH skos:exactMatch hgnc.symbol:ERH semapv:UnspecifiedMatching OMIM:601191 ERH skos:exactMatch ncbigene:2079 semapv:UnspecifiedMatching -OMIM:601192 PLA2G5 skos:exactMatch ncbigene:5322 semapv:UnspecifiedMatching OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:PLA2G5 semapv:UnspecifiedMatching -OMIM:601193 CRISP1 skos:exactMatch ncbigene:167 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch ncbigene:5322 semapv:UnspecifiedMatching OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:CRISP1 semapv:UnspecifiedMatching -OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:TLR1 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch ncbigene:167 semapv:UnspecifiedMatching OMIM:601194 TLR1 skos:exactMatch ncbigene:7096 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:TLR1 semapv:UnspecifiedMatching OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:PRDM2 semapv:UnspecifiedMatching OMIM:601196 PRDM2 skos:exactMatch ncbigene:7799 semapv:UnspecifiedMatching OMIM:601197 TUB skos:exactMatch hgnc.symbol:TUB semapv:UnspecifiedMatching OMIM:601197 TUB skos:exactMatch ncbigene:7275 semapv:UnspecifiedMatching OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C3715128 semapv:UnspecifiedMatching -OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching OMIM:601199 CASR skos:exactMatch ncbigene:846 semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching OMIM:601201 methylation modifier for class 1 hla skos:exactMatch ncbigene:7795 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:IL1RL1 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch ncbigene:9173 semapv:UnspecifiedMatching OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:PTGFRN semapv:UnspecifiedMatching OMIM:601204 PTGFRN skos:exactMatch ncbigene:5738 semapv:UnspecifiedMatching -OMIM:601205 SIX1 skos:exactMatch ncbigene:6495 semapv:UnspecifiedMatching OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:SIX1 semapv:UnspecifiedMatching -OMIM:601206 POU2AF1 skos:exactMatch ncbigene:5450 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch ncbigene:6495 semapv:UnspecifiedMatching OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:POU2AF1 semapv:UnspecifiedMatching -OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch ncbigene:5450 semapv:UnspecifiedMatching OMIM:601207 DGKQ skos:exactMatch ncbigene:1609 semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching OMIM:601208 iia 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:PCBP1 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch ncbigene:5093 semapv:UnspecifiedMatching @@ -11564,23 +11568,23 @@ OMIM:601215 ATR skos:exactMatch hgnc.symbol:ATR semapv:UnspecifiedMatching OMIM:601215 ATR skos:exactMatch ncbigene:545 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch ncbigene:104 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:ADARB1 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch UMLS:C1412216 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch UMLS:C1412216 semapv:UnspecifiedMatching OMIM:601224 potocki-shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching OMIM:601224 potocki-shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:DVL1P1 semapv:UnspecifiedMatching OMIM:601225 DVL1L1 skos:exactMatch ncbigene:8215 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch hgnc.symbol:MTOR semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch UMLS:C1414805 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch ncbigene:2475 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch UMLS:C1414805 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:PIK3CG semapv:UnspecifiedMatching OMIM:601232 PIK3CG skos:exactMatch ncbigene:5294 semapv:UnspecifiedMatching OMIM:601233 INHBC skos:exactMatch hgnc.symbol:INHBC semapv:UnspecifiedMatching OMIM:601233 INHBC skos:exactMatch ncbigene:3626 semapv:UnspecifiedMatching -OMIM:601234 NACA skos:exactMatch ncbigene:4666 semapv:UnspecifiedMatching OMIM:601234 NACA skos:exactMatch hgnc.symbol:NACA semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch ncbigene:4666 semapv:UnspecifiedMatching OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:DDX10 semapv:UnspecifiedMatching OMIM:601235 DDX10 skos:exactMatch ncbigene:1662 semapv:UnspecifiedMatching OMIM:601235 DDX10 skos:exactMatch UMLS:C1413952 semapv:UnspecifiedMatching @@ -11590,22 +11594,22 @@ OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:RNF112 semapv:UnspecifiedMatching OMIM:601237 RNF112 skos:exactMatch ncbigene:7732 semapv:UnspecifiedMatching OMIM:601239 DTNA skos:exactMatch hgnc.symbol:DTNA semapv:UnspecifiedMatching OMIM:601239 DTNA skos:exactMatch ncbigene:1837 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch ncbigene:2593 semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch hgnc.symbol:GAMT semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch UMLS:C1414963 semapv:UnspecifiedMatching -OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:HDAC1 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch ncbigene:2593 semapv:UnspecifiedMatching OMIM:601241 HDAC1 skos:exactMatch ncbigene:3065 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:HDAC1 semapv:UnspecifiedMatching OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:MAP1LC3A semapv:UnspecifiedMatching OMIM:601242 MAP1LC3A skos:exactMatch ncbigene:84557 semapv:UnspecifiedMatching OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:TOP3A semapv:UnspecifiedMatching OMIM:601243 TOP3A skos:exactMatch ncbigene:7156 semapv:UnspecifiedMatching OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:GUCY1A2 semapv:UnspecifiedMatching OMIM:601244 GUCY1A2 skos:exactMatch ncbigene:2977 semapv:UnspecifiedMatching -OMIM:601245 CHAF1B skos:exactMatch ncbigene:8208 semapv:UnspecifiedMatching OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:CHAF1B semapv:UnspecifiedMatching -OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:CHAF1A semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch ncbigene:8208 semapv:UnspecifiedMatching OMIM:601246 CHAF1A skos:exactMatch ncbigene:10036 semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:CHAF1A semapv:UnspecifiedMatching OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:SOS2 semapv:UnspecifiedMatching OMIM:601247 SOS2 skos:exactMatch ncbigene:6655 semapv:UnspecifiedMatching OMIM:601248 BIN1 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching @@ -11614,51 +11618,51 @@ OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:BIN1 semapv:UnspecifiedMatching OMIM:601248 BIN1 skos:exactMatch ncbigene:274 semapv:UnspecifiedMatching OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:PRPSAP1 semapv:UnspecifiedMatching OMIM:601249 PRPSAP1 skos:exactMatch ncbigene:5635 semapv:UnspecifiedMatching -OMIM:601250 MSRA skos:exactMatch hgnc.symbol:MSRA semapv:UnspecifiedMatching OMIM:601250 MSRA skos:exactMatch ncbigene:4482 semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch hgnc.symbol:MSRA semapv:UnspecifiedMatching OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:FCN1 semapv:UnspecifiedMatching OMIM:601252 FCN1 skos:exactMatch ncbigene:2219 semapv:UnspecifiedMatching OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:CAV3 semapv:UnspecifiedMatching OMIM:601253 CAV3 skos:exactMatch ncbigene:859 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:MAP2K6 semapv:UnspecifiedMatching OMIM:601254 MAP2K6 skos:exactMatch UMLS:C1334475 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:MAP2K6 semapv:UnspecifiedMatching OMIM:601254 MAP2K6 skos:exactMatch ncbigene:5608 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C1412698 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C1835896 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:KIF1A semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch ncbigene:547 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C1835896 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C1412698 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch UMLS:C1333209 semapv:UnspecifiedMatching OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:DDX1 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch UMLS:C1333209 semapv:UnspecifiedMatching OMIM:601257 DDX1 skos:exactMatch ncbigene:1653 semapv:UnspecifiedMatching -OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:CYP2J2 semapv:UnspecifiedMatching OMIM:601258 CYP2J2 skos:exactMatch ncbigene:1573 semapv:UnspecifiedMatching -OMIM:601259 AMBN skos:exactMatch hgnc.symbol:AMBN semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:CYP2J2 semapv:UnspecifiedMatching OMIM:601259 AMBN skos:exactMatch ncbigene:258 semapv:UnspecifiedMatching -OMIM:601260 ZKSCAN1 skos:exactMatch ncbigene:7586 semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch hgnc.symbol:AMBN semapv:UnspecifiedMatching OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:ZKSCAN1 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch ncbigene:7586 semapv:UnspecifiedMatching OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:ZSCAN21 semapv:UnspecifiedMatching OMIM:601261 ZSCAN21 skos:exactMatch ncbigene:7589 semapv:UnspecifiedMatching OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:ZNF16 semapv:UnspecifiedMatching OMIM:601262 ZNF16 skos:exactMatch ncbigene:7564 semapv:UnspecifiedMatching OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:MAP2K2 semapv:UnspecifiedMatching OMIM:601263 MAP2K2 skos:exactMatch ncbigene:5605 semapv:UnspecifiedMatching -OMIM:601265 NODAL skos:exactMatch hgnc.symbol:NODAL semapv:UnspecifiedMatching OMIM:601265 NODAL skos:exactMatch ncbigene:4838 semapv:UnspecifiedMatching -OMIM:601266 DUT skos:exactMatch ncbigene:1854 semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch hgnc.symbol:NODAL semapv:UnspecifiedMatching OMIM:601266 DUT skos:exactMatch hgnc.symbol:DUT semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch ncbigene:1854 semapv:UnspecifiedMatching OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:CCR2 semapv:UnspecifiedMatching OMIM:601267 CCR2 skos:exactMatch ncbigene:729230 semapv:UnspecifiedMatching OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:CCR3 semapv:UnspecifiedMatching OMIM:601268 CCR3 skos:exactMatch ncbigene:1232 semapv:UnspecifiedMatching OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:C1QBP semapv:UnspecifiedMatching OMIM:601269 C1QBP skos:exactMatch ncbigene:708 semapv:UnspecifiedMatching -OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:CYP4F3 semapv:UnspecifiedMatching OMIM:601270 CYP4F3 skos:exactMatch ncbigene:4051 semapv:UnspecifiedMatching -OMIM:601271 GUCA2B skos:exactMatch ncbigene:2981 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:CYP4F3 semapv:UnspecifiedMatching OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:GUCA2B semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch ncbigene:2981 semapv:UnspecifiedMatching OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:SNX1 semapv:UnspecifiedMatching OMIM:601272 SNX1 skos:exactMatch ncbigene:6642 semapv:UnspecifiedMatching OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:CLTCL1 semapv:UnspecifiedMatching @@ -11667,8 +11671,8 @@ OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:PTGR1 semapv:UnspecifiedMatching OMIM:601274 PTGR1 skos:exactMatch ncbigene:22949 semapv:UnspecifiedMatching OMIM:601275 GPM6A skos:exactMatch ncbigene:2823 semapv:UnspecifiedMatching OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:GPM6A semapv:UnspecifiedMatching -OMIM:601276 ZNF177 skos:exactMatch ncbigene:7730 semapv:UnspecifiedMatching OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:ZNF177 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch ncbigene:7730 semapv:UnspecifiedMatching OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:FRG1 semapv:UnspecifiedMatching OMIM:601278 FRG1 skos:exactMatch ncbigene:2483 semapv:UnspecifiedMatching OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:DGCR6 semapv:UnspecifiedMatching @@ -11689,36 +11693,36 @@ OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:SEM1 semapv:UnspecifiedMatching OMIM:601285 SEM1 skos:exactMatch ncbigene:7979 semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch ncbigene:7534 semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:YWHAZ semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch UMLS:C1421564 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:YWHAB semapv:UnspecifiedMatching OMIM:601289 YWHAB skos:exactMatch ncbigene:7529 semapv:UnspecifiedMatching OMIM:601290 SFN skos:exactMatch hgnc.symbol:SFN semapv:UnspecifiedMatching OMIM:601290 SFN skos:exactMatch ncbigene:2810 semapv:UnspecifiedMatching -OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:UGT8 semapv:UnspecifiedMatching OMIM:601291 UGT8 skos:exactMatch ncbigene:7368 semapv:UnspecifiedMatching -OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:SULT1A2 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:UGT8 semapv:UnspecifiedMatching OMIM:601292 SULT1A2 skos:exactMatch ncbigene:6799 semapv:UnspecifiedMatching -OMIM:601293 RHEB skos:exactMatch ncbigene:6009 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:SULT1A2 semapv:UnspecifiedMatching OMIM:601293 RHEB skos:exactMatch hgnc.symbol:RHEB semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch ncbigene:6009 semapv:UnspecifiedMatching OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:SLC10A2 semapv:UnspecifiedMatching OMIM:601295 SLC10A2 skos:exactMatch ncbigene:6555 semapv:UnspecifiedMatching OMIM:601296 MUSK skos:exactMatch hgnc.symbol:MUSK semapv:UnspecifiedMatching OMIM:601296 MUSK skos:exactMatch ncbigene:4593 semapv:UnspecifiedMatching OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:SOX15 semapv:UnspecifiedMatching OMIM:601297 SOX15 skos:exactMatch ncbigene:6665 semapv:UnspecifiedMatching -OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:BMPR1A semapv:UnspecifiedMatching OMIM:601299 BMPR1A skos:exactMatch ncbigene:657 semapv:UnspecifiedMatching -OMIM:601300 ACVR1B skos:exactMatch ncbigene:91 semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:BMPR1A semapv:UnspecifiedMatching OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:ACVR1B semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch ncbigene:91 semapv:UnspecifiedMatching OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:PPIL1 semapv:UnspecifiedMatching OMIM:601301 PPIL1 skos:exactMatch ncbigene:51645 semapv:UnspecifiedMatching OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:PPP3R1 semapv:UnspecifiedMatching OMIM:601302 PPP3R1 skos:exactMatch ncbigene:5534 semapv:UnspecifiedMatching OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:TBCB semapv:UnspecifiedMatching OMIM:601303 CKAP1 skos:exactMatch ncbigene:1155 semapv:UnspecifiedMatching -OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:SNU13 semapv:UnspecifiedMatching OMIM:601304 SNU13 skos:exactMatch ncbigene:4809 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:SNU13 semapv:UnspecifiedMatching OMIM:601305 HTR5A skos:exactMatch ncbigene:3361 semapv:UnspecifiedMatching OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:HTR5A semapv:UnspecifiedMatching OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:HCLS1 semapv:UnspecifiedMatching @@ -11731,34 +11735,34 @@ OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:SOAT2 semapv:UnspecifiedMatching OMIM:601311 SOAT2 skos:exactMatch ncbigene:8435 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch ncbigene:5310 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:PKD1 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch UMLS:C1418599 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch UMLS:C4016726 semapv:UnspecifiedMatching OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:HINT1 semapv:UnspecifiedMatching OMIM:601314 HINT1 skos:exactMatch ncbigene:3094 semapv:UnspecifiedMatching OMIM:601318 iia 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:NUCB1 semapv:UnspecifiedMatching OMIM:601323 NUCB1 skos:exactMatch ncbigene:4924 semapv:UnspecifiedMatching -OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:HNRNPD semapv:UnspecifiedMatching OMIM:601324 HNRNPD skos:exactMatch ncbigene:3184 semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:HNRNPD semapv:UnspecifiedMatching OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:CNTN3 semapv:UnspecifiedMatching OMIM:601325 CNTN3 skos:exactMatch ncbigene:5067 semapv:UnspecifiedMatching OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:CLDN11 semapv:UnspecifiedMatching OMIM:601326 CLDN11 skos:exactMatch ncbigene:5010 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:SCN2B semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch ncbigene:6327 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:SCN2B semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch UMLS:C1419860 semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch ncbigene:6339 semapv:UnspecifiedMatching OMIM:601328 SCNN1D skos:exactMatch UMLS:C1419870 semapv:UnspecifiedMatching OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:SCNN1D semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch ncbigene:6339 semapv:UnspecifiedMatching OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:LIMK1 semapv:UnspecifiedMatching OMIM:601329 LIMK1 skos:exactMatch ncbigene:3984 semapv:UnspecifiedMatching OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:GUCY2C semapv:UnspecifiedMatching OMIM:601330 GUCY2C skos:exactMatch ncbigene:2984 semapv:UnspecifiedMatching -OMIM:601332 MKX skos:exactMatch hgnc.symbol:MKX semapv:UnspecifiedMatching OMIM:601332 MKX skos:exactMatch ncbigene:283078 semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch hgnc.symbol:MKX semapv:UnspecifiedMatching OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:SUPT6H semapv:UnspecifiedMatching OMIM:601333 SUPT6H skos:exactMatch ncbigene:6830 semapv:UnspecifiedMatching OMIM:601333 SUPT6H skos:exactMatch UMLS:C0812269 semapv:UnspecifiedMatching @@ -11777,43 +11781,43 @@ OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:CSE1L semapv:UnspecifiedMatching OMIM:601342 CSE1L skos:exactMatch ncbigene:1434 semapv:UnspecifiedMatching OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching -OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching OMIM:601361 GDF10 skos:exactMatch ncbigene:2662 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:CDH13 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch ncbigene:1012 semapv:UnspecifiedMatching -OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:DVL1 semapv:UnspecifiedMatching OMIM:601365 DVL1 skos:exactMatch ncbigene:1855 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:DVL1 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch UMLS:C1334468 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:SMAD2 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch ncbigene:4087 semapv:UnspecifiedMatching OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:DVL3 semapv:UnspecifiedMatching OMIM:601368 DVL3 skos:exactMatch ncbigene:1857 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016731 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:CCR5 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4017844 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016731 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4016730 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch ncbigene:1234 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:CCR5 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4016729 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C1836031 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016727 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016728 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch ncbigene:1234 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C2677247 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C1836230 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016728 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C1836031 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C1835867 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C1332700 semapv:UnspecifiedMatching -OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:EFNA4 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016727 semapv:UnspecifiedMatching OMIM:601380 EFNA4 skos:exactMatch ncbigene:1945 semapv:UnspecifiedMatching -OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:EFNA4 semapv:UnspecifiedMatching OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:EFNA3 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:AQP6 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch ncbigene:363 semapv:UnspecifiedMatching OMIM:601384 LY6E skos:exactMatch hgnc.symbol:LY6E semapv:UnspecifiedMatching OMIM:601384 LY6E skos:exactMatch ncbigene:4061 semapv:UnspecifiedMatching OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:TUSC3 semapv:UnspecifiedMatching OMIM:601385 TUSC3 skos:exactMatch ncbigene:7991 semapv:UnspecifiedMatching -OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:TSG101 semapv:UnspecifiedMatching OMIM:601387 TSG101 skos:exactMatch ncbigene:7251 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:TSG101 semapv:UnspecifiedMatching OMIM:601388 iia 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:CCL13 semapv:UnspecifiedMatching OMIM:601391 CCL13 skos:exactMatch ncbigene:6357 semapv:UnspecifiedMatching @@ -11821,8 +11825,8 @@ OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:CCL14 semapv:UnspecifiedMatching OMIM:601392 CCL14 skos:exactMatch ncbigene:6358 semapv:UnspecifiedMatching OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:CCL15 semapv:UnspecifiedMatching OMIM:601393 CCL15 skos:exactMatch ncbigene:6359 semapv:UnspecifiedMatching -OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:CCL16 semapv:UnspecifiedMatching OMIM:601394 CCL16 skos:exactMatch ncbigene:6360 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:CCL16 semapv:UnspecifiedMatching OMIM:601395 CCL3L1 skos:exactMatch ncbigene:6349 semapv:UnspecifiedMatching OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:CCL3L1 semapv:UnspecifiedMatching OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:WNT8B semapv:UnspecifiedMatching @@ -11842,17 +11846,17 @@ OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:DOCK1 semapv:UnspecifiedMatching OMIM:601403 DOCK1 skos:exactMatch ncbigene:1793 semapv:UnspecifiedMatching OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:GPR68 semapv:UnspecifiedMatching OMIM:601404 GPR68 skos:exactMatch ncbigene:8111 semapv:UnspecifiedMatching -OMIM:601405 CTRC skos:exactMatch ncbigene:11330 semapv:UnspecifiedMatching OMIM:601405 CTRC skos:exactMatch hgnc.symbol:CTRC semapv:UnspecifiedMatching -OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch ncbigene:11330 semapv:UnspecifiedMatching OMIM:601406 BCL7A skos:exactMatch ncbigene:605 semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching OMIM:601407 iia 2 diabetes mellitus 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch ncbigene:7994 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C1421709 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:KAT6A semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch ncbigene:10524 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch ncbigene:7994 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:KAT5 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch ncbigene:10524 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch UMLS:C1333931 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch UMLS:C1832386 semapv:UnspecifiedMatching @@ -11861,20 +11865,20 @@ OMIM:601411 SGCD skos:exactMatch hgnc.symbol:SGCD semapv:UnspecifiedMatching OMIM:601411 SGCD skos:exactMatch ncbigene:6444 semapv:UnspecifiedMatching OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:601413 DIO2 skos:exactMatch ncbigene:1734 semapv:UnspecifiedMatching OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:DIO2 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch ncbigene:1734 semapv:UnspecifiedMatching OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:MYBL2 semapv:UnspecifiedMatching OMIM:601415 MYBL2 skos:exactMatch ncbigene:4605 semapv:UnspecifiedMatching -OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:SLC39A7 semapv:UnspecifiedMatching OMIM:601416 SLC39A7 skos:exactMatch ncbigene:7922 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:SLC39A7 semapv:UnspecifiedMatching OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:HSD17B8 semapv:UnspecifiedMatching OMIM:601417 HSD17B8 skos:exactMatch ncbigene:7923 semapv:UnspecifiedMatching OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:RRBP1 semapv:UnspecifiedMatching OMIM:601418 RRBP1 skos:exactMatch ncbigene:6238 semapv:UnspecifiedMatching OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching -OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:KARS1 semapv:UnspecifiedMatching OMIM:601421 KARS1 skos:exactMatch ncbigene:3735 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:KARS1 semapv:UnspecifiedMatching OMIM:601422 LUZP1 skos:exactMatch ncbigene:7798 semapv:UnspecifiedMatching OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:LUZP1 semapv:UnspecifiedMatching OMIM:601423 TDG skos:exactMatch hgnc.symbol:TDG semapv:UnspecifiedMatching @@ -11885,36 +11889,36 @@ OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:TCEA1 semapv:UnspecifiedMatching OMIM:601425 TCEA1 skos:exactMatch ncbigene:6917 semapv:UnspecifiedMatching OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:NR2C2 semapv:UnspecifiedMatching OMIM:601426 NR2C2 skos:exactMatch ncbigene:7182 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch ncbigene:100151683 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:RNU4ATAC semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch ncbigene:100151683 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1832361 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1846059 semapv:UnspecifiedMatching OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:RNU6ATAC semapv:UnspecifiedMatching OMIM:601429 RNU6ATAC skos:exactMatch ncbigene:100151684 semapv:UnspecifiedMatching -OMIM:601430 UPF1 skos:exactMatch ncbigene:5976 semapv:UnspecifiedMatching OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:UPF1 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch ncbigene:5976 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:TRA-TGC7-1 semapv:UnspecifiedMatching OMIM:601431 TRA-TGC7-1 skos:exactMatch ncbigene:7154 semapv:UnspecifiedMatching OMIM:601431 TRA-TGC7-1 skos:exactMatch UMLS:C1420951 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:TRA-TGC7-1 semapv:UnspecifiedMatching OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:TRR-TCG4-1 semapv:UnspecifiedMatching OMIM:601432 TRR-TCG4-1 skos:exactMatch ncbigene:7232 semapv:UnspecifiedMatching OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:SKP1 semapv:UnspecifiedMatching OMIM:601434 SKP1 skos:exactMatch ncbigene:6500 semapv:UnspecifiedMatching OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:SKP1P2 semapv:UnspecifiedMatching OMIM:601435 SKP1P2 skos:exactMatch ncbigene:728622 semapv:UnspecifiedMatching -OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:SKP2 semapv:UnspecifiedMatching OMIM:601436 SKP2 skos:exactMatch ncbigene:6502 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch UMLS:C1414557 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:FCGRT semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:SKP2 semapv:UnspecifiedMatching OMIM:601437 FCGRT skos:exactMatch ncbigene:2217 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:ABCC9 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch ncbigene:10060 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C1412083 semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:FCGRT semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch UMLS:C1414557 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C1412083 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:ABCC9 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch ncbigene:10060 semapv:UnspecifiedMatching OMIM:601440 DGKE skos:exactMatch ncbigene:8526 semapv:UnspecifiedMatching OMIM:601440 DGKE skos:exactMatch hgnc.symbol:DGKE semapv:UnspecifiedMatching OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:DGKZ semapv:UnspecifiedMatching @@ -11923,32 +11927,32 @@ OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:CFL1 semapv:UnspecifiedMatching OMIM:601442 CFL1 skos:exactMatch ncbigene:1072 semapv:UnspecifiedMatching OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:CFL2 semapv:UnspecifiedMatching OMIM:601443 CFL2 skos:exactMatch ncbigene:1073 semapv:UnspecifiedMatching -OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:BLOC1S1 semapv:UnspecifiedMatching OMIM:601444 BLOC1S1 skos:exactMatch ncbigene:2647 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch ncbigene:4715 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:BLOC1S1 semapv:UnspecifiedMatching OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:NDUFB9 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch ncbigene:4715 semapv:UnspecifiedMatching OMIM:601445 NDUFB9 skos:exactMatch UMLS:C1417641 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching OMIM:601447 USP5 skos:exactMatch hgnc.symbol:USP5 semapv:UnspecifiedMatching OMIM:601447 USP5 skos:exactMatch ncbigene:8078 semapv:UnspecifiedMatching OMIM:601448 NPAT skos:exactMatch hgnc.symbol:NPAT semapv:UnspecifiedMatching OMIM:601448 NPAT skos:exactMatch ncbigene:4863 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching -OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching OMIM:601459 PNOC skos:exactMatch hgnc.symbol:PNOC semapv:UnspecifiedMatching -OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:SLCO2A1 semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching OMIM:601460 SLCO2A1 skos:exactMatch ncbigene:6578 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:SLCO2A1 semapv:UnspecifiedMatching OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:ATOH1 semapv:UnspecifiedMatching OMIM:601461 ATOH1 skos:exactMatch ncbigene:474 semapv:UnspecifiedMatching OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:HAS1 semapv:UnspecifiedMatching OMIM:601463 HAS1 skos:exactMatch ncbigene:3036 semapv:UnspecifiedMatching OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:AFF3 semapv:UnspecifiedMatching OMIM:601464 AFF3 skos:exactMatch ncbigene:3899 semapv:UnspecifiedMatching -OMIM:601465 DGUOK skos:exactMatch ncbigene:1716 semapv:UnspecifiedMatching OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:DGUOK semapv:UnspecifiedMatching -OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:MAD2L1 semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch ncbigene:1716 semapv:UnspecifiedMatching OMIM:601467 MAD2L1 skos:exactMatch ncbigene:4085 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:MAD2L1 semapv:UnspecifiedMatching OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:MAT2A semapv:UnspecifiedMatching OMIM:601468 MAT2A skos:exactMatch ncbigene:4144 semapv:UnspecifiedMatching OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:PTH2R semapv:UnspecifiedMatching @@ -11959,36 +11963,36 @@ OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch UMLS:C1 OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching OMIM:601473 ZNF75A skos:exactMatch ncbigene:7627 semapv:UnspecifiedMatching OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:ZNF75A semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch ncbigene:5822 semapv:UnspecifiedMatching OMIM:601475 PWP2 skos:exactMatch UMLS:C1419145 semapv:UnspecifiedMatching OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:PWP2 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch ncbigene:5822 semapv:UnspecifiedMatching OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:LAPTM5 semapv:UnspecifiedMatching OMIM:601476 LAPTM5 skos:exactMatch ncbigene:7805 semapv:UnspecifiedMatching OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:MYO1A semapv:UnspecifiedMatching OMIM:601478 MYO1A skos:exactMatch ncbigene:4640 semapv:UnspecifiedMatching OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:MYO1E semapv:UnspecifiedMatching OMIM:601479 MYO1E skos:exactMatch ncbigene:4643 semapv:UnspecifiedMatching -OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:MYO1F semapv:UnspecifiedMatching OMIM:601480 MYO1F skos:exactMatch ncbigene:4542 semapv:UnspecifiedMatching -OMIM:601481 MYO10 skos:exactMatch ncbigene:4651 semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:MYO1F semapv:UnspecifiedMatching OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:MYO10 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch ncbigene:4651 semapv:UnspecifiedMatching OMIM:601482 DR1 skos:exactMatch hgnc.symbol:DR1 semapv:UnspecifiedMatching OMIM:601482 DR1 skos:exactMatch ncbigene:1810 semapv:UnspecifiedMatching OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:PEG3 semapv:UnspecifiedMatching OMIM:601483 PEG3 skos:exactMatch ncbigene:5178 semapv:UnspecifiedMatching OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:SELENOP semapv:UnspecifiedMatching OMIM:601484 SELENOP skos:exactMatch ncbigene:6414 semapv:UnspecifiedMatching -OMIM:601485 STX1B skos:exactMatch hgnc.symbol:STX1B semapv:UnspecifiedMatching OMIM:601485 STX1B skos:exactMatch ncbigene:112755 semapv:UnspecifiedMatching -OMIM:601486 DAZL skos:exactMatch ncbigene:1618 semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch hgnc.symbol:STX1B semapv:UnspecifiedMatching OMIM:601486 DAZL skos:exactMatch hgnc.symbol:DAZL semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C4016738 semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch ncbigene:1618 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch ncbigene:5468 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch hgnc.symbol:PPARG semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C5436966 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C5193186 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C4016735 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C4016738 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C4016737 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C4016735 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C1832253 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C1832251 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C1832250 semapv:UnspecifiedMatching @@ -11996,33 +12000,33 @@ OMIM:601487 PPARG skos:exactMatch UMLS:C1720861 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C1335238 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch ncbigene:4689 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:NCF4 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch UMLS:C1417610 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch ncbigene:4689 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch ncbigene:3483 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:IGFALS semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching OMIM:601489 IGFALS skos:exactMatch UMLS:C1456383 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:IGFALS semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch ncbigene:3483 semapv:UnspecifiedMatching OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:NFE2 semapv:UnspecifiedMatching OMIM:601490 NFE2 skos:exactMatch ncbigene:4778 semapv:UnspecifiedMatching OMIM:601491 IPW skos:exactMatch hgnc.symbol:IPW semapv:UnspecifiedMatching OMIM:601491 IPW skos:exactMatch ncbigene:3653 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C4225414 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C3152137 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C4225414 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:GFRA1 semapv:UnspecifiedMatching OMIM:601496 GFRA1 skos:exactMatch ncbigene:2674 semapv:UnspecifiedMatching OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:BAG1 semapv:UnspecifiedMatching OMIM:601497 BAG1 skos:exactMatch ncbigene:573 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C4693988 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch ncbigene:5190 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:PEX6 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C4693988 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C3553937 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C1418478 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C1364142 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching @@ -12040,153 +12044,153 @@ OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:FCGR1CP semapv:UnspecifiedMatchi OMIM:601503 FCGR1CP skos:exactMatch ncbigene:100132417 semapv:UnspecifiedMatching OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:SEC14L1 semapv:UnspecifiedMatching OMIM:601504 SEC14L1 skos:exactMatch ncbigene:6397 semapv:UnspecifiedMatching -OMIM:601505 ZNF146 skos:exactMatch ncbigene:7705 semapv:UnspecifiedMatching OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:ZNF146 semapv:UnspecifiedMatching -OMIM:601506 SEPT2 skos:exactMatch ncbigene:4735 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch ncbigene:7705 semapv:UnspecifiedMatching OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:SEPTIN2 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch ncbigene:4735 semapv:UnspecifiedMatching OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:AP3S1 semapv:UnspecifiedMatching OMIM:601507 AP3S1 skos:exactMatch ncbigene:1176 semapv:UnspecifiedMatching OMIM:601509 GGH skos:exactMatch hgnc.symbol:GGH semapv:UnspecifiedMatching OMIM:601509 GGH skos:exactMatch ncbigene:8836 semapv:UnspecifiedMatching -OMIM:601510 SCAP skos:exactMatch hgnc.symbol:SCAP semapv:UnspecifiedMatching OMIM:601510 SCAP skos:exactMatch ncbigene:22937 semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch hgnc.symbol:SCAP semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch ncbigene:6776 semapv:UnspecifiedMatching OMIM:601511 STAT5A skos:exactMatch UMLS:C1335875 semapv:UnspecifiedMatching OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:STAT5A semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch ncbigene:6776 semapv:UnspecifiedMatching -OMIM:601512 STAT6 skos:exactMatch ncbigene:6778 semapv:UnspecifiedMatching OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:STAT6 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch ncbigene:6778 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch UMLS:C1414597 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:FGF12 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch ncbigene:2257 semapv:UnspecifiedMatching -OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:FGF11 semapv:UnspecifiedMatching OMIM:601514 FGF11 skos:exactMatch ncbigene:2256 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:FGF11 semapv:UnspecifiedMatching OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:FGF14 semapv:UnspecifiedMatching OMIM:601515 FGF14 skos:exactMatch ncbigene:2259 semapv:UnspecifiedMatching -OMIM:601516 SF1 skos:exactMatch ncbigene:7536 semapv:UnspecifiedMatching OMIM:601516 SF1 skos:exactMatch hgnc.symbol:SF1 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch ncbigene:7536 semapv:UnspecifiedMatching OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:ATXN2 semapv:UnspecifiedMatching OMIM:601517 ATXN2 skos:exactMatch ncbigene:6311 semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch UMLS:C1412667 semapv:UnspecifiedMatching OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:ATP5ME semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch UMLS:C1412667 semapv:UnspecifiedMatching OMIM:601519 ATP5ME skos:exactMatch ncbigene:521 semapv:UnspecifiedMatching -OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:CCL17 semapv:UnspecifiedMatching OMIM:601520 CCL17 skos:exactMatch ncbigene:6361 semapv:UnspecifiedMatching -OMIM:601521 ESM1 skos:exactMatch ncbigene:11082 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:CCL17 semapv:UnspecifiedMatching OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:ESM1 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch ncbigene:11082 semapv:UnspecifiedMatching OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:GRB7 semapv:UnspecifiedMatching OMIM:601522 GRB7 skos:exactMatch ncbigene:2886 semapv:UnspecifiedMatching OMIM:601523 GRB10 skos:exactMatch UMLS:C1366512 semapv:UnspecifiedMatching OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:GRB10 semapv:UnspecifiedMatching OMIM:601523 GRB10 skos:exactMatch ncbigene:2887 semapv:UnspecifiedMatching -OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:GRB14 semapv:UnspecifiedMatching OMIM:601524 GRB14 skos:exactMatch ncbigene:2888 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:GRB14 semapv:UnspecifiedMatching OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:CHI3L1 semapv:UnspecifiedMatching OMIM:601525 CHI3L1 skos:exactMatch ncbigene:1116 semapv:UnspecifiedMatching -OMIM:601526 CHI3L2 skos:exactMatch ncbigene:1117 semapv:UnspecifiedMatching OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:CHI3L2 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch ncbigene:1117 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch UMLS:C1413127 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:ALX1 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch ncbigene:8092 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch UMLS:C1336933 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:VEGFC semapv:UnspecifiedMatching OMIM:601528 VEGFC skos:exactMatch ncbigene:7424 semapv:UnspecifiedMatching -OMIM:601529 NR2C1 skos:exactMatch ncbigene:7181 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:VEGFC semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch UMLS:C1336933 semapv:UnspecifiedMatching OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:NR2C1 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch ncbigene:7181 semapv:UnspecifiedMatching OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:SQSTM1 semapv:UnspecifiedMatching OMIM:601530 SQSTM1 skos:exactMatch ncbigene:8878 semapv:UnspecifiedMatching OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:LTB4R semapv:UnspecifiedMatching OMIM:601531 LTB4R skos:exactMatch ncbigene:1241 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch UMLS:C1332665 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:CASP6 semapv:UnspecifiedMatching OMIM:601532 CASP6 skos:exactMatch ncbigene:839 semapv:UnspecifiedMatching -OMIM:601533 ADAM2 skos:exactMatch ncbigene:2515 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:CASP6 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch UMLS:C1332665 semapv:UnspecifiedMatching OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:ADAM2 semapv:UnspecifiedMatching -OMIM:601534 KCNJ3 skos:exactMatch ncbigene:3760 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch ncbigene:2515 semapv:UnspecifiedMatching OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:KCNJ3 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch ncbigene:3760 semapv:UnspecifiedMatching OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:EFNA5 semapv:UnspecifiedMatching OMIM:601535 EFNA5 skos:exactMatch ncbigene:1946 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch UMLS:C1418947 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:PROP1 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch ncbigene:5626 semapv:UnspecifiedMatching OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:BRD2 semapv:UnspecifiedMatching OMIM:601540 BRD2 skos:exactMatch ncbigene:6046 semapv:UnspecifiedMatching -OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:BRD3 semapv:UnspecifiedMatching OMIM:601541 BRD3 skos:exactMatch ncbigene:8019 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:BRD3 semapv:UnspecifiedMatching OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:PITX2 semapv:UnspecifiedMatching OMIM:601542 PITX2 skos:exactMatch ncbigene:5308 semapv:UnspecifiedMatching -OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching -OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching +OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:PAFAH1B1 semapv:UnspecifiedMatching OMIM:601545 PAFAH1B1 skos:exactMatch ncbigene:5048 semapv:UnspecifiedMatching OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:PROX1 semapv:UnspecifiedMatching OMIM:601546 PROX1 skos:exactMatch ncbigene:5629 semapv:UnspecifiedMatching OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:EFEMP1 semapv:UnspecifiedMatching OMIM:601548 EFEMP1 skos:exactMatch ncbigene:2202 semapv:UnspecifiedMatching -OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:DYNLT1 semapv:UnspecifiedMatching OMIM:601554 DYNLT1 skos:exactMatch ncbigene:6993 semapv:UnspecifiedMatching -OMIM:601555 RND2 skos:exactMatch ncbigene:8153 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:DYNLT1 semapv:UnspecifiedMatching OMIM:601555 RND2 skos:exactMatch hgnc.symbol:RND2 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch ncbigene:8153 semapv:UnspecifiedMatching OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:ATXN1 semapv:UnspecifiedMatching OMIM:601556 ATXN1 skos:exactMatch ncbigene:6310 semapv:UnspecifiedMatching OMIM:601557 ACACB skos:exactMatch hgnc.symbol:ACACB semapv:UnspecifiedMatching OMIM:601557 ACACB skos:exactMatch ncbigene:32 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch UMLS:C1426009 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:RBPMS semapv:UnspecifiedMatching OMIM:601558 RBPMS skos:exactMatch ncbigene:11030 semapv:UnspecifiedMatching -OMIM:601562 DYNLL1 skos:exactMatch ncbigene:8655 semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:RBPMS semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch UMLS:C1426009 semapv:UnspecifiedMatching OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:DYNLL1 semapv:UnspecifiedMatching -OMIM:601564 PRSS2 skos:exactMatch ncbigene:5645 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch ncbigene:8655 semapv:UnspecifiedMatching OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:PRSS2 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch ncbigene:5645 semapv:UnspecifiedMatching OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:IRF8 semapv:UnspecifiedMatching OMIM:601565 IRF8 skos:exactMatch ncbigene:3394 semapv:UnspecifiedMatching OMIM:601566 ING1 skos:exactMatch hgnc.symbol:ING1 semapv:UnspecifiedMatching OMIM:601566 ING1 skos:exactMatch ncbigene:3621 semapv:UnspecifiedMatching -OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:LMAN1 semapv:UnspecifiedMatching OMIM:601567 LMAN1 skos:exactMatch ncbigene:3998 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:LMAN1 semapv:UnspecifiedMatching OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:ADD3 semapv:UnspecifiedMatching OMIM:601568 ADD3 skos:exactMatch ncbigene:120 semapv:UnspecifiedMatching -OMIM:601569 UBE2G1 skos:exactMatch ncbigene:7326 semapv:UnspecifiedMatching OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:UBE2G1 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch ncbigene:7326 semapv:UnspecifiedMatching OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:WNT7A semapv:UnspecifiedMatching OMIM:601570 WNT7A skos:exactMatch ncbigene:7476 semapv:UnspecifiedMatching OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:CAPZA2 semapv:UnspecifiedMatching OMIM:601571 CAPZA2 skos:exactMatch ncbigene:830 semapv:UnspecifiedMatching -OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:CAPZB semapv:UnspecifiedMatching OMIM:601572 CAPZB skos:exactMatch ncbigene:832 semapv:UnspecifiedMatching -OMIM:601573 EZH2 skos:exactMatch ncbigene:2146 semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:CAPZB semapv:UnspecifiedMatching OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:EZH2 semapv:UnspecifiedMatching -OMIM:601574 TAF15 skos:exactMatch ncbigene:8148 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch ncbigene:2146 semapv:UnspecifiedMatching OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:TAF15 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch ncbigene:8148 semapv:UnspecifiedMatching OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:FOSL2 semapv:UnspecifiedMatching OMIM:601575 FOSL2 skos:exactMatch ncbigene:2355 semapv:UnspecifiedMatching OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:PTPRS semapv:UnspecifiedMatching OMIM:601576 PTPRS skos:exactMatch ncbigene:5802 semapv:UnspecifiedMatching OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:PTPRCAP semapv:UnspecifiedMatching OMIM:601577 PTPRCAP skos:exactMatch ncbigene:5790 semapv:UnspecifiedMatching -OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:CCNG1 semapv:UnspecifiedMatching OMIM:601578 CCNG1 skos:exactMatch ncbigene:900 semapv:UnspecifiedMatching -OMIM:601579 OAZ1 skos:exactMatch ncbigene:4946 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:CCNG1 semapv:UnspecifiedMatching OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:OAZ1 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch ncbigene:4946 semapv:UnspecifiedMatching OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:CAPZA1 semapv:UnspecifiedMatching OMIM:601580 CAPZA1 skos:exactMatch ncbigene:829 semapv:UnspecifiedMatching OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:NRCAM semapv:UnspecifiedMatching OMIM:601581 NRCAM skos:exactMatch ncbigene:4897 semapv:UnspecifiedMatching OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:INPP5D semapv:UnspecifiedMatching OMIM:601582 INPP5D skos:exactMatch ncbigene:3635 semapv:UnspecifiedMatching -OMIM:601583 wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching OMIM:601583 wilms tumor 5 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching -OMIM:601584 PTP4A2 skos:exactMatch ncbigene:8073 semapv:UnspecifiedMatching +OMIM:601583 wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:PTP4A2 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch ncbigene:8073 semapv:UnspecifiedMatching OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:PTP4A1 semapv:UnspecifiedMatching OMIM:601585 PTP4A1 skos:exactMatch ncbigene:7803 semapv:UnspecifiedMatching OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:PTGER4 semapv:UnspecifiedMatching @@ -12195,30 +12199,30 @@ OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:RASA2 semapv:UnspecifiedMatching OMIM:601589 RASA2 skos:exactMatch ncbigene:5922 semapv:UnspecifiedMatching OMIM:601590 EVPL skos:exactMatch ncbigene:2125 semapv:UnspecifiedMatching OMIM:601590 EVPL skos:exactMatch hgnc.symbol:EVPL semapv:UnspecifiedMatching -OMIM:601591 PRKG2 skos:exactMatch ncbigene:5593 semapv:UnspecifiedMatching OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:PRKG2 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch ncbigene:5593 semapv:UnspecifiedMatching OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:RAPSN semapv:UnspecifiedMatching OMIM:601592 RAPSN skos:exactMatch ncbigene:5913 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch ncbigene:580 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch UMLS:C1332381 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:BARD1 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch ncbigene:580 semapv:UnspecifiedMatching -OMIM:601594 JARID2 skos:exactMatch ncbigene:3720 semapv:UnspecifiedMatching OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:JARID2 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch ncbigene:3720 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch UMLS:C1416962 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:BTG2 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch ncbigene:7832 semapv:UnspecifiedMatching -OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:PTPRD semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601598 PTPRD skos:exactMatch ncbigene:5789 semapv:UnspecifiedMatching -OMIM:601599 SSPN skos:exactMatch ncbigene:8082 semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:PTPRD semapv:UnspecifiedMatching OMIM:601599 SSPN skos:exactMatch hgnc.symbol:SSPN semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch ncbigene:8082 semapv:UnspecifiedMatching OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:ETV5 semapv:UnspecifiedMatching OMIM:601600 ETV5 skos:exactMatch ncbigene:2119 semapv:UnspecifiedMatching OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:TFAP2B semapv:UnspecifiedMatching @@ -12227,86 +12231,86 @@ OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:TFAP2C semapv:UnspecifiedMatching OMIM:601602 TFAP2C skos:exactMatch ncbigene:7022 semapv:UnspecifiedMatching OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:LCP2 semapv:UnspecifiedMatching OMIM:601603 LCP2 skos:exactMatch ncbigene:3937 semapv:UnspecifiedMatching -OMIM:601604 IL12RB1 skos:exactMatch ncbigene:3594 semapv:UnspecifiedMatching OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:IL12RB1 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C0812273 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C2750405 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4016745 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch ncbigene:3594 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:SMARCB1 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4016745 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch ncbigene:6598 semapv:UnspecifiedMatching -OMIM:601609 HADH skos:exactMatch ncbigene:3033 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C2750405 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C0812273 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching OMIM:601609 HADH skos:exactMatch hgnc.symbol:HADH semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch ncbigene:3033 semapv:UnspecifiedMatching OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:BTN1A1 semapv:UnspecifiedMatching OMIM:601610 BTN1A1 skos:exactMatch ncbigene:696 semapv:UnspecifiedMatching OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:SLC14A2 semapv:UnspecifiedMatching OMIM:601611 SLC14A2 skos:exactMatch ncbigene:8170 semapv:UnspecifiedMatching -OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:CXCR5 semapv:UnspecifiedMatching OMIM:601613 CXCR5 skos:exactMatch ncbigene:643 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:CXCR5 semapv:UnspecifiedMatching OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:NTN1 semapv:UnspecifiedMatching OMIM:601614 NTN1 skos:exactMatch ncbigene:9423 semapv:UnspecifiedMatching -OMIM:601615 ABCA3 skos:exactMatch ncbigene:21 semapv:UnspecifiedMatching OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:ABCA3 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch ncbigene:21 semapv:UnspecifiedMatching OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:RDH5 semapv:UnspecifiedMatching OMIM:601617 RDH5 skos:exactMatch ncbigene:5959 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch ncbigene:54345 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C1420321 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:SOX18 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch ncbigene:54345 semapv:UnspecifiedMatching OMIM:601619 RALGDS skos:exactMatch ncbigene:5900 semapv:UnspecifiedMatching OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:RALGDS semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch UMLS:C1420615 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:TBX5 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch ncbigene:6910 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:TBX3 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch UMLS:C1420613 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:TBX3 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch ncbigene:6926 semapv:UnspecifiedMatching -OMIM:601622 TWIST1 skos:exactMatch ncbigene:7291 semapv:UnspecifiedMatching OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:TWIST1 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch UMLS:C1421293 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:UBE3A semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch ncbigene:7291 semapv:UnspecifiedMatching OMIM:601623 UBE3A skos:exactMatch ncbigene:7337 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:UBE3A semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch UMLS:C1421293 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:FCN2 semapv:UnspecifiedMatching OMIM:601624 FCN2 skos:exactMatch ncbigene:2220 semapv:UnspecifiedMatching OMIM:601625 ART1 skos:exactMatch hgnc.symbol:ART1 semapv:UnspecifiedMatching OMIM:601625 ART1 skos:exactMatch ncbigene:417 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch UMLS:C0023467 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:SMN2 semapv:UnspecifiedMatching OMIM:601627 SMN2 skos:exactMatch ncbigene:6607 semapv:UnspecifiedMatching -OMIM:601629 PCP4 skos:exactMatch ncbigene:5121 semapv:UnspecifiedMatching OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:PCP4 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch ncbigene:5121 semapv:UnspecifiedMatching OMIM:601632 POU4F1 skos:exactMatch UMLS:C1418765 semapv:UnspecifiedMatching OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:POU4F1 semapv:UnspecifiedMatching OMIM:601632 POU4F1 skos:exactMatch ncbigene:5457 semapv:UnspecifiedMatching OMIM:601633 NSF skos:exactMatch hgnc.symbol:NSF semapv:UnspecifiedMatching OMIM:601633 NSF skos:exactMatch ncbigene:4905 semapv:UnspecifiedMatching -OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:HAS2 semapv:UnspecifiedMatching OMIM:601636 HAS2 skos:exactMatch ncbigene:3037 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:HAS2 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:CYP51A1 semapv:UnspecifiedMatching OMIM:601637 CYP51A1 skos:exactMatch ncbigene:1595 semapv:UnspecifiedMatching OMIM:601637 CYP51A1 skos:exactMatch UMLS:C1413892 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:CYP51A1 semapv:UnspecifiedMatching OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:ARFIP2 semapv:UnspecifiedMatching OMIM:601638 ARFIP2 skos:exactMatch ncbigene:23647 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:PRKACA semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C1418901 semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:PRKACA semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch ncbigene:5566 semapv:UnspecifiedMatching OMIM:601641 ACOX2 skos:exactMatch ncbigene:8309 semapv:UnspecifiedMatching OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:ACOX2 semapv:UnspecifiedMatching @@ -12316,8 +12320,8 @@ OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:PPP2R5A semapv:UnspecifiedMatchi OMIM:601643 PPP2R5A skos:exactMatch ncbigene:5525 semapv:UnspecifiedMatching OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:PPP2R5B semapv:UnspecifiedMatching OMIM:601644 PPP2R5B skos:exactMatch ncbigene:5526 semapv:UnspecifiedMatching -OMIM:601645 PPP2R5C skos:exactMatch ncbigene:5527 semapv:UnspecifiedMatching OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:PPP2R5C semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch ncbigene:5527 semapv:UnspecifiedMatching OMIM:601646 PPP2R5D skos:exactMatch ncbigene:5528 semapv:UnspecifiedMatching OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:PPP2R5D semapv:UnspecifiedMatching OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:PPP2R5E semapv:UnspecifiedMatching @@ -12326,19 +12330,19 @@ OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:PSMD4 semapv:UnspecifiedMatching OMIM:601648 PSMD4 skos:exactMatch ncbigene:5710 semapv:UnspecifiedMatching OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:NAP1L4 semapv:UnspecifiedMatching OMIM:601651 NAP1L4 skos:exactMatch ncbigene:4676 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch hgnc.symbol:MYOC semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch ncbigene:4653 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C4016749 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch ncbigene:4653 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch hgnc.symbol:MYOC semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C4016750 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C1866550 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C1417573 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C1866550 semapv:UnspecifiedMatching OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:EYA1 semapv:UnspecifiedMatching OMIM:601653 EYA1 skos:exactMatch ncbigene:2138 semapv:UnspecifiedMatching OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:EYA2 semapv:UnspecifiedMatching OMIM:601654 EYA2 skos:exactMatch ncbigene:2139 semapv:UnspecifiedMatching -OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:EYA3 semapv:UnspecifiedMatching OMIM:601655 EYA3 skos:exactMatch ncbigene:2140 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:EYA3 semapv:UnspecifiedMatching OMIM:601656 GATA6 skos:exactMatch ncbigene:2627 semapv:UnspecifiedMatching OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:GATA6 semapv:UnspecifiedMatching OMIM:601657 EPYC skos:exactMatch hgnc.symbol:EPYC semapv:UnspecifiedMatching @@ -12347,20 +12351,20 @@ OMIM:601658 OC90 skos:exactMatch hgnc.symbol:OC90 semapv:UnspecifiedMatching OMIM:601658 OC90 skos:exactMatch ncbigene:729330 semapv:UnspecifiedMatching OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:GATD3 semapv:UnspecifiedMatching OMIM:601659 GATD3A skos:exactMatch ncbigene:8209 semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:UBE2I semapv:UnspecifiedMatching OMIM:601661 UBE2I skos:exactMatch ncbigene:7329 semapv:UnspecifiedMatching OMIM:601661 UBE2I skos:exactMatch UMLS:C1421283 semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:UBE2I semapv:UnspecifiedMatching -OMIM:601662 ALCAM skos:exactMatch ncbigene:214 semapv:UnspecifiedMatching OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:ALCAM semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch ncbigene:214 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch ncbigene:2100 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C1414462 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C4748626 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:ESR2 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch ncbigene:2100 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1540207 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:SNRNP200 semapv:UnspecifiedMatching OMIM:601664 SNRNP200 skos:exactMatch ncbigene:23020 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1540207 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching OMIM:601666 iia 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:ANGPT1 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch ncbigene:284 semapv:UnspecifiedMatching @@ -12370,9 +12374,9 @@ OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:DPF2 semapv:UnspecifiedMatching OMIM:601671 DPF2 skos:exactMatch ncbigene:5977 semapv:UnspecifiedMatching OMIM:601672 DPF3 skos:exactMatch ncbigene:8110 semapv:UnspecifiedMatching OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:DPF3 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch UMLS:C1414372 semapv:UnspecifiedMatching OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:ELAVL2 semapv:UnspecifiedMatching OMIM:601673 ELAVL2 skos:exactMatch ncbigene:1993 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch UMLS:C1414372 semapv:UnspecifiedMatching OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:EZH1 semapv:UnspecifiedMatching OMIM:601674 EZH1 skos:exactMatch ncbigene:2145 semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch UMLS:C1417625 semapv:UnspecifiedMatching @@ -12388,88 +12392,88 @@ OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:RPS6KA1 semapv:UnspecifiedMatchi OMIM:601684 RPS6KA1 skos:exactMatch ncbigene:6195 semapv:UnspecifiedMatching OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:RPS6KA2 semapv:UnspecifiedMatching OMIM:601685 RPS6KA2 skos:exactMatch ncbigene:6196 semapv:UnspecifiedMatching -OMIM:601686 TEP1 skos:exactMatch ncbigene:7011 semapv:UnspecifiedMatching OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:TEP1 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch ncbigene:7011 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch ncbigene:3859 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:KRT12 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch UMLS:C1416715 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch UMLS:C1416715 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C1415699 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch hgnc.symbol:HPGD semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch ncbigene:3248 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch ncbigene:6875 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:TAF4B semapv:UnspecifiedMatching OMIM:601689 TAF4B skos:exactMatch UMLS:C1420572 semapv:UnspecifiedMatching OMIM:601689 TAF4B skos:exactMatch UMLS:C4014449 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:TAF4B semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch ncbigene:6875 semapv:UnspecifiedMatching OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:PLA2G7 semapv:UnspecifiedMatching OMIM:601690 PLA2G7 skos:exactMatch ncbigene:7941 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:ABCA4 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch ncbigene:24 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1970573 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858080 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1412063 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858080 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1970573 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:ABCA4 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch ncbigene:24 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch ncbigene:7045 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:TGFBI semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1336623 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:UCP2 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch ncbigene:7351 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:CSN3 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch ncbigene:1448 semapv:UnspecifiedMatching OMIM:601697 SERPINB8 skos:exactMatch ncbigene:5271 semapv:UnspecifiedMatching OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:SERPINB8 semapv:UnspecifiedMatching -OMIM:601698 PTPRN2 skos:exactMatch ncbigene:5799 semapv:UnspecifiedMatching OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:PTPRN2 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch ncbigene:5799 semapv:UnspecifiedMatching OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:PTGIS semapv:UnspecifiedMatching OMIM:601699 PTGIS skos:exactMatch ncbigene:5740 semapv:UnspecifiedMatching OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:ROCK1 semapv:UnspecifiedMatching OMIM:601702 ROCK1 skos:exactMatch ncbigene:6093 semapv:UnspecifiedMatching -OMIM:601703 VASP skos:exactMatch hgnc.symbol:VASP semapv:UnspecifiedMatching OMIM:601703 VASP skos:exactMatch ncbigene:7408 semapv:UnspecifiedMatching -OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:CXCL9 semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch hgnc.symbol:VASP semapv:UnspecifiedMatching OMIM:601704 CXCL9 skos:exactMatch ncbigene:4283 semapv:UnspecifiedMatching -OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:CXCL9 semapv:UnspecifiedMatching OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching +OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching OMIM:601707 curry-jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching OMIM:601707 curry-jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:EIF5 semapv:UnspecifiedMatching OMIM:601710 EIF5 skos:exactMatch ncbigene:1983 semapv:UnspecifiedMatching OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:TRAF1 semapv:UnspecifiedMatching OMIM:601711 TRAF1 skos:exactMatch ncbigene:7185 semapv:UnspecifiedMatching -OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:BIRC2 semapv:UnspecifiedMatching OMIM:601712 BIRC2 skos:exactMatch ncbigene:329 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:BIRC2 semapv:UnspecifiedMatching OMIM:601713 GMFB skos:exactMatch hgnc.symbol:GMFB semapv:UnspecifiedMatching OMIM:601713 GMFB skos:exactMatch ncbigene:2764 semapv:UnspecifiedMatching -OMIM:601714 TEAD4 skos:exactMatch ncbigene:7004 semapv:UnspecifiedMatching OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:TEAD4 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch ncbigene:6780 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch ncbigene:7004 semapv:UnspecifiedMatching OMIM:601716 STAU1 skos:exactMatch UMLS:C1823131 semapv:UnspecifiedMatching OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:STAU1 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch ncbigene:6780 semapv:UnspecifiedMatching OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:STXBP2 semapv:UnspecifiedMatching OMIM:601717 STXBP2 skos:exactMatch ncbigene:6813 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1420614 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C5231525 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:TBX4 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch ncbigene:9496 semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch ncbigene:22944 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C5231525 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1420614 semapv:UnspecifiedMatching OMIM:601720 KIN skos:exactMatch UMLS:C1416642 semapv:UnspecifiedMatching OMIM:601720 KIN skos:exactMatch hgnc.symbol:KIN semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch ncbigene:22944 semapv:UnspecifiedMatching OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:BIRC3 semapv:UnspecifiedMatching OMIM:601721 BIRC3 skos:exactMatch ncbigene:330 semapv:UnspecifiedMatching OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:FZD5 semapv:UnspecifiedMatching @@ -12482,33 +12486,33 @@ OMIM:601725 NEUROD2 skos:exactMatch UMLS:C1417684 semapv:UnspecifiedMatching OMIM:601725 NEUROD2 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:NEUROG1 semapv:UnspecifiedMatching OMIM:601726 NEUROG1 skos:exactMatch ncbigene:4762 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch ncbigene:5728 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch hgnc.symbol:PTEN semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4016742 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C2751642 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0391826 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C1854416 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0694888 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0391826 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0025286 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0018553 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C1866398 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch ncbigene:5728 semapv:UnspecifiedMatching -OMIM:601729 TEAD2 skos:exactMatch ncbigene:8463 semapv:UnspecifiedMatching OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:TEAD2 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch ncbigene:8463 semapv:UnspecifiedMatching OMIM:601730 PIGC skos:exactMatch hgnc.symbol:PIGC semapv:UnspecifiedMatching OMIM:601730 PIGC skos:exactMatch ncbigene:5279 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch ncbigene:471 semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch UMLS:C1412625 semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch UMLS:C4225570 semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch hgnc.symbol:ATIC semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch ncbigene:471 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch ncbigene:6599 semapv:UnspecifiedMatching OMIM:601732 SMARCC1 skos:exactMatch UMLS:C1335845 semapv:UnspecifiedMatching OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:SMARCC1 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch ncbigene:6599 semapv:UnspecifiedMatching -OMIM:601733 MGST2 skos:exactMatch ncbigene:4258 semapv:UnspecifiedMatching OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:MGST2 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch ncbigene:4258 semapv:UnspecifiedMatching OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:SMARCC2 semapv:UnspecifiedMatching OMIM:601734 SMARCC2 skos:exactMatch ncbigene:6601 semapv:UnspecifiedMatching OMIM:601735 SMARCD1 skos:exactMatch UMLS:C1335847 semapv:UnspecifiedMatching @@ -12517,16 +12521,16 @@ OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:SMARCD1 semapv:UnspecifiedMatchi OMIM:601735 SMARCD1 skos:exactMatch ncbigene:6602 semapv:UnspecifiedMatching OMIM:601736 SMARCD2 skos:exactMatch ncbigene:6603 semapv:UnspecifiedMatching OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:SMARCD2 semapv:UnspecifiedMatching -OMIM:601737 SMARCD3 skos:exactMatch ncbigene:6604 semapv:UnspecifiedMatching OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:SMARCD3 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch ncbigene:6604 semapv:UnspecifiedMatching OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:EXTL1 semapv:UnspecifiedMatching OMIM:601738 EXTL1 skos:exactMatch ncbigene:2134 semapv:UnspecifiedMatching OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:MEIS1 semapv:UnspecifiedMatching OMIM:601739 MEIS1 skos:exactMatch ncbigene:4211 semapv:UnspecifiedMatching OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:MEIS2 semapv:UnspecifiedMatching OMIM:601740 MEIS2 skos:exactMatch ncbigene:4212 semapv:UnspecifiedMatching -OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:CUL5 semapv:UnspecifiedMatching OMIM:601741 CUL5 skos:exactMatch ncbigene:8065 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:CUL5 semapv:UnspecifiedMatching OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:TRIM28 semapv:UnspecifiedMatching OMIM:601742 TRIM28 skos:exactMatch ncbigene:10155 semapv:UnspecifiedMatching OMIM:601743 OSMR skos:exactMatch hgnc.symbol:OSMR semapv:UnspecifiedMatching @@ -12535,28 +12539,28 @@ OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:KCNK1 semapv:UnspecifiedMatching OMIM:601745 KCNK1 skos:exactMatch ncbigene:3775 semapv:UnspecifiedMatching OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:HYOU1 semapv:UnspecifiedMatching OMIM:601746 HYOU1 skos:exactMatch ncbigene:10525 semapv:UnspecifiedMatching -OMIM:601747 TRIM23 skos:exactMatch ncbigene:373 semapv:UnspecifiedMatching OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:TRIM23 semapv:UnspecifiedMatching -OMIM:601748 GTF2H2 skos:exactMatch ncbigene:2966 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch ncbigene:373 semapv:UnspecifiedMatching OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:GTF2H2 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch ncbigene:2966 semapv:UnspecifiedMatching OMIM:601749 GLMN skos:exactMatch hgnc.symbol:GLMN semapv:UnspecifiedMatching OMIM:601749 GLMN skos:exactMatch ncbigene:11146 semapv:UnspecifiedMatching OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:GTF2H3 semapv:UnspecifiedMatching OMIM:601750 GTF2H3 skos:exactMatch ncbigene:2967 semapv:UnspecifiedMatching -OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:MCHR1 semapv:UnspecifiedMatching OMIM:601751 MCHR1 skos:exactMatch ncbigene:2847 semapv:UnspecifiedMatching -OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:ENTPD1 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:MCHR1 semapv:UnspecifiedMatching OMIM:601752 ENTPD1 skos:exactMatch ncbigene:953 semapv:UnspecifiedMatching -OMIM:601753 PPID skos:exactMatch ncbigene:5481 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:ENTPD1 semapv:UnspecifiedMatching OMIM:601753 PPID skos:exactMatch hgnc.symbol:PPID semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch ncbigene:5481 semapv:UnspecifiedMatching OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:UFD1 semapv:UnspecifiedMatching OMIM:601754 UFD1L skos:exactMatch ncbigene:7353 semapv:UnspecifiedMatching OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:ESS2 semapv:UnspecifiedMatching OMIM:601755 ESS2 skos:exactMatch ncbigene:8220 semapv:UnspecifiedMatching OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:GALNT3 semapv:UnspecifiedMatching OMIM:601756 GALNT3 skos:exactMatch ncbigene:2591 semapv:UnspecifiedMatching -OMIM:601757 PEX7 skos:exactMatch ncbigene:5191 semapv:UnspecifiedMatching OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:PEX7 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch ncbigene:5191 semapv:UnspecifiedMatching OMIM:601758 PEX12 skos:exactMatch ncbigene:5193 semapv:UnspecifiedMatching OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:PEX12 semapv:UnspecifiedMatching OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:GTF2H4 semapv:UnspecifiedMatching @@ -12568,10 +12572,10 @@ OMIM:601762 CASP10 skos:exactMatch ncbigene:843 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch ncbigene:841 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:CASP8 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C4016759 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1968897 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1846545 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1332667 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1968897 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1332667 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:FZD9 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch ncbigene:8326 semapv:UnspecifiedMatching OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:HIP1 semapv:UnspecifiedMatching @@ -12584,8 +12588,8 @@ OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:NPY6R semapv:UnspecifiedMatching OMIM:601770 NPY6R skos:exactMatch ncbigene:4888 semapv:UnspecifiedMatching OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:CYP1B1 semapv:UnspecifiedMatching OMIM:601771 CYP1B1 skos:exactMatch ncbigene:1545 semapv:UnspecifiedMatching -OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:H2AX semapv:UnspecifiedMatching OMIM:601772 H2AFX skos:exactMatch ncbigene:3014 semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:H2AX semapv:UnspecifiedMatching OMIM:601773 PTPRN skos:exactMatch ncbigene:5798 semapv:UnspecifiedMatching OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:PTPRN semapv:UnspecifiedMatching OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:MGAT5 semapv:UnspecifiedMatching @@ -12606,31 +12610,31 @@ OMIM:601785 PMM2 skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch UMLS:C1418674 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:PMM2 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch ncbigene:5373 semapv:UnspecifiedMatching -OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:PMM1 semapv:UnspecifiedMatching OMIM:601786 PMM1 skos:exactMatch ncbigene:5372 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:PMM1 semapv:UnspecifiedMatching OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:TAF5 semapv:UnspecifiedMatching OMIM:601787 TAF5 skos:exactMatch ncbigene:6877 semapv:UnspecifiedMatching OMIM:601788 MSTN skos:exactMatch hgnc.symbol:MSTN semapv:UnspecifiedMatching OMIM:601788 MSTN skos:exactMatch ncbigene:2660 semapv:UnspecifiedMatching OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:PEX13 semapv:UnspecifiedMatching OMIM:601789 PEX13 skos:exactMatch ncbigene:5194 semapv:UnspecifiedMatching -OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:NPY4R semapv:UnspecifiedMatching OMIM:601790 PPYR1 skos:exactMatch ncbigene:5540 semapv:UnspecifiedMatching -OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:PEX14 semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:NPY4R semapv:UnspecifiedMatching OMIM:601791 PEX14 skos:exactMatch ncbigene:5195 semapv:UnspecifiedMatching -OMIM:601792 PPP1R2 skos:exactMatch ncbigene:5504 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:PEX14 semapv:UnspecifiedMatching OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:PPP1R2 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch ncbigene:5595 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:MAPK3 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch ncbigene:5504 semapv:UnspecifiedMatching OMIM:601795 MAPK3 skos:exactMatch UMLS:C1366765 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:MAPK3 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch ncbigene:5595 semapv:UnspecifiedMatching OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:TAF4 semapv:UnspecifiedMatching OMIM:601796 TAF4 skos:exactMatch ncbigene:6874 semapv:UnspecifiedMatching OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:CRYBG1 semapv:UnspecifiedMatching OMIM:601797 CRYBG1 skos:exactMatch ncbigene:202 semapv:UnspecifiedMatching OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:GNPDA1 semapv:UnspecifiedMatching OMIM:601798 GNPDA1 skos:exactMatch ncbigene:10007 semapv:UnspecifiedMatching -OMIM:601799 PI9 skos:exactMatch hgnc.symbol:SERPINB9 semapv:UnspecifiedMatching OMIM:601799 PI9 skos:exactMatch ncbigene:5272 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch hgnc.symbol:SERPINB9 semapv:UnspecifiedMatching OMIM:601801 SP2 skos:exactMatch ncbigene:6668 semapv:UnspecifiedMatching OMIM:601801 SP2 skos:exactMatch hgnc.symbol:SP2 semapv:UnspecifiedMatching OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:HESX1 semapv:UnspecifiedMatching @@ -12649,8 +12653,8 @@ OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:U OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:FXYD2 semapv:UnspecifiedMatching OMIM:601814 FXYD2 skos:exactMatch ncbigene:486 semapv:UnspecifiedMatching -OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching +OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch ncbigene:4832 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch hgnc.symbol:NME3 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch UMLS:C1417742 semapv:UnspecifiedMatching @@ -12659,43 +12663,43 @@ OMIM:601818 NME4 skos:exactMatch hgnc.symbol:NME4 semapv:UnspecifiedMatching OMIM:601818 NME4 skos:exactMatch ncbigene:4833 semapv:UnspecifiedMatching OMIM:601819 BPTF skos:exactMatch hgnc.symbol:BPTF semapv:UnspecifiedMatching OMIM:601819 BPTF skos:exactMatch ncbigene:2186 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C0027773 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:RNY1 semapv:UnspecifiedMatching OMIM:601821 RNY1 skos:exactMatch ncbigene:6084 semapv:UnspecifiedMatching OMIM:601822 RNY3 skos:exactMatch UMLS:C1419590 semapv:UnspecifiedMatching OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:RNY3 semapv:UnspecifiedMatching OMIM:601822 RNY3 skos:exactMatch ncbigene:6085 semapv:UnspecifiedMatching -OMIM:601823 RNY4 skos:exactMatch ncbigene:6086 semapv:UnspecifiedMatching OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:RNY4 semapv:UnspecifiedMatching -OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:RNY5 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch ncbigene:6086 semapv:UnspecifiedMatching OMIM:601824 RNY5 skos:exactMatch ncbigene:6090 semapv:UnspecifiedMatching -OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:NDUFS7 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:RNY5 semapv:UnspecifiedMatching OMIM:601825 NDUFS7 skos:exactMatch ncbigene:374291 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:NDUFS7 semapv:UnspecifiedMatching OMIM:601826 DGKD skos:exactMatch hgnc.symbol:DGKD semapv:UnspecifiedMatching OMIM:601826 DGKD skos:exactMatch ncbigene:8527 semapv:UnspecifiedMatching OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:NR4A2 semapv:UnspecifiedMatching OMIM:601828 NR4A2 skos:exactMatch ncbigene:4929 semapv:UnspecifiedMatching OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:H2BC21 semapv:UnspecifiedMatching OMIM:601831 HIST2H2BE skos:exactMatch ncbigene:8349 semapv:UnspecifiedMatching -OMIM:601832 RPL29 skos:exactMatch ncbigene:6159 semapv:UnspecifiedMatching OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:RPL29 semapv:UnspecifiedMatching -OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:AIF1 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch ncbigene:6159 semapv:UnspecifiedMatching OMIM:601833 AIF1 skos:exactMatch ncbigene:199 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:AIF1 semapv:UnspecifiedMatching OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:CCR8 semapv:UnspecifiedMatching OMIM:601834 CCR8 skos:exactMatch ncbigene:1237 semapv:UnspecifiedMatching OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:CCR6 semapv:UnspecifiedMatching OMIM:601835 CCR6 skos:exactMatch ncbigene:1235 semapv:UnspecifiedMatching OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:KIFAP3 semapv:UnspecifiedMatching OMIM:601836 KIFAP3 skos:exactMatch ncbigene:22920 semapv:UnspecifiedMatching -OMIM:601837 LIG4 skos:exactMatch ncbigene:3981 semapv:UnspecifiedMatching OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:LIG4 semapv:UnspecifiedMatching -OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:ITPK1 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch ncbigene:3981 semapv:UnspecifiedMatching OMIM:601838 ITPK1 skos:exactMatch ncbigene:3705 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:ITPK1 semapv:UnspecifiedMatching OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:EPHB3 semapv:UnspecifiedMatching OMIM:601839 EPHB3 skos:exactMatch ncbigene:2049 semapv:UnspecifiedMatching OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:SERPINA5 semapv:UnspecifiedMatching @@ -12710,11 +12714,11 @@ OMIM:601846 vacuolar neuromyopathy skos:exactMatch UMLS:C1866139 semapv:Unspecif OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch UMLS:C1427202 semapv:UnspecifiedMatching OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:TOMM20 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch UMLS:C1427202 semapv:UnspecifiedMatching OMIM:601848 TOMM20 skos:exactMatch ncbigene:9804 semapv:UnspecifiedMatching -OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:CLOCK semapv:UnspecifiedMatching OMIM:601851 CLOCK skos:exactMatch ncbigene:9575 semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:CLOCK semapv:UnspecifiedMatching OMIM:601852 ICAM5 skos:exactMatch ncbigene:7087 semapv:UnspecifiedMatching OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:ICAM5 semapv:UnspecifiedMatching OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch UMLS:C0795959 semapv:UnspecifiedMatching @@ -12725,30 +12729,30 @@ OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:ARHGEF1 semapv:UnspecifiedMatchi OMIM:601855 ARHGEF1 skos:exactMatch ncbigene:9138 semapv:UnspecifiedMatching OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:ZNF211 semapv:UnspecifiedMatching OMIM:601856 ZNF211 skos:exactMatch ncbigene:10520 semapv:UnspecifiedMatching -OMIM:601858 CLGN skos:exactMatch ncbigene:1047 semapv:UnspecifiedMatching OMIM:601858 CLGN skos:exactMatch hgnc.symbol:CLGN semapv:UnspecifiedMatching -OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:HSD17B4 semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch ncbigene:1047 semapv:UnspecifiedMatching OMIM:601860 HSD17B4 skos:exactMatch ncbigene:3295 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:HSD17B4 semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch UMLS:C1419365 semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch UMLS:C1859537 semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:RFXAP semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch ncbigene:5994 semapv:UnspecifiedMatching OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:RFX5 semapv:UnspecifiedMatching OMIM:601863 RFX5 skos:exactMatch ncbigene:5993 semapv:UnspecifiedMatching -OMIM:601865 PLOD2 skos:exactMatch ncbigene:5352 semapv:UnspecifiedMatching OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:PLOD2 semapv:UnspecifiedMatching -OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:SEMA4D semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch ncbigene:5352 semapv:UnspecifiedMatching OMIM:601866 SEMA4D skos:exactMatch ncbigene:10507 semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:SEMA4D semapv:UnspecifiedMatching OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:ATP1B3 semapv:UnspecifiedMatching OMIM:601867 ATP1B3 skos:exactMatch ncbigene:483 semapv:UnspecifiedMatching OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:METAP2 semapv:UnspecifiedMatching OMIM:601870 METAP2 skos:exactMatch ncbigene:10988 semapv:UnspecifiedMatching OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:CSRP2 semapv:UnspecifiedMatching OMIM:601871 CSRP2 skos:exactMatch ncbigene:1466 semapv:UnspecifiedMatching -OMIM:601872 SLC7A2 skos:exactMatch ncbigene:6542 semapv:UnspecifiedMatching OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:SLC7A2 semapv:UnspecifiedMatching -OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:B4GALNT1 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch ncbigene:6542 semapv:UnspecifiedMatching OMIM:601873 B4GALNT1 skos:exactMatch ncbigene:2583 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:B4GALNT1 semapv:UnspecifiedMatching OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:ELL2 semapv:UnspecifiedMatching OMIM:601874 ELL2 skos:exactMatch ncbigene:22936 semapv:UnspecifiedMatching OMIM:601877 LEFTY2 skos:exactMatch UMLS:C1537561 semapv:UnspecifiedMatching @@ -12757,39 +12761,39 @@ OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:LEFTY2 semapv:UnspecifiedMatching OMIM:601877 LEFTY2 skos:exactMatch ncbigene:7044 semapv:UnspecifiedMatching OMIM:601878 KLF10 skos:exactMatch ncbigene:7071 semapv:UnspecifiedMatching OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:KLF10 semapv:UnspecifiedMatching -OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:LGALS9 semapv:UnspecifiedMatching OMIM:601879 LGALS9 skos:exactMatch ncbigene:3965 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:LGALS9 semapv:UnspecifiedMatching OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:CX3CL1 semapv:UnspecifiedMatching OMIM:601880 CX3CL1 skos:exactMatch ncbigene:6376 semapv:UnspecifiedMatching OMIM:601881 RAX skos:exactMatch hgnc.symbol:RAX semapv:UnspecifiedMatching OMIM:601881 RAX skos:exactMatch ncbigene:30062 semapv:UnspecifiedMatching OMIM:601882 DFFA skos:exactMatch hgnc.symbol:DFFA semapv:UnspecifiedMatching OMIM:601882 DFFA skos:exactMatch ncbigene:1676 semapv:UnspecifiedMatching -OMIM:601883 DFFB skos:exactMatch ncbigene:1677 semapv:UnspecifiedMatching OMIM:601883 DFFB skos:exactMatch hgnc.symbol:DFFB semapv:UnspecifiedMatching -OMIM:601885 cataract 14, multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch ncbigene:1677 semapv:UnspecifiedMatching OMIM:601885 cataract 14, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:601885 cataract 14, multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:ASCL2 semapv:UnspecifiedMatching OMIM:601886 ASCL2 skos:exactMatch ncbigene:430 semapv:UnspecifiedMatching OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching -OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:NBEAP1 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:PTK7 semapv:UnspecifiedMatching OMIM:601890 PTK7 skos:exactMatch ncbigene:5754 semapv:UnspecifiedMatching -OMIM:601891 CST6 skos:exactMatch hgnc.symbol:CST6 semapv:UnspecifiedMatching OMIM:601891 CST6 skos:exactMatch ncbigene:1474 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch hgnc.symbol:CST6 semapv:UnspecifiedMatching OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:KPNA3 semapv:UnspecifiedMatching OMIM:601892 KPNA3 skos:exactMatch ncbigene:3839 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch hgnc.symbol:TRIO semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch ncbigene:7204 semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch UMLS:C1336674 semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching -OMIM:601895 TRAF2 skos:exactMatch ncbigene:7186 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch hgnc.symbol:TRIO semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch ncbigene:7204 semapv:UnspecifiedMatching OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:TRAF2 semapv:UnspecifiedMatching -OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:TRAF3 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch ncbigene:7186 semapv:UnspecifiedMatching OMIM:601896 TRAF3 skos:exactMatch ncbigene:7187 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:TRAF3 semapv:UnspecifiedMatching OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:ZNF148 semapv:UnspecifiedMatching OMIM:601897 ZNF148 skos:exactMatch ncbigene:7707 semapv:UnspecifiedMatching OMIM:601898 GHSR skos:exactMatch hgnc.symbol:GHSR semapv:UnspecifiedMatching @@ -12798,8 +12802,8 @@ OMIM:601899 STAM skos:exactMatch hgnc.symbol:STAM semapv:UnspecifiedMatching OMIM:601899 STAM skos:exactMatch ncbigene:8027 semapv:UnspecifiedMatching OMIM:601900 IRF4 skos:exactMatch ncbigene:3662 semapv:UnspecifiedMatching OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:IRF4 semapv:UnspecifiedMatching -OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:SLC8A2 semapv:UnspecifiedMatching OMIM:601901 SLC8A2 skos:exactMatch ncbigene:6543 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:SLC8A2 semapv:UnspecifiedMatching OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:ORC1 semapv:UnspecifiedMatching OMIM:601902 ORC1 skos:exactMatch ncbigene:4998 semapv:UnspecifiedMatching OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:UGT2B17 semapv:UnspecifiedMatching @@ -12807,10 +12811,10 @@ OMIM:601903 UGT2B17 skos:exactMatch ncbigene:7367 semapv:UnspecifiedMatching OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:RABGGTA semapv:UnspecifiedMatching OMIM:601905 RABGGTA skos:exactMatch ncbigene:5875 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch ncbigene:7480 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:WNT10B semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch UMLS:C1421511 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:NEO1 semapv:UnspecifiedMatching OMIM:601907 NEO1 skos:exactMatch ncbigene:4756 semapv:UnspecifiedMatching OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:GPR20 semapv:UnspecifiedMatching @@ -12819,138 +12823,138 @@ OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:GPR21 semapv:UnspecifiedMatching OMIM:601909 GPR21 skos:exactMatch ncbigene:2844 semapv:UnspecifiedMatching OMIM:601910 GPR22 skos:exactMatch ncbigene:2845 semapv:UnspecifiedMatching OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:GPR22 semapv:UnspecifiedMatching -OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:DLX4 semapv:UnspecifiedMatching OMIM:601911 DLX4 skos:exactMatch ncbigene:1748 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:DLX4 semapv:UnspecifiedMatching OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:SUMO1 semapv:UnspecifiedMatching OMIM:601912 SUMO1 skos:exactMatch ncbigene:7341 semapv:UnspecifiedMatching OMIM:601913 GET3 skos:exactMatch hgnc.symbol:GET3 semapv:UnspecifiedMatching OMIM:601913 GET3 skos:exactMatch ncbigene:439 semapv:UnspecifiedMatching -OMIM:601914 PRELP skos:exactMatch ncbigene:5549 semapv:UnspecifiedMatching OMIM:601914 PRELP skos:exactMatch hgnc.symbol:PRELP semapv:UnspecifiedMatching -OMIM:601915 TIMP4 skos:exactMatch ncbigene:7079 semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch ncbigene:5549 semapv:UnspecifiedMatching OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:TIMP4 semapv:UnspecifiedMatching -OMIM:601916 ARMET skos:exactMatch hgnc.symbol:MANF semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch ncbigene:7079 semapv:UnspecifiedMatching OMIM:601916 ARMET skos:exactMatch ncbigene:7873 semapv:UnspecifiedMatching +OMIM:601916 ARMET skos:exactMatch hgnc.symbol:MANF semapv:UnspecifiedMatching OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:ALDH3B2 semapv:UnspecifiedMatching OMIM:601917 ALDH3B2 skos:exactMatch ncbigene:222 semapv:UnspecifiedMatching OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:GDF9 semapv:UnspecifiedMatching OMIM:601918 GDF9 skos:exactMatch ncbigene:2661 semapv:UnspecifiedMatching OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:F2RL2 semapv:UnspecifiedMatching OMIM:601919 F2RL2 skos:exactMatch ncbigene:2151 semapv:UnspecifiedMatching -OMIM:601920 JAG1 skos:exactMatch ncbigene:182 semapv:UnspecifiedMatching OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:JAG1 semapv:UnspecifiedMatching -OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:ANGPT2 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch ncbigene:182 semapv:UnspecifiedMatching OMIM:601922 ANGPT2 skos:exactMatch ncbigene:285 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:ANGPT2 semapv:UnspecifiedMatching OMIM:601924 COPA skos:exactMatch hgnc.symbol:COPA semapv:UnspecifiedMatching OMIM:601924 COPA skos:exactMatch ncbigene:1314 semapv:UnspecifiedMatching OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:ARHGDIA semapv:UnspecifiedMatching OMIM:601925 ARHGDIA skos:exactMatch ncbigene:396 semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch ncbigene:7069 semapv:UnspecifiedMatching OMIM:601926 THRSP skos:exactMatch UMLS:C1420727 semapv:UnspecifiedMatching OMIM:601926 THRSP skos:exactMatch hgnc.symbol:THRSP semapv:UnspecifiedMatching -OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch ncbigene:7069 semapv:UnspecifiedMatching OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch UMLS:C2677167 semapv:UnspecifiedMatching -OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:KRT86 semapv:UnspecifiedMatching +OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching OMIM:601928 KRT86 skos:exactMatch ncbigene:3892 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:KRT86 semapv:UnspecifiedMatching OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:ATP2A3 semapv:UnspecifiedMatching OMIM:601929 ATP2A3 skos:exactMatch ncbigene:489 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch UMLS:C1538957 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:BNC1 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch ncbigene:646 semapv:UnspecifiedMatching -OMIM:601931 BCL2L2 skos:exactMatch ncbigene:599 semapv:UnspecifiedMatching OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:BCL2L2 semapv:UnspecifiedMatching -OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:MUC8 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch ncbigene:599 semapv:UnspecifiedMatching OMIM:601932 MUC8 skos:exactMatch ncbigene:100129528 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:MUC8 semapv:UnspecifiedMatching OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:CRY1 semapv:UnspecifiedMatching OMIM:601933 CRY1 skos:exactMatch ncbigene:1407 semapv:UnspecifiedMatching OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:GPS1 semapv:UnspecifiedMatching OMIM:601934 GPS1 skos:exactMatch ncbigene:2873 semapv:UnspecifiedMatching OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:GPS2 semapv:UnspecifiedMatching OMIM:601935 GPS2 skos:exactMatch ncbigene:2874 semapv:UnspecifiedMatching -OMIM:601936 PAWR skos:exactMatch ncbigene:5074 semapv:UnspecifiedMatching OMIM:601936 PAWR skos:exactMatch hgnc.symbol:PAWR semapv:UnspecifiedMatching -OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:NCOA3 semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch ncbigene:5074 semapv:UnspecifiedMatching OMIM:601937 NCOA3 skos:exactMatch ncbigene:8202 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:NCOA3 semapv:UnspecifiedMatching OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:SRPK1 semapv:UnspecifiedMatching OMIM:601939 SRPK1 skos:exactMatch ncbigene:6732 semapv:UnspecifiedMatching OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:SRSF4 semapv:UnspecifiedMatching OMIM:601940 SRSF4 skos:exactMatch ncbigene:6429 semapv:UnspecifiedMatching -OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching +OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching OMIM:601942 iia 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching -OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:SRSF9 semapv:UnspecifiedMatching OMIM:601943 SRSF9 skos:exactMatch ncbigene:8683 semapv:UnspecifiedMatching -OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:SRSF6 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:SRSF9 semapv:UnspecifiedMatching OMIM:601944 SRSF6 skos:exactMatch ncbigene:6431 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:SRSF6 semapv:UnspecifiedMatching OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:SFSWAP semapv:UnspecifiedMatching OMIM:601945 SFSWAP skos:exactMatch ncbigene:6433 semapv:UnspecifiedMatching OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:SOX12 semapv:UnspecifiedMatching OMIM:601947 SOX12 skos:exactMatch ncbigene:6666 semapv:UnspecifiedMatching -OMIM:601949 CACNB4 skos:exactMatch ncbigene:785 semapv:UnspecifiedMatching OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:CACNB4 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch ncbigene:785 semapv:UnspecifiedMatching OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:ZFPM1 semapv:UnspecifiedMatching OMIM:601950 ZFPM1 skos:exactMatch ncbigene:161882 semapv:UnspecifiedMatching OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:CLK1 semapv:UnspecifiedMatching OMIM:601951 CLK1 skos:exactMatch ncbigene:1195 semapv:UnspecifiedMatching -OMIM:601953 CCNH skos:exactMatch hgnc.symbol:CCNH semapv:UnspecifiedMatching OMIM:601953 CCNH skos:exactMatch ncbigene:902 semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch hgnc.symbol:CCNH semapv:UnspecifiedMatching OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:CDK7 semapv:UnspecifiedMatching OMIM:601955 CDK7 skos:exactMatch ncbigene:1022 semapv:UnspecifiedMatching -OMIM:601956 GFRA2 skos:exactMatch ncbigene:2675 semapv:UnspecifiedMatching OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:GFRA2 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch ncbigene:2675 semapv:UnspecifiedMatching OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:CACNB3 semapv:UnspecifiedMatching OMIM:601958 CACNB3 skos:exactMatch ncbigene:784 semapv:UnspecifiedMatching OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:NEK4 semapv:UnspecifiedMatching OMIM:601959 NEK4 skos:exactMatch ncbigene:6787 semapv:UnspecifiedMatching -OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:CCL20 semapv:UnspecifiedMatching OMIM:601960 CCL20 skos:exactMatch ncbigene:6364 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:CCL20 semapv:UnspecifiedMatching OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:PRMT2 semapv:UnspecifiedMatching OMIM:601961 PRMT2 skos:exactMatch ncbigene:3275 semapv:UnspecifiedMatching OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:TAPBP semapv:UnspecifiedMatching OMIM:601962 TAPBP skos:exactMatch ncbigene:6892 semapv:UnspecifiedMatching -OMIM:601963 TTC1 skos:exactMatch ncbigene:7265 semapv:UnspecifiedMatching OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:TTC1 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch ncbigene:7265 semapv:UnspecifiedMatching OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:DNAJC7 semapv:UnspecifiedMatching OMIM:601964 DNAJC7 skos:exactMatch ncbigene:7266 semapv:UnspecifiedMatching -OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:S1PR3 semapv:UnspecifiedMatching OMIM:601965 S1PR3 skos:exactMatch ncbigene:1903 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:S1PR3 semapv:UnspecifiedMatching OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:RSC1A1 semapv:UnspecifiedMatching OMIM:601966 RSC1A1 skos:exactMatch ncbigene:6248 semapv:UnspecifiedMatching OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:WNT7B semapv:UnspecifiedMatching OMIM:601967 WNT7B skos:exactMatch ncbigene:7477 semapv:UnspecifiedMatching -OMIM:601968 WNT2B skos:exactMatch ncbigene:7482 semapv:UnspecifiedMatching OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:WNT2B semapv:UnspecifiedMatching -OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:DMBT1 semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch ncbigene:7482 semapv:UnspecifiedMatching OMIM:601969 DMBT1 skos:exactMatch ncbigene:1755 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:DMBT1 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch ncbigene:7434 semapv:UnspecifiedMatching OMIM:601970 VIPR2 skos:exactMatch UMLS:C1421452 semapv:UnspecifiedMatching OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:VIPR2 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch ncbigene:7434 semapv:UnspecifiedMatching OMIM:601972 RORB skos:exactMatch hgnc.symbol:RORB semapv:UnspecifiedMatching OMIM:601972 RORB skos:exactMatch ncbigene:6096 semapv:UnspecifiedMatching -OMIM:601973 RARRES2 skos:exactMatch ncbigene:5919 semapv:UnspecifiedMatching OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:RARRES2 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch ncbigene:5919 semapv:UnspecifiedMatching OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:S1PR1 semapv:UnspecifiedMatching OMIM:601974 S1PR1 skos:exactMatch ncbigene:1901 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch UMLS:C1418612 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:PKP1 semapv:UnspecifiedMatching OMIM:601975 PKP1 skos:exactMatch ncbigene:5317 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:PKP1 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch UMLS:C1418612 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:SIGMAR1 semapv:UnspecifiedMatching OMIM:601978 SIGMAR1 skos:exactMatch ncbigene:10280 semapv:UnspecifiedMatching OMIM:601980 LIPF skos:exactMatch hgnc.symbol:LIPF semapv:UnspecifiedMatching OMIM:601980 LIPF skos:exactMatch ncbigene:8513 semapv:UnspecifiedMatching -OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:RNASE6 semapv:UnspecifiedMatching OMIM:601981 RNASE6 skos:exactMatch ncbigene:6039 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:RNASE6 semapv:UnspecifiedMatching OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:OGG1 semapv:UnspecifiedMatching OMIM:601982 OGG1 skos:exactMatch ncbigene:4968 semapv:UnspecifiedMatching OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:MAP4K1 semapv:UnspecifiedMatching OMIM:601983 MAP4K1 skos:exactMatch ncbigene:11184 semapv:UnspecifiedMatching -OMIM:601984 NCOA4 skos:exactMatch ncbigene:8031 semapv:UnspecifiedMatching OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:NCOA4 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch ncbigene:8031 semapv:UnspecifiedMatching OMIM:601985 CCDC6 skos:exactMatch ncbigene:8030 semapv:UnspecifiedMatching OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:CCDC6 semapv:UnspecifiedMatching OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:CPT1B semapv:UnspecifiedMatching @@ -12961,37 +12965,37 @@ OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:S100A13 semapv:UnspecifiedMatchi OMIM:601989 S100A13 skos:exactMatch ncbigene:6284 semapv:UnspecifiedMatching OMIM:601990 TP73 skos:exactMatch hgnc.symbol:TP73 semapv:UnspecifiedMatching OMIM:601990 TP73 skos:exactMatch ncbigene:7161 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:NOVA2 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394571 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch UMLS:C1334891 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394569 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394570 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch UMLS:C1334891 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch UMLS:C1334867 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch ncbigene:10499 semapv:UnspecifiedMatching -OMIM:601995 TNR skos:exactMatch ncbigene:7143 semapv:UnspecifiedMatching OMIM:601995 TNR skos:exactMatch hgnc.symbol:TNR semapv:UnspecifiedMatching -OMIM:601997 BID skos:exactMatch hgnc.symbol:BID semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch ncbigene:7143 semapv:UnspecifiedMatching OMIM:601997 BID skos:exactMatch ncbigene:637 semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch hgnc.symbol:BID semapv:UnspecifiedMatching OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:ESRRA semapv:UnspecifiedMatching OMIM:601998 ESRRA skos:exactMatch ncbigene:2101 semapv:UnspecifiedMatching OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:LHX1 semapv:UnspecifiedMatching OMIM:601999 LHX1 skos:exactMatch ncbigene:3975 semapv:UnspecifiedMatching OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:POLR1B semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch ncbigene:84172 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching OMIM:602000 POLR1B skos:exactMatch UMLS:C1426947 semapv:UnspecifiedMatching -OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:NPY5R semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch ncbigene:84172 semapv:UnspecifiedMatching OMIM:602001 NPY5R skos:exactMatch ncbigene:4889 semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:NPY5R semapv:UnspecifiedMatching OMIM:602002 ZYX skos:exactMatch hgnc.symbol:ZYX semapv:UnspecifiedMatching OMIM:602002 ZYX skos:exactMatch ncbigene:7791 semapv:UnspecifiedMatching OMIM:602003 LRMP skos:exactMatch hgnc.symbol:IRAG2 semapv:UnspecifiedMatching OMIM:602003 LRMP skos:exactMatch ncbigene:4033 semapv:UnspecifiedMatching -OMIM:602004 PTK6 skos:exactMatch ncbigene:5753 semapv:UnspecifiedMatching OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:PTK6 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:SORL1 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch ncbigene:5753 semapv:UnspecifiedMatching OMIM:602005 SORL1 skos:exactMatch ncbigene:6653 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:SORL1 semapv:UnspecifiedMatching OMIM:602005 SORL1 skos:exactMatch UMLS:C1420312 semapv:UnspecifiedMatching OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:MAPKAPK2 semapv:UnspecifiedMatching OMIM:602006 MAPKAPK2 skos:exactMatch ncbigene:9261 semapv:UnspecifiedMatching @@ -12999,12 +13003,12 @@ OMIM:602007 CRKL skos:exactMatch hgnc.symbol:CRKL semapv:UnspecifiedMatching OMIM:602007 CRKL skos:exactMatch ncbigene:1399 semapv:UnspecifiedMatching OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:IPO5 semapv:UnspecifiedMatching OMIM:602008 IPO5 skos:exactMatch ncbigene:3843 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:COX6A2 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch ncbigene:1339 semapv:UnspecifiedMatching OMIM:602009 COX6A2 skos:exactMatch UMLS:C1413648 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch ncbigene:1339 semapv:UnspecifiedMatching OMIM:602010 SRSF11 skos:exactMatch ncbigene:9295 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch UMLS:C1420440 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:ENTPD2 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch ncbigene:954 semapv:UnspecifiedMatching @@ -13012,21 +13016,21 @@ OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:POLR2G semapv:UnspecifiedMatching OMIM:602013 POLR2G skos:exactMatch ncbigene:5436 semapv:UnspecifiedMatching OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:ODF2 semapv:UnspecifiedMatching OMIM:602015 ODF2 skos:exactMatch ncbigene:4957 semapv:UnspecifiedMatching -OMIM:602016 KLF2 skos:exactMatch ncbigene:10365 semapv:UnspecifiedMatching OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:KLF2 semapv:UnspecifiedMatching -OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:PSMB1 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch ncbigene:10365 semapv:UnspecifiedMatching OMIM:602017 PSMB1 skos:exactMatch ncbigene:5689 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:PSMB1 semapv:UnspecifiedMatching OMIM:602018 NRTN skos:exactMatch hgnc.symbol:NRTN semapv:UnspecifiedMatching OMIM:602018 NRTN skos:exactMatch ncbigene:4902 semapv:UnspecifiedMatching OMIM:602019 SQLE skos:exactMatch hgnc.symbol:SQLE semapv:UnspecifiedMatching OMIM:602019 SQLE skos:exactMatch ncbigene:6713 semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch UMLS:C0812300 semapv:UnspecifiedMatching OMIM:602020 MAFG skos:exactMatch hgnc.symbol:MAFG semapv:UnspecifiedMatching OMIM:602020 MAFG skos:exactMatch ncbigene:4097 semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch UMLS:C0812300 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch UMLS:C1417581 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch ncbigene:4659 semapv:UnspecifiedMatching OMIM:602021 PPP1R12A skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch UMLS:C1417581 semapv:UnspecifiedMatching OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:PPP1R12A semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch ncbigene:4659 semapv:UnspecifiedMatching OMIM:602022 MALL skos:exactMatch hgnc.symbol:MALL semapv:UnspecifiedMatching OMIM:602022 MALL skos:exactMatch ncbigene:7851 semapv:UnspecifiedMatching OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:CLCNKB semapv:UnspecifiedMatching @@ -13041,81 +13045,81 @@ OMIM:602027 TERF2 skos:exactMatch ncbigene:7014 semapv:UnspecifiedMatching OMIM:602030 FUT7 skos:exactMatch UMLS:C1414868 semapv:UnspecifiedMatching OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:FUT7 semapv:UnspecifiedMatching OMIM:602030 FUT7 skos:exactMatch ncbigene:2529 semapv:UnspecifiedMatching -OMIM:602031 PGGT1B skos:exactMatch ncbigene:5229 semapv:UnspecifiedMatching OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:PGGT1B semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch ncbigene:5229 semapv:UnspecifiedMatching OMIM:602033 EML1 skos:exactMatch hgnc.symbol:EML1 semapv:UnspecifiedMatching OMIM:602033 EML1 skos:exactMatch ncbigene:2009 semapv:UnspecifiedMatching -OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:CRHR2 semapv:UnspecifiedMatching OMIM:602034 CRHR2 skos:exactMatch ncbigene:1395 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:CRHR2 semapv:UnspecifiedMatching OMIM:602035 PPP4C skos:exactMatch UMLS:C1418850 semapv:UnspecifiedMatching OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:PPP4C semapv:UnspecifiedMatching OMIM:602035 PPP4C skos:exactMatch ncbigene:5531 semapv:UnspecifiedMatching OMIM:602037 RHOH skos:exactMatch hgnc.symbol:RHOH semapv:UnspecifiedMatching OMIM:602037 RHOH skos:exactMatch ncbigene:399 semapv:UnspecifiedMatching -OMIM:602038 DUSP8 skos:exactMatch ncbigene:1850 semapv:UnspecifiedMatching OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:DUSP8 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch ncbigene:1850 semapv:UnspecifiedMatching OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:EIF3A semapv:UnspecifiedMatching OMIM:602039 EIF3A skos:exactMatch ncbigene:8661 semapv:UnspecifiedMatching -OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:NCAM2 semapv:UnspecifiedMatching OMIM:602040 NCAM2 skos:exactMatch ncbigene:4685 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:NCAM2 semapv:UnspecifiedMatching OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:NKX3-1 semapv:UnspecifiedMatching OMIM:602041 NKX3-1 skos:exactMatch ncbigene:4824 semapv:UnspecifiedMatching -OMIM:602042 GPR18 skos:exactMatch ncbigene:2841 semapv:UnspecifiedMatching OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:GPR18 semapv:UnspecifiedMatching -OMIM:602043 GPR31 skos:exactMatch ncbigene:2853 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch ncbigene:2841 semapv:UnspecifiedMatching OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:GPR31 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch ncbigene:2853 semapv:UnspecifiedMatching OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:UCP3 semapv:UnspecifiedMatching OMIM:602044 UCP3 skos:exactMatch ncbigene:7352 semapv:UnspecifiedMatching -OMIM:602045 RING1 skos:exactMatch hgnc.symbol:RING1 semapv:UnspecifiedMatching OMIM:602045 RING1 skos:exactMatch ncbigene:6015 semapv:UnspecifiedMatching -OMIM:602046 PDIA3 skos:exactMatch ncbigene:2923 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch hgnc.symbol:RING1 semapv:UnspecifiedMatching OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:PDIA3 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch ncbigene:2923 semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch UMLS:C1418419 semapv:UnspecifiedMatching OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:PDE3B semapv:UnspecifiedMatching OMIM:602047 PDE3B skos:exactMatch ncbigene:5140 semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch UMLS:C1418419 semapv:UnspecifiedMatching -OMIM:602048 RAC1 skos:exactMatch ncbigene:5879 semapv:UnspecifiedMatching OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:RAC1 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C1419228 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:RAC2 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch ncbigene:5879 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch ncbigene:5880 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:RAC2 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C1419228 semapv:UnspecifiedMatching OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:RAC3 semapv:UnspecifiedMatching OMIM:602050 RAC3 skos:exactMatch ncbigene:5881 semapv:UnspecifiedMatching -OMIM:602051 PIN1L skos:exactMatch ncbigene:5301 semapv:UnspecifiedMatching OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:PIN1P1 semapv:UnspecifiedMatching -OMIM:602052 GAK skos:exactMatch hgnc.symbol:GAK semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch ncbigene:5301 semapv:UnspecifiedMatching OMIM:602052 GAK skos:exactMatch ncbigene:2580 semapv:UnspecifiedMatching -OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:KLF6 semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch hgnc.symbol:GAK semapv:UnspecifiedMatching OMIM:602053 KLF6 skos:exactMatch ncbigene:1316 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch ncbigene:6899 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:TBX1 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C1420603 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C4016770 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:KLF6 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch UMLS:C1416450 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:INSIG1 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C1420603 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C4016770 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:TBX1 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch ncbigene:6899 semapv:UnspecifiedMatching OMIM:602055 INSIG1 skos:exactMatch ncbigene:3638 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:INSIG1 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch UMLS:C1416450 semapv:UnspecifiedMatching OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:DEFB1 semapv:UnspecifiedMatching OMIM:602056 DEFB1 skos:exactMatch ncbigene:1672 semapv:UnspecifiedMatching -OMIM:602058 PI10 skos:exactMatch ncbigene:5273 semapv:UnspecifiedMatching OMIM:602058 PI10 skos:exactMatch hgnc.symbol:SERPINB10 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch ncbigene:5273 semapv:UnspecifiedMatching OMIM:602059 ISLR skos:exactMatch hgnc.symbol:ISLR semapv:UnspecifiedMatching OMIM:602059 ISLR skos:exactMatch ncbigene:3671 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch UMLS:C1336641 semapv:UnspecifiedMatching OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:TMPRSS2 semapv:UnspecifiedMatching OMIM:602060 TMPRSS2 skos:exactMatch ncbigene:7113 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch UMLS:C1336641 semapv:UnspecifiedMatching OMIM:602061 EREG skos:exactMatch hgnc.symbol:EREG semapv:UnspecifiedMatching OMIM:602061 EREG skos:exactMatch ncbigene:2069 semapv:UnspecifiedMatching -OMIM:602062 NINJ1 skos:exactMatch ncbigene:4814 semapv:UnspecifiedMatching OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:NINJ1 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch ncbigene:4814 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch ncbigene:6888 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching OMIM:602063 TALDO1 skos:exactMatch UMLS:C1420580 semapv:UnspecifiedMatching OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:TALDO1 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch ncbigene:6888 semapv:UnspecifiedMatching OMIM:602064 IMPA1 skos:exactMatch ncbigene:3612 semapv:UnspecifiedMatching OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:IMPA1 semapv:UnspecifiedMatching OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:ADARB2 semapv:UnspecifiedMatching @@ -13128,18 +13132,18 @@ OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:COX6A1 semapv:UnspecifiedMatching OMIM:602072 COX6A1 skos:exactMatch ncbigene:1337 semapv:UnspecifiedMatching OMIM:602074 DAP3 skos:exactMatch ncbigene:7818 semapv:UnspecifiedMatching OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:DAP3 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch ncbigene:6304 semapv:UnspecifiedMatching OMIM:602075 SATB1 skos:exactMatch UMLS:C1419822 semapv:UnspecifiedMatching OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:SATB1 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch ncbigene:6304 semapv:UnspecifiedMatching OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:TRPV1 semapv:UnspecifiedMatching OMIM:602076 TRPV1 skos:exactMatch ncbigene:7442 semapv:UnspecifiedMatching OMIM:602079 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching OMIM:602079 trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching OMIM:602080 paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching -OMIM:602081 speech-language disorder 1 skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching OMIM:602081 speech-language disorder 1 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching -OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:LTBP3 semapv:UnspecifiedMatching +OMIM:602081 speech-language disorder 1 skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching OMIM:602090 LTBP3 skos:exactMatch ncbigene:4054 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:LTBP3 semapv:UnspecifiedMatching OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:LTBP2 semapv:UnspecifiedMatching OMIM:602091 LTBP2 skos:exactMatch ncbigene:4053 semapv:UnspecifiedMatching OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching @@ -13148,8 +13152,8 @@ OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:SLC30A4 semapv:UnspecifiedMatchi OMIM:602095 SLC30A4 skos:exactMatch ncbigene:7782 semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch ncbigene:5347 semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:PLK1 semapv:UnspecifiedMatching -OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:PKNOX1 semapv:UnspecifiedMatching OMIM:602100 PKNOX1 skos:exactMatch ncbigene:5316 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:PKNOX1 semapv:UnspecifiedMatching OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:CLDN5 semapv:UnspecifiedMatching OMIM:602101 CLDN5 skos:exactMatch ncbigene:7122 semapv:UnspecifiedMatching OMIM:602102 SUPT5H skos:exactMatch UMLS:C0812268 semapv:UnspecifiedMatching @@ -13187,46 +13191,46 @@ OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:YEATS4 semapv:UnspecifiedMatching OMIM:602116 YEATS4 skos:exactMatch ncbigene:8089 semapv:UnspecifiedMatching OMIM:602117 NDN skos:exactMatch ncbigene:4692 semapv:UnspecifiedMatching OMIM:602117 NDN skos:exactMatch hgnc.symbol:NDN semapv:UnspecifiedMatching -OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:CHD1 semapv:UnspecifiedMatching OMIM:602118 CHD1 skos:exactMatch ncbigene:1105 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:CHD1 semapv:UnspecifiedMatching OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:CHD2 semapv:UnspecifiedMatching OMIM:602119 CHD2 skos:exactMatch ncbigene:1106 semapv:UnspecifiedMatching OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:CHD3 semapv:UnspecifiedMatching OMIM:602120 CHD3 skos:exactMatch ncbigene:1107 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:DIAPH1 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4479674 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch ncbigene:1729 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1414047 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4225261 semapv:UnspecifiedMatching -OMIM:602122 SRP72 skos:exactMatch ncbigene:6731 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4479674 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:DIAPH1 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch ncbigene:1729 semapv:UnspecifiedMatching OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:SRP72 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C1413102 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch ncbigene:6731 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:CAMK2G semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch ncbigene:818 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch hgnc.symbol:COX10 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C1413102 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch ncbigene:1352 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch hgnc.symbol:COX10 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:ZBTB14 semapv:UnspecifiedMatching OMIM:602126 ZBTB14 skos:exactMatch ncbigene:7541 semapv:UnspecifiedMatching OMIM:602127 SMTN skos:exactMatch hgnc.symbol:SMTN semapv:UnspecifiedMatching OMIM:602127 SMTN skos:exactMatch ncbigene:6525 semapv:UnspecifiedMatching OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:GAS2L1 semapv:UnspecifiedMatching OMIM:602128 GAS2L1 skos:exactMatch ncbigene:10634 semapv:UnspecifiedMatching -OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:MYO9B semapv:UnspecifiedMatching OMIM:602129 MYO9B skos:exactMatch ncbigene:4650 semapv:UnspecifiedMatching -OMIM:602130 MAPKAPK3 skos:exactMatch ncbigene:7867 semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:MYO9B semapv:UnspecifiedMatching OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:MAPKAPK3 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch ncbigene:7867 semapv:UnspecifiedMatching OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:PHLDA2 semapv:UnspecifiedMatching OMIM:602131 PHLDA2 skos:exactMatch ncbigene:7262 semapv:UnspecifiedMatching OMIM:602132 MIA2 skos:exactMatch UMLS:C1425512 semapv:UnspecifiedMatching OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:MIA2 semapv:UnspecifiedMatching OMIM:602132 MIA2 skos:exactMatch ncbigene:4253 semapv:UnspecifiedMatching -OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching OMIM:602133 PFAS skos:exactMatch ncbigene:5198 semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch ncbigene:7802 semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:DNALI1 semapv:UnspecifiedMatching OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:PEX1 semapv:UnspecifiedMatching @@ -13237,98 +13241,98 @@ OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:NDUFA2 semapv:UnspecifiedMatching OMIM:602137 NDUFA2 skos:exactMatch ncbigene:4695 semapv:UnspecifiedMatching OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:NDUFA6 semapv:UnspecifiedMatching OMIM:602138 NDUFA6 skos:exactMatch ncbigene:4700 semapv:UnspecifiedMatching -OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:NDUFA7 semapv:UnspecifiedMatching OMIM:602139 NDUFA7 skos:exactMatch ncbigene:4701 semapv:UnspecifiedMatching -OMIM:602140 NDUFB8 skos:exactMatch ncbigene:4714 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:NDUFA7 semapv:UnspecifiedMatching OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:NDUFB8 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch ncbigene:4714 semapv:UnspecifiedMatching OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:NDUFS8 semapv:UnspecifiedMatching OMIM:602141 NDUFS8 skos:exactMatch ncbigene:4728 semapv:UnspecifiedMatching OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:PLCD1 semapv:UnspecifiedMatching OMIM:602142 PLCD1 skos:exactMatch ncbigene:5333 semapv:UnspecifiedMatching OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:TP53BP2 semapv:UnspecifiedMatching OMIM:602143 TP53BP2 skos:exactMatch ncbigene:7159 semapv:UnspecifiedMatching -OMIM:602144 BRDT skos:exactMatch hgnc.symbol:BRDT semapv:UnspecifiedMatching OMIM:602144 BRDT skos:exactMatch ncbigene:676 semapv:UnspecifiedMatching -OMIM:602145 PA2G4 skos:exactMatch ncbigene:5036 semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch hgnc.symbol:BRDT semapv:UnspecifiedMatching OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:PA2G4 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch ncbigene:5036 semapv:UnspecifiedMatching OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:LHX4 semapv:UnspecifiedMatching OMIM:602146 LHX4 skos:exactMatch ncbigene:89884 semapv:UnspecifiedMatching OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:SOX1 semapv:UnspecifiedMatching OMIM:602148 SOX1 skos:exactMatch ncbigene:6656 semapv:UnspecifiedMatching OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:PITX1 semapv:UnspecifiedMatching OMIM:602149 PITX1 skos:exactMatch ncbigene:5307 semapv:UnspecifiedMatching -OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:SNAI2 semapv:UnspecifiedMatching OMIM:602150 SNAI2 skos:exactMatch ncbigene:6591 semapv:UnspecifiedMatching -OMIM:602151 DVL2 skos:exactMatch ncbigene:1856 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:SNAI2 semapv:UnspecifiedMatching OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:DVL2 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch ncbigene:1856 semapv:UnspecifiedMatching OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:KRT81 semapv:UnspecifiedMatching OMIM:602153 KRT81 skos:exactMatch ncbigene:3887 semapv:UnspecifiedMatching OMIM:602154 noncoding transcript 1n t cells skos:exactMatch ncbigene:7956 semapv:UnspecifiedMatching OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:UBXN8 semapv:UnspecifiedMatching OMIM:602155 UBXN8 skos:exactMatch ncbigene:7993 semapv:UnspecifiedMatching -OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:NOVA1 semapv:UnspecifiedMatching OMIM:602157 NOVA1 skos:exactMatch ncbigene:4857 semapv:UnspecifiedMatching -OMIM:602158 CLNS1A skos:exactMatch ncbigene:1207 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:NOVA1 semapv:UnspecifiedMatching OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:CLNS1A semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch ncbigene:1207 semapv:UnspecifiedMatching OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:CORO2A semapv:UnspecifiedMatching OMIM:602159 CORO2A skos:exactMatch ncbigene:7464 semapv:UnspecifiedMatching OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:TFDP2 semapv:UnspecifiedMatching OMIM:602160 TFDP2 skos:exactMatch ncbigene:7029 semapv:UnspecifiedMatching OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:PSME2 semapv:UnspecifiedMatching OMIM:602161 PSME2 skos:exactMatch ncbigene:5721 semapv:UnspecifiedMatching -OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:SYCP1 semapv:UnspecifiedMatching OMIM:602162 SYCP1 skos:exactMatch ncbigene:6847 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:SYCP1 semapv:UnspecifiedMatching OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:UBE2E2 semapv:UnspecifiedMatching OMIM:602163 UBE2E2 skos:exactMatch ncbigene:7325 semapv:UnspecifiedMatching OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:HTR4 semapv:UnspecifiedMatching OMIM:602164 HTR4 skos:exactMatch ncbigene:3360 semapv:UnspecifiedMatching -OMIM:602165 TRIM27 skos:exactMatch ncbigene:5987 semapv:UnspecifiedMatching OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:TRIM27 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch ncbigene:5987 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:AP3B2 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch ncbigene:8120 semapv:UnspecifiedMatching OMIM:602166 AP3B2 skos:exactMatch UMLS:C1412447 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch ncbigene:8120 semapv:UnspecifiedMatching OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:ESRRB semapv:UnspecifiedMatching OMIM:602167 ESRRB skos:exactMatch ncbigene:2103 semapv:UnspecifiedMatching OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:VRK1 semapv:UnspecifiedMatching OMIM:602168 VRK1 skos:exactMatch ncbigene:7443 semapv:UnspecifiedMatching -OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:VRK2 semapv:UnspecifiedMatching OMIM:602169 VRK2 skos:exactMatch ncbigene:7444 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch ncbigene:4615 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:VRK2 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:MYD88 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch ncbigene:4615 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch UMLS:C3549870 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch UMLS:C1417530 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch UMLS:C3549870 semapv:UnspecifiedMatching OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:GPA33 semapv:UnspecifiedMatching OMIM:602171 GPA33 skos:exactMatch ncbigene:10223 semapv:UnspecifiedMatching OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:CYP8B1 semapv:UnspecifiedMatching OMIM:602172 CYP8B1 skos:exactMatch ncbigene:1582 semapv:UnspecifiedMatching -OMIM:602173 SEC62 skos:exactMatch ncbigene:7095 semapv:UnspecifiedMatching OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:SEC62 semapv:UnspecifiedMatching -OMIM:602174 GPR25 skos:exactMatch ncbigene:2848 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch ncbigene:7095 semapv:UnspecifiedMatching OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:GPR25 semapv:UnspecifiedMatching -OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:PSMB2 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch ncbigene:2848 semapv:UnspecifiedMatching OMIM:602175 PSMB2 skos:exactMatch ncbigene:5690 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:PSMB2 semapv:UnspecifiedMatching OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:PSMB3 semapv:UnspecifiedMatching OMIM:602176 PSMB3 skos:exactMatch ncbigene:5691 semapv:UnspecifiedMatching OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:PSMB4 semapv:UnspecifiedMatching OMIM:602177 PSMB4 skos:exactMatch ncbigene:5692 semapv:UnspecifiedMatching OMIM:602178 CHAD skos:exactMatch hgnc.symbol:CHAD semapv:UnspecifiedMatching OMIM:602178 CHAD skos:exactMatch ncbigene:1101 semapv:UnspecifiedMatching -OMIM:602179 HSPB2 skos:exactMatch ncbigene:3316 semapv:UnspecifiedMatching OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:HSPB2 semapv:UnspecifiedMatching -OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:SIPA1 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch ncbigene:3316 semapv:UnspecifiedMatching OMIM:602180 SIPA1 skos:exactMatch ncbigene:6494 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:SIPA1 semapv:UnspecifiedMatching OMIM:602181 SND1 skos:exactMatch hgnc.symbol:SND1 semapv:UnspecifiedMatching OMIM:602181 SND1 skos:exactMatch ncbigene:27044 semapv:UnspecifiedMatching OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:ENPP3 semapv:UnspecifiedMatching OMIM:602182 ENPP3 skos:exactMatch ncbigene:5169 semapv:UnspecifiedMatching OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:NKX3-2 semapv:UnspecifiedMatching OMIM:602183 NKX3-2 skos:exactMatch ncbigene:579 semapv:UnspecifiedMatching -OMIM:602184 NDUFV3 skos:exactMatch ncbigene:4731 semapv:UnspecifiedMatching OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:NDUFV3 semapv:UnspecifiedMatching -OMIM:602186 VGF skos:exactMatch hgnc.symbol:VGF semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch ncbigene:4731 semapv:UnspecifiedMatching OMIM:602186 VGF skos:exactMatch ncbigene:7425 semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch hgnc.symbol:VGF semapv:UnspecifiedMatching OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:ZNF195 semapv:UnspecifiedMatching OMIM:602187 ZNF195 skos:exactMatch ncbigene:7748 semapv:UnspecifiedMatching OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:EPHA4 semapv:UnspecifiedMatching @@ -13337,19 +13341,19 @@ OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:RGS3 semapv:UnspecifiedMatching OMIM:602189 RGS3 skos:exactMatch ncbigene:5998 semapv:UnspecifiedMatching OMIM:602190 EPHA7 skos:exactMatch ncbigene:2045 semapv:UnspecifiedMatching OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:EPHA7 semapv:UnspecifiedMatching -OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:ELF3 semapv:UnspecifiedMatching OMIM:602191 ELF3 skos:exactMatch ncbigene:1999 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:ELF3 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C0406811 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C1412181 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C4016772 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:ADAM10 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch ncbigene:102 semapv:UnspecifiedMatching -OMIM:602193 SLC29A1 skos:exactMatch ncbigene:2030 semapv:UnspecifiedMatching OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:SLC29A1 semapv:UnspecifiedMatching -OMIM:602194 HTRA1 skos:exactMatch ncbigene:5654 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch ncbigene:2030 semapv:UnspecifiedMatching OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:HTRA1 semapv:UnspecifiedMatching -OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:HSPB1 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch ncbigene:5654 semapv:UnspecifiedMatching OMIM:602195 HSPB1 skos:exactMatch ncbigene:3315 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:HSPB1 semapv:UnspecifiedMatching OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:CDK2AP1 semapv:UnspecifiedMatching OMIM:602198 CDK2AP1 skos:exactMatch ncbigene:8099 semapv:UnspecifiedMatching OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:ECM1 semapv:UnspecifiedMatching @@ -13358,16 +13362,16 @@ OMIM:602202 DDOST skos:exactMatch hgnc.symbol:DDOST semapv:UnspecifiedMatching OMIM:602202 DDOST skos:exactMatch ncbigene:1650 semapv:UnspecifiedMatching OMIM:602203 SLN skos:exactMatch hgnc.symbol:SLN semapv:UnspecifiedMatching OMIM:602203 SLN skos:exactMatch ncbigene:6588 semapv:UnspecifiedMatching -OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:BICD1 semapv:UnspecifiedMatching OMIM:602204 BICD1 skos:exactMatch ncbigene:636 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:BICD1 semapv:UnspecifiedMatching OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:RAB17 semapv:UnspecifiedMatching OMIM:602206 RAB17 skos:exactMatch ncbigene:64284 semapv:UnspecifiedMatching OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:RAB18 semapv:UnspecifiedMatching OMIM:602207 RAB18 skos:exactMatch ncbigene:22931 semapv:UnspecifiedMatching -OMIM:602208 KCNJ10 skos:exactMatch ncbigene:3766 semapv:UnspecifiedMatching OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:KCNJ10 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch ncbigene:6239 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch ncbigene:3766 semapv:UnspecifiedMatching OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:RREB1 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch ncbigene:6239 semapv:UnspecifiedMatching OMIM:602209 RREB1 skos:exactMatch UMLS:C1419758 semapv:UnspecifiedMatching OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:EIF3E semapv:UnspecifiedMatching OMIM:602210 EIF3E skos:exactMatch ncbigene:3646 semapv:UnspecifiedMatching @@ -13376,26 +13380,26 @@ OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:FOXD2 semapv:UnspecifiedMatching OMIM:602211 FOXD2 skos:exactMatch ncbigene:2306 semapv:UnspecifiedMatching OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:SIAH1 semapv:UnspecifiedMatching OMIM:602212 SIAH1 skos:exactMatch ncbigene:6477 semapv:UnspecifiedMatching -OMIM:602213 SIAH2 skos:exactMatch ncbigene:6478 semapv:UnspecifiedMatching OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:SIAH2 semapv:UnspecifiedMatching -OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:CSNK1G2 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch ncbigene:6478 semapv:UnspecifiedMatching OMIM:602214 CSNK1G2 skos:exactMatch ncbigene:1455 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:CSNK1G2 semapv:UnspecifiedMatching OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:DEFB4A semapv:UnspecifiedMatching OMIM:602215 DEFB4A skos:exactMatch ncbigene:1673 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch ncbigene:6794 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4016776 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch hgnc.symbol:STK11 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4016776 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C0694883 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:SDCBP semapv:UnspecifiedMatching OMIM:602217 SDCBP skos:exactMatch ncbigene:6386 semapv:UnspecifiedMatching OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:SALL1 semapv:UnspecifiedMatching OMIM:602218 SALL1 skos:exactMatch ncbigene:6299 semapv:UnspecifiedMatching -OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:SALL2 semapv:UnspecifiedMatching OMIM:602219 SALL2 skos:exactMatch ncbigene:6297 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:SALL2 semapv:UnspecifiedMatching OMIM:602220 RASL10A skos:exactMatch ncbigene:10633 semapv:UnspecifiedMatching OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:RASL10A semapv:UnspecifiedMatching OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:ZMYM2 semapv:UnspecifiedMatching @@ -13406,10 +13410,10 @@ OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:EIF4EBP2 semapv:UnspecifiedMatc OMIM:602224 EIF4EBP2 skos:exactMatch ncbigene:1979 semapv:UnspecifiedMatching OMIM:602225 CRX skos:exactMatch hgnc.symbol:CRX semapv:UnspecifiedMatching OMIM:602225 CRX skos:exactMatch ncbigene:1406 semapv:UnspecifiedMatching -OMIM:602226 CD180 skos:exactMatch ncbigene:4064 semapv:UnspecifiedMatching OMIM:602226 CD180 skos:exactMatch hgnc.symbol:CD180 semapv:UnspecifiedMatching -OMIM:602227 CCL19 skos:exactMatch ncbigene:6363 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch ncbigene:4064 semapv:UnspecifiedMatching OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:CCL19 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch ncbigene:6363 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch UMLS:C1420644 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:TCF7L2 semapv:UnspecifiedMatching @@ -13419,8 +13423,8 @@ OMIM:602229 SOX10 skos:exactMatch UMLS:C4016778 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:SOX10 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C1420317 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C2748472 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C1420317 semapv:UnspecifiedMatching OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:SH3BGR semapv:UnspecifiedMatching OMIM:602230 SH3BGR skos:exactMatch ncbigene:6450 semapv:UnspecifiedMatching OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:SUMO3 semapv:UnspecifiedMatching @@ -13429,41 +13433,41 @@ OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:KCNQ3 semapv:UnspecifiedMatching OMIM:602232 KCNQ3 skos:exactMatch ncbigene:3786 semapv:UnspecifiedMatching OMIM:602233 APAF1 skos:exactMatch ncbigene:317 semapv:UnspecifiedMatching OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:APAF1 semapv:UnspecifiedMatching -OMIM:602234 CASP9 skos:exactMatch ncbigene:842 semapv:UnspecifiedMatching OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:CASP9 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch ncbigene:842 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C1416614 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149075 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:KCNQ2 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch ncbigene:3785 semapv:UnspecifiedMatching -OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:EXOSC2 semapv:UnspecifiedMatching OMIM:602238 EXOSC2 skos:exactMatch ncbigene:23404 semapv:UnspecifiedMatching -OMIM:602239 CYP26A1 skos:exactMatch ncbigene:1592 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:EXOSC2 semapv:UnspecifiedMatching OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:CYP26A1 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch ncbigene:1592 semapv:UnspecifiedMatching OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:ZKSCAN8 semapv:UnspecifiedMatching OMIM:602240 ZNF192 skos:exactMatch ncbigene:7745 semapv:UnspecifiedMatching OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:MIPEP semapv:UnspecifiedMatching OMIM:602241 MIPEP skos:exactMatch ncbigene:4285 semapv:UnspecifiedMatching OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:AP2S1 semapv:UnspecifiedMatching OMIM:602242 AP2S1 skos:exactMatch ncbigene:1175 semapv:UnspecifiedMatching -OMIM:602243 CD151 skos:exactMatch hgnc.symbol:CD151 semapv:UnspecifiedMatching OMIM:602243 CD151 skos:exactMatch ncbigene:977 semapv:UnspecifiedMatching -OMIM:602244 DNASE1L3 skos:exactMatch ncbigene:1776 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch hgnc.symbol:CD151 semapv:UnspecifiedMatching OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:DNASE1L3 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch ncbigene:1776 semapv:UnspecifiedMatching OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:GTPBP1 semapv:UnspecifiedMatching OMIM:602245 GTPBP1 skos:exactMatch ncbigene:9567 semapv:UnspecifiedMatching OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:ZSCAN9 semapv:UnspecifiedMatching OMIM:602246 ZNF193 skos:exactMatch ncbigene:7746 semapv:UnspecifiedMatching OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:TNFRSF9 semapv:UnspecifiedMatching OMIM:602250 TNFRSF9 skos:exactMatch ncbigene:3604 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch UMLS:C1420738 semapv:UnspecifiedMatching OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:TIMM10 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch UMLS:C1420738 semapv:UnspecifiedMatching OMIM:602251 TIMM10 skos:exactMatch ncbigene:26519 semapv:UnspecifiedMatching -OMIM:602253 KLF4 skos:exactMatch ncbigene:9314 semapv:UnspecifiedMatching OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:KLF4 semapv:UnspecifiedMatching -OMIM:602254 SRRD skos:exactMatch hgnc.symbol:SRRD semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch ncbigene:9314 semapv:UnspecifiedMatching OMIM:602254 SRRD skos:exactMatch ncbigene:402055 semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch hgnc.symbol:SRRD semapv:UnspecifiedMatching OMIM:602255 STK25 skos:exactMatch hgnc.symbol:STK25 semapv:UnspecifiedMatching OMIM:602255 STK25 skos:exactMatch ncbigene:10494 semapv:UnspecifiedMatching OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:PPEF2 semapv:UnspecifiedMatching @@ -13478,10 +13482,10 @@ OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:MMP15 semapv:UnspecifiedMatching OMIM:602261 MMP15 skos:exactMatch ncbigene:4324 semapv:UnspecifiedMatching OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:MMP16 semapv:UnspecifiedMatching OMIM:602262 MMP16 skos:exactMatch ncbigene:4325 semapv:UnspecifiedMatching -OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:SPOCK1 semapv:UnspecifiedMatching OMIM:602264 SPOCK1 skos:exactMatch ncbigene:6695 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch ncbigene:4739 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:SPOCK1 semapv:UnspecifiedMatching OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:NEDD9 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch ncbigene:4739 semapv:UnspecifiedMatching OMIM:602265 NEDD9 skos:exactMatch UMLS:C1417664 semapv:UnspecifiedMatching OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:ADAM8 semapv:UnspecifiedMatching OMIM:602267 ADAM8 skos:exactMatch ncbigene:101 semapv:UnspecifiedMatching @@ -13500,10 +13504,10 @@ OMIM:602274 GALNT2 skos:exactMatch UMLS:C1414952 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:GALNT2 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch ncbigene:2590 semapv:UnspecifiedMatching -OMIM:602275 GUCA1B skos:exactMatch ncbigene:2979 semapv:UnspecifiedMatching OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:GUCA1B semapv:UnspecifiedMatching -OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:TADA2A semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch ncbigene:2979 semapv:UnspecifiedMatching OMIM:602276 TADA2A skos:exactMatch ncbigene:6871 semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:TADA2A semapv:UnspecifiedMatching OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:ZNF184 semapv:UnspecifiedMatching OMIM:602277 ZNF184 skos:exactMatch ncbigene:7738 semapv:UnspecifiedMatching OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:NEDD4 semapv:UnspecifiedMatching @@ -13512,9 +13516,9 @@ OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:PABPN1 semapv:UnspecifiedMatching OMIM:602279 PABPN1 skos:exactMatch ncbigene:8106 semapv:UnspecifiedMatching OMIM:602280 TULP1 skos:exactMatch ncbigene:7287 semapv:UnspecifiedMatching OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:TULP1 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch UMLS:C1334502 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:MFGE8 semapv:UnspecifiedMatching OMIM:602281 MFGE8 skos:exactMatch ncbigene:4240 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:MFGE8 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch UMLS:C1334502 semapv:UnspecifiedMatching OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:LPAR1 semapv:UnspecifiedMatching OMIM:602282 LPAR1 skos:exactMatch ncbigene:1902 semapv:UnspecifiedMatching OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:CCL8 semapv:UnspecifiedMatching @@ -13523,59 +13527,59 @@ OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:BMP8B semapv:UnspecifiedMatching OMIM:602284 BMP8B skos:exactMatch ncbigene:656 semapv:UnspecifiedMatching OMIM:602285 MMP17 skos:exactMatch ncbigene:4326 semapv:UnspecifiedMatching OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:MMP17 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch ncbigene:6309 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch hgnc.symbol:SC5D semapv:UnspecifiedMatching OMIM:602286 SC5D skos:exactMatch UMLS:C1419827 semapv:UnspecifiedMatching OMIM:602286 SC5D skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch hgnc.symbol:SC5D semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch ncbigene:6309 semapv:UnspecifiedMatching OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:ERP29 semapv:UnspecifiedMatching OMIM:602287 ERP29 skos:exactMatch ncbigene:10961 semapv:UnspecifiedMatching -OMIM:602288 RTKN skos:exactMatch ncbigene:6242 semapv:UnspecifiedMatching OMIM:602288 RTKN skos:exactMatch hgnc.symbol:RTKN semapv:UnspecifiedMatching -OMIM:602289 DRAP1 skos:exactMatch ncbigene:10589 semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch ncbigene:6242 semapv:UnspecifiedMatching OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:DRAP1 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch ncbigene:10589 semapv:UnspecifiedMatching OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:TRIM32 semapv:UnspecifiedMatching OMIM:602290 TRIM32 skos:exactMatch ncbigene:22954 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch ncbigene:2302 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C1414683 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231528 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231529 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:FOXJ1 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch ncbigene:2302 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch ncbigene:1892 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:ECHS1 semapv:UnspecifiedMatching OMIM:602292 ECHS1 skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:ECHS1 semapv:UnspecifiedMatching OMIM:602292 ECHS1 skos:exactMatch UMLS:C1414247 semapv:UnspecifiedMatching -OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:CIB1 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch ncbigene:1892 semapv:UnspecifiedMatching OMIM:602293 CIB1 skos:exactMatch ncbigene:10519 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:CIB1 semapv:UnspecifiedMatching OMIM:602294 FOXA1 skos:exactMatch UMLS:C1415626 semapv:UnspecifiedMatching OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:FOXA1 semapv:UnspecifiedMatching OMIM:602294 FOXA1 skos:exactMatch ncbigene:3169 semapv:UnspecifiedMatching OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:FOXA3 semapv:UnspecifiedMatching OMIM:602295 FOXA3 skos:exactMatch ncbigene:3171 semapv:UnspecifiedMatching -OMIM:602296 AP4M1 skos:exactMatch ncbigene:9179 semapv:UnspecifiedMatching OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:AP4M1 semapv:UnspecifiedMatching -OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:EFNB3 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch ncbigene:9179 semapv:UnspecifiedMatching OMIM:602297 EFNB3 skos:exactMatch ncbigene:1949 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:EFNB3 semapv:UnspecifiedMatching OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:RAB7A semapv:UnspecifiedMatching OMIM:602298 RAB7 skos:exactMatch ncbigene:7879 semapv:UnspecifiedMatching OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:GAL3ST1 semapv:UnspecifiedMatching OMIM:602300 GAL3ST1 skos:exactMatch ncbigene:9514 semapv:UnspecifiedMatching OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:KAT2A semapv:UnspecifiedMatching OMIM:602301 KAT2A skos:exactMatch ncbigene:2648 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch ncbigene:55806 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch hgnc.symbol:HR semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch ncbigene:55806 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C1415713 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching -OMIM:602303 KAT2B skos:exactMatch ncbigene:8850 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C1415713 semapv:UnspecifiedMatching OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:KAT2B semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch ncbigene:8850 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch UMLS:C1417822 semapv:UnspecifiedMatching OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:NR1D2 semapv:UnspecifiedMatching OMIM:602304 NR1D2 skos:exactMatch ncbigene:9975 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch UMLS:C1417822 semapv:UnspecifiedMatching -OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:RGL2 semapv:UnspecifiedMatching OMIM:602306 RGL2 skos:exactMatch ncbigene:5863 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:RGL2 semapv:UnspecifiedMatching OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:WWP1 semapv:UnspecifiedMatching OMIM:602307 WWP1 skos:exactMatch ncbigene:11059 semapv:UnspecifiedMatching OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:WWP2 semapv:UnspecifiedMatching @@ -13583,41 +13587,41 @@ OMIM:602308 WWP2 skos:exactMatch ncbigene:11060 semapv:UnspecifiedMatching OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:TULP2 semapv:UnspecifiedMatching OMIM:602309 TULP2 skos:exactMatch ncbigene:7288 semapv:UnspecifiedMatching OMIM:602310 RBMS1 skos:exactMatch ncbigene:5937 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:RBMS1 semapv:UnspecifiedMatching OMIM:602310 RBMS1 skos:exactMatch UMLS:C1419305 semapv:UnspecifiedMatching -OMIM:602311 AGRP skos:exactMatch hgnc.symbol:AGRP semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:RBMS1 semapv:UnspecifiedMatching OMIM:602311 AGRP skos:exactMatch ncbigene:181 semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch hgnc.symbol:AGRP semapv:UnspecifiedMatching OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:OVOL1 semapv:UnspecifiedMatching OMIM:602313 OVOL1 skos:exactMatch ncbigene:5017 semapv:UnspecifiedMatching OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:LAD1 semapv:UnspecifiedMatching OMIM:602314 LAD1 skos:exactMatch ncbigene:3898 semapv:UnspecifiedMatching OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:MAP2K3 semapv:UnspecifiedMatching OMIM:602315 MAP2K3 skos:exactMatch ncbigene:5606 semapv:UnspecifiedMatching -OMIM:602316 PRDX6 skos:exactMatch ncbigene:9588 semapv:UnspecifiedMatching OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:PRDX6 semapv:UnspecifiedMatching -OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:STAC semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch ncbigene:9588 semapv:UnspecifiedMatching OMIM:602317 STAC1 skos:exactMatch ncbigene:6769 semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:STAC semapv:UnspecifiedMatching OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:MTERF1 semapv:UnspecifiedMatching OMIM:602318 MTERF1 skos:exactMatch ncbigene:7978 semapv:UnspecifiedMatching OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:NELL1 semapv:UnspecifiedMatching OMIM:602319 NELL1 skos:exactMatch ncbigene:4745 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch UMLS:C1417677 semapv:UnspecifiedMatching OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:NELL2 semapv:UnspecifiedMatching OMIM:602320 NELL2 skos:exactMatch ncbigene:4753 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch UMLS:C1417677 semapv:UnspecifiedMatching -OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:GSTK1 semapv:UnspecifiedMatching OMIM:602321 GSTK1 skos:exactMatch ncbigene:373156 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:GSTK1 semapv:UnspecifiedMatching OMIM:602322 TERC skos:exactMatch hgnc.symbol:TERC semapv:UnspecifiedMatching OMIM:602322 TERC skos:exactMatch ncbigene:7012 semapv:UnspecifiedMatching OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:KCNJ12 semapv:UnspecifiedMatching OMIM:602323 KCNJ12 skos:exactMatch ncbigene:3768 semapv:UnspecifiedMatching OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:HNRNPH3 semapv:UnspecifiedMatching OMIM:602324 HNRNPH3 skos:exactMatch ncbigene:3189 semapv:UnspecifiedMatching -OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:EIF4G2 semapv:UnspecifiedMatching OMIM:602325 EIF4G2 skos:exactMatch ncbigene:1982 semapv:UnspecifiedMatching -OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:RPL23A semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:EIF4G2 semapv:UnspecifiedMatching OMIM:602326 RPL23A skos:exactMatch ncbigene:6147 semapv:UnspecifiedMatching -OMIM:602327 PSD skos:exactMatch ncbigene:5662 semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:RPL23A semapv:UnspecifiedMatching OMIM:602327 PSD skos:exactMatch hgnc.symbol:PSD semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch ncbigene:5662 semapv:UnspecifiedMatching OMIM:602329 SEL1L skos:exactMatch UMLS:C1419939 semapv:UnspecifiedMatching OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:SEL1L semapv:UnspecifiedMatching OMIM:602329 SEL1L skos:exactMatch ncbigene:6400 semapv:UnspecifiedMatching @@ -13625,101 +13629,101 @@ OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:ABLIM1 semapv:UnspecifiedMatching OMIM:602330 ABLIM1 skos:exactMatch ncbigene:3983 semapv:UnspecifiedMatching OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:ORC5 semapv:UnspecifiedMatching OMIM:602331 ORC5 skos:exactMatch ncbigene:5001 semapv:UnspecifiedMatching -OMIM:602332 NCAPH skos:exactMatch ncbigene:23397 semapv:UnspecifiedMatching OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:NCAPH semapv:UnspecifiedMatching -OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:EMP1 semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch ncbigene:23397 semapv:UnspecifiedMatching OMIM:602333 EMP1 skos:exactMatch ncbigene:2012 semapv:UnspecifiedMatching -OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:EMP2 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:EMP1 semapv:UnspecifiedMatching OMIM:602334 EMP2 skos:exactMatch ncbigene:2013 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:EMP2 semapv:UnspecifiedMatching OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:EMP3 semapv:UnspecifiedMatching OMIM:602335 EMP3 skos:exactMatch ncbigene:2014 semapv:UnspecifiedMatching OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:ROR1 semapv:UnspecifiedMatching OMIM:602336 ROR1 skos:exactMatch ncbigene:4919 semapv:UnspecifiedMatching -OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:ROR2 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching OMIM:602338 PRPF4B skos:exactMatch hgnc.symbol:PRPF4B semapv:UnspecifiedMatching OMIM:602338 PRPF4B skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:SLC15A2 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch ncbigene:6565 semapv:UnspecifiedMatching -OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:FOXM1 semapv:UnspecifiedMatching OMIM:602341 FOXM1 skos:exactMatch ncbigene:2305 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:FOXM1 semapv:UnspecifiedMatching OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:TRPC1 semapv:UnspecifiedMatching OMIM:602343 TRPC1 skos:exactMatch ncbigene:7220 semapv:UnspecifiedMatching -OMIM:602344 PAFAH2 skos:exactMatch ncbigene:5051 semapv:UnspecifiedMatching OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:PAFAH2 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch ncbigene:5051 semapv:UnspecifiedMatching OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:TRPC3 semapv:UnspecifiedMatching OMIM:602345 TRPC3 skos:exactMatch ncbigene:7222 semapv:UnspecifiedMatching OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:CNTNAP1 semapv:UnspecifiedMatching OMIM:602346 CNTNAP1 skos:exactMatch ncbigene:8506 semapv:UnspecifiedMatching -OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:SNAPC3 semapv:UnspecifiedMatching OMIM:602348 SNAPC3 skos:exactMatch ncbigene:6619 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:SNAPC3 semapv:UnspecifiedMatching OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:NTN3 semapv:UnspecifiedMatching OMIM:602349 NTN3 skos:exactMatch ncbigene:4917 semapv:UnspecifiedMatching OMIM:602350 NRGN skos:exactMatch hgnc.symbol:NRGN semapv:UnspecifiedMatching OMIM:602350 NRGN skos:exactMatch ncbigene:4900 semapv:UnspecifiedMatching -OMIM:602351 CMKLR1 skos:exactMatch ncbigene:1240 semapv:UnspecifiedMatching OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:CMKLR1 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch ncbigene:1240 semapv:UnspecifiedMatching OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:GNRH2 semapv:UnspecifiedMatching OMIM:602352 GNRH2 skos:exactMatch ncbigene:2797 semapv:UnspecifiedMatching -OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:TGFB1I1 semapv:UnspecifiedMatching OMIM:602353 TGFB1I1 skos:exactMatch ncbigene:7041 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:TGFB1I1 semapv:UnspecifiedMatching OMIM:602354 LAT skos:exactMatch hgnc.symbol:LAT semapv:UnspecifiedMatching OMIM:602354 LAT skos:exactMatch ncbigene:27040 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:TRAF6 semapv:UnspecifiedMatching OMIM:602355 TRAF6 skos:exactMatch UMLS:C1336666 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:TRAF6 semapv:UnspecifiedMatching OMIM:602355 TRAF6 skos:exactMatch ncbigene:7189 semapv:UnspecifiedMatching -OMIM:602356 TRAF5 skos:exactMatch ncbigene:7188 semapv:UnspecifiedMatching OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:TRAF5 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch ncbigene:7188 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch ncbigene:7456 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:WIPF1 semapv:UnspecifiedMatching OMIM:602357 WIPF1 skos:exactMatch UMLS:C1823857 semapv:UnspecifiedMatching OMIM:602357 WIPF1 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:WIPF1 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch ncbigene:7456 semapv:UnspecifiedMatching OMIM:602358 HCRT skos:exactMatch hgnc.symbol:HCRT semapv:UnspecifiedMatching OMIM:602358 HCRT skos:exactMatch ncbigene:3060 semapv:UnspecifiedMatching -OMIM:602359 FXYD1 skos:exactMatch ncbigene:5348 semapv:UnspecifiedMatching OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:FXYD1 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch ncbigene:5348 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch ncbigene:2628 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch hgnc.symbol:GATM semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch UMLS:C1414997 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:RANGAP1 semapv:UnspecifiedMatching OMIM:602362 RANGAP1 skos:exactMatch ncbigene:5905 semapv:UnspecifiedMatching OMIM:602364 CTSW skos:exactMatch hgnc.symbol:CTSW semapv:UnspecifiedMatching OMIM:602364 CTSW skos:exactMatch ncbigene:1521 semapv:UnspecifiedMatching OMIM:602365 CTSC skos:exactMatch hgnc.symbol:CTSC semapv:UnspecifiedMatching OMIM:602365 CTSC skos:exactMatch ncbigene:1075 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch ncbigene:3611 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch hgnc.symbol:ILK semapv:UnspecifiedMatching OMIM:602366 ILK skos:exactMatch UMLS:C1334128 semapv:UnspecifiedMatching OMIM:602366 ILK skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch hgnc.symbol:ILK semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch ncbigene:3611 semapv:UnspecifiedMatching OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:NPTX1 semapv:UnspecifiedMatching OMIM:602367 NPTX1 skos:exactMatch ncbigene:4884 semapv:UnspecifiedMatching OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:GRID2 semapv:UnspecifiedMatching OMIM:602368 GRID2 skos:exactMatch ncbigene:2895 semapv:UnspecifiedMatching -OMIM:602369 CCN1 skos:exactMatch ncbigene:3491 semapv:UnspecifiedMatching OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:CCN1 semapv:UnspecifiedMatching -OMIM:602370 GML skos:exactMatch ncbigene:2765 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch ncbigene:3491 semapv:UnspecifiedMatching OMIM:602370 GML skos:exactMatch hgnc.symbol:GML semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch ncbigene:2765 semapv:UnspecifiedMatching OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:ACSL3 semapv:UnspecifiedMatching OMIM:602371 ACSL3 skos:exactMatch ncbigene:2181 semapv:UnspecifiedMatching OMIM:602372 ZAN skos:exactMatch hgnc.symbol:ZAN semapv:UnspecifiedMatching OMIM:602372 ZAN skos:exactMatch ncbigene:7455 semapv:UnspecifiedMatching OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:CNN2 semapv:UnspecifiedMatching OMIM:602373 CNN2 skos:exactMatch ncbigene:1265 semapv:UnspecifiedMatching -OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:CNN3 semapv:UnspecifiedMatching OMIM:602374 CNN3 skos:exactMatch ncbigene:1266 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch ncbigene:6182 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:CNN3 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:MRPL12 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch ncbigene:6182 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch UMLS:C1419694 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch ncbigene:3455 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1334082 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C4225252 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:IFNAR2 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch ncbigene:1759 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch ncbigene:3455 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:DNM1 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch ncbigene:1759 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch UMLS:C1414118 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C1414120 semapv:UnspecifiedMatching @@ -13728,10 +13732,10 @@ OMIM:602378 DNM2 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:DNM2 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch ncbigene:1785 semapv:UnspecifiedMatching -OMIM:602380 UPK1B skos:exactMatch ncbigene:7348 semapv:UnspecifiedMatching OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:UPK1B semapv:UnspecifiedMatching -OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:NAB2 semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch ncbigene:7348 semapv:UnspecifiedMatching OMIM:602381 NAB2 skos:exactMatch ncbigene:4665 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:NAB2 semapv:UnspecifiedMatching OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:PLD1 semapv:UnspecifiedMatching OMIM:602382 PLD1 skos:exactMatch ncbigene:5337 semapv:UnspecifiedMatching OMIM:602383 OGN skos:exactMatch hgnc.symbol:OGN semapv:UnspecifiedMatching @@ -13750,42 +13754,42 @@ OMIM:602389 TUFM skos:exactMatch hgnc.symbol:TUFM semapv:UnspecifiedMatching OMIM:602389 TUFM skos:exactMatch ncbigene:7284 semapv:UnspecifiedMatching OMIM:602391 PEMT skos:exactMatch hgnc.symbol:PEMT semapv:UnspecifiedMatching OMIM:602391 PEMT skos:exactMatch ncbigene:10400 semapv:UnspecifiedMatching -OMIM:602392 HCRTR1 skos:exactMatch ncbigene:3061 semapv:UnspecifiedMatching OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:HCRTR1 semapv:UnspecifiedMatching -OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:HCRTR2 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch ncbigene:3061 semapv:UnspecifiedMatching OMIM:602393 HCRTR2 skos:exactMatch ncbigene:3062 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:HCRTR2 semapv:UnspecifiedMatching OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:NOLC1 semapv:UnspecifiedMatching OMIM:602394 NOLC1 skos:exactMatch ncbigene:9221 semapv:UnspecifiedMatching OMIM:602395 GPAM skos:exactMatch hgnc.symbol:GPAM semapv:UnspecifiedMatching OMIM:602395 GPAM skos:exactMatch ncbigene:57678 semapv:UnspecifiedMatching OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:ANXA8 semapv:UnspecifiedMatching OMIM:602396 ANXA8 skos:exactMatch ncbigene:653145 semapv:UnspecifiedMatching -OMIM:602397 ATP8B1 skos:exactMatch ncbigene:5205 semapv:UnspecifiedMatching OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:ATP8B1 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch UMLS:C1366897 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch ncbigene:5205 semapv:UnspecifiedMatching OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:MAPK12 semapv:UnspecifiedMatching OMIM:602399 MAPK12 skos:exactMatch ncbigene:6300 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch UMLS:C1366897 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:FOXC2 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch ncbigene:2303 semapv:UnspecifiedMatching OMIM:602403 BLMH skos:exactMatch hgnc.symbol:BLMH semapv:UnspecifiedMatching OMIM:602403 BLMH skos:exactMatch ncbigene:642 semapv:UnspecifiedMatching -OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:HAND1 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch ncbigene:9464 semapv:UnspecifiedMatching OMIM:602407 HAND2 skos:exactMatch UMLS:C1415467 semapv:UnspecifiedMatching OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:HAND2 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch ncbigene:9464 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch ncbigene:9572 semapv:UnspecifiedMatching OMIM:602408 NR1D1 skos:exactMatch UMLS:C1417821 semapv:UnspecifiedMatching OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:NR1D1 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch ncbigene:9572 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:MLLT10 semapv:UnspecifiedMatching OMIM:602409 MLLT10 skos:exactMatch UMLS:C1423947 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:MLLT10 semapv:UnspecifiedMatching OMIM:602409 MLLT10 skos:exactMatch ncbigene:8028 semapv:UnspecifiedMatching -OMIM:602410 BRPF1 skos:exactMatch ncbigene:7862 semapv:UnspecifiedMatching OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:BRPF1 semapv:UnspecifiedMatching -OMIM:602411 EXTL2 skos:exactMatch ncbigene:2135 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch ncbigene:7862 semapv:UnspecifiedMatching OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:EXTL2 semapv:UnspecifiedMatching -OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:RPS24 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch ncbigene:2135 semapv:UnspecifiedMatching OMIM:602412 RPS24 skos:exactMatch ncbigene:6229 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:RPS24 semapv:UnspecifiedMatching OMIM:602413 SDHC skos:exactMatch hgnc.symbol:SDHC semapv:UnspecifiedMatching OMIM:602413 SDHC skos:exactMatch ncbigene:6391 semapv:UnspecifiedMatching OMIM:602414 APBA1 skos:exactMatch UMLS:C1412456 semapv:UnspecifiedMatching @@ -13793,8 +13797,8 @@ OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:APBA1 semapv:UnspecifiedMatching OMIM:602414 APBA1 skos:exactMatch ncbigene:320 semapv:UnspecifiedMatching OMIM:602415 DTNB skos:exactMatch hgnc.symbol:DTNB semapv:UnspecifiedMatching OMIM:602415 DTNB skos:exactMatch ncbigene:1838 semapv:UnspecifiedMatching -OMIM:602416 AP3S2 skos:exactMatch ncbigene:10239 semapv:UnspecifiedMatching OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:AP3S2 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch ncbigene:10239 semapv:UnspecifiedMatching OMIM:602418 weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:EGR3 semapv:UnspecifiedMatching OMIM:602419 EGR3 skos:exactMatch ncbigene:1960 semapv:UnspecifiedMatching @@ -13802,8 +13806,8 @@ OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:KCNA10 semapv:UnspecifiedMatching OMIM:602420 KCNA10 skos:exactMatch ncbigene:3744 semapv:UnspecifiedMatching OMIM:602421 CFTR skos:exactMatch hgnc.symbol:CFTR semapv:UnspecifiedMatching OMIM:602421 CFTR skos:exactMatch ncbigene:1080 semapv:UnspecifiedMatching -OMIM:602422 SLBP skos:exactMatch ncbigene:7884 semapv:UnspecifiedMatching OMIM:602422 SLBP skos:exactMatch hgnc.symbol:SLBP semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch ncbigene:7884 semapv:UnspecifiedMatching OMIM:602423 NR1H3 skos:exactMatch ncbigene:10062 semapv:UnspecifiedMatching OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:NR1H3 semapv:UnspecifiedMatching OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:DMRT1 semapv:UnspecifiedMatching @@ -13822,8 +13826,8 @@ OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:ROBO1 semapv:UnspecifiedMatching OMIM:602430 ROBO1 skos:exactMatch ncbigene:6091 semapv:UnspecifiedMatching OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:ROBO2 semapv:UnspecifiedMatching OMIM:602431 ROBO2 skos:exactMatch ncbigene:6092 semapv:UnspecifiedMatching -OMIM:602432 OPTN skos:exactMatch ncbigene:10133 semapv:UnspecifiedMatching OMIM:602432 OPTN skos:exactMatch hgnc.symbol:OPTN semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch ncbigene:10133 semapv:UnspecifiedMatching OMIM:602434 AUP1 skos:exactMatch ncbigene:550 semapv:UnspecifiedMatching OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:AUP1 semapv:UnspecifiedMatching OMIM:602435 PPIE skos:exactMatch hgnc.symbol:PPIE semapv:UnspecifiedMatching @@ -13834,144 +13838,144 @@ OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:GCHFR semapv:UnspecifiedMatching OMIM:602437 GCHFR skos:exactMatch ncbigene:2644 semapv:UnspecifiedMatching OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:HSF4 semapv:UnspecifiedMatching OMIM:602438 HSF4 skos:exactMatch ncbigene:3299 semapv:UnspecifiedMatching -OMIM:602441 CISH skos:exactMatch ncbigene:1154 semapv:UnspecifiedMatching OMIM:602441 CISH skos:exactMatch hgnc.symbol:CISH semapv:UnspecifiedMatching -OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:ITSN1 semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch ncbigene:1154 semapv:UnspecifiedMatching OMIM:602442 ITSN1 skos:exactMatch ncbigene:6453 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:ITSN1 semapv:UnspecifiedMatching OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:XPNPEP1 semapv:UnspecifiedMatching OMIM:602443 XPNPEP1 skos:exactMatch ncbigene:7511 semapv:UnspecifiedMatching OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:ZNF354A semapv:UnspecifiedMatching OMIM:602444 ZNF354A skos:exactMatch ncbigene:6940 semapv:UnspecifiedMatching OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:SERPINI1 semapv:UnspecifiedMatching OMIM:602445 SERPINI1 skos:exactMatch ncbigene:5274 semapv:UnspecifiedMatching -OMIM:602446 GPC5 skos:exactMatch ncbigene:2262 semapv:UnspecifiedMatching OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:GPC5 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch ncbigene:2262 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch ncbigene:5445 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch hgnc.symbol:PON2 semapv:UnspecifiedMatching OMIM:602447 PON2 skos:exactMatch UMLS:C1418755 semapv:UnspecifiedMatching OMIM:602447 PON2 skos:exactMatch UMLS:C4016795 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch hgnc.symbol:PON2 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch ncbigene:5445 semapv:UnspecifiedMatching OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:MAP3K5 semapv:UnspecifiedMatching OMIM:602448 MAP3K5 skos:exactMatch ncbigene:4217 semapv:UnspecifiedMatching -OMIM:602449 AKAP1 skos:exactMatch ncbigene:8165 semapv:UnspecifiedMatching OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:AKAP1 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch ncbigene:8165 semapv:UnspecifiedMatching OMIM:602451 P2RY6 skos:exactMatch ncbigene:5031 semapv:UnspecifiedMatching OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:P2RY6 semapv:UnspecifiedMatching -OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:BUB1 semapv:UnspecifiedMatching OMIM:602452 BUB1 skos:exactMatch ncbigene:699 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:BUB1 semapv:UnspecifiedMatching OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:ITGAD semapv:UnspecifiedMatching OMIM:602453 ITGAD skos:exactMatch ncbigene:3681 semapv:UnspecifiedMatching OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:PTPRU semapv:UnspecifiedMatching OMIM:602454 PTPRU skos:exactMatch ncbigene:10076 semapv:UnspecifiedMatching -OMIM:602457 FADD skos:exactMatch ncbigene:8772 semapv:UnspecifiedMatching OMIM:602457 FADD skos:exactMatch hgnc.symbol:FADD semapv:UnspecifiedMatching -OMIM:602458 SORT1 skos:exactMatch ncbigene:6272 semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch ncbigene:8772 semapv:UnspecifiedMatching OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:SORT1 semapv:UnspecifiedMatching -OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:POU4F3 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch ncbigene:6272 semapv:UnspecifiedMatching OMIM:602460 POU4F3 skos:exactMatch ncbigene:5459 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:POU4F3 semapv:UnspecifiedMatching OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:SIRPA semapv:UnspecifiedMatching OMIM:602461 PTPNS1 skos:exactMatch ncbigene:140885 semapv:UnspecifiedMatching OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:CRMP1 semapv:UnspecifiedMatching OMIM:602462 CRMP1 skos:exactMatch ncbigene:1400 semapv:UnspecifiedMatching OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:DPYSL2 semapv:UnspecifiedMatching OMIM:602463 DPYSL2 skos:exactMatch ncbigene:1808 semapv:UnspecifiedMatching -OMIM:602464 TRAF4 skos:exactMatch ncbigene:9618 semapv:UnspecifiedMatching OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:TRAF4 semapv:UnspecifiedMatching -OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:SPRY1 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch ncbigene:9618 semapv:UnspecifiedMatching OMIM:602465 SPRY1 skos:exactMatch ncbigene:10252 semapv:UnspecifiedMatching -OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:SPRY2 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:SPRY1 semapv:UnspecifiedMatching OMIM:602466 SPRY2 skos:exactMatch ncbigene:10253 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:SPRY2 semapv:UnspecifiedMatching OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:PPP1R9A semapv:UnspecifiedMatching OMIM:602468 PPP1R9A skos:exactMatch ncbigene:55607 semapv:UnspecifiedMatching OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:FOLR3 semapv:UnspecifiedMatching OMIM:602469 FOLR3 skos:exactMatch ncbigene:2352 semapv:UnspecifiedMatching -OMIM:602470 PSCA skos:exactMatch ncbigene:8000 semapv:UnspecifiedMatching OMIM:602470 PSCA skos:exactMatch hgnc.symbol:PSCA semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch ncbigene:8000 semapv:UnspecifiedMatching OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:PKMYT1 semapv:UnspecifiedMatching OMIM:602474 PKMYT1 skos:exactMatch ncbigene:9088 semapv:UnspecifiedMatching -OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching OMIM:602478 TRDMT1 skos:exactMatch ncbigene:1787 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:POU3F1 semapv:UnspecifiedMatching OMIM:602479 POU3F1 skos:exactMatch ncbigene:5453 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch ncbigene:5455 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:POU3F3 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching OMIM:602480 POU3F3 skos:exactMatch UMLS:C1418763 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:POU3F3 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch ncbigene:5455 semapv:UnspecifiedMatching OMIM:602486 POP1 skos:exactMatch hgnc.symbol:POP1 semapv:UnspecifiedMatching OMIM:602486 POP1 skos:exactMatch ncbigene:10940 semapv:UnspecifiedMatching -OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:RIDA semapv:UnspecifiedMatching OMIM:602487 HRSP12 skos:exactMatch ncbigene:10247 semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:RIDA semapv:UnspecifiedMatching OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:CYTH2 semapv:UnspecifiedMatching OMIM:602488 CYTH2 skos:exactMatch ncbigene:9266 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch UMLS:C1425322 semapv:UnspecifiedMatching OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:KHDRBS1 semapv:UnspecifiedMatching OMIM:602489 KHDRBS1 skos:exactMatch ncbigene:10657 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch UMLS:C1425322 semapv:UnspecifiedMatching -OMIM:602490 NRIP1 skos:exactMatch ncbigene:8204 semapv:UnspecifiedMatching OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:NRIP1 semapv:UnspecifiedMatching -OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:PTX3 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch ncbigene:8204 semapv:UnspecifiedMatching OMIM:602492 PTX3 skos:exactMatch ncbigene:5806 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:PTX3 semapv:UnspecifiedMatching OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:UVRAG semapv:UnspecifiedMatching OMIM:602493 UVRAG skos:exactMatch ncbigene:7405 semapv:UnspecifiedMatching OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:CCL23 semapv:UnspecifiedMatching OMIM:602494 CCL23 skos:exactMatch ncbigene:6368 semapv:UnspecifiedMatching OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:CCL24 semapv:UnspecifiedMatching OMIM:602495 CCL24 skos:exactMatch ncbigene:6369 semapv:UnspecifiedMatching -OMIM:602496 MPST skos:exactMatch ncbigene:4357 semapv:UnspecifiedMatching OMIM:602496 MPST skos:exactMatch hgnc.symbol:MPST semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch ncbigene:4357 semapv:UnspecifiedMatching OMIM:602498 TFG skos:exactMatch hgnc.symbol:TFG semapv:UnspecifiedMatching OMIM:602498 TFG skos:exactMatch ncbigene:10342 semapv:UnspecifiedMatching -OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:GOLGB1 semapv:UnspecifiedMatching OMIM:602500 GOLGB1 skos:exactMatch ncbigene:2804 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:GOLGB1 semapv:UnspecifiedMatching OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:GOLGA1 semapv:UnspecifiedMatching OMIM:602502 GOLGA1 skos:exactMatch ncbigene:2800 semapv:UnspecifiedMatching -OMIM:602503 FRAT1 skos:exactMatch ncbigene:10023 semapv:UnspecifiedMatching OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:FRAT1 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch ncbigene:10023 semapv:UnspecifiedMatching OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:SHOX2 semapv:UnspecifiedMatching OMIM:602504 SHOX2 skos:exactMatch ncbigene:6474 semapv:UnspecifiedMatching -OMIM:602505 PXN skos:exactMatch hgnc.symbol:PXN semapv:UnspecifiedMatching OMIM:602505 PXN skos:exactMatch ncbigene:5829 semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch hgnc.symbol:PXN semapv:UnspecifiedMatching OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:RNF103 semapv:UnspecifiedMatching OMIM:602507 RNF103 skos:exactMatch ncbigene:7844 semapv:UnspecifiedMatching -OMIM:602508 PAFAH1B2 skos:exactMatch ncbigene:5049 semapv:UnspecifiedMatching OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:PAFAH1B2 semapv:UnspecifiedMatching -OMIM:602509 GOLGA4 skos:exactMatch ncbigene:2803 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch ncbigene:5049 semapv:UnspecifiedMatching OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:GOLGA4 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch ncbigene:2803 semapv:UnspecifiedMatching OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:PTPRH semapv:UnspecifiedMatching OMIM:602510 PTPRH skos:exactMatch ncbigene:5794 semapv:UnspecifiedMatching -OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:RGS12 semapv:UnspecifiedMatching OMIM:602512 RGS12 skos:exactMatch ncbigene:6002 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:RGS12 semapv:UnspecifiedMatching OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:RGS14 semapv:UnspecifiedMatching OMIM:602513 RGS14 skos:exactMatch ncbigene:10636 semapv:UnspecifiedMatching -OMIM:602514 RGS16 skos:exactMatch ncbigene:6004 semapv:UnspecifiedMatching OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:RGS16 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch ncbigene:6004 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch UMLS:C1415202 semapv:UnspecifiedMatching OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:GPLD1 semapv:UnspecifiedMatching OMIM:602515 GPLD1 skos:exactMatch ncbigene:2822 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch UMLS:C1415202 semapv:UnspecifiedMatching -OMIM:602516 RGS4 skos:exactMatch ncbigene:5999 semapv:UnspecifiedMatching OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:RGS4 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch ncbigene:5999 semapv:UnspecifiedMatching OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:RGS7 semapv:UnspecifiedMatching OMIM:602517 RGS7 skos:exactMatch ncbigene:6000 semapv:UnspecifiedMatching OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:LGALS4 semapv:UnspecifiedMatching OMIM:602518 LGALS4 skos:exactMatch ncbigene:3960 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch UMLS:C1421408 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch hgnc.symbol:USP7 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch UMLS:C1421408 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch ncbigene:7874 semapv:UnspecifiedMatching OMIM:602520 MAP2K5 skos:exactMatch ncbigene:5607 semapv:UnspecifiedMatching OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:MAP2K5 semapv:UnspecifiedMatching -OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:MAPK7 semapv:UnspecifiedMatching OMIM:602521 MAPK7 skos:exactMatch ncbigene:5598 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:MAPK7 semapv:UnspecifiedMatching OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:DSCAM semapv:UnspecifiedMatching OMIM:602523 DSCAM skos:exactMatch ncbigene:1826 semapv:UnspecifiedMatching OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:PDK1 semapv:UnspecifiedMatching OMIM:602524 PDK1 skos:exactMatch ncbigene:5163 semapv:UnspecifiedMatching OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:PDK2 semapv:UnspecifiedMatching OMIM:602525 PDK2 skos:exactMatch ncbigene:5164 semapv:UnspecifiedMatching -OMIM:602527 PDK4 skos:exactMatch ncbigene:5166 semapv:UnspecifiedMatching OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:PDK4 semapv:UnspecifiedMatching -OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:TUBA3C semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch ncbigene:5166 semapv:UnspecifiedMatching OMIM:602528 TUBA3C skos:exactMatch ncbigene:7278 semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:TUBA3C semapv:UnspecifiedMatching OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:TUBA1A semapv:UnspecifiedMatching OMIM:602529 TUBA1A skos:exactMatch ncbigene:7846 semapv:UnspecifiedMatching OMIM:602530 TUBA1B skos:exactMatch UMLS:C1865268 semapv:UnspecifiedMatching @@ -13979,202 +13983,202 @@ OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:TUBA1B semapv:UnspecifiedMatching OMIM:602530 TUBA1B skos:exactMatch ncbigene:10376 semapv:UnspecifiedMatching OMIM:602531 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching OMIM:602531 grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching -OMIM:602532 RNF217AS1 skos:exactMatch ncbigene:7955 semapv:UnspecifiedMatching OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:RNF217-AS1 semapv:UnspecifiedMatching -OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:PARK7 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch ncbigene:7955 semapv:UnspecifiedMatching OMIM:602533 DJ1 skos:exactMatch ncbigene:11315 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:PARK7 semapv:UnspecifiedMatching OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:SNAP23 semapv:UnspecifiedMatching OMIM:602534 SNAP23 skos:exactMatch ncbigene:8773 semapv:UnspecifiedMatching OMIM:602535 marshall-smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching OMIM:602535 marshall-smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching -OMIM:602536 RAB3GAP1 skos:exactMatch ncbigene:22930 semapv:UnspecifiedMatching OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:RAB3GAP1 semapv:UnspecifiedMatching -OMIM:602537 CAPN5 skos:exactMatch ncbigene:726 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch ncbigene:22930 semapv:UnspecifiedMatching OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:CAPN5 semapv:UnspecifiedMatching -OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:CELF2 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch ncbigene:726 semapv:UnspecifiedMatching OMIM:602538 CELF2 skos:exactMatch ncbigene:10659 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:CELF2 semapv:UnspecifiedMatching OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:MAP3K3 semapv:UnspecifiedMatching OMIM:602539 MAP3K3 skos:exactMatch ncbigene:4215 semapv:UnspecifiedMatching OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:BTF3 semapv:UnspecifiedMatching OMIM:602542 BTF3 skos:exactMatch ncbigene:689 semapv:UnspecifiedMatching -OMIM:602543 BTF3P11 skos:exactMatch ncbigene:690 semapv:UnspecifiedMatching OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:BTF3P11 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1418270 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch ncbigene:690 semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch hgnc.symbol:PRKN semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch ncbigene:5071 semapv:UnspecifiedMatching -OMIM:602545 PTPRK skos:exactMatch ncbigene:5796 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1418270 semapv:UnspecifiedMatching OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:PTPRK semapv:UnspecifiedMatching -OMIM:602546 ST8SIA2 skos:exactMatch ncbigene:8128 semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch ncbigene:5796 semapv:UnspecifiedMatching OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:ST8SIA2 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch ncbigene:8128 semapv:UnspecifiedMatching OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:ST8SIA4 semapv:UnspecifiedMatching OMIM:602547 ST8SIA4 skos:exactMatch ncbigene:7903 semapv:UnspecifiedMatching -OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:OPRL1 semapv:UnspecifiedMatching OMIM:602548 OPRL1 skos:exactMatch ncbigene:4987 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:OPRL1 semapv:UnspecifiedMatching OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:PKN2 semapv:UnspecifiedMatching OMIM:602549 PKN2 skos:exactMatch ncbigene:5586 semapv:UnspecifiedMatching +OMIM:602550 ARNTL skos:exactMatch UMLS:C1412544 semapv:UnspecifiedMatching OMIM:602550 ARNTL skos:exactMatch hgnc.symbol:BMAL1 semapv:UnspecifiedMatching OMIM:602550 ARNTL skos:exactMatch ncbigene:406 semapv:UnspecifiedMatching -OMIM:602550 ARNTL skos:exactMatch UMLS:C1412544 semapv:UnspecifiedMatching OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:NUP88 semapv:UnspecifiedMatching OMIM:602552 NUP88 skos:exactMatch ncbigene:4927 semapv:UnspecifiedMatching -OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching -OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:XPO1 semapv:UnspecifiedMatching +OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching OMIM:602559 XPO1 skos:exactMatch ncbigene:7514 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:NKX6-1 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:XPO1 semapv:UnspecifiedMatching OMIM:602563 NKX6-1 skos:exactMatch UMLS:C1417738 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:NKX6-1 semapv:UnspecifiedMatching OMIM:602563 NKX6-1 skos:exactMatch ncbigene:4825 semapv:UnspecifiedMatching -OMIM:602565 CCL25 skos:exactMatch ncbigene:6370 semapv:UnspecifiedMatching OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:CCL25 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch ncbigene:6370 semapv:UnspecifiedMatching OMIM:602566 P2RX7 skos:exactMatch UMLS:C1418215 semapv:UnspecifiedMatching OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:P2RX7 semapv:UnspecifiedMatching OMIM:602566 P2RX7 skos:exactMatch ncbigene:5027 semapv:UnspecifiedMatching -OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:LIMS1 semapv:UnspecifiedMatching OMIM:602567 LIMS1 skos:exactMatch ncbigene:3987 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:LIMS1 semapv:UnspecifiedMatching OMIM:602568 MTRR skos:exactMatch hgnc.symbol:MTRR semapv:UnspecifiedMatching OMIM:602568 MTRR skos:exactMatch ncbigene:4552 semapv:UnspecifiedMatching OMIM:602569 SNCB skos:exactMatch hgnc.symbol:SNCB semapv:UnspecifiedMatching OMIM:602569 SNCB skos:exactMatch ncbigene:6620 semapv:UnspecifiedMatching -OMIM:602570 JAG2 skos:exactMatch ncbigene:3714 semapv:UnspecifiedMatching OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:JAG2 semapv:UnspecifiedMatching -OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:RBM4 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch ncbigene:3714 semapv:UnspecifiedMatching OMIM:602571 RBM4 skos:exactMatch ncbigene:5936 semapv:UnspecifiedMatching -OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:ANXA11 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:RBM4 semapv:UnspecifiedMatching OMIM:602572 ANXA11 skos:exactMatch ncbigene:311 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:ANXA11 semapv:UnspecifiedMatching OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:ANXA13 semapv:UnspecifiedMatching OMIM:602573 ANXA13 skos:exactMatch ncbigene:312 semapv:UnspecifiedMatching OMIM:602574 TECTA skos:exactMatch hgnc.symbol:TECTA semapv:UnspecifiedMatching OMIM:602574 TECTA skos:exactMatch ncbigene:7007 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch ncbigene:4010 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:LMX1B semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C1416890 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:LMX1B semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch ncbigene:4010 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch ncbigene:3955 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch hgnc.symbol:LFNG semapv:UnspecifiedMatching OMIM:602576 LFNG skos:exactMatch UMLS:C1416828 semapv:UnspecifiedMatching OMIM:602576 LFNG skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch hgnc.symbol:LFNG semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch ncbigene:3955 semapv:UnspecifiedMatching OMIM:602577 MFNG skos:exactMatch hgnc.symbol:MFNG semapv:UnspecifiedMatching OMIM:602577 MFNG skos:exactMatch ncbigene:4242 semapv:UnspecifiedMatching -OMIM:602578 RFNG skos:exactMatch ncbigene:5986 semapv:UnspecifiedMatching OMIM:602578 RFNG skos:exactMatch hgnc.symbol:RFNG semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch ncbigene:5986 semapv:UnspecifiedMatching OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:GOLGA2 semapv:UnspecifiedMatching OMIM:602580 GOLGA2 skos:exactMatch ncbigene:2801 semapv:UnspecifiedMatching -OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:GOLGA3 semapv:UnspecifiedMatching OMIM:602581 GOLGA3 skos:exactMatch ncbigene:2802 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:GOLGA3 semapv:UnspecifiedMatching OMIM:602582 DTX1 skos:exactMatch UMLS:C1333256 semapv:UnspecifiedMatching OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:DTX1 semapv:UnspecifiedMatching OMIM:602582 DTX1 skos:exactMatch ncbigene:1840 semapv:UnspecifiedMatching -OMIM:602583 GPR37 skos:exactMatch ncbigene:2861 semapv:UnspecifiedMatching OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:GPR37 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch ncbigene:2861 semapv:UnspecifiedMatching OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:RCN2 semapv:UnspecifiedMatching OMIM:602584 RCN2 skos:exactMatch ncbigene:5955 semapv:UnspecifiedMatching OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:ACOT7 semapv:UnspecifiedMatching OMIM:602587 ACOT7 skos:exactMatch ncbigene:11332 semapv:UnspecifiedMatching -OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:FUT8 semapv:UnspecifiedMatching OMIM:602589 FUT8 skos:exactMatch ncbigene:2530 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:FUT8 semapv:UnspecifiedMatching OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:PAK1 semapv:UnspecifiedMatching OMIM:602590 PAK1 skos:exactMatch ncbigene:5058 semapv:UnspecifiedMatching -OMIM:602591 KIF2A skos:exactMatch ncbigene:3796 semapv:UnspecifiedMatching OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:KIF2A semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch ncbigene:3796 semapv:UnspecifiedMatching OMIM:602592 CD5L skos:exactMatch hgnc.symbol:CD5L semapv:UnspecifiedMatching OMIM:602592 CD5L skos:exactMatch ncbigene:922 semapv:UnspecifiedMatching -OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching OMIM:602593 CDSN skos:exactMatch ncbigene:1041 semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch ncbigene:8487 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch UMLS:C1420069 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:GEMIN2 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch ncbigene:8487 semapv:UnspecifiedMatching -OMIM:602597 BCL9 skos:exactMatch ncbigene:607 semapv:UnspecifiedMatching OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:BCL9 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch ncbigene:607 semapv:UnspecifiedMatching OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:HPGDS semapv:UnspecifiedMatching OMIM:602598 HPGDS skos:exactMatch ncbigene:27306 semapv:UnspecifiedMatching OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:LRP8 semapv:UnspecifiedMatching OMIM:602600 LRP8 skos:exactMatch ncbigene:7804 semapv:UnspecifiedMatching -OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:OLR1 semapv:UnspecifiedMatching OMIM:602601 OLR1 skos:exactMatch ncbigene:4973 semapv:UnspecifiedMatching -OMIM:602602 SECTM1 skos:exactMatch ncbigene:6398 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:OLR1 semapv:UnspecifiedMatching OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:SECTM1 semapv:UnspecifiedMatching -OMIM:602603 MAGOH skos:exactMatch ncbigene:4116 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch ncbigene:6398 semapv:UnspecifiedMatching OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:MAGOH semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch ncbigene:4116 semapv:UnspecifiedMatching OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:CARTPT semapv:UnspecifiedMatching OMIM:602606 CARTPT skos:exactMatch ncbigene:9607 semapv:UnspecifiedMatching -OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:SLC22A1 semapv:UnspecifiedMatching OMIM:602607 SLC22A1 skos:exactMatch ncbigene:6580 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:SLC22A1 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch ncbigene:6582 semapv:UnspecifiedMatching OMIM:602608 SLC22A2 skos:exactMatch UMLS:C1420137 semapv:UnspecifiedMatching OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:SLC22A2 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch ncbigene:6582 semapv:UnspecifiedMatching OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:PIK3C3 semapv:UnspecifiedMatching OMIM:602609 PIK3C3 skos:exactMatch ncbigene:5289 semapv:UnspecifiedMatching OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:PIK3R4 semapv:UnspecifiedMatching OMIM:602610 PIK3R4 skos:exactMatch ncbigene:30849 semapv:UnspecifiedMatching -OMIM:602614 MAP3K7 skos:exactMatch ncbigene:6885 semapv:UnspecifiedMatching OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:MAP3K7 semapv:UnspecifiedMatching -OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:TAB1 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch ncbigene:6885 semapv:UnspecifiedMatching OMIM:602615 TAB1 skos:exactMatch ncbigene:10454 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:TAB1 semapv:UnspecifiedMatching OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:MGAT2 semapv:UnspecifiedMatching OMIM:602616 MGAT2 skos:exactMatch ncbigene:4247 semapv:UnspecifiedMatching OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:FOXE1 semapv:UnspecifiedMatching OMIM:602617 FOXE1 skos:exactMatch ncbigene:2304 semapv:UnspecifiedMatching OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:CTBP1 semapv:UnspecifiedMatching OMIM:602618 CTBP1 skos:exactMatch ncbigene:1487 semapv:UnspecifiedMatching -OMIM:602619 CTBP2 skos:exactMatch ncbigene:1488 semapv:UnspecifiedMatching OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:CTBP2 semapv:UnspecifiedMatching -OMIM:602620 LGMN skos:exactMatch hgnc.symbol:LGMN semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch ncbigene:1488 semapv:UnspecifiedMatching OMIM:602620 LGMN skos:exactMatch ncbigene:5641 semapv:UnspecifiedMatching -OMIM:602621 CXADR skos:exactMatch hgnc.symbol:CXADR semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch hgnc.symbol:LGMN semapv:UnspecifiedMatching OMIM:602621 CXADR skos:exactMatch ncbigene:1525 semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch hgnc.symbol:CXADR semapv:UnspecifiedMatching OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:DNASE1L2 semapv:UnspecifiedMatching OMIM:602622 DNASE1L2 skos:exactMatch ncbigene:1775 semapv:UnspecifiedMatching OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:FKBP5 semapv:UnspecifiedMatching OMIM:602623 FKBP5 skos:exactMatch ncbigene:2289 semapv:UnspecifiedMatching -OMIM:602625 MAGI1 skos:exactMatch ncbigene:9223 semapv:UnspecifiedMatching OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:MAGI1 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch ncbigene:9223 semapv:UnspecifiedMatching OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:IL1RAP semapv:UnspecifiedMatching OMIM:602626 IL1RAP skos:exactMatch ncbigene:3556 semapv:UnspecifiedMatching -OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:CDC6 semapv:UnspecifiedMatching OMIM:602627 CDC6 skos:exactMatch ncbigene:990 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:CDC6 semapv:UnspecifiedMatching OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:FOXN3 semapv:UnspecifiedMatching OMIM:602628 FOXN3 skos:exactMatch ncbigene:1112 semapv:UnspecifiedMatching OMIM:602630 TGIF skos:exactMatch hgnc.symbol:TGIF1 semapv:UnspecifiedMatching OMIM:602630 TGIF skos:exactMatch ncbigene:7050 semapv:UnspecifiedMatching -OMIM:602631 SLC22A18 skos:exactMatch ncbigene:5002 semapv:UnspecifiedMatching OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:SLC22A18 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch ncbigene:5002 semapv:UnspecifiedMatching OMIM:602632 PODXL skos:exactMatch hgnc.symbol:PODXL semapv:UnspecifiedMatching OMIM:602632 PODXL skos:exactMatch ncbigene:5420 semapv:UnspecifiedMatching -OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:FHL2 semapv:UnspecifiedMatching OMIM:602633 FHL2 skos:exactMatch ncbigene:2274 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:FHL2 semapv:UnspecifiedMatching OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:DNAJB9 semapv:UnspecifiedMatching OMIM:602634 DNAJB9 skos:exactMatch ncbigene:4189 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:DEAF1 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch ncbigene:10522 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C1422833 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394572 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394573 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C1422833 semapv:UnspecifiedMatching -OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:PPP1R8 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch ncbigene:10522 semapv:UnspecifiedMatching OMIM:602636 PPP1R8 skos:exactMatch ncbigene:5511 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:PPP1R8 semapv:UnspecifiedMatching OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:SPP2 semapv:UnspecifiedMatching OMIM:602637 SPP2 skos:exactMatch ncbigene:6694 semapv:UnspecifiedMatching OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:MCM4 semapv:UnspecifiedMatching OMIM:602638 MCM4 skos:exactMatch ncbigene:4173 semapv:UnspecifiedMatching -OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:NAALADL1 semapv:UnspecifiedMatching -OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:EIF4A1 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching OMIM:602641 EIF4A1 skos:exactMatch ncbigene:1973 semapv:UnspecifiedMatching -OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:TNFSF11 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:EIF4A1 semapv:UnspecifiedMatching OMIM:602642 TNFSF11 skos:exactMatch ncbigene:8600 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:TNFSF11 semapv:UnspecifiedMatching OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:TNFRSF11B semapv:UnspecifiedMatching OMIM:602643 TNFRSF11B skos:exactMatch ncbigene:4982 semapv:UnspecifiedMatching OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:TSPAN4 semapv:UnspecifiedMatching OMIM:602644 TSPAN4 skos:exactMatch ncbigene:7106 semapv:UnspecifiedMatching -OMIM:602645 SEMA3C skos:exactMatch ncbigene:10512 semapv:UnspecifiedMatching OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:SEMA3C semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch ncbigene:10512 semapv:UnspecifiedMatching OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:GPR35 semapv:UnspecifiedMatching OMIM:602646 GPR35 skos:exactMatch ncbigene:2859 semapv:UnspecifiedMatching OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:NXF1 semapv:UnspecifiedMatching @@ -14183,21 +14187,21 @@ OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:ACKR2 semapv:UnspecifiedMatching OMIM:602648 ACKR2 skos:exactMatch ncbigene:1238 semapv:UnspecifiedMatching OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:CIRBP semapv:UnspecifiedMatching OMIM:602649 CIRBP skos:exactMatch ncbigene:1153 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch ncbigene:8405 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch hgnc.symbol:SPOP semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch UMLS:C1420368 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch ncbigene:8405 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch UMLS:C1420368 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:NRDC semapv:UnspecifiedMatching OMIM:602651 NRD1 skos:exactMatch ncbigene:4898 semapv:UnspecifiedMatching OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:KLK6 semapv:UnspecifiedMatching OMIM:602652 KLK6 skos:exactMatch ncbigene:5653 semapv:UnspecifiedMatching -OMIM:602653 TECTB skos:exactMatch ncbigene:6975 semapv:UnspecifiedMatching OMIM:602653 TECTB skos:exactMatch hgnc.symbol:TECTB semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch ncbigene:6975 semapv:UnspecifiedMatching OMIM:602654 FARP1 skos:exactMatch ncbigene:10160 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch UMLS:C1414533 semapv:UnspecifiedMatching OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:FARP1 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch UMLS:C1414533 semapv:UnspecifiedMatching OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:SLC4A1AP semapv:UnspecifiedMatching OMIM:602655 SLC4A1AP skos:exactMatch ncbigene:22950 semapv:UnspecifiedMatching OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:NTHL1 semapv:UnspecifiedMatching @@ -14206,81 +14210,81 @@ OMIM:602658 PDE2A skos:exactMatch UMLS:C1418417 semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch UMLS:C5436894 semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:PDE2A semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch ncbigene:5138 semapv:UnspecifiedMatching -OMIM:602659 MNAT1 skos:exactMatch ncbigene:4331 semapv:UnspecifiedMatching OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:MNAT1 semapv:UnspecifiedMatching -OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:TUBB4B semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch ncbigene:4331 semapv:UnspecifiedMatching OMIM:602660 TUBB4B skos:exactMatch ncbigene:10383 semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:TUBB4B semapv:UnspecifiedMatching OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:TUBB3 semapv:UnspecifiedMatching OMIM:602661 TUBB3 skos:exactMatch ncbigene:10381 semapv:UnspecifiedMatching OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:TUBB4A semapv:UnspecifiedMatching OMIM:602662 TUBB4A skos:exactMatch ncbigene:10382 semapv:UnspecifiedMatching OMIM:602663 PRLH skos:exactMatch hgnc.symbol:PRLH semapv:UnspecifiedMatching OMIM:602663 PRLH skos:exactMatch ncbigene:51052 semapv:UnspecifiedMatching -OMIM:602664 CASP4 skos:exactMatch ncbigene:837 semapv:UnspecifiedMatching OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:CASP4 semapv:UnspecifiedMatching -OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:CASP5 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch ncbigene:837 semapv:UnspecifiedMatching OMIM:602665 CASP5 skos:exactMatch ncbigene:838 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:CASP5 semapv:UnspecifiedMatching OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:MYO15A semapv:UnspecifiedMatching OMIM:602666 MYO15A skos:exactMatch ncbigene:51168 semapv:UnspecifiedMatching OMIM:602667 NBN skos:exactMatch hgnc.symbol:NBN semapv:UnspecifiedMatching OMIM:602667 NBN skos:exactMatch ncbigene:4683 semapv:UnspecifiedMatching OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:PITX3 semapv:UnspecifiedMatching OMIM:602669 PITX3 skos:exactMatch ncbigene:5309 semapv:UnspecifiedMatching -OMIM:602670 POLE2 skos:exactMatch ncbigene:5427 semapv:UnspecifiedMatching OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:POLE2 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch ncbigene:5427 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch ncbigene:2542 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:SLC37A4 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0342749 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C1414895 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:SLC37A4 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch ncbigene:2542 semapv:UnspecifiedMatching OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:RAB13 semapv:UnspecifiedMatching OMIM:602672 RAB13 skos:exactMatch ncbigene:5872 semapv:UnspecifiedMatching -OMIM:602673 KLK10 skos:exactMatch ncbigene:5655 semapv:UnspecifiedMatching OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:KLK10 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch ncbigene:5655 semapv:UnspecifiedMatching OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:RNPEP semapv:UnspecifiedMatching OMIM:602675 RNPEP skos:exactMatch ncbigene:6051 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch ncbigene:5147 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:PDE6D semapv:UnspecifiedMatching OMIM:602676 PDE6D skos:exactMatch UMLS:C1418428 semapv:UnspecifiedMatching OMIM:602676 PDE6D skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:PDE6D semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch ncbigene:5147 semapv:UnspecifiedMatching OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:RNF5 semapv:UnspecifiedMatching OMIM:602677 RNF5 skos:exactMatch ncbigene:6048 semapv:UnspecifiedMatching -OMIM:602678 MARK3 skos:exactMatch ncbigene:4140 semapv:UnspecifiedMatching OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:MARK3 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch UMLS:C1418398 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:PCYT2 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch ncbigene:4140 semapv:UnspecifiedMatching OMIM:602679 PCYT2 skos:exactMatch ncbigene:5833 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:PCYT2 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch UMLS:C1418398 semapv:UnspecifiedMatching OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:ARHGAP5 semapv:UnspecifiedMatching OMIM:602680 ARHGAP5 skos:exactMatch ncbigene:394 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch ncbigene:2309 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:FOXO3 semapv:UnspecifiedMatching OMIM:602681 FOXO3A skos:exactMatch UMLS:C1333573 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:FOXO3 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch ncbigene:2309 semapv:UnspecifiedMatching OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:ADGRB1 semapv:UnspecifiedMatching OMIM:602682 ADGRB1 skos:exactMatch ncbigene:575 semapv:UnspecifiedMatching -OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:ADGRB2 semapv:UnspecifiedMatching OMIM:602683 ADGRB2 skos:exactMatch ncbigene:576 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:ADGRB2 semapv:UnspecifiedMatching OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:ADGRB3 semapv:UnspecifiedMatching OMIM:602684 ADGRB3 skos:exactMatch ncbigene:577 semapv:UnspecifiedMatching -OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:MAD1L1 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:HNRNPAB semapv:UnspecifiedMatching OMIM:602688 HNRNPAB skos:exactMatch ncbigene:3182 semapv:UnspecifiedMatching -OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:FSCN1 semapv:UnspecifiedMatching OMIM:602689 FSCN1 skos:exactMatch ncbigene:6624 semapv:UnspecifiedMatching -OMIM:602690 SDHD skos:exactMatch hgnc.symbol:SDHD semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:FSCN1 semapv:UnspecifiedMatching OMIM:602690 SDHD skos:exactMatch ncbigene:6392 semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch hgnc.symbol:SDHD semapv:UnspecifiedMatching OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:NCOA1 semapv:UnspecifiedMatching OMIM:602691 NCOA1 skos:exactMatch ncbigene:8648 semapv:UnspecifiedMatching -OMIM:602692 GLIPR1 skos:exactMatch ncbigene:11010 semapv:UnspecifiedMatching OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:GLIPR1 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch ncbigene:11010 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch UMLS:C1334490 semapv:UnspecifiedMatching OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:MCM3 semapv:UnspecifiedMatching OMIM:602693 MCM3 skos:exactMatch ncbigene:4172 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch UMLS:C1334490 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:NDUFS4 semapv:UnspecifiedMatching OMIM:602694 NDUFS4 skos:exactMatch ncbigene:4724 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1417647 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:NDUFS4 semapv:UnspecifiedMatching OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1417647 semapv:UnspecifiedMatching OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:TNFSF12 semapv:UnspecifiedMatching OMIM:602695 TNFSF12 skos:exactMatch ncbigene:8742 semapv:UnspecifiedMatching OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:MCM5 semapv:UnspecifiedMatching @@ -14290,35 +14294,35 @@ OMIM:602697 P2RY11 skos:exactMatch ncbigene:5032 semapv:UnspecifiedMatching OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:NFATC3 semapv:UnspecifiedMatching OMIM:602698 NFATC3 skos:exactMatch ncbigene:4775 semapv:UnspecifiedMatching OMIM:602698 NFATC3 skos:exactMatch UMLS:C1417696 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch UMLS:C1417697 semapv:UnspecifiedMatching OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:NFATC4 semapv:UnspecifiedMatching OMIM:602699 NFATC4 skos:exactMatch ncbigene:4776 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch UMLS:C1417697 semapv:UnspecifiedMatching OMIM:602700 EP300 skos:exactMatch hgnc.symbol:EP300 semapv:UnspecifiedMatching OMIM:602700 EP300 skos:exactMatch ncbigene:2033 semapv:UnspecifiedMatching OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:SLMAP semapv:UnspecifiedMatching OMIM:602701 SLMAP skos:exactMatch ncbigene:7871 semapv:UnspecifiedMatching OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:PLIN3 semapv:UnspecifiedMatching OMIM:602702 PLIN3 skos:exactMatch ncbigene:10226 semapv:UnspecifiedMatching -OMIM:602703 KATNB1 skos:exactMatch ncbigene:10300 semapv:UnspecifiedMatching OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:KATNB1 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch ncbigene:10300 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch ncbigene:4194 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:MDM4 semapv:UnspecifiedMatching OMIM:602704 MDM4 skos:exactMatch UMLS:C1417089 semapv:UnspecifiedMatching OMIM:602704 MDM4 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:MDM4 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch ncbigene:4194 semapv:UnspecifiedMatching OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:SYN3 semapv:UnspecifiedMatching OMIM:602705 SYN3 skos:exactMatch ncbigene:8224 semapv:UnspecifiedMatching -OMIM:602706 PSMC1 skos:exactMatch ncbigene:5700 semapv:UnspecifiedMatching OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:PSMC1 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch ncbigene:5700 semapv:UnspecifiedMatching OMIM:602707 PSMC4 skos:exactMatch ncbigene:5704 semapv:UnspecifiedMatching OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:PSMC4 semapv:UnspecifiedMatching -OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:PSMC6 semapv:UnspecifiedMatching OMIM:602708 PSMC6 skos:exactMatch ncbigene:5706 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:PSMC6 semapv:UnspecifiedMatching OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:APBB1 semapv:UnspecifiedMatching OMIM:602709 APBB1 skos:exactMatch ncbigene:322 semapv:UnspecifiedMatching OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:APBB2 semapv:UnspecifiedMatching OMIM:602710 APBB2 skos:exactMatch ncbigene:323 semapv:UnspecifiedMatching -OMIM:602711 APBB3 skos:exactMatch ncbigene:10307 semapv:UnspecifiedMatching OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:APBB3 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch ncbigene:10307 semapv:UnspecifiedMatching OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:APBA2 semapv:UnspecifiedMatching OMIM:602712 APBA2 skos:exactMatch ncbigene:321 semapv:UnspecifiedMatching OMIM:602712 APBA2 skos:exactMatch UMLS:C1412457 semapv:UnspecifiedMatching @@ -14328,17 +14332,17 @@ OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:ADAM12 semapv:UnspecifiedMatching OMIM:602714 ADAM12 skos:exactMatch ncbigene:8038 semapv:UnspecifiedMatching OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:LMOD1 semapv:UnspecifiedMatching OMIM:602715 LMOD1 skos:exactMatch ncbigene:25802 semapv:UnspecifiedMatching -OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:NPHS1 semapv:UnspecifiedMatching OMIM:602716 NPHS1 skos:exactMatch ncbigene:4868 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:NPHS1 semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch ncbigene:2906 semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:GRIN2D semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch UMLS:C1415302 semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch UMLS:C1415302 semapv:UnspecifiedMatching OMIM:602718 TRA2A skos:exactMatch UMLS:C1864500 semapv:UnspecifiedMatching OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:TRA2A semapv:UnspecifiedMatching OMIM:602718 TRA2A skos:exactMatch ncbigene:29896 semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:TRA2B semapv:UnspecifiedMatching OMIM:602719 TRA2B skos:exactMatch UMLS:C1419990 semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:TRA2B semapv:UnspecifiedMatching OMIM:602719 TRA2B skos:exactMatch ncbigene:6434 semapv:UnspecifiedMatching OMIM:602720 PON3 skos:exactMatch ncbigene:5446 semapv:UnspecifiedMatching OMIM:602720 PON3 skos:exactMatch hgnc.symbol:PON3 semapv:UnspecifiedMatching @@ -14351,8 +14355,8 @@ OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:SEPTIN5 semapv:UnspecifiedMatching OMIM:602724 SEPT5 skos:exactMatch ncbigene:5413 semapv:UnspecifiedMatching OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:IFRD2 semapv:UnspecifiedMatching OMIM:602725 IFRD2 skos:exactMatch ncbigene:7866 semapv:UnspecifiedMatching -OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:CLCN6 semapv:UnspecifiedMatching OMIM:602726 CLCN6 skos:exactMatch ncbigene:1185 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:CLCN6 semapv:UnspecifiedMatching OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:CLCN7 semapv:UnspecifiedMatching OMIM:602727 CLCN7 skos:exactMatch ncbigene:1186 semapv:UnspecifiedMatching OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:SCARA3 semapv:UnspecifiedMatching @@ -14361,20 +14365,20 @@ OMIM:602729 GABRP skos:exactMatch hgnc.symbol:GABRP semapv:UnspecifiedMatching OMIM:602729 GABRP skos:exactMatch ncbigene:2568 semapv:UnspecifiedMatching OMIM:602730 ACVR2B skos:exactMatch ncbigene:93 semapv:UnspecifiedMatching OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:ACVR2B semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch ncbigene:2533 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:FYB1 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching OMIM:602731 FYB1 skos:exactMatch UMLS:C1414885 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:FYB1 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch ncbigene:2533 semapv:UnspecifiedMatching OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:ARHGAP1 semapv:UnspecifiedMatching OMIM:602732 ARHGAP1 skos:exactMatch ncbigene:392 semapv:UnspecifiedMatching -OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:ALDH9A1 semapv:UnspecifiedMatching OMIM:602733 ALDH9A1 skos:exactMatch ncbigene:223 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:ALDH9A1 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:PLS1 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch ncbigene:5357 semapv:UnspecifiedMatching OMIM:602734 PLS1 skos:exactMatch UMLS:C1418657 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching -OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:RCN1 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch ncbigene:5357 semapv:UnspecifiedMatching OMIM:602735 RCN1 skos:exactMatch ncbigene:5954 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:RCN1 semapv:UnspecifiedMatching OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:ATP5MC3 semapv:UnspecifiedMatching OMIM:602736 ATP5MC3 skos:exactMatch ncbigene:518 semapv:UnspecifiedMatching OMIM:602737 CCL21 skos:exactMatch UMLS:C1332684 semapv:UnspecifiedMatching @@ -14404,8 +14408,8 @@ OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:DUSP6 semapv:UnspecifiedMatching OMIM:602748 DUSP6 skos:exactMatch ncbigene:1848 semapv:UnspecifiedMatching OMIM:602749 DUSP7 skos:exactMatch ncbigene:1849 semapv:UnspecifiedMatching OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:DUSP7 semapv:UnspecifiedMatching -OMIM:602750 DDT skos:exactMatch ncbigene:1652 semapv:UnspecifiedMatching OMIM:602750 DDT skos:exactMatch hgnc.symbol:DDT semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch ncbigene:1652 semapv:UnspecifiedMatching OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:BACH1 semapv:UnspecifiedMatching OMIM:602751 BACH1 skos:exactMatch ncbigene:571 semapv:UnspecifiedMatching OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:RGPD8 semapv:UnspecifiedMatching @@ -14420,76 +14424,76 @@ OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:EFNA2 semapv:UnspecifiedMatching OMIM:602756 EFNA2 skos:exactMatch ncbigene:1943 semapv:UnspecifiedMatching OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:EPHB6 semapv:UnspecifiedMatching OMIM:602757 EPHB6 skos:exactMatch ncbigene:2051 semapv:UnspecifiedMatching -OMIM:602758 PIK4CB skos:exactMatch UMLS:C1335216 semapv:UnspecifiedMatching -OMIM:602758 PIK4CB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching -OMIM:602758 PIK4CB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch UMLS:C1335216 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch ncbigene:3882 semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:KRT32 semapv:UnspecifiedMatching -OMIM:602761 KRT33A skos:exactMatch ncbigene:3883 semapv:UnspecifiedMatching OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:KRT33A semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch ncbigene:3883 semapv:UnspecifiedMatching OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:KRT33B semapv:UnspecifiedMatching OMIM:602762 KRT33B skos:exactMatch ncbigene:3884 semapv:UnspecifiedMatching OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:KRT34 semapv:UnspecifiedMatching OMIM:602763 KRT34 skos:exactMatch ncbigene:3885 semapv:UnspecifiedMatching OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:KRT35 semapv:UnspecifiedMatching OMIM:602764 KRT35 skos:exactMatch ncbigene:3886 semapv:UnspecifiedMatching -OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:KRT83 semapv:UnspecifiedMatching OMIM:602765 KRT83 skos:exactMatch ncbigene:3889 semapv:UnspecifiedMatching -OMIM:602766 KRT84 skos:exactMatch ncbigene:3890 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:KRT83 semapv:UnspecifiedMatching OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:KRT84 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch ncbigene:3890 semapv:UnspecifiedMatching OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:KRT85 semapv:UnspecifiedMatching OMIM:602767 KRT85 skos:exactMatch ncbigene:3891 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch UMLS:C1414071 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:DLL3 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch ncbigene:10683 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C1414123 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:DNMT3A semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch ncbigene:1788 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C1414123 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:CBX2 semapv:UnspecifiedMatching OMIM:602770 CBX2 skos:exactMatch ncbigene:84733 semapv:UnspecifiedMatching -OMIM:602771 rigid spine muscular dystrophy 1 skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching -OMIM:602771 rigid spine muscular dystrophy 1 skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching -OMIM:602771 rigid spine muscular dystrophy 1 skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching -OMIM:602771 rigid spine muscular dystrophy 1 skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching -OMIM:602771 rigid spine muscular dystrophy 1 skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch UMLS:C1424449 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:SLC49A4 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching OMIM:602773 SLC49A4 skos:exactMatch ncbigene:84925 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:SLC49A4 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch UMLS:C1424449 semapv:UnspecifiedMatching OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:RAD51C semapv:UnspecifiedMatching OMIM:602774 RAD51C skos:exactMatch ncbigene:5889 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:SHOC2 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch UMLS:C1423500 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:SHOC2 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch ncbigene:8036 semapv:UnspecifiedMatching -OMIM:602776 REV3L skos:exactMatch ncbigene:5980 semapv:UnspecifiedMatching OMIM:602776 REV3L skos:exactMatch hgnc.symbol:REV3L semapv:UnspecifiedMatching -OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:SNAPC4 semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch ncbigene:5980 semapv:UnspecifiedMatching OMIM:602777 SNAPC4 skos:exactMatch ncbigene:6621 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:SNAPC4 semapv:UnspecifiedMatching OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:NR6A1 semapv:UnspecifiedMatching OMIM:602778 NR6A1 skos:exactMatch ncbigene:2649 semapv:UnspecifiedMatching OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:F2RL3 semapv:UnspecifiedMatching OMIM:602779 F2RL3 skos:exactMatch ncbigene:9002 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch ncbigene:348980 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:HCN1 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch UMLS:C1415498 semapv:UnspecifiedMatching -OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:HCN2 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:HCN1 semapv:UnspecifiedMatching OMIM:602781 HCN2 skos:exactMatch ncbigene:610 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:HCN2 semapv:UnspecifiedMatching OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:SPG7 semapv:UnspecifiedMatching OMIM:602783 SPG7 skos:exactMatch ncbigene:6687 semapv:UnspecifiedMatching OMIM:602784 CORT skos:exactMatch hgnc.symbol:CORT semapv:UnspecifiedMatching OMIM:602784 CORT skos:exactMatch ncbigene:1325 semapv:UnspecifiedMatching OMIM:602785 H1FX skos:exactMatch hgnc.symbol:H1-10 semapv:UnspecifiedMatching OMIM:602785 H1FX skos:exactMatch ncbigene:8971 semapv:UnspecifiedMatching -OMIM:602786 HIST1H2AE skos:exactMatch ncbigene:3012 semapv:UnspecifiedMatching OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:H2AC8 semapv:UnspecifiedMatching -OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:H2AC13 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch ncbigene:3012 semapv:UnspecifiedMatching OMIM:602787 HIST1H2AI skos:exactMatch ncbigene:8329 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:H2AC13 semapv:UnspecifiedMatching OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:H2AC15 semapv:UnspecifiedMatching OMIM:602788 HIST1H2AK skos:exactMatch ncbigene:8330 semapv:UnspecifiedMatching OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:FHL3 semapv:UnspecifiedMatching @@ -14498,36 +14502,36 @@ OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:H2AC14 semapv:UnspecifiedMatch OMIM:602791 HIST1H2AJ skos:exactMatch ncbigene:8331 semapv:UnspecifiedMatching OMIM:602792 HIST1H2AD skos:exactMatch ncbigene:3013 semapv:UnspecifiedMatching OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:H2AC7 semapv:UnspecifiedMatching -OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:H2AC16 semapv:UnspecifiedMatching OMIM:602793 HIST1H2AL skos:exactMatch ncbigene:8332 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:H2AC16 semapv:UnspecifiedMatching OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:H2AC6 semapv:UnspecifiedMatching OMIM:602794 HIST1H2AC skos:exactMatch ncbigene:8334 semapv:UnspecifiedMatching OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:H2AC4 semapv:UnspecifiedMatching OMIM:602795 HIST1H2AB skos:exactMatch ncbigene:8335 semapv:UnspecifiedMatching OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:H2AC17 semapv:UnspecifiedMatching OMIM:602796 HIST1H2AM skos:exactMatch ncbigene:8336 semapv:UnspecifiedMatching -OMIM:602797 HIST2H2AC skos:exactMatch ncbigene:8338 semapv:UnspecifiedMatching OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:H2AC20 semapv:UnspecifiedMatching -OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:H2BC8 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch ncbigene:8338 semapv:UnspecifiedMatching OMIM:602798 HIST1H2BG skos:exactMatch ncbigene:8339 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:H2BC8 semapv:UnspecifiedMatching OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:H2BC5 semapv:UnspecifiedMatching OMIM:602799 HIST1H2BD skos:exactMatch ncbigene:3017 semapv:UnspecifiedMatching OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:H2BC13 semapv:UnspecifiedMatching OMIM:602800 HIST1H2BL skos:exactMatch ncbigene:8340 semapv:UnspecifiedMatching OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:H2BC15 semapv:UnspecifiedMatching OMIM:602801 HIST1H2BN skos:exactMatch ncbigene:8341 semapv:UnspecifiedMatching -OMIM:602802 HIST1H2BM skos:exactMatch ncbigene:8342 semapv:UnspecifiedMatching OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:H2BC14 semapv:UnspecifiedMatching -OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:H2BC3 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch ncbigene:8342 semapv:UnspecifiedMatching OMIM:602803 HIST1H2BB skos:exactMatch ncbigene:3018 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:H2BC3 semapv:UnspecifiedMatching OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:H2BC7 semapv:UnspecifiedMatching OMIM:602804 HIST1H2BF skos:exactMatch ncbigene:8343 semapv:UnspecifiedMatching OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:H2BC6 semapv:UnspecifiedMatching OMIM:602805 HIST1H2BE skos:exactMatch ncbigene:8344 semapv:UnspecifiedMatching OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:H2BC9 semapv:UnspecifiedMatching OMIM:602806 HIST1H2BH skos:exactMatch ncbigene:8345 semapv:UnspecifiedMatching -OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:H2BC10 semapv:UnspecifiedMatching OMIM:602807 HIST1H2BI skos:exactMatch ncbigene:8346 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:H2BC10 semapv:UnspecifiedMatching OMIM:602808 HIST1H2BO skos:exactMatch ncbigene:8348 semapv:UnspecifiedMatching OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:H2BC17 semapv:UnspecifiedMatching OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:KIF5B semapv:UnspecifiedMatching @@ -14536,8 +14540,8 @@ OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:H3C1 semapv:UnspecifiedMatching OMIM:602810 HIST1H3A skos:exactMatch ncbigene:8350 semapv:UnspecifiedMatching OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:H3C4 semapv:UnspecifiedMatching OMIM:602811 HIST1H3D skos:exactMatch ncbigene:8351 semapv:UnspecifiedMatching -OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:H3C3 semapv:UnspecifiedMatching OMIM:602812 HIST1H3C skos:exactMatch ncbigene:8352 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:H3C3 semapv:UnspecifiedMatching OMIM:602813 HIST1H3E skos:exactMatch ncbigene:8353 semapv:UnspecifiedMatching OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:H3C6 semapv:UnspecifiedMatching OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:H3C11 semapv:UnspecifiedMatching @@ -14566,22 +14570,22 @@ OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:H4C12 semapv:UnspecifiedMatching OMIM:602825 H4C12 skos:exactMatch ncbigene:8362 semapv:UnspecifiedMatching OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:H4C11 semapv:UnspecifiedMatching OMIM:602826 H4C11 skos:exactMatch ncbigene:8363 semapv:UnspecifiedMatching -OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:H4C3 semapv:UnspecifiedMatching OMIM:602827 H4C3 skos:exactMatch ncbigene:8364 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:H4C3 semapv:UnspecifiedMatching OMIM:602828 H4C8 skos:exactMatch ncbigene:8365 semapv:UnspecifiedMatching OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:H4C8 semapv:UnspecifiedMatching -OMIM:602829 H4C2 skos:exactMatch ncbigene:8366 semapv:UnspecifiedMatching OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:H4C2 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch ncbigene:8366 semapv:UnspecifiedMatching OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:H4C5 semapv:UnspecifiedMatching OMIM:602830 H4C5 skos:exactMatch ncbigene:8367 semapv:UnspecifiedMatching OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:H4C13 semapv:UnspecifiedMatching OMIM:602831 H4C13 skos:exactMatch ncbigene:8368 semapv:UnspecifiedMatching -OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:H4C7 semapv:UnspecifiedMatching OMIM:602832 H4C7 skos:exactMatch ncbigene:8369 semapv:UnspecifiedMatching -OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:H4C9 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:H4C7 semapv:UnspecifiedMatching OMIM:602833 H4C9 skos:exactMatch ncbigene:8294 semapv:UnspecifiedMatching -OMIM:602835 GAS2 skos:exactMatch ncbigene:2620 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:H4C9 semapv:UnspecifiedMatching OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:GAS2 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch ncbigene:2620 semapv:UnspecifiedMatching OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:P2RX5 semapv:UnspecifiedMatching OMIM:602836 P2RX5 skos:exactMatch ncbigene:5026 semapv:UnspecifiedMatching OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:DNAJA1 semapv:UnspecifiedMatching @@ -14590,30 +14594,30 @@ OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:PIK3C2B semapv:UnspecifiedMatchi OMIM:602838 PIK3C2B skos:exactMatch ncbigene:5287 semapv:UnspecifiedMatching OMIM:602839 PIK3CD skos:exactMatch ncbigene:5293 semapv:UnspecifiedMatching OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:PIK3CD semapv:UnspecifiedMatching -OMIM:602840 CD70 skos:exactMatch ncbigene:970 semapv:UnspecifiedMatching OMIM:602840 CD70 skos:exactMatch hgnc.symbol:CD70 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch ncbigene:970 semapv:UnspecifiedMatching OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:AOX1 semapv:UnspecifiedMatching OMIM:602841 AOX1 skos:exactMatch ncbigene:316 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch ncbigene:51053 semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch UMLS:C1333683 semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch hgnc.symbol:GMNN semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch ncbigene:51053 semapv:UnspecifiedMatching -OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:ARHGDIB semapv:UnspecifiedMatching OMIM:602843 ARHGDIB skos:exactMatch ncbigene:397 semapv:UnspecifiedMatching -OMIM:602844 ARHGDIG skos:exactMatch ncbigene:398 semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:ARHGDIB semapv:UnspecifiedMatching OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:ARHGDIG semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch ncbigene:398 semapv:UnspecifiedMatching OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:KIF3C semapv:UnspecifiedMatching OMIM:602845 KIF3C skos:exactMatch ncbigene:3797 semapv:UnspecifiedMatching OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:UBE2K semapv:UnspecifiedMatching OMIM:602846 UBE2K skos:exactMatch ncbigene:3093 semapv:UnspecifiedMatching OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:H2BC4 semapv:UnspecifiedMatching OMIM:602847 HIST1H2BC skos:exactMatch ncbigene:8347 semapv:UnspecifiedMatching -OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:BRD8 semapv:UnspecifiedMatching OMIM:602848 BRD8 skos:exactMatch ncbigene:10902 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:BRD8 semapv:UnspecifiedMatching OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:RNF4 semapv:UnspecifiedMatching OMIM:602850 RNF4 skos:exactMatch ncbigene:6047 semapv:UnspecifiedMatching -OMIM:602851 ADGRV1 skos:exactMatch ncbigene:84059 semapv:UnspecifiedMatching OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:ADGRV1 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch ncbigene:84059 semapv:UnspecifiedMatching OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:NUDT2 semapv:UnspecifiedMatching OMIM:602852 NUDT2 skos:exactMatch ncbigene:318 semapv:UnspecifiedMatching OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:PTPRR semapv:UnspecifiedMatching @@ -14622,34 +14626,34 @@ OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:PSMA1 semapv:UnspecifiedMatching OMIM:602854 PSMA1 skos:exactMatch ncbigene:5682 semapv:UnspecifiedMatching OMIM:602855 PSMA6 skos:exactMatch ncbigene:5687 semapv:UnspecifiedMatching OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:PSMA6 semapv:UnspecifiedMatching -OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:RGS10 semapv:UnspecifiedMatching OMIM:602856 RGS10 skos:exactMatch ncbigene:6001 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:RGS10 semapv:UnspecifiedMatching OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:CHN2 semapv:UnspecifiedMatching OMIM:602857 CHN2 skos:exactMatch ncbigene:1124 semapv:UnspecifiedMatching OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:DHCR7 semapv:UnspecifiedMatching OMIM:602858 DHCR7 skos:exactMatch ncbigene:1717 semapv:UnspecifiedMatching OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:PEX10 semapv:UnspecifiedMatching OMIM:602859 PEX10 skos:exactMatch ncbigene:5192 semapv:UnspecifiedMatching -OMIM:602860 BUB1B skos:exactMatch ncbigene:701 semapv:UnspecifiedMatching OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:BUB1B semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch ncbigene:701 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch ncbigene:5318 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:PKP2 semapv:UnspecifiedMatching OMIM:602861 PKP2 skos:exactMatch UMLS:C1418613 semapv:UnspecifiedMatching OMIM:602861 PKP2 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:PKP2 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch ncbigene:5318 semapv:UnspecifiedMatching OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:UAP1 semapv:UnspecifiedMatching OMIM:602862 UAP1 skos:exactMatch ncbigene:6675 semapv:UnspecifiedMatching -OMIM:602863 WNT9A skos:exactMatch ncbigene:7483 semapv:UnspecifiedMatching OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:WNT9A semapv:UnspecifiedMatching -OMIM:602864 WNT9B skos:exactMatch ncbigene:7484 semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch ncbigene:7483 semapv:UnspecifiedMatching OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:WNT9B semapv:UnspecifiedMatching -OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:BRINP1 semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch ncbigene:7484 semapv:UnspecifiedMatching OMIM:602865 BRINP1 skos:exactMatch ncbigene:1620 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:BRINP1 semapv:UnspecifiedMatching OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:ASIC1 semapv:UnspecifiedMatching OMIM:602866 ASIC1 skos:exactMatch ncbigene:41 semapv:UnspecifiedMatching OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:IGFBP7 semapv:UnspecifiedMatching OMIM:602867 IGFBP7 skos:exactMatch ncbigene:3490 semapv:UnspecifiedMatching -OMIM:602868 CDC5L skos:exactMatch ncbigene:988 semapv:UnspecifiedMatching OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:CDC5L semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch ncbigene:988 semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch ncbigene:3192 semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:HNRNPU semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch UMLS:C1415649 semapv:UnspecifiedMatching @@ -14660,40 +14664,40 @@ OMIM:602871 PPL skos:exactMatch hgnc.symbol:PPL semapv:UnspecifiedMatching OMIM:602871 PPL skos:exactMatch ncbigene:5493 semapv:UnspecifiedMatching OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:CLIC1 semapv:UnspecifiedMatching OMIM:602872 CLIC1 skos:exactMatch ncbigene:1192 semapv:UnspecifiedMatching -OMIM:602873 NRAP skos:exactMatch ncbigene:4892 semapv:UnspecifiedMatching OMIM:602873 NRAP skos:exactMatch hgnc.symbol:NRAP semapv:UnspecifiedMatching -OMIM:602874 UGCG skos:exactMatch ncbigene:7357 semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch ncbigene:4892 semapv:UnspecifiedMatching OMIM:602874 UGCG skos:exactMatch hgnc.symbol:UGCG semapv:UnspecifiedMatching -OMIM:602876 OCLN skos:exactMatch hgnc.symbol:OCLN semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch ncbigene:7357 semapv:UnspecifiedMatching OMIM:602876 OCLN skos:exactMatch ncbigene:100506658 semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch hgnc.symbol:OCLN semapv:UnspecifiedMatching OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:PPP1R7 semapv:UnspecifiedMatching OMIM:602877 PPP1R7 skos:exactMatch ncbigene:5510 semapv:UnspecifiedMatching -OMIM:602878 SLC30A3 skos:exactMatch ncbigene:7781 semapv:UnspecifiedMatching OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:SLC30A3 semapv:UnspecifiedMatching -OMIM:602879 EPB41L1 skos:exactMatch ncbigene:2036 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch ncbigene:7781 semapv:UnspecifiedMatching OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:EPB41L1 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:GDF1 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch ncbigene:2036 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch ncbigene:2657 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:GDF1 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C0040761 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C1415031 semapv:UnspecifiedMatching OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:PHF1 semapv:UnspecifiedMatching OMIM:602881 PHF1 skos:exactMatch ncbigene:5252 semapv:UnspecifiedMatching -OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:LECT2 semapv:UnspecifiedMatching OMIM:602882 LECT2 skos:exactMatch ncbigene:3950 semapv:UnspecifiedMatching -OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:SLCO1A2 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:LECT2 semapv:UnspecifiedMatching OMIM:602883 SLCO1A2 skos:exactMatch ncbigene:6579 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:SLCO1A2 semapv:UnspecifiedMatching OMIM:602884 GMDS skos:exactMatch hgnc.symbol:GMDS semapv:UnspecifiedMatching OMIM:602884 GMDS skos:exactMatch ncbigene:2762 semapv:UnspecifiedMatching OMIM:602885 MLNR skos:exactMatch hgnc.symbol:MLNR semapv:UnspecifiedMatching OMIM:602885 MLNR skos:exactMatch ncbigene:2862 semapv:UnspecifiedMatching -OMIM:602886 GPR39 skos:exactMatch ncbigene:2863 semapv:UnspecifiedMatching OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:GPR39 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:DLG4 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch ncbigene:2863 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch ncbigene:1742 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:DLG4 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch UMLS:C1333226 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching OMIM:602888 BHMT skos:exactMatch hgnc.symbol:BHMT semapv:UnspecifiedMatching @@ -14706,50 +14710,50 @@ OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:KLRC3 semapv:UnspecifiedMatching OMIM:602892 KLRC3 skos:exactMatch ncbigene:3823 semapv:UnspecifiedMatching OMIM:602893 KLRC4 skos:exactMatch ncbigene:8302 semapv:UnspecifiedMatching OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:KLRC4 semapv:UnspecifiedMatching -OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:KLRD1 semapv:UnspecifiedMatching OMIM:602894 KLRD1 skos:exactMatch ncbigene:3824 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:KLRD1 semapv:UnspecifiedMatching OMIM:602895 SAFB skos:exactMatch hgnc.symbol:SAFB semapv:UnspecifiedMatching OMIM:602895 SAFB skos:exactMatch ncbigene:6294 semapv:UnspecifiedMatching OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:MAPK9 semapv:UnspecifiedMatching OMIM:602896 MAPK9 skos:exactMatch ncbigene:5601 semapv:UnspecifiedMatching OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:MAPK10 semapv:UnspecifiedMatching OMIM:602897 MAPK10 skos:exactMatch ncbigene:5602 semapv:UnspecifiedMatching -OMIM:602898 MAPK11 skos:exactMatch ncbigene:5600 semapv:UnspecifiedMatching OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:MAPK11 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch ncbigene:5600 semapv:UnspecifiedMatching OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:MAPK13 semapv:UnspecifiedMatching OMIM:602899 MAPK13 skos:exactMatch ncbigene:5603 semapv:UnspecifiedMatching -OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:DNMT3B semapv:UnspecifiedMatching OMIM:602900 DNMT3B skos:exactMatch ncbigene:1789 semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:DNMT3B semapv:UnspecifiedMatching OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:TNPO1 semapv:UnspecifiedMatching OMIM:602901 TNPO1 skos:exactMatch ncbigene:3842 semapv:UnspecifiedMatching OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:KLF9 semapv:UnspecifiedMatching OMIM:602902 KLF9 skos:exactMatch ncbigene:687 semapv:UnspecifiedMatching -OMIM:602903 KLF5 skos:exactMatch ncbigene:688 semapv:UnspecifiedMatching OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:KLF5 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch ncbigene:688 semapv:UnspecifiedMatching OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:MAPK6 semapv:UnspecifiedMatching OMIM:602904 MAPK6 skos:exactMatch ncbigene:5597 semapv:UnspecifiedMatching -OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:KCNS1 semapv:UnspecifiedMatching OMIM:602905 KCNS1 skos:exactMatch ncbigene:3787 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:KCNS1 semapv:UnspecifiedMatching OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:KCNS2 semapv:UnspecifiedMatching OMIM:602906 KCNS2 skos:exactMatch ncbigene:3788 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch ncbigene:1070 semapv:UnspecifiedMatching OMIM:602907 CETN3 skos:exactMatch UMLS:C1413352 semapv:UnspecifiedMatching OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:CETN3 semapv:UnspecifiedMatching -OMIM:602908 RBBP9 skos:exactMatch ncbigene:10741 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch ncbigene:1070 semapv:UnspecifiedMatching OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:RBBP9 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch ncbigene:10741 semapv:UnspecifiedMatching OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:CLDN4 semapv:UnspecifiedMatching OMIM:602909 CLDN4 skos:exactMatch ncbigene:1364 semapv:UnspecifiedMatching -OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:CLDN3 semapv:UnspecifiedMatching OMIM:602910 CLDN3 skos:exactMatch ncbigene:1365 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:CLDN3 semapv:UnspecifiedMatching OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:CACNG2 semapv:UnspecifiedMatching OMIM:602911 CACNG2 skos:exactMatch ncbigene:10369 semapv:UnspecifiedMatching OMIM:602912 EIF6 skos:exactMatch UMLS:C1416500 semapv:UnspecifiedMatching OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:EIF6 semapv:UnspecifiedMatching OMIM:602912 EIF6 skos:exactMatch ncbigene:3692 semapv:UnspecifiedMatching -OMIM:602913 PLK3 skos:exactMatch ncbigene:1263 semapv:UnspecifiedMatching OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:PLK3 semapv:UnspecifiedMatching -OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:AQP9 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch ncbigene:1263 semapv:UnspecifiedMatching OMIM:602914 AQP9 skos:exactMatch ncbigene:366 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:AQP9 semapv:UnspecifiedMatching OMIM:602915 GET1 skos:exactMatch hgnc.symbol:GET1 semapv:UnspecifiedMatching OMIM:602915 GET1 skos:exactMatch ncbigene:7485 semapv:UnspecifiedMatching OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:UBE2E1 semapv:UnspecifiedMatching @@ -14758,8 +14762,8 @@ OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:RCAN1 semapv:UnspecifiedMatching OMIM:602917 RCAN1 skos:exactMatch ncbigene:1827 semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch ncbigene:2193 semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch hgnc.symbol:FARSA semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch UMLS:C1414534 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:DOK1 semapv:UnspecifiedMatching OMIM:602919 DOK1 skos:exactMatch ncbigene:1796 semapv:UnspecifiedMatching OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:LASP1 semapv:UnspecifiedMatching @@ -14786,8 +14790,8 @@ OMIM:602929 VWA5A skos:exactMatch ncbigene:4013 semapv:UnspecifiedMatching OMIM:602930 REXO4 skos:exactMatch UMLS:C1826806 semapv:UnspecifiedMatching OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:REXO4 semapv:UnspecifiedMatching OMIM:602930 REXO4 skos:exactMatch ncbigene:57109 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch ncbigene:4091 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:SMAD6 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch ncbigene:4091 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C4479677 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C3542024 semapv:UnspecifiedMatching @@ -14813,20 +14817,20 @@ OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:MARCKSL1 semapv:UnspecifiedMatc OMIM:602941 BCAR1 skos:exactMatch UMLS:C1366459 semapv:UnspecifiedMatching OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:BCAR1 semapv:UnspecifiedMatching OMIM:602941 BCAR1 skos:exactMatch ncbigene:9564 semapv:UnspecifiedMatching -OMIM:602942 EVI5 skos:exactMatch ncbigene:7813 semapv:UnspecifiedMatching OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:EVI5 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch ncbigene:7813 semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch hgnc.symbol:RORC semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch ncbigene:6097 semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch UMLS:C1419603 semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch UMLS:C4225266 semapv:UnspecifiedMatching -OMIM:602944 E2F6 skos:exactMatch ncbigene:1876 semapv:UnspecifiedMatching OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:E2F6 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch ncbigene:1876 semapv:UnspecifiedMatching OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:TADA3 semapv:UnspecifiedMatching OMIM:602945 TADA3 skos:exactMatch ncbigene:10474 semapv:UnspecifiedMatching OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:TAF6L semapv:UnspecifiedMatching OMIM:602946 TAF6L skos:exactMatch ncbigene:10629 semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch UMLS:C0812266 semapv:UnspecifiedMatching OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:SUPT3H semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch UMLS:C0812266 semapv:UnspecifiedMatching OMIM:602947 SUPT3H skos:exactMatch ncbigene:8464 semapv:UnspecifiedMatching OMIM:602948 RAD51B skos:exactMatch ncbigene:5890 semapv:UnspecifiedMatching OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:RAD51B semapv:UnspecifiedMatching @@ -14836,10 +14840,10 @@ OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:PRMT1 semapv:UnspecifiedMatching OMIM:602950 PRMT1 skos:exactMatch ncbigene:3276 semapv:UnspecifiedMatching OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:ZFP37 semapv:UnspecifiedMatching OMIM:602951 ZFP37 skos:exactMatch ncbigene:7539 semapv:UnspecifiedMatching -OMIM:602952 NSD2 skos:exactMatch ncbigene:7468 semapv:UnspecifiedMatching OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:NSD2 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:HEY1 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch ncbigene:7468 semapv:UnspecifiedMatching OMIM:602953 HEY1 skos:exactMatch ncbigene:23462 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:HEY1 semapv:UnspecifiedMatching OMIM:602953 HEY1 skos:exactMatch UMLS:C1415524 semapv:UnspecifiedMatching OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:RAD51D semapv:UnspecifiedMatching OMIM:602954 RAD51D skos:exactMatch ncbigene:5892 semapv:UnspecifiedMatching @@ -14858,42 +14862,42 @@ OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:EEF1A2 semapv:UnspecifiedMatching OMIM:602959 EEF1A2 skos:exactMatch ncbigene:1917 semapv:UnspecifiedMatching OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:UBE2D1 semapv:UnspecifiedMatching OMIM:602961 UBE2D1 skos:exactMatch ncbigene:7321 semapv:UnspecifiedMatching -OMIM:602962 UBE2D2 skos:exactMatch ncbigene:7322 semapv:UnspecifiedMatching OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:UBE2D2 semapv:UnspecifiedMatching -OMIM:602963 UBE2D3 skos:exactMatch ncbigene:7323 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch ncbigene:7322 semapv:UnspecifiedMatching OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:UBE2D3 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch ncbigene:7323 semapv:UnspecifiedMatching OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:TSNAX semapv:UnspecifiedMatching OMIM:602964 TSNAX skos:exactMatch ncbigene:7257 semapv:UnspecifiedMatching OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:FABP7 semapv:UnspecifiedMatching OMIM:602965 FABP7 skos:exactMatch ncbigene:2173 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching OMIM:602967 ZNF217 skos:exactMatch ncbigene:7764 semapv:UnspecifiedMatching -OMIM:602968 BCAS1 skos:exactMatch ncbigene:8537 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:BCAS1 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch ncbigene:8537 semapv:UnspecifiedMatching OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:ESRRG semapv:UnspecifiedMatching OMIM:602969 ESRRG skos:exactMatch ncbigene:2104 semapv:UnspecifiedMatching OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:KPNA4 semapv:UnspecifiedMatching OMIM:602970 KPNA4 skos:exactMatch ncbigene:3840 semapv:UnspecifiedMatching OMIM:602971 TBCC skos:exactMatch hgnc.symbol:TBCC semapv:UnspecifiedMatching OMIM:602971 TBCC skos:exactMatch ncbigene:6903 semapv:UnspecifiedMatching -OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:PDE8A semapv:UnspecifiedMatching OMIM:602972 PDE8A skos:exactMatch ncbigene:5151 semapv:UnspecifiedMatching -OMIM:602973 PDE9A skos:exactMatch ncbigene:5152 semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:PDE8A semapv:UnspecifiedMatching OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:PDE9A semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch ncbigene:5152 semapv:UnspecifiedMatching OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:AQP7 semapv:UnspecifiedMatching OMIM:602974 AQP7 skos:exactMatch ncbigene:364 semapv:UnspecifiedMatching OMIM:602976 MLX skos:exactMatch hgnc.symbol:MLX semapv:UnspecifiedMatching OMIM:602976 MLX skos:exactMatch ncbigene:6945 semapv:UnspecifiedMatching OMIM:602977 GP2 skos:exactMatch hgnc.symbol:GP2 semapv:UnspecifiedMatching OMIM:602977 GP2 skos:exactMatch ncbigene:2813 semapv:UnspecifiedMatching -OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:PHC1 semapv:UnspecifiedMatching OMIM:602978 PHC1 skos:exactMatch ncbigene:1911 semapv:UnspecifiedMatching -OMIM:602979 PHC2 skos:exactMatch ncbigene:1912 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:PHC1 semapv:UnspecifiedMatching OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:PHC2 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch ncbigene:1912 semapv:UnspecifiedMatching OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:SRPK2 semapv:UnspecifiedMatching OMIM:602980 SRPK2 skos:exactMatch ncbigene:6733 semapv:UnspecifiedMatching OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:AEBP1 semapv:UnspecifiedMatching @@ -14902,24 +14906,24 @@ OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:KCNN1 semapv:UnspecifiedMatching OMIM:602982 KCNN1 skos:exactMatch ncbigene:3780 semapv:UnspecifiedMatching OMIM:602983 KCNN3 skos:exactMatch ncbigene:3782 semapv:UnspecifiedMatching OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:KCNN3 semapv:UnspecifiedMatching -OMIM:602984 MED6 skos:exactMatch ncbigene:10001 semapv:UnspecifiedMatching OMIM:602984 MED6 skos:exactMatch hgnc.symbol:MED6 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch ncbigene:10001 semapv:UnspecifiedMatching OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:NDUFS2 semapv:UnspecifiedMatching OMIM:602985 NDUFS2 skos:exactMatch ncbigene:4720 semapv:UnspecifiedMatching OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:DRG2 semapv:UnspecifiedMatching OMIM:602986 DRG2 skos:exactMatch ncbigene:1819 semapv:UnspecifiedMatching -OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:PDE1C semapv:UnspecifiedMatching OMIM:602987 PDE1C skos:exactMatch ncbigene:5137 semapv:UnspecifiedMatching -OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:PCDH7 semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:PDE1C semapv:UnspecifiedMatching OMIM:602988 PCDH7 skos:exactMatch ncbigene:5099 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:PCDH7 semapv:UnspecifiedMatching OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:CLK2 semapv:UnspecifiedMatching OMIM:602989 CLK2 skos:exactMatch ncbigene:1196 semapv:UnspecifiedMatching OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:CLK3 semapv:UnspecifiedMatching OMIM:602990 CLK3 skos:exactMatch ncbigene:1198 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch ncbigene:9241 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch hgnc.symbol:NOG semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C3714899 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch ncbigene:9241 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1417753 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching @@ -14939,12 +14943,12 @@ OMIM:602997 CUBN skos:exactMatch hgnc.symbol:CUBN semapv:UnspecifiedMatching OMIM:602997 CUBN skos:exactMatch ncbigene:8029 semapv:UnspecifiedMatching OMIM:602998 SNCG skos:exactMatch hgnc.symbol:SNCG semapv:UnspecifiedMatching OMIM:602998 SNCG skos:exactMatch ncbigene:6623 semapv:UnspecifiedMatching -OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:PPP1R3C semapv:UnspecifiedMatching OMIM:602999 PPP1R3C skos:exactMatch ncbigene:5507 semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:PPP1R3C semapv:UnspecifiedMatching OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:MRPL58 semapv:UnspecifiedMatching OMIM:603000 MRPL58 skos:exactMatch ncbigene:3396 semapv:UnspecifiedMatching -OMIM:603001 UBE2V2 skos:exactMatch ncbigene:7336 semapv:UnspecifiedMatching OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:UBE2V2 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch ncbigene:7336 semapv:UnspecifiedMatching OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:TNPO2 semapv:UnspecifiedMatching OMIM:603002 TNPO2 skos:exactMatch ncbigene:30000 semapv:UnspecifiedMatching OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:NIPSNAP2 semapv:UnspecifiedMatching @@ -14957,22 +14961,22 @@ OMIM:603007 CDH6 skos:exactMatch ncbigene:1004 semapv:UnspecifiedMatching OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:CDH6 semapv:UnspecifiedMatching OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:CDH8 semapv:UnspecifiedMatching OMIM:603008 CDH8 skos:exactMatch ncbigene:1006 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1414209 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch hgnc.symbol:DYSF semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch ncbigene:8291 semapv:UnspecifiedMatching -OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1414209 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:SERF1A semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:HSPA1B semapv:UnspecifiedMatching OMIM:603012 HSPA1B skos:exactMatch ncbigene:3304 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:MAP2K7 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch ncbigene:5609 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:TRRAP semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch ncbigene:8295 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193229 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:TRRAP semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193193 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C1336677 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193194 semapv:UnspecifiedMatching @@ -14982,10 +14986,10 @@ OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:CDH17 semapv:UnspecifiedMatching OMIM:603017 CDH17 skos:exactMatch ncbigene:1015 semapv:UnspecifiedMatching OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:B3GALT2 semapv:UnspecifiedMatching OMIM:603018 B3GALT2 skos:exactMatch ncbigene:8707 semapv:UnspecifiedMatching -OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:CDH18 semapv:UnspecifiedMatching OMIM:603019 CDH18 skos:exactMatch ncbigene:1016 semapv:UnspecifiedMatching -OMIM:603020 AFG3L1P skos:exactMatch ncbigene:172 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:CDH18 semapv:UnspecifiedMatching OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:AFG3L1P semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch ncbigene:172 semapv:UnspecifiedMatching OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:MRPS12 semapv:UnspecifiedMatching OMIM:603021 MRPS12 skos:exactMatch ncbigene:6183 semapv:UnspecifiedMatching OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:E4F1 semapv:UnspecifiedMatching @@ -14993,53 +14997,53 @@ OMIM:603022 E4F1 skos:exactMatch ncbigene:1877 semapv:UnspecifiedMatching OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:IKZF1 semapv:UnspecifiedMatching OMIM:603023 IKZF1 skos:exactMatch ncbigene:10320 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch ncbigene:8289 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch UMLS:C4310916 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:ARID1A semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch UMLS:C3553247 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch UMLS:C1420251 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch UMLS:C4310916 semapv:UnspecifiedMatching OMIM:603025 PICALM skos:exactMatch hgnc.symbol:PICALM semapv:UnspecifiedMatching OMIM:603025 PICALM skos:exactMatch ncbigene:8301 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:PLAG1 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch UMLS:C1418629 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:PLAG1 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch ncbigene:5324 semapv:UnspecifiedMatching OMIM:603027 FBP2 skos:exactMatch ncbigene:8789 semapv:UnspecifiedMatching OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:FBP2 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch ncbigene:7097 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:TLR2 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1336634 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1858438 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:TLR2 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch ncbigene:7097 semapv:UnspecifiedMatching OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:TLR3 semapv:UnspecifiedMatching OMIM:603029 TLR3 skos:exactMatch ncbigene:7098 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch UMLS:C1336636 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch UMLS:C4310915 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:TLR4 semapv:UnspecifiedMatching OMIM:603030 TLR4 skos:exactMatch ncbigene:7099 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:TLR4 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch UMLS:C4310915 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch UMLS:C1336636 semapv:UnspecifiedMatching OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:TLR5 semapv:UnspecifiedMatching OMIM:603031 TLR5 skos:exactMatch ncbigene:7100 semapv:UnspecifiedMatching OMIM:603032 SNN skos:exactMatch hgnc.symbol:SNN semapv:UnspecifiedMatching OMIM:603032 SNN skos:exactMatch ncbigene:8303 semapv:UnspecifiedMatching OMIM:603033 COLQ skos:exactMatch hgnc.symbol:COLQ semapv:UnspecifiedMatching OMIM:603033 COLQ skos:exactMatch ncbigene:8292 semapv:UnspecifiedMatching -OMIM:603035 IL16 skos:exactMatch hgnc.symbol:IL16 semapv:UnspecifiedMatching OMIM:603035 IL16 skos:exactMatch ncbigene:3603 semapv:UnspecifiedMatching -OMIM:603037 LEFTY1 skos:exactMatch ncbigene:10637 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch hgnc.symbol:IL16 semapv:UnspecifiedMatching OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:LEFTY1 semapv:UnspecifiedMatching -OMIM:603038 SPAG4 skos:exactMatch ncbigene:6676 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch ncbigene:10637 semapv:UnspecifiedMatching OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:SPAG4 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch ncbigene:6676 semapv:UnspecifiedMatching OMIM:603039 MNT skos:exactMatch hgnc.symbol:MNT semapv:UnspecifiedMatching OMIM:603039 MNT skos:exactMatch ncbigene:4335 semapv:UnspecifiedMatching -OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C4551995 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching -OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:SUMO2 semapv:UnspecifiedMatching OMIM:603042 SUMO2 skos:exactMatch ncbigene:6613 semapv:UnspecifiedMatching -OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:NSMAF semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:SUMO2 semapv:UnspecifiedMatching OMIM:603043 NSMAF skos:exactMatch ncbigene:8439 semapv:UnspecifiedMatching -OMIM:603044 PLAGL1 skos:exactMatch ncbigene:5325 semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:NSMAF semapv:UnspecifiedMatching OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:PLAGL1 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch ncbigene:5325 semapv:UnspecifiedMatching OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:RNF139 semapv:UnspecifiedMatching OMIM:603046 RNF139 skos:exactMatch ncbigene:11236 semapv:UnspecifiedMatching OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:GPAA1 semapv:UnspecifiedMatching @@ -15076,8 +15080,8 @@ OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:BDH1 semapv:UnspecifiedMatching OMIM:603063 BDH1 skos:exactMatch ncbigene:622 semapv:UnspecifiedMatching OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:UGT2B11 semapv:UnspecifiedMatching OMIM:603064 UGT2B11 skos:exactMatch ncbigene:10720 semapv:UnspecifiedMatching -OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:NR1I2 semapv:UnspecifiedMatching OMIM:603065 NR1I2 skos:exactMatch ncbigene:8856 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:NR1I2 semapv:UnspecifiedMatching OMIM:603066 PLOD3 skos:exactMatch ncbigene:8985 semapv:UnspecifiedMatching OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:PLOD3 semapv:UnspecifiedMatching OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:DUSP2 semapv:UnspecifiedMatching @@ -15108,124 +15112,124 @@ OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:HNRNPL semapv:UnspecifiedMatching OMIM:603083 HNRNPL skos:exactMatch ncbigene:3191 semapv:UnspecifiedMatching OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:DARS1 semapv:UnspecifiedMatching OMIM:603084 DARS1 skos:exactMatch ncbigene:1615 semapv:UnspecifiedMatching -OMIM:603085 SLC31A1 skos:exactMatch ncbigene:1317 semapv:UnspecifiedMatching OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:SLC31A1 semapv:UnspecifiedMatching -OMIM:603086 ART3 skos:exactMatch ncbigene:419 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch ncbigene:1317 semapv:UnspecifiedMatching OMIM:603086 ART3 skos:exactMatch hgnc.symbol:ART3 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch ncbigene:419 semapv:UnspecifiedMatching OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:SLC31A2 semapv:UnspecifiedMatching OMIM:603088 SLC31A2 skos:exactMatch ncbigene:1318 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch UMLS:C1332380 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:BAP1 semapv:UnspecifiedMatching OMIM:603089 BAP1 skos:exactMatch ncbigene:8314 semapv:UnspecifiedMatching -OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:UCHL3 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch UMLS:C1332380 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching OMIM:603090 UCHL3 skos:exactMatch ncbigene:7347 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:UCHL3 semapv:UnspecifiedMatching OMIM:603091 USP12 skos:exactMatch hgnc.symbol:USP12 semapv:UnspecifiedMatching OMIM:603091 USP12 skos:exactMatch ncbigene:219333 semapv:UnspecifiedMatching -OMIM:603092 DUSP11 skos:exactMatch ncbigene:8446 semapv:UnspecifiedMatching OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:DUSP11 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch ncbigene:8446 semapv:UnspecifiedMatching OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:B3GALT1 semapv:UnspecifiedMatching OMIM:603093 B3GALT1 skos:exactMatch ncbigene:8708 semapv:UnspecifiedMatching OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:B3GALNT1 semapv:UnspecifiedMatching OMIM:603094 B3GALNT1 skos:exactMatch ncbigene:8706 semapv:UnspecifiedMatching -OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:B3GALT4 semapv:UnspecifiedMatching OMIM:603095 B3GALT4 skos:exactMatch ncbigene:8705 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:B3GALT4 semapv:UnspecifiedMatching OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:ATP6V1C1 semapv:UnspecifiedMatching OMIM:603097 ATP6V1C1 skos:exactMatch ncbigene:528 semapv:UnspecifiedMatching -OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:AGPAT1 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:AGPAT2 semapv:UnspecifiedMatching OMIM:603100 AGPAT2 skos:exactMatch ncbigene:10555 semapv:UnspecifiedMatching OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:CPB2 semapv:UnspecifiedMatching OMIM:603101 CPB2 skos:exactMatch ncbigene:1361 semapv:UnspecifiedMatching -OMIM:603102 CPD skos:exactMatch hgnc.symbol:CPD semapv:UnspecifiedMatching OMIM:603102 CPD skos:exactMatch ncbigene:1362 semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch hgnc.symbol:CPD semapv:UnspecifiedMatching OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:CPN1 semapv:UnspecifiedMatching OMIM:603103 CPN1 skos:exactMatch ncbigene:1369 semapv:UnspecifiedMatching -OMIM:603104 CPN2 skos:exactMatch ncbigene:1370 semapv:UnspecifiedMatching OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:CPN2 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch ncbigene:1370 semapv:UnspecifiedMatching OMIM:603105 CPZ skos:exactMatch hgnc.symbol:CPZ semapv:UnspecifiedMatching OMIM:603105 CPZ skos:exactMatch ncbigene:8532 semapv:UnspecifiedMatching -OMIM:603106 NNAT skos:exactMatch hgnc.symbol:NNAT semapv:UnspecifiedMatching OMIM:603106 NNAT skos:exactMatch ncbigene:4826 semapv:UnspecifiedMatching -OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:TCF20 semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch hgnc.symbol:NNAT semapv:UnspecifiedMatching OMIM:603107 TCF20 skos:exactMatch ncbigene:6942 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:TCF20 semapv:UnspecifiedMatching OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:MAPRE1 semapv:UnspecifiedMatching OMIM:603108 MAPRE1 skos:exactMatch ncbigene:22919 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch ncbigene:4088 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:SMAD3 semapv:UnspecifiedMatching OMIM:603109 SMAD3 skos:exactMatch UMLS:C0919432 semapv:UnspecifiedMatching OMIM:603109 SMAD3 skos:exactMatch UMLS:C3151087 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch UMLS:C1416963 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:SMAD3 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch ncbigene:4088 semapv:UnspecifiedMatching OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:SMAD5 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch UMLS:C1416963 semapv:UnspecifiedMatching OMIM:603110 SMAD5 skos:exactMatch ncbigene:4090 semapv:UnspecifiedMatching -OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:SMARCE1 semapv:UnspecifiedMatching OMIM:603111 SMARCE1 skos:exactMatch ncbigene:6605 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:SMARCE1 semapv:UnspecifiedMatching OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:S100A12 semapv:UnspecifiedMatching OMIM:603112 S100A12 skos:exactMatch ncbigene:6283 semapv:UnspecifiedMatching -OMIM:603113 PPP2R1B skos:exactMatch ncbigene:5519 semapv:UnspecifiedMatching OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:PPP2R1B semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch ncbigene:5519 semapv:UnspecifiedMatching OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:S100A11 semapv:UnspecifiedMatching OMIM:603114 S100A11 skos:exactMatch ncbigene:6282 semapv:UnspecifiedMatching OMIM:603115 DHX9 skos:exactMatch UMLS:C1413966 semapv:UnspecifiedMatching OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:DHX9 semapv:UnspecifiedMatching OMIM:603115 DHX9 skos:exactMatch ncbigene:1660 semapv:UnspecifiedMatching -OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:CDH16 semapv:UnspecifiedMatching OMIM:603118 CDH16 skos:exactMatch ncbigene:1014 semapv:UnspecifiedMatching -OMIM:603120 QSOX1 skos:exactMatch ncbigene:5768 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:CDH16 semapv:UnspecifiedMatching OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:QSOX1 semapv:UnspecifiedMatching -OMIM:603122 DOCK2 skos:exactMatch ncbigene:1794 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch ncbigene:5768 semapv:UnspecifiedMatching OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:DOCK2 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch ncbigene:1794 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch UMLS:C1414129 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:DOCK3 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch ncbigene:1795 semapv:UnspecifiedMatching -OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:UBE2G2 semapv:UnspecifiedMatching OMIM:603124 UBE2G2 skos:exactMatch ncbigene:7327 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:UBE2G2 semapv:UnspecifiedMatching OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:TPST1 semapv:UnspecifiedMatching OMIM:603125 TPST1 skos:exactMatch ncbigene:8460 semapv:UnspecifiedMatching OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:TPST2 semapv:UnspecifiedMatching OMIM:603126 TPST2 skos:exactMatch ncbigene:8459 semapv:UnspecifiedMatching OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:GAS7 semapv:UnspecifiedMatching OMIM:603127 GAS7 skos:exactMatch ncbigene:8522 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch UMLS:C1420067 semapv:UnspecifiedMatching OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:SIM1 semapv:UnspecifiedMatching OMIM:603128 SIM1 skos:exactMatch ncbigene:6492 semapv:UnspecifiedMatching -OMIM:603129 LMO4 skos:exactMatch ncbigene:8543 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch UMLS:C1420067 semapv:UnspecifiedMatching OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:LMO4 semapv:UnspecifiedMatching -OMIM:603130 ATRN skos:exactMatch ncbigene:8455 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch ncbigene:8543 semapv:UnspecifiedMatching OMIM:603130 ATRN skos:exactMatch hgnc.symbol:ATRN semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch ncbigene:8455 semapv:UnspecifiedMatching OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:PMPCB semapv:UnspecifiedMatching OMIM:603131 PMPCB skos:exactMatch ncbigene:9512 semapv:UnspecifiedMatching OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:ZNF189 semapv:UnspecifiedMatching OMIM:603132 ZNF189 skos:exactMatch ncbigene:7743 semapv:UnspecifiedMatching -OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:CUL1 semapv:UnspecifiedMatching OMIM:603134 CUL1 skos:exactMatch ncbigene:8454 semapv:UnspecifiedMatching -OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:CUL2 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:CUL1 semapv:UnspecifiedMatching OMIM:603135 CUL2 skos:exactMatch ncbigene:8453 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch ncbigene:8452 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:CUL3 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:CUL2 semapv:UnspecifiedMatching OMIM:603136 CUL3 skos:exactMatch UMLS:C1332811 semapv:UnspecifiedMatching OMIM:603136 CUL3 skos:exactMatch UMLS:C3469606 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:CUL3 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch ncbigene:8452 semapv:UnspecifiedMatching OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:CUL4A semapv:UnspecifiedMatching OMIM:603137 CUL4A skos:exactMatch ncbigene:8451 semapv:UnspecifiedMatching OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:RAD17 semapv:UnspecifiedMatching OMIM:603139 RAD17 skos:exactMatch ncbigene:5884 semapv:UnspecifiedMatching -OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:PIP4K2A semapv:UnspecifiedMatching OMIM:603140 PIP4K2A skos:exactMatch ncbigene:5305 semapv:UnspecifiedMatching -OMIM:603141 PPFIBP1 skos:exactMatch ncbigene:8496 semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:PIP4K2A semapv:UnspecifiedMatching OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:PPFIBP1 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch ncbigene:8496 semapv:UnspecifiedMatching OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:PPFIBP2 semapv:UnspecifiedMatching OMIM:603142 PPFIBP2 skos:exactMatch ncbigene:8495 semapv:UnspecifiedMatching OMIM:603143 PPFIA2 skos:exactMatch UMLS:C1418786 semapv:UnspecifiedMatching OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:PPFIA2 semapv:UnspecifiedMatching OMIM:603143 PPFIA2 skos:exactMatch ncbigene:8499 semapv:UnspecifiedMatching -OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:PPFIA3 semapv:UnspecifiedMatching OMIM:603144 PPFIA3 skos:exactMatch ncbigene:8541 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:PPFIA3 semapv:UnspecifiedMatching OMIM:603145 PPFIA4 skos:exactMatch ncbigene:8497 semapv:UnspecifiedMatching OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:PPFIA4 semapv:UnspecifiedMatching -OMIM:603146 PSMD9 skos:exactMatch ncbigene:5715 semapv:UnspecifiedMatching OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:PSMD9 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch ncbigene:5715 semapv:UnspecifiedMatching OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:ATF3 semapv:UnspecifiedMatching @@ -15235,27 +15239,27 @@ OMIM:603149 IL17A skos:exactMatch hgnc.symbol:IL17A semapv:UnspecifiedMatching OMIM:603149 IL17A skos:exactMatch ncbigene:3605 semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch ncbigene:513 semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:ATP5F1D semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch UMLS:C1412658 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:SEPTIN7 semapv:UnspecifiedMatching OMIM:603151 SEPT7 skos:exactMatch ncbigene:989 semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch ncbigene:522 semapv:UnspecifiedMatching OMIM:603152 ATP5PF skos:exactMatch UMLS:C1412668 semapv:UnspecifiedMatching OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:ATP5PF semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch ncbigene:522 semapv:UnspecifiedMatching -OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:RAD1 semapv:UnspecifiedMatching OMIM:603153 RAD1 skos:exactMatch ncbigene:5810 semapv:UnspecifiedMatching -OMIM:603154 PNN skos:exactMatch ncbigene:5411 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:RAD1 semapv:UnspecifiedMatching OMIM:603154 PNN skos:exactMatch hgnc.symbol:PNN semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch ncbigene:5411 semapv:UnspecifiedMatching OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:PTPN14 semapv:UnspecifiedMatching OMIM:603155 PTPN14 skos:exactMatch ncbigene:5784 semapv:UnspecifiedMatching OMIM:603156 BPHL skos:exactMatch hgnc.symbol:BPHL semapv:UnspecifiedMatching OMIM:603156 BPHL skos:exactMatch ncbigene:670 semapv:UnspecifiedMatching OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:PIK3R2 semapv:UnspecifiedMatching OMIM:603157 PIK3R2 skos:exactMatch ncbigene:5296 semapv:UnspecifiedMatching -OMIM:603158 USP8 skos:exactMatch hgnc.symbol:USP8 semapv:UnspecifiedMatching OMIM:603158 USP8 skos:exactMatch ncbigene:9101 semapv:UnspecifiedMatching -OMIM:603159 LRP3 skos:exactMatch ncbigene:4037 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch hgnc.symbol:USP8 semapv:UnspecifiedMatching OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:LRP3 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch ncbigene:4037 semapv:UnspecifiedMatching OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:ENTPD6 semapv:UnspecifiedMatching OMIM:603160 ENTPD6 skos:exactMatch ncbigene:955 semapv:UnspecifiedMatching OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:ENTPD3 semapv:UnspecifiedMatching @@ -15264,20 +15268,20 @@ OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:ENTPD5 semapv:UnspecifiedMatching OMIM:603162 ENTPD5 skos:exactMatch ncbigene:957 semapv:UnspecifiedMatching OMIM:603163 SCRG1 skos:exactMatch ncbigene:11341 semapv:UnspecifiedMatching OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:SCRG1 semapv:UnspecifiedMatching -OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:PEX3 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:MAP4K2 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch ncbigene:5871 semapv:UnspecifiedMatching OMIM:603167 BAD skos:exactMatch hgnc.symbol:BAD semapv:UnspecifiedMatching OMIM:603167 BAD skos:exactMatch ncbigene:572 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch UMLS:C1421350 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:ULK1 semapv:UnspecifiedMatching OMIM:603168 ULK1 skos:exactMatch ncbigene:8408 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:ULK1 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch UMLS:C1421350 semapv:UnspecifiedMatching OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:CTSZ semapv:UnspecifiedMatching OMIM:603169 CTSZ skos:exactMatch ncbigene:1522 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch ncbigene:7005 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:TEAD3 semapv:UnspecifiedMatching OMIM:603170 TEAD3 skos:exactMatch UMLS:C1420681 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:TEAD3 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch ncbigene:7005 semapv:UnspecifiedMatching OMIM:603171 NEDD8 skos:exactMatch UMLS:C1417663 semapv:UnspecifiedMatching OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:NEDD8 semapv:UnspecifiedMatching OMIM:603171 NEDD8 skos:exactMatch ncbigene:4738 semapv:UnspecifiedMatching @@ -15301,10 +15305,10 @@ OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:ILF3 semapv:UnspecifiedMatching OMIM:603182 ILF3 skos:exactMatch ncbigene:3609 semapv:UnspecifiedMatching OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:RTN2 semapv:UnspecifiedMatching OMIM:603183 RTN2 skos:exactMatch ncbigene:6253 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch ncbigene:1024 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch UMLS:C1413289 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:CDK8 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch ncbigene:1024 semapv:UnspecifiedMatching OMIM:603185 NASP skos:exactMatch ncbigene:4678 semapv:UnspecifiedMatching OMIM:603185 NASP skos:exactMatch hgnc.symbol:NASP semapv:UnspecifiedMatching OMIM:603186 DAXX skos:exactMatch hgnc.symbol:DAXX semapv:UnspecifiedMatching @@ -15346,8 +15350,8 @@ OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:MORC1 semapv:UnspecifiedMatching OMIM:603205 MORC1 skos:exactMatch ncbigene:27136 semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:VTI1B semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch ncbigene:10490 semapv:UnspecifiedMatching -OMIM:603208 KCNJ13 skos:exactMatch ncbigene:3769 semapv:UnspecifiedMatching OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:KCNJ13 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch ncbigene:3769 semapv:UnspecifiedMatching OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:CMAHP semapv:UnspecifiedMatching OMIM:603210 JRK skos:exactMatch UMLS:C1416531 semapv:UnspecifiedMatching OMIM:603210 JRK skos:exactMatch hgnc.symbol:JRK semapv:UnspecifiedMatching @@ -15376,32 +15380,32 @@ OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:SNHG1 semapv:UnspecifiedMa OMIM:603222 u22 host gene skos:exactMatch ncbigene:23642 semapv:UnspecifiedMatching OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:SNORD22 semapv:UnspecifiedMatching OMIM:603223 RNU22 skos:exactMatch ncbigene:9304 semapv:UnspecifiedMatching -OMIM:603224 RNU25 skos:exactMatch ncbigene:9303 semapv:UnspecifiedMatching OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:SNORD25 semapv:UnspecifiedMatching -OMIM:603225 RNU26 skos:exactMatch ncbigene:9302 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch ncbigene:9303 semapv:UnspecifiedMatching OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:SNORD26 semapv:UnspecifiedMatching -OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:SNORD27 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch ncbigene:9302 semapv:UnspecifiedMatching OMIM:603226 RNU27 skos:exactMatch ncbigene:9301 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:SNORD27 semapv:UnspecifiedMatching OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:SNORD28 semapv:UnspecifiedMatching OMIM:603227 RNU28 skos:exactMatch ncbigene:9300 semapv:UnspecifiedMatching OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:SNORD29 semapv:UnspecifiedMatching OMIM:603228 RNU29 skos:exactMatch ncbigene:9297 semapv:UnspecifiedMatching OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:SNORD30 semapv:UnspecifiedMatching OMIM:603229 RNU30 skos:exactMatch ncbigene:9299 semapv:UnspecifiedMatching -OMIM:603230 RNU31 skos:exactMatch ncbigene:9298 semapv:UnspecifiedMatching OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:SNORD31 semapv:UnspecifiedMatching -OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:ZNF200 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch ncbigene:9298 semapv:UnspecifiedMatching OMIM:603231 ZNF200 skos:exactMatch ncbigene:7752 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:ZNF200 semapv:UnspecifiedMatching OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:OR1F1 semapv:UnspecifiedMatching OMIM:603232 OR1F1 skos:exactMatch ncbigene:4992 semapv:UnspecifiedMatching OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:ABCC6 semapv:UnspecifiedMatching OMIM:603234 ABCC6 skos:exactMatch ncbigene:368 semapv:UnspecifiedMatching -OMIM:603235 SELENOW skos:exactMatch ncbigene:6415 semapv:UnspecifiedMatching OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:SELENOW semapv:UnspecifiedMatching -OMIM:603236 MVD skos:exactMatch ncbigene:4597 semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch ncbigene:6415 semapv:UnspecifiedMatching OMIM:603236 MVD skos:exactMatch hgnc.symbol:MVD semapv:UnspecifiedMatching -OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:EPB41L2 semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch ncbigene:4597 semapv:UnspecifiedMatching OMIM:603237 EPB41L2 skos:exactMatch ncbigene:2037 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:EPB41L2 semapv:UnspecifiedMatching OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:SNHG3 semapv:UnspecifiedMatching OMIM:603238 RNU17D skos:exactMatch ncbigene:8420 semapv:UnspecifiedMatching OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:SNORA73B semapv:UnspecifiedMatching @@ -15410,16 +15414,16 @@ OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:SLC22A18AS semapv:Unspecified OMIM:603240 SLC22A18AS skos:exactMatch ncbigene:5003 semapv:UnspecifiedMatching OMIM:603241 LSAMP skos:exactMatch ncbigene:4045 semapv:UnspecifiedMatching OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:LSAMP semapv:UnspecifiedMatching -OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:CLEC2B semapv:UnspecifiedMatching OMIM:603242 CLEC2B skos:exactMatch ncbigene:9976 semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:CLEC2B semapv:UnspecifiedMatching OMIM:603243 AMFR skos:exactMatch hgnc.symbol:AMFR semapv:UnspecifiedMatching OMIM:603243 AMFR skos:exactMatch ncbigene:267 semapv:UnspecifiedMatching OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:HS3ST1 semapv:UnspecifiedMatching OMIM:603244 HS3ST1 skos:exactMatch ncbigene:9957 semapv:UnspecifiedMatching OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:NKX2-8 semapv:UnspecifiedMatching OMIM:603245 NKX2-8 skos:exactMatch ncbigene:26257 semapv:UnspecifiedMatching -OMIM:603246 GTF3C1 skos:exactMatch ncbigene:2975 semapv:UnspecifiedMatching OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:GTF3C1 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch ncbigene:2975 semapv:UnspecifiedMatching OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:SLC27A2 semapv:UnspecifiedMatching OMIM:603247 SLC27A2 skos:exactMatch ncbigene:11001 semapv:UnspecifiedMatching OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:BMPR1B semapv:UnspecifiedMatching @@ -15428,28 +15432,28 @@ OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:NIPSNAP1 semapv:UnspecifiedMatc OMIM:603249 NIPSNAP1 skos:exactMatch ncbigene:8508 semapv:UnspecifiedMatching OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:FOXF2 semapv:UnspecifiedMatching OMIM:603250 FOXF2 skos:exactMatch ncbigene:2295 semapv:UnspecifiedMatching -OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:CDK9 semapv:UnspecifiedMatching OMIM:603251 CDK9 skos:exactMatch ncbigene:1025 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:CDK9 semapv:UnspecifiedMatching OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:FOXL1 semapv:UnspecifiedMatching OMIM:603252 FOXL1 skos:exactMatch ncbigene:2300 semapv:UnspecifiedMatching OMIM:603253 CST7 skos:exactMatch hgnc.symbol:CST7 semapv:UnspecifiedMatching OMIM:603253 CST7 skos:exactMatch ncbigene:8530 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:SMARCA4 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch UMLS:C1335843 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch ncbigene:6597 semapv:UnspecifiedMatching OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:NFX1 semapv:UnspecifiedMatching OMIM:603255 NFX1 skos:exactMatch ncbigene:4799 semapv:UnspecifiedMatching -OMIM:603256 LRRFIP1 skos:exactMatch ncbigene:9208 semapv:UnspecifiedMatching OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:LRRFIP1 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch ncbigene:9208 semapv:UnspecifiedMatching OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:HLTF semapv:UnspecifiedMatching OMIM:603257 SMARCA3 skos:exactMatch ncbigene:6596 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C1442489 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:IKBKB semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch ncbigene:3551 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C1442489 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching OMIM:603260 BARX1 skos:exactMatch ncbigene:56033 semapv:UnspecifiedMatching OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:BARX1 semapv:UnspecifiedMatching OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:PIP4K2B semapv:UnspecifiedMatching @@ -15471,19 +15475,19 @@ OMIM:603268 NDST2 skos:exactMatch ncbigene:8509 semapv:UnspecifiedMatching OMIM:603269 SRSF8 skos:exactMatch ncbigene:10929 semapv:UnspecifiedMatching OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:SRSF8 semapv:UnspecifiedMatching OMIM:603270 ATP5PB skos:exactMatch ncbigene:515 semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch UMLS:C1412661 semapv:UnspecifiedMatching OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:ATP5PB semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch UMLS:C1412661 semapv:UnspecifiedMatching OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:PTPN21 semapv:UnspecifiedMatching OMIM:603271 PTPN21 skos:exactMatch ncbigene:11099 semapv:UnspecifiedMatching -OMIM:603272 CNKSR1 skos:exactMatch ncbigene:10256 semapv:UnspecifiedMatching OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:CNKSR1 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch ncbigene:10256 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch ncbigene:8626 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch hgnc.symbol:TP63 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch ncbigene:8626 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1854442 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1422009 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching @@ -15522,52 +15526,52 @@ OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:BNIP3 semapv:UnspecifiedMatching OMIM:603293 BNIP3 skos:exactMatch ncbigene:664 semapv:UnspecifiedMatching OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:MCM3AP semapv:UnspecifiedMatching OMIM:603294 MCM3AP skos:exactMatch ncbigene:8888 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:SMAD9 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch ncbigene:4093 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:SMAD9 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch UMLS:C1416964 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:LAMTOR3 semapv:UnspecifiedMatching OMIM:603296 LAMTOR3 skos:exactMatch ncbigene:8649 semapv:UnspecifiedMatching OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:DYNC2H1 semapv:UnspecifiedMatching OMIM:603297 DYNC2H1 skos:exactMatch ncbigene:79659 semapv:UnspecifiedMatching -OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:PPT2 semapv:UnspecifiedMatching OMIM:603298 PPT2 skos:exactMatch ncbigene:9374 semapv:UnspecifiedMatching -OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:TNFAIP2 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:PPT2 semapv:UnspecifiedMatching OMIM:603300 TNFAIP2 skos:exactMatch ncbigene:7127 semapv:UnspecifiedMatching -OMIM:603301 KLF11 skos:exactMatch ncbigene:8462 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:TNFAIP2 semapv:UnspecifiedMatching OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:KLF11 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch ncbigene:8462 semapv:UnspecifiedMatching OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:ADCY9 semapv:UnspecifiedMatching OMIM:603302 ADCY9 skos:exactMatch ncbigene:115 semapv:UnspecifiedMatching OMIM:603303 TNKS skos:exactMatch hgnc.symbol:TNKS semapv:UnspecifiedMatching OMIM:603303 TNKS skos:exactMatch ncbigene:8658 semapv:UnspecifiedMatching OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:IRAK2 semapv:UnspecifiedMatching OMIM:603304 IRAK2 skos:exactMatch ncbigene:3656 semapv:UnspecifiedMatching -OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:KCNH1 semapv:UnspecifiedMatching OMIM:603305 KCNH1 skos:exactMatch ncbigene:3756 semapv:UnspecifiedMatching -OMIM:603306 TCF21 skos:exactMatch ncbigene:6943 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:KCNH1 semapv:UnspecifiedMatching OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:TCF21 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch ncbigene:6943 semapv:UnspecifiedMatching OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:BFSP1 semapv:UnspecifiedMatching OMIM:603307 BFSP1 skos:exactMatch ncbigene:631 semapv:UnspecifiedMatching OMIM:603308 CTSV skos:exactMatch hgnc.symbol:CTSV semapv:UnspecifiedMatching OMIM:603308 CTSV skos:exactMatch ncbigene:1515 semapv:UnspecifiedMatching OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:CDK13 semapv:UnspecifiedMatching OMIM:603309 CDK13 skos:exactMatch ncbigene:8621 semapv:UnspecifiedMatching -OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:PDE5A semapv:UnspecifiedMatching OMIM:603310 PDE5A skos:exactMatch ncbigene:8654 semapv:UnspecifiedMatching -OMIM:603311 CDC7 skos:exactMatch ncbigene:8317 semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:PDE5A semapv:UnspecifiedMatching OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:CDC7 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch ncbigene:8317 semapv:UnspecifiedMatching OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:BBOX1 semapv:UnspecifiedMatching OMIM:603312 BBOX1 skos:exactMatch ncbigene:8424 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch ncbigene:144245 semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch UMLS:C1538264 semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch UMLS:C4016828 semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:ALG10B semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch ncbigene:144245 semapv:UnspecifiedMatching OMIM:603314 SLC27A5 skos:exactMatch ncbigene:10998 semapv:UnspecifiedMatching OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:SLC27A5 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch ncbigene:23413 semapv:UnspecifiedMatching OMIM:603315 NCS1 skos:exactMatch UMLS:C1414814 semapv:UnspecifiedMatching OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:NCS1 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch ncbigene:23413 semapv:UnspecifiedMatching OMIM:603316 CMAS skos:exactMatch hgnc.symbol:CMAS semapv:UnspecifiedMatching OMIM:603316 CMAS skos:exactMatch ncbigene:55907 semapv:UnspecifiedMatching OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:PTPRQ semapv:UnspecifiedMatching @@ -15582,8 +15586,8 @@ OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:NDUFB6 semapv:UnspecifiedMatching OMIM:603322 NDUFB6 skos:exactMatch ncbigene:4712 semapv:UnspecifiedMatching OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:GJB3 semapv:UnspecifiedMatching OMIM:603324 GJB3 skos:exactMatch ncbigene:2707 semapv:UnspecifiedMatching -OMIM:603325 PPP1R9B skos:exactMatch ncbigene:84687 semapv:UnspecifiedMatching OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:PPP1R9B semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch ncbigene:84687 semapv:UnspecifiedMatching OMIM:603326 PPP1R3D skos:exactMatch ncbigene:5509 semapv:UnspecifiedMatching OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:PPP1R3D semapv:UnspecifiedMatching OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:RANBP3 semapv:UnspecifiedMatching @@ -15591,24 +15595,24 @@ OMIM:603327 RANBP3 skos:exactMatch ncbigene:8498 semapv:UnspecifiedMatching OMIM:603328 MSI1 skos:exactMatch UMLS:C1417335 semapv:UnspecifiedMatching OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:MSI1 semapv:UnspecifiedMatching OMIM:603328 MSI1 skos:exactMatch ncbigene:4440 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:DNAH9 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch ncbigene:1770 semapv:UnspecifiedMatching OMIM:603330 DNAH9 skos:exactMatch UMLS:C1414104 semapv:UnspecifiedMatching OMIM:603330 DNAH9 skos:exactMatch UMLS:C4749090 semapv:UnspecifiedMatching -OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:DYNC1I2 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:DNAH9 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch ncbigene:1770 semapv:UnspecifiedMatching OMIM:603331 DYNC1I2 skos:exactMatch ncbigene:1781 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:DYNC1I2 semapv:UnspecifiedMatching OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:DNAH1 semapv:UnspecifiedMatching OMIM:603332 DNAH1 skos:exactMatch ncbigene:25981 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:DNAH2 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch UMLS:C1414099 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:DNAH2 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch ncbigene:146754 semapv:UnspecifiedMatching OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:DNAH3 semapv:UnspecifiedMatching OMIM:603334 DNAH3 skos:exactMatch ncbigene:55567 semapv:UnspecifiedMatching OMIM:603335 DNAH5 skos:exactMatch ncbigene:1767 semapv:UnspecifiedMatching OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:DNAH5 semapv:UnspecifiedMatching -OMIM:603336 DNAH6 skos:exactMatch ncbigene:1768 semapv:UnspecifiedMatching OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:DNAH6 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch ncbigene:1768 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C1414103 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching @@ -15616,62 +15620,62 @@ OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:DNAH8 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch ncbigene:1769 semapv:UnspecifiedMatching OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:DNAH11 semapv:UnspecifiedMatching OMIM:603339 DNAH11 skos:exactMatch ncbigene:8701 semapv:UnspecifiedMatching -OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:DNAH12 semapv:UnspecifiedMatching OMIM:603340 DNAH12 skos:exactMatch ncbigene:201625 semapv:UnspecifiedMatching -OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:DNAH12 semapv:UnspecifiedMatching OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:DNAH14 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:RAE1 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch ncbigene:8480 semapv:UnspecifiedMatching OMIM:603344 USO1 skos:exactMatch hgnc.symbol:USO1 semapv:UnspecifiedMatching OMIM:603344 USO1 skos:exactMatch ncbigene:8615 semapv:UnspecifiedMatching OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:SLC4A4 semapv:UnspecifiedMatching OMIM:603345 SLC4A4 skos:exactMatch ncbigene:8671 semapv:UnspecifiedMatching -OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:NPAS1 semapv:UnspecifiedMatching OMIM:603346 NPAS1 skos:exactMatch ncbigene:4861 semapv:UnspecifiedMatching -OMIM:603347 NPAS2 skos:exactMatch ncbigene:4862 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:NPAS1 semapv:UnspecifiedMatching OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:NPAS2 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch ncbigene:4862 semapv:UnspecifiedMatching OMIM:603348 HIF1A skos:exactMatch UMLS:C1333897 semapv:UnspecifiedMatching OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:HIF1A semapv:UnspecifiedMatching OMIM:603348 HIF1A skos:exactMatch ncbigene:3091 semapv:UnspecifiedMatching OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:EPAS1 semapv:UnspecifiedMatching OMIM:603349 EPAS1 skos:exactMatch ncbigene:2034 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:OAS2 semapv:UnspecifiedMatching OMIM:603350 OAS2 skos:exactMatch ncbigene:4939 semapv:UnspecifiedMatching OMIM:603350 OAS2 skos:exactMatch UMLS:C1417913 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:OAS2 semapv:UnspecifiedMatching -OMIM:603351 OAS3 skos:exactMatch ncbigene:4940 semapv:UnspecifiedMatching OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:OAS3 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch ncbigene:4940 semapv:UnspecifiedMatching OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:BIRC5 semapv:UnspecifiedMatching OMIM:603352 BIRC5 skos:exactMatch ncbigene:332 semapv:UnspecifiedMatching OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:SLC4A7 semapv:UnspecifiedMatching OMIM:603353 SLC4A7 skos:exactMatch ncbigene:9497 semapv:UnspecifiedMatching -OMIM:603354 GBX1 skos:exactMatch ncbigene:2636 semapv:UnspecifiedMatching OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:GBX1 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:MBTPS1 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch ncbigene:2636 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching OMIM:603355 MBTPS1 skos:exactMatch ncbigene:8720 semapv:UnspecifiedMatching OMIM:603355 MBTPS1 skos:exactMatch UMLS:C1423502 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching -OMIM:603356 CD164 skos:exactMatch ncbigene:8763 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:MBTPS1 semapv:UnspecifiedMatching OMIM:603356 CD164 skos:exactMatch hgnc.symbol:CD164 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch ncbigene:8763 semapv:UnspecifiedMatching OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:SERPINB7 semapv:UnspecifiedMatching OMIM:603357 SERPINB7 skos:exactMatch ncbigene:8710 semapv:UnspecifiedMatching OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:NDUFA8 semapv:UnspecifiedMatching OMIM:603359 NDUFA8 skos:exactMatch ncbigene:4702 semapv:UnspecifiedMatching -OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:PEX16 semapv:UnspecifiedMatching OMIM:603360 PEX16 skos:exactMatch ncbigene:9409 semapv:UnspecifiedMatching -OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:TNFRSF6B semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:PEX16 semapv:UnspecifiedMatching OMIM:603361 TNFRSF6B skos:exactMatch ncbigene:8771 semapv:UnspecifiedMatching -OMIM:603362 SH3GL3 skos:exactMatch ncbigene:6457 semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:TNFRSF6B semapv:UnspecifiedMatching OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:SH3GL3 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch ncbigene:6457 semapv:UnspecifiedMatching OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:CGGBP1 semapv:UnspecifiedMatching OMIM:603363 CGGBP1 skos:exactMatch ncbigene:8545 semapv:UnspecifiedMatching OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:SRSF3 semapv:UnspecifiedMatching OMIM:603364 SRSF3 skos:exactMatch ncbigene:6428 semapv:UnspecifiedMatching OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:HIRIP3 semapv:UnspecifiedMatching OMIM:603365 HIRIP3 skos:exactMatch ncbigene:8479 semapv:UnspecifiedMatching -OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:TNFRSF25 semapv:UnspecifiedMatching OMIM:603366 TNFRSF25 skos:exactMatch ncbigene:8718 semapv:UnspecifiedMatching -OMIM:603368 CDK6 skos:exactMatch ncbigene:1021 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:TNFRSF25 semapv:UnspecifiedMatching OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:CDK6 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch ncbigene:1021 semapv:UnspecifiedMatching OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:CDKN2C semapv:UnspecifiedMatching OMIM:603369 CDKN2C skos:exactMatch ncbigene:1031 semapv:UnspecifiedMatching OMIM:603370 UGDH skos:exactMatch UMLS:C1442771 semapv:UnspecifiedMatching @@ -15680,50 +15684,50 @@ OMIM:603370 UGDH skos:exactMatch hgnc.symbol:UGDH semapv:UnspecifiedMatching OMIM:603370 UGDH skos:exactMatch ncbigene:7358 semapv:UnspecifiedMatching OMIM:603371 GLE1 skos:exactMatch ncbigene:2733 semapv:UnspecifiedMatching OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:GLE1 semapv:UnspecifiedMatching -OMIM:603372 TSHR skos:exactMatch ncbigene:7253 semapv:UnspecifiedMatching OMIM:603372 TSHR skos:exactMatch hgnc.symbol:TSHR semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch ncbigene:7253 semapv:UnspecifiedMatching OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:SMARCA5 semapv:UnspecifiedMatching OMIM:603375 SMARCA5 skos:exactMatch ncbigene:8467 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:SLC22A5 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch ncbigene:6584 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch UMLS:C1420140 semapv:UnspecifiedMatching -OMIM:603378 SAP30 skos:exactMatch ncbigene:8819 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:SAP30 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch ncbigene:8819 semapv:UnspecifiedMatching OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:IQGAP1 semapv:UnspecifiedMatching OMIM:603379 IQGAP1 skos:exactMatch ncbigene:8826 semapv:UnspecifiedMatching OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:LIN7A semapv:UnspecifiedMatching OMIM:603380 LIN7A skos:exactMatch ncbigene:8825 semapv:UnspecifiedMatching -OMIM:603381 FLNB skos:exactMatch hgnc.symbol:FLNB semapv:UnspecifiedMatching OMIM:603381 FLNB skos:exactMatch ncbigene:2317 semapv:UnspecifiedMatching -OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:MSH5 semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch hgnc.symbol:FLNB semapv:UnspecifiedMatching OMIM:603382 MSH5 skos:exactMatch ncbigene:4439 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:MSH5 semapv:UnspecifiedMatching OMIM:603383 glaucoma 1, open angle, f skos:exactMatch UMLS:C1863926 semapv:UnspecifiedMatching -OMIM:603384 SYNGAP1 skos:exactMatch ncbigene:8831 semapv:UnspecifiedMatching OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:SYNGAP1 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch ncbigene:8831 semapv:UnspecifiedMatching OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:NAE1 semapv:UnspecifiedMatching OMIM:603385 NAE1 skos:exactMatch ncbigene:8883 semapv:UnspecifiedMatching OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:PDE8B semapv:UnspecifiedMatching OMIM:603390 PDE8B skos:exactMatch ncbigene:8622 semapv:UnspecifiedMatching -OMIM:603392 BIK skos:exactMatch hgnc.symbol:BIK semapv:UnspecifiedMatching OMIM:603392 BIK skos:exactMatch ncbigene:638 semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch hgnc.symbol:BIK semapv:UnspecifiedMatching OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:SPAG1 semapv:UnspecifiedMatching OMIM:603395 SPAG1 skos:exactMatch ncbigene:6674 semapv:UnspecifiedMatching -OMIM:603397 ZNF282 skos:exactMatch ncbigene:8427 semapv:UnspecifiedMatching OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:ZNF282 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch ncbigene:8427 semapv:UnspecifiedMatching OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:CCN4 semapv:UnspecifiedMatching OMIM:603398 CCN4 skos:exactMatch ncbigene:8840 semapv:UnspecifiedMatching -OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:CCN5 semapv:UnspecifiedMatching OMIM:603399 CCN5 skos:exactMatch ncbigene:8839 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch UMLS:C1421509 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch UMLS:C5436955 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:CCN5 semapv:UnspecifiedMatching OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:CCN6 semapv:UnspecifiedMatching OMIM:603400 CCN6 skos:exactMatch ncbigene:8838 semapv:UnspecifiedMatching -OMIM:603401 AP3B1 skos:exactMatch ncbigene:8546 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch UMLS:C1421509 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch UMLS:C5436955 semapv:UnspecifiedMatching OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:AP3B1 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch ncbigene:8546 semapv:UnspecifiedMatching OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:ACOX3 semapv:UnspecifiedMatching OMIM:603402 ACOX3 skos:exactMatch ncbigene:8310 semapv:UnspecifiedMatching OMIM:603403 DHX15 skos:exactMatch UMLS:C1413955 semapv:UnspecifiedMatching @@ -15743,8 +15747,8 @@ OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:FZD1 semapv:UnspecifiedMatching OMIM:603408 FZD1 skos:exactMatch ncbigene:8321 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch ncbigene:8323 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:FZD6 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch UMLS:C1333587 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch UMLS:C1333587 semapv:UnspecifiedMatching OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:FZD7 semapv:UnspecifiedMatching OMIM:603410 FZD7 skos:exactMatch ncbigene:8324 semapv:UnspecifiedMatching OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:CDC42BPA semapv:UnspecifiedMatching @@ -15753,15 +15757,15 @@ OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:TIAL1 semapv:UnspecifiedMatching OMIM:603413 TIAL1 skos:exactMatch ncbigene:7073 semapv:UnspecifiedMatching OMIM:603414 TM7SF2 skos:exactMatch ncbigene:7108 semapv:UnspecifiedMatching OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:TM7SF2 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:SCN9A semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch ncbigene:6335 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C1419867 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch ncbigene:6335 semapv:UnspecifiedMatching OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:RPL21P1 semapv:UnspecifiedMatching OMIM:603417 RABIF skos:exactMatch hgnc.symbol:RABIF semapv:UnspecifiedMatching OMIM:603417 RABIF skos:exactMatch ncbigene:5877 semapv:UnspecifiedMatching @@ -15773,40 +15777,40 @@ OMIM:603420 CALU skos:exactMatch hgnc.symbol:CALU semapv:UnspecifiedMatching OMIM:603420 CALU skos:exactMatch ncbigene:813 semapv:UnspecifiedMatching OMIM:603421 TMEFF1 skos:exactMatch ncbigene:8577 semapv:UnspecifiedMatching OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:TMEFF1 semapv:UnspecifiedMatching -OMIM:603422 PDLIM4 skos:exactMatch ncbigene:8572 semapv:UnspecifiedMatching OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:PDLIM4 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch ncbigene:8572 semapv:UnspecifiedMatching OMIM:603423 PRDM1 skos:exactMatch UMLS:C1335253 semapv:UnspecifiedMatching OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:PRDM1 semapv:UnspecifiedMatching OMIM:603423 PRDM1 skos:exactMatch ncbigene:639 semapv:UnspecifiedMatching OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:PRKRA semapv:UnspecifiedMatching OMIM:603424 PRKRA skos:exactMatch ncbigene:8575 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch UMLS:C1412536 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:ARL1 semapv:UnspecifiedMatching OMIM:603425 ARL1 skos:exactMatch ncbigene:400 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:ARL1 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch UMLS:C1412536 semapv:UnspecifiedMatching OMIM:603426 PER2 skos:exactMatch hgnc.symbol:PER2 semapv:UnspecifiedMatching OMIM:603426 PER2 skos:exactMatch ncbigene:8864 semapv:UnspecifiedMatching -OMIM:603427 PER3 skos:exactMatch ncbigene:8863 semapv:UnspecifiedMatching OMIM:603427 PER3 skos:exactMatch hgnc.symbol:PER3 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch ncbigene:8863 semapv:UnspecifiedMatching OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:ZNF207 semapv:UnspecifiedMatching OMIM:603428 ZNF207 skos:exactMatch ncbigene:7756 semapv:UnspecifiedMatching OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:ABCF1 semapv:UnspecifiedMatching OMIM:603429 ABCF1 skos:exactMatch ncbigene:23 semapv:UnspecifiedMatching OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:ZNF202 semapv:UnspecifiedMatching OMIM:603430 ZNF202 skos:exactMatch ncbigene:7753 semapv:UnspecifiedMatching -OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:EIF4H semapv:UnspecifiedMatching OMIM:603431 EIF4H skos:exactMatch ncbigene:7458 semapv:UnspecifiedMatching -OMIM:603432 CLIP2 skos:exactMatch ncbigene:7461 semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:EIF4H semapv:UnspecifiedMatching OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:CLIP2 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch ncbigene:7461 semapv:UnspecifiedMatching OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:ZNF143 semapv:UnspecifiedMatching OMIM:603433 ZNF143 skos:exactMatch ncbigene:7702 semapv:UnspecifiedMatching OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:PEA15 semapv:UnspecifiedMatching OMIM:603434 PEA15 skos:exactMatch ncbigene:8682 semapv:UnspecifiedMatching OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:GPX5 semapv:UnspecifiedMatching OMIM:603435 GPX5 skos:exactMatch ncbigene:2880 semapv:UnspecifiedMatching -OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:ZNF205 semapv:UnspecifiedMatching OMIM:603436 ZNF205 skos:exactMatch ncbigene:7755 semapv:UnspecifiedMatching -OMIM:603437 YBX3 skos:exactMatch ncbigene:8531 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:ZNF205 semapv:UnspecifiedMatching OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:YBX3 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch ncbigene:8531 semapv:UnspecifiedMatching OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:CDK17 semapv:UnspecifiedMatching OMIM:603440 CDK17 skos:exactMatch ncbigene:5128 semapv:UnspecifiedMatching OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:CDKL1 semapv:UnspecifiedMatching @@ -15815,18 +15819,18 @@ OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:CDKL2 semapv:UnspecifiedMatching OMIM:603442 CDKL2 skos:exactMatch ncbigene:8999 semapv:UnspecifiedMatching OMIM:603443 VPS52 skos:exactMatch ncbigene:6293 semapv:UnspecifiedMatching OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:VPS52 semapv:UnspecifiedMatching -OMIM:603444 FUBP1 skos:exactMatch ncbigene:8880 semapv:UnspecifiedMatching OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:FUBP1 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch ncbigene:8880 semapv:UnspecifiedMatching OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:KHSRP semapv:UnspecifiedMatching OMIM:603445 KHSRP skos:exactMatch ncbigene:8570 semapv:UnspecifiedMatching OMIM:603447 HRK skos:exactMatch hgnc.symbol:HRK semapv:UnspecifiedMatching OMIM:603447 HRK skos:exactMatch ncbigene:8739 semapv:UnspecifiedMatching -OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:DAB1 semapv:UnspecifiedMatching OMIM:603448 DAB1 skos:exactMatch ncbigene:1600 semapv:UnspecifiedMatching -OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:RUVBL1 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:DAB1 semapv:UnspecifiedMatching OMIM:603449 RUVBL1 skos:exactMatch ncbigene:8607 semapv:UnspecifiedMatching -OMIM:603450 LDB2 skos:exactMatch ncbigene:9079 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:RUVBL1 semapv:UnspecifiedMatching OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:LDB2 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch ncbigene:9079 semapv:UnspecifiedMatching OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:LDB1 semapv:UnspecifiedMatching OMIM:603451 LDB1 skos:exactMatch ncbigene:8861 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch UMLS:C1335623 semapv:UnspecifiedMatching @@ -15836,75 +15840,75 @@ OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:RIPK1 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch ncbigene:8737 semapv:UnspecifiedMatching OMIM:603454 CRADD skos:exactMatch ncbigene:8738 semapv:UnspecifiedMatching OMIM:603454 CRADD skos:exactMatch hgnc.symbol:CRADD semapv:UnspecifiedMatching -OMIM:603455 RIPK2 skos:exactMatch ncbigene:8767 semapv:UnspecifiedMatching OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:RIPK2 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch ncbigene:8767 semapv:UnspecifiedMatching OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:DPH2 semapv:UnspecifiedMatching OMIM:603456 DPH2 skos:exactMatch ncbigene:1802 semapv:UnspecifiedMatching OMIM:603458 ELAVL3 skos:exactMatch UMLS:C1414373 semapv:UnspecifiedMatching OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:ELAVL3 semapv:UnspecifiedMatching OMIM:603458 ELAVL3 skos:exactMatch ncbigene:1995 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch UMLS:C1413285 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:CDK5R1 semapv:UnspecifiedMatching OMIM:603460 CDK5R1 skos:exactMatch ncbigene:8851 semapv:UnspecifiedMatching -OMIM:603461 CDC16 skos:exactMatch ncbigene:8881 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:CDK5R1 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch UMLS:C1413285 semapv:UnspecifiedMatching OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:CDC16 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch ncbigene:8881 semapv:UnspecifiedMatching OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:CDC23 semapv:UnspecifiedMatching OMIM:603462 CDC23 skos:exactMatch ncbigene:8697 semapv:UnspecifiedMatching OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:CDK10 semapv:UnspecifiedMatching OMIM:603464 CDK10 skos:exactMatch ncbigene:8558 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch ncbigene:8318 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:CDC45 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch UMLS:C1332724 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch UMLS:C4310738 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:CDC45 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch ncbigene:1994 semapv:UnspecifiedMatching OMIM:603466 ELAVL1 skos:exactMatch UMLS:C1414371 semapv:UnspecifiedMatching OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:ELAVL1 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch ncbigene:1994 semapv:UnspecifiedMatching OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:ASS1 semapv:UnspecifiedMatching OMIM:603470 ASS1 skos:exactMatch ncbigene:445 semapv:UnspecifiedMatching -OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching +OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch ncbigene:9113 semapv:UnspecifiedMatching OMIM:603473 LATS1 skos:exactMatch UMLS:C1367460 semapv:UnspecifiedMatching OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:LATS1 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch ncbigene:9113 semapv:UnspecifiedMatching -OMIM:603474 RPS19 skos:exactMatch ncbigene:6223 semapv:UnspecifiedMatching OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:RPS19 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch ncbigene:6223 semapv:UnspecifiedMatching OMIM:603475 CHRD skos:exactMatch hgnc.symbol:CHRD semapv:UnspecifiedMatching OMIM:603475 CHRD skos:exactMatch ncbigene:8646 semapv:UnspecifiedMatching OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:CREBL2 semapv:UnspecifiedMatching OMIM:603476 CREBL2 skos:exactMatch ncbigene:1389 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch UMLS:C1823197 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:BUD31 semapv:UnspecifiedMatching OMIM:603477 BUD31 skos:exactMatch ncbigene:8896 semapv:UnspecifiedMatching -OMIM:603478 USP1 skos:exactMatch ncbigene:7398 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:BUD31 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch UMLS:C1823197 semapv:UnspecifiedMatching OMIM:603478 USP1 skos:exactMatch hgnc.symbol:USP1 semapv:UnspecifiedMatching -OMIM:603479 ECM2 skos:exactMatch ncbigene:1842 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch ncbigene:7398 semapv:UnspecifiedMatching OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:ECM2 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch ncbigene:1842 semapv:UnspecifiedMatching OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:PSMD13 semapv:UnspecifiedMatching OMIM:603481 PSMD13 skos:exactMatch ncbigene:5719 semapv:UnspecifiedMatching OMIM:603482 BTRC skos:exactMatch hgnc.symbol:BTRC semapv:UnspecifiedMatching OMIM:603482 BTRC skos:exactMatch ncbigene:8945 semapv:UnspecifiedMatching -OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:EIF4EBP3 semapv:UnspecifiedMatching OMIM:603483 EIF4EBP3 skos:exactMatch ncbigene:8637 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:EIF4EBP3 semapv:UnspecifiedMatching OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:PRC1 semapv:UnspecifiedMatching OMIM:603484 PRC1 skos:exactMatch ncbigene:9055 semapv:UnspecifiedMatching -OMIM:603485 NFS1 skos:exactMatch ncbigene:9054 semapv:UnspecifiedMatching OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:NFS1 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch ncbigene:9054 semapv:UnspecifiedMatching OMIM:603486 USP4 skos:exactMatch hgnc.symbol:USP4 semapv:UnspecifiedMatching OMIM:603486 USP4 skos:exactMatch ncbigene:7375 semapv:UnspecifiedMatching -OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:MYH13 semapv:UnspecifiedMatching OMIM:603487 MYH13 skos:exactMatch ncbigene:8735 semapv:UnspecifiedMatching -OMIM:603488 AAMP skos:exactMatch hgnc.symbol:AAMP semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:MYH13 semapv:UnspecifiedMatching OMIM:603488 AAMP skos:exactMatch ncbigene:14 semapv:UnspecifiedMatching -OMIM:603489 CILP skos:exactMatch ncbigene:8483 semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch hgnc.symbol:AAMP semapv:UnspecifiedMatching OMIM:603489 CILP skos:exactMatch hgnc.symbol:CILP semapv:UnspecifiedMatching -OMIM:603490 WNT4 skos:exactMatch ncbigene:54361 semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch ncbigene:8483 semapv:UnspecifiedMatching OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:WNT4 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch ncbigene:54361 semapv:UnspecifiedMatching OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:IGSF3 semapv:UnspecifiedMatching OMIM:603491 IGSF3 skos:exactMatch ncbigene:3321 semapv:UnspecifiedMatching -OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:SLAMF1 semapv:UnspecifiedMatching OMIM:603492 SLAMF1 skos:exactMatch ncbigene:6504 semapv:UnspecifiedMatching -OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:KCNK5 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:SLAMF1 semapv:UnspecifiedMatching OMIM:603493 KCNK5 skos:exactMatch ncbigene:8645 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:KCNK5 semapv:UnspecifiedMatching OMIM:603494 URI1 skos:exactMatch hgnc.symbol:URI1 semapv:UnspecifiedMatching OMIM:603494 URI1 skos:exactMatch ncbigene:8725 semapv:UnspecifiedMatching OMIM:603495 AURKC skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching @@ -15913,16 +15917,16 @@ OMIM:603495 AURKC skos:exactMatch hgnc.symbol:AURKC semapv:UnspecifiedMatching OMIM:603495 AURKC skos:exactMatch ncbigene:6795 semapv:UnspecifiedMatching OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:DYRK2 semapv:UnspecifiedMatching OMIM:603496 DYRK2 skos:exactMatch ncbigene:8445 semapv:UnspecifiedMatching -OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:DYRK3 semapv:UnspecifiedMatching OMIM:603497 DYRK3 skos:exactMatch ncbigene:8444 semapv:UnspecifiedMatching -OMIM:603498 SMPD2 skos:exactMatch ncbigene:6610 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:DYRK3 semapv:UnspecifiedMatching OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:SMPD2 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch ncbigene:6610 semapv:UnspecifiedMatching OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:TNFRSF11A semapv:UnspecifiedMatching OMIM:603499 TNFRSF11A skos:exactMatch ncbigene:8792 semapv:UnspecifiedMatching OMIM:603500 TRADD skos:exactMatch hgnc.symbol:TRADD semapv:UnspecifiedMatching OMIM:603500 TRADD skos:exactMatch ncbigene:8717 semapv:UnspecifiedMatching -OMIM:603501 PARG skos:exactMatch hgnc.symbol:PARG semapv:UnspecifiedMatching OMIM:603501 PARG skos:exactMatch ncbigene:8505 semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch hgnc.symbol:PARG semapv:UnspecifiedMatching OMIM:603502 IFRD1 skos:exactMatch ncbigene:3475 semapv:UnspecifiedMatching OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:IFRD1 semapv:UnspecifiedMatching OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:DPM1 semapv:UnspecifiedMatching @@ -15931,61 +15935,61 @@ OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:CDC14A semapv:UnspecifiedMatching OMIM:603504 CDC14A skos:exactMatch ncbigene:8556 semapv:UnspecifiedMatching OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:CDC14B semapv:UnspecifiedMatching OMIM:603505 CDC14B skos:exactMatch ncbigene:8555 semapv:UnspecifiedMatching -OMIM:603506 LRP5 skos:exactMatch ncbigene:4041 semapv:UnspecifiedMatching OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:LRP5 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch ncbigene:4041 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch ncbigene:4040 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:LRP6 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch UMLS:C1416918 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch ncbigene:4040 semapv:UnspecifiedMatching -OMIM:603508 MYOM1 skos:exactMatch ncbigene:8736 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:MYOM1 semapv:UnspecifiedMatching -OMIM:603509 MYOM2 skos:exactMatch ncbigene:9172 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch ncbigene:8736 semapv:UnspecifiedMatching OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:MYOM2 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch ncbigene:9172 semapv:UnspecifiedMatching OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:RNGTT semapv:UnspecifiedMatching OMIM:603512 RNGTT skos:exactMatch ncbigene:8732 semapv:UnspecifiedMatching OMIM:603514 RNMT skos:exactMatch hgnc.symbol:RNMT semapv:UnspecifiedMatching OMIM:603514 RNMT skos:exactMatch ncbigene:8731 semapv:UnspecifiedMatching -OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:CSHL1 semapv:UnspecifiedMatching OMIM:603515 CSHL1 skos:exactMatch ncbigene:1444 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016846 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:CSHL1 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016845 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:BCL10 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016844 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch ncbigene:8915 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016843 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016842 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016846 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016841 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4015195 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:BCL10 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016842 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C3276200 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C1367449 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016841 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch ncbigene:8915 semapv:UnspecifiedMatching -OMIM:603518 TIA1 skos:exactMatch ncbigene:7072 semapv:UnspecifiedMatching OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:TIA1 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch ncbigene:7072 semapv:UnspecifiedMatching OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:SMNDC1 semapv:UnspecifiedMatching OMIM:603519 SMNDC1 skos:exactMatch ncbigene:10285 semapv:UnspecifiedMatching -OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:SNRPB2 semapv:UnspecifiedMatching OMIM:603520 SNRPB2 skos:exactMatch ncbigene:6629 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:SNRPB2 semapv:UnspecifiedMatching OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:SNRPA1 semapv:UnspecifiedMatching OMIM:603521 SNRPA1 skos:exactMatch ncbigene:6627 semapv:UnspecifiedMatching -OMIM:603522 SNRPC skos:exactMatch ncbigene:6631 semapv:UnspecifiedMatching OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:SNRPC semapv:UnspecifiedMatching -OMIM:603524 RCBTB2 skos:exactMatch ncbigene:1102 semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch ncbigene:6631 semapv:UnspecifiedMatching OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:RCBTB2 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch ncbigene:1102 semapv:UnspecifiedMatching OMIM:603525 NMI skos:exactMatch hgnc.symbol:NMI semapv:UnspecifiedMatching OMIM:603525 NMI skos:exactMatch ncbigene:9111 semapv:UnspecifiedMatching -OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:MTA1 semapv:UnspecifiedMatching OMIM:603526 MTA1 skos:exactMatch ncbigene:9112 semapv:UnspecifiedMatching -OMIM:603527 DPH1 skos:exactMatch ncbigene:1801 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:MTA1 semapv:UnspecifiedMatching OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:DPH1 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch ncbigene:1801 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch UMLS:C1412439 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:AP1S1 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch UMLS:C1412439 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch ncbigene:1174 semapv:UnspecifiedMatching -OMIM:603533 AP1G1 skos:exactMatch ncbigene:164 semapv:UnspecifiedMatching OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:AP1G1 semapv:UnspecifiedMatching -OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:AP1G2 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch ncbigene:164 semapv:UnspecifiedMatching OMIM:603534 AP1G2 skos:exactMatch ncbigene:8906 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:AP1G2 semapv:UnspecifiedMatching OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:AP1M1 semapv:UnspecifiedMatching OMIM:603535 AP1M1 skos:exactMatch ncbigene:8907 semapv:UnspecifiedMatching OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:FUBP3 semapv:UnspecifiedMatching @@ -15994,8 +15998,8 @@ OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:KCNQ4 semapv:UnspecifiedMatching OMIM:603537 KCNQ4 skos:exactMatch ncbigene:9132 semapv:UnspecifiedMatching OMIM:603538 KMO skos:exactMatch ncbigene:8564 semapv:UnspecifiedMatching OMIM:603538 KMO skos:exactMatch hgnc.symbol:KMO semapv:UnspecifiedMatching -OMIM:603539 CTSF skos:exactMatch hgnc.symbol:CTSF semapv:UnspecifiedMatching OMIM:603539 CTSF skos:exactMatch ncbigene:8722 semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch hgnc.symbol:CTSF semapv:UnspecifiedMatching OMIM:603540 GABBR1 skos:exactMatch UMLS:C1414904 semapv:UnspecifiedMatching OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:GABBR1 semapv:UnspecifiedMatching OMIM:603540 GABBR1 skos:exactMatch ncbigene:2550 semapv:UnspecifiedMatching @@ -16003,30 +16007,30 @@ OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:SNRPF semapv:UnspecifiedMatching OMIM:603541 SNRPF skos:exactMatch ncbigene:6636 semapv:UnspecifiedMatching OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:SNRPG semapv:UnspecifiedMatching OMIM:603542 SNRPG skos:exactMatch ncbigene:6637 semapv:UnspecifiedMatching -OMIM:603543 limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching OMIM:603543 limb-mammary syndrome skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603544 CCNK skos:exactMatch hgnc.symbol:CCNK semapv:UnspecifiedMatching +OMIM:603543 limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching OMIM:603544 CCNK skos:exactMatch ncbigene:8812 semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch hgnc.symbol:CCNK semapv:UnspecifiedMatching OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:MBD2 semapv:UnspecifiedMatching OMIM:603547 MBD2 skos:exactMatch ncbigene:8932 semapv:UnspecifiedMatching OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:CDS1 semapv:UnspecifiedMatching OMIM:603548 CDS1 skos:exactMatch ncbigene:1040 semapv:UnspecifiedMatching OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:CDS2 semapv:UnspecifiedMatching OMIM:603549 CDS2 skos:exactMatch ncbigene:8760 semapv:UnspecifiedMatching -OMIM:603550 EYA4 skos:exactMatch ncbigene:2070 semapv:UnspecifiedMatching OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:EYA4 semapv:UnspecifiedMatching -OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:HYAL2 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch ncbigene:2070 semapv:UnspecifiedMatching OMIM:603551 HYAL2 skos:exactMatch ncbigene:8692 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:HYAL2 semapv:UnspecifiedMatching OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch UMLS:C1863728 semapv:UnspecifiedMatching OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch UMLS:C1863727 semapv:UnspecifiedMatching OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2931884 semapv:UnspecifiedMatching OMIM:603554 omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching -OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching OMIM:603555 SUPT4H1 skos:exactMatch ncbigene:6827 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch UMLS:C1420523 semapv:UnspecifiedMatching OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:SUPT4H1 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch UMLS:C1420523 semapv:UnspecifiedMatching OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:MTMR2 semapv:UnspecifiedMatching OMIM:603557 MTMR2 skos:exactMatch ncbigene:8898 semapv:UnspecifiedMatching OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:MTMR3 semapv:UnspecifiedMatching @@ -16053,8 +16057,8 @@ OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:VNN1 semapv:UnspecifiedMatching OMIM:603570 VNN1 skos:exactMatch ncbigene:8876 semapv:UnspecifiedMatching OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:VNN2 semapv:UnspecifiedMatching OMIM:603571 VNN2 skos:exactMatch ncbigene:8875 semapv:UnspecifiedMatching -OMIM:603573 MBD3 skos:exactMatch ncbigene:53615 semapv:UnspecifiedMatching OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:MBD3 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch ncbigene:53615 semapv:UnspecifiedMatching OMIM:603574 MBD4 skos:exactMatch ncbigene:8930 semapv:UnspecifiedMatching OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:MBD4 semapv:UnspecifiedMatching OMIM:603575 NME5 skos:exactMatch UMLS:C1417744 semapv:UnspecifiedMatching @@ -16064,8 +16068,8 @@ OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:TRPM1 semapv:UnspecifiedMatching OMIM:603576 TRPM1 skos:exactMatch ncbigene:4308 semapv:UnspecifiedMatching OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:NOL4 semapv:UnspecifiedMatching OMIM:603577 NOL4 skos:exactMatch ncbigene:8715 semapv:UnspecifiedMatching -OMIM:603578 OVGP1 skos:exactMatch ncbigene:5016 semapv:UnspecifiedMatching OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:OVGP1 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch ncbigene:5016 semapv:UnspecifiedMatching OMIM:603579 RIOK3 skos:exactMatch ncbigene:8780 semapv:UnspecifiedMatching OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:RIOK3 semapv:UnspecifiedMatching OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:PCDH8 semapv:UnspecifiedMatching @@ -16074,38 +16078,38 @@ OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:PCDH9 semapv:UnspecifiedMatching OMIM:603581 PCDH9 skos:exactMatch ncbigene:5101 semapv:UnspecifiedMatching OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:TOP3B semapv:UnspecifiedMatching OMIM:603582 TOP3B skos:exactMatch ncbigene:8940 semapv:UnspecifiedMatching -OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:DLG2 semapv:UnspecifiedMatching OMIM:603583 DLG2 skos:exactMatch ncbigene:1740 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch UMLS:C1366909 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:DLG2 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch ncbigene:8567 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch hgnc.symbol:MADD semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch UMLS:C1366909 semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch hgnc.symbol:MADD semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch ncbigene:8567 semapv:UnspecifiedMatching OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch ncbigene:9215 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:LARGE1 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch UMLS:C1416798 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching -OMIM:603591 USP13 skos:exactMatch hgnc.symbol:USP13 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:LARGE1 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch ncbigene:9215 semapv:UnspecifiedMatching OMIM:603591 USP13 skos:exactMatch ncbigene:8975 semapv:UnspecifiedMatching -OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:SLC7A7 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch hgnc.symbol:USP13 semapv:UnspecifiedMatching OMIM:603593 SLC7A7 skos:exactMatch ncbigene:9056 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:SLC7A7 semapv:UnspecifiedMatching OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:TNFSF4 semapv:UnspecifiedMatching OMIM:603594 TNFSF4 skos:exactMatch ncbigene:7292 semapv:UnspecifiedMatching -OMIM:603597 SOCS1 skos:exactMatch ncbigene:8651 semapv:UnspecifiedMatching OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:SOCS1 semapv:UnspecifiedMatching -OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:TNFSF10 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch ncbigene:8651 semapv:UnspecifiedMatching OMIM:603598 TNFSF10 skos:exactMatch ncbigene:8743 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:TNFSF10 semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch ncbigene:8837 semapv:UnspecifiedMatching OMIM:603599 CFLAR skos:exactMatch UMLS:C1413357 semapv:UnspecifiedMatching OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:CFLAR semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch ncbigene:8837 semapv:UnspecifiedMatching OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:PIK3C2A semapv:UnspecifiedMatching OMIM:603601 PIK3C2A skos:exactMatch ncbigene:5286 semapv:UnspecifiedMatching OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:PLA2G4C semapv:UnspecifiedMatching OMIM:603602 PLA2G4C skos:exactMatch ncbigene:8605 semapv:UnspecifiedMatching -OMIM:603603 PLA2G10 skos:exactMatch ncbigene:8399 semapv:UnspecifiedMatching OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:PLA2G10 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch ncbigene:8399 semapv:UnspecifiedMatching OMIM:603604 PLA2G6 skos:exactMatch ncbigene:8398 semapv:UnspecifiedMatching OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:PLA2G6 semapv:UnspecifiedMatching OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:AIMP1 semapv:UnspecifiedMatching @@ -16116,8 +16120,8 @@ OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:RPS6KA5 semapv:UnspecifiedMatchi OMIM:603607 RPS6KA5 skos:exactMatch ncbigene:9252 semapv:UnspecifiedMatching OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:CBR3 semapv:UnspecifiedMatching OMIM:603608 CBR3 skos:exactMatch ncbigene:874 semapv:UnspecifiedMatching -OMIM:603609 FPGT skos:exactMatch hgnc.symbol:FPGT semapv:UnspecifiedMatching OMIM:603609 FPGT skos:exactMatch ncbigene:8790 semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch hgnc.symbol:FPGT semapv:UnspecifiedMatching OMIM:603610 UNC5C skos:exactMatch ncbigene:8633 semapv:UnspecifiedMatching OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:UNC5C semapv:UnspecifiedMatching OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:TNFRSF10A semapv:UnspecifiedMatching @@ -16136,8 +16140,8 @@ OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:SLC24A1 semapv:UnspecifiedMatchi OMIM:603617 SLC24A1 skos:exactMatch ncbigene:9187 semapv:UnspecifiedMatching OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:CDC20 semapv:UnspecifiedMatching OMIM:603618 CDC20 skos:exactMatch ncbigene:991 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch UMLS:C1428414 semapv:UnspecifiedMatching OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:FZR1 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch UMLS:C1428414 semapv:UnspecifiedMatching OMIM:603619 FZR1 skos:exactMatch ncbigene:51343 semapv:UnspecifiedMatching OMIM:603620 PSIP1 skos:exactMatch ncbigene:11168 semapv:UnspecifiedMatching OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:PSIP1 semapv:UnspecifiedMatching @@ -16148,10 +16152,10 @@ OMIM:603623 YARS1 skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:YARS1 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch ncbigene:8565 semapv:UnspecifiedMatching -OMIM:603624 RPS2 skos:exactMatch ncbigene:6187 semapv:UnspecifiedMatching OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:RPS2 semapv:UnspecifiedMatching -OMIM:603625 LY6H skos:exactMatch hgnc.symbol:LY6H semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch ncbigene:6187 semapv:UnspecifiedMatching OMIM:603625 LY6H skos:exactMatch ncbigene:4062 semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch hgnc.symbol:LY6H semapv:UnspecifiedMatching OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:PCDH1 semapv:UnspecifiedMatching OMIM:603626 PCDH1 skos:exactMatch ncbigene:5097 semapv:UnspecifiedMatching OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:PCDHGC3 semapv:UnspecifiedMatching @@ -16160,59 +16164,59 @@ OMIM:603628 MSC skos:exactMatch hgnc.symbol:MSC semapv:UnspecifiedMatching OMIM:603628 MSC skos:exactMatch ncbigene:9242 semapv:UnspecifiedMatching OMIM:603630 RPS5 skos:exactMatch ncbigene:6193 semapv:UnspecifiedMatching OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:RPS5 semapv:UnspecifiedMatching -OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:RPS9 semapv:UnspecifiedMatching OMIM:603631 RPS9 skos:exactMatch ncbigene:6203 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:RPS9 semapv:UnspecifiedMatching OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:RPS10 semapv:UnspecifiedMatching OMIM:603632 RPS10 skos:exactMatch ncbigene:6204 semapv:UnspecifiedMatching OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:RPS29 semapv:UnspecifiedMatching OMIM:603633 RPS29 skos:exactMatch ncbigene:6235 semapv:UnspecifiedMatching OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:RPL5 semapv:UnspecifiedMatching OMIM:603634 RPL5 skos:exactMatch ncbigene:6125 semapv:UnspecifiedMatching -OMIM:603635 SNORD21 skos:exactMatch ncbigene:6083 semapv:UnspecifiedMatching OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:SNORD21 semapv:UnspecifiedMatching -OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:RPL21 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch ncbigene:6083 semapv:UnspecifiedMatching OMIM:603636 RPL21 skos:exactMatch ncbigene:6144 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:RPL21 semapv:UnspecifiedMatching OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:RPL27A semapv:UnspecifiedMatching OMIM:603637 RPL27A skos:exactMatch ncbigene:6157 semapv:UnspecifiedMatching OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:RPL28 semapv:UnspecifiedMatching OMIM:603638 RPL28 skos:exactMatch ncbigene:6158 semapv:UnspecifiedMatching OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:ADAM17 semapv:UnspecifiedMatching OMIM:603639 ADAM17 skos:exactMatch ncbigene:6868 semapv:UnspecifiedMatching -OMIM:603640 ADAM19 skos:exactMatch ncbigene:8728 semapv:UnspecifiedMatching OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:ADAM19 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch UMLS:C1419872 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:SCO1 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch ncbigene:8728 semapv:UnspecifiedMatching OMIM:603644 SCO1 skos:exactMatch ncbigene:6341 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:SCO1 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch UMLS:C1419872 semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch UMLS:C1418468 semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch hgnc.symbol:GATB semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch ncbigene:5188 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch ncbigene:1355 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch hgnc.symbol:COX15 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching OMIM:603646 COX15 skos:exactMatch UMLS:C1413632 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch hgnc.symbol:COX15 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch ncbigene:1355 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch ncbigene:617 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:BCS1L semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C4016851 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C1412777 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C1412777 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C4016851 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:BCS1L semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch ncbigene:617 semapv:UnspecifiedMatching OMIM:603648 COX11 skos:exactMatch ncbigene:1353 semapv:UnspecifiedMatching OMIM:603648 COX11 skos:exactMatch hgnc.symbol:COX11 semapv:UnspecifiedMatching -OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:BBS5 semapv:UnspecifiedMatching OMIM:603650 BBS5 skos:exactMatch ncbigene:129880 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:BBS5 semapv:UnspecifiedMatching OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:TRPC4 semapv:UnspecifiedMatching OMIM:603651 TRPC4 skos:exactMatch ncbigene:7223 semapv:UnspecifiedMatching OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:TRPC6 semapv:UnspecifiedMatching OMIM:603652 TRPC6 skos:exactMatch ncbigene:7225 semapv:UnspecifiedMatching -OMIM:603654 SLC16A7 skos:exactMatch ncbigene:9194 semapv:UnspecifiedMatching OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:SLC16A7 semapv:UnspecifiedMatching -OMIM:603657 VAMP3 skos:exactMatch ncbigene:9341 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch ncbigene:9194 semapv:UnspecifiedMatching OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:VAMP3 semapv:UnspecifiedMatching -OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:RPS7 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch ncbigene:9341 semapv:UnspecifiedMatching OMIM:603658 RPS7 skos:exactMatch ncbigene:6201 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:RPS7 semapv:UnspecifiedMatching OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:GLP2R semapv:UnspecifiedMatching OMIM:603659 GLP2R skos:exactMatch ncbigene:9340 semapv:UnspecifiedMatching OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:RPS12 semapv:UnspecifiedMatching @@ -16221,38 +16225,38 @@ OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:RPL17 semapv:UnspecifiedMatching OMIM:603661 RPL17 skos:exactMatch ncbigene:6139 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch ncbigene:9349 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:RPL23 semapv:UnspecifiedMatching -OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching OMIM:603665 STC2 skos:exactMatch ncbigene:8614 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching OMIM:603666 STX16 skos:exactMatch hgnc.symbol:STX16 semapv:UnspecifiedMatching OMIM:603666 STX16 skos:exactMatch ncbigene:8675 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch UMLS:C1420153 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:SLC25A12 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch ncbigene:8604 semapv:UnspecifiedMatching -OMIM:603668 SCAF11 skos:exactMatch ncbigene:9169 semapv:UnspecifiedMatching OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:SCAF11 semapv:UnspecifiedMatching -OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:CBFA2T2 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch ncbigene:9169 semapv:UnspecifiedMatching OMIM:603672 CBFA2T2 skos:exactMatch ncbigene:9139 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:CBFA2T2 semapv:UnspecifiedMatching OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:PTCH2 semapv:UnspecifiedMatching OMIM:603673 PTCH2 skos:exactMatch ncbigene:8643 semapv:UnspecifiedMatching OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:RPS15A semapv:UnspecifiedMatching OMIM:603674 RPS15A skos:exactMatch ncbigene:6210 semapv:UnspecifiedMatching -OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:RPS16 semapv:UnspecifiedMatching -OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:UBE2N semapv:UnspecifiedMatching -OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:ATXN8OS semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching OMIM:603680 ATXN8OS skos:exactMatch ncbigene:6315 semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:ATXN8OS semapv:UnspecifiedMatching OMIM:603681 OTOF skos:exactMatch hgnc.symbol:OTOF semapv:UnspecifiedMatching OMIM:603681 OTOF skos:exactMatch ncbigene:9381 semapv:UnspecifiedMatching OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:RPS20 semapv:UnspecifiedMatching OMIM:603682 RPS20 skos:exactMatch ncbigene:6224 semapv:UnspecifiedMatching OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:RPS23 semapv:UnspecifiedMatching OMIM:603683 RPS23 skos:exactMatch ncbigene:6228 semapv:UnspecifiedMatching -OMIM:603684 LIPG skos:exactMatch ncbigene:9388 semapv:UnspecifiedMatching OMIM:603684 LIPG skos:exactMatch hgnc.symbol:LIPG semapv:UnspecifiedMatching -OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:RPS28 semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch ncbigene:9388 semapv:UnspecifiedMatching OMIM:603685 RPS28 skos:exactMatch ncbigene:6234 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:RPS28 semapv:UnspecifiedMatching OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:RPL9 semapv:UnspecifiedMatching OMIM:603686 RPL9 skos:exactMatch ncbigene:6133 semapv:UnspecifiedMatching OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:ALDH1A2 semapv:UnspecifiedMatching @@ -16261,15 +16265,15 @@ OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:SLC33A1 semapv:UnspecifiedMatchi OMIM:603690 SLC33A1 skos:exactMatch ncbigene:9197 semapv:UnspecifiedMatching OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:GALR2 semapv:UnspecifiedMatching OMIM:603691 GALR2 skos:exactMatch ncbigene:8811 semapv:UnspecifiedMatching -OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:GALR3 semapv:UnspecifiedMatching OMIM:603692 GALR3 skos:exactMatch ncbigene:8484 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:GALR3 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1424490 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C4015129 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:ZFPM2 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch ncbigene:23414 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1424490 semapv:UnspecifiedMatching OMIM:603694 iia 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching @@ -16281,10 +16285,10 @@ OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:GBF1 semapv:UnspecifiedMatching OMIM:603698 GBF1 skos:exactMatch ncbigene:8729 semapv:UnspecifiedMatching OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:WNT11 semapv:UnspecifiedMatching OMIM:603699 WNT11 skos:exactMatch ncbigene:7481 semapv:UnspecifiedMatching -OMIM:603700 ALOX5AP skos:exactMatch ncbigene:241 semapv:UnspecifiedMatching OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:ALOX5AP semapv:UnspecifiedMatching -OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:RPS26 semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch ncbigene:241 semapv:UnspecifiedMatching OMIM:603701 RPS26 skos:exactMatch ncbigene:6231 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:RPS26 semapv:UnspecifiedMatching OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:RPS27 semapv:UnspecifiedMatching OMIM:603702 RPS27 skos:exactMatch ncbigene:6232 semapv:UnspecifiedMatching OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:RPL6 semapv:UnspecifiedMatching @@ -16298,12 +16302,12 @@ OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:SEMA4F semapv:UnspecifiedMatching OMIM:603706 SEMA4F skos:exactMatch ncbigene:10505 semapv:UnspecifiedMatching OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:MOCS1 semapv:UnspecifiedMatching OMIM:603707 MOCS1 skos:exactMatch ncbigene:4337 semapv:UnspecifiedMatching -OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:MOCS2 semapv:UnspecifiedMatching OMIM:603708 MOCS2 skos:exactMatch ncbigene:4338 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch ncbigene:53616 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:MOCS2 semapv:UnspecifiedMatching OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:ADAM22 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch ncbigene:53616 semapv:UnspecifiedMatching OMIM:603709 ADAM22 skos:exactMatch UMLS:C1412192 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:ADAM23 semapv:UnspecifiedMatching OMIM:603710 ADAM23 skos:exactMatch ncbigene:8745 semapv:UnspecifiedMatching OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1413894 semapv:UnspecifiedMatching @@ -16320,20 +16324,20 @@ OMIM:603714 SIX3 skos:exactMatch ncbigene:6496 semapv:UnspecifiedMatching OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:GCM1 semapv:UnspecifiedMatching OMIM:603715 GCM1 skos:exactMatch ncbigene:8521 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:GCM2 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch ncbigene:9247 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch UMLS:C1415017 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching -OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:ATP6V0B semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch ncbigene:9247 semapv:UnspecifiedMatching OMIM:603717 ATP6V0B skos:exactMatch ncbigene:533 semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:ATP6V0B semapv:UnspecifiedMatching OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:CLDN1 semapv:UnspecifiedMatching OMIM:603718 CLDN1 skos:exactMatch ncbigene:9076 semapv:UnspecifiedMatching OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:BUB3 semapv:UnspecifiedMatching OMIM:603719 BUB3 skos:exactMatch ncbigene:9184 semapv:UnspecifiedMatching -OMIM:603721 UBE2L3 skos:exactMatch ncbigene:7332 semapv:UnspecifiedMatching OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:UBE2L3 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch ncbigene:8518 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch ncbigene:7332 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:ELP1 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch ncbigene:8518 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch UMLS:C1416379 semapv:UnspecifiedMatching OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:FGF17 semapv:UnspecifiedMatching @@ -16345,18 +16349,18 @@ OMIM:603727 QARS1 skos:exactMatch ncbigene:5859 semapv:UnspecifiedMatching OMIM:603728 NUMB skos:exactMatch UMLS:C1417890 semapv:UnspecifiedMatching OMIM:603728 NUMB skos:exactMatch hgnc.symbol:NUMB semapv:UnspecifiedMatching OMIM:603728 NUMB skos:exactMatch ncbigene:8650 semapv:UnspecifiedMatching -OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:SGPL1 semapv:UnspecifiedMatching OMIM:603729 SGPL1 skos:exactMatch ncbigene:8879 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:SGPL1 semapv:UnspecifiedMatching OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:SPHK1 semapv:UnspecifiedMatching OMIM:603730 SPHK1 skos:exactMatch ncbigene:8877 semapv:UnspecifiedMatching OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:CNOT8 semapv:UnspecifiedMatching OMIM:603731 CNOT8 skos:exactMatch ncbigene:9337 semapv:UnspecifiedMatching OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:CRY2 semapv:UnspecifiedMatching OMIM:603732 CRY2 skos:exactMatch ncbigene:1408 semapv:UnspecifiedMatching -OMIM:603733 SLC43A1 skos:exactMatch ncbigene:8501 semapv:UnspecifiedMatching OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:SLC43A1 semapv:UnspecifiedMatching -OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:IRF3 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch ncbigene:8501 semapv:UnspecifiedMatching OMIM:603734 IRF3 skos:exactMatch ncbigene:3661 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:IRF3 semapv:UnspecifiedMatching OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:AOC3 semapv:UnspecifiedMatching OMIM:603735 AOC3 skos:exactMatch ncbigene:8639 semapv:UnspecifiedMatching OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching @@ -16364,62 +16368,62 @@ OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch Orphanet:3047 semapv:Un OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:BTF3P12 semapv:UnspecifiedMatching OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:BTF3P13 semapv:UnspecifiedMatching OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching -OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:ALOX12B semapv:UnspecifiedMatching OMIM:603741 ALOX12B skos:exactMatch ncbigene:242 semapv:UnspecifiedMatching -OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:SLIT1 semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:ALOX12B semapv:UnspecifiedMatching OMIM:603742 SLIT1 skos:exactMatch ncbigene:6585 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:SLIT1 semapv:UnspecifiedMatching OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:APOL1 semapv:UnspecifiedMatching OMIM:603743 APOL1 skos:exactMatch ncbigene:8542 semapv:UnspecifiedMatching OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:SLIT3 semapv:UnspecifiedMatching OMIM:603745 SLIT3 skos:exactMatch ncbigene:6586 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch ncbigene:9353 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:SLIT2 semapv:UnspecifiedMatching OMIM:603746 SLIT2 skos:exactMatch UMLS:C1420244 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:SLIT2 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch ncbigene:9353 semapv:UnspecifiedMatching OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:TPD52L2 semapv:UnspecifiedMatching OMIM:603747 TPD52L2 skos:exactMatch ncbigene:7165 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch UMLS:C1421174 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:TRPM2 semapv:UnspecifiedMatching OMIM:603749 TRPM2 skos:exactMatch ncbigene:7226 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:TRPM2 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch UMLS:C1421174 semapv:UnspecifiedMatching OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:AQP8 semapv:UnspecifiedMatching OMIM:603750 AQP8 skos:exactMatch ncbigene:343 semapv:UnspecifiedMatching -OMIM:603751 S1PR4 skos:exactMatch ncbigene:8698 semapv:UnspecifiedMatching OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:S1PR4 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch ncbigene:8698 semapv:UnspecifiedMatching OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:SLC7A4 semapv:UnspecifiedMatching OMIM:603752 SLC7A4 skos:exactMatch ncbigene:6545 semapv:UnspecifiedMatching OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:UBE4A semapv:UnspecifiedMatching OMIM:603753 UBE4A skos:exactMatch ncbigene:9354 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch ncbigene:9371 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:KIF3B semapv:UnspecifiedMatching OMIM:603754 KIF3B skos:exactMatch UMLS:C1416635 semapv:UnspecifiedMatching OMIM:603754 KIF3B skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:KIF3B semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch ncbigene:9371 semapv:UnspecifiedMatching OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:ZFYVE9 semapv:UnspecifiedMatching OMIM:603755 ZFYVE9 skos:exactMatch ncbigene:9372 semapv:UnspecifiedMatching -OMIM:603756 ABCG2 skos:exactMatch ncbigene:9429 semapv:UnspecifiedMatching OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:ABCG2 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch ncbigene:9429 semapv:UnspecifiedMatching OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:CCL18 semapv:UnspecifiedMatching OMIM:603757 CCL18 skos:exactMatch ncbigene:6362 semapv:UnspecifiedMatching -OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:GSTZ1 semapv:UnspecifiedMatching OMIM:603758 GSTZ1 skos:exactMatch ncbigene:2954 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:GSTZ1 semapv:UnspecifiedMatching OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:LHX2 semapv:UnspecifiedMatching OMIM:603759 LHX2 skos:exactMatch ncbigene:9355 semapv:UnspecifiedMatching OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:HUS1 semapv:UnspecifiedMatching OMIM:603760 HUS1 skos:exactMatch ncbigene:3364 semapv:UnspecifiedMatching -OMIM:603761 RAD9A skos:exactMatch ncbigene:5883 semapv:UnspecifiedMatching OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:RAD9A semapv:UnspecifiedMatching -OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:PRPSAP2 semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch ncbigene:5883 semapv:UnspecifiedMatching OMIM:603762 PRPSAP2 skos:exactMatch ncbigene:5636 semapv:UnspecifiedMatching -OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:KIFC1 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:PRPSAP2 semapv:UnspecifiedMatching OMIM:603763 KIFC1 skos:exactMatch ncbigene:3833 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:KIFC1 semapv:UnspecifiedMatching OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:CDK5R2 semapv:UnspecifiedMatching OMIM:603764 CDK5R2 skos:exactMatch ncbigene:8941 semapv:UnspecifiedMatching OMIM:603765 STX10 skos:exactMatch hgnc.symbol:STX10 semapv:UnspecifiedMatching OMIM:603765 STX10 skos:exactMatch ncbigene:8677 semapv:UnspecifiedMatching -OMIM:603766 MTIF2 skos:exactMatch ncbigene:4528 semapv:UnspecifiedMatching OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:MTIF2 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch ncbigene:4528 semapv:UnspecifiedMatching OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:KLK4 semapv:UnspecifiedMatching OMIM:603767 KLK4 skos:exactMatch ncbigene:9622 semapv:UnspecifiedMatching -OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:PPP1R12B semapv:UnspecifiedMatching OMIM:603768 PPP1R12B skos:exactMatch ncbigene:4660 semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:PPP1R12B semapv:UnspecifiedMatching OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:TCL1B semapv:UnspecifiedMatching OMIM:603769 TCL1B skos:exactMatch ncbigene:9623 semapv:UnspecifiedMatching OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:PPM1B semapv:UnspecifiedMatching @@ -16428,19 +16432,19 @@ OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:PPP1R10 semapv:UnspecifiedMatchi OMIM:603771 PPP1R10 skos:exactMatch ncbigene:5514 semapv:UnspecifiedMatching OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:DYNC1I1 semapv:UnspecifiedMatching OMIM:603772 DYNC1I1 skos:exactMatch ncbigene:1780 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch UMLS:C1413636 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch hgnc.symbol:COX5A semapv:UnspecifiedMatching OMIM:603773 COX5A skos:exactMatch ncbigene:9377 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch hgnc.symbol:COX5A semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch UMLS:C1413636 semapv:UnspecifiedMatching OMIM:603774 COX7C skos:exactMatch hgnc.symbol:COX7C semapv:UnspecifiedMatching OMIM:603774 COX7C skos:exactMatch ncbigene:1350 semapv:UnspecifiedMatching -OMIM:603775 CCNE2 skos:exactMatch ncbigene:9134 semapv:UnspecifiedMatching OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:CCNE2 semapv:UnspecifiedMatching -OMIM:603777 CER1 skos:exactMatch ncbigene:9350 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch ncbigene:9134 semapv:UnspecifiedMatching OMIM:603777 CER1 skos:exactMatch hgnc.symbol:CER1 semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch UMLS:C1413305 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch ncbigene:9350 semapv:UnspecifiedMatching OMIM:603778 CDYL skos:exactMatch hgnc.symbol:CDYL semapv:UnspecifiedMatching OMIM:603778 CDYL skos:exactMatch ncbigene:9425 semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch UMLS:C1413305 semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch UMLS:C1420277 semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:SNCAIP semapv:UnspecifiedMatching @@ -16449,59 +16453,59 @@ OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:RECQL4 semapv:UnspecifiedMatching OMIM:603780 RECQL4 skos:exactMatch ncbigene:9401 semapv:UnspecifiedMatching OMIM:603781 RECQL5 skos:exactMatch ncbigene:9400 semapv:UnspecifiedMatching OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:RECQL5 semapv:UnspecifiedMatching -OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching OMIM:603782 CCL4L1 skos:exactMatch ncbigene:388372 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:PTTG1IP semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch ncbigene:754 semapv:UnspecifiedMatching OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:MPDZ semapv:UnspecifiedMatching OMIM:603785 MPDZ skos:exactMatch ncbigene:8777 semapv:UnspecifiedMatching OMIM:603786 stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching OMIM:603786 stargardt disease 4 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching -OMIM:603787 KCNF1 skos:exactMatch ncbigene:3754 semapv:UnspecifiedMatching OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:KCNF1 semapv:UnspecifiedMatching -OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:KCNG1 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch ncbigene:3754 semapv:UnspecifiedMatching OMIM:603788 KCNG1 skos:exactMatch ncbigene:3755 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:KCNG1 semapv:UnspecifiedMatching OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:SLC23A1 semapv:UnspecifiedMatching OMIM:603790 SLC23A1 skos:exactMatch ncbigene:9963 semapv:UnspecifiedMatching OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:SLC23A2 semapv:UnspecifiedMatching OMIM:603791 SLC23A2 skos:exactMatch ncbigene:9962 semapv:UnspecifiedMatching OMIM:603794 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch ncbigene:9516 semapv:UnspecifiedMatching OMIM:603795 LITAF skos:exactMatch hgnc.symbol:LITAF semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch UMLS:C1424587 semapv:UnspecifiedMatching OMIM:603795 LITAF skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching -OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:KCNE2 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch UMLS:C1424587 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch ncbigene:9516 semapv:UnspecifiedMatching OMIM:603796 KCNE2 skos:exactMatch ncbigene:9992 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:KCNE2 semapv:UnspecifiedMatching OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:CHST1 semapv:UnspecifiedMatching OMIM:603797 CHST1 skos:exactMatch ncbigene:8534 semapv:UnspecifiedMatching OMIM:603798 CHST2 skos:exactMatch UMLS:C1413415 semapv:UnspecifiedMatching OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:CHST2 semapv:UnspecifiedMatching OMIM:603798 CHST2 skos:exactMatch ncbigene:9435 semapv:UnspecifiedMatching -OMIM:603799 CHST3 skos:exactMatch ncbigene:9469 semapv:UnspecifiedMatching OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:CHST3 semapv:UnspecifiedMatching -OMIM:603800 MED21 skos:exactMatch hgnc.symbol:MED21 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch ncbigene:9469 semapv:UnspecifiedMatching OMIM:603800 MED21 skos:exactMatch ncbigene:9412 semapv:UnspecifiedMatching -OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:NMT2 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch hgnc.symbol:MED21 semapv:UnspecifiedMatching OMIM:603801 NMT2 skos:exactMatch ncbigene:9397 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:NMT2 semapv:UnspecifiedMatching OMIM:603803 DACH1 skos:exactMatch UMLS:C1413899 semapv:UnspecifiedMatching OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:DACH1 semapv:UnspecifiedMatching OMIM:603803 DACH1 skos:exactMatch ncbigene:1602 semapv:UnspecifiedMatching OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:NEURL1 semapv:UnspecifiedMatching OMIM:603804 NEURL1 skos:exactMatch ncbigene:9148 semapv:UnspecifiedMatching -OMIM:603805 TGM5 skos:exactMatch ncbigene:9333 semapv:UnspecifiedMatching OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:TGM5 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch ncbigene:9333 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch ncbigene:9969 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch hgnc.symbol:MED13 semapv:UnspecifiedMatching OMIM:603808 MED13 skos:exactMatch UMLS:C1427770 semapv:UnspecifiedMatching OMIM:603808 MED13 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch hgnc.symbol:MED13 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch ncbigene:9969 semapv:UnspecifiedMatching OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:THRAP3 semapv:UnspecifiedMatching OMIM:603809 THRAP3 skos:exactMatch ncbigene:9967 semapv:UnspecifiedMatching OMIM:603810 MED17 skos:exactMatch hgnc.symbol:MED17 semapv:UnspecifiedMatching OMIM:603810 MED17 skos:exactMatch ncbigene:9440 semapv:UnspecifiedMatching -OMIM:603811 BANF1 skos:exactMatch ncbigene:8815 semapv:UnspecifiedMatching OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:BANF1 semapv:UnspecifiedMatching -OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:DCAF5 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch ncbigene:8815 semapv:UnspecifiedMatching OMIM:603812 DCAF5 skos:exactMatch ncbigene:8816 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:DCAF5 semapv:UnspecifiedMatching OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:RBX1 semapv:UnspecifiedMatching OMIM:603814 RBX1 skos:exactMatch ncbigene:9978 semapv:UnspecifiedMatching OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:KIF25 semapv:UnspecifiedMatching @@ -16510,17 +16514,17 @@ OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:AXIN1 semapv:UnspecifiedMatching OMIM:603816 AXIN1 skos:exactMatch ncbigene:8312 semapv:UnspecifiedMatching OMIM:603817 DDEF2 skos:exactMatch ncbigene:8853 semapv:UnspecifiedMatching OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:ASAP2 semapv:UnspecifiedMatching -OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:NRG2 semapv:UnspecifiedMatching OMIM:603818 NRG2 skos:exactMatch ncbigene:9542 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:NRG2 semapv:UnspecifiedMatching OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:SRA1 semapv:UnspecifiedMatching OMIM:603819 SRA1 skos:exactMatch ncbigene:10011 semapv:UnspecifiedMatching OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:FFAR1 semapv:UnspecifiedMatching OMIM:603820 FFAR1 skos:exactMatch ncbigene:2864 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch UMLS:C1825294 semapv:UnspecifiedMatching OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:FFAR3 semapv:UnspecifiedMatching OMIM:603821 FFAR3 skos:exactMatch ncbigene:2865 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch UMLS:C1825294 semapv:UnspecifiedMatching -OMIM:603822 GPR42 skos:exactMatch ncbigene:2866 semapv:UnspecifiedMatching OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:GPR42 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch ncbigene:2866 semapv:UnspecifiedMatching OMIM:603823 FFAR2 skos:exactMatch UMLS:C1825293 semapv:UnspecifiedMatching OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:FFAR2 semapv:UnspecifiedMatching OMIM:603823 FFAR2 skos:exactMatch ncbigene:2867 semapv:UnspecifiedMatching @@ -16530,28 +16534,28 @@ OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:HIC1 semapv:UnspecifiedMatching OMIM:603825 HIC1 skos:exactMatch ncbigene:3090 semapv:UnspecifiedMatching OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:NR1H4 semapv:UnspecifiedMatching OMIM:603826 NR1H4 skos:exactMatch ncbigene:9971 semapv:UnspecifiedMatching -OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:BCL2L11 semapv:UnspecifiedMatching OMIM:603827 BCL2L11 skos:exactMatch ncbigene:10018 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:BCL2L11 semapv:UnspecifiedMatching OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:PDZK1 semapv:UnspecifiedMatching OMIM:603831 PDZK1 skos:exactMatch ncbigene:5174 semapv:UnspecifiedMatching OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:NDUFA3 semapv:UnspecifiedMatching OMIM:603832 NDUFA3 skos:exactMatch ncbigene:4696 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:NDUFA4 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch ncbigene:4697 semapv:UnspecifiedMatching OMIM:603833 COXFA4 skos:exactMatch UMLS:C1417624 semapv:UnspecifiedMatching OMIM:603833 COXFA4 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:NDUFA9 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:NDUFA4 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch ncbigene:4697 semapv:UnspecifiedMatching OMIM:603834 NDUFA9 skos:exactMatch ncbigene:4704 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:NDUFA9 semapv:UnspecifiedMatching OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:NDUFA10 semapv:UnspecifiedMatching OMIM:603835 NDUFA10 skos:exactMatch ncbigene:4705 semapv:UnspecifiedMatching OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:NDUFAB1 semapv:UnspecifiedMatching OMIM:603836 NDUFAB1 skos:exactMatch ncbigene:4706 semapv:UnspecifiedMatching OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:NDUFB1 semapv:UnspecifiedMatching OMIM:603837 NDUFB1 skos:exactMatch ncbigene:4707 semapv:UnspecifiedMatching -OMIM:603838 NDUFB2 skos:exactMatch ncbigene:4708 semapv:UnspecifiedMatching OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:NDUFB2 semapv:UnspecifiedMatching -OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:NDUFB3 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch ncbigene:4708 semapv:UnspecifiedMatching OMIM:603839 NDUFB3 skos:exactMatch ncbigene:4709 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:NDUFB3 semapv:UnspecifiedMatching OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:NDUFB4 semapv:UnspecifiedMatching OMIM:603840 NDUFB4 skos:exactMatch ncbigene:4710 semapv:UnspecifiedMatching OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:NDUFB5 semapv:UnspecifiedMatching @@ -16581,15 +16585,15 @@ OMIM:603850 DNM1L skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C1414119 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch ncbigene:8929 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751683 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:PHOX2B semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1418697 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859050 semapv:UnspecifiedMatching -OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:TSSC4 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751683 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:PHOX2B semapv:UnspecifiedMatching OMIM:603852 TSSC4 skos:exactMatch ncbigene:10078 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:TSSC4 semapv:UnspecifiedMatching OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:TSPAN32 semapv:UnspecifiedMatching OMIM:603853 TSPAN32 skos:exactMatch ncbigene:10077 semapv:UnspecifiedMatching OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:RANBP9 semapv:UnspecifiedMatching @@ -16597,23 +16601,23 @@ OMIM:603854 RANBP9 skos:exactMatch ncbigene:10048 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:MKRN3 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch ncbigene:7681 semapv:UnspecifiedMatching OMIM:603857 MKRN3AS skos:exactMatch ncbigene:10108 semapv:UnspecifiedMatching -OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:SLC25A13 semapv:UnspecifiedMatching OMIM:603859 SLC25A13 skos:exactMatch ncbigene:10165 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:SLC25A13 semapv:UnspecifiedMatching OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:SLC25A15 semapv:UnspecifiedMatching OMIM:603861 SLC25A15 skos:exactMatch ncbigene:10166 semapv:UnspecifiedMatching -OMIM:603862 CCNT2 skos:exactMatch ncbigene:905 semapv:UnspecifiedMatching OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:CCNT2 semapv:UnspecifiedMatching -OMIM:603863 RNF7 skos:exactMatch ncbigene:9616 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch ncbigene:905 semapv:UnspecifiedMatching OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:RNF7 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch ncbigene:9616 semapv:UnspecifiedMatching OMIM:603864 CCS skos:exactMatch hgnc.symbol:CCS semapv:UnspecifiedMatching OMIM:603864 CCS skos:exactMatch ncbigene:9973 semapv:UnspecifiedMatching OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:GFPT2 semapv:UnspecifiedMatching OMIM:603865 GFPT2 skos:exactMatch ncbigene:9945 semapv:UnspecifiedMatching -OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:PEX11A semapv:UnspecifiedMatching OMIM:603866 PEX11A skos:exactMatch ncbigene:8800 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch UMLS:C1418472 semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:PEX11A semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:PEX11B semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch UMLS:C1418472 semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch ncbigene:8799 semapv:UnspecifiedMatching OMIM:603868 RAB27A skos:exactMatch ncbigene:5873 semapv:UnspecifiedMatching OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:RAB27A semapv:UnspecifiedMatching @@ -16643,8 +16647,8 @@ OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:SLC16A5 semapv:UnspecifiedMatchi OMIM:603879 SLC16A5 skos:exactMatch ncbigene:9121 semapv:UnspecifiedMatching OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:SLC16A6 semapv:UnspecifiedMatching OMIM:603880 SLC16A6 skos:exactMatch ncbigene:9120 semapv:UnspecifiedMatching -OMIM:603881 NR1I3 skos:exactMatch ncbigene:9970 semapv:UnspecifiedMatching OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:NR1I3 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch ncbigene:9970 semapv:UnspecifiedMatching OMIM:603882 BAG2 skos:exactMatch ncbigene:9532 semapv:UnspecifiedMatching OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:BAG2 semapv:UnspecifiedMatching OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:BAG3 semapv:UnspecifiedMatching @@ -16657,38 +16661,38 @@ OMIM:603886 ARTN skos:exactMatch hgnc.symbol:ARTN semapv:UnspecifiedMatching OMIM:603886 ARTN skos:exactMatch ncbigene:9048 semapv:UnspecifiedMatching OMIM:603887 TIMELESS skos:exactMatch ncbigene:8914 semapv:UnspecifiedMatching OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:TIMELESS semapv:UnspecifiedMatching -OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:KCNS3 semapv:UnspecifiedMatching OMIM:603888 KCNS3 skos:exactMatch ncbigene:3790 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:KCNS3 semapv:UnspecifiedMatching OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:SIRPB1 semapv:UnspecifiedMatching OMIM:603889 SIRPB1 skos:exactMatch ncbigene:10326 semapv:UnspecifiedMatching OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:UBE2L6 semapv:UnspecifiedMatching OMIM:603890 UBE2L6 skos:exactMatch ncbigene:9246 semapv:UnspecifiedMatching OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:FGF19 semapv:UnspecifiedMatching OMIM:603891 FGF19 skos:exactMatch ncbigene:9965 semapv:UnspecifiedMatching -OMIM:603892 EFTUD2 skos:exactMatch ncbigene:9343 semapv:UnspecifiedMatching OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:EFTUD2 semapv:UnspecifiedMatching -OMIM:603893 TANK skos:exactMatch hgnc.symbol:TANK semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch ncbigene:9343 semapv:UnspecifiedMatching OMIM:603893 TANK skos:exactMatch ncbigene:10010 semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch hgnc.symbol:TANK semapv:UnspecifiedMatching OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:RGS6 semapv:UnspecifiedMatching OMIM:603894 RGS6 skos:exactMatch ncbigene:9628 semapv:UnspecifiedMatching OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:RGS11 semapv:UnspecifiedMatching OMIM:603895 RGS11 skos:exactMatch ncbigene:8786 semapv:UnspecifiedMatching -OMIM:603897 MATN4 skos:exactMatch ncbigene:8785 semapv:UnspecifiedMatching OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:MATN4 semapv:UnspecifiedMatching -OMIM:603898 TNFSF18 skos:exactMatch ncbigene:8995 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch ncbigene:8785 semapv:UnspecifiedMatching OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:TNFSF18 semapv:UnspecifiedMatching -OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:ZNF85 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch ncbigene:8995 semapv:UnspecifiedMatching OMIM:603899 ZNF85 skos:exactMatch ncbigene:7639 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:ZNF85 semapv:UnspecifiedMatching OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:ZNF174 semapv:UnspecifiedMatching OMIM:603900 ZNF174 skos:exactMatch ncbigene:7727 semapv:UnspecifiedMatching OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:ZPR1 semapv:UnspecifiedMatching OMIM:603901 ZPR1 skos:exactMatch ncbigene:8882 semapv:UnspecifiedMatching -OMIM:603904 ITM2B skos:exactMatch ncbigene:9445 semapv:UnspecifiedMatching OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:ITM2B semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch ncbigene:9445 semapv:UnspecifiedMatching OMIM:603905 TNFRSF18 skos:exactMatch ncbigene:8784 semapv:UnspecifiedMatching OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:TNFRSF18 semapv:UnspecifiedMatching -OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:CLCA1 semapv:UnspecifiedMatching OMIM:603906 CLCA1 skos:exactMatch ncbigene:1179 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:CLCA1 semapv:UnspecifiedMatching OMIM:603907 EIF2S1 skos:exactMatch UMLS:C1414334 semapv:UnspecifiedMatching OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:EIF2S1 semapv:UnspecifiedMatching OMIM:603907 EIF2S1 skos:exactMatch ncbigene:1965 semapv:UnspecifiedMatching @@ -16698,123 +16702,123 @@ OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:EIF3J semapv:UnspecifiedMatching OMIM:603910 EIF3J skos:exactMatch ncbigene:8669 semapv:UnspecifiedMatching OMIM:603911 EIF3I skos:exactMatch ncbigene:8668 semapv:UnspecifiedMatching OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:EIF3I semapv:UnspecifiedMatching -OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:EIF3H semapv:UnspecifiedMatching OMIM:603912 EIF3H skos:exactMatch ncbigene:8667 semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:EIF3H semapv:UnspecifiedMatching OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:EIF3G semapv:UnspecifiedMatching OMIM:603913 EIF3G skos:exactMatch ncbigene:8666 semapv:UnspecifiedMatching OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:EIF3F semapv:UnspecifiedMatching OMIM:603914 EIF3F skos:exactMatch ncbigene:8665 semapv:UnspecifiedMatching OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:EIF3D semapv:UnspecifiedMatching OMIM:603915 EIF3D skos:exactMatch ncbigene:8664 semapv:UnspecifiedMatching -OMIM:603916 EIF3C skos:exactMatch ncbigene:8663 semapv:UnspecifiedMatching OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:EIF3C semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch ncbigene:8663 semapv:UnspecifiedMatching OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:EIF3B semapv:UnspecifiedMatching OMIM:603917 EIF3B skos:exactMatch ncbigene:8662 semapv:UnspecifiedMatching -OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching OMIM:603919 STK10 skos:exactMatch ncbigene:6793 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:CRYZL1 semapv:UnspecifiedMatching OMIM:603920 CRYZL1 skos:exactMatch ncbigene:9946 semapv:UnspecifiedMatching OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:SUCLA2 semapv:UnspecifiedMatching OMIM:603921 SUCLA2 skos:exactMatch ncbigene:8803 semapv:UnspecifiedMatching -OMIM:603922 SUCLG2 skos:exactMatch ncbigene:8801 semapv:UnspecifiedMatching OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:SUCLG2 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch ncbigene:8801 semapv:UnspecifiedMatching OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:HABP2 semapv:UnspecifiedMatching OMIM:603924 HABP2 skos:exactMatch ncbigene:3026 semapv:UnspecifiedMatching -OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:SYNGR1 semapv:UnspecifiedMatching OMIM:603925 SYNGR1 skos:exactMatch ncbigene:9145 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:SYNGR1 semapv:UnspecifiedMatching OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:SYNGR2 semapv:UnspecifiedMatching OMIM:603926 SYNGR2 skos:exactMatch ncbigene:9144 semapv:UnspecifiedMatching -OMIM:603927 SYNGR3 skos:exactMatch ncbigene:9143 semapv:UnspecifiedMatching OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:SYNGR3 semapv:UnspecifiedMatching -OMIM:603928 EIF4B skos:exactMatch ncbigene:1975 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch ncbigene:9143 semapv:UnspecifiedMatching OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:EIF4B semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch ncbigene:1975 semapv:UnspecifiedMatching OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:EIF4G3 semapv:UnspecifiedMatching OMIM:603929 EIF4G3 skos:exactMatch ncbigene:8672 semapv:UnspecifiedMatching -OMIM:603930 GPHN skos:exactMatch hgnc.symbol:GPHN semapv:UnspecifiedMatching OMIM:603930 GPHN skos:exactMatch ncbigene:10243 semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch hgnc.symbol:GPHN semapv:UnspecifiedMatching OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:ATP6V0E1 semapv:UnspecifiedMatching OMIM:603931 ATP6V0E1 skos:exactMatch ncbigene:8992 semapv:UnspecifiedMatching OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:CARM1 semapv:UnspecifiedMatching OMIM:603934 CARM1 skos:exactMatch ncbigene:10498 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch ncbigene:10220 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:GDF11 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C1415032 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching -OMIM:603937 RP1 skos:exactMatch hgnc.symbol:RP1 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:GDF11 semapv:UnspecifiedMatching OMIM:603937 RP1 skos:exactMatch ncbigene:6101 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch hgnc.symbol:RP1 semapv:UnspecifiedMatching OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:KCNK6 semapv:UnspecifiedMatching OMIM:603939 KCNK6 skos:exactMatch ncbigene:9424 semapv:UnspecifiedMatching OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:KCNK7 semapv:UnspecifiedMatching OMIM:603940 KCNK7 skos:exactMatch ncbigene:10089 semapv:UnspecifiedMatching -OMIM:603941 SLC19A2 skos:exactMatch ncbigene:10560 semapv:UnspecifiedMatching OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:SLC19A2 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch ncbigene:10560 semapv:UnspecifiedMatching OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:GYG1 semapv:UnspecifiedMatching OMIM:603942 GYG1 skos:exactMatch ncbigene:2992 semapv:UnspecifiedMatching -OMIM:603943 CDO skos:exactMatch hgnc.symbol:CDO1 semapv:UnspecifiedMatching OMIM:603943 CDO skos:exactMatch ncbigene:1036 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch hgnc.symbol:CDO1 semapv:UnspecifiedMatching OMIM:603944 STX6 skos:exactMatch hgnc.symbol:STX6 semapv:UnspecifiedMatching OMIM:603944 STX6 skos:exactMatch ncbigene:10228 semapv:UnspecifiedMatching -OMIM:603945 EIF2B5 skos:exactMatch ncbigene:8893 semapv:UnspecifiedMatching OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:EIF2B5 semapv:UnspecifiedMatching -OMIM:603946 HELLS skos:exactMatch ncbigene:3070 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch ncbigene:8893 semapv:UnspecifiedMatching OMIM:603946 HELLS skos:exactMatch hgnc.symbol:HELLS semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch ncbigene:3070 semapv:UnspecifiedMatching OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:MTA2 semapv:UnspecifiedMatching OMIM:603947 MTA2 skos:exactMatch ncbigene:9219 semapv:UnspecifiedMatching -OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:NUP153 semapv:UnspecifiedMatching OMIM:603948 NUP153 skos:exactMatch ncbigene:9972 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:NUP153 semapv:UnspecifiedMatching OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:RAB29 semapv:UnspecifiedMatching OMIM:603949 RAB7L1 skos:exactMatch ncbigene:8934 semapv:UnspecifiedMatching -OMIM:603950 NDST3 skos:exactMatch ncbigene:9348 semapv:UnspecifiedMatching OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:NDST3 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:KCNMB1 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch ncbigene:9348 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch ncbigene:3779 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1416603 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1837739 semapv:UnspecifiedMatching -OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:DRG1 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:KCNMB1 semapv:UnspecifiedMatching OMIM:603952 DRG1 skos:exactMatch ncbigene:4733 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:DRG1 semapv:UnspecifiedMatching OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:KCNJ14 semapv:UnspecifiedMatching OMIM:603953 KCNJ14 skos:exactMatch ncbigene:3770 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch UMLS:C1421868 semapv:UnspecifiedMatching OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:ZW10 semapv:UnspecifiedMatching OMIM:603954 ZW10 skos:exactMatch ncbigene:9183 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch UMLS:C1421868 semapv:UnspecifiedMatching OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:FMO2 semapv:UnspecifiedMatching OMIM:603955 FMO2 skos:exactMatch ncbigene:2327 semapv:UnspecifiedMatching -OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:FMO5 semapv:UnspecifiedMatching OMIM:603957 FMO5 skos:exactMatch ncbigene:2330 semapv:UnspecifiedMatching -OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:RFX4 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:FMO5 semapv:UnspecifiedMatching OMIM:603958 RFX4 skos:exactMatch ncbigene:5992 semapv:UnspecifiedMatching -OMIM:603959 CLDN16 skos:exactMatch ncbigene:10686 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:RFX4 semapv:UnspecifiedMatching OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:CLDN16 semapv:UnspecifiedMatching -OMIM:603960 CCIN skos:exactMatch ncbigene:881 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch ncbigene:10686 semapv:UnspecifiedMatching OMIM:603960 CCIN skos:exactMatch hgnc.symbol:CCIN semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch ncbigene:881 semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch UMLS:C1419942 semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch UMLS:C4016867 semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:SEMA3A semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch ncbigene:10371 semapv:UnspecifiedMatching OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:RASGRP1 semapv:UnspecifiedMatching OMIM:603962 RASGRP1 skos:exactMatch ncbigene:10125 semapv:UnspecifiedMatching -OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching OMIM:603963 ITGA9 skos:exactMatch ncbigene:3680 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:AKR1C3 semapv:UnspecifiedMatching OMIM:603966 AKR1C3 skos:exactMatch ncbigene:8644 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch ncbigene:6329 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:SCN4A semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C4016869 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C4016868 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C3280112 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C2931826 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C4016869 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C1868433 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C1858891 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C1419862 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C0752355 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C0221055 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching OMIM:603968 POLH skos:exactMatch hgnc.symbol:POLH semapv:UnspecifiedMatching OMIM:603968 POLH skos:exactMatch ncbigene:5429 semapv:UnspecifiedMatching -OMIM:603969 TNFSF13B skos:exactMatch ncbigene:10673 semapv:UnspecifiedMatching OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:TNFSF13B semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch ncbigene:10673 semapv:UnspecifiedMatching OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:PNMA2 semapv:UnspecifiedMatching OMIM:603970 PNMA2 skos:exactMatch ncbigene:10687 semapv:UnspecifiedMatching OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:ZNF91 semapv:UnspecifiedMatching @@ -16823,22 +16827,22 @@ OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:ZNF43 semapv:UnspecifiedMatching OMIM:603972 ZNF43 skos:exactMatch ncbigene:7594 semapv:UnspecifiedMatching OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:ZNF90 semapv:UnspecifiedMatching OMIM:603973 ZNF90 skos:exactMatch ncbigene:7643 semapv:UnspecifiedMatching -OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:ZNF92 semapv:UnspecifiedMatching OMIM:603974 ZNF92 skos:exactMatch ncbigene:168374 semapv:UnspecifiedMatching -OMIM:603975 ZNF93 skos:exactMatch ncbigene:81931 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:ZNF92 semapv:UnspecifiedMatching OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:ZNF93 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch ncbigene:81931 semapv:UnspecifiedMatching OMIM:603976 zinc finger protein 94 skos:exactMatch UMLS:C1858876 semapv:UnspecifiedMatching OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:ZNF208 semapv:UnspecifiedMatching OMIM:603977 ZNF208 skos:exactMatch ncbigene:7757 semapv:UnspecifiedMatching OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:ZSCAN12 semapv:UnspecifiedMatching OMIM:603978 ZSCAN12 skos:exactMatch ncbigene:9753 semapv:UnspecifiedMatching OMIM:603979 zinc finger protein 97 skos:exactMatch UMLS:C1421855 semapv:UnspecifiedMatching -OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:ZNF98 semapv:UnspecifiedMatching OMIM:603980 ZNF98 skos:exactMatch ncbigene:148198 semapv:UnspecifiedMatching -OMIM:603981 ZNF99 skos:exactMatch ncbigene:7652 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:ZNF98 semapv:UnspecifiedMatching OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:ZNF99 semapv:UnspecifiedMatching -OMIM:603982 ZNF100 skos:exactMatch ncbigene:163227 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch ncbigene:7652 semapv:UnspecifiedMatching OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:ZNF100 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch ncbigene:163227 semapv:UnspecifiedMatching OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:ZNF101 semapv:UnspecifiedMatching OMIM:603983 ZNF101 skos:exactMatch ncbigene:94039 semapv:UnspecifiedMatching OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:ZNF737 semapv:UnspecifiedMatching @@ -16859,86 +16863,86 @@ OMIM:603996 ZNF114 skos:exactMatch ncbigene:163071 semapv:UnspecifiedMatching OMIM:603997 zinc finger protein 118 skos:exactMatch UMLS:C1858865 semapv:UnspecifiedMatching OMIM:603998 zinc finger protein 119 skos:exactMatch UMLS:C1858864 semapv:UnspecifiedMatching OMIM:604000 zinc finger protein 122 skos:exactMatch UMLS:C1858862 semapv:UnspecifiedMatching -OMIM:604001 AKAP9 skos:exactMatch ncbigene:10142 semapv:UnspecifiedMatching OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:AKAP9 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch ncbigene:10142 semapv:UnspecifiedMatching OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:ROCK2 semapv:UnspecifiedMatching OMIM:604002 ROCK2 skos:exactMatch ncbigene:9475 semapv:UnspecifiedMatching -OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:CLCA2 semapv:UnspecifiedMatching OMIM:604003 CLCA2 skos:exactMatch ncbigene:9635 semapv:UnspecifiedMatching -OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:PTPRZ2 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:CLCA2 semapv:UnspecifiedMatching OMIM:604008 PTPRZ2 skos:exactMatch ncbigene:5804 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:PTPRZ2 semapv:UnspecifiedMatching OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:BAIAP3 semapv:UnspecifiedMatching OMIM:604009 BAIAP3 skos:exactMatch ncbigene:8938 semapv:UnspecifiedMatching -OMIM:604010 PNMA1 skos:exactMatch ncbigene:9240 semapv:UnspecifiedMatching OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:PNMA1 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch ncbigene:9240 semapv:UnspecifiedMatching OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:UNC119 semapv:UnspecifiedMatching OMIM:604011 UNC119 skos:exactMatch ncbigene:9094 semapv:UnspecifiedMatching OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:SNORD20 semapv:UnspecifiedMatching OMIM:604012 RNU20 skos:exactMatch ncbigene:6082 semapv:UnspecifiedMatching -OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:B4GALT2 semapv:UnspecifiedMatching OMIM:604013 B4GALT2 skos:exactMatch ncbigene:8704 semapv:UnspecifiedMatching -OMIM:604014 B4GALT3 skos:exactMatch ncbigene:8703 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:B4GALT2 semapv:UnspecifiedMatching OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:B4GALT3 semapv:UnspecifiedMatching -OMIM:604015 B4GALT4 skos:exactMatch ncbigene:8702 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch ncbigene:8703 semapv:UnspecifiedMatching OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:B4GALT4 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch ncbigene:8702 semapv:UnspecifiedMatching OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:B4GALT5 semapv:UnspecifiedMatching OMIM:604016 B4GALT5 skos:exactMatch ncbigene:9334 semapv:UnspecifiedMatching -OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:B4GALT6 semapv:UnspecifiedMatching OMIM:604017 B4GALT6 skos:exactMatch ncbigene:9331 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:B4GALT6 semapv:UnspecifiedMatching OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:NUMBL semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch UMLS:C1417891 semapv:UnspecifiedMatching OMIM:604018 NUMBL skos:exactMatch ncbigene:9253 semapv:UnspecifiedMatching -OMIM:604019 AGFG2 skos:exactMatch ncbigene:3268 semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch UMLS:C1417891 semapv:UnspecifiedMatching OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:AGFG2 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch ncbigene:3268 semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch UMLS:C1412829 semapv:UnspecifiedMatching OMIM:604020 BSN skos:exactMatch hgnc.symbol:BSN semapv:UnspecifiedMatching OMIM:604020 BSN skos:exactMatch ncbigene:8927 semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch UMLS:C1412829 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:SLC5A6 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch UMLS:C1420205 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:SLC5A6 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch ncbigene:8884 semapv:UnspecifiedMatching -OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:AXIN2 semapv:UnspecifiedMatching OMIM:604025 AXIN2 skos:exactMatch ncbigene:8313 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:AXIN2 semapv:UnspecifiedMatching OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:GOSR1 semapv:UnspecifiedMatching OMIM:604026 GOSR1 skos:exactMatch ncbigene:9527 semapv:UnspecifiedMatching -OMIM:604027 GOSR2 skos:exactMatch ncbigene:9570 semapv:UnspecifiedMatching OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:GOSR2 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch ncbigene:9570 semapv:UnspecifiedMatching OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:SEC22C semapv:UnspecifiedMatching OMIM:604028 SEC22C skos:exactMatch ncbigene:9117 semapv:UnspecifiedMatching -OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:SEC22B semapv:UnspecifiedMatching OMIM:604029 SEC22B skos:exactMatch ncbigene:9554 semapv:UnspecifiedMatching -OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:PSMB7 semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:SEC22B semapv:UnspecifiedMatching OMIM:604030 PSMB7 skos:exactMatch ncbigene:5695 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:PSMB7 semapv:UnspecifiedMatching OMIM:604031 SCD skos:exactMatch hgnc.symbol:SCD semapv:UnspecifiedMatching OMIM:604031 SCD skos:exactMatch ncbigene:6319 semapv:UnspecifiedMatching -OMIM:604032 EIF2AK3 skos:exactMatch ncbigene:9451 semapv:UnspecifiedMatching OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:EIF2AK3 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch ncbigene:9451 semapv:UnspecifiedMatching OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:ERN1 semapv:UnspecifiedMatching OMIM:604033 ERN1 skos:exactMatch ncbigene:2081 semapv:UnspecifiedMatching OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:ERN2 semapv:UnspecifiedMatching OMIM:604034 ERN2 skos:exactMatch ncbigene:10595 semapv:UnspecifiedMatching -OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:CYLC2 semapv:UnspecifiedMatching OMIM:604035 CYLC2 skos:exactMatch ncbigene:1539 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:CYLC2 semapv:UnspecifiedMatching OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:CCNA1 semapv:UnspecifiedMatching OMIM:604036 CCNA1 skos:exactMatch ncbigene:8900 semapv:UnspecifiedMatching -OMIM:604037 RAB5C skos:exactMatch ncbigene:5878 semapv:UnspecifiedMatching OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:RAB5C semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch ncbigene:5878 semapv:UnspecifiedMatching OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:HYAL3 semapv:UnspecifiedMatching OMIM:604038 HYAL3 skos:exactMatch ncbigene:8372 semapv:UnspecifiedMatching OMIM:604039 OGA skos:exactMatch hgnc.symbol:OGA semapv:UnspecifiedMatching OMIM:604039 OGA skos:exactMatch ncbigene:10724 semapv:UnspecifiedMatching -OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:RAD50 semapv:UnspecifiedMatching OMIM:604040 RAD50 skos:exactMatch ncbigene:10111 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:RAD50 semapv:UnspecifiedMatching OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:MPDU1 semapv:UnspecifiedMatching OMIM:604041 MPDU1 skos:exactMatch ncbigene:9526 semapv:UnspecifiedMatching -OMIM:604042 ITGA10 skos:exactMatch ncbigene:8515 semapv:UnspecifiedMatching OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:ITGA10 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch ncbigene:8515 semapv:UnspecifiedMatching OMIM:604043 NEK2 skos:exactMatch ncbigene:4751 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:NEK2 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching OMIM:604043 NEK2 skos:exactMatch UMLS:C1417672 semapv:UnspecifiedMatching -OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:NEK3 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:NEK2 semapv:UnspecifiedMatching OMIM:604044 NEK3 skos:exactMatch ncbigene:4752 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:NEK3 semapv:UnspecifiedMatching OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:PRMT5 semapv:UnspecifiedMatching OMIM:604045 PRMT5 skos:exactMatch ncbigene:10419 semapv:UnspecifiedMatching OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:OXSR1 semapv:UnspecifiedMatching @@ -16947,37 +16951,37 @@ OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:SLC22A13 semapv:UnspecifiedMatc OMIM:604047 SLC22A13 skos:exactMatch ncbigene:9390 semapv:UnspecifiedMatching OMIM:604048 SLC22A14 skos:exactMatch ncbigene:9389 semapv:UnspecifiedMatching OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:SLC22A14 semapv:UnspecifiedMatching -OMIM:604049 XYLB skos:exactMatch hgnc.symbol:XYLB semapv:UnspecifiedMatching OMIM:604049 XYLB skos:exactMatch ncbigene:9942 semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch hgnc.symbol:XYLB semapv:UnspecifiedMatching OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:DLEC1 semapv:UnspecifiedMatching OMIM:604050 DLEC1 skos:exactMatch ncbigene:9940 semapv:UnspecifiedMatching OMIM:604051 EXOG skos:exactMatch hgnc.symbol:EXOG semapv:UnspecifiedMatching OMIM:604051 EXOG skos:exactMatch ncbigene:9941 semapv:UnspecifiedMatching OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:TNFSF15 semapv:UnspecifiedMatching OMIM:604052 TNFSF15 skos:exactMatch ncbigene:9966 semapv:UnspecifiedMatching -OMIM:604053 BPNT1 skos:exactMatch ncbigene:10380 semapv:UnspecifiedMatching OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:BPNT1 semapv:UnspecifiedMatching -OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:ACAA1 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch ncbigene:10380 semapv:UnspecifiedMatching OMIM:604054 ACAA1 skos:exactMatch ncbigene:30 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:ACAA1 semapv:UnspecifiedMatching OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:IDI1 semapv:UnspecifiedMatching OMIM:604055 IDI1 skos:exactMatch ncbigene:3422 semapv:UnspecifiedMatching OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:HS3ST2 semapv:UnspecifiedMatching OMIM:604056 HS3ST2 skos:exactMatch ncbigene:9956 semapv:UnspecifiedMatching OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:HS3ST3A1 semapv:UnspecifiedMatching OMIM:604057 HS3ST3A1 skos:exactMatch ncbigene:9955 semapv:UnspecifiedMatching -OMIM:604058 HS3ST3B1 skos:exactMatch ncbigene:9953 semapv:UnspecifiedMatching OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:HS3ST3B1 semapv:UnspecifiedMatching -OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch ncbigene:9953 semapv:UnspecifiedMatching OMIM:604059 HS3ST4 skos:exactMatch ncbigene:9951 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:SEPTIN9 semapv:UnspecifiedMatching OMIM:604061 SEPT9 skos:exactMatch ncbigene:10801 semapv:UnspecifiedMatching OMIM:604062 MED16 skos:exactMatch hgnc.symbol:MED16 semapv:UnspecifiedMatching OMIM:604062 MED16 skos:exactMatch ncbigene:10025 semapv:UnspecifiedMatching -OMIM:604063 ITGA8 skos:exactMatch ncbigene:8516 semapv:UnspecifiedMatching OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:ITGA8 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch ncbigene:8516 semapv:UnspecifiedMatching OMIM:604064 ATF4 skos:exactMatch ncbigene:468 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch UMLS:C1412617 semapv:UnspecifiedMatching OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:ATF4 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch UMLS:C1412617 semapv:UnspecifiedMatching OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:CACNA1G semapv:UnspecifiedMatching OMIM:604065 CACNA1G skos:exactMatch ncbigene:8913 semapv:UnspecifiedMatching OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:B3GALT5 semapv:UnspecifiedMatching @@ -16986,20 +16990,20 @@ OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:RGS9 semapv:UnspecifiedMatching OMIM:604067 RGS9 skos:exactMatch ncbigene:8787 semapv:UnspecifiedMatching OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:TPD52 semapv:UnspecifiedMatching OMIM:604068 TPD52 skos:exactMatch ncbigene:7163 semapv:UnspecifiedMatching -OMIM:604069 TPD52L1 skos:exactMatch ncbigene:7164 semapv:UnspecifiedMatching OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:TPD52L1 semapv:UnspecifiedMatching -OMIM:604070 DGKB skos:exactMatch hgnc.symbol:DGKB semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch ncbigene:7164 semapv:UnspecifiedMatching OMIM:604070 DGKB skos:exactMatch ncbigene:1607 semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch hgnc.symbol:DGKB semapv:UnspecifiedMatching OMIM:604071 DGKH skos:exactMatch hgnc.symbol:DGKH semapv:UnspecifiedMatching OMIM:604071 DGKH skos:exactMatch ncbigene:160851 semapv:UnspecifiedMatching OMIM:604072 DGKI skos:exactMatch hgnc.symbol:DGKI semapv:UnspecifiedMatching OMIM:604072 DGKI skos:exactMatch ncbigene:9162 semapv:UnspecifiedMatching OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:ZNF131 semapv:UnspecifiedMatching OMIM:604073 ZNF131 skos:exactMatch ncbigene:7690 semapv:UnspecifiedMatching -OMIM:604074 ZNF132 skos:exactMatch ncbigene:7691 semapv:UnspecifiedMatching OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:ZNF132 semapv:UnspecifiedMatching -OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:ZNF133 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch ncbigene:7691 semapv:UnspecifiedMatching OMIM:604075 ZNF133 skos:exactMatch ncbigene:7692 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:ZNF133 semapv:UnspecifiedMatching OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:ZNF134 semapv:UnspecifiedMatching OMIM:604076 ZNF134 skos:exactMatch ncbigene:7693 semapv:UnspecifiedMatching OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:ZNF135 semapv:UnspecifiedMatching @@ -17008,59 +17012,59 @@ OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:ZNF136 semapv:UnspecifiedMatching OMIM:604078 ZNF136 skos:exactMatch ncbigene:7695 semapv:UnspecifiedMatching OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:ZNF137P semapv:UnspecifiedMatching OMIM:604079 ZNF137 skos:exactMatch ncbigene:7696 semapv:UnspecifiedMatching -OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:ZNF138 semapv:UnspecifiedMatching OMIM:604080 ZNF138 skos:exactMatch ncbigene:7697 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:ZNF138 semapv:UnspecifiedMatching OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:ZNF140 semapv:UnspecifiedMatching OMIM:604082 ZNF140 skos:exactMatch ncbigene:7699 semapv:UnspecifiedMatching OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:ZNF142 semapv:UnspecifiedMatching OMIM:604083 ZNF142 skos:exactMatch ncbigene:7701 semapv:UnspecifiedMatching OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:ZBTB17 semapv:UnspecifiedMatching OMIM:604084 ZBTB17 skos:exactMatch ncbigene:7709 semapv:UnspecifiedMatching -OMIM:604085 ZNF154 skos:exactMatch ncbigene:7710 semapv:UnspecifiedMatching OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:ZNF154 semapv:UnspecifiedMatching -OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:ZNF155 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch ncbigene:7710 semapv:UnspecifiedMatching OMIM:604086 ZNF155 skos:exactMatch ncbigene:7711 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:ZNF155 semapv:UnspecifiedMatching OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:CYP46A1 semapv:UnspecifiedMatching OMIM:604087 CYP46A1 skos:exactMatch ncbigene:10858 semapv:UnspecifiedMatching OMIM:604088 PP1R17 skos:exactMatch hgnc.symbol:PPP1R17 semapv:UnspecifiedMatching OMIM:604088 PP1R17 skos:exactMatch ncbigene:10842 semapv:UnspecifiedMatching OMIM:604089 HCST skos:exactMatch hgnc.symbol:HCST semapv:UnspecifiedMatching OMIM:604089 HCST skos:exactMatch ncbigene:10870 semapv:UnspecifiedMatching -OMIM:604090 DLG5 skos:exactMatch ncbigene:9231 semapv:UnspecifiedMatching OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:DLG5 semapv:UnspecifiedMatching -OMIM:604092 TTK skos:exactMatch hgnc.symbol:TTK semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch ncbigene:9231 semapv:UnspecifiedMatching OMIM:604092 TTK skos:exactMatch ncbigene:7272 semapv:UnspecifiedMatching -OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:MAD2L2 semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch hgnc.symbol:TTK semapv:UnspecifiedMatching OMIM:604094 MAD2L2 skos:exactMatch ncbigene:10459 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:MAD2L2 semapv:UnspecifiedMatching OMIM:604095 EDAR skos:exactMatch hgnc.symbol:EDAR semapv:UnspecifiedMatching OMIM:604095 EDAR skos:exactMatch ncbigene:10913 semapv:UnspecifiedMatching OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:GRM6 semapv:UnspecifiedMatching OMIM:604096 GRM6 skos:exactMatch ncbigene:2916 semapv:UnspecifiedMatching -OMIM:604097 UTS2 skos:exactMatch ncbigene:10911 semapv:UnspecifiedMatching OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:UTS2 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch ncbigene:10911 semapv:UnspecifiedMatching OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:SUGT1 semapv:UnspecifiedMatching OMIM:604098 SUGT1 skos:exactMatch ncbigene:10910 semapv:UnspecifiedMatching -OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:GRM2 semapv:UnspecifiedMatching OMIM:604099 GRM2 skos:exactMatch ncbigene:2912 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:GRM2 semapv:UnspecifiedMatching OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:GRM4 semapv:UnspecifiedMatching OMIM:604100 GRM4 skos:exactMatch ncbigene:2914 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch ncbigene:2917 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:GRM7 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching OMIM:604101 GRM7 skos:exactMatch UMLS:C1415309 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:GRM7 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch ncbigene:2917 semapv:UnspecifiedMatching OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:GRM5 semapv:UnspecifiedMatching OMIM:604102 GRM5 skos:exactMatch ncbigene:2915 semapv:UnspecifiedMatching -OMIM:604103 MYOT skos:exactMatch hgnc.symbol:MYOT semapv:UnspecifiedMatching OMIM:604103 MYOT skos:exactMatch ncbigene:9499 semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch hgnc.symbol:MYOT semapv:UnspecifiedMatching OMIM:604104 GMFG skos:exactMatch hgnc.symbol:GMFG semapv:UnspecifiedMatching OMIM:604104 GMFG skos:exactMatch ncbigene:9535 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:SYCP2 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch ncbigene:10388 semapv:UnspecifiedMatching OMIM:604105 SYCP2 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching OMIM:604105 SYCP2 skos:exactMatch UMLS:C1420540 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:SYCP2 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch ncbigene:10388 semapv:UnspecifiedMatching OMIM:604106 GPR52 skos:exactMatch ncbigene:9293 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch UMLS:C1415243 semapv:UnspecifiedMatching OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:GPR52 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch UMLS:C1415243 semapv:UnspecifiedMatching OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:GPR55 semapv:UnspecifiedMatching OMIM:604107 GPR55 skos:exactMatch ncbigene:9290 semapv:UnspecifiedMatching OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:MAP7 semapv:UnspecifiedMatching @@ -17069,10 +17073,10 @@ OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:HHLA1 semapv:UnspecifiedMatching OMIM:604109 HHLA1 skos:exactMatch ncbigene:10086 semapv:UnspecifiedMatching OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:ADGRG1 semapv:UnspecifiedMatching OMIM:604110 ADGRG1 skos:exactMatch ncbigene:9289 semapv:UnspecifiedMatching -OMIM:604111 KCNAB3 skos:exactMatch ncbigene:9196 semapv:UnspecifiedMatching OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:KCNAB3 semapv:UnspecifiedMatching -OMIM:604112 SCEL skos:exactMatch hgnc.symbol:SCEL semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch ncbigene:9196 semapv:UnspecifiedMatching OMIM:604112 SCEL skos:exactMatch ncbigene:8796 semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch hgnc.symbol:SCEL semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch UMLS:C1416392 semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch UMLS:C5231406 semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:IL18BP semapv:UnspecifiedMatching @@ -17087,20 +17091,20 @@ OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch UMLS:C1858805 semap OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:RASAL1 semapv:UnspecifiedMatching OMIM:604118 RASAL1 skos:exactMatch ncbigene:8437 semapv:UnspecifiedMatching -OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:SLC12A4 semapv:UnspecifiedMatching OMIM:604119 SLC12A4 skos:exactMatch ncbigene:6560 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:SLC12A4 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch ncbigene:9488 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch hgnc.symbol:PIGB semapv:UnspecifiedMatching OMIM:604122 PIGB skos:exactMatch UMLS:C1418560 semapv:UnspecifiedMatching OMIM:604122 PIGB skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch hgnc.symbol:PIGB semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch ncbigene:9488 semapv:UnspecifiedMatching OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:RNASEH1 semapv:UnspecifiedMatching OMIM:604123 RNASEH1 skos:exactMatch ncbigene:246243 semapv:UnspecifiedMatching OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:RBBP8 semapv:UnspecifiedMatching OMIM:604124 RBBP8 skos:exactMatch ncbigene:5932 semapv:UnspecifiedMatching OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:SULT2B1 semapv:UnspecifiedMatching OMIM:604125 SULT2B1 skos:exactMatch ncbigene:6820 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch ncbigene:6840 semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch ncbigene:6840 semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch UMLS:C1420533 semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch hgnc.symbol:SVIL semapv:UnspecifiedMatching OMIM:604127 TBX15 skos:exactMatch UMLS:C1420605 semapv:UnspecifiedMatching @@ -17109,165 +17113,165 @@ OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:TBX15 semapv:UnspecifiedMatching OMIM:604127 TBX15 skos:exactMatch ncbigene:6913 semapv:UnspecifiedMatching OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:TCEA3 semapv:UnspecifiedMatching OMIM:604128 TCEA3 skos:exactMatch ncbigene:6920 semapv:UnspecifiedMatching -OMIM:604130 UTF1 skos:exactMatch ncbigene:8433 semapv:UnspecifiedMatching OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:UTF1 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1413036 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C5394574 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:ADAMTS13 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch ncbigene:8433 semapv:UnspecifiedMatching OMIM:604134 ADAMTS13 skos:exactMatch ncbigene:11093 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:ADAMTS13 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C5394574 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1413036 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:NFE2L3 semapv:UnspecifiedMatching OMIM:604135 NFE2L3 skos:exactMatch ncbigene:9603 semapv:UnspecifiedMatching OMIM:604136 IL24 skos:exactMatch hgnc.symbol:IL24 semapv:UnspecifiedMatching OMIM:604136 IL24 skos:exactMatch ncbigene:11009 semapv:UnspecifiedMatching -OMIM:604138 GPRC5A skos:exactMatch ncbigene:9052 semapv:UnspecifiedMatching OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:GPRC5A semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch ncbigene:9052 semapv:UnspecifiedMatching OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:DNAJB2 semapv:UnspecifiedMatching OMIM:604139 DNAJB2 skos:exactMatch ncbigene:3300 semapv:UnspecifiedMatching -OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:DIDO1 semapv:UnspecifiedMatching OMIM:604140 DIDO1 skos:exactMatch ncbigene:11083 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:DIDO1 semapv:UnspecifiedMatching OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:ARFGEF1 semapv:UnspecifiedMatching OMIM:604141 ARFGEF1 skos:exactMatch ncbigene:10565 semapv:UnspecifiedMatching -OMIM:604142 TYROBP skos:exactMatch ncbigene:7305 semapv:UnspecifiedMatching OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:TYROBP semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch ncbigene:9700 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:ESPL1 semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch ncbigene:7305 semapv:UnspecifiedMatching OMIM:604143 ESPL1 skos:exactMatch UMLS:C1424597 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:ESPL1 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch ncbigene:9700 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch ncbigene:11136 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:SLC7A9 semapv:UnspecifiedMatching OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C1420228 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:SLC7A9 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch ncbigene:11136 semapv:UnspecifiedMatching OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:SYT7 semapv:UnspecifiedMatching OMIM:604146 SYT7 skos:exactMatch ncbigene:9066 semapv:UnspecifiedMatching -OMIM:604147 PTTG1 skos:exactMatch ncbigene:9232 semapv:UnspecifiedMatching OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:PTTG1 semapv:UnspecifiedMatching -OMIM:604148 SLC13A2 skos:exactMatch ncbigene:9058 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch ncbigene:9232 semapv:UnspecifiedMatching OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:SLC13A2 semapv:UnspecifiedMatching -OMIM:604149 SGCE skos:exactMatch hgnc.symbol:SGCE semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch ncbigene:9058 semapv:UnspecifiedMatching OMIM:604149 SGCE skos:exactMatch ncbigene:8910 semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch hgnc.symbol:SGCE semapv:UnspecifiedMatching OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:POLR2J semapv:UnspecifiedMatching OMIM:604150 POLR2J skos:exactMatch ncbigene:5439 semapv:UnspecifiedMatching OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:UBE2E3 semapv:UnspecifiedMatching OMIM:604151 UBE2E3 skos:exactMatch ncbigene:10477 semapv:UnspecifiedMatching OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:OAZ2 semapv:UnspecifiedMatching OMIM:604152 OAZ2 skos:exactMatch ncbigene:4947 semapv:UnspecifiedMatching -OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:NMUR1 semapv:UnspecifiedMatching -OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching OMIM:604155 LANCL1 skos:exactMatch ncbigene:10314 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:SFRP1 semapv:UnspecifiedMatching OMIM:604156 SFRP1 skos:exactMatch ncbigene:6422 semapv:UnspecifiedMatching OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:SFRP2 semapv:UnspecifiedMatching OMIM:604157 SFRP2 skos:exactMatch ncbigene:6423 semapv:UnspecifiedMatching OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:SFRP5 semapv:UnspecifiedMatching OMIM:604158 SFRP5 skos:exactMatch ncbigene:6425 semapv:UnspecifiedMatching -OMIM:604159 SLC6A5 skos:exactMatch ncbigene:9152 semapv:UnspecifiedMatching OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:SLC6A5 semapv:UnspecifiedMatching -OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:ITGB8 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch ncbigene:9152 semapv:UnspecifiedMatching OMIM:604160 ITGB8 skos:exactMatch ncbigene:3696 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:ITGB8 semapv:UnspecifiedMatching OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:KISS1R semapv:UnspecifiedMatching OMIM:604161 KISS1R skos:exactMatch ncbigene:84634 semapv:UnspecifiedMatching OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:RPL3 semapv:UnspecifiedMatching OMIM:604163 RPL3 skos:exactMatch ncbigene:6122 semapv:UnspecifiedMatching -OMIM:604164 ONECUT1 skos:exactMatch ncbigene:3175 semapv:UnspecifiedMatching OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:ONECUT1 semapv:UnspecifiedMatching -OMIM:604165 SLC25A11 skos:exactMatch ncbigene:8402 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch ncbigene:3175 semapv:UnspecifiedMatching OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:SLC25A11 semapv:UnspecifiedMatching -OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:RPL7 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch ncbigene:8402 semapv:UnspecifiedMatching OMIM:604166 RPL7 skos:exactMatch ncbigene:6129 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:RPL7 semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch UMLS:C1422163 semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch UMLS:C3809686 semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch hgnc.symbol:CTCF semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch ncbigene:10664 semapv:UnspecifiedMatching -OMIM:604170 PLSCR1 skos:exactMatch ncbigene:5359 semapv:UnspecifiedMatching OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:PLSCR1 semapv:UnspecifiedMatching -OMIM:604171 ALYREF skos:exactMatch ncbigene:10189 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch ncbigene:5359 semapv:UnspecifiedMatching OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:ALYREF semapv:UnspecifiedMatching -OMIM:604173 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch ncbigene:10189 semapv:UnspecifiedMatching OMIM:604173 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching +OMIM:604173 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch UMLS:C1419632 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:RPL15 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch ncbigene:6138 semapv:UnspecifiedMatching OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:RPL11 semapv:UnspecifiedMatching OMIM:604175 RPL11 skos:exactMatch ncbigene:6135 semapv:UnspecifiedMatching -OMIM:604176 SOCS3 skos:exactMatch ncbigene:9021 semapv:UnspecifiedMatching OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:SOCS3 semapv:UnspecifiedMatching -OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:RPL8 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch ncbigene:9021 semapv:UnspecifiedMatching OMIM:604177 RPL8 skos:exactMatch ncbigene:6132 semapv:UnspecifiedMatching -OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:RPL18A semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:RPL8 semapv:UnspecifiedMatching OMIM:604178 RPL18A skos:exactMatch ncbigene:6142 semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:RPL18A semapv:UnspecifiedMatching OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:RPL18 semapv:UnspecifiedMatching OMIM:604179 RPL18 skos:exactMatch ncbigene:6141 semapv:UnspecifiedMatching -OMIM:604180 RPL24 skos:exactMatch ncbigene:6152 semapv:UnspecifiedMatching OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:RPL24 semapv:UnspecifiedMatching -OMIM:604181 RPL37 skos:exactMatch ncbigene:6167 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch ncbigene:6152 semapv:UnspecifiedMatching OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:RPL37 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch ncbigene:6167 semapv:UnspecifiedMatching OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:RPL38 semapv:UnspecifiedMatching OMIM:604182 RPL38 skos:exactMatch ncbigene:6169 semapv:UnspecifiedMatching OMIM:604184 PUNC skos:exactMatch hgnc.symbol:IGDCC3 semapv:UnspecifiedMatching OMIM:604184 PUNC skos:exactMatch ncbigene:9543 semapv:UnspecifiedMatching -OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching OMIM:604186 CXCL14 skos:exactMatch ncbigene:9547 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:SELENBP1 semapv:UnspecifiedMatching OMIM:604188 SELENBP1 skos:exactMatch ncbigene:8991 semapv:UnspecifiedMatching -OMIM:604189 DNAJC4 skos:exactMatch ncbigene:3338 semapv:UnspecifiedMatching OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:DNAJC4 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch ncbigene:3338 semapv:UnspecifiedMatching OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:SLC22A4 semapv:UnspecifiedMatching OMIM:604190 SLC22A4 skos:exactMatch ncbigene:6583 semapv:UnspecifiedMatching OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:ZNF263 semapv:UnspecifiedMatching OMIM:604191 ZNF263 skos:exactMatch ncbigene:10127 semapv:UnspecifiedMatching -OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:SLC27A3 semapv:UnspecifiedMatching OMIM:604193 SLC27A3 skos:exactMatch ncbigene:11000 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:SLC27A3 semapv:UnspecifiedMatching OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:SLC27A4 semapv:UnspecifiedMatching OMIM:604194 SLC27A4 skos:exactMatch ncbigene:10999 semapv:UnspecifiedMatching -OMIM:604196 SLC27A6 skos:exactMatch ncbigene:28965 semapv:UnspecifiedMatching OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:SLC27A6 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch ncbigene:28965 semapv:UnspecifiedMatching OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:MTHFS semapv:UnspecifiedMatching OMIM:604197 MTHFS skos:exactMatch ncbigene:10588 semapv:UnspecifiedMatching OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:RAB11B semapv:UnspecifiedMatching OMIM:604198 RAB11B skos:exactMatch ncbigene:9230 semapv:UnspecifiedMatching -OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:RAB35 semapv:UnspecifiedMatching OMIM:604199 RAB35 skos:exactMatch ncbigene:11021 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:RAB35 semapv:UnspecifiedMatching OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:SIGLEC5 semapv:UnspecifiedMatching OMIM:604200 SIGLEC5 skos:exactMatch ncbigene:8778 semapv:UnspecifiedMatching -OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:SNAP29 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching OMIM:604203 STX8 skos:exactMatch hgnc.symbol:STX8 semapv:UnspecifiedMatching OMIM:604203 STX8 skos:exactMatch ncbigene:9482 semapv:UnspecifiedMatching -OMIM:604204 STX17 skos:exactMatch hgnc.symbol:STX17 semapv:UnspecifiedMatching OMIM:604204 STX17 skos:exactMatch ncbigene:55014 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch hgnc.symbol:STX17 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch ncbigene:8904 semapv:UnspecifiedMatching OMIM:604205 CPNE1 skos:exactMatch UMLS:C1413675 semapv:UnspecifiedMatching OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:CPNE1 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch ncbigene:8904 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch ncbigene:221184 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:CPNE2 semapv:UnspecifiedMatching OMIM:604206 CPNE2 skos:exactMatch UMLS:C1413676 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:CPNE2 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch ncbigene:221184 semapv:UnspecifiedMatching OMIM:604207 CPNE3 skos:exactMatch UMLS:C1413677 semapv:UnspecifiedMatching OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:CPNE3 semapv:UnspecifiedMatching OMIM:604207 CPNE3 skos:exactMatch ncbigene:8895 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch UMLS:C1413678 semapv:UnspecifiedMatching OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:CPNE4 semapv:UnspecifiedMatching OMIM:604208 CPNE4 skos:exactMatch ncbigene:131034 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:CPNE5 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch ncbigene:57699 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch UMLS:C1413678 semapv:UnspecifiedMatching OMIM:604209 CPNE5 skos:exactMatch UMLS:C1413679 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:CPNE5 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch ncbigene:57699 semapv:UnspecifiedMatching OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:CRB1 semapv:UnspecifiedMatching OMIM:604210 CRB1 skos:exactMatch ncbigene:23418 semapv:UnspecifiedMatching OMIM:604212 PARN skos:exactMatch hgnc.symbol:PARN semapv:UnspecifiedMatching OMIM:604212 PARN skos:exactMatch ncbigene:5073 semapv:UnspecifiedMatching OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:KRIT1 semapv:UnspecifiedMatching OMIM:604214 KRIT1 skos:exactMatch ncbigene:889 semapv:UnspecifiedMatching -OMIM:604215 ING2 skos:exactMatch hgnc.symbol:ING2 semapv:UnspecifiedMatching OMIM:604215 ING2 skos:exactMatch ncbigene:3622 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch hgnc.symbol:ING2 semapv:UnspecifiedMatching OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:SLC17A4 semapv:UnspecifiedMatching OMIM:604216 SLC17A4 skos:exactMatch ncbigene:10050 semapv:UnspecifiedMatching OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:SLC34A2 semapv:UnspecifiedMatching OMIM:604217 SLC34A2 skos:exactMatch ncbigene:10568 semapv:UnspecifiedMatching OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:ARPC1A semapv:UnspecifiedMatching OMIM:604220 ARPC1A skos:exactMatch ncbigene:10552 semapv:UnspecifiedMatching -OMIM:604221 ACTR2 skos:exactMatch ncbigene:10097 semapv:UnspecifiedMatching OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:ACTR2 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch ncbigene:10097 semapv:UnspecifiedMatching OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:ACTR3 semapv:UnspecifiedMatching OMIM:604222 ACTR3 skos:exactMatch ncbigene:10096 semapv:UnspecifiedMatching OMIM:604223 ARPC1B skos:exactMatch UMLS:C1412546 semapv:UnspecifiedMatching @@ -17276,233 +17280,233 @@ OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:ARPC1B semapv:UnspecifiedMatching OMIM:604223 ARPC1B skos:exactMatch ncbigene:10095 semapv:UnspecifiedMatching OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:ARPC2 semapv:UnspecifiedMatching OMIM:604224 ARPC2 skos:exactMatch ncbigene:10109 semapv:UnspecifiedMatching -OMIM:604225 ARPC3 skos:exactMatch ncbigene:10094 semapv:UnspecifiedMatching OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:ARPC3 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch ncbigene:10094 semapv:UnspecifiedMatching OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:ARPC4 semapv:UnspecifiedMatching OMIM:604226 ARPC4 skos:exactMatch ncbigene:10093 semapv:UnspecifiedMatching -OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:ARPC5 semapv:UnspecifiedMatching OMIM:604227 ARPC5 skos:exactMatch ncbigene:10092 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:ARPC5 semapv:UnspecifiedMatching OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch UMLS:C4310809 semapv:UnspecifiedMatching OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:ADAT1 semapv:UnspecifiedMatching OMIM:604230 ADAT1 skos:exactMatch ncbigene:23536 semapv:UnspecifiedMatching -OMIM:604231 PTTG2 skos:exactMatch ncbigene:10744 semapv:UnspecifiedMatching OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:PTTG2 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch ncbigene:10744 semapv:UnspecifiedMatching OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching -OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:ITGBL1 semapv:UnspecifiedMatching OMIM:604234 ITGBL1 skos:exactMatch ncbigene:9358 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:ITGBL1 semapv:UnspecifiedMatching OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:SLC7A8 semapv:UnspecifiedMatching OMIM:604235 SLC7A8 skos:exactMatch ncbigene:23428 semapv:UnspecifiedMatching -OMIM:604237 CRLF1 skos:exactMatch ncbigene:9244 semapv:UnspecifiedMatching OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:CRLF1 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch ncbigene:6615 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:SNAI1 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch ncbigene:9244 semapv:UnspecifiedMatching OMIM:604238 SNAI1 skos:exactMatch UMLS:C1420267 semapv:UnspecifiedMatching -OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:PSPHP1 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:SNAI1 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch ncbigene:6615 semapv:UnspecifiedMatching OMIM:604239 PSPHL skos:exactMatch ncbigene:8781 semapv:UnspecifiedMatching -OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:TLX2 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:PSPHP1 semapv:UnspecifiedMatching OMIM:604240 TLX2 skos:exactMatch ncbigene:3196 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:TLX2 semapv:UnspecifiedMatching OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:CD2AP semapv:UnspecifiedMatching OMIM:604241 CD2AP skos:exactMatch ncbigene:23607 semapv:UnspecifiedMatching -OMIM:604242 RNF6 skos:exactMatch ncbigene:6049 semapv:UnspecifiedMatching OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:RNF6 semapv:UnspecifiedMatching -OMIM:604249 RTN3 skos:exactMatch ncbigene:10313 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch ncbigene:6049 semapv:UnspecifiedMatching OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:RTN3 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch ncbigene:10313 semapv:UnspecifiedMatching OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:CABIN1 semapv:UnspecifiedMatching OMIM:604251 calcineurin-binding protein 1 skos:exactMatch ncbigene:23523 semapv:UnspecifiedMatching -OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:BACE1 semapv:UnspecifiedMatching OMIM:604252 BACE1 skos:exactMatch ncbigene:23621 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:BACE1 semapv:UnspecifiedMatching OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:CSNK1G3 semapv:UnspecifiedMatching OMIM:604253 CSNK1G3 skos:exactMatch ncbigene:1456 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch UMLS:C1825796 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:LBX1 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch ncbigene:10660 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch ncbigene:8553 semapv:UnspecifiedMatching OMIM:604256 BHLHE40 skos:exactMatch UMLS:C1412793 semapv:UnspecifiedMatching OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:BHLHE40 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch ncbigene:8553 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch ncbigene:10395 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:DLC1 semapv:UnspecifiedMatching OMIM:604258 DLC1 skos:exactMatch UMLS:C1366509 semapv:UnspecifiedMatching OMIM:604258 DLC1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:DLC1 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch ncbigene:10395 semapv:UnspecifiedMatching OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:PLXNC1 semapv:UnspecifiedMatching OMIM:604259 PLXNC1 skos:exactMatch ncbigene:10154 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch ncbigene:6777 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:STAT5B semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch UMLS:C1335876 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching -OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:ATG5 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:STAT5B semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch ncbigene:6777 semapv:UnspecifiedMatching OMIM:604261 ATG5 skos:exactMatch ncbigene:9474 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:ATG5 semapv:UnspecifiedMatching OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:APBA3 semapv:UnspecifiedMatching OMIM:604262 APBA3 skos:exactMatch ncbigene:9546 semapv:UnspecifiedMatching OMIM:604263 PRND skos:exactMatch hgnc.symbol:PRND semapv:UnspecifiedMatching OMIM:604263 PRND skos:exactMatch ncbigene:23627 semapv:UnspecifiedMatching -OMIM:604264 CELSR3 skos:exactMatch ncbigene:1951 semapv:UnspecifiedMatching OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:CELSR3 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch ncbigene:1951 semapv:UnspecifiedMatching OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:CELSR2 semapv:UnspecifiedMatching OMIM:604265 CELSR2 skos:exactMatch ncbigene:1952 semapv:UnspecifiedMatching -OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:MEGF6 semapv:UnspecifiedMatching OMIM:604266 MEGF6 skos:exactMatch ncbigene:1953 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:MEGF6 semapv:UnspecifiedMatching OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:MEGF8 semapv:UnspecifiedMatching OMIM:604267 MEGF8 skos:exactMatch ncbigene:1954 semapv:UnspecifiedMatching -OMIM:604268 MEGF9 skos:exactMatch ncbigene:1955 semapv:UnspecifiedMatching OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:MEGF9 semapv:UnspecifiedMatching -OMIM:604269 FAT2 skos:exactMatch ncbigene:2196 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch ncbigene:1955 semapv:UnspecifiedMatching OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:FAT2 semapv:UnspecifiedMatching -OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:LRP4 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch ncbigene:2196 semapv:UnspecifiedMatching OMIM:604270 LRP4 skos:exactMatch ncbigene:4038 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:LRP4 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C1419873 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C1837148 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:SCO2 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch ncbigene:9997 semapv:UnspecifiedMatching OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:KLRA1P semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch ncbigene:10748 semapv:UnspecifiedMatching OMIM:604274 KLRA1P skos:exactMatch UMLS:C1334309 semapv:UnspecifiedMatching -OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:CTNND2 semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch ncbigene:10748 semapv:UnspecifiedMatching OMIM:604275 CTNND2 skos:exactMatch ncbigene:1501 semapv:UnspecifiedMatching -OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:PKP4 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:CTNND2 semapv:UnspecifiedMatching OMIM:604276 PKP4 skos:exactMatch ncbigene:8502 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:PKP4 semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch hgnc.symbol:SPAST semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch ncbigene:6683 semapv:UnspecifiedMatching -OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching OMIM:604279 JMY skos:exactMatch hgnc.symbol:JMY semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch ncbigene:91584 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:PLXNA4 semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching OMIM:604280 PLXNA4 skos:exactMatch UMLS:C1826602 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch UMLS:C1332118 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:PLXNA4 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch ncbigene:91584 semapv:UnspecifiedMatching OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:DBF4 semapv:UnspecifiedMatching OMIM:604281 DBF4 skos:exactMatch ncbigene:10926 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch UMLS:C1332118 semapv:UnspecifiedMatching OMIM:604282 PLXND1 skos:exactMatch UMLS:C1418668 semapv:UnspecifiedMatching OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:PLXND1 semapv:UnspecifiedMatching OMIM:604282 PLXND1 skos:exactMatch ncbigene:23129 semapv:UnspecifiedMatching OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:PRG4 semapv:UnspecifiedMatching OMIM:604283 PRG4 skos:exactMatch ncbigene:10216 semapv:UnspecifiedMatching -OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching OMIM:604285 AGXT skos:exactMatch hgnc.symbol:AGXT semapv:UnspecifiedMatching -OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching OMIM:604289 RAD54B skos:exactMatch ncbigene:25788 semapv:UnspecifiedMatching -OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:PLXNB2 semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching OMIM:604293 PLXNB2 skos:exactMatch ncbigene:23654 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:PLXNB2 semapv:UnspecifiedMatching OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:VAX1 semapv:UnspecifiedMatching OMIM:604294 VAX1 skos:exactMatch ncbigene:11023 semapv:UnspecifiedMatching OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:VAX2 semapv:UnspecifiedMatching OMIM:604295 VAX2 skos:exactMatch ncbigene:25806 semapv:UnspecifiedMatching -OMIM:604296 GRHPR skos:exactMatch ncbigene:9380 semapv:UnspecifiedMatching OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:GRHPR semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch UMLS:C1420552 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch ncbigene:9380 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch ncbigene:8867 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:SYNJ1 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch ncbigene:8867 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch UMLS:C1420552 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:STAP1 semapv:UnspecifiedMatching OMIM:604298 STAP1 skos:exactMatch ncbigene:26228 semapv:UnspecifiedMatching -OMIM:604299 APPL1 skos:exactMatch ncbigene:26060 semapv:UnspecifiedMatching OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:APPL1 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch ncbigene:26060 semapv:UnspecifiedMatching OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:HACL1 semapv:UnspecifiedMatching OMIM:604300 HACL1 skos:exactMatch ncbigene:26061 semapv:UnspecifiedMatching OMIM:604301 oculomedin skos:exactMatch UMLS:C1417927 semapv:UnspecifiedMatching -OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching +OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:ACTL7A semapv:UnspecifiedMatching OMIM:604303 ACTL7A skos:exactMatch ncbigene:10881 semapv:UnspecifiedMatching -OMIM:604304 ACTL7B skos:exactMatch ncbigene:10880 semapv:UnspecifiedMatching OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:ACTL7B semapv:UnspecifiedMatching -OMIM:604305 HLA-DQB1 skos:exactMatch ncbigene:3119 semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch ncbigene:10880 semapv:UnspecifiedMatching OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:HLA-DQB1 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch ncbigene:3119 semapv:UnspecifiedMatching OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:FAIM2 semapv:UnspecifiedMatching OMIM:604306 FAIM2 skos:exactMatch ncbigene:23017 semapv:UnspecifiedMatching -OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:SLC13A4 semapv:UnspecifiedMatching OMIM:604309 SLC13A4 skos:exactMatch ncbigene:26266 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:SLC13A4 semapv:UnspecifiedMatching OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:BLOC1S6 semapv:UnspecifiedMatching OMIM:604310 BLOC1S6 skos:exactMatch ncbigene:26258 semapv:UnspecifiedMatching OMIM:604311 MED1 skos:exactMatch hgnc.symbol:MED1 semapv:UnspecifiedMatching OMIM:604311 MED1 skos:exactMatch ncbigene:5469 semapv:UnspecifiedMatching -OMIM:604312 CST3 skos:exactMatch ncbigene:1471 semapv:UnspecifiedMatching OMIM:604312 CST3 skos:exactMatch hgnc.symbol:CST3 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch UMLS:C1414948 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch ncbigene:1471 semapv:UnspecifiedMatching OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:GALK1 semapv:UnspecifiedMatching OMIM:604313 GALK1 skos:exactMatch ncbigene:2584 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch UMLS:C1414948 semapv:UnspecifiedMatching OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:GTF2IRD1 semapv:UnspecifiedMatching OMIM:604318 GTF2IRD1 skos:exactMatch ncbigene:9569 semapv:UnspecifiedMatching OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:TINF2 semapv:UnspecifiedMatching OMIM:604319 TINF2 skos:exactMatch ncbigene:26277 semapv:UnspecifiedMatching OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:SLC17A5 semapv:UnspecifiedMatching OMIM:604322 SLC17A5 skos:exactMatch ncbigene:26503 semapv:UnspecifiedMatching -OMIM:604323 ABCC3 skos:exactMatch ncbigene:8714 semapv:UnspecifiedMatching OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:ABCC3 semapv:UnspecifiedMatching -OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:PPP2R2B semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch ncbigene:8714 semapv:UnspecifiedMatching OMIM:604325 PPP2R2B skos:exactMatch ncbigene:5521 semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:PPP2R2B semapv:UnspecifiedMatching OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:B4GALT7 semapv:UnspecifiedMatching OMIM:604327 B4GALT7 skos:exactMatch ncbigene:11285 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch UMLS:C1420432 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:SSRP1 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch ncbigene:6749 semapv:UnspecifiedMatching -OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching OMIM:604330 GRAP skos:exactMatch hgnc.symbol:GRAP semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:INTS6 semapv:UnspecifiedMatching OMIM:604331 INTS6 skos:exactMatch ncbigene:26512 semapv:UnspecifiedMatching -OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:CHIC2 semapv:UnspecifiedMatching OMIM:604332 CHIC2 skos:exactMatch ncbigene:26511 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:CHIC2 semapv:UnspecifiedMatching OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:CIAO1 semapv:UnspecifiedMatching OMIM:604333 CIAO1 skos:exactMatch ncbigene:9391 semapv:UnspecifiedMatching -OMIM:604334 USP6 skos:exactMatch ncbigene:9098 semapv:UnspecifiedMatching OMIM:604334 USP6 skos:exactMatch hgnc.symbol:USP6 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch ncbigene:7179 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch hgnc.symbol:TPTE semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch ncbigene:9098 semapv:UnspecifiedMatching OMIM:604336 TPTE skos:exactMatch UMLS:C1420883 semapv:UnspecifiedMatching -OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:CLCA3P semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch hgnc.symbol:TPTE semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch ncbigene:7179 semapv:UnspecifiedMatching OMIM:604337 CLCA3P skos:exactMatch ncbigene:9629 semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:CLCA3P semapv:UnspecifiedMatching OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:MAN1A1 semapv:UnspecifiedMatching OMIM:604344 MAN1A1 skos:exactMatch ncbigene:4121 semapv:UnspecifiedMatching OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:MAN1A2 semapv:UnspecifiedMatching OMIM:604345 MAN1A2 skos:exactMatch ncbigene:10905 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch ncbigene:11253 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:MAN1B1 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch UMLS:C1416994 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching -OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:ZRANB2 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:MAN1B1 semapv:UnspecifiedMatching OMIM:604347 ZRANB2 skos:exactMatch ncbigene:9406 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:ZRANB2 semapv:UnspecifiedMatching OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:LAMC3 semapv:UnspecifiedMatching OMIM:604349 LAMC3 skos:exactMatch ncbigene:10319 semapv:UnspecifiedMatching OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:RAB3D semapv:UnspecifiedMatching OMIM:604350 RAB3D skos:exactMatch ncbigene:9545 semapv:UnspecifiedMatching OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:PHF2 semapv:UnspecifiedMatching OMIM:604351 PHF2 skos:exactMatch ncbigene:5253 semapv:UnspecifiedMatching -OMIM:604353 CHORDC1 skos:exactMatch ncbigene:26973 semapv:UnspecifiedMatching OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:CHORDC1 semapv:UnspecifiedMatching -OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:NUFIP1 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch ncbigene:26973 semapv:UnspecifiedMatching OMIM:604354 NUFIP1 skos:exactMatch ncbigene:26747 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:NUFIP1 semapv:UnspecifiedMatching OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:COPG2 semapv:UnspecifiedMatching OMIM:604355 COPG2 skos:exactMatch ncbigene:26958 semapv:UnspecifiedMatching OMIM:604356 duane retraction syndrome 2 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching OMIM:604356 duane retraction syndrome 2 skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:MAB21L2 semapv:UnspecifiedMatching OMIM:604357 MAB21L2 skos:exactMatch ncbigene:10586 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching OMIM:604358 STAG1 skos:exactMatch ncbigene:10274 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch UMLS:C1420448 semapv:UnspecifiedMatching OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:STAG1 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch UMLS:C1420448 semapv:UnspecifiedMatching OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:LMO7 semapv:UnspecifiedMatching OMIM:604362 LMO7 skos:exactMatch ncbigene:4008 semapv:UnspecifiedMatching -OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C1858477 semapv:UnspecifiedMatching OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C4551983 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:PROM1 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch ncbigene:8842 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:PROM1 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C1418946 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C0339512 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:DNAI1 semapv:UnspecifiedMatching OMIM:604366 DNAI1 skos:exactMatch ncbigene:27019 semapv:UnspecifiedMatching -OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:GPNMB semapv:UnspecifiedMatching OMIM:604368 GPNMB skos:exactMatch ncbigene:10457 semapv:UnspecifiedMatching -OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:HHLA2 semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:GPNMB semapv:UnspecifiedMatching OMIM:604371 HHLA2 skos:exactMatch ncbigene:11148 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:HHLA2 semapv:UnspecifiedMatching OMIM:604372 HHLA3 skos:exactMatch hgnc.symbol:HHLA3 semapv:UnspecifiedMatching OMIM:604372 HHLA3 skos:exactMatch ncbigene:11147 semapv:UnspecifiedMatching OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:CHEK2 semapv:UnspecifiedMatching @@ -17513,9 +17517,9 @@ OMIM:604375 HGS skos:exactMatch hgnc.symbol:HGS semapv:UnspecifiedMatching OMIM:604375 HGS skos:exactMatch ncbigene:9146 semapv:UnspecifiedMatching OMIM:604376 MPZL1 skos:exactMatch ncbigene:9019 semapv:UnspecifiedMatching OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:MPZL1 semapv:UnspecifiedMatching -OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C1858424 semapv:UnspecifiedMatching OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:604378 BECN1 skos:exactMatch UMLS:C1412785 semapv:UnspecifiedMatching OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:BECN1 semapv:UnspecifiedMatching OMIM:604378 BECN1 skos:exactMatch ncbigene:8678 semapv:UnspecifiedMatching @@ -17524,70 +17528,70 @@ OMIM:604383 GFI1B skos:exactMatch ncbigene:8328 semapv:UnspecifiedMatching OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:ATP2C1 semapv:UnspecifiedMatching OMIM:604384 ATP2C1 skos:exactMatch ncbigene:27032 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch ncbigene:11280 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:SCN11A semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch UMLS:C1419854 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch UMLS:C3809882 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:TRPS1 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch UMLS:C1419854 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C1421175 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:TRPS1 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch ncbigene:7227 semapv:UnspecifiedMatching -OMIM:604388 GNG4 skos:exactMatch ncbigene:2786 semapv:UnspecifiedMatching OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:GNG4 semapv:UnspecifiedMatching -OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:GNG10 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch ncbigene:2786 semapv:UnspecifiedMatching OMIM:604389 GNG10 skos:exactMatch ncbigene:2790 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:GNG10 semapv:UnspecifiedMatching OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:GNG11 semapv:UnspecifiedMatching OMIM:604390 GNG11 skos:exactMatch ncbigene:2791 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:AIPL1 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch ncbigene:23746 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751764 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C1412303 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751763 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751764 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:AIPL1 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch ncbigene:23746 semapv:UnspecifiedMatching OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:GNA12 semapv:UnspecifiedMatching OMIM:604394 GNA12 skos:exactMatch ncbigene:2768 semapv:UnspecifiedMatching -OMIM:604395 MLH3 skos:exactMatch ncbigene:27030 semapv:UnspecifiedMatching OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:MLH3 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch ncbigene:9869 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:SETDB1 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch ncbigene:27030 semapv:UnspecifiedMatching OMIM:604396 SETDB1 skos:exactMatch UMLS:C1335812 semapv:UnspecifiedMatching -OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:GNA14 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:SETDB1 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch ncbigene:9869 semapv:UnspecifiedMatching OMIM:604397 GNA14 skos:exactMatch ncbigene:9630 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:GNA14 semapv:UnspecifiedMatching OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:SCGB2A1 semapv:UnspecifiedMatching OMIM:604398 SCGB2A1 skos:exactMatch ncbigene:4246 semapv:UnspecifiedMatching OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:PPP1R1B semapv:UnspecifiedMatching OMIM:604399 PPP1R1B skos:exactMatch ncbigene:84152 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch ncbigene:8869 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:ST3GAL5 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1539863 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:ST3GAL5 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch ncbigene:8869 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching -OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:GPC6 semapv:UnspecifiedMatching OMIM:604404 GPC6 skos:exactMatch ncbigene:10082 semapv:UnspecifiedMatching OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:SIGLEC6 semapv:UnspecifiedMatching OMIM:604405 SIGLEC6 skos:exactMatch ncbigene:946 semapv:UnspecifiedMatching -OMIM:604406 GNA13 skos:exactMatch ncbigene:10672 semapv:UnspecifiedMatching OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:GNA13 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch ncbigene:10672 semapv:UnspecifiedMatching OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:LETM1 semapv:UnspecifiedMatching OMIM:604407 LETM1 skos:exactMatch ncbigene:3954 semapv:UnspecifiedMatching -OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:GMEB1 semapv:UnspecifiedMatching OMIM:604409 GMEB1 skos:exactMatch ncbigene:10691 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:GMEB1 semapv:UnspecifiedMatching OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:SIGLEC7 semapv:UnspecifiedMatching OMIM:604410 SIGLEC7 skos:exactMatch ncbigene:27036 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch ncbigene:3619 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch hgnc.symbol:INCENP semapv:UnspecifiedMatching OMIM:604411 INCENP skos:exactMatch UMLS:C1416432 semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch hgnc.symbol:INCENP semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch ncbigene:3619 semapv:UnspecifiedMatching OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:TCL6 semapv:UnspecifiedMatching OMIM:604412 TCL6 skos:exactMatch ncbigene:27004 semapv:UnspecifiedMatching -OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:POLR2F semapv:UnspecifiedMatching OMIM:604414 POLR2F skos:exactMatch ncbigene:5435 semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:POLR2F semapv:UnspecifiedMatching OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:STEAP1 semapv:UnspecifiedMatching OMIM:604415 STEAP1 skos:exactMatch ncbigene:26872 semapv:UnspecifiedMatching OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:AFF4 semapv:UnspecifiedMatching @@ -17596,10 +17600,10 @@ OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:GJB6 semapv:UnspecifiedMatching OMIM:604418 GJB6 skos:exactMatch ncbigene:10804 semapv:UnspecifiedMatching OMIM:604419 POLQ skos:exactMatch hgnc.symbol:POLQ semapv:UnspecifiedMatching OMIM:604419 POLQ skos:exactMatch ncbigene:10721 semapv:UnspecifiedMatching -OMIM:604420 HHEX skos:exactMatch ncbigene:3087 semapv:UnspecifiedMatching OMIM:604420 HHEX skos:exactMatch hgnc.symbol:HHEX semapv:UnspecifiedMatching -OMIM:604421 PDCL skos:exactMatch ncbigene:5082 semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch ncbigene:3087 semapv:UnspecifiedMatching OMIM:604421 PDCL skos:exactMatch hgnc.symbol:PDCL semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch ncbigene:5082 semapv:UnspecifiedMatching OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:PNLIPRP1 semapv:UnspecifiedMatching OMIM:604422 PNLIPRP1 skos:exactMatch ncbigene:5407 semapv:UnspecifiedMatching OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:PNLIPRP2 semapv:UnspecifiedMatching @@ -17610,35 +17614,35 @@ OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:LHX8 semapv:UnspecifiedMatching OMIM:604425 LHX8 skos:exactMatch ncbigene:431707 semapv:UnspecifiedMatching OMIM:604426 CYP4F2 skos:exactMatch ncbigene:8529 semapv:UnspecifiedMatching OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:CYP4F2 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch UMLS:C1419853 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:SCN10A semapv:UnspecifiedMatching OMIM:604427 SCN10A skos:exactMatch ncbigene:6336 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:SCN10A semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch UMLS:C1419853 semapv:UnspecifiedMatching OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:PRRG2 semapv:UnspecifiedMatching OMIM:604429 PRRG2 skos:exactMatch ncbigene:5639 semapv:UnspecifiedMatching OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:GNG7 semapv:UnspecifiedMatching OMIM:604430 GNG7 skos:exactMatch ncbigene:2788 semapv:UnspecifiedMatching -OMIM:604433 KCNE3 skos:exactMatch ncbigene:10008 semapv:UnspecifiedMatching OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:KCNE3 semapv:UnspecifiedMatching -OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:KLK11 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch ncbigene:10008 semapv:UnspecifiedMatching OMIM:604434 KLK11 skos:exactMatch ncbigene:11012 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:KLK11 semapv:UnspecifiedMatching OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:PLPBP semapv:UnspecifiedMatching OMIM:604436 PLPBP skos:exactMatch ncbigene:11212 semapv:UnspecifiedMatching OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:SLC38A3 semapv:UnspecifiedMatching OMIM:604437 SLC38A3 skos:exactMatch ncbigene:10991 semapv:UnspecifiedMatching -OMIM:604438 KLK7 skos:exactMatch ncbigene:5650 semapv:UnspecifiedMatching OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:KLK7 semapv:UnspecifiedMatching -OMIM:604439 GAB1 skos:exactMatch ncbigene:2549 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch ncbigene:5650 semapv:UnspecifiedMatching OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:GAB1 semapv:UnspecifiedMatching -OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:CIDEA semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch ncbigene:2549 semapv:UnspecifiedMatching OMIM:604440 CIDEA skos:exactMatch ncbigene:1149 semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:CIDEA semapv:UnspecifiedMatching OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:CIDEB semapv:UnspecifiedMatching OMIM:604441 CIDEB skos:exactMatch ncbigene:27141 semapv:UnspecifiedMatching -OMIM:604443 ACSL6 skos:exactMatch ncbigene:23305 semapv:UnspecifiedMatching OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:ACSL6 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch ncbigene:23305 semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch UMLS:C1428947 semapv:UnspecifiedMatching OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:BAMBI semapv:UnspecifiedMatching OMIM:604444 BAMBI skos:exactMatch ncbigene:25805 semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch UMLS:C1428947 semapv:UnspecifiedMatching OMIM:604445 PI13 skos:exactMatch ncbigene:5275 semapv:UnspecifiedMatching OMIM:604445 PI13 skos:exactMatch hgnc.symbol:SERPINB13 semapv:UnspecifiedMatching OMIM:604446 PTER skos:exactMatch hgnc.symbol:PTER semapv:UnspecifiedMatching @@ -17649,265 +17653,265 @@ OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:CYTIP semapv:UnspecifiedMatching OMIM:604448 CYTIP skos:exactMatch ncbigene:9595 semapv:UnspecifiedMatching OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:PSMD11 semapv:UnspecifiedMatching OMIM:604449 PSMD11 skos:exactMatch ncbigene:5717 semapv:UnspecifiedMatching -OMIM:604450 PSMD12 skos:exactMatch ncbigene:5718 semapv:UnspecifiedMatching OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:PSMD12 semapv:UnspecifiedMatching -OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:PSMD5 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch ncbigene:5718 semapv:UnspecifiedMatching OMIM:604452 PSMD5 skos:exactMatch ncbigene:5711 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:PSMD5 semapv:UnspecifiedMatching OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:NR5A2 semapv:UnspecifiedMatching OMIM:604453 NR5A2 skos:exactMatch ncbigene:2494 semapv:UnspecifiedMatching OMIM:604455 SARDH skos:exactMatch hgnc.symbol:SARDH semapv:UnspecifiedMatching OMIM:604455 SARDH skos:exactMatch ncbigene:1757 semapv:UnspecifiedMatching OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:IFITM1 semapv:UnspecifiedMatching OMIM:604456 IFITM1 skos:exactMatch ncbigene:8519 semapv:UnspecifiedMatching -OMIM:604457 SP110 skos:exactMatch ncbigene:3431 semapv:UnspecifiedMatching OMIM:604457 SP110 skos:exactMatch hgnc.symbol:SP110 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch UMLS:C1334136 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch UMLS:C4016888 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:IRAK3 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch ncbigene:3431 semapv:UnspecifiedMatching OMIM:604459 IRAK3 skos:exactMatch ncbigene:11213 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:IRAK3 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch UMLS:C4016888 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch UMLS:C1334136 semapv:UnspecifiedMatching OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:FAF1 semapv:UnspecifiedMatching OMIM:604460 FAF1 skos:exactMatch ncbigene:11124 semapv:UnspecifiedMatching -OMIM:604461 HPV6AI1 skos:exactMatch ncbigene:3259 semapv:UnspecifiedMatching OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:HPV6AI1 semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch ncbigene:54910 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch ncbigene:3259 semapv:UnspecifiedMatching OMIM:604462 SEMA4C skos:exactMatch UMLS:C1419949 semapv:UnspecifiedMatching OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:SEMA4C semapv:UnspecifiedMatching -OMIM:604463 CD160 skos:exactMatch hgnc.symbol:CD160 semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch ncbigene:54910 semapv:UnspecifiedMatching OMIM:604463 CD160 skos:exactMatch ncbigene:11126 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch hgnc.symbol:CD160 semapv:UnspecifiedMatching OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:ITSN2 semapv:UnspecifiedMatching OMIM:604464 ITSN2 skos:exactMatch ncbigene:50618 semapv:UnspecifiedMatching OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:SH3GL2 semapv:UnspecifiedMatching OMIM:604465 SH3GL2 skos:exactMatch ncbigene:6456 semapv:UnspecifiedMatching OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:METTL1 semapv:UnspecifiedMatching OMIM:604466 METTL1 skos:exactMatch ncbigene:4234 semapv:UnspecifiedMatching -OMIM:604467 MMD skos:exactMatch ncbigene:23531 semapv:UnspecifiedMatching OMIM:604467 MMD skos:exactMatch hgnc.symbol:MMD semapv:UnspecifiedMatching -OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:MAP3K6 semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch ncbigene:23531 semapv:UnspecifiedMatching OMIM:604468 MAP3K6 skos:exactMatch ncbigene:9064 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:MAP3K6 semapv:UnspecifiedMatching OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:EXOC5 semapv:UnspecifiedMatching OMIM:604469 EXOC5 skos:exactMatch ncbigene:10640 semapv:UnspecifiedMatching OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:CD2BP2 semapv:UnspecifiedMatching OMIM:604470 CD2BP2 skos:exactMatch ncbigene:10421 semapv:UnspecifiedMatching -OMIM:604471 SLC1A7 skos:exactMatch ncbigene:6512 semapv:UnspecifiedMatching OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:SLC1A7 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch ncbigene:6512 semapv:UnspecifiedMatching OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:TNFSF13 semapv:UnspecifiedMatching OMIM:604472 TNFSF13 skos:exactMatch ncbigene:8741 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C1333711 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:GRM1 semapv:UnspecifiedMatching OMIM:604473 GRM1 skos:exactMatch ncbigene:2911 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:GRM1 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C1333711 semapv:UnspecifiedMatching OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:RTN4 semapv:UnspecifiedMatching OMIM:604475 RTN4 skos:exactMatch ncbigene:57142 semapv:UnspecifiedMatching -OMIM:604477 CBX3 skos:exactMatch ncbigene:11335 semapv:UnspecifiedMatching OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:CBX3 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch ncbigene:11335 semapv:UnspecifiedMatching OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:CBX5 semapv:UnspecifiedMatching OMIM:604478 CBX5 skos:exactMatch ncbigene:23468 semapv:UnspecifiedMatching -OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:SIRT1 semapv:UnspecifiedMatching OMIM:604479 SIRT1 skos:exactMatch ncbigene:23411 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:SIRT1 semapv:UnspecifiedMatching OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:SIRT2 semapv:UnspecifiedMatching OMIM:604480 SIRT2 skos:exactMatch ncbigene:22933 semapv:UnspecifiedMatching -OMIM:604481 SIRT3 skos:exactMatch ncbigene:23410 semapv:UnspecifiedMatching OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:SIRT3 semapv:UnspecifiedMatching -OMIM:604482 SIRT4 skos:exactMatch ncbigene:23409 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch ncbigene:23410 semapv:UnspecifiedMatching OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:SIRT4 semapv:UnspecifiedMatching -OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:SIRT5 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch ncbigene:23409 semapv:UnspecifiedMatching OMIM:604483 SIRT5 skos:exactMatch ncbigene:23408 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:SIRT5 semapv:UnspecifiedMatching OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:NR2E3 semapv:UnspecifiedMatching OMIM:604485 NR2E3 skos:exactMatch ncbigene:10002 semapv:UnspecifiedMatching -OMIM:604486 PPIF skos:exactMatch ncbigene:10105 semapv:UnspecifiedMatching OMIM:604486 PPIF skos:exactMatch hgnc.symbol:PPIF semapv:UnspecifiedMatching -OMIM:604487 OTOG skos:exactMatch ncbigene:340990 semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch ncbigene:10105 semapv:UnspecifiedMatching OMIM:604487 OTOG skos:exactMatch hgnc.symbol:OTOG semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch ncbigene:340990 semapv:UnspecifiedMatching OMIM:604488 TCAP skos:exactMatch hgnc.symbol:TCAP semapv:UnspecifiedMatching OMIM:604488 TCAP skos:exactMatch ncbigene:8557 semapv:UnspecifiedMatching -OMIM:604489 AMACR skos:exactMatch hgnc.symbol:AMACR semapv:UnspecifiedMatching OMIM:604489 AMACR skos:exactMatch ncbigene:23600 semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch hgnc.symbol:AMACR semapv:UnspecifiedMatching OMIM:604490 SACS skos:exactMatch hgnc.symbol:SACS semapv:UnspecifiedMatching OMIM:604490 SACS skos:exactMatch ncbigene:26278 semapv:UnspecifiedMatching OMIM:604491 CBLB skos:exactMatch UMLS:C1332672 semapv:UnspecifiedMatching OMIM:604491 CBLB skos:exactMatch hgnc.symbol:CBLB semapv:UnspecifiedMatching OMIM:604491 CBLB skos:exactMatch ncbigene:868 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch ncbigene:7416 semapv:UnspecifiedMatching OMIM:604492 VDAC1 skos:exactMatch UMLS:C1336930 semapv:UnspecifiedMatching OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:VDAC1 semapv:UnspecifiedMatching -OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:GJB5 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch ncbigene:7416 semapv:UnspecifiedMatching OMIM:604493 GJB5 skos:exactMatch ncbigene:2709 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:GJB5 semapv:UnspecifiedMatching OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:IL18R1 semapv:UnspecifiedMatching OMIM:604494 IL18R1 skos:exactMatch ncbigene:8809 semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch ncbigene:4793 semapv:UnspecifiedMatching OMIM:604495 NFKBIB skos:exactMatch UMLS:C1417709 semapv:UnspecifiedMatching OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:NFKBIB semapv:UnspecifiedMatching -OMIM:604496 NKIRAS1 skos:exactMatch ncbigene:28512 semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch ncbigene:4793 semapv:UnspecifiedMatching OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:NKIRAS1 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch ncbigene:28512 semapv:UnspecifiedMatching OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:NKIRAS2 semapv:UnspecifiedMatching OMIM:604497 NKIRAS2 skos:exactMatch ncbigene:28511 semapv:UnspecifiedMatching -OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching OMIM:604500 ZNHIT3 skos:exactMatch ncbigene:9326 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:TRIP4 semapv:UnspecifiedMatching OMIM:604501 TRIP4 skos:exactMatch ncbigene:9325 semapv:UnspecifiedMatching OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:HMGN3 semapv:UnspecifiedMatching OMIM:604502 HMGN3 skos:exactMatch ncbigene:9324 semapv:UnspecifiedMatching -OMIM:604503 JMJD1C skos:exactMatch ncbigene:221037 semapv:UnspecifiedMatching OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:JMJD1C semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch ncbigene:221037 semapv:UnspecifiedMatching OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:TRIP10 semapv:UnspecifiedMatching OMIM:604504 TRIP10 skos:exactMatch ncbigene:9322 semapv:UnspecifiedMatching -OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:TRIP11 semapv:UnspecifiedMatching OMIM:604505 TRIP11 skos:exactMatch ncbigene:9321 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:TRIP11 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch UMLS:C1421147 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:TRIP12 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch ncbigene:9320 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch ncbigene:9319 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:TRIP13 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch ncbigene:9319 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch UMLS:C1421148 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching OMIM:604508 COPS2 skos:exactMatch UMLS:C1539124 semapv:UnspecifiedMatching OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:COPS2 semapv:UnspecifiedMatching OMIM:604508 COPS2 skos:exactMatch ncbigene:9318 semapv:UnspecifiedMatching OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:IL18RAP semapv:UnspecifiedMatching OMIM:604509 IL18RAP skos:exactMatch ncbigene:8807 semapv:UnspecifiedMatching -OMIM:604510 HYAL4 skos:exactMatch ncbigene:23553 semapv:UnspecifiedMatching OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:HYAL4 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch ncbigene:23553 semapv:UnspecifiedMatching OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:CBX1 semapv:UnspecifiedMatching OMIM:604511 CBX1 skos:exactMatch ncbigene:10951 semapv:UnspecifiedMatching OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:IL1RL2 semapv:UnspecifiedMatching OMIM:604512 IL1RL2 skos:exactMatch ncbigene:8808 semapv:UnspecifiedMatching -OMIM:604513 CD84 skos:exactMatch hgnc.symbol:CD84 semapv:UnspecifiedMatching OMIM:604513 CD84 skos:exactMatch ncbigene:8832 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch hgnc.symbol:CD84 semapv:UnspecifiedMatching OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:SH2D2A semapv:UnspecifiedMatching OMIM:604514 SH2D2A skos:exactMatch ncbigene:9047 semapv:UnspecifiedMatching -OMIM:604515 BLNK skos:exactMatch ncbigene:29760 semapv:UnspecifiedMatching OMIM:604515 BLNK skos:exactMatch hgnc.symbol:BLNK semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch ncbigene:29760 semapv:UnspecifiedMatching OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:CD101 semapv:UnspecifiedMatching OMIM:604516 IGSF2 skos:exactMatch ncbigene:9398 semapv:UnspecifiedMatching OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:PPARGC1A semapv:UnspecifiedMatching OMIM:604517 PPARGC1A skos:exactMatch ncbigene:10891 semapv:UnspecifiedMatching -OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching OMIM:604518 GRAP2 skos:exactMatch ncbigene:9402 semapv:UnspecifiedMatching -OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:TNFSF14 semapv:UnspecifiedMatching -OMIM:604521 HAAO skos:exactMatch ncbigene:23498 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching OMIM:604521 HAAO skos:exactMatch hgnc.symbol:HAAO semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch ncbigene:23498 semapv:UnspecifiedMatching OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:DEFA3 semapv:UnspecifiedMatching OMIM:604522 DEFA3 skos:exactMatch ncbigene:1668 semapv:UnspecifiedMatching OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:CELSR1 semapv:UnspecifiedMatching OMIM:604523 CELSR1 skos:exactMatch ncbigene:9620 semapv:UnspecifiedMatching -OMIM:604524 LY75 skos:exactMatch hgnc.symbol:LY75 semapv:UnspecifiedMatching OMIM:604524 LY75 skos:exactMatch ncbigene:4065 semapv:UnspecifiedMatching -OMIM:604525 HRH3 skos:exactMatch ncbigene:11255 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch hgnc.symbol:LY75 semapv:UnspecifiedMatching OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:HRH3 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:IDH3B semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch ncbigene:3420 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch ncbigene:11255 semapv:UnspecifiedMatching OMIM:604526 IDH3B skos:exactMatch UMLS:C1415879 semapv:UnspecifiedMatching OMIM:604526 IDH3B skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching -OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:KCNH3 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:IDH3B semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch ncbigene:3420 semapv:UnspecifiedMatching OMIM:604527 KCNH3 skos:exactMatch ncbigene:23416 semapv:UnspecifiedMatching -OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:KCNH4 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:KCNH3 semapv:UnspecifiedMatching OMIM:604528 KCNH4 skos:exactMatch ncbigene:23415 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:KCNH4 semapv:UnspecifiedMatching OMIM:604529 OTP skos:exactMatch UMLS:C1418198 semapv:UnspecifiedMatching OMIM:604529 OTP skos:exactMatch hgnc.symbol:OTP semapv:UnspecifiedMatching OMIM:604529 OTP skos:exactMatch ncbigene:23440 semapv:UnspecifiedMatching -OMIM:604530 NCR1 skos:exactMatch ncbigene:9437 semapv:UnspecifiedMatching OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:NCR1 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch ncbigene:9437 semapv:UnspecifiedMatching OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:NCR2 semapv:UnspecifiedMatching OMIM:604531 NCR2 skos:exactMatch ncbigene:9436 semapv:UnspecifiedMatching -OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:PKD2L1 semapv:UnspecifiedMatching OMIM:604532 PKD2L1 skos:exactMatch ncbigene:9033 semapv:UnspecifiedMatching -OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:ISG20 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:PKD2L1 semapv:UnspecifiedMatching OMIM:604533 ISG20 skos:exactMatch ncbigene:3669 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:ISG20 semapv:UnspecifiedMatching OMIM:604534 CD83 skos:exactMatch hgnc.symbol:CD83 semapv:UnspecifiedMatching OMIM:604534 CD83 skos:exactMatch ncbigene:9308 semapv:UnspecifiedMatching -OMIM:604535 KIFC3 skos:exactMatch ncbigene:3801 semapv:UnspecifiedMatching OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:KIFC3 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch ncbigene:3801 semapv:UnspecifiedMatching OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:KIF2C semapv:UnspecifiedMatching OMIM:604538 KIF2C skos:exactMatch ncbigene:11004 semapv:UnspecifiedMatching -OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:ADAMTS2 semapv:UnspecifiedMatching OMIM:604539 ADAMTS2 skos:exactMatch ncbigene:9509 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:ADAMTS2 semapv:UnspecifiedMatching OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:KRT36 semapv:UnspecifiedMatching OMIM:604540 KRT36 skos:exactMatch ncbigene:8689 semapv:UnspecifiedMatching -OMIM:604541 KRT37 skos:exactMatch ncbigene:8688 semapv:UnspecifiedMatching OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:KRT37 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch ncbigene:8688 semapv:UnspecifiedMatching OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:KRT38 semapv:UnspecifiedMatching OMIM:604542 KRT38 skos:exactMatch ncbigene:8687 semapv:UnspecifiedMatching OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:LIMD1 semapv:UnspecifiedMatching OMIM:604543 LIMD1 skos:exactMatch ncbigene:8994 semapv:UnspecifiedMatching -OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:LARS2 semapv:UnspecifiedMatching OMIM:604544 LARS2 skos:exactMatch ncbigene:23395 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:LARS2 semapv:UnspecifiedMatching OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:KPNA5 semapv:UnspecifiedMatching OMIM:604545 KPNA5 skos:exactMatch ncbigene:3841 semapv:UnspecifiedMatching -OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching OMIM:604546 TONSL skos:exactMatch hgnc.symbol:TONSL semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch ncbigene:4794 semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch UMLS:C1417710 semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch ncbigene:4794 semapv:UnspecifiedMatching OMIM:604550 DENR skos:exactMatch hgnc.symbol:DENR semapv:UnspecifiedMatching OMIM:604550 DENR skos:exactMatch ncbigene:8562 semapv:UnspecifiedMatching -OMIM:604551 CH25H skos:exactMatch hgnc.symbol:CH25H semapv:UnspecifiedMatching OMIM:604551 CH25H skos:exactMatch ncbigene:9023 semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch hgnc.symbol:CH25H semapv:UnspecifiedMatching OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:HGFAC semapv:UnspecifiedMatching OMIM:604552 HGFAC skos:exactMatch ncbigene:3083 semapv:UnspecifiedMatching OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:HSBP1 semapv:UnspecifiedMatching OMIM:604553 HSBP1 skos:exactMatch ncbigene:3281 semapv:UnspecifiedMatching -OMIM:604554 HSF2BP skos:exactMatch ncbigene:11077 semapv:UnspecifiedMatching OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:HSF2BP semapv:UnspecifiedMatching -OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:CDH10 semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch ncbigene:11077 semapv:UnspecifiedMatching OMIM:604555 CDH10 skos:exactMatch ncbigene:1008 semapv:UnspecifiedMatching -OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:DYRK1B semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:CDH10 semapv:UnspecifiedMatching OMIM:604556 DYRK1B skos:exactMatch ncbigene:9149 semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:DYRK1B semapv:UnspecifiedMatching OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:ZNF423 semapv:UnspecifiedMatching OMIM:604557 ZNF423 skos:exactMatch ncbigene:23090 semapv:UnspecifiedMatching OMIM:604558 ICOS skos:exactMatch hgnc.symbol:ICOS semapv:UnspecifiedMatching OMIM:604558 ICOS skos:exactMatch ncbigene:29851 semapv:UnspecifiedMatching -OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:MGAT4B semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:ACIN1 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch ncbigene:22985 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:MGST3 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch ncbigene:4259 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch ncbigene:29880 semapv:UnspecifiedMatching OMIM:604565 ALG5 skos:exactMatch UMLS:C1426822 semapv:UnspecifiedMatching OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:ALG5 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch ncbigene:29929 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch ncbigene:29880 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:ALG6 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch ncbigene:29929 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch UMLS:C1427953 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:DOC2A semapv:UnspecifiedMatching OMIM:604567 DOC2A skos:exactMatch ncbigene:8448 semapv:UnspecifiedMatching OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:DOC2B semapv:UnspecifiedMatching OMIM:604568 DOC2B skos:exactMatch ncbigene:8447 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:CNTNAP2 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch ncbigene:26047 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C4552043 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:CNTNAP2 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2677504 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C1422223 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:SHROOM3 semapv:UnspecifiedMatching OMIM:604570 SHROOM3 skos:exactMatch ncbigene:57619 semapv:UnspecifiedMatching OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:DNAJB1 semapv:UnspecifiedMatching OMIM:604572 DNAJB1 skos:exactMatch ncbigene:3337 semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch UMLS:C1412885 semapv:UnspecifiedMatching OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:ATP5MJ semapv:UnspecifiedMatching OMIM:604573 ATP5MPL skos:exactMatch ncbigene:9556 semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch UMLS:C1412885 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch UMLS:C1413032 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:FRRS1L semapv:UnspecifiedMatching OMIM:604574 FRRS1L skos:exactMatch ncbigene:23732 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:FRRS1L semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch UMLS:C1413032 semapv:UnspecifiedMatching OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:ZNHIT2 semapv:UnspecifiedMatching OMIM:604575 ZNHIT2 skos:exactMatch ncbigene:741 semapv:UnspecifiedMatching -OMIM:604576 ERG28 skos:exactMatch ncbigene:11161 semapv:UnspecifiedMatching OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:ERG28 semapv:UnspecifiedMatching -OMIM:604577 BVES skos:exactMatch ncbigene:11149 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch ncbigene:11161 semapv:UnspecifiedMatching OMIM:604577 BVES skos:exactMatch hgnc.symbol:BVES semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch ncbigene:11149 semapv:UnspecifiedMatching OMIM:604578 AIM2 skos:exactMatch UMLS:C1332065 semapv:UnspecifiedMatching OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:AIM2 semapv:UnspecifiedMatching OMIM:604578 AIM2 skos:exactMatch ncbigene:9447 semapv:UnspecifiedMatching @@ -17916,8 +17920,8 @@ OMIM:604579 FZD4 skos:exactMatch ncbigene:8322 semapv:UnspecifiedMatching OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:FBLN5 semapv:UnspecifiedMatching OMIM:604580 FBLN5 skos:exactMatch ncbigene:10516 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch ncbigene:10939 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:AFG3L2 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:AFG3L2 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1412274 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching @@ -17929,51 +17933,51 @@ OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:PDGFRL semapv:UnspecifiedMatching OMIM:604584 PDGFRL skos:exactMatch ncbigene:5157 semapv:UnspecifiedMatching OMIM:604585 SP100 skos:exactMatch ncbigene:6672 semapv:UnspecifiedMatching OMIM:604585 SP100 skos:exactMatch hgnc.symbol:SP100 semapv:UnspecifiedMatching -OMIM:604586 STXBP5 skos:exactMatch ncbigene:134957 semapv:UnspecifiedMatching OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:STXBP5 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch ncbigene:134957 semapv:UnspecifiedMatching OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:CALCOCO2 semapv:UnspecifiedMatching OMIM:604587 CALCOCO2 skos:exactMatch ncbigene:10241 semapv:UnspecifiedMatching OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:NEK1 semapv:UnspecifiedMatching OMIM:604588 NEK1 skos:exactMatch ncbigene:4750 semapv:UnspecifiedMatching OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:BRD1 semapv:UnspecifiedMatching OMIM:604589 BRD1 skos:exactMatch ncbigene:23774 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch ncbigene:2213 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:FCGR2B semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C1414554 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:PEBP1 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch ncbigene:2213 semapv:UnspecifiedMatching OMIM:604591 PEBP1 skos:exactMatch ncbigene:5037 semapv:UnspecifiedMatching -OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:TCIRG1 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:PEBP1 semapv:UnspecifiedMatching OMIM:604592 TCIRG1 skos:exactMatch ncbigene:10312 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:TCIRG1 semapv:UnspecifiedMatching OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:KIF5C semapv:UnspecifiedMatching OMIM:604593 KIF5C skos:exactMatch ncbigene:3800 semapv:UnspecifiedMatching -OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:CRIPT semapv:UnspecifiedMatching -OMIM:604596 CDRT1 skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching OMIM:604596 CDRT1 skos:exactMatch hgnc.symbol:FBXW10B semapv:UnspecifiedMatching +OMIM:604596 CDRT1 skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:GRIP1 semapv:UnspecifiedMatching OMIM:604597 GRIP1 skos:exactMatch ncbigene:23426 semapv:UnspecifiedMatching -OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:OSGIN2 semapv:UnspecifiedMatching OMIM:604598 OSGIN2 skos:exactMatch ncbigene:734 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:OSGIN2 semapv:UnspecifiedMatching OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:EHMT2 semapv:UnspecifiedMatching OMIM:604599 EHMT2 skos:exactMatch ncbigene:10919 semapv:UnspecifiedMatching OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:TRPM5 semapv:UnspecifiedMatching OMIM:604600 TRPM5 skos:exactMatch ncbigene:29850 semapv:UnspecifiedMatching -OMIM:604601 MTRF1 skos:exactMatch ncbigene:9617 semapv:UnspecifiedMatching OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:MTRF1 semapv:UnspecifiedMatching -OMIM:604602 MRRF skos:exactMatch hgnc.symbol:MRRF semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch ncbigene:9617 semapv:UnspecifiedMatching OMIM:604602 MRRF skos:exactMatch ncbigene:92399 semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch hgnc.symbol:MRRF semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch ncbigene:26509 semapv:UnspecifiedMatching OMIM:604603 MYOF skos:exactMatch UMLS:C1414587 semapv:UnspecifiedMatching OMIM:604603 MYOF skos:exactMatch hgnc.symbol:MYOF semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch ncbigene:26509 semapv:UnspecifiedMatching OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:SLC30A9 semapv:UnspecifiedMatching OMIM:604604 SLC30A9 skos:exactMatch ncbigene:10463 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch ncbigene:8997 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch hgnc.symbol:KALRN semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:604605 KALRN skos:exactMatch UMLS:C1537432 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch hgnc.symbol:KALRN semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch ncbigene:8997 semapv:UnspecifiedMatching OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:OBP2B semapv:UnspecifiedMatching OMIM:604606 OBP2B skos:exactMatch ncbigene:29989 semapv:UnspecifiedMatching OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:HOXB13 semapv:UnspecifiedMatching @@ -17982,161 +17986,161 @@ OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:MUC12 semapv:UnspecifiedMatching OMIM:604609 MUC12 skos:exactMatch ncbigene:10071 semapv:UnspecifiedMatching OMIM:604610 RECQL3 skos:exactMatch ncbigene:641 semapv:UnspecifiedMatching OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:BLM semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch UMLS:C1337007 semapv:UnspecifiedMatching OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:WRN semapv:UnspecifiedMatching OMIM:604611 RECQL2 skos:exactMatch ncbigene:7486 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch UMLS:C1337007 semapv:UnspecifiedMatching OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:NKX2-2 semapv:UnspecifiedMatching OMIM:604612 NKX2-2 skos:exactMatch ncbigene:4821 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:TBX18 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch ncbigene:9096 semapv:UnspecifiedMatching OMIM:604613 TBX18 skos:exactMatch UMLS:C0521619 semapv:UnspecifiedMatching OMIM:604613 TBX18 skos:exactMatch UMLS:C1420606 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:TBX18 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch ncbigene:9096 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch ncbigene:9095 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:TBX19 semapv:UnspecifiedMatching OMIM:604614 TBX19 skos:exactMatch UMLS:C0271583 semapv:UnspecifiedMatching OMIM:604614 TBX19 skos:exactMatch UMLS:C1420607 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:TBX19 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch ncbigene:9095 semapv:UnspecifiedMatching OMIM:604615 EOMES skos:exactMatch UMLS:C1414420 semapv:UnspecifiedMatching OMIM:604615 EOMES skos:exactMatch hgnc.symbol:EOMES semapv:UnspecifiedMatching OMIM:604615 EOMES skos:exactMatch ncbigene:8320 semapv:UnspecifiedMatching -OMIM:604616 TBR1 skos:exactMatch ncbigene:10716 semapv:UnspecifiedMatching OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:TBR1 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch ncbigene:10716 semapv:UnspecifiedMatching OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:NEU3 semapv:UnspecifiedMatching OMIM:604617 NEU3 skos:exactMatch ncbigene:10825 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch UMLS:C1417732 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:NIT1 semapv:UnspecifiedMatching OMIM:604618 NIT1 skos:exactMatch ncbigene:4817 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:NIT1 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch UMLS:C1417732 semapv:UnspecifiedMatching OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:LGI1 semapv:UnspecifiedMatching OMIM:604619 LGI1 skos:exactMatch ncbigene:9211 semapv:UnspecifiedMatching OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:GPR65 semapv:UnspecifiedMatching OMIM:604620 GPR65 skos:exactMatch ncbigene:8477 semapv:UnspecifiedMatching OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:MGAT3 semapv:UnspecifiedMatching OMIM:604621 MGAT3 skos:exactMatch ncbigene:4248 semapv:UnspecifiedMatching -OMIM:604623 MGAT4A skos:exactMatch ncbigene:11320 semapv:UnspecifiedMatching OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:MGAT4A semapv:UnspecifiedMatching -OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:HSPB3 semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch ncbigene:11320 semapv:UnspecifiedMatching OMIM:604624 HSPB3 skos:exactMatch ncbigene:8988 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:HSPB3 semapv:UnspecifiedMatching OMIM:604626 ME3 skos:exactMatch hgnc.symbol:ME3 semapv:UnspecifiedMatching OMIM:604626 ME3 skos:exactMatch ncbigene:10873 semapv:UnspecifiedMatching OMIM:604627 IL17B skos:exactMatch hgnc.symbol:IL17B semapv:UnspecifiedMatching OMIM:604627 IL17B skos:exactMatch ncbigene:27190 semapv:UnspecifiedMatching OMIM:604628 IL17C skos:exactMatch hgnc.symbol:IL17C semapv:UnspecifiedMatching OMIM:604628 IL17C skos:exactMatch ncbigene:27189 semapv:UnspecifiedMatching -OMIM:604629 MMP20 skos:exactMatch ncbigene:9313 semapv:UnspecifiedMatching OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:MMP20 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch ncbigene:9313 semapv:UnspecifiedMatching OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:NR0B2 semapv:UnspecifiedMatching OMIM:604630 NR0B2 skos:exactMatch ncbigene:8431 semapv:UnspecifiedMatching -OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:VAT1 semapv:UnspecifiedMatching OMIM:604631 VAT1 skos:exactMatch ncbigene:10493 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:VAT1 semapv:UnspecifiedMatching OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:VAC14 semapv:UnspecifiedMatching OMIM:604632 VAC14 skos:exactMatch ncbigene:55697 semapv:UnspecifiedMatching OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:EFEMP2 semapv:UnspecifiedMatching OMIM:604633 EFEMP2 skos:exactMatch ncbigene:30008 semapv:UnspecifiedMatching -OMIM:604634 TAGLN2 skos:exactMatch ncbigene:8407 semapv:UnspecifiedMatching OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:TAGLN2 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch ncbigene:8407 semapv:UnspecifiedMatching OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:NXPH2 semapv:UnspecifiedMatching OMIM:604635 NXPH2 skos:exactMatch ncbigene:11249 semapv:UnspecifiedMatching -OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:NXPH3 semapv:UnspecifiedMatching OMIM:604636 NXPH3 skos:exactMatch ncbigene:11248 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:NXPH3 semapv:UnspecifiedMatching OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:NXPH4 semapv:UnspecifiedMatching OMIM:604637 NXPH4 skos:exactMatch ncbigene:11247 semapv:UnspecifiedMatching OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:ACTN4 semapv:UnspecifiedMatching OMIM:604638 ACTN4 skos:exactMatch ncbigene:81 semapv:UnspecifiedMatching -OMIM:604639 NXPH1 skos:exactMatch ncbigene:30010 semapv:UnspecifiedMatching OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:NXPH1 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch ncbigene:30010 semapv:UnspecifiedMatching OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:TLX3 semapv:UnspecifiedMatching OMIM:604640 TLX3 skos:exactMatch ncbigene:30012 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C1417024 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:MAPK8IP1 semapv:UnspecifiedMatching OMIM:604641 MAPK8IP1 skos:exactMatch ncbigene:9479 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:MAPK8IP1 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C1417024 semapv:UnspecifiedMatching OMIM:604642 CA10 skos:exactMatch hgnc.symbol:CA10 semapv:UnspecifiedMatching OMIM:604642 CA10 skos:exactMatch ncbigene:56934 semapv:UnspecifiedMatching -OMIM:604643 NPFF skos:exactMatch ncbigene:8620 semapv:UnspecifiedMatching OMIM:604643 NPFF skos:exactMatch hgnc.symbol:NPFF semapv:UnspecifiedMatching -OMIM:604644 CA11 skos:exactMatch ncbigene:770 semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch ncbigene:8620 semapv:UnspecifiedMatching OMIM:604644 CA11 skos:exactMatch hgnc.symbol:CA11 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch ncbigene:770 semapv:UnspecifiedMatching OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:PDE7B semapv:UnspecifiedMatching OMIM:604645 PDE7B skos:exactMatch ncbigene:27115 semapv:UnspecifiedMatching -OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:NUP50 semapv:UnspecifiedMatching OMIM:604646 NUP50 skos:exactMatch ncbigene:10762 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:NUP50 semapv:UnspecifiedMatching OMIM:604647 CALY skos:exactMatch hgnc.symbol:CALY semapv:UnspecifiedMatching OMIM:604647 CALY skos:exactMatch ncbigene:50632 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch UMLS:C1420604 semapv:UnspecifiedMatching OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:TBX10 semapv:UnspecifiedMatching OMIM:604648 TBX10 skos:exactMatch ncbigene:347853 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch UMLS:C1420604 semapv:UnspecifiedMatching OMIM:604649 TBCD skos:exactMatch hgnc.symbol:TBCD semapv:UnspecifiedMatching OMIM:604649 TBCD skos:exactMatch ncbigene:6904 semapv:UnspecifiedMatching -OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:IFIT3 semapv:UnspecifiedMatching OMIM:604650 IFIT3 skos:exactMatch ncbigene:3437 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:IFIT3 semapv:UnspecifiedMatching OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:GDF7 semapv:UnspecifiedMatching OMIM:604651 GDF7 skos:exactMatch ncbigene:151449 semapv:UnspecifiedMatching OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:TCF7L1 semapv:UnspecifiedMatching OMIM:604652 TCF7L1 skos:exactMatch ncbigene:83439 semapv:UnspecifiedMatching -OMIM:604653 SLC40A1 skos:exactMatch ncbigene:30061 semapv:UnspecifiedMatching OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:SLC40A1 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch ncbigene:30061 semapv:UnspecifiedMatching OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:HTR3B semapv:UnspecifiedMatching OMIM:604654 HTR3B skos:exactMatch ncbigene:9177 semapv:UnspecifiedMatching -OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:MAP3K14 semapv:UnspecifiedMatching OMIM:604655 MAP3K14 skos:exactMatch ncbigene:9020 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:MAP3K14 semapv:UnspecifiedMatching OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:FMNL1 semapv:UnspecifiedMatching OMIM:604656 FMNL1 skos:exactMatch ncbigene:752 semapv:UnspecifiedMatching -OMIM:604657 TM4SF5 skos:exactMatch ncbigene:9032 semapv:UnspecifiedMatching OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:TM4SF5 semapv:UnspecifiedMatching -OMIM:604658 TM7SF1 skos:exactMatch ncbigene:7107 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch ncbigene:9032 semapv:UnspecifiedMatching OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:GPR137B semapv:UnspecifiedMatching -OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:ERVW-1 semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch ncbigene:7107 semapv:UnspecifiedMatching OMIM:604659 ERVW1 skos:exactMatch ncbigene:30816 semapv:UnspecifiedMatching -OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:KCNIP1 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:ERVW-1 semapv:UnspecifiedMatching OMIM:604660 KCNIP1 skos:exactMatch ncbigene:30820 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:KCNIP1 semapv:UnspecifiedMatching OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:KCNIP2 semapv:UnspecifiedMatching OMIM:604661 KCNIP2 skos:exactMatch ncbigene:30819 semapv:UnspecifiedMatching OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:KCNIP3 semapv:UnspecifiedMatching OMIM:604662 KCNIP3 skos:exactMatch ncbigene:30818 semapv:UnspecifiedMatching -OMIM:604663 WNT6 skos:exactMatch ncbigene:7475 semapv:UnspecifiedMatching OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:WNT6 semapv:UnspecifiedMatching -OMIM:604664 IFI30 skos:exactMatch ncbigene:10437 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch ncbigene:7475 semapv:UnspecifiedMatching OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:IFI30 semapv:UnspecifiedMatching -OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:COPS3 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch ncbigene:10437 semapv:UnspecifiedMatching OMIM:604665 COPS3 skos:exactMatch ncbigene:8533 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:COPS3 semapv:UnspecifiedMatching OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:MAP4K4 semapv:UnspecifiedMatching OMIM:604666 MAP4K4 skos:exactMatch ncbigene:9448 semapv:UnspecifiedMatching OMIM:604667 CADPS skos:exactMatch hgnc.symbol:CADPS semapv:UnspecifiedMatching OMIM:604667 CADPS skos:exactMatch ncbigene:8618 semapv:UnspecifiedMatching OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:ZNF264 semapv:UnspecifiedMatching OMIM:604668 ZNF264 skos:exactMatch ncbigene:9422 semapv:UnspecifiedMatching -OMIM:604669 PKD2L2 skos:exactMatch ncbigene:27039 semapv:UnspecifiedMatching OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:PKD2L2 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch ncbigene:27039 semapv:UnspecifiedMatching OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:PKDREJ semapv:UnspecifiedMatching OMIM:604670 PKDREJ skos:exactMatch ncbigene:10343 semapv:UnspecifiedMatching -OMIM:604671 JTB skos:exactMatch hgnc.symbol:JTB semapv:UnspecifiedMatching OMIM:604671 JTB skos:exactMatch ncbigene:10899 semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch hgnc.symbol:JTB semapv:UnspecifiedMatching OMIM:604672 CD209 skos:exactMatch hgnc.symbol:CD209 semapv:UnspecifiedMatching OMIM:604672 CD209 skos:exactMatch ncbigene:30835 semapv:UnspecifiedMatching -OMIM:604673 IRAG1 skos:exactMatch ncbigene:10335 semapv:UnspecifiedMatching OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:IRAG1 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch ncbigene:10335 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch UMLS:C1415525 semapv:UnspecifiedMatching OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:HEY2 semapv:UnspecifiedMatching OMIM:604674 HEY2 skos:exactMatch ncbigene:23493 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch UMLS:C1415525 semapv:UnspecifiedMatching -OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:PRRX2 semapv:UnspecifiedMatching OMIM:604675 PRRX2 skos:exactMatch ncbigene:51450 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:PRRX2 semapv:UnspecifiedMatching OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:HCP5 semapv:UnspecifiedMatching OMIM:604676 HCP5 skos:exactMatch ncbigene:10866 semapv:UnspecifiedMatching OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:CERT1 semapv:UnspecifiedMatching OMIM:604677 CERT1 skos:exactMatch ncbigene:10087 semapv:UnspecifiedMatching -OMIM:604678 TM9SF2 skos:exactMatch ncbigene:9375 semapv:UnspecifiedMatching OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:TM9SF2 semapv:UnspecifiedMatching -OMIM:604679 PABPC1 skos:exactMatch ncbigene:26986 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch ncbigene:9375 semapv:UnspecifiedMatching OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:PABPC1 semapv:UnspecifiedMatching -OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:PABPC3 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch ncbigene:26986 semapv:UnspecifiedMatching OMIM:604680 PABPC3 skos:exactMatch ncbigene:5042 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:PABPC3 semapv:UnspecifiedMatching OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:ITGAE semapv:UnspecifiedMatching OMIM:604682 ITGAE skos:exactMatch ncbigene:3682 semapv:UnspecifiedMatching -OMIM:604683 KIF3A skos:exactMatch ncbigene:11127 semapv:UnspecifiedMatching OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:KIF3A semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch ncbigene:11127 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch UMLS:C1826257 semapv:UnspecifiedMatching OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:MLLT11 semapv:UnspecifiedMatching OMIM:604684 MLLT11 skos:exactMatch ncbigene:10962 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch UMLS:C1826257 semapv:UnspecifiedMatching OMIM:604685 HOXA2 skos:exactMatch ncbigene:3199 semapv:UnspecifiedMatching OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:HOXA2 semapv:UnspecifiedMatching OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:AKAP13 semapv:UnspecifiedMatching @@ -18147,21 +18151,21 @@ OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:AKAP5 semapv:UnspecifiedMatching OMIM:604688 AKAP5 skos:exactMatch ncbigene:9495 semapv:UnspecifiedMatching OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:AKAP3 semapv:UnspecifiedMatching OMIM:604689 AKAP3 skos:exactMatch ncbigene:10566 semapv:UnspecifiedMatching -OMIM:604691 AKAP6 skos:exactMatch ncbigene:9472 semapv:UnspecifiedMatching OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:AKAP6 semapv:UnspecifiedMatching -OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:AKAP8 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch ncbigene:9472 semapv:UnspecifiedMatching OMIM:604692 AKAP8 skos:exactMatch ncbigene:10270 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:AKAP8 semapv:UnspecifiedMatching OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:AKAP7 semapv:UnspecifiedMatching OMIM:604693 AKAP7 skos:exactMatch ncbigene:9465 semapv:UnspecifiedMatching OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:AKAP10 semapv:UnspecifiedMatching OMIM:604694 AKAP10 skos:exactMatch ncbigene:11216 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch ncbigene:403 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:ARL3 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch UMLS:C1412538 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching -OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:AKAP11 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:ARL3 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch ncbigene:403 semapv:UnspecifiedMatching OMIM:604696 AKAP11 skos:exactMatch ncbigene:11215 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:AKAP11 semapv:UnspecifiedMatching OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:CCL26 semapv:UnspecifiedMatching OMIM:604697 CCL26 skos:exactMatch ncbigene:10344 semapv:UnspecifiedMatching OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:AKAP12 semapv:UnspecifiedMatching @@ -18170,16 +18174,16 @@ OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:ARFRP1 semapv:UnspecifiedMatching OMIM:604699 ARFRP1 skos:exactMatch ncbigene:10139 semapv:UnspecifiedMatching OMIM:604700 TOM1 skos:exactMatch ncbigene:10043 semapv:UnspecifiedMatching OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:TOM1 semapv:UnspecifiedMatching -OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:TOM1L1 semapv:UnspecifiedMatching OMIM:604701 TOM1L1 skos:exactMatch ncbigene:10040 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:TOM1L1 semapv:UnspecifiedMatching OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:HMGXB4 semapv:UnspecifiedMatching OMIM:604702 HMGXB4 skos:exactMatch ncbigene:10042 semapv:UnspecifiedMatching OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:BCAR3 semapv:UnspecifiedMatching OMIM:604704 BCAR3 skos:exactMatch ncbigene:8412 semapv:UnspecifiedMatching -OMIM:604705 MERTK skos:exactMatch ncbigene:10461 semapv:UnspecifiedMatching OMIM:604705 MERTK skos:exactMatch hgnc.symbol:MERTK semapv:UnspecifiedMatching -OMIM:604707 AKR1B10 skos:exactMatch ncbigene:57016 semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch ncbigene:10461 semapv:UnspecifiedMatching OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:AKR1B10 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch ncbigene:57016 semapv:UnspecifiedMatching OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:NFAT5 semapv:UnspecifiedMatching OMIM:604708 NFAT5 skos:exactMatch ncbigene:10725 semapv:UnspecifiedMatching OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:TIAM2 semapv:UnspecifiedMatching @@ -18188,61 +18192,61 @@ OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:LTBP4 semapv:UnspecifiedMatching OMIM:604710 LTBP4 skos:exactMatch ncbigene:8425 semapv:UnspecifiedMatching OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:UBL3 semapv:UnspecifiedMatching OMIM:604711 UBL3 skos:exactMatch ncbigene:5412 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch ncbigene:50484 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:RRM2B semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch ncbigene:50484 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C1424883 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:CLEC11A semapv:UnspecifiedMatching OMIM:604713 CLEC11A skos:exactMatch ncbigene:6320 semapv:UnspecifiedMatching -OMIM:604714 TSPYL1 skos:exactMatch ncbigene:7259 semapv:UnspecifiedMatching OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:TSPYL1 semapv:UnspecifiedMatching -OMIM:604716 UGT2A1 skos:exactMatch ncbigene:10941 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch ncbigene:7259 semapv:UnspecifiedMatching OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:UGT2A1 semapv:UnspecifiedMatching -OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:TTF2 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch ncbigene:10941 semapv:UnspecifiedMatching OMIM:604718 TTF2 skos:exactMatch ncbigene:8458 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:TTF2 semapv:UnspecifiedMatching OMIM:604719 STK16 skos:exactMatch hgnc.symbol:STK16 semapv:UnspecifiedMatching OMIM:604719 STK16 skos:exactMatch ncbigene:8576 semapv:UnspecifiedMatching OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:TFR2 semapv:UnspecifiedMatching OMIM:604720 TFR2 skos:exactMatch ncbigene:7036 semapv:UnspecifiedMatching OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:SH2D3A semapv:UnspecifiedMatching OMIM:604721 SH2D3A skos:exactMatch ncbigene:10045 semapv:UnspecifiedMatching -OMIM:604722 SH2D3C skos:exactMatch ncbigene:10044 semapv:UnspecifiedMatching OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:SH2D3C semapv:UnspecifiedMatching -OMIM:604723 TSFM skos:exactMatch hgnc.symbol:TSFM semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch ncbigene:10044 semapv:UnspecifiedMatching OMIM:604723 TSFM skos:exactMatch ncbigene:10102 semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch hgnc.symbol:TSFM semapv:UnspecifiedMatching OMIM:604724 HPSE skos:exactMatch hgnc.symbol:HPSE semapv:UnspecifiedMatching OMIM:604724 HPSE skos:exactMatch ncbigene:10855 semapv:UnspecifiedMatching OMIM:604725 USP2 skos:exactMatch hgnc.symbol:USP2 semapv:UnspecifiedMatching OMIM:604725 USP2 skos:exactMatch ncbigene:9099 semapv:UnspecifiedMatching OMIM:604726 STK17A skos:exactMatch hgnc.symbol:STK17A semapv:UnspecifiedMatching OMIM:604726 STK17A skos:exactMatch ncbigene:9263 semapv:UnspecifiedMatching -OMIM:604727 STK17B skos:exactMatch ncbigene:9262 semapv:UnspecifiedMatching OMIM:604727 STK17B skos:exactMatch hgnc.symbol:STK17B semapv:UnspecifiedMatching -OMIM:604728 USP3 skos:exactMatch hgnc.symbol:USP3 semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch ncbigene:9262 semapv:UnspecifiedMatching OMIM:604728 USP3 skos:exactMatch ncbigene:9960 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch hgnc.symbol:USP3 semapv:UnspecifiedMatching OMIM:604729 USP21 skos:exactMatch hgnc.symbol:USP21 semapv:UnspecifiedMatching OMIM:604729 USP21 skos:exactMatch ncbigene:27005 semapv:UnspecifiedMatching OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:TULP3 semapv:UnspecifiedMatching OMIM:604730 TULP3 skos:exactMatch ncbigene:7289 semapv:UnspecifiedMatching OMIM:604731 USP15 skos:exactMatch hgnc.symbol:USP15 semapv:UnspecifiedMatching OMIM:604731 USP15 skos:exactMatch ncbigene:9958 semapv:UnspecifiedMatching -OMIM:604732 TFEC skos:exactMatch ncbigene:22797 semapv:UnspecifiedMatching OMIM:604732 TFEC skos:exactMatch hgnc.symbol:TFEC semapv:UnspecifiedMatching -OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:WARS2 semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch ncbigene:22797 semapv:UnspecifiedMatching OMIM:604733 WARS2 skos:exactMatch ncbigene:10352 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:WARS2 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch UMLS:C1421493 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:WDR1 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch ncbigene:9948 semapv:UnspecifiedMatching OMIM:604735 USP16 skos:exactMatch hgnc.symbol:USP16 semapv:UnspecifiedMatching OMIM:604735 USP16 skos:exactMatch ncbigene:10600 semapv:UnspecifiedMatching -OMIM:604736 USP25 skos:exactMatch ncbigene:29761 semapv:UnspecifiedMatching OMIM:604736 USP25 skos:exactMatch hgnc.symbol:USP25 semapv:UnspecifiedMatching -OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:WDR3 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch ncbigene:29761 semapv:UnspecifiedMatching OMIM:604737 WDR3 skos:exactMatch ncbigene:10885 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:WDR3 semapv:UnspecifiedMatching OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:CCR9 semapv:UnspecifiedMatching OMIM:604738 CCR9 skos:exactMatch ncbigene:10803 semapv:UnspecifiedMatching OMIM:604739 RBM39 skos:exactMatch UMLS:C1826781 semapv:UnspecifiedMatching @@ -18252,26 +18256,26 @@ OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:SLC39A1 semapv:UnspecifiedMatchi OMIM:604740 SLC39A1 skos:exactMatch ncbigene:27173 semapv:UnspecifiedMatching OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:AKR1D1 semapv:UnspecifiedMatching OMIM:604741 AKR1D1 skos:exactMatch ncbigene:6718 semapv:UnspecifiedMatching -OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:DCLK1 semapv:UnspecifiedMatching OMIM:604742 DCLK1 skos:exactMatch ncbigene:9201 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:DCLK1 semapv:UnspecifiedMatching OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:DDAH1 semapv:UnspecifiedMatching OMIM:604743 DDAH1 skos:exactMatch ncbigene:23576 semapv:UnspecifiedMatching OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:DDAH2 semapv:UnspecifiedMatching OMIM:604744 DDAH2 skos:exactMatch ncbigene:23564 semapv:UnspecifiedMatching -OMIM:604745 TCFL5 skos:exactMatch ncbigene:10732 semapv:UnspecifiedMatching OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:TCFL5 semapv:UnspecifiedMatching -OMIM:604746 TESK2 skos:exactMatch ncbigene:10420 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch ncbigene:10732 semapv:UnspecifiedMatching OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:TESK2 semapv:UnspecifiedMatching -OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:SOX14 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch ncbigene:10420 semapv:UnspecifiedMatching OMIM:604747 SOX14 skos:exactMatch ncbigene:8403 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:SOX14 semapv:UnspecifiedMatching OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:SOX13 semapv:UnspecifiedMatching OMIM:604748 SOX13 skos:exactMatch ncbigene:9580 semapv:UnspecifiedMatching OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:ZNF235 semapv:UnspecifiedMatching OMIM:604749 ZNF235 skos:exactMatch ncbigene:9310 semapv:UnspecifiedMatching OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:ZNF234 semapv:UnspecifiedMatching OMIM:604750 ZNF234 skos:exactMatch ncbigene:10780 semapv:UnspecifiedMatching -OMIM:604751 ZNF266 skos:exactMatch ncbigene:10781 semapv:UnspecifiedMatching OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:ZNF266 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch ncbigene:10781 semapv:UnspecifiedMatching OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:ZNF267 semapv:UnspecifiedMatching OMIM:604752 ZNF267 skos:exactMatch ncbigene:10308 semapv:UnspecifiedMatching OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:ZNF268 semapv:UnspecifiedMatching @@ -18279,237 +18283,237 @@ OMIM:604753 ZNF268 skos:exactMatch ncbigene:10795 semapv:UnspecifiedMatching OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:ZNF271P semapv:UnspecifiedMatching OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:ZNF460 semapv:UnspecifiedMatching OMIM:604755 ZNF272 skos:exactMatch ncbigene:10794 semapv:UnspecifiedMatching -OMIM:604756 ZNF273 skos:exactMatch ncbigene:10793 semapv:UnspecifiedMatching OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:ZNF273 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch ncbigene:10793 semapv:UnspecifiedMatching OMIM:604758 RELB skos:exactMatch hgnc.symbol:RELB semapv:UnspecifiedMatching OMIM:604758 RELB skos:exactMatch ncbigene:5971 semapv:UnspecifiedMatching OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:SYCP3 semapv:UnspecifiedMatching OMIM:604759 SYCP3 skos:exactMatch ncbigene:50511 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch ncbigene:7776 semapv:UnspecifiedMatching OMIM:604760 ZNF236 skos:exactMatch UMLS:C1421723 semapv:UnspecifiedMatching OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:ZNF236 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch ncbigene:7776 semapv:UnspecifiedMatching -OMIM:604761 ZFAND5 skos:exactMatch ncbigene:7763 semapv:UnspecifiedMatching OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:ZFAND5 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch ncbigene:7763 semapv:UnspecifiedMatching OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:SWAP70 semapv:UnspecifiedMatching OMIM:604762 switch-associated protein 70 skos:exactMatch ncbigene:23075 semapv:UnspecifiedMatching OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:ARHGEF12 semapv:UnspecifiedMatching OMIM:604763 ARHGEF12 skos:exactMatch ncbigene:23365 semapv:UnspecifiedMatching -OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:ZHX1 semapv:UnspecifiedMatching OMIM:604764 ZHX1 skos:exactMatch ncbigene:11244 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:ZHX1 semapv:UnspecifiedMatching OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:NPHS2 semapv:UnspecifiedMatching OMIM:604766 NPHS2 skos:exactMatch ncbigene:7827 semapv:UnspecifiedMatching -OMIM:604767 DEC1 skos:exactMatch ncbigene:50514 semapv:UnspecifiedMatching OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:DELEC1 semapv:UnspecifiedMatching -OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:ZNF254 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch ncbigene:50514 semapv:UnspecifiedMatching OMIM:604768 ZNF254 skos:exactMatch ncbigene:9534 semapv:UnspecifiedMatching -OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:PRDX3 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:ZNF254 semapv:UnspecifiedMatching OMIM:604769 PRDX3 skos:exactMatch ncbigene:10935 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:PRDX3 semapv:UnspecifiedMatching OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:ACAA2 semapv:UnspecifiedMatching OMIM:604770 ACAA2 skos:exactMatch ncbigene:10449 semapv:UnspecifiedMatching OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching -OMIM:604773 ACAD8 skos:exactMatch ncbigene:27034 semapv:UnspecifiedMatching OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:ACAD8 semapv:UnspecifiedMatching -OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:ANGPTL3 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch ncbigene:27034 semapv:UnspecifiedMatching OMIM:604774 ANGPTL3 skos:exactMatch ncbigene:27329 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch UMLS:C1412407 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:ANGPTL3 semapv:UnspecifiedMatching OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:TRPA1 semapv:UnspecifiedMatching OMIM:604775 TRPA1 skos:exactMatch ncbigene:8989 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch UMLS:C1412407 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:HLA-DRB5 semapv:UnspecifiedMatching OMIM:604776 HLA-DRB5 skos:exactMatch ncbigene:3127 semapv:UnspecifiedMatching -OMIM:604778 ADAM29 skos:exactMatch ncbigene:11086 semapv:UnspecifiedMatching OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:ADAM29 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch ncbigene:11086 semapv:UnspecifiedMatching OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:ADAM30 semapv:UnspecifiedMatching OMIM:604779 ADAM30 skos:exactMatch ncbigene:11085 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching OMIM:604780 ABHD5 skos:exactMatch UMLS:C1427541 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:ABHD5 semapv:UnspecifiedMatching OMIM:604780 ABHD5 skos:exactMatch ncbigene:51099 semapv:UnspecifiedMatching -OMIM:604782 ASH2L skos:exactMatch ncbigene:9070 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:ABHD5 semapv:UnspecifiedMatching OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:ASH2L semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch ncbigene:9070 semapv:UnspecifiedMatching OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:CLPTM1 semapv:UnspecifiedMatching OMIM:604783 CLPTM1 skos:exactMatch ncbigene:1209 semapv:UnspecifiedMatching OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:TCEA2 semapv:UnspecifiedMatching OMIM:604784 TCEA2 skos:exactMatch ncbigene:6919 semapv:UnspecifiedMatching -OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:CTNNAL1 semapv:UnspecifiedMatching OMIM:604785 CTNNAL1 skos:exactMatch ncbigene:8727 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:CTNNAL1 semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch ncbigene:10124 semapv:UnspecifiedMatching OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:ARL4A semapv:UnspecifiedMatching OMIM:604786 ARL4A skos:exactMatch UMLS:C1538929 semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch ncbigene:10124 semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:ARL4C semapv:UnspecifiedMatching OMIM:604787 ARL4C skos:exactMatch UMLS:C1824201 semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:ARL4C semapv:UnspecifiedMatching OMIM:604787 ARL4C skos:exactMatch ncbigene:10123 semapv:UnspecifiedMatching -OMIM:604788 RUVBL2 skos:exactMatch ncbigene:10856 semapv:UnspecifiedMatching OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:RUVBL2 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch ncbigene:10856 semapv:UnspecifiedMatching OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:ITGA11 semapv:UnspecifiedMatching OMIM:604789 ITGA11 skos:exactMatch ncbigene:22801 semapv:UnspecifiedMatching OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:TAS2R14 semapv:UnspecifiedMatching OMIM:604790 TAS2R14 skos:exactMatch ncbigene:50840 semapv:UnspecifiedMatching -OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:TAS2R10 semapv:UnspecifiedMatching OMIM:604791 TAS2R10 skos:exactMatch ncbigene:50839 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:TAS2R10 semapv:UnspecifiedMatching OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:TAS2R13 semapv:UnspecifiedMatching OMIM:604792 TAS2R13 skos:exactMatch ncbigene:50838 semapv:UnspecifiedMatching -OMIM:604793 TAS2R7 skos:exactMatch ncbigene:50837 semapv:UnspecifiedMatching OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:TAS2R7 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch ncbigene:50837 semapv:UnspecifiedMatching OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:TAS2R8 semapv:UnspecifiedMatching OMIM:604794 TAS2R8 skos:exactMatch ncbigene:50836 semapv:UnspecifiedMatching -OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:TAS2R9 semapv:UnspecifiedMatching OMIM:604795 TAS2R9 skos:exactMatch ncbigene:50835 semapv:UnspecifiedMatching -OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:TAS2R1 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:TAS2R9 semapv:UnspecifiedMatching OMIM:604796 TAS2R1 skos:exactMatch ncbigene:50834 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:TAS2R1 semapv:UnspecifiedMatching OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:APOBEC2 semapv:UnspecifiedMatching OMIM:604797 APOBEC2 skos:exactMatch ncbigene:10930 semapv:UnspecifiedMatching -OMIM:604798 HOMER1 skos:exactMatch ncbigene:9456 semapv:UnspecifiedMatching OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:HOMER1 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch ncbigene:9456 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch UMLS:C1424987 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:HOMER2 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch ncbigene:9455 semapv:UnspecifiedMatching -OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching OMIM:604800 HOMER3 skos:exactMatch ncbigene:9454 semapv:UnspecifiedMatching -OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching OMIM:604802 huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch ncbigene:9980 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch UMLS:C1876213 semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch ncbigene:9980 semapv:UnspecifiedMatching OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:FLRT1 semapv:UnspecifiedMatching OMIM:604806 FLRT1 skos:exactMatch ncbigene:23769 semapv:UnspecifiedMatching -OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:FLRT2 semapv:UnspecifiedMatching OMIM:604807 FLRT2 skos:exactMatch ncbigene:23768 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:FLRT2 semapv:UnspecifiedMatching OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:FLRT3 semapv:UnspecifiedMatching OMIM:604808 FLRT3 skos:exactMatch ncbigene:23767 semapv:UnspecifiedMatching -OMIM:604810 LILRA1 skos:exactMatch ncbigene:11024 semapv:UnspecifiedMatching OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:LILRA1 semapv:UnspecifiedMatching -OMIM:604811 LILRB1 skos:exactMatch ncbigene:10859 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch ncbigene:11024 semapv:UnspecifiedMatching OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:LILRB1 semapv:UnspecifiedMatching -OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:LILRA2 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch ncbigene:10859 semapv:UnspecifiedMatching OMIM:604812 LILRA2 skos:exactMatch ncbigene:11027 semapv:UnspecifiedMatching -OMIM:604813 COX17 skos:exactMatch hgnc.symbol:COX17 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:LILRA2 semapv:UnspecifiedMatching OMIM:604813 COX17 skos:exactMatch ncbigene:10063 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch hgnc.symbol:COX17 semapv:UnspecifiedMatching OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:LILRB5 semapv:UnspecifiedMatching OMIM:604814 LILRB5 skos:exactMatch ncbigene:10990 semapv:UnspecifiedMatching OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:LILRB2 semapv:UnspecifiedMatching OMIM:604815 LILRB2 skos:exactMatch ncbigene:10288 semapv:UnspecifiedMatching -OMIM:604817 CHST5 skos:exactMatch ncbigene:23563 semapv:UnspecifiedMatching OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:CHST5 semapv:UnspecifiedMatching -OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:LILRA3 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch ncbigene:23563 semapv:UnspecifiedMatching OMIM:604818 LILRA3 skos:exactMatch ncbigene:11026 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch UMLS:C1858105 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:LILRA3 semapv:UnspecifiedMatching OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:PUF60 semapv:UnspecifiedMatching OMIM:604819 PUF60 skos:exactMatch ncbigene:22827 semapv:UnspecifiedMatching -OMIM:604820 LILRB3 skos:exactMatch ncbigene:11025 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch UMLS:C1858105 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:LILRB3 semapv:UnspecifiedMatching -OMIM:604821 LILRB4 skos:exactMatch ncbigene:11006 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch ncbigene:11025 semapv:UnspecifiedMatching OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:LILRB4 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch ncbigene:11006 semapv:UnspecifiedMatching OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:CAPN11 semapv:UnspecifiedMatching OMIM:604822 CAPN11 skos:exactMatch ncbigene:11131 semapv:UnspecifiedMatching OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:BARX2 semapv:UnspecifiedMatching OMIM:604823 BARX2 skos:exactMatch ncbigene:8538 semapv:UnspecifiedMatching -OMIM:604824 KL skos:exactMatch hgnc.symbol:KL semapv:UnspecifiedMatching OMIM:604824 KL skos:exactMatch ncbigene:9365 semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch hgnc.symbol:KL semapv:UnspecifiedMatching OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:FEZ1 semapv:UnspecifiedMatching OMIM:604825 FEZ1 skos:exactMatch ncbigene:9638 semapv:UnspecifiedMatching -OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:FEZ2 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:XCL2 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch ncbigene:6846 semapv:UnspecifiedMatching OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:DSCR4 semapv:UnspecifiedMatching OMIM:604829 DSCR4 skos:exactMatch ncbigene:10281 semapv:UnspecifiedMatching -OMIM:604831 EVC skos:exactMatch hgnc.symbol:EVC semapv:UnspecifiedMatching OMIM:604831 EVC skos:exactMatch ncbigene:2121 semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch hgnc.symbol:EVC semapv:UnspecifiedMatching OMIM:604832 CA14 skos:exactMatch hgnc.symbol:CA14 semapv:UnspecifiedMatching OMIM:604832 CA14 skos:exactMatch ncbigene:23632 semapv:UnspecifiedMatching OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:CCL27 semapv:UnspecifiedMatching OMIM:604833 CCL27 skos:exactMatch ncbigene:10850 semapv:UnspecifiedMatching -OMIM:604834 TBK1 skos:exactMatch ncbigene:29110 semapv:UnspecifiedMatching OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:TBK1 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch ncbigene:29110 semapv:UnspecifiedMatching OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:DUSP12 semapv:UnspecifiedMatching OMIM:604835 DUSP12 skos:exactMatch ncbigene:11266 semapv:UnspecifiedMatching -OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:CCR4 semapv:UnspecifiedMatching OMIM:604836 CCR4 skos:exactMatch ncbigene:1233 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:CCR4 semapv:UnspecifiedMatching OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:PTGDR2 semapv:UnspecifiedMatching OMIM:604837 PTGDR2 skos:exactMatch ncbigene:11251 semapv:UnspecifiedMatching OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:GPR45 semapv:UnspecifiedMatching OMIM:604838 GPR45 skos:exactMatch ncbigene:11250 semapv:UnspecifiedMatching -OMIM:604839 FKBP6 skos:exactMatch ncbigene:8468 semapv:UnspecifiedMatching OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:FKBP6 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch ncbigene:8468 semapv:UnspecifiedMatching OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:FKBP8 semapv:UnspecifiedMatching OMIM:604840 FKBP8 skos:exactMatch ncbigene:23770 semapv:UnspecifiedMatching OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:SLC22A3 semapv:UnspecifiedMatching OMIM:604842 SLC22A3 skos:exactMatch ncbigene:6581 semapv:UnspecifiedMatching -OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:SLCO1B1 semapv:UnspecifiedMatching OMIM:604843 SLCO1B1 skos:exactMatch ncbigene:10599 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:SLCO1B1 semapv:UnspecifiedMatching OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:HS2ST1 semapv:UnspecifiedMatching OMIM:604844 HS2ST1 skos:exactMatch ncbigene:9653 semapv:UnspecifiedMatching -OMIM:604845 PCA3 skos:exactMatch ncbigene:50652 semapv:UnspecifiedMatching OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:PCA3 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch ncbigene:50652 semapv:UnspecifiedMatching OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:HS6ST1 semapv:UnspecifiedMatching OMIM:604846 HS6ST1 skos:exactMatch ncbigene:9394 semapv:UnspecifiedMatching OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:GPR26 semapv:UnspecifiedMatching OMIM:604847 GPR26 skos:exactMatch ncbigene:2849 semapv:UnspecifiedMatching -OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:TAAR2 semapv:UnspecifiedMatching OMIM:604849 TAAR2 skos:exactMatch ncbigene:9287 semapv:UnspecifiedMatching -OMIM:604850 COPS5 skos:exactMatch ncbigene:10987 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:TAAR2 semapv:UnspecifiedMatching OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:COPS5 semapv:UnspecifiedMatching -OMIM:604851 GRSF1 skos:exactMatch ncbigene:2926 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch ncbigene:10987 semapv:UnspecifiedMatching OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:GRSF1 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch ncbigene:2926 semapv:UnspecifiedMatching OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:CXCL11 semapv:UnspecifiedMatching OMIM:604852 CXCL11 skos:exactMatch ncbigene:6373 semapv:UnspecifiedMatching OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:MRPL28 semapv:UnspecifiedMatching OMIM:604853 MRPL28 skos:exactMatch ncbigene:10573 semapv:UnspecifiedMatching OMIM:604854 INMT skos:exactMatch ncbigene:11185 semapv:UnspecifiedMatching OMIM:604854 INMT skos:exactMatch hgnc.symbol:INMT semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:SRP54 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch ncbigene:6729 semapv:UnspecifiedMatching OMIM:604857 SRP54 skos:exactMatch UMLS:C1420408 semapv:UnspecifiedMatching OMIM:604857 SRP54 skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching -OMIM:604858 SRP68 skos:exactMatch ncbigene:6730 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:SRP54 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch ncbigene:6729 semapv:UnspecifiedMatching OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:SRP68 semapv:UnspecifiedMatching -OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:LMCD1 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch ncbigene:6730 semapv:UnspecifiedMatching OMIM:604859 LMCD1 skos:exactMatch ncbigene:29995 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch UMLS:C1416991 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:MALT1 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:LMCD1 semapv:UnspecifiedMatching OMIM:604860 MALT1 skos:exactMatch ncbigene:10892 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:MALT1 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch UMLS:C1416991 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch UMLS:C1334331 semapv:UnspecifiedMatching OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:LATS2 semapv:UnspecifiedMatching OMIM:604861 LATS2 skos:exactMatch ncbigene:26524 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch UMLS:C1334331 semapv:UnspecifiedMatching OMIM:604862 CD207 skos:exactMatch hgnc.symbol:CD207 semapv:UnspecifiedMatching OMIM:604862 CD207 skos:exactMatch ncbigene:50489 semapv:UnspecifiedMatching -OMIM:604863 LRAT skos:exactMatch hgnc.symbol:LRAT semapv:UnspecifiedMatching OMIM:604863 LRAT skos:exactMatch ncbigene:9227 semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch hgnc.symbol:LRAT semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch ncbigene:8609 semapv:UnspecifiedMatching OMIM:604865 KLF7 skos:exactMatch UMLS:C1416662 semapv:UnspecifiedMatching OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:KLF7 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch ncbigene:8609 semapv:UnspecifiedMatching OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:PLAGL2 semapv:UnspecifiedMatching OMIM:604866 PLAGL2 skos:exactMatch ncbigene:5326 semapv:UnspecifiedMatching -OMIM:604867 TAS2R16 skos:exactMatch ncbigene:50833 semapv:UnspecifiedMatching OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:TAS2R16 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch ncbigene:50833 semapv:UnspecifiedMatching OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:TAS2R3 semapv:UnspecifiedMatching OMIM:604868 TAS2R3 skos:exactMatch ncbigene:50831 semapv:UnspecifiedMatching OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:TAS2R4 semapv:UnspecifiedMatching OMIM:604869 TAS2R4 skos:exactMatch ncbigene:50832 semapv:UnspecifiedMatching -OMIM:604870 MARCO skos:exactMatch hgnc.symbol:MARCO semapv:UnspecifiedMatching OMIM:604870 MARCO skos:exactMatch ncbigene:8685 semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch hgnc.symbol:MARCO semapv:UnspecifiedMatching OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:MMP24 semapv:UnspecifiedMatching OMIM:604871 MMP24 skos:exactMatch ncbigene:10893 semapv:UnspecifiedMatching -OMIM:604872 PCSK7 skos:exactMatch ncbigene:9159 semapv:UnspecifiedMatching OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:PCSK7 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch ncbigene:9159 semapv:UnspecifiedMatching OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:MPZL2 semapv:UnspecifiedMatching OMIM:604873 MPZL2 skos:exactMatch ncbigene:10205 semapv:UnspecifiedMatching OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:KLRG1 semapv:UnspecifiedMatching OMIM:604874 KLRG1 skos:exactMatch ncbigene:10219 semapv:UnspecifiedMatching -OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:MYO9A semapv:UnspecifiedMatching OMIM:604875 MYO9A skos:exactMatch ncbigene:4649 semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:MYO9A semapv:UnspecifiedMatching OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:RCAN2 semapv:UnspecifiedMatching OMIM:604876 RCAN2 skos:exactMatch ncbigene:10231 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch ncbigene:23764 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch hgnc.symbol:MAFF semapv:UnspecifiedMatching OMIM:604877 MAFF skos:exactMatch UMLS:C1416967 semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch hgnc.symbol:MAFF semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch ncbigene:23764 semapv:UnspecifiedMatching OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:SLC12A6 semapv:UnspecifiedMatching OMIM:604878 SLC12A6 skos:exactMatch ncbigene:9990 semapv:UnspecifiedMatching OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:SLC12A7 semapv:UnspecifiedMatching @@ -18519,74 +18523,74 @@ OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:RPH3AL semapv:UnspecifiedMatching OMIM:604881 RPH3AL skos:exactMatch ncbigene:9501 semapv:UnspecifiedMatching OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:NEUROG3 semapv:UnspecifiedMatching OMIM:604882 NEUROG3 skos:exactMatch ncbigene:50674 semapv:UnspecifiedMatching -OMIM:604883 GTF3C2 skos:exactMatch ncbigene:2976 semapv:UnspecifiedMatching OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:GTF3C2 semapv:UnspecifiedMatching -OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:NEK6 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch ncbigene:2976 semapv:UnspecifiedMatching OMIM:604884 NEK6 skos:exactMatch ncbigene:10783 semapv:UnspecifiedMatching -OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:MYBBP1A semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:NEK6 semapv:UnspecifiedMatching OMIM:604885 MYBBP1A skos:exactMatch ncbigene:10514 semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:MYBBP1A semapv:UnspecifiedMatching OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:EMC8 semapv:UnspecifiedMatching OMIM:604886 EMC8 skos:exactMatch ncbigene:10328 semapv:UnspecifiedMatching OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:MTHFD2 semapv:UnspecifiedMatching OMIM:604887 MTHFD2 skos:exactMatch ncbigene:10797 semapv:UnspecifiedMatching -OMIM:604888 GTF3C3 skos:exactMatch ncbigene:9330 semapv:UnspecifiedMatching OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:GTF3C3 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch ncbigene:9330 semapv:UnspecifiedMatching OMIM:604889 NBEA skos:exactMatch hgnc.symbol:NBEA semapv:UnspecifiedMatching OMIM:604889 NBEA skos:exactMatch ncbigene:26960 semapv:UnspecifiedMatching -OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:GTF3C5 semapv:UnspecifiedMatching OMIM:604890 GTF3C5 skos:exactMatch ncbigene:9328 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:GTF3C5 semapv:UnspecifiedMatching OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:NCKAP1 semapv:UnspecifiedMatching OMIM:604891 NCKAP1 skos:exactMatch ncbigene:10787 semapv:UnspecifiedMatching -OMIM:604892 GTF3C4 skos:exactMatch ncbigene:9329 semapv:UnspecifiedMatching OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:GTF3C4 semapv:UnspecifiedMatching -OMIM:604893 AIRN skos:exactMatch ncbigene:100271873 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch ncbigene:9329 semapv:UnspecifiedMatching OMIM:604893 AIRN skos:exactMatch hgnc.symbol:AIRN semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch ncbigene:100271873 semapv:UnspecifiedMatching OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:ONECUT2 semapv:UnspecifiedMatching OMIM:604894 ONECUT2 skos:exactMatch ncbigene:9480 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch ncbigene:30009 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:TBX21 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch UMLS:C1420610 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch UMLS:C1858067 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch UMLS:C1876174 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch ncbigene:30009 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch hgnc.symbol:MKKS semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch ncbigene:8195 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C4016908 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch UMLS:C1858067 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch UMLS:C1420610 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C1417174 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching -OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:PFDN1 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C4016908 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch hgnc.symbol:MKKS semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch ncbigene:8195 semapv:UnspecifiedMatching OMIM:604897 PFDN1 skos:exactMatch ncbigene:5201 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:PFDN1 semapv:UnspecifiedMatching OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:PFDN4 semapv:UnspecifiedMatching OMIM:604898 PFDN4 skos:exactMatch ncbigene:5203 semapv:UnspecifiedMatching -OMIM:604899 PFDN5 skos:exactMatch ncbigene:5204 semapv:UnspecifiedMatching OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:PFDN5 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch ncbigene:5204 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch UMLS:C1414024 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch UMLS:C4014516 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:DGAT1 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch ncbigene:8694 semapv:UnspecifiedMatching -OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:BRF1 semapv:UnspecifiedMatching OMIM:604902 BRF1 skos:exactMatch ncbigene:2972 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:BRF1 semapv:UnspecifiedMatching OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:TAF1A semapv:UnspecifiedMatching OMIM:604903 TAF1A skos:exactMatch ncbigene:9015 semapv:UnspecifiedMatching -OMIM:604904 TAF1B skos:exactMatch ncbigene:9014 semapv:UnspecifiedMatching OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:TAF1B semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch ncbigene:9014 semapv:UnspecifiedMatching OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:TAF1C semapv:UnspecifiedMatching OMIM:604905 TAF1C skos:exactMatch ncbigene:9013 semapv:UnspecifiedMatching OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:TNFRSF13B semapv:UnspecifiedMatching OMIM:604907 TNFRSF13B skos:exactMatch ncbigene:23495 semapv:UnspecifiedMatching -OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:PPP4R1 semapv:UnspecifiedMatching OMIM:604908 PPP4R1 skos:exactMatch ncbigene:9989 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:PPP4R1 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch UMLS:C1417764 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:CNOT2 semapv:UnspecifiedMatching OMIM:604909 CNOT2 skos:exactMatch ncbigene:4848 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch UMLS:C1417764 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch UMLS:C1417765 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:CNOT3 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch ncbigene:4849 semapv:UnspecifiedMatching -OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:CNOT4 semapv:UnspecifiedMatching OMIM:604911 CNOT4 skos:exactMatch ncbigene:4850 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:CNOT4 semapv:UnspecifiedMatching OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:TAF2 semapv:UnspecifiedMatching OMIM:604912 TAF2 skos:exactMatch ncbigene:6873 semapv:UnspecifiedMatching OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:CNOT7 semapv:UnspecifiedMatching @@ -18595,15 +18599,15 @@ OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:JMJD6 semapv:UnspecifiedMatching OMIM:604914 JMJD6 skos:exactMatch ncbigene:23210 semapv:UnspecifiedMatching OMIM:604915 MAP3K13 skos:exactMatch ncbigene:9175 semapv:UnspecifiedMatching OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:MAP3K13 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch ncbigene:23019 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:CNOT1 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C1417763 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:CNOT1 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch ncbigene:23019 semapv:UnspecifiedMatching OMIM:604918 PCLO skos:exactMatch hgnc.symbol:PCLO semapv:UnspecifiedMatching OMIM:604918 PCLO skos:exactMatch ncbigene:27445 semapv:UnspecifiedMatching -OMIM:604921 MAP4K3 skos:exactMatch ncbigene:8491 semapv:UnspecifiedMatching OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:MAP4K3 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch ncbigene:8491 semapv:UnspecifiedMatching OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:MAP4K5 semapv:UnspecifiedMatching OMIM:604923 MAP4K5 skos:exactMatch ncbigene:11183 semapv:UnspecifiedMatching OMIM:604924 PHAX skos:exactMatch hgnc.symbol:PHAX semapv:UnspecifiedMatching @@ -18612,162 +18616,162 @@ OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:RABAC1 semapv:UnspecifiedMatching OMIM:604925 RABAC1 skos:exactMatch ncbigene:10567 semapv:UnspecifiedMatching OMIM:604927 CTDP1 skos:exactMatch ncbigene:9150 semapv:UnspecifiedMatching OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:CTDP1 semapv:UnspecifiedMatching -OMIM:604930 NCK2 skos:exactMatch ncbigene:8440 semapv:UnspecifiedMatching OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:NCK2 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch ncbigene:8440 semapv:UnspecifiedMatching OMIM:604932 PKIG skos:exactMatch hgnc.symbol:PKIG semapv:UnspecifiedMatching OMIM:604932 PKIG skos:exactMatch ncbigene:11142 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch ncbigene:4595 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:MUTYH semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C1417505 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:MUTYH semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch ncbigene:4595 semapv:UnspecifiedMatching -OMIM:604934 TBCE skos:exactMatch ncbigene:6905 semapv:UnspecifiedMatching OMIM:604934 TBCE skos:exactMatch hgnc.symbol:TBCE semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch ncbigene:6905 semapv:UnspecifiedMatching OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:DMRT2 semapv:UnspecifiedMatching OMIM:604935 DMRT2 skos:exactMatch ncbigene:10655 semapv:UnspecifiedMatching OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:KIR2DL1 semapv:UnspecifiedMatching OMIM:604936 KIR2DL1 skos:exactMatch ncbigene:3802 semapv:UnspecifiedMatching -OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:KIR2DL2 semapv:UnspecifiedMatching OMIM:604937 KIR2DL2 skos:exactMatch ncbigene:3803 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:KIR2DL2 semapv:UnspecifiedMatching OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:KIR2DL3 semapv:UnspecifiedMatching OMIM:604938 KIR2DL3 skos:exactMatch ncbigene:3804 semapv:UnspecifiedMatching -OMIM:604939 PLA2R1 skos:exactMatch ncbigene:22925 semapv:UnspecifiedMatching OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:PLA2R1 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch ncbigene:22925 semapv:UnspecifiedMatching OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:PPP2R2A semapv:UnspecifiedMatching OMIM:604941 PPP2R2A skos:exactMatch ncbigene:5520 semapv:UnspecifiedMatching -OMIM:604942 SNPH skos:exactMatch hgnc.symbol:SNPH semapv:UnspecifiedMatching OMIM:604942 SNPH skos:exactMatch ncbigene:9751 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:SLC26A5 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch hgnc.symbol:SNPH semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch ncbigene:375611 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:SLC26A5 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch UMLS:C1822756 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch UMLS:C3151230 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:PPP2R3A semapv:UnspecifiedMatching OMIM:604944 PPP2R3A skos:exactMatch ncbigene:5523 semapv:UnspecifiedMatching OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:KIR2DL4 semapv:UnspecifiedMatching OMIM:604945 KIR2DL4 skos:exactMatch ncbigene:3805 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch ncbigene:3811 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416652 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416654 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C4016912 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:KIR3DL1 semapv:UnspecifiedMatching -OMIM:604947 KIR3DL2 skos:exactMatch ncbigene:3812 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416654 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416652 semapv:UnspecifiedMatching OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:KIR3DL2 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch ncbigene:3812 semapv:UnspecifiedMatching OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:GADD45B semapv:UnspecifiedMatching OMIM:604948 GADD45B skos:exactMatch ncbigene:4616 semapv:UnspecifiedMatching OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:GADD45G semapv:UnspecifiedMatching OMIM:604949 GADD45G skos:exactMatch ncbigene:10912 semapv:UnspecifiedMatching OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:PHTF1 semapv:UnspecifiedMatching OMIM:604950 PHTF1 skos:exactMatch ncbigene:10745 semapv:UnspecifiedMatching -OMIM:604951 PGLS skos:exactMatch hgnc.symbol:PGLS semapv:UnspecifiedMatching OMIM:604951 PGLS skos:exactMatch ncbigene:25796 semapv:UnspecifiedMatching -OMIM:604952 KIR2DS1 skos:exactMatch ncbigene:3806 semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch hgnc.symbol:PGLS semapv:UnspecifiedMatching OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:KIR2DS1 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch ncbigene:3806 semapv:UnspecifiedMatching OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:KIR2DS2 semapv:UnspecifiedMatching OMIM:604953 KIR2DS2 skos:exactMatch ncbigene:100132285 semapv:UnspecifiedMatching OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:KIR2DS3 semapv:UnspecifiedMatching OMIM:604954 KIR2DS3 skos:exactMatch ncbigene:3808 semapv:UnspecifiedMatching OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:KIR2DS4 semapv:UnspecifiedMatching OMIM:604955 KIR2DS4 skos:exactMatch ncbigene:3809 semapv:UnspecifiedMatching -OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:KIR2DS5 semapv:UnspecifiedMatching OMIM:604956 KIR2DS5 skos:exactMatch ncbigene:3810 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:KIR2DS5 semapv:UnspecifiedMatching OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:ACTL6A semapv:UnspecifiedMatching OMIM:604958 ACTL6A skos:exactMatch ncbigene:86 semapv:UnspecifiedMatching -OMIM:604959 PMAIP1 skos:exactMatch ncbigene:5366 semapv:UnspecifiedMatching OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:PMAIP1 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch ncbigene:5366 semapv:UnspecifiedMatching OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:PACSIN2 semapv:UnspecifiedMatching OMIM:604960 PACSIN2 skos:exactMatch ncbigene:11252 semapv:UnspecifiedMatching OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:PDE11A semapv:UnspecifiedMatching OMIM:604961 PDE11A skos:exactMatch ncbigene:50940 semapv:UnspecifiedMatching -OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:TRAT1 semapv:UnspecifiedMatching OMIM:604962 TRAT1 skos:exactMatch ncbigene:50852 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:TRAT1 semapv:UnspecifiedMatching OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:PGLYRP1 semapv:UnspecifiedMatching OMIM:604963 PGLYRP1 skos:exactMatch ncbigene:8993 semapv:UnspecifiedMatching -OMIM:604964 SIT1 skos:exactMatch ncbigene:27240 semapv:UnspecifiedMatching OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:SIT1 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch ncbigene:27240 semapv:UnspecifiedMatching OMIM:604965 STK4 skos:exactMatch hgnc.symbol:STK4 semapv:UnspecifiedMatching OMIM:604965 STK4 skos:exactMatch ncbigene:6789 semapv:UnspecifiedMatching OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:PCDHA@ semapv:UnspecifiedMatching OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:PCDHB@ semapv:UnspecifiedMatching OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:PCDHG@ semapv:UnspecifiedMatching -OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:SKAP1 semapv:UnspecifiedMatching OMIM:604969 SKAP1 skos:exactMatch ncbigene:8631 semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:SKAP1 semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch UMLS:C1420464 semapv:UnspecifiedMatching OMIM:604970 AURKB skos:exactMatch hgnc.symbol:AURKB semapv:UnspecifiedMatching OMIM:604970 AURKB skos:exactMatch ncbigene:9212 semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch UMLS:C1420464 semapv:UnspecifiedMatching OMIM:604971 MDFI skos:exactMatch hgnc.symbol:MDFI semapv:UnspecifiedMatching OMIM:604971 MDFI skos:exactMatch ncbigene:4188 semapv:UnspecifiedMatching OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:ORC3 semapv:UnspecifiedMatching OMIM:604972 ORC3 skos:exactMatch ncbigene:23595 semapv:UnspecifiedMatching OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:FCN3 semapv:UnspecifiedMatching OMIM:604973 FCN3 skos:exactMatch ncbigene:8547 semapv:UnspecifiedMatching -OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:SOX21 semapv:UnspecifiedMatching OMIM:604974 SOX21 skos:exactMatch ncbigene:11166 semapv:UnspecifiedMatching -OMIM:604975 SOX5 skos:exactMatch ncbigene:6660 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:SOX21 semapv:UnspecifiedMatching OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:SOX5 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch ncbigene:6660 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch UMLS:C1418906 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:PRKAG3 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch ncbigene:53632 semapv:UnspecifiedMatching OMIM:604977 STK19 skos:exactMatch hgnc.symbol:STK19 semapv:UnspecifiedMatching OMIM:604977 STK19 skos:exactMatch ncbigene:8859 semapv:UnspecifiedMatching -OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:NUDT21 semapv:UnspecifiedMatching OMIM:604978 NUDT21 skos:exactMatch ncbigene:11051 semapv:UnspecifiedMatching -OMIM:604979 CPSF6 skos:exactMatch ncbigene:11052 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:NUDT21 semapv:UnspecifiedMatching OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:CPSF6 semapv:UnspecifiedMatching -OMIM:604980 RACGAP1 skos:exactMatch ncbigene:29127 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch ncbigene:11052 semapv:UnspecifiedMatching OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:RACGAP1 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch ncbigene:29127 semapv:UnspecifiedMatching OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:WBP4 semapv:UnspecifiedMatching OMIM:604981 WBP4 skos:exactMatch ncbigene:11193 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch UMLS:C1415707 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:HPS1 semapv:UnspecifiedMatching OMIM:604982 HPS1 skos:exactMatch ncbigene:3257 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch UMLS:C1415707 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:POLG2 semapv:UnspecifiedMatching OMIM:604983 POLG2 skos:exactMatch ncbigene:11232 semapv:UnspecifiedMatching -OMIM:604984 STK24 skos:exactMatch ncbigene:8428 semapv:UnspecifiedMatching OMIM:604984 STK24 skos:exactMatch hgnc.symbol:STK24 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch ncbigene:8428 semapv:UnspecifiedMatching OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:SPTBN2 semapv:UnspecifiedMatching OMIM:604985 SPTBN2 skos:exactMatch ncbigene:6712 semapv:UnspecifiedMatching -OMIM:604986 BRAP skos:exactMatch hgnc.symbol:BRAP semapv:UnspecifiedMatching OMIM:604986 BRAP skos:exactMatch ncbigene:8315 semapv:UnspecifiedMatching -OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:CLEC5A semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch hgnc.symbol:BRAP semapv:UnspecifiedMatching OMIM:604987 CLEC5A skos:exactMatch ncbigene:23601 semapv:UnspecifiedMatching -OMIM:604988 SLCO2B1 skos:exactMatch ncbigene:11309 semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:CLEC5A semapv:UnspecifiedMatching OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:SLCO2B1 semapv:UnspecifiedMatching -OMIM:604989 SPON1 skos:exactMatch ncbigene:10418 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch ncbigene:11309 semapv:UnspecifiedMatching OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:SPON1 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch ncbigene:10418 semapv:UnspecifiedMatching OMIM:604990 SLC9A3R1 skos:exactMatch hgnc.symbol:NHERF1 semapv:UnspecifiedMatching OMIM:604990 SLC9A3R1 skos:exactMatch ncbigene:9368 semapv:UnspecifiedMatching OMIM:604991 PART1 skos:exactMatch hgnc.symbol:PART1 semapv:UnspecifiedMatching OMIM:604991 PART1 skos:exactMatch ncbigene:25859 semapv:UnspecifiedMatching -OMIM:604992 SRL skos:exactMatch hgnc.symbol:SRL semapv:UnspecifiedMatching OMIM:604992 SRL skos:exactMatch ncbigene:6345 semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch hgnc.symbol:SRL semapv:UnspecifiedMatching OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:PRPF18 semapv:UnspecifiedMatching OMIM:604993 PRPF18 skos:exactMatch ncbigene:8559 semapv:UnspecifiedMatching -OMIM:604994 SIX2 skos:exactMatch ncbigene:10736 semapv:UnspecifiedMatching OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:SIX2 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch ncbigene:10736 semapv:UnspecifiedMatching OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:SLC22A7 semapv:UnspecifiedMatching OMIM:604995 SLC22A7 skos:exactMatch ncbigene:10864 semapv:UnspecifiedMatching OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:FXYD3 semapv:UnspecifiedMatching OMIM:604996 FXYD3 skos:exactMatch ncbigene:5349 semapv:UnspecifiedMatching -OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:DOK2 semapv:UnspecifiedMatching OMIM:604997 DOK2 skos:exactMatch ncbigene:9046 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:DOK2 semapv:UnspecifiedMatching OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:CAMK1 semapv:UnspecifiedMatching OMIM:604998 CAMK1 skos:exactMatch ncbigene:8536 semapv:UnspecifiedMatching OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:SHANK1 semapv:UnspecifiedMatching OMIM:604999 SHANK1 skos:exactMatch ncbigene:50944 semapv:UnspecifiedMatching -OMIM:605000 CORO1A skos:exactMatch ncbigene:11151 semapv:UnspecifiedMatching OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:CORO1A semapv:UnspecifiedMatching -OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:ANGPTL2 semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch ncbigene:11151 semapv:UnspecifiedMatching OMIM:605001 ANGPTL2 skos:exactMatch ncbigene:23452 semapv:UnspecifiedMatching -OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:CORO2B semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:ANGPTL2 semapv:UnspecifiedMatching OMIM:605002 CORO2B skos:exactMatch ncbigene:10391 semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:CORO2B semapv:UnspecifiedMatching OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:SENP6 semapv:UnspecifiedMatching OMIM:605003 SENP6 skos:exactMatch ncbigene:26054 semapv:UnspecifiedMatching -OMIM:605004 GSK3B skos:exactMatch ncbigene:2932 semapv:UnspecifiedMatching OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:GSK3B semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch ncbigene:2932 semapv:UnspecifiedMatching OMIM:605005 GALNT7 skos:exactMatch UMLS:C1414957 semapv:UnspecifiedMatching OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:GALNT7 semapv:UnspecifiedMatching OMIM:605005 GALNT7 skos:exactMatch ncbigene:51809 semapv:UnspecifiedMatching @@ -18775,183 +18779,183 @@ OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:FRAT2 semapv:UnspecifiedMatching OMIM:605006 FRAT2 skos:exactMatch ncbigene:23401 semapv:UnspecifiedMatching OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:ADAMTS5 semapv:UnspecifiedMatching OMIM:605007 ADAMTS5 skos:exactMatch ncbigene:11096 semapv:UnspecifiedMatching -OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:ADAMTS6 semapv:UnspecifiedMatching OMIM:605008 ADAMTS6 skos:exactMatch ncbigene:11174 semapv:UnspecifiedMatching -OMIM:605009 ADAMTS7 skos:exactMatch ncbigene:11173 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:ADAMTS6 semapv:UnspecifiedMatching OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:ADAMTS7 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch ncbigene:11173 semapv:UnspecifiedMatching OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:SPINK5 semapv:UnspecifiedMatching OMIM:605010 SPINK5 skos:exactMatch ncbigene:11005 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C1412209 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:ADAMTS3 semapv:UnspecifiedMatching OMIM:605011 ADAMTS3 skos:exactMatch ncbigene:9508 semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:SUPT16H semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C1412209 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching OMIM:605012 SUPT16H skos:exactMatch UMLS:C1420522 semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:SUPT16H semapv:UnspecifiedMatching OMIM:605012 SUPT16H skos:exactMatch ncbigene:11198 semapv:UnspecifiedMatching -OMIM:605014 STX11 skos:exactMatch ncbigene:8676 semapv:UnspecifiedMatching OMIM:605014 STX11 skos:exactMatch hgnc.symbol:STX11 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch ncbigene:8676 semapv:UnspecifiedMatching OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:ZNF214 semapv:UnspecifiedMatching OMIM:605015 ZNF214 skos:exactMatch ncbigene:7761 semapv:UnspecifiedMatching OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:ZNF215 semapv:UnspecifiedMatching OMIM:605016 ZNF215 skos:exactMatch ncbigene:7762 semapv:UnspecifiedMatching -OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:VPREB3 semapv:UnspecifiedMatching OMIM:605017 VPREB3 skos:exactMatch ncbigene:29802 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch hgnc.symbol:CYLD semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch ncbigene:1540 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:VPREB3 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1413850 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C5436881 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1413850 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching -OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:VSX1 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch hgnc.symbol:CYLD semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch ncbigene:1540 semapv:UnspecifiedMatching OMIM:605020 VSX1 skos:exactMatch ncbigene:30813 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:VSX1 semapv:UnspecifiedMatching OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:PAK2 semapv:UnspecifiedMatching OMIM:605022 PAK2 skos:exactMatch ncbigene:5062 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch ncbigene:54363 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:HAO1 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:605023 HAO1 skos:exactMatch UMLS:C1415468 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:HAO1 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch ncbigene:54363 semapv:UnspecifiedMatching OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:SLC4A8 semapv:UnspecifiedMatching OMIM:605024 SLC4A8 skos:exactMatch ncbigene:9498 semapv:UnspecifiedMatching -OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:ITGA3 semapv:UnspecifiedMatching OMIM:605025 ITGA3 skos:exactMatch ncbigene:3675 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:ITGA3 semapv:UnspecifiedMatching OMIM:605029 KLRF1 skos:exactMatch UMLS:C1421942 semapv:UnspecifiedMatching OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:KLRF1 semapv:UnspecifiedMatching OMIM:605029 KLRF1 skos:exactMatch ncbigene:51348 semapv:UnspecifiedMatching -OMIM:605030 STK3 skos:exactMatch ncbigene:6788 semapv:UnspecifiedMatching OMIM:605030 STK3 skos:exactMatch hgnc.symbol:STK3 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch ncbigene:6788 semapv:UnspecifiedMatching OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:PLK4 semapv:UnspecifiedMatching OMIM:605031 PLK4 skos:exactMatch ncbigene:10733 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch UMLS:C1413670 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:CPLX1 semapv:UnspecifiedMatching OMIM:605032 CPLX1 skos:exactMatch ncbigene:10815 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:CPLX1 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch UMLS:C1413670 semapv:UnspecifiedMatching OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:CPLX2 semapv:UnspecifiedMatching OMIM:605033 CPLX2 skos:exactMatch ncbigene:10814 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch ncbigene:100287932 semapv:UnspecifiedMatching OMIM:605034 TIMM23 skos:exactMatch UMLS:C1424893 semapv:UnspecifiedMatching OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:TIMM23 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch ncbigene:100287932 semapv:UnspecifiedMatching OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:WASF1 semapv:UnspecifiedMatching OMIM:605035 WASF1 skos:exactMatch ncbigene:8936 semapv:UnspecifiedMatching -OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:ZNF219 semapv:UnspecifiedMatching OMIM:605036 ZNF219 skos:exactMatch ncbigene:51222 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:ZNF219 semapv:UnspecifiedMatching OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:KIF17 semapv:UnspecifiedMatching OMIM:605037 KIF17 skos:exactMatch ncbigene:57576 semapv:UnspecifiedMatching -OMIM:605038 PMS2L1 skos:exactMatch ncbigene:5379 semapv:UnspecifiedMatching OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:PMS2P1 semapv:UnspecifiedMatching -OMIM:605039 bohring-opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch ncbigene:5379 semapv:UnspecifiedMatching OMIM:605039 bohring-opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching +OMIM:605039 bohring-opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching OMIM:605042 MED23 skos:exactMatch hgnc.symbol:MED23 semapv:UnspecifiedMatching OMIM:605042 MED23 skos:exactMatch ncbigene:9439 semapv:UnspecifiedMatching -OMIM:605043 MED26 skos:exactMatch hgnc.symbol:MED26 semapv:UnspecifiedMatching OMIM:605043 MED26 skos:exactMatch ncbigene:9441 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch hgnc.symbol:MED26 semapv:UnspecifiedMatching OMIM:605044 MED27 skos:exactMatch hgnc.symbol:MED27 semapv:UnspecifiedMatching OMIM:605044 MED27 skos:exactMatch ncbigene:9442 semapv:UnspecifiedMatching OMIM:605045 MED7 skos:exactMatch hgnc.symbol:MED7 semapv:UnspecifiedMatching OMIM:605045 MED7 skos:exactMatch ncbigene:9443 semapv:UnspecifiedMatching -OMIM:605046 UBQLN1 skos:exactMatch ncbigene:29979 semapv:UnspecifiedMatching OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:UBQLN1 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch ncbigene:29979 semapv:UnspecifiedMatching OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:IRF7 semapv:UnspecifiedMatching OMIM:605047 IRF7 skos:exactMatch ncbigene:3665 semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch UMLS:C1422750 semapv:UnspecifiedMatching OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:IKBKE semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch UMLS:C1422750 semapv:UnspecifiedMatching OMIM:605048 IKBKE skos:exactMatch ncbigene:9641 semapv:UnspecifiedMatching -OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:TWSG1 semapv:UnspecifiedMatching OMIM:605049 TWSG1 skos:exactMatch ncbigene:57045 semapv:UnspecifiedMatching -OMIM:605051 CNR2 skos:exactMatch ncbigene:1269 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:TWSG1 semapv:UnspecifiedMatching OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:CNR2 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch ncbigene:6894 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:TARBP1 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch ncbigene:1269 semapv:UnspecifiedMatching OMIM:605052 TARBP1 skos:exactMatch UMLS:C1420585 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:TARBP1 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch ncbigene:6894 semapv:UnspecifiedMatching OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:TARBP2 semapv:UnspecifiedMatching OMIM:605053 TARBP2 skos:exactMatch ncbigene:6895 semapv:UnspecifiedMatching OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:SERF2 semapv:UnspecifiedMatching OMIM:605054 SERF2 skos:exactMatch ncbigene:10169 semapv:UnspecifiedMatching -OMIM:605056 WASL skos:exactMatch hgnc.symbol:WASL semapv:UnspecifiedMatching OMIM:605056 WASL skos:exactMatch ncbigene:8976 semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch hgnc.symbol:WASL semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch UMLS:C1424895 semapv:UnspecifiedMatching OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:TIMM17A semapv:UnspecifiedMatching OMIM:605057 TIMM17A skos:exactMatch ncbigene:10440 semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch UMLS:C1424895 semapv:UnspecifiedMatching OMIM:605058 TIMM44 skos:exactMatch UMLS:C1424896 semapv:UnspecifiedMatching OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:TIMM44 semapv:UnspecifiedMatching OMIM:605058 TIMM44 skos:exactMatch ncbigene:10469 semapv:UnspecifiedMatching OMIM:605060 SHPK skos:exactMatch hgnc.symbol:SHPK semapv:UnspecifiedMatching OMIM:605060 SHPK skos:exactMatch ncbigene:23729 semapv:UnspecifiedMatching -OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:TERF2IP semapv:UnspecifiedMatching OMIM:605061 TERF2IP skos:exactMatch ncbigene:54386 semapv:UnspecifiedMatching -OMIM:605062 TAS2R5 skos:exactMatch ncbigene:54429 semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:TERF2IP semapv:UnspecifiedMatching OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:TAS2R5 semapv:UnspecifiedMatching -OMIM:605063 STIP1 skos:exactMatch ncbigene:10963 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch ncbigene:54429 semapv:UnspecifiedMatching OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:STIP1 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch ncbigene:10963 semapv:UnspecifiedMatching OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:KIF23 semapv:UnspecifiedMatching OMIM:605064 KIF23 skos:exactMatch ncbigene:9493 semapv:UnspecifiedMatching OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:CDC37 semapv:UnspecifiedMatching OMIM:605065 CDC37 skos:exactMatch ncbigene:11140 semapv:UnspecifiedMatching -OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:YWHAE semapv:UnspecifiedMatching OMIM:605066 YWHAE skos:exactMatch ncbigene:7531 semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:YWHAE semapv:UnspecifiedMatching OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:WASF3 semapv:UnspecifiedMatching OMIM:605068 WASF3 skos:exactMatch ncbigene:10810 semapv:UnspecifiedMatching -OMIM:605069 MKNK2 skos:exactMatch ncbigene:2872 semapv:UnspecifiedMatching OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:MKNK2 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch ncbigene:2872 semapv:UnspecifiedMatching OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:EEA1 semapv:UnspecifiedMatching OMIM:605070 EEA1 skos:exactMatch ncbigene:8411 semapv:UnspecifiedMatching -OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:RGS19 semapv:UnspecifiedMatching OMIM:605071 RGS19 skos:exactMatch ncbigene:10287 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:RGS19 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch ncbigene:10755 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:GIPC1 semapv:UnspecifiedMatching OMIM:605072 GIPC1 skos:exactMatch UMLS:C1825351 semapv:UnspecifiedMatching OMIM:605072 GIPC1 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:GIPC1 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch ncbigene:10755 semapv:UnspecifiedMatching -OMIM:605073 TRIM37 skos:exactMatch ncbigene:4591 semapv:UnspecifiedMatching OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:TRIM37 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch ncbigene:4591 semapv:UnspecifiedMatching OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:SNAPC2 semapv:UnspecifiedMatching OMIM:605076 SNAPC2 skos:exactMatch ncbigene:6618 semapv:UnspecifiedMatching OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:DMAP1 semapv:UnspecifiedMatching OMIM:605077 DNMAP1 skos:exactMatch ncbigene:55929 semapv:UnspecifiedMatching -OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:TARDBP semapv:UnspecifiedMatching OMIM:605078 TARDBP skos:exactMatch ncbigene:23435 semapv:UnspecifiedMatching -OMIM:605079 SALL3 skos:exactMatch ncbigene:27164 semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:TARDBP semapv:UnspecifiedMatching OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:SALL3 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch ncbigene:54714 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:CNGB3 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch ncbigene:27164 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C1413548 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:CYTH3 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:CNGB3 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch ncbigene:54714 semapv:UnspecifiedMatching OMIM:605081 CYTH3 skos:exactMatch ncbigene:9265 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:CYTH3 semapv:UnspecifiedMatching OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:RASSF1 semapv:UnspecifiedMatching OMIM:605082 RASSF1 skos:exactMatch ncbigene:11186 semapv:UnspecifiedMatching OMIM:605083 FRZB skos:exactMatch hgnc.symbol:FRZB semapv:UnspecifiedMatching OMIM:605083 FRZB skos:exactMatch ncbigene:2487 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch ncbigene:10367 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:MICU1 semapv:UnspecifiedMatching OMIM:605084 MICU1 skos:exactMatch UMLS:C1413147 semapv:UnspecifiedMatching OMIM:605084 MICU1 skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:MICU1 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch ncbigene:10367 semapv:UnspecifiedMatching OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:TREM1 semapv:UnspecifiedMatching OMIM:605085 TREM1 skos:exactMatch ncbigene:54210 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch UMLS:C1425067 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:TREM2 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch ncbigene:54209 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch ncbigene:10026 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch hgnc.symbol:PIGK semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C5394576 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C1418566 semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C5394575 semapv:UnspecifiedMatching -OMIM:605088 MVP skos:exactMatch hgnc.symbol:MVP semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch hgnc.symbol:PIGK semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C1418566 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch ncbigene:10026 semapv:UnspecifiedMatching OMIM:605088 MVP skos:exactMatch ncbigene:9961 semapv:UnspecifiedMatching -OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:MRPL40 semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch hgnc.symbol:MVP semapv:UnspecifiedMatching OMIM:605089 MRPL40 skos:exactMatch ncbigene:64976 semapv:UnspecifiedMatching -OMIM:605090 RARRES1 skos:exactMatch ncbigene:5918 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:MRPL40 semapv:UnspecifiedMatching OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:RARRES1 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch ncbigene:5918 semapv:UnspecifiedMatching OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:FGD2 semapv:UnspecifiedMatching OMIM:605091 FGD2 skos:exactMatch ncbigene:221472 semapv:UnspecifiedMatching OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:PLAAT4 semapv:UnspecifiedMatching OMIM:605092 PLAAT4 skos:exactMatch ncbigene:5920 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:SH2B3 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch ncbigene:10019 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:SH2B3 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C3805370 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C1822705 semapv:UnspecifiedMatching @@ -18963,28 +18967,28 @@ OMIM:605096 ANO7 skos:exactMatch ncbigene:50636 semapv:UnspecifiedMatching OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:SLC45A3 semapv:UnspecifiedMatching OMIM:605097 SLC45A3 skos:exactMatch UMLS:C1822765 semapv:UnspecifiedMatching OMIM:605097 SLC45A3 skos:exactMatch ncbigene:85414 semapv:UnspecifiedMatching -OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:PPM1D semapv:UnspecifiedMatching OMIM:605100 PPM1D skos:exactMatch ncbigene:8493 semapv:UnspecifiedMatching -OMIM:605101 TAB2 skos:exactMatch ncbigene:23118 semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:PPM1D semapv:UnspecifiedMatching OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:TAB2 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch ncbigene:23118 semapv:UnspecifiedMatching OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:MASP2 semapv:UnspecifiedMatching OMIM:605102 MASP2 skos:exactMatch ncbigene:10747 semapv:UnspecifiedMatching OMIM:605103 NMU skos:exactMatch hgnc.symbol:NMU semapv:UnspecifiedMatching OMIM:605103 NMU skos:exactMatch ncbigene:10874 semapv:UnspecifiedMatching OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:RBFOX1 semapv:UnspecifiedMatching OMIM:605104 RBFOX1 skos:exactMatch ncbigene:54715 semapv:UnspecifiedMatching -OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:LPAR3 semapv:UnspecifiedMatching OMIM:605106 LPAR3 skos:exactMatch ncbigene:23566 semapv:UnspecifiedMatching -OMIM:605107 EDF1 skos:exactMatch ncbigene:8721 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:LPAR3 semapv:UnspecifiedMatching OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:EDF1 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch ncbigene:8721 semapv:UnspecifiedMatching OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:NMUR2 semapv:UnspecifiedMatching OMIM:605108 NMUR2 skos:exactMatch ncbigene:56923 semapv:UnspecifiedMatching OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:HERC1 semapv:UnspecifiedMatching OMIM:605109 HERC1 skos:exactMatch ncbigene:8925 semapv:UnspecifiedMatching OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:LPAR2 semapv:UnspecifiedMatching OMIM:605110 LPAR2 skos:exactMatch ncbigene:9170 semapv:UnspecifiedMatching -OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:S1PR2 semapv:UnspecifiedMatching OMIM:605111 S1PR2 skos:exactMatch ncbigene:9294 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:S1PR2 semapv:UnspecifiedMatching OMIM:605112 TMOD3 skos:exactMatch ncbigene:29766 semapv:UnspecifiedMatching OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:TMOD3 semapv:UnspecifiedMatching OMIM:605113 AASS skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching @@ -18994,10 +18998,10 @@ OMIM:605113 AASS skos:exactMatch ncbigene:10157 semapv:UnspecifiedMatching OMIM:605114 SPO11 skos:exactMatch UMLS:C1335860 semapv:UnspecifiedMatching OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:SPO11 semapv:UnspecifiedMatching OMIM:605114 SPO11 skos:exactMatch ncbigene:23626 semapv:UnspecifiedMatching -OMIM:605116 CHRNA9 skos:exactMatch ncbigene:55584 semapv:UnspecifiedMatching OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:CHRNA9 semapv:UnspecifiedMatching -OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:SOCS2 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch ncbigene:55584 semapv:UnspecifiedMatching OMIM:605117 SOCS2 skos:exactMatch ncbigene:8835 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:SOCS2 semapv:UnspecifiedMatching OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:SOCS6 semapv:UnspecifiedMatching OMIM:605118 SOCS6 skos:exactMatch ncbigene:9306 semapv:UnspecifiedMatching OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:PPM1G semapv:UnspecifiedMatching @@ -19024,13 +19028,13 @@ OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:PSME3 semapv:UnspecifiedMatching OMIM:605129 PSME3 skos:exactMatch ncbigene:10197 semapv:UnspecifiedMatching OMIM:605130 wiedemann-steiner syndrome skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching OMIM:605130 wiedemann-steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch ncbigene:51741 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch hgnc.symbol:WWOX semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch ncbigene:51741 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C4016881 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C1421525 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C1414724 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching OMIM:605132 TLE4 skos:exactMatch UMLS:C1420755 semapv:UnspecifiedMatching OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:TLE4 semapv:UnspecifiedMatching OMIM:605132 TLE4 skos:exactMatch ncbigene:7091 semapv:UnspecifiedMatching @@ -19044,8 +19048,8 @@ OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:CCT2 semapv:UnspecifiedMatching OMIM:605139 CCT2 skos:exactMatch ncbigene:10576 semapv:UnspecifiedMatching OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:CCT7 semapv:UnspecifiedMatching OMIM:605140 CCT7 skos:exactMatch ncbigene:10574 semapv:UnspecifiedMatching -OMIM:605141 VPREB1 skos:exactMatch ncbigene:7441 semapv:UnspecifiedMatching OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:VPREB1 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch ncbigene:7441 semapv:UnspecifiedMatching OMIM:605142 CCT4 skos:exactMatch ncbigene:10575 semapv:UnspecifiedMatching OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:CCT4 semapv:UnspecifiedMatching OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:ACTR1A semapv:UnspecifiedMatching @@ -19054,8 +19058,8 @@ OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:ACTR1B semapv:UnspecifiedMatching OMIM:605144 ACTR1B skos:exactMatch ncbigene:10120 semapv:UnspecifiedMatching OMIM:605145 ANKH skos:exactMatch hgnc.symbol:ANKH semapv:UnspecifiedMatching OMIM:605145 ANKH skos:exactMatch ncbigene:56172 semapv:UnspecifiedMatching -OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:S1PR5 semapv:UnspecifiedMatching OMIM:605146 S1PR5 skos:exactMatch ncbigene:53637 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:S1PR5 semapv:UnspecifiedMatching OMIM:605147 LECT1 skos:exactMatch ncbigene:11061 semapv:UnspecifiedMatching OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:CNMD semapv:UnspecifiedMatching OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:GALNT6 semapv:UnspecifiedMatching @@ -19067,16 +19071,16 @@ OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:CFAP45 semapv:UnspecifiedMatching OMIM:605152 CFAP45 skos:exactMatch ncbigene:25790 semapv:UnspecifiedMatching OMIM:605153 RAMP1 skos:exactMatch ncbigene:10267 semapv:UnspecifiedMatching OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:RAMP1 semapv:UnspecifiedMatching -OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:RAMP2 semapv:UnspecifiedMatching OMIM:605154 RAMP2 skos:exactMatch ncbigene:10266 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:RAMP2 semapv:UnspecifiedMatching OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:RAMP3 semapv:UnspecifiedMatching OMIM:605155 RAMP3 skos:exactMatch ncbigene:10268 semapv:UnspecifiedMatching OMIM:605157 p53-responsive gene 1 skos:exactMatch ncbigene:23574 semapv:UnspecifiedMatching OMIM:605158 PXDN skos:exactMatch hgnc.symbol:PXDN semapv:UnspecifiedMatching OMIM:605158 PXDN skos:exactMatch ncbigene:7837 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch UMLS:C1826619 semapv:UnspecifiedMatching OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:AIFM2 semapv:UnspecifiedMatching OMIM:605159 AIFM2 skos:exactMatch ncbigene:84883 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch UMLS:C1826619 semapv:UnspecifiedMatching OMIM:605160 p53-responsive gene 4 skos:exactMatch ncbigene:284124 semapv:UnspecifiedMatching OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:WFDC5 semapv:UnspecifiedMatching OMIM:605161 WFDC5 skos:exactMatch ncbigene:149708 semapv:UnspecifiedMatching @@ -19088,27 +19092,27 @@ OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:HDAC2 semapv:UnspecifiedMatching OMIM:605164 HDAC2 skos:exactMatch ncbigene:3066 semapv:UnspecifiedMatching OMIM:605165 ZNF278 skos:exactMatch ncbigene:23598 semapv:UnspecifiedMatching OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:PATZ1 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch ncbigene:8841 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:HDAC3 semapv:UnspecifiedMatching OMIM:605166 HDAC3 skos:exactMatch UMLS:C1366355 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:HDAC3 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch ncbigene:8841 semapv:UnspecifiedMatching OMIM:605167 BAGE skos:exactMatch hgnc.symbol:BAGE semapv:UnspecifiedMatching OMIM:605167 BAGE skos:exactMatch ncbigene:574 semapv:UnspecifiedMatching OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:FABP5 semapv:UnspecifiedMatching OMIM:605168 FABP5 skos:exactMatch ncbigene:2171 semapv:UnspecifiedMatching -OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:ELF5 semapv:UnspecifiedMatching OMIM:605169 ELF5 skos:exactMatch ncbigene:2001 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:ELF5 semapv:UnspecifiedMatching OMIM:605170 EI24 skos:exactMatch hgnc.symbol:EI24 semapv:UnspecifiedMatching OMIM:605170 EI24 skos:exactMatch ncbigene:9538 semapv:UnspecifiedMatching -OMIM:605171 TP53I3 skos:exactMatch ncbigene:9540 semapv:UnspecifiedMatching OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:TP53I3 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch ncbigene:9540 semapv:UnspecifiedMatching OMIM:605172 PTGES skos:exactMatch hgnc.symbol:PTGES semapv:UnspecifiedMatching OMIM:605172 PTGES skos:exactMatch ncbigene:9536 semapv:UnspecifiedMatching OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:ENC1 semapv:UnspecifiedMatching OMIM:605173 ENC1 skos:exactMatch ncbigene:8507 semapv:UnspecifiedMatching OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:ADAMTS1 semapv:UnspecifiedMatching OMIM:605174 ADAMTS1 skos:exactMatch ncbigene:9510 semapv:UnspecifiedMatching -OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:ADAMTS8 semapv:UnspecifiedMatching OMIM:605175 ADAMTS8 skos:exactMatch ncbigene:11095 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:ADAMTS8 semapv:UnspecifiedMatching OMIM:605176 HAO2 skos:exactMatch ncbigene:51179 semapv:UnspecifiedMatching OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:HAO2 semapv:UnspecifiedMatching OMIM:605178 GAS8 skos:exactMatch UMLS:C1333661 semapv:UnspecifiedMatching @@ -19129,8 +19133,8 @@ OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:PAIP1 semapv:UnspecifiedMatching OMIM:605184 PAIP1 skos:exactMatch ncbigene:10605 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch ncbigene:54567 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:DLL4 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch UMLS:C1414072 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:WIF1 semapv:UnspecifiedMatching OMIM:605186 WIF1 skos:exactMatch ncbigene:11197 semapv:UnspecifiedMatching OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:GPR27 semapv:UnspecifiedMatching @@ -19146,10 +19150,10 @@ OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:BTAF1 semapv:UnspecifiedMatching OMIM:605191 BTAF1 skos:exactMatch ncbigene:9044 semapv:UnspecifiedMatching OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:DIRAS3 semapv:UnspecifiedMatching OMIM:605193 DIRAS3 skos:exactMatch ncbigene:9077 semapv:UnspecifiedMatching -OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:CFC1 semapv:UnspecifiedMatching OMIM:605194 CFC1 skos:exactMatch ncbigene:55997 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch ncbigene:145873 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:CFC1 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:MESP2 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch ncbigene:145873 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch UMLS:C1825969 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:COQ3 semapv:UnspecifiedMatching @@ -19158,94 +19162,94 @@ OMIM:605197 KYNU skos:exactMatch hgnc.symbol:KYNU semapv:UnspecifiedMatching OMIM:605197 KYNU skos:exactMatch ncbigene:8942 semapv:UnspecifiedMatching OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:TENT4A semapv:UnspecifiedMatching OMIM:605198 TENT4A skos:exactMatch ncbigene:11044 semapv:UnspecifiedMatching -OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:SFPQ semapv:UnspecifiedMatching OMIM:605199 SFPQ skos:exactMatch ncbigene:6421 semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:SFPQ semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:HERC3 semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch ncbigene:8916 semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch hgnc.symbol:NANS semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch ncbigene:54187 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:TOR1A semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch ncbigene:1861 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C4016920 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:TOR1A semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch ncbigene:1861 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C4016919 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C1540039 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C4016919 semapv:UnspecifiedMatching OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:ADCY10 semapv:UnspecifiedMatching OMIM:605205 ADCY10 skos:exactMatch ncbigene:55811 semapv:UnspecifiedMatching OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:HCN4 semapv:UnspecifiedMatching OMIM:605206 HCN4 skos:exactMatch ncbigene:10021 semapv:UnspecifiedMatching -OMIM:605207 CYP26B1 skos:exactMatch ncbigene:56603 semapv:UnspecifiedMatching OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:CYP26B1 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch ncbigene:56603 semapv:UnspecifiedMatching OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:SLC17A7 semapv:UnspecifiedMatching OMIM:605208 SLC17A7 skos:exactMatch ncbigene:57030 semapv:UnspecifiedMatching -OMIM:605209 CHFR skos:exactMatch hgnc.symbol:CHFR semapv:UnspecifiedMatching OMIM:605209 CHFR skos:exactMatch ncbigene:55743 semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch hgnc.symbol:CHFR semapv:UnspecifiedMatching OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:DISC1 semapv:UnspecifiedMatching OMIM:605210 DISC1 skos:exactMatch ncbigene:27185 semapv:UnspecifiedMatching OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:BARHL1 semapv:UnspecifiedMatching OMIM:605211 BARHL1 skos:exactMatch ncbigene:56751 semapv:UnspecifiedMatching -OMIM:605212 BARHL2 skos:exactMatch ncbigene:343472 semapv:UnspecifiedMatching OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:BARHL2 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch ncbigene:343472 semapv:UnspecifiedMatching OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:PDPK1 semapv:UnspecifiedMatching OMIM:605213 PDPK1 skos:exactMatch ncbigene:5170 semapv:UnspecifiedMatching OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:KCNMB2 semapv:UnspecifiedMatching OMIM:605214 KCNMB2 skos:exactMatch ncbigene:10242 semapv:UnspecifiedMatching -OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:SKAP2 semapv:UnspecifiedMatching OMIM:605215 SKAP2 skos:exactMatch ncbigene:8935 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:SKAP2 semapv:UnspecifiedMatching OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:ARHGEF4 semapv:UnspecifiedMatching OMIM:605216 ARHGEF4 skos:exactMatch ncbigene:50649 semapv:UnspecifiedMatching -OMIM:605217 SHC2 skos:exactMatch ncbigene:25759 semapv:UnspecifiedMatching OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:SHC2 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch ncbigene:25759 semapv:UnspecifiedMatching OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:DIABLO semapv:UnspecifiedMatching OMIM:605219 DIABLO skos:exactMatch ncbigene:56616 semapv:UnspecifiedMatching OMIM:605220 APOBR skos:exactMatch hgnc.symbol:APOBR semapv:UnspecifiedMatching OMIM:605220 APOBR skos:exactMatch ncbigene:55911 semapv:UnspecifiedMatching -OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:SRSF10 semapv:UnspecifiedMatching OMIM:605221 SRSF10 skos:exactMatch ncbigene:10772 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:SRSF10 semapv:UnspecifiedMatching OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:KCNMB3 semapv:UnspecifiedMatching OMIM:605222 KCNMB3 skos:exactMatch ncbigene:27094 semapv:UnspecifiedMatching OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:KCNMB4 semapv:UnspecifiedMatching OMIM:605223 KCNMB4 skos:exactMatch ncbigene:27345 semapv:UnspecifiedMatching -OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching OMIM:605224 RRH skos:exactMatch hgnc.symbol:RRH semapv:UnspecifiedMatching -OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching OMIM:605226 RERE skos:exactMatch ncbigene:473 semapv:UnspecifiedMatching -OMIM:605227 RECK skos:exactMatch hgnc.symbol:RECK semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching OMIM:605227 RECK skos:exactMatch ncbigene:8434 semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch hgnc.symbol:RECK semapv:UnspecifiedMatching OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:CIR1 semapv:UnspecifiedMatching OMIM:605228 CIR1 skos:exactMatch ncbigene:9541 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:TP53BP1 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch ncbigene:7158 semapv:UnspecifiedMatching OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:WNK1 semapv:UnspecifiedMatching OMIM:605232 WNK1 skos:exactMatch ncbigene:65125 semapv:UnspecifiedMatching -OMIM:605234 VN1R1 skos:exactMatch ncbigene:57191 semapv:UnspecifiedMatching OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:VN1R1 semapv:UnspecifiedMatching -OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:NOL3 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch ncbigene:57191 semapv:UnspecifiedMatching OMIM:605235 NOL3 skos:exactMatch ncbigene:8996 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:NOL3 semapv:UnspecifiedMatching OMIM:605236 CORIN skos:exactMatch hgnc.symbol:CORIN semapv:UnspecifiedMatching OMIM:605236 CORIN skos:exactMatch ncbigene:10699 semapv:UnspecifiedMatching OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:XPR1 semapv:UnspecifiedMatching OMIM:605237 XPR1 skos:exactMatch ncbigene:9213 semapv:UnspecifiedMatching -OMIM:605238 HNMT skos:exactMatch ncbigene:3176 semapv:UnspecifiedMatching OMIM:605238 HNMT skos:exactMatch hgnc.symbol:HNMT semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch ncbigene:3176 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch ncbigene:50617 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:ATP6V0A4 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436960 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C1412686 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:ATP6V0A4 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436959 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C1412686 semapv:UnspecifiedMatching OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:CCL28 semapv:UnspecifiedMatching OMIM:605240 CCL28 skos:exactMatch ncbigene:56477 semapv:UnspecifiedMatching OMIM:605241 LY86 skos:exactMatch hgnc.symbol:LY86 semapv:UnspecifiedMatching OMIM:605241 LY86 skos:exactMatch ncbigene:9450 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1421379 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch hgnc.symbol:USH1C semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch ncbigene:10083 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch hgnc.symbol:USH1C semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1421379 semapv:UnspecifiedMatching OMIM:605243 LY96 skos:exactMatch hgnc.symbol:LY96 semapv:UnspecifiedMatching OMIM:605243 LY96 skos:exactMatch ncbigene:23643 semapv:UnspecifiedMatching OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:SLC2A8 semapv:UnspecifiedMatching @@ -19254,19 +19258,19 @@ OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:C3AR1 semapv:UnspecifiedMatching OMIM:605246 C3AR1 skos:exactMatch ncbigene:719 semapv:UnspecifiedMatching OMIM:605247 PIDD1 skos:exactMatch ncbigene:55367 semapv:UnspecifiedMatching OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:PIDD1 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch ncbigene:57192 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:MCOLN1 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch UMLS:C1421947 semapv:UnspecifiedMatching OMIM:605248 MCOLN1 skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch UMLS:C1421947 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:MCOLN1 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch ncbigene:57192 semapv:UnspecifiedMatching OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:ABCC4 semapv:UnspecifiedMatching OMIM:605250 ABCC4 skos:exactMatch ncbigene:10257 semapv:UnspecifiedMatching OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:ABCC5 semapv:UnspecifiedMatching OMIM:605251 ABCC5 skos:exactMatch ncbigene:10057 semapv:UnspecifiedMatching -OMIM:605252 POLI skos:exactMatch hgnc.symbol:POLI semapv:UnspecifiedMatching OMIM:605252 POLI skos:exactMatch ncbigene:11201 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721437 semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch hgnc.symbol:POLI semapv:UnspecifiedMatching OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721436 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721437 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:NCSTN semapv:UnspecifiedMatching OMIM:605254 NCSTN skos:exactMatch ncbigene:23385 semapv:UnspecifiedMatching OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:ETV7 semapv:UnspecifiedMatching @@ -19313,10 +19317,10 @@ OMIM:605279 CES3 skos:exactMatch ncbigene:23491 semapv:UnspecifiedMatching OMIM:605281 DDX4 skos:exactMatch UMLS:C1425720 semapv:UnspecifiedMatching OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:DDX4 semapv:UnspecifiedMatching OMIM:605281 DDX4 skos:exactMatch ncbigene:54514 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch ncbigene:54551 semapv:UnspecifiedMatching OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:MAGEL2 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch ncbigene:54551 semapv:UnspecifiedMatching OMIM:605283 MAGEL2 skos:exactMatch UMLS:C1416986 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C0694894 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C0751674 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C1854465 semapv:UnspecifiedMatching @@ -19331,44 +19335,44 @@ OMIM:605286 CAPN10 skos:exactMatch UMLS:C1854448 semapv:UnspecifiedMatching OMIM:605286 CAPN10 skos:exactMatch UMLS:C5436961 semapv:UnspecifiedMatching OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:RNPEPL1 semapv:UnspecifiedMatching OMIM:605287 RNPEPL1 skos:exactMatch ncbigene:57140 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C4225538 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch ncbigene:4976 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:OPA1 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C4225538 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C1417953 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching OMIM:605292 NT5M skos:exactMatch hgnc.symbol:NT5M semapv:UnspecifiedMatching OMIM:605292 NT5M skos:exactMatch ncbigene:56953 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:CHST6 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch ncbigene:4166 semapv:UnspecifiedMatching -OMIM:605295 FIGN skos:exactMatch ncbigene:55137 semapv:UnspecifiedMatching OMIM:605295 FIGN skos:exactMatch hgnc.symbol:FIGN semapv:UnspecifiedMatching -OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:PSMG1 semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch ncbigene:55137 semapv:UnspecifiedMatching OMIM:605296 PSMG1 skos:exactMatch ncbigene:8624 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:PSMG1 semapv:UnspecifiedMatching OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:NELFCD semapv:UnspecifiedMatching OMIM:605297 NELFCD skos:exactMatch ncbigene:51497 semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch UMLS:C1414164 semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:VPS26C semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch ncbigene:10311 semapv:UnspecifiedMatching -OMIM:605299 NCOA6 skos:exactMatch ncbigene:23054 semapv:UnspecifiedMatching OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:NCOA6 semapv:UnspecifiedMatching -OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:SH2B2 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch ncbigene:23054 semapv:UnspecifiedMatching OMIM:605300 SH2B2 skos:exactMatch ncbigene:10603 semapv:UnspecifiedMatching -OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:TACC1 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:SH2B2 semapv:UnspecifiedMatching OMIM:605301 TACC1 skos:exactMatch ncbigene:6867 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:TACC1 semapv:UnspecifiedMatching OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:TACC2 semapv:UnspecifiedMatching OMIM:605302 TACC2 skos:exactMatch ncbigene:10579 semapv:UnspecifiedMatching OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:TACC3 semapv:UnspecifiedMatching OMIM:605303 TACC3 skos:exactMatch ncbigene:10460 semapv:UnspecifiedMatching -OMIM:605304 NGB skos:exactMatch ncbigene:58157 semapv:UnspecifiedMatching OMIM:605304 NGB skos:exactMatch hgnc.symbol:NGB semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch ncbigene:58157 semapv:UnspecifiedMatching OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:KIR2DL5A semapv:UnspecifiedMatching OMIM:605305 KIR2DL5A skos:exactMatch ncbigene:57292 semapv:UnspecifiedMatching -OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:CLEC4A semapv:UnspecifiedMatching OMIM:605306 CLEC4A skos:exactMatch ncbigene:50856 semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:CLEC4A semapv:UnspecifiedMatching OMIM:605307 ADMR skos:exactMatch hgnc.symbol:GPR182 semapv:UnspecifiedMatching OMIM:605307 ADMR skos:exactMatch ncbigene:11318 semapv:UnspecifiedMatching OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:ZNF346 semapv:UnspecifiedMatching @@ -19377,8 +19381,8 @@ OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:CCHCR1 semapv:UnspecifiedMatching OMIM:605310 CCHCR1 skos:exactMatch ncbigene:54535 semapv:UnspecifiedMatching OMIM:605312 GDF15 skos:exactMatch ncbigene:9518 semapv:UnspecifiedMatching OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:GDF15 semapv:UnspecifiedMatching -OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:RBM8A semapv:UnspecifiedMatching OMIM:605313 RBM8A skos:exactMatch ncbigene:9939 semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:RBM8A semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch UMLS:C1333893 semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:HDAC4 semapv:UnspecifiedMatching @@ -19387,8 +19391,8 @@ OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:HDAC5 semapv:UnspecifiedMatching OMIM:605315 HDAC5 skos:exactMatch ncbigene:10014 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch ncbigene:93986 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:FOXP2 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch UMLS:C1422249 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch UMLS:C1422249 semapv:UnspecifiedMatching OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:PFKFB3 semapv:UnspecifiedMatching OMIM:605319 PFKFB3 skos:exactMatch ncbigene:5209 semapv:UnspecifiedMatching OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:PFKFB4 semapv:UnspecifiedMatching @@ -19414,13 +19418,13 @@ OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:EPB41L3 semapv:UnspecifiedMatchi OMIM:605331 EPB41L3 skos:exactMatch ncbigene:23136 semapv:UnspecifiedMatching OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:KLHL1 semapv:UnspecifiedMatching OMIM:605332 KLHL1 skos:exactMatch ncbigene:57626 semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:PDS5B semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch UMLS:C1332105 semapv:UnspecifiedMatching OMIM:605333 PDS5B skos:exactMatch ncbigene:23047 semapv:UnspecifiedMatching -OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:PHLDA1 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch UMLS:C1332105 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:PDS5B semapv:UnspecifiedMatching OMIM:605335 PHLDA1 skos:exactMatch ncbigene:22822 semapv:UnspecifiedMatching -OMIM:605336 CFHR3 skos:exactMatch ncbigene:10878 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:PHLDA1 semapv:UnspecifiedMatching OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:CFHR3 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch ncbigene:10878 semapv:UnspecifiedMatching OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:CFHR4 semapv:UnspecifiedMatching OMIM:605337 CFHR4 skos:exactMatch ncbigene:10877 semapv:UnspecifiedMatching OMIM:605338 INA skos:exactMatch hgnc.symbol:INA semapv:UnspecifiedMatching @@ -19437,16 +19441,16 @@ OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:FSTL3 semapv:UnspecifiedMatching OMIM:605343 FSTL3 skos:exactMatch ncbigene:10272 semapv:UnspecifiedMatching OMIM:605344 NFYC skos:exactMatch hgnc.symbol:NFYC semapv:UnspecifiedMatching OMIM:605344 NFYC skos:exactMatch ncbigene:4802 semapv:UnspecifiedMatching -OMIM:605345 ALKBH1 skos:exactMatch ncbigene:8846 semapv:UnspecifiedMatching OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:ALKBH1 semapv:UnspecifiedMatching -OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:PADI4 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch ncbigene:8846 semapv:UnspecifiedMatching OMIM:605347 PADI4 skos:exactMatch ncbigene:23569 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:PADI4 semapv:UnspecifiedMatching OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:TMEM50A semapv:UnspecifiedMatching OMIM:605348 TMEM50A skos:exactMatch ncbigene:23585 semapv:UnspecifiedMatching OMIM:605349 NARF skos:exactMatch hgnc.symbol:NARF semapv:UnspecifiedMatching OMIM:605349 NARF skos:exactMatch ncbigene:26502 semapv:UnspecifiedMatching -OMIM:605350 IL27RA skos:exactMatch ncbigene:9466 semapv:UnspecifiedMatching OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:IL27RA semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch ncbigene:9466 semapv:UnspecifiedMatching OMIM:605351 FGL2 skos:exactMatch ncbigene:10875 semapv:UnspecifiedMatching OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:FGL2 semapv:UnspecifiedMatching OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:MFHAS1 semapv:UnspecifiedMatching @@ -19467,40 +19471,40 @@ OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:GTF2A1L semapv:UnspecifiedMatchi OMIM:605358 GTF2A1L skos:exactMatch ncbigene:11036 semapv:UnspecifiedMatching OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:PRR4 semapv:UnspecifiedMatching OMIM:605359 PRR4 skos:exactMatch ncbigene:11272 semapv:UnspecifiedMatching -OMIM:605360 CCDC85B skos:exactMatch ncbigene:11007 semapv:UnspecifiedMatching OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:CCDC85B semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch UMLS:C1414925 semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch ncbigene:11007 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch UMLS:C2751938 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch UMLS:C1414925 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:OLFM1 semapv:UnspecifiedMatching OMIM:605366 OLFM1 skos:exactMatch ncbigene:10439 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:ELAC2 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch ncbigene:60528 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch UMLS:C1422480 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch UMLS:C3539120 semapv:UnspecifiedMatching -OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:BNIP3L semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:ELAC2 semapv:UnspecifiedMatching OMIM:605368 BNIP3L skos:exactMatch ncbigene:665 semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:BNIP3L semapv:UnspecifiedMatching OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:TMPRSS11D semapv:UnspecifiedMatching OMIM:605369 TMPRSS11D skos:exactMatch ncbigene:9407 semapv:UnspecifiedMatching OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:ARHGAP26 semapv:UnspecifiedMatching OMIM:605370 ARHGAP26 skos:exactMatch ncbigene:23092 semapv:UnspecifiedMatching OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:ARFGEF2 semapv:UnspecifiedMatching OMIM:605371 ARFGEF2 skos:exactMatch ncbigene:10564 semapv:UnspecifiedMatching -OMIM:605372 HNRNPA3 skos:exactMatch ncbigene:220988 semapv:UnspecifiedMatching OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:HNRNPA3 semapv:UnspecifiedMatching -OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:MYCNOS semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch ncbigene:220988 semapv:UnspecifiedMatching OMIM:605374 MYCNOS skos:exactMatch ncbigene:10408 semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:MYCNOS semapv:UnspecifiedMatching OMIM:605377 DMPK skos:exactMatch hgnc.symbol:DMPK semapv:UnspecifiedMatching OMIM:605377 DMPK skos:exactMatch ncbigene:1760 semapv:UnspecifiedMatching OMIM:605378 AAAS skos:exactMatch hgnc.symbol:AAAS semapv:UnspecifiedMatching OMIM:605378 AAAS skos:exactMatch ncbigene:8086 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch ncbigene:8139 semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch UMLS:C1414964 semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch hgnc.symbol:GAN semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch ncbigene:8139 semapv:UnspecifiedMatching OMIM:605380 FGF23 skos:exactMatch ncbigene:8074 semapv:UnspecifiedMatching OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:FGF23 semapv:UnspecifiedMatching OMIM:605381 RHCG skos:exactMatch hgnc.symbol:RHCG semapv:UnspecifiedMatching @@ -19509,8 +19513,8 @@ OMIM:605383 IL21R skos:exactMatch hgnc.symbol:IL21R semapv:UnspecifiedMatching OMIM:605383 IL21R skos:exactMatch ncbigene:50615 semapv:UnspecifiedMatching OMIM:605384 IL21 skos:exactMatch hgnc.symbol:IL21 semapv:UnspecifiedMatching OMIM:605384 IL21 skos:exactMatch ncbigene:59067 semapv:UnspecifiedMatching -OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:RCE1 semapv:UnspecifiedMatching OMIM:605385 RCE1 skos:exactMatch ncbigene:9986 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:RCE1 semapv:UnspecifiedMatching OMIM:605386 MIRLET7A1 skos:exactMatch ncbigene:406881 semapv:UnspecifiedMatching OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:MIRLET7A1 semapv:UnspecifiedMatching OMIM:605387 cataract 31, multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching @@ -19520,8 +19524,8 @@ OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C4551976 semapv:UnspecifiedMatc OMIM:605389 hypotrichosis 1 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:605390 LPXN skos:exactMatch hgnc.symbol:LPXN semapv:UnspecifiedMatching OMIM:605390 LPXN skos:exactMatch ncbigene:9404 semapv:UnspecifiedMatching -OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:MINPP1 semapv:UnspecifiedMatching OMIM:605391 MINPP1 skos:exactMatch ncbigene:9562 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:MINPP1 semapv:UnspecifiedMatching OMIM:605392 FGFR1OP skos:exactMatch ncbigene:11116 semapv:UnspecifiedMatching OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:CEP43 semapv:UnspecifiedMatching OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:KDM5B semapv:UnspecifiedMatching @@ -19530,16 +19534,16 @@ OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:BACH2 semapv:UnspecifiedMatching OMIM:605394 BACH2 skos:exactMatch ncbigene:60468 semapv:UnspecifiedMatching OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:TMED1 semapv:UnspecifiedMatching OMIM:605395 TMED1 skos:exactMatch ncbigene:11018 semapv:UnspecifiedMatching -OMIM:605397 CD226 skos:exactMatch ncbigene:10666 semapv:UnspecifiedMatching OMIM:605397 CD226 skos:exactMatch hgnc.symbol:CD226 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch ncbigene:10666 semapv:UnspecifiedMatching OMIM:605398 CXCL16 skos:exactMatch ncbigene:58191 semapv:UnspecifiedMatching OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:CXCL16 semapv:UnspecifiedMatching OMIM:605399 NID2 skos:exactMatch hgnc.symbol:NID2 semapv:UnspecifiedMatching OMIM:605399 NID2 skos:exactMatch ncbigene:22795 semapv:UnspecifiedMatching OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:IQGAP2 semapv:UnspecifiedMatching OMIM:605401 IQGAP2 skos:exactMatch ncbigene:10788 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch hgnc.symbol:CD274 semapv:UnspecifiedMatching OMIM:605402 CD274 skos:exactMatch UMLS:C1540292 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch hgnc.symbol:CD274 semapv:UnspecifiedMatching OMIM:605402 CD274 skos:exactMatch ncbigene:29126 semapv:UnspecifiedMatching OMIM:605403 TLR6 skos:exactMatch ncbigene:10333 semapv:UnspecifiedMatching OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:TLR6 semapv:UnspecifiedMatching @@ -19564,48 +19568,48 @@ OMIM:605413 RABL2B skos:exactMatch ncbigene:11158 semapv:UnspecifiedMatching OMIM:605414 ABCA7 skos:exactMatch ncbigene:10347 semapv:UnspecifiedMatching OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:ABCA7 semapv:UnspecifiedMatching OMIM:605415 DKK2 skos:exactMatch ncbigene:27123 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:DKK2 semapv:UnspecifiedMatching OMIM:605415 DKK2 skos:exactMatch UMLS:C1414058 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:DKK2 semapv:UnspecifiedMatching OMIM:605416 DKK3 skos:exactMatch UMLS:C1414059 semapv:UnspecifiedMatching OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:DKK3 semapv:UnspecifiedMatching OMIM:605416 DKK3 skos:exactMatch ncbigene:27122 semapv:UnspecifiedMatching OMIM:605417 DKK4 skos:exactMatch UMLS:C1414060 semapv:UnspecifiedMatching OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:DKK4 semapv:UnspecifiedMatching OMIM:605417 DKK4 skos:exactMatch ncbigene:27121 semapv:UnspecifiedMatching -OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching OMIM:605418 DKKL1 skos:exactMatch ncbigene:27120 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch ncbigene:60529 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:ALX4 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1412373 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching -OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:ADAMTS9 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:ALX4 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch ncbigene:60529 semapv:UnspecifiedMatching OMIM:605421 ADAMTS9 skos:exactMatch ncbigene:56999 semapv:UnspecifiedMatching -OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:ZNF350 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:ADAMTS9 semapv:UnspecifiedMatching OMIM:605422 ZNF350 skos:exactMatch ncbigene:59348 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch ncbigene:50846 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch hgnc.symbol:DHH semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:ZNF350 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch UMLS:C1414044 semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch UMLS:C1414044 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch hgnc.symbol:DHH semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch ncbigene:50846 semapv:UnspecifiedMatching OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:MAML1 semapv:UnspecifiedMatching OMIM:605424 MAML1 skos:exactMatch ncbigene:9794 semapv:UnspecifiedMatching -OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:GJB4 semapv:UnspecifiedMatching OMIM:605425 GJB4 skos:exactMatch ncbigene:127534 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:GJB4 semapv:UnspecifiedMatching OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:TP53AIP1 semapv:UnspecifiedMatching OMIM:605426 TP53AIP1 skos:exactMatch ncbigene:63970 semapv:UnspecifiedMatching -OMIM:605427 TRPV4 skos:exactMatch ncbigene:59341 semapv:UnspecifiedMatching OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:TRPV4 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch ncbigene:59341 semapv:UnspecifiedMatching OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:SPAG9 semapv:UnspecifiedMatching OMIM:605430 SPAG9 skos:exactMatch ncbigene:9043 semapv:UnspecifiedMatching OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:MAPK8IP3 semapv:UnspecifiedMatching OMIM:605431 MAPK8IP3 skos:exactMatch ncbigene:23162 semapv:UnspecifiedMatching OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:KIF13A semapv:UnspecifiedMatching OMIM:605433 KIF13A skos:exactMatch ncbigene:63971 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch ncbigene:63967 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch UMLS:C1426354 semapv:UnspecifiedMatching OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:CLSPN semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch UMLS:C1426354 semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch ncbigene:63967 semapv:UnspecifiedMatching OMIM:605435 PRKD1 skos:exactMatch ncbigene:5587 semapv:UnspecifiedMatching OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:PRKD1 semapv:UnspecifiedMatching OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:SNORD116-1 semapv:UnspecifiedMatching @@ -19614,41 +19618,41 @@ OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:PRKCH semapv:UnspecifiedMatching OMIM:605437 PRKCH skos:exactMatch ncbigene:5583 semapv:UnspecifiedMatching OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:DLGAP2 semapv:UnspecifiedMatching OMIM:605438 DLGAP2 skos:exactMatch ncbigene:9228 semapv:UnspecifiedMatching -OMIM:605439 EHF skos:exactMatch hgnc.symbol:EHF semapv:UnspecifiedMatching OMIM:605439 EHF skos:exactMatch ncbigene:26298 semapv:UnspecifiedMatching -OMIM:605440 UBQLN4 skos:exactMatch ncbigene:56893 semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch hgnc.symbol:EHF semapv:UnspecifiedMatching OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:UBQLN4 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch ncbigene:56893 semapv:UnspecifiedMatching OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:ADIPOQ semapv:UnspecifiedMatching OMIM:605441 ADIPOQ skos:exactMatch ncbigene:9370 semapv:UnspecifiedMatching OMIM:605442 WTAP skos:exactMatch hgnc.symbol:WTAP semapv:UnspecifiedMatching OMIM:605442 WTAP skos:exactMatch ncbigene:9589 semapv:UnspecifiedMatching OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:PCGEM1 semapv:UnspecifiedMatching OMIM:605443 PCGEM1 skos:exactMatch ncbigene:64002 semapv:UnspecifiedMatching -OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:RBMXL2 semapv:UnspecifiedMatching OMIM:605444 RBMXL2 skos:exactMatch ncbigene:27288 semapv:UnspecifiedMatching -OMIM:605445 DLGAP1 skos:exactMatch ncbigene:9229 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:RBMXL2 semapv:UnspecifiedMatching OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:DLGAP1 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch ncbigene:9229 semapv:UnspecifiedMatching OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:RPGRIP1 semapv:UnspecifiedMatching OMIM:605446 RPGRIP1 skos:exactMatch ncbigene:57096 semapv:UnspecifiedMatching OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:SNHG32 semapv:UnspecifiedMatching OMIM:605447 SNHG32 skos:exactMatch ncbigene:50854 semapv:UnspecifiedMatching -OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:RUNDC3A semapv:UnspecifiedMatching OMIM:605448 RUNDC3A skos:exactMatch ncbigene:10900 semapv:UnspecifiedMatching -OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:GSTA3 semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:RUNDC3A semapv:UnspecifiedMatching OMIM:605449 GSTA3 skos:exactMatch ncbigene:2940 semapv:UnspecifiedMatching -OMIM:605450 GSTA4 skos:exactMatch ncbigene:2941 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:GSTA3 semapv:UnspecifiedMatching OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:GSTA4 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch ncbigene:2941 semapv:UnspecifiedMatching OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:PAK4 semapv:UnspecifiedMatching OMIM:605451 PAK4 skos:exactMatch ncbigene:10298 semapv:UnspecifiedMatching OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:ABCB6 semapv:UnspecifiedMatching OMIM:605452 ABCB6 skos:exactMatch ncbigene:10058 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch UMLS:C1412075 semapv:UnspecifiedMatching OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:ABCB9 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch UMLS:C1412075 semapv:UnspecifiedMatching OMIM:605453 ABCB9 skos:exactMatch ncbigene:23457 semapv:UnspecifiedMatching -OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:ABCB10 semapv:UnspecifiedMatching OMIM:605454 ABCB10 skos:exactMatch ncbigene:23456 semapv:UnspecifiedMatching -OMIM:605455 RAB26 skos:exactMatch ncbigene:25837 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:ABCB10 semapv:UnspecifiedMatching OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:RAB26 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch ncbigene:25837 semapv:UnspecifiedMatching OMIM:605456 BET1 skos:exactMatch hgnc.symbol:BET1 semapv:UnspecifiedMatching OMIM:605456 BET1 skos:exactMatch ncbigene:10282 semapv:UnspecifiedMatching OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:IL22RA1 semapv:UnspecifiedMatching @@ -19657,19 +19661,19 @@ OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:IL17RB semapv:UnspecifiedMatching OMIM:605458 IL17RB skos:exactMatch ncbigene:55540 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch ncbigene:64240 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:ABCG5 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch UMLS:C1422255 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch UMLS:C1422255 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C1422256 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C1969115 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:ABCG8 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch ncbigene:64241 semapv:UnspecifiedMatching -OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching OMIM:605461 IL17RA skos:exactMatch ncbigene:23765 semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch ncbigene:11194 semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:ABCB8 semapv:UnspecifiedMatching -OMIM:605465 ZNF277 skos:exactMatch ncbigene:11179 semapv:UnspecifiedMatching OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:ZNF277 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch ncbigene:11179 semapv:UnspecifiedMatching OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:SIRPG semapv:UnspecifiedMatching OMIM:605466 SIRPG skos:exactMatch ncbigene:55423 semapv:UnspecifiedMatching OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:ZNF274 semapv:UnspecifiedMatching @@ -19678,60 +19682,60 @@ OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:CDC42EP4 semapv:UnspecifiedMatc OMIM:605468 CDC42EP4 skos:exactMatch ncbigene:23580 semapv:UnspecifiedMatching OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:KDM4C semapv:UnspecifiedMatching OMIM:605469 KDM4C skos:exactMatch ncbigene:23081 semapv:UnspecifiedMatching -OMIM:605470 MMP26 skos:exactMatch ncbigene:56547 semapv:UnspecifiedMatching OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:MMP26 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch ncbigene:56547 semapv:UnspecifiedMatching OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:ZFYVE1 semapv:UnspecifiedMatching OMIM:605471 ZFYVE1 skos:exactMatch ncbigene:53349 semapv:UnspecifiedMatching OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:UBQLN3 semapv:UnspecifiedMatching OMIM:605473 UBQLN3 skos:exactMatch ncbigene:50613 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch UMLS:C1423633 semapv:UnspecifiedMatching OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:TLR9 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch UMLS:C1423633 semapv:UnspecifiedMatching OMIM:605474 TLR9 skos:exactMatch ncbigene:54106 semapv:UnspecifiedMatching OMIM:605475 BAIAP2 skos:exactMatch ncbigene:10458 semapv:UnspecifiedMatching OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:BAIAP2 semapv:UnspecifiedMatching -OMIM:605476 AGAP2 skos:exactMatch ncbigene:116986 semapv:UnspecifiedMatching OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:AGAP2 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch ncbigene:116986 semapv:UnspecifiedMatching OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:ARHGEF7 semapv:UnspecifiedMatching OMIM:605477 ARHGEF7 skos:exactMatch ncbigene:8874 semapv:UnspecifiedMatching OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:SIGIRR semapv:UnspecifiedMatching OMIM:605478 SIGIRR skos:exactMatch ncbigene:59307 semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch hgnc.symbol:ASPM semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch ncbigene:259266 semapv:UnspecifiedMatching -OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:GSTO1 semapv:UnspecifiedMatching OMIM:605482 GSTO1 skos:exactMatch ncbigene:9446 semapv:UnspecifiedMatching -OMIM:605483 DNAI2 skos:exactMatch ncbigene:64446 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:GSTO1 semapv:UnspecifiedMatching OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:DNAI2 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch ncbigene:64446 semapv:UnspecifiedMatching OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:FCAMR semapv:UnspecifiedMatching OMIM:605484 FCAMR skos:exactMatch ncbigene:83953 semapv:UnspecifiedMatching OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:VPS41 semapv:UnspecifiedMatching OMIM:605485 VPS41 skos:exactMatch ncbigene:27072 semapv:UnspecifiedMatching OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:ARPP19 semapv:UnspecifiedMatching OMIM:605487 ARPP19 skos:exactMatch ncbigene:10776 semapv:UnspecifiedMatching -OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:ARPP21 semapv:UnspecifiedMatching OMIM:605488 ARPP21 skos:exactMatch ncbigene:10777 semapv:UnspecifiedMatching -OMIM:605489 IFT81 skos:exactMatch ncbigene:28981 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:ARPP21 semapv:UnspecifiedMatching OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:IFT81 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch ncbigene:28981 semapv:UnspecifiedMatching OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:LONP1 semapv:UnspecifiedMatching OMIM:605490 LONP1 skos:exactMatch ncbigene:9361 semapv:UnspecifiedMatching OMIM:605491 NEBL skos:exactMatch hgnc.symbol:NEBL semapv:UnspecifiedMatching OMIM:605491 NEBL skos:exactMatch ncbigene:10529 semapv:UnspecifiedMatching OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:LRRN2 semapv:UnspecifiedMatching OMIM:605492 LRRN2 skos:exactMatch ncbigene:10446 semapv:UnspecifiedMatching -OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:TRIM3 semapv:UnspecifiedMatching OMIM:605493 TRIM3 skos:exactMatch ncbigene:10612 semapv:UnspecifiedMatching -OMIM:605494 ITGB3BP skos:exactMatch ncbigene:23421 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:TRIM3 semapv:UnspecifiedMatching OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:ITGB3BP semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch ncbigene:23421 semapv:UnspecifiedMatching OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:SLCO1B3 semapv:UnspecifiedMatching OMIM:605495 SLCO1B3 skos:exactMatch ncbigene:28234 semapv:UnspecifiedMatching OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:CNTRL semapv:UnspecifiedMatching OMIM:605496 CEP1 skos:exactMatch ncbigene:11064 semapv:UnspecifiedMatching -OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:CRTAP semapv:UnspecifiedMatching OMIM:605497 CRTAP skos:exactMatch ncbigene:10491 semapv:UnspecifiedMatching -OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:KIF20B semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:CRTAP semapv:UnspecifiedMatching OMIM:605498 MPHOSPH1 skos:exactMatch ncbigene:9585 semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:KIF20B semapv:UnspecifiedMatching OMIM:605499 zw10 interactor, antisense skos:exactMatch UMLS:C1421870 semapv:UnspecifiedMatching -OMIM:605500 MPHOSPH6 skos:exactMatch ncbigene:10200 semapv:UnspecifiedMatching OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:MPHOSPH6 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch ncbigene:10200 semapv:UnspecifiedMatching OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:MPHOSPH9 semapv:UnspecifiedMatching OMIM:605501 MPHOSPH9 skos:exactMatch ncbigene:10198 semapv:UnspecifiedMatching OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:DNAJC2 semapv:UnspecifiedMatching @@ -19744,31 +19748,31 @@ OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:KLK13 semapv:UnspecifiedMatching OMIM:605505 KLK13 skos:exactMatch ncbigene:26085 semapv:UnspecifiedMatching OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:VPS26A semapv:UnspecifiedMatching OMIM:605506 VPS26A skos:exactMatch ncbigene:9559 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch UMLS:C1423573 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:IL36RN semapv:UnspecifiedMatching OMIM:605507 IL36RN skos:exactMatch ncbigene:26525 semapv:UnspecifiedMatching -OMIM:605508 IL36B skos:exactMatch ncbigene:27177 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch UMLS:C1423573 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching OMIM:605508 IL36B skos:exactMatch hgnc.symbol:IL36B semapv:UnspecifiedMatching -OMIM:605509 IL36A skos:exactMatch ncbigene:27179 semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch ncbigene:27177 semapv:UnspecifiedMatching OMIM:605509 IL36A skos:exactMatch hgnc.symbol:IL36A semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch ncbigene:27179 semapv:UnspecifiedMatching OMIM:605510 IL37 skos:exactMatch hgnc.symbol:IL37 semapv:UnspecifiedMatching OMIM:605510 IL37 skos:exactMatch ncbigene:27178 semapv:UnspecifiedMatching OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:TMPRSS3 semapv:UnspecifiedMatching OMIM:605511 TMPRSS3 skos:exactMatch ncbigene:64699 semapv:UnspecifiedMatching -OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:ELOVL4 semapv:UnspecifiedMatching OMIM:605512 ELOVL4 skos:exactMatch ncbigene:6785 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:ELOVL4 semapv:UnspecifiedMatching OMIM:605513 MLANA skos:exactMatch hgnc.symbol:MLANA semapv:UnspecifiedMatching OMIM:605513 MLANA skos:exactMatch ncbigene:2315 semapv:UnspecifiedMatching -OMIM:605514 PCDH15 skos:exactMatch ncbigene:65217 semapv:UnspecifiedMatching OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:PCDH15 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch ncbigene:65217 semapv:UnspecifiedMatching OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:FOXP1 semapv:UnspecifiedMatching OMIM:605515 FOXP1 skos:exactMatch ncbigene:27086 semapv:UnspecifiedMatching OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:CDH23 semapv:UnspecifiedMatching OMIM:605516 CDH23 skos:exactMatch ncbigene:64072 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch UMLS:C1423631 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch UMLS:C3809042 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:B4GAT1 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch UMLS:C1423631 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch ncbigene:11041 semapv:UnspecifiedMatching OMIM:605518 LPIN1 skos:exactMatch ncbigene:23175 semapv:UnspecifiedMatching OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:LPIN1 semapv:UnspecifiedMatching @@ -19780,8 +19784,8 @@ OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:TBPL1 semapv:UnspecifiedMatching OMIM:605521 TBPL1 skos:exactMatch ncbigene:9519 semapv:UnspecifiedMatching OMIM:605522 LMBR1 skos:exactMatch ncbigene:64327 semapv:UnspecifiedMatching OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:LMBR1 semapv:UnspecifiedMatching -OMIM:605523 TOB1 skos:exactMatch ncbigene:10140 semapv:UnspecifiedMatching OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:TOB1 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch ncbigene:10140 semapv:UnspecifiedMatching OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:CDT1 semapv:UnspecifiedMatching OMIM:605525 CDT1 skos:exactMatch ncbigene:81620 semapv:UnspecifiedMatching OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:MAT2B semapv:UnspecifiedMatching @@ -19791,100 +19795,100 @@ OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:NEU2 semapv:UnspecifiedMatching OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:UPF2 semapv:UnspecifiedMatching OMIM:605529 UPF2 skos:exactMatch ncbigene:26019 semapv:UnspecifiedMatching OMIM:605529 UPF2 skos:exactMatch UMLS:C1425133 semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch UMLS:C1426867 semapv:UnspecifiedMatching OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:UPF3A semapv:UnspecifiedMatching OMIM:605530 UPF3A skos:exactMatch ncbigene:65110 semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch UMLS:C1426867 semapv:UnspecifiedMatching OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:SMURF2 semapv:UnspecifiedMatching OMIM:605532 SMURF2 skos:exactMatch ncbigene:64750 semapv:UnspecifiedMatching OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:NRG3 semapv:UnspecifiedMatching OMIM:605533 NRG3 skos:exactMatch ncbigene:10718 semapv:UnspecifiedMatching OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:HMG20A semapv:UnspecifiedMatching OMIM:605534 HMG20A skos:exactMatch ncbigene:10363 semapv:UnspecifiedMatching -OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:HMG20B semapv:UnspecifiedMatching OMIM:605535 HMG20B skos:exactMatch ncbigene:10362 semapv:UnspecifiedMatching -OMIM:605536 RAB11FIP5 skos:exactMatch ncbigene:26056 semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:HMG20B semapv:UnspecifiedMatching OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:RAB11FIP5 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch ncbigene:26056 semapv:UnspecifiedMatching OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:ATF6 semapv:UnspecifiedMatching OMIM:605537 ATF6 skos:exactMatch ncbigene:22926 semapv:UnspecifiedMatching OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:NTSR2 semapv:UnspecifiedMatching OMIM:605538 NTSR2 skos:exactMatch ncbigene:23620 semapv:UnspecifiedMatching -OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:KLK12 semapv:UnspecifiedMatching OMIM:605539 KLK12 skos:exactMatch ncbigene:43849 semapv:UnspecifiedMatching -OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:TENT4B semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:KLK12 semapv:UnspecifiedMatching OMIM:605540 TENT4B skos:exactMatch ncbigene:64282 semapv:UnspecifiedMatching -OMIM:605541 VAV3 skos:exactMatch ncbigene:10451 semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:TENT4B semapv:UnspecifiedMatching OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:VAV3 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch ncbigene:10451 semapv:UnspecifiedMatching OMIM:605542 IL36G skos:exactMatch hgnc.symbol:IL36G semapv:UnspecifiedMatching OMIM:605542 IL36G skos:exactMatch ncbigene:56300 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch hgnc.symbol:CD163 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch ncbigene:9332 semapv:UnspecifiedMatching OMIM:605546 GP6 skos:exactMatch hgnc.symbol:GP6 semapv:UnspecifiedMatching OMIM:605546 GP6 skos:exactMatch ncbigene:51206 semapv:UnspecifiedMatching -OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:FSTL1 semapv:UnspecifiedMatching OMIM:605547 FSTL1 skos:exactMatch ncbigene:11167 semapv:UnspecifiedMatching -OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:FSTL1 semapv:UnspecifiedMatching OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:ADAM15 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:RASD1 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch ncbigene:51655 semapv:UnspecifiedMatching OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:NOS1AP semapv:UnspecifiedMatching OMIM:605551 NOS1AP skos:exactMatch ncbigene:9722 semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:PAPOLA semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch ncbigene:10914 semapv:UnspecifiedMatching -OMIM:605554 CD244 skos:exactMatch hgnc.symbol:CD244 semapv:UnspecifiedMatching OMIM:605554 CD244 skos:exactMatch ncbigene:51744 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch hgnc.symbol:AIP semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch ncbigene:9049 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch UMLS:C4540568 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch hgnc.symbol:CD244 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C1412302 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C1863340 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C4538355 semapv:UnspecifiedMatching -OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:SLC4A10 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch UMLS:C4540568 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch hgnc.symbol:AIP semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch ncbigene:9049 semapv:UnspecifiedMatching OMIM:605556 SLC4A10 skos:exactMatch ncbigene:57282 semapv:UnspecifiedMatching -OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:PRDM16 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:SLC4A10 semapv:UnspecifiedMatching OMIM:605557 PRDM16 skos:exactMatch ncbigene:63976 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:PRDM16 semapv:UnspecifiedMatching OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:FGF20 semapv:UnspecifiedMatching OMIM:605558 FGF20 skos:exactMatch ncbigene:26281 semapv:UnspecifiedMatching -OMIM:605559 HOXC11 skos:exactMatch ncbigene:3227 semapv:UnspecifiedMatching OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:HOXC11 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch ncbigene:3227 semapv:UnspecifiedMatching OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:HOXC10 semapv:UnspecifiedMatching OMIM:605560 HOXC10 skos:exactMatch ncbigene:3226 semapv:UnspecifiedMatching -OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:PKP3 semapv:UnspecifiedMatching OMIM:605561 PKP3 skos:exactMatch ncbigene:11187 semapv:UnspecifiedMatching -OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:SCGB2A2 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:PKP3 semapv:UnspecifiedMatching OMIM:605562 SCGB2A2 skos:exactMatch ncbigene:4250 semapv:UnspecifiedMatching -OMIM:605563 CABP1 skos:exactMatch ncbigene:9478 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:SCGB2A2 semapv:UnspecifiedMatching OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:CABP1 semapv:UnspecifiedMatching -OMIM:605564 CIB2 skos:exactMatch ncbigene:10518 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch ncbigene:9478 semapv:UnspecifiedMatching OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:CIB2 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch ncbigene:10518 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C1426906 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C1854174 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch hgnc.symbol:RETN semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch ncbigene:56729 semapv:UnspecifiedMatching -OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:RTN4R semapv:UnspecifiedMatching OMIM:605566 RTN4R skos:exactMatch ncbigene:65078 semapv:UnspecifiedMatching -OMIM:605567 SIVA1 skos:exactMatch ncbigene:10572 semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:RTN4R semapv:UnspecifiedMatching OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:SIVA1 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch ncbigene:10572 semapv:UnspecifiedMatching OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:SMURF1 semapv:UnspecifiedMatching OMIM:605568 SMURF1 skos:exactMatch ncbigene:57154 semapv:UnspecifiedMatching OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:GPR83 semapv:UnspecifiedMatching OMIM:605569 GPR83 skos:exactMatch ncbigene:10888 semapv:UnspecifiedMatching OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:RAB11A semapv:UnspecifiedMatching OMIM:605570 RAB11A skos:exactMatch ncbigene:8766 semapv:UnspecifiedMatching -OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching OMIM:605571 PIWIL1 skos:exactMatch ncbigene:9271 semapv:UnspecifiedMatching -OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:HSD17B3 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:UBE2C semapv:UnspecifiedMatching OMIM:605574 UBE2C skos:exactMatch ncbigene:11065 semapv:UnspecifiedMatching OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:SMC4 semapv:UnspecifiedMatching OMIM:605575 SMC4 skos:exactMatch ncbigene:10051 semapv:UnspecifiedMatching OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:SMC2 semapv:UnspecifiedMatching OMIM:605576 SMC2 skos:exactMatch ncbigene:10592 semapv:UnspecifiedMatching -OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:RASGRP2 semapv:UnspecifiedMatching OMIM:605577 RASGRP2 skos:exactMatch ncbigene:10235 semapv:UnspecifiedMatching -OMIM:605578 IFITM2 skos:exactMatch ncbigene:10581 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:RASGRP2 semapv:UnspecifiedMatching OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:IFITM2 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch ncbigene:10581 semapv:UnspecifiedMatching OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:IFITM3 semapv:UnspecifiedMatching OMIM:605579 IFITM3 skos:exactMatch ncbigene:10410 semapv:UnspecifiedMatching OMIM:605580 IL23A skos:exactMatch hgnc.symbol:IL23A semapv:UnspecifiedMatching @@ -19893,34 +19897,34 @@ OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:B3GNT2 semapv:UnspecifiedMatching OMIM:605581 B3GNT2 skos:exactMatch ncbigene:10678 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch ncbigene:9785 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:DHX38 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch UMLS:C1424825 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:CDC40 semapv:UnspecifiedMatching OMIM:605585 CDC40 skos:exactMatch ncbigene:51362 semapv:UnspecifiedMatching OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:IPO7 semapv:UnspecifiedMatching OMIM:605586 IPO7 skos:exactMatch ncbigene:10527 semapv:UnspecifiedMatching OMIM:605587 PI14 skos:exactMatch hgnc.symbol:SERPINI2 semapv:UnspecifiedMatching OMIM:605587 PI14 skos:exactMatch ncbigene:5276 semapv:UnspecifiedMatching -OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching +OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch ncbigene:23451 semapv:UnspecifiedMatching OMIM:605590 SF3B1 skos:exactMatch UMLS:C1419980 semapv:UnspecifiedMatching OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:SF3B1 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch ncbigene:23451 semapv:UnspecifiedMatching OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:SF3B2 semapv:UnspecifiedMatching OMIM:605591 SF3B2 skos:exactMatch ncbigene:10992 semapv:UnspecifiedMatching OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:SF3B3 semapv:UnspecifiedMatching OMIM:605592 SF3B3 skos:exactMatch ncbigene:23450 semapv:UnspecifiedMatching OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:SF3B4 semapv:UnspecifiedMatching OMIM:605593 SF3B4 skos:exactMatch ncbigene:10262 semapv:UnspecifiedMatching -OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:SF3A1 semapv:UnspecifiedMatching OMIM:605595 SF3A1 skos:exactMatch ncbigene:10291 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:SF3A1 semapv:UnspecifiedMatching OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:SF3A3 semapv:UnspecifiedMatching OMIM:605596 SF3A3 skos:exactMatch ncbigene:10946 semapv:UnspecifiedMatching -OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:FOXL2 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching OMIM:605598 iia 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching -OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:LYPLA1 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:IPO8 semapv:UnspecifiedMatching OMIM:605600 IPO8 skos:exactMatch ncbigene:10526 semapv:UnspecifiedMatching OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:PRG2 semapv:UnspecifiedMatching @@ -19929,22 +19933,22 @@ OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:MYOZ2 semapv:UnspecifiedMatching OMIM:605602 MYOZ2 skos:exactMatch ncbigene:51778 semapv:UnspecifiedMatching OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:MYOZ1 semapv:UnspecifiedMatching OMIM:605603 MYOZ1 skos:exactMatch ncbigene:58529 semapv:UnspecifiedMatching -OMIM:605604 PAIP2 skos:exactMatch ncbigene:51247 semapv:UnspecifiedMatching OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:PAIP2 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch ncbigene:51247 semapv:UnspecifiedMatching OMIM:605607 CENPH skos:exactMatch hgnc.symbol:CENPH semapv:UnspecifiedMatching OMIM:605607 CENPH skos:exactMatch ncbigene:64946 semapv:UnspecifiedMatching -OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:CLDN14 semapv:UnspecifiedMatching OMIM:605608 CLDN14 skos:exactMatch ncbigene:23562 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch UMLS:C1423755 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:CLDN14 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:OXR1 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch UMLS:C1423755 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch ncbigene:55074 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch hgnc.symbol:PNKP semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch ncbigene:11284 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch hgnc.symbol:PNKP semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C1418707 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:SH3BP4 semapv:UnspecifiedMatching OMIM:605611 SH3BP4 skos:exactMatch ncbigene:23677 semapv:UnspecifiedMatching OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:SH3BP5 semapv:UnspecifiedMatching @@ -19954,188 +19958,188 @@ OMIM:605613 HIP1R skos:exactMatch ncbigene:9026 semapv:UnspecifiedMatching OMIM:605614 GCN1 skos:exactMatch UMLS:C1415018 semapv:UnspecifiedMatching OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:GCN1 semapv:UnspecifiedMatching OMIM:605614 GCN1 skos:exactMatch ncbigene:10985 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch UMLS:C1412534 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:ARIH2 semapv:UnspecifiedMatching OMIM:605615 ARIH2 skos:exactMatch ncbigene:10425 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:ARIH2 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch UMLS:C1412534 semapv:UnspecifiedMatching OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:SLC6A20 semapv:UnspecifiedMatching OMIM:605616 SLC6A20 skos:exactMatch ncbigene:54716 semapv:UnspecifiedMatching -OMIM:605619 IL20 skos:exactMatch ncbigene:50604 semapv:UnspecifiedMatching OMIM:605619 IL20 skos:exactMatch hgnc.symbol:IL20 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch ncbigene:50604 semapv:UnspecifiedMatching OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:IL20RA semapv:UnspecifiedMatching OMIM:605620 IL20RA skos:exactMatch ncbigene:53832 semapv:UnspecifiedMatching OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:IL20RB semapv:UnspecifiedMatching OMIM:605621 IL20RB skos:exactMatch ncbigene:53833 semapv:UnspecifiedMatching -OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:PCDH12 semapv:UnspecifiedMatching OMIM:605622 PCDH12 skos:exactMatch ncbigene:51294 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:PCDH12 semapv:UnspecifiedMatching OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:MKLN1 semapv:UnspecifiedMatching OMIM:605623 MKLN1 skos:exactMatch ncbigene:4289 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch ncbigene:25820 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:ARIH1 semapv:UnspecifiedMatching OMIM:605624 ARIH1 skos:exactMatch UMLS:C1412533 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:ARIH1 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch ncbigene:25820 semapv:UnspecifiedMatching OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:MYEOV semapv:UnspecifiedMatching OMIM:605625 MYEOV skos:exactMatch ncbigene:26579 semapv:UnspecifiedMatching OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:ERVK-6 semapv:UnspecifiedMatching OMIM:605626 ERVK-6 skos:exactMatch ncbigene:64006 semapv:UnspecifiedMatching -OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:HTATIP2 semapv:UnspecifiedMatching OMIM:605628 HTATIP2 skos:exactMatch ncbigene:10553 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:HTATIP2 semapv:UnspecifiedMatching OMIM:605629 CIT skos:exactMatch hgnc.symbol:CIT semapv:UnspecifiedMatching OMIM:605629 CIT skos:exactMatch ncbigene:11113 semapv:UnspecifiedMatching -OMIM:605630 PLA2G2D skos:exactMatch ncbigene:26279 semapv:UnspecifiedMatching OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:PLA2G2D semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch ncbigene:26279 semapv:UnspecifiedMatching OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:NAPSA semapv:UnspecifiedMatching OMIM:605631 NAPSA skos:exactMatch ncbigene:9476 semapv:UnspecifiedMatching OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:SLC35A3 semapv:UnspecifiedMatching OMIM:605632 SLC35A3 skos:exactMatch ncbigene:23443 semapv:UnspecifiedMatching -OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:MUC3B semapv:UnspecifiedMatching OMIM:605633 MUC3B skos:exactMatch ncbigene:57876 semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:MUC3B semapv:UnspecifiedMatching OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:SLC35A1 semapv:UnspecifiedMatching OMIM:605634 SLC35A1 skos:exactMatch ncbigene:10559 semapv:UnspecifiedMatching -OMIM:605636 MEG3 skos:exactMatch ncbigene:55384 semapv:UnspecifiedMatching OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:MEG3 semapv:UnspecifiedMatching -OMIM:605637 myopathy, proximal, with ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching -OMIM:605637 myopathy, proximal, with ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching -OMIM:605637 myopathy, proximal, with ophthalmoplegia skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch ncbigene:55384 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:BIRC6 semapv:UnspecifiedMatching OMIM:605638 BIRC6 skos:exactMatch ncbigene:57448 semapv:UnspecifiedMatching -OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:SIGLEC8 semapv:UnspecifiedMatching OMIM:605639 SIGLEC8 skos:exactMatch ncbigene:27181 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:SIGLEC8 semapv:UnspecifiedMatching OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:SIGLEC9 semapv:UnspecifiedMatching OMIM:605640 SIGLEC9 skos:exactMatch ncbigene:27180 semapv:UnspecifiedMatching -OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:SLC7A6 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:KLK5 semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch ncbigene:25818 semapv:UnspecifiedMatching OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:KLK8 semapv:UnspecifiedMatching OMIM:605644 KLK8 skos:exactMatch ncbigene:11202 semapv:UnspecifiedMatching -OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:RETNLB semapv:UnspecifiedMatching OMIM:605645 RETNLB skos:exactMatch ncbigene:84666 semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:RETNLB semapv:UnspecifiedMatching OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:SLC26A4 semapv:UnspecifiedMatching OMIM:605646 SLC26A4 skos:exactMatch ncbigene:5172 semapv:UnspecifiedMatching -OMIM:605647 FBXO6 skos:exactMatch ncbigene:26270 semapv:UnspecifiedMatching OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:FBXO6 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch ncbigene:26270 semapv:UnspecifiedMatching OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:FBXO7 semapv:UnspecifiedMatching OMIM:605648 FBXO7 skos:exactMatch ncbigene:25793 semapv:UnspecifiedMatching OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:FBXO8 semapv:UnspecifiedMatching OMIM:605649 FBXO8 skos:exactMatch ncbigene:26269 semapv:UnspecifiedMatching -OMIM:605650 POLK skos:exactMatch hgnc.symbol:POLK semapv:UnspecifiedMatching OMIM:605650 POLK skos:exactMatch ncbigene:51426 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch ncbigene:23291 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:FBXW11 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854075 semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch hgnc.symbol:POLK semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C1539505 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854075 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854076 semapv:UnspecifiedMatching -OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:FBXL2 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:FBXW11 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch ncbigene:23291 semapv:UnspecifiedMatching OMIM:605652 FBXL2 skos:exactMatch ncbigene:25827 semapv:UnspecifiedMatching -OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:FBXL3 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:FBXL2 semapv:UnspecifiedMatching OMIM:605653 FBXL3 skos:exactMatch ncbigene:26224 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:FBXL3 semapv:UnspecifiedMatching OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:FBXL4 semapv:UnspecifiedMatching OMIM:605654 FBXL4 skos:exactMatch ncbigene:26235 semapv:UnspecifiedMatching -OMIM:605655 FBXL5 skos:exactMatch ncbigene:26234 semapv:UnspecifiedMatching OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:FBXL5 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch ncbigene:26234 semapv:UnspecifiedMatching OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:FBXL7 semapv:UnspecifiedMatching OMIM:605656 FBXL7 skos:exactMatch ncbigene:23194 semapv:UnspecifiedMatching OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:KDM2A semapv:UnspecifiedMatching OMIM:605657 KDM2A skos:exactMatch ncbigene:22992 semapv:UnspecifiedMatching OMIM:605658 IL25 skos:exactMatch hgnc.symbol:IL25 semapv:UnspecifiedMatching OMIM:605658 IL25 skos:exactMatch ncbigene:64806 semapv:UnspecifiedMatching -OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:CLEC2D semapv:UnspecifiedMatching OMIM:605659 CLEC2D skos:exactMatch ncbigene:29121 semapv:UnspecifiedMatching -OMIM:605660 PFDN6 skos:exactMatch ncbigene:10471 semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:CLEC2D semapv:UnspecifiedMatching OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:PFDN6 semapv:UnspecifiedMatching -OMIM:605661 TRIM13 skos:exactMatch ncbigene:10206 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch ncbigene:10471 semapv:UnspecifiedMatching OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:TRIM13 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch ncbigene:10206 semapv:UnspecifiedMatching OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:RAB36 semapv:UnspecifiedMatching OMIM:605662 RAB36 skos:exactMatch ncbigene:9609 semapv:UnspecifiedMatching OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:RSPH14 semapv:UnspecifiedMatching OMIM:605663 RSPH14 skos:exactMatch ncbigene:27156 semapv:UnspecifiedMatching -OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:KIF20A semapv:UnspecifiedMatching OMIM:605664 KIF20A skos:exactMatch ncbigene:10112 semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:KIF20A semapv:UnspecifiedMatching OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:CYSLTR2 semapv:UnspecifiedMatching OMIM:605666 CYSLTR2 skos:exactMatch ncbigene:57105 semapv:UnspecifiedMatching -OMIM:605667 RGL1 skos:exactMatch ncbigene:23179 semapv:UnspecifiedMatching OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:RGL1 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch ncbigene:23179 semapv:UnspecifiedMatching OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:BACE2 semapv:UnspecifiedMatching OMIM:605668 BACE2 skos:exactMatch ncbigene:25825 semapv:UnspecifiedMatching OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:PBOV1 semapv:UnspecifiedMatching OMIM:605669 PBOV1 skos:exactMatch ncbigene:59351 semapv:UnspecifiedMatching -OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:DMXL1 semapv:UnspecifiedMatching OMIM:605671 DMXL1 skos:exactMatch ncbigene:1657 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch ncbigene:54766 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:BTG4 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:DMXL1 semapv:UnspecifiedMatching OMIM:605673 BTG4 skos:exactMatch UMLS:C1422240 semapv:UnspecifiedMatching OMIM:605673 BTG4 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:BTG4 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch ncbigene:54766 semapv:UnspecifiedMatching OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:BTG3 semapv:UnspecifiedMatching OMIM:605674 BTG3 skos:exactMatch ncbigene:10950 semapv:UnspecifiedMatching -OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:RNF14 semapv:UnspecifiedMatching OMIM:605675 RNF14 skos:exactMatch ncbigene:9604 semapv:UnspecifiedMatching -OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:ACSL5 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:RNF14 semapv:UnspecifiedMatching OMIM:605677 ACSL5 skos:exactMatch ncbigene:51703 semapv:UnspecifiedMatching -OMIM:605678 MLXIPL skos:exactMatch ncbigene:51085 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:ACSL5 semapv:UnspecifiedMatching OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:MLXIPL semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch ncbigene:51085 semapv:UnspecifiedMatching OMIM:605679 IL26 skos:exactMatch hgnc.symbol:IL26 semapv:UnspecifiedMatching OMIM:605679 IL26 skos:exactMatch ncbigene:55801 semapv:UnspecifiedMatching OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:BAZ1A semapv:UnspecifiedMatching OMIM:605680 BAZ1A skos:exactMatch ncbigene:11177 semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch UMLS:C1412742 semapv:UnspecifiedMatching OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:BAZ1B semapv:UnspecifiedMatching OMIM:605681 BAZ1B skos:exactMatch ncbigene:9031 semapv:UnspecifiedMatching -OMIM:605682 BAZ2A skos:exactMatch ncbigene:11176 semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch UMLS:C1412742 semapv:UnspecifiedMatching OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:BAZ2A semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch ncbigene:11176 semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch UMLS:C1412744 semapv:UnspecifiedMatching OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:BAZ2B semapv:UnspecifiedMatching OMIM:605683 BAZ2B skos:exactMatch ncbigene:29994 semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch UMLS:C1412744 semapv:UnspecifiedMatching -OMIM:605684 TRIM34 skos:exactMatch ncbigene:53840 semapv:UnspecifiedMatching OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:TRIM34 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch ncbigene:53840 semapv:UnspecifiedMatching OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:CADM1 semapv:UnspecifiedMatching OMIM:605686 CADM1 skos:exactMatch ncbigene:23705 semapv:UnspecifiedMatching -OMIM:605687 IL19 skos:exactMatch hgnc.symbol:IL19 semapv:UnspecifiedMatching OMIM:605687 IL19 skos:exactMatch ncbigene:29949 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch hgnc.symbol:IL19 semapv:UnspecifiedMatching OMIM:605688 CPNE6 skos:exactMatch UMLS:C1413680 semapv:UnspecifiedMatching OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:CPNE6 semapv:UnspecifiedMatching OMIM:605688 CPNE6 skos:exactMatch ncbigene:9362 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch UMLS:C1332778 semapv:UnspecifiedMatching OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:CPNE7 semapv:UnspecifiedMatching OMIM:605689 CPNE7 skos:exactMatch ncbigene:27132 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch UMLS:C1332778 semapv:UnspecifiedMatching -OMIM:605690 BICRA skos:exactMatch hgnc.symbol:BICRA semapv:UnspecifiedMatching OMIM:605690 BICRA skos:exactMatch ncbigene:29998 semapv:UnspecifiedMatching -OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:NOP53 semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch hgnc.symbol:BICRA semapv:UnspecifiedMatching OMIM:605691 NOP53 skos:exactMatch ncbigene:29997 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:NOP53 semapv:UnspecifiedMatching OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:TRPM7 semapv:UnspecifiedMatching OMIM:605692 TRPM7 skos:exactMatch ncbigene:54822 semapv:UnspecifiedMatching -OMIM:605693 RAB30 skos:exactMatch ncbigene:27314 semapv:UnspecifiedMatching OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:RAB30 semapv:UnspecifiedMatching -OMIM:605694 RAB31 skos:exactMatch ncbigene:11031 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch ncbigene:27314 semapv:UnspecifiedMatching OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:RAB31 semapv:UnspecifiedMatching -OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:BLOC1S4 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch ncbigene:11031 semapv:UnspecifiedMatching OMIM:605695 BLOC1S4 skos:exactMatch ncbigene:55330 semapv:UnspecifiedMatching -OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:KCNG2 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:BLOC1S4 semapv:UnspecifiedMatching OMIM:605696 KCNG2 skos:exactMatch ncbigene:26251 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:KCNG2 semapv:UnspecifiedMatching OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:ULBP1 semapv:UnspecifiedMatching OMIM:605697 ULBP1 skos:exactMatch ncbigene:80329 semapv:UnspecifiedMatching OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:ULBP2 semapv:UnspecifiedMatching OMIM:605698 ULBP2 skos:exactMatch ncbigene:80328 semapv:UnspecifiedMatching -OMIM:605699 ULBP3 skos:exactMatch ncbigene:79465 semapv:UnspecifiedMatching OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:ULBP3 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch ncbigene:79465 semapv:UnspecifiedMatching OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:TRIM39 semapv:UnspecifiedMatching OMIM:605700 TRIM39 skos:exactMatch ncbigene:56658 semapv:UnspecifiedMatching -OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:TRIM10 semapv:UnspecifiedMatching OMIM:605701 TRIM10 skos:exactMatch ncbigene:10107 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:TRIM10 semapv:UnspecifiedMatching OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:LYVE1 semapv:UnspecifiedMatching OMIM:605702 LYVE1 skos:exactMatch ncbigene:10894 semapv:UnspecifiedMatching OMIM:605703 VAPA skos:exactMatch hgnc.symbol:VAPA semapv:UnspecifiedMatching OMIM:605703 VAPA skos:exactMatch ncbigene:9218 semapv:UnspecifiedMatching -OMIM:605704 VAPB skos:exactMatch ncbigene:9217 semapv:UnspecifiedMatching OMIM:605704 VAPB skos:exactMatch hgnc.symbol:VAPB semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch ncbigene:9217 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch ncbigene:150094 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:SIK1 semapv:UnspecifiedMatching OMIM:605705 SIK1 skos:exactMatch UMLS:C1420279 semapv:UnspecifiedMatching OMIM:605705 SIK1 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:SIK1 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch ncbigene:150094 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:RIPK4 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch ncbigene:54101 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch UMLS:C1538842 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:RIPK4 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch ncbigene:54101 semapv:UnspecifiedMatching OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:ARHGEF11 semapv:UnspecifiedMatching OMIM:605708 ARHGEF11 skos:exactMatch ncbigene:9826 semapv:UnspecifiedMatching OMIM:605709 ARL6IP5 skos:exactMatch UMLS:C1538931 semapv:UnspecifiedMatching @@ -20143,117 +20147,117 @@ OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:ARL6IP5 semapv:UnspecifiedMatchi OMIM:605709 ARL6IP5 skos:exactMatch ncbigene:10550 semapv:UnspecifiedMatching OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:GFRA3 semapv:UnspecifiedMatching OMIM:605710 GFRA3 skos:exactMatch ncbigene:2676 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:SPTLC1 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch ncbigene:10558 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5231533 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:SPTLC1 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C1420390 semapv:UnspecifiedMatching -OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:SPTLC2 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch ncbigene:10558 semapv:UnspecifiedMatching OMIM:605713 SPTLC2 skos:exactMatch ncbigene:9517 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:SPTLC2 semapv:UnspecifiedMatching OMIM:605715 CD276 skos:exactMatch hgnc.symbol:CD276 semapv:UnspecifiedMatching OMIM:605715 CD276 skos:exactMatch ncbigene:80381 semapv:UnspecifiedMatching OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:KCNH5 semapv:UnspecifiedMatching OMIM:605716 KCNH5 skos:exactMatch ncbigene:27133 semapv:UnspecifiedMatching -OMIM:605717 ICOSLG skos:exactMatch ncbigene:23308 semapv:UnspecifiedMatching OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:ICOSLG semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch ncbigene:23308 semapv:UnspecifiedMatching OMIM:605718 MED4 skos:exactMatch hgnc.symbol:MED4 semapv:UnspecifiedMatching OMIM:605718 MED4 skos:exactMatch ncbigene:29079 semapv:UnspecifiedMatching -OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:LAT2 semapv:UnspecifiedMatching OMIM:605719 LAT2 skos:exactMatch ncbigene:7462 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:LAT2 semapv:UnspecifiedMatching OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:KCNK4 semapv:UnspecifiedMatching OMIM:605720 KCNK4 skos:exactMatch ncbigene:50801 semapv:UnspecifiedMatching OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:F11R semapv:UnspecifiedMatching OMIM:605721 JAM1 skos:exactMatch ncbigene:50848 semapv:UnspecifiedMatching OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:KCNJ16 semapv:UnspecifiedMatching OMIM:605722 KCNJ16 skos:exactMatch ncbigene:3773 semapv:UnspecifiedMatching -OMIM:605723 PDCD1LG2 skos:exactMatch ncbigene:80380 semapv:UnspecifiedMatching OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:PDCD1LG2 semapv:UnspecifiedMatching -OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch ncbigene:80380 semapv:UnspecifiedMatching OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching +OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching OMIM:605725 PRX skos:exactMatch hgnc.symbol:PRX semapv:UnspecifiedMatching OMIM:605725 PRX skos:exactMatch ncbigene:57716 semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch hgnc.symbol:AKNA semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch ncbigene:80709 semapv:UnspecifiedMatching OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:SPAG6 semapv:UnspecifiedMatching OMIM:605730 SPAG6 skos:exactMatch ncbigene:9576 semapv:UnspecifiedMatching -OMIM:605731 SPAG8 skos:exactMatch ncbigene:26206 semapv:UnspecifiedMatching OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:SPAG8 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch ncbigene:26206 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch ncbigene:27242 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:TNFRSF21 semapv:UnspecifiedMatching OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C1422006 semapv:UnspecifiedMatching OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:TNFRSF21 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch ncbigene:27242 semapv:UnspecifiedMatching OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:PRELID1 semapv:UnspecifiedMatching OMIM:605733 PRELID1 skos:exactMatch ncbigene:27166 semapv:UnspecifiedMatching OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:TMEFF2 semapv:UnspecifiedMatching OMIM:605734 TMEFF2 skos:exactMatch ncbigene:23671 semapv:UnspecifiedMatching -OMIM:605736 UBASH3A skos:exactMatch ncbigene:53347 semapv:UnspecifiedMatching OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:UBASH3A semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch ncbigene:53347 semapv:UnspecifiedMatching OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:BIRC7 semapv:UnspecifiedMatching OMIM:605737 BIRC7 skos:exactMatch ncbigene:79444 semapv:UnspecifiedMatching -OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching OMIM:605739 KY skos:exactMatch ncbigene:339855 semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching OMIM:605740 SOST skos:exactMatch hgnc.symbol:SOST semapv:UnspecifiedMatching OMIM:605740 SOST skos:exactMatch ncbigene:50964 semapv:UnspecifiedMatching OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:GPR183 semapv:UnspecifiedMatching OMIM:605741 GPR183 skos:exactMatch ncbigene:1880 semapv:UnspecifiedMatching -OMIM:605742 TUBA8 skos:exactMatch ncbigene:51807 semapv:UnspecifiedMatching OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:TUBA8 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch ncbigene:51807 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch ncbigene:55733 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch hgnc.symbol:HHAT semapv:UnspecifiedMatching OMIM:605743 HHAT skos:exactMatch UMLS:C1539668 semapv:UnspecifiedMatching OMIM:605743 HHAT skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch hgnc.symbol:HHAT semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch ncbigene:55733 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch UMLS:C1367595 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch UMLS:C4479452 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:EXTL3 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch ncbigene:2137 semapv:UnspecifiedMatching -OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:CYBRD1 semapv:UnspecifiedMatching -OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:LDLRAP1 semapv:UnspecifiedMatching -OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching OMIM:605748 BCO1 skos:exactMatch ncbigene:53630 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching OMIM:605752 HID1 skos:exactMatch hgnc.symbol:HID1 semapv:UnspecifiedMatching OMIM:605752 HID1 skos:exactMatch ncbigene:283987 semapv:UnspecifiedMatching OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:SPINK2 semapv:UnspecifiedMatching OMIM:605753 SPINK2 skos:exactMatch ncbigene:6691 semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch ncbigene:9091 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:PIGQ semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch UMLS:C1422429 semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:PIGQ semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch ncbigene:51473 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C1425339 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:DCDC2 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C1425339 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C4015542 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:DCDC2 semapv:UnspecifiedMatching OMIM:605757 PELO skos:exactMatch hgnc.symbol:PELO semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch ncbigene:53918 semapv:UnspecifiedMatching OMIM:605757 PELO skos:exactMatch UMLS:C1418455 semapv:UnspecifiedMatching -OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:ASB1 semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch ncbigene:53918 semapv:UnspecifiedMatching OMIM:605758 ASB1 skos:exactMatch ncbigene:51665 semapv:UnspecifiedMatching -OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:ASB2 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:ASB1 semapv:UnspecifiedMatching OMIM:605759 ASB2 skos:exactMatch ncbigene:51676 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:ASB2 semapv:UnspecifiedMatching OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:ASB3 semapv:UnspecifiedMatching OMIM:605760 ASB3 skos:exactMatch ncbigene:51130 semapv:UnspecifiedMatching -OMIM:605761 ASB4 skos:exactMatch ncbigene:51666 semapv:UnspecifiedMatching OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:ASB4 semapv:UnspecifiedMatching -OMIM:605762 MOK skos:exactMatch ncbigene:5891 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch ncbigene:51666 semapv:UnspecifiedMatching OMIM:605762 MOK skos:exactMatch hgnc.symbol:MOK semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch ncbigene:5891 semapv:UnspecifiedMatching OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:SLC45A1 semapv:UnspecifiedMatching OMIM:605763 SLC45A1 skos:exactMatch ncbigene:50651 semapv:UnspecifiedMatching -OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:TDP2 semapv:UnspecifiedMatching OMIM:605764 TDP2 skos:exactMatch ncbigene:51567 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:TDP2 semapv:UnspecifiedMatching OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:DLEU1 semapv:UnspecifiedMatching OMIM:605765 DLEU1 skos:exactMatch ncbigene:10301 semapv:UnspecifiedMatching OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:DLEU2 semapv:UnspecifiedMatching OMIM:605766 DLEU2 skos:exactMatch ncbigene:8847 semapv:UnspecifiedMatching -OMIM:605767 PAG1 skos:exactMatch ncbigene:55824 semapv:UnspecifiedMatching OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:PAG1 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch ncbigene:55824 semapv:UnspecifiedMatching OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch ncbigene:27071 semapv:UnspecifiedMatching OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:DAPP1 semapv:UnspecifiedMatching -OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:TRIM33 semapv:UnspecifiedMatching OMIM:605769 TRIM33 skos:exactMatch ncbigene:51592 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:TRIM33 semapv:UnspecifiedMatching OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:ILVBL semapv:UnspecifiedMatching OMIM:605770 ILVBL skos:exactMatch ncbigene:10994 semapv:UnspecifiedMatching OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:COX7A2L semapv:UnspecifiedMatching @@ -20272,10 +20276,10 @@ OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:SMPD3 semapv:UnspecifiedMatching OMIM:605777 SMPD3 skos:exactMatch ncbigene:55512 semapv:UnspecifiedMatching OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:NIF3L1 semapv:UnspecifiedMatching OMIM:605778 NIF3L1 skos:exactMatch ncbigene:60491 semapv:UnspecifiedMatching -OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:PRDM4 semapv:UnspecifiedMatching -OMIM:605781 RHOD skos:exactMatch hgnc.symbol:RHOD semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching OMIM:605781 RHOD skos:exactMatch ncbigene:29984 semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch hgnc.symbol:RHOD semapv:UnspecifiedMatching OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:EIF5A2 semapv:UnspecifiedMatching OMIM:605782 EIF5A2 skos:exactMatch ncbigene:56648 semapv:UnspecifiedMatching OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:BCAS2 semapv:UnspecifiedMatching @@ -20291,8 +20295,8 @@ OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:ANKRA2 semapv:UnspecifiedMatching OMIM:605787 ANKRA2 skos:exactMatch ncbigene:57763 semapv:UnspecifiedMatching OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:MAPRE3 semapv:UnspecifiedMatching OMIM:605788 MAPRE3 skos:exactMatch ncbigene:22924 semapv:UnspecifiedMatching -OMIM:605789 MAPRE2 skos:exactMatch ncbigene:10982 semapv:UnspecifiedMatching OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:MAPRE2 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch ncbigene:10982 semapv:UnspecifiedMatching OMIM:605790 STK31 skos:exactMatch ncbigene:56164 semapv:UnspecifiedMatching OMIM:605790 STK31 skos:exactMatch hgnc.symbol:STK31 semapv:UnspecifiedMatching OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:TEX12 semapv:UnspecifiedMatching @@ -20301,32 +20305,32 @@ OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:TEX14 semapv:UnspecifiedMatching OMIM:605792 TEX14 skos:exactMatch ncbigene:56155 semapv:UnspecifiedMatching OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:RNF17 semapv:UnspecifiedMatching OMIM:605793 RNF17 skos:exactMatch ncbigene:56163 semapv:UnspecifiedMatching -OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:MOV10L1 semapv:UnspecifiedMatching OMIM:605794 MOV10L1 skos:exactMatch ncbigene:54456 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:MOV10L1 semapv:UnspecifiedMatching OMIM:605795 TEX15 skos:exactMatch ncbigene:56154 semapv:UnspecifiedMatching OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:TEX15 semapv:UnspecifiedMatching OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:TDRD1 semapv:UnspecifiedMatching OMIM:605796 TDRD1 skos:exactMatch ncbigene:56165 semapv:UnspecifiedMatching OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:ASZ1 semapv:UnspecifiedMatching OMIM:605797 ASZ1 skos:exactMatch ncbigene:136991 semapv:UnspecifiedMatching -OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:NPDC1 semapv:UnspecifiedMatching OMIM:605798 NPDC1 skos:exactMatch ncbigene:56654 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:NPDC1 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching OMIM:605799 AMN skos:exactMatch hgnc.symbol:AMN semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch ncbigene:81693 semapv:UnspecifiedMatching OMIM:605799 AMN skos:exactMatch UMLS:C1422785 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching -OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:HNRNPUL1 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch ncbigene:81693 semapv:UnspecifiedMatching OMIM:605800 HNRNPUL1 skos:exactMatch ncbigene:11100 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:HNRNPUL1 semapv:UnspecifiedMatching OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:RALBP1 semapv:UnspecifiedMatching OMIM:605801 RALBP1 skos:exactMatch ncbigene:10928 semapv:UnspecifiedMatching OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:ZEB2 semapv:UnspecifiedMatching OMIM:605802 ZEB2 skos:exactMatch ncbigene:9839 semapv:UnspecifiedMatching OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:CDH7 semapv:UnspecifiedMatching OMIM:605806 CDH7 skos:exactMatch ncbigene:1005 semapv:UnspecifiedMatching -OMIM:605807 CDH20 skos:exactMatch ncbigene:28316 semapv:UnspecifiedMatching OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:CDH20 semapv:UnspecifiedMatching -OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:MRPS22 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch ncbigene:28316 semapv:UnspecifiedMatching OMIM:605810 MRPS22 skos:exactMatch ncbigene:56945 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:MRPS22 semapv:UnspecifiedMatching OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:NXT1 semapv:UnspecifiedMatching OMIM:605811 NXT1 skos:exactMatch ncbigene:29107 semapv:UnspecifiedMatching OMIM:605812 DDX19B skos:exactMatch UMLS:C1824903 semapv:UnspecifiedMatching @@ -20334,465 +20338,465 @@ OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:DDX19B semapv:UnspecifiedMatching OMIM:605812 DDX19B skos:exactMatch ncbigene:11269 semapv:UnspecifiedMatching OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:NUTF2 semapv:UnspecifiedMatching OMIM:605813 NUTF2 skos:exactMatch ncbigene:10204 semapv:UnspecifiedMatching -OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching -OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:NUP62 semapv:UnspecifiedMatching +OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching OMIM:605815 NUP62 skos:exactMatch ncbigene:23636 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:NUP62 semapv:UnspecifiedMatching OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:EBI3 semapv:UnspecifiedMatching OMIM:605816 EBI3 skos:exactMatch ncbigene:10148 semapv:UnspecifiedMatching OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:RIPK3 semapv:UnspecifiedMatching OMIM:605817 RIPK3 skos:exactMatch ncbigene:11035 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch hgnc.symbol:PES1 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch ncbigene:23481 semapv:UnspecifiedMatching -OMIM:605821 ERAF skos:exactMatch ncbigene:51327 semapv:UnspecifiedMatching OMIM:605821 ERAF skos:exactMatch hgnc.symbol:AHSP semapv:UnspecifiedMatching -OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:POPDC2 semapv:UnspecifiedMatching +OMIM:605821 ERAF skos:exactMatch ncbigene:51327 semapv:UnspecifiedMatching OMIM:605823 POPDC2 skos:exactMatch ncbigene:64091 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:POPDC2 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch UMLS:C1425025 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:POPDC3 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch ncbigene:64208 semapv:UnspecifiedMatching -OMIM:605825 HEBP2 skos:exactMatch ncbigene:23593 semapv:UnspecifiedMatching OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:HEBP2 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch ncbigene:23593 semapv:UnspecifiedMatching OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:HEBP1 semapv:UnspecifiedMatching OMIM:605826 HEBP1 skos:exactMatch ncbigene:50865 semapv:UnspecifiedMatching OMIM:605826 HEBP1 skos:exactMatch UMLS:C1424798 semapv:UnspecifiedMatching -OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:TMC6 semapv:UnspecifiedMatching OMIM:605828 TMC6 skos:exactMatch ncbigene:11322 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:TMC6 semapv:UnspecifiedMatching OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:TMC8 semapv:UnspecifiedMatching OMIM:605829 TMC8 skos:exactMatch ncbigene:147138 semapv:UnspecifiedMatching OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:FGFRL1 semapv:UnspecifiedMatching OMIM:605830 FGFRL1 skos:exactMatch ncbigene:53834 semapv:UnspecifiedMatching -OMIM:605831 FGF22 skos:exactMatch ncbigene:27006 semapv:UnspecifiedMatching OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:FGF22 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch ncbigene:27006 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch UMLS:C1825842 semapv:UnspecifiedMatching -OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching OMIM:605834 TMOD4 skos:exactMatch ncbigene:29765 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching OMIM:605835 TMEM2 skos:exactMatch hgnc.symbol:CEMIP2 semapv:UnspecifiedMatching OMIM:605835 TMEM2 skos:exactMatch ncbigene:23670 semapv:UnspecifiedMatching OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:UNC13B semapv:UnspecifiedMatching OMIM:605836 UNC13B skos:exactMatch ncbigene:10497 semapv:UnspecifiedMatching -OMIM:605837 HERC2 skos:exactMatch ncbigene:8924 semapv:UnspecifiedMatching OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:HERC2 semapv:UnspecifiedMatching -OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch ncbigene:8924 semapv:UnspecifiedMatching OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:RNF111 semapv:UnspecifiedMatching -OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching OMIM:605842 TBL2 skos:exactMatch ncbigene:26608 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching OMIM:605843 PECR skos:exactMatch hgnc.symbol:PECR semapv:UnspecifiedMatching OMIM:605843 PECR skos:exactMatch ncbigene:55825 semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:BCL7B semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch ncbigene:9275 semapv:UnspecifiedMatching OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:BCL7C semapv:UnspecifiedMatching OMIM:605847 BCL7C skos:exactMatch ncbigene:9274 semapv:UnspecifiedMatching -OMIM:605848 CASP14 skos:exactMatch ncbigene:23581 semapv:UnspecifiedMatching OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:CASP14 semapv:UnspecifiedMatching -OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:DMGDH semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch ncbigene:23581 semapv:UnspecifiedMatching OMIM:605849 DMGDH skos:exactMatch ncbigene:29958 semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:DMGDH semapv:UnspecifiedMatching OMIM:605851 ICMT skos:exactMatch hgnc.symbol:ICMT semapv:UnspecifiedMatching OMIM:605851 ICMT skos:exactMatch ncbigene:23463 semapv:UnspecifiedMatching OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:CLASP1 semapv:UnspecifiedMatching OMIM:605852 CLASP1 skos:exactMatch ncbigene:23332 semapv:UnspecifiedMatching OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:CLASP2 semapv:UnspecifiedMatching OMIM:605853 CLASP2 skos:exactMatch ncbigene:23122 semapv:UnspecifiedMatching -OMIM:605854 BBC3 skos:exactMatch ncbigene:27113 semapv:UnspecifiedMatching OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:BBC3 semapv:UnspecifiedMatching -OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:ATP10A semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch ncbigene:27113 semapv:UnspecifiedMatching OMIM:605855 ATP10A skos:exactMatch ncbigene:57194 semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:ATP10A semapv:UnspecifiedMatching OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:RHOQ semapv:UnspecifiedMatching OMIM:605857 RHOQ skos:exactMatch ncbigene:23433 semapv:UnspecifiedMatching OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:SCRT1 semapv:UnspecifiedMatching OMIM:605858 SCRT1 skos:exactMatch ncbigene:83482 semapv:UnspecifiedMatching -OMIM:605859 ZBTB32 skos:exactMatch ncbigene:27033 semapv:UnspecifiedMatching OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:ZBTB32 semapv:UnspecifiedMatching -OMIM:605860 RCAN3 skos:exactMatch ncbigene:11123 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch ncbigene:27033 semapv:UnspecifiedMatching OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:RCAN3 semapv:UnspecifiedMatching -OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:CNPY2 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch ncbigene:11123 semapv:UnspecifiedMatching OMIM:605861 CNPY2 skos:exactMatch ncbigene:10330 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:CNPY2 semapv:UnspecifiedMatching OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:RXYLT1 semapv:UnspecifiedMatching OMIM:605862 RXYLT1 skos:exactMatch ncbigene:10329 semapv:UnspecifiedMatching OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:B3GNT3 semapv:UnspecifiedMatching OMIM:605863 B3GNT3 skos:exactMatch ncbigene:10331 semapv:UnspecifiedMatching -OMIM:605864 B3GNT4 skos:exactMatch ncbigene:79369 semapv:UnspecifiedMatching OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:B3GNT4 semapv:UnspecifiedMatching -OMIM:605865 TAS1R3 skos:exactMatch ncbigene:83756 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch ncbigene:79369 semapv:UnspecifiedMatching OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:TAS1R3 semapv:UnspecifiedMatching -OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:ATP8B3 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch ncbigene:83756 semapv:UnspecifiedMatching OMIM:605866 ATP8B3 skos:exactMatch ncbigene:148229 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:ATP8B3 semapv:UnspecifiedMatching OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:ATP8B2 semapv:UnspecifiedMatching OMIM:605867 ATP8B2 skos:exactMatch ncbigene:57198 semapv:UnspecifiedMatching OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:ATP11A semapv:UnspecifiedMatching OMIM:605868 ATP11A skos:exactMatch ncbigene:23250 semapv:UnspecifiedMatching OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:ATP11B semapv:UnspecifiedMatching OMIM:605869 ATP11B skos:exactMatch ncbigene:23200 semapv:UnspecifiedMatching -OMIM:605870 ATP8A2 skos:exactMatch ncbigene:51761 semapv:UnspecifiedMatching OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:ATP8A2 semapv:UnspecifiedMatching -OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:CLEC4M semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch ncbigene:51761 semapv:UnspecifiedMatching OMIM:605872 CLEC4M skos:exactMatch ncbigene:10332 semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:CLEC4M semapv:UnspecifiedMatching OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:KCNK10 semapv:UnspecifiedMatching OMIM:605873 KCNK10 skos:exactMatch ncbigene:54207 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch UMLS:C1416601 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:KCNK9 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch ncbigene:51305 semapv:UnspecifiedMatching -OMIM:605875 WASF2 skos:exactMatch ncbigene:10163 semapv:UnspecifiedMatching OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:WASF2 semapv:UnspecifiedMatching -OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:FCRL4 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch ncbigene:10163 semapv:UnspecifiedMatching OMIM:605876 FCRL4 skos:exactMatch ncbigene:83417 semapv:UnspecifiedMatching -OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:FCRL5 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:FCRL4 semapv:UnspecifiedMatching OMIM:605877 FCRL5 skos:exactMatch ncbigene:83416 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:FCRL5 semapv:UnspecifiedMatching OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:ZBTB7A semapv:UnspecifiedMatching OMIM:605878 ZBTB7A skos:exactMatch ncbigene:51341 semapv:UnspecifiedMatching -OMIM:605879 KCNN2 skos:exactMatch ncbigene:3781 semapv:UnspecifiedMatching OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:KCNN2 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch ncbigene:23522 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:KAT6B semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch ncbigene:3781 semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch UMLS:C1425003 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching -OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:SLC35C1 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:KAT6B semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch ncbigene:23522 semapv:UnspecifiedMatching OMIM:605881 SLC35C1 skos:exactMatch ncbigene:55343 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:SLC35C1 semapv:UnspecifiedMatching OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:BRIP1 semapv:UnspecifiedMatching OMIM:605882 BRIP1 skos:exactMatch ncbigene:83990 semapv:UnspecifiedMatching -OMIM:605883 LAMP3 skos:exactMatch ncbigene:27074 semapv:UnspecifiedMatching OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:LAMP3 semapv:UnspecifiedMatching -OMIM:605884 DNAH10 skos:exactMatch ncbigene:196385 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch ncbigene:27074 semapv:UnspecifiedMatching OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:DNAH10 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch ncbigene:196385 semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch ncbigene:57556 semapv:UnspecifiedMatching OMIM:605885 SEMA6A skos:exactMatch UMLS:C1419956 semapv:UnspecifiedMatching OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:SEMA6A semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch ncbigene:57556 semapv:UnspecifiedMatching -OMIM:605886 CR1L skos:exactMatch hgnc.symbol:CR1L semapv:UnspecifiedMatching OMIM:605886 CR1L skos:exactMatch ncbigene:1379 semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch hgnc.symbol:CR1L semapv:UnspecifiedMatching OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:EHD1 semapv:UnspecifiedMatching OMIM:605888 EHD1 skos:exactMatch ncbigene:10938 semapv:UnspecifiedMatching OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:PDLIM3 semapv:UnspecifiedMatching OMIM:605889 PDLIM3 skos:exactMatch ncbigene:27295 semapv:UnspecifiedMatching -OMIM:605890 EHD2 skos:exactMatch ncbigene:30846 semapv:UnspecifiedMatching OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:EHD2 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch ncbigene:30846 semapv:UnspecifiedMatching OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:EHD3 semapv:UnspecifiedMatching OMIM:605891 EHD3 skos:exactMatch ncbigene:30845 semapv:UnspecifiedMatching -OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:EHD4 semapv:UnspecifiedMatching OMIM:605892 EHD4 skos:exactMatch ncbigene:30844 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:EHD4 semapv:UnspecifiedMatching OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:CDIPT semapv:UnspecifiedMatching OMIM:605893 CDIPT skos:exactMatch ncbigene:10423 semapv:UnspecifiedMatching OMIM:605894 EID1 skos:exactMatch hgnc.symbol:EID1 semapv:UnspecifiedMatching OMIM:605894 EID1 skos:exactMatch ncbigene:23741 semapv:UnspecifiedMatching -OMIM:605895 EIF4E2 skos:exactMatch ncbigene:9470 semapv:UnspecifiedMatching OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:EIF4E2 semapv:UnspecifiedMatching -OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:ECEL1 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch ncbigene:9470 semapv:UnspecifiedMatching OMIM:605896 ECEL1 skos:exactMatch ncbigene:9427 semapv:UnspecifiedMatching -OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:UGGT1 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:ECEL1 semapv:UnspecifiedMatching OMIM:605897 UGGT1 skos:exactMatch ncbigene:56886 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:UGGT1 semapv:UnspecifiedMatching OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:UGGT2 semapv:UnspecifiedMatching OMIM:605898 UGGT2 skos:exactMatch ncbigene:55757 semapv:UnspecifiedMatching OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:PDLIM1 semapv:UnspecifiedMatching OMIM:605900 PDLIM1 skos:exactMatch ncbigene:9124 semapv:UnspecifiedMatching -OMIM:605901 UCN3 skos:exactMatch ncbigene:114131 semapv:UnspecifiedMatching OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:UCN3 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch ncbigene:114131 semapv:UnspecifiedMatching OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:UCN2 semapv:UnspecifiedMatching OMIM:605902 UCN2 skos:exactMatch ncbigene:90226 semapv:UnspecifiedMatching -OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:PDLIM7 semapv:UnspecifiedMatching OMIM:605903 PDLIM7 skos:exactMatch ncbigene:9260 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:PDLIM7 semapv:UnspecifiedMatching OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:PDLIM5 semapv:UnspecifiedMatching OMIM:605904 PDLIM5 skos:exactMatch ncbigene:10611 semapv:UnspecifiedMatching OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:DCUN1D1 semapv:UnspecifiedMatching OMIM:605905 DCUN1D1 skos:exactMatch ncbigene:54165 semapv:UnspecifiedMatching -OMIM:605906 LDB3 skos:exactMatch ncbigene:11155 semapv:UnspecifiedMatching OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:LDB3 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch UMLS:C1425428 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch ncbigene:11155 semapv:UnspecifiedMatching OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:ALG1 semapv:UnspecifiedMatching OMIM:605907 ALG1 skos:exactMatch ncbigene:56052 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch UMLS:C1425428 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:MLC1 semapv:UnspecifiedMatching OMIM:605908 MLC1 skos:exactMatch ncbigene:23209 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch ncbigene:51129 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:ANGPTL4 semapv:UnspecifiedMatching OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C1423931 semapv:UnspecifiedMatching OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C4016952 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:ANGPTL4 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch ncbigene:51129 semapv:UnspecifiedMatching OMIM:605912 MEPE skos:exactMatch hgnc.symbol:MEPE semapv:UnspecifiedMatching OMIM:605912 MEPE skos:exactMatch ncbigene:56955 semapv:UnspecifiedMatching -OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching OMIM:605914 TNFRSF12A skos:exactMatch ncbigene:51330 semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:TBL3 semapv:UnspecifiedMatching OMIM:605915 TBL3 skos:exactMatch ncbigene:10607 semapv:UnspecifiedMatching -OMIM:605916 SPTBN5 skos:exactMatch ncbigene:51332 semapv:UnspecifiedMatching OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:SPTBN5 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch ncbigene:22974 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch ncbigene:51332 semapv:UnspecifiedMatching OMIM:605917 TPX2 skos:exactMatch UMLS:C1412939 semapv:UnspecifiedMatching OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:TPX2 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch ncbigene:22974 semapv:UnspecifiedMatching OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:SPON2 semapv:UnspecifiedMatching OMIM:605918 SPON2 skos:exactMatch ncbigene:10417 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch ncbigene:27067 semapv:UnspecifiedMatching OMIM:605920 STAU2 skos:exactMatch UMLS:C1420457 semapv:UnspecifiedMatching OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:STAU2 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch ncbigene:27067 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C1335879 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:STIM1 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch ncbigene:6786 semapv:UnspecifiedMatching -OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:IMPA2 semapv:UnspecifiedMatching OMIM:605922 IMPA2 skos:exactMatch ncbigene:3613 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:SOX8 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch ncbigene:30812 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:IMPA2 semapv:UnspecifiedMatching OMIM:605923 SOX8 skos:exactMatch UMLS:C1420330 semapv:UnspecifiedMatching OMIM:605923 SOX8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605924 WDR4 skos:exactMatch ncbigene:10785 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:SOX8 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch ncbigene:30812 semapv:UnspecifiedMatching OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:WDR4 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch ncbigene:10785 semapv:UnspecifiedMatching OMIM:605925 PCNT skos:exactMatch hgnc.symbol:PCNT semapv:UnspecifiedMatching OMIM:605925 PCNT skos:exactMatch ncbigene:5116 semapv:UnspecifiedMatching -OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:PICK1 semapv:UnspecifiedMatching OMIM:605926 PICK1 skos:exactMatch ncbigene:9463 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:PICK1 semapv:UnspecifiedMatching OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:MTBP semapv:UnspecifiedMatching OMIM:605927 MDM2BP skos:exactMatch ncbigene:27085 semapv:UnspecifiedMatching OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:ARFIP1 semapv:UnspecifiedMatching OMIM:605928 ARFIP1 skos:exactMatch ncbigene:27236 semapv:UnspecifiedMatching -OMIM:605929 SNX2 skos:exactMatch ncbigene:6643 semapv:UnspecifiedMatching OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:SNX2 semapv:UnspecifiedMatching -OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:SNX3 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch ncbigene:6643 semapv:UnspecifiedMatching OMIM:605930 SNX3 skos:exactMatch ncbigene:8724 semapv:UnspecifiedMatching -OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:SNX4 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:SNX3 semapv:UnspecifiedMatching OMIM:605931 SNX4 skos:exactMatch ncbigene:8723 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:SNX4 semapv:UnspecifiedMatching OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:BHMT2 semapv:UnspecifiedMatching OMIM:605932 BHMT2 skos:exactMatch ncbigene:23743 semapv:UnspecifiedMatching -OMIM:605933 TM7SF4 skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching OMIM:605933 TM7SF4 skos:exactMatch hgnc.symbol:DCSTAMP semapv:UnspecifiedMatching -OMIM:605936 BIN2 skos:exactMatch ncbigene:51411 semapv:UnspecifiedMatching +OMIM:605933 TM7SF4 skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:BIN2 semapv:UnspecifiedMatching -OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:SNX5 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch ncbigene:51411 semapv:UnspecifiedMatching OMIM:605937 SNX5 skos:exactMatch ncbigene:27131 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch UMLS:C1826586 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch hgnc.symbol:PIGP semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:SNX5 semapv:UnspecifiedMatching OMIM:605938 PIGP skos:exactMatch ncbigene:51227 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch hgnc.symbol:PIGP semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch UMLS:C1826586 semapv:UnspecifiedMatching OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:PLCD4 semapv:UnspecifiedMatching OMIM:605939 PLCD4 skos:exactMatch ncbigene:84812 semapv:UnspecifiedMatching -OMIM:605940 BASP1 skos:exactMatch ncbigene:10409 semapv:UnspecifiedMatching OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:BASP1 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch ncbigene:10409 semapv:UnspecifiedMatching OMIM:605941 SART1 skos:exactMatch hgnc.symbol:SART1 semapv:UnspecifiedMatching OMIM:605941 SART1 skos:exactMatch ncbigene:9092 semapv:UnspecifiedMatching -OMIM:605942 DSE skos:exactMatch hgnc.symbol:DSE semapv:UnspecifiedMatching OMIM:605942 DSE skos:exactMatch ncbigene:29940 semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch hgnc.symbol:DSE semapv:UnspecifiedMatching OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:GDE1 semapv:UnspecifiedMatching OMIM:605943 GDE1 skos:exactMatch ncbigene:51573 semapv:UnspecifiedMatching OMIM:605947 PIGL skos:exactMatch hgnc.symbol:PIGL semapv:UnspecifiedMatching OMIM:605947 PIGL skos:exactMatch ncbigene:9487 semapv:UnspecifiedMatching -OMIM:605948 GPRC5B skos:exactMatch ncbigene:51704 semapv:UnspecifiedMatching OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:GPRC5B semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch ncbigene:51704 semapv:UnspecifiedMatching OMIM:605949 GPRC5C skos:exactMatch ncbigene:55890 semapv:UnspecifiedMatching OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:GPRC5C semapv:UnspecifiedMatching -OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:RAB33B semapv:UnspecifiedMatching OMIM:605950 RAB33B skos:exactMatch ncbigene:83452 semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:RAB33B semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C1414139 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:DPM3 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch ncbigene:54344 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch ncbigene:51429 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:SNX9 semapv:UnspecifiedMatching OMIM:605952 SNX9 skos:exactMatch UMLS:C1423100 semapv:UnspecifiedMatching -OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:ASAP1 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:SNX9 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch ncbigene:51429 semapv:UnspecifiedMatching OMIM:605953 ASAP1 skos:exactMatch ncbigene:50807 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:ASAP1 semapv:UnspecifiedMatching OMIM:605954 FETUB skos:exactMatch hgnc.symbol:FETUB semapv:UnspecifiedMatching OMIM:605954 FETUB skos:exactMatch ncbigene:26998 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch UMLS:C1426161 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch UMLS:C4479653 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:NKX6-2 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch ncbigene:84504 semapv:UnspecifiedMatching -OMIM:605956 NOD2 skos:exactMatch ncbigene:64127 semapv:UnspecifiedMatching OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:NOD2 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch ncbigene:64127 semapv:UnspecifiedMatching OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:TRAIP semapv:UnspecifiedMatching OMIM:605958 TRAIP skos:exactMatch ncbigene:10293 semapv:UnspecifiedMatching OMIM:605959 hr44 antigen skos:exactMatch UMLS:C1853813 semapv:UnspecifiedMatching -OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:EXOSC10 semapv:UnspecifiedMatching OMIM:605960 EXOSC10 skos:exactMatch ncbigene:5394 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:EXOSC10 semapv:UnspecifiedMatching OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:PLRG1 semapv:UnspecifiedMatching OMIM:605961 PLRG1 skos:exactMatch ncbigene:5356 semapv:UnspecifiedMatching -OMIM:605962 RABEPK skos:exactMatch ncbigene:10244 semapv:UnspecifiedMatching OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:RABEPK semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch ncbigene:9784 semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch ncbigene:10244 semapv:UnspecifiedMatching OMIM:605963 SNX17 skos:exactMatch UMLS:C1423106 semapv:UnspecifiedMatching OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:SNX17 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch ncbigene:9784 semapv:UnspecifiedMatching OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:SNX15 semapv:UnspecifiedMatching OMIM:605964 SNX15 skos:exactMatch ncbigene:29907 semapv:UnspecifiedMatching -OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:RIN1 semapv:UnspecifiedMatching OMIM:605965 RIN1 skos:exactMatch ncbigene:9610 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:RIN1 semapv:UnspecifiedMatching OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:HNF4G semapv:UnspecifiedMatching OMIM:605966 HNF4G skos:exactMatch ncbigene:3174 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching -OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:RFPL1 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:RFPL2 semapv:UnspecifiedMatching OMIM:605969 RFPL2 skos:exactMatch ncbigene:10739 semapv:UnspecifiedMatching -OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:RFPL3 semapv:UnspecifiedMatching OMIM:605970 RFPL3 skos:exactMatch ncbigene:10738 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:RFPL3 semapv:UnspecifiedMatching OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:RFPL3S semapv:UnspecifiedMatching OMIM:605971 RFPL3S skos:exactMatch ncbigene:10737 semapv:UnspecifiedMatching OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:RFPL1S semapv:UnspecifiedMatching OMIM:605972 RFPL1S skos:exactMatch ncbigene:10740 semapv:UnspecifiedMatching -OMIM:605973 DCAF7 skos:exactMatch ncbigene:10238 semapv:UnspecifiedMatching OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:DCAF7 semapv:UnspecifiedMatching -OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:SLU7 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch ncbigene:10238 semapv:UnspecifiedMatching OMIM:605974 SLU7 skos:exactMatch ncbigene:10569 semapv:UnspecifiedMatching -OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:SRRM1 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:SLU7 semapv:UnspecifiedMatching OMIM:605975 SRRM1 skos:exactMatch ncbigene:10250 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:SRRM1 semapv:UnspecifiedMatching OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:ZBTB6 semapv:UnspecifiedMatching OMIM:605976 ZBTB6 skos:exactMatch ncbigene:10773 semapv:UnspecifiedMatching OMIM:605977 IMMP2L skos:exactMatch UMLS:C1422779 semapv:UnspecifiedMatching OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:IMMP2L semapv:UnspecifiedMatching OMIM:605977 IMMP2L skos:exactMatch ncbigene:83943 semapv:UnspecifiedMatching -OMIM:605978 VPS13A skos:exactMatch ncbigene:23230 semapv:UnspecifiedMatching OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:VPS13A semapv:UnspecifiedMatching -OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:SNAPC5 semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch ncbigene:23230 semapv:UnspecifiedMatching OMIM:605979 SNAPC5 skos:exactMatch ncbigene:10302 semapv:UnspecifiedMatching -OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:NOD1 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:SNAPC5 semapv:UnspecifiedMatching OMIM:605980 NOD1 skos:exactMatch ncbigene:10392 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:NOD1 semapv:UnspecifiedMatching OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:UBR1 semapv:UnspecifiedMatching OMIM:605981 UBR1 skos:exactMatch ncbigene:197131 semapv:UnspecifiedMatching OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:PPP2R1A semapv:UnspecifiedMatching OMIM:605983 PPP2R1A skos:exactMatch ncbigene:5518 semapv:UnspecifiedMatching -OMIM:605984 EED skos:exactMatch ncbigene:8726 semapv:UnspecifiedMatching OMIM:605984 EED skos:exactMatch hgnc.symbol:EED semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch ncbigene:8726 semapv:UnspecifiedMatching OMIM:605986 STRAP skos:exactMatch hgnc.symbol:STRAP semapv:UnspecifiedMatching OMIM:605986 STRAP skos:exactMatch ncbigene:11171 semapv:UnspecifiedMatching OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:PIAS3 semapv:UnspecifiedMatching OMIM:605987 PIAS3 skos:exactMatch ncbigene:10401 semapv:UnspecifiedMatching -OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:DCLRE1C semapv:UnspecifiedMatching OMIM:605988 DCLRE1C skos:exactMatch ncbigene:64421 semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:DCLRE1C semapv:UnspecifiedMatching OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:PIAS4 semapv:UnspecifiedMatching OMIM:605989 PIAS4 skos:exactMatch ncbigene:51588 semapv:UnspecifiedMatching OMIM:605990 nephrolithiasis, uric acid, susceptibility to skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching -OMIM:605991 NGEF skos:exactMatch ncbigene:25791 semapv:UnspecifiedMatching OMIM:605991 NGEF skos:exactMatch hgnc.symbol:NGEF semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch ncbigene:25791 semapv:UnspecifiedMatching OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:LHX5 semapv:UnspecifiedMatching OMIM:605992 LHX5 skos:exactMatch ncbigene:64211 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch ncbigene:54704 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:PDP1 semapv:UnspecifiedMatching OMIM:605993 PDP1 skos:exactMatch UMLS:C1418818 semapv:UnspecifiedMatching OMIM:605993 PDP1 skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:PDP1 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch ncbigene:54704 semapv:UnspecifiedMatching OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:CYP39A1 semapv:UnspecifiedMatching OMIM:605994 CYP39A1 skos:exactMatch ncbigene:51302 semapv:UnspecifiedMatching OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:KIF1B semapv:UnspecifiedMatching OMIM:605995 KIF1B skos:exactMatch ncbigene:23095 semapv:UnspecifiedMatching -OMIM:605996 DXO skos:exactMatch ncbigene:1797 semapv:UnspecifiedMatching OMIM:605996 DXO skos:exactMatch hgnc.symbol:DXO semapv:UnspecifiedMatching -OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:PPP2R2C semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch ncbigene:1797 semapv:UnspecifiedMatching OMIM:605997 PPP2R2C skos:exactMatch ncbigene:5522 semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:PPP2R2C semapv:UnspecifiedMatching OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:HAX1 semapv:UnspecifiedMatching OMIM:605998 HAX1 skos:exactMatch ncbigene:10456 semapv:UnspecifiedMatching OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:CLEC10A semapv:UnspecifiedMatching OMIM:605999 CLEC10A skos:exactMatch ncbigene:10462 semapv:UnspecifiedMatching OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:BTNL2 semapv:UnspecifiedMatching OMIM:606000 BTNL2 skos:exactMatch ncbigene:56244 semapv:UnspecifiedMatching -OMIM:606001 IL32 skos:exactMatch ncbigene:9235 semapv:UnspecifiedMatching OMIM:606001 IL32 skos:exactMatch hgnc.symbol:IL32 semapv:UnspecifiedMatching -OMIM:606003 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch ncbigene:9235 semapv:UnspecifiedMatching OMIM:606003 transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching +OMIM:606003 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:GGA1 semapv:UnspecifiedMatching OMIM:606004 GGA1 skos:exactMatch ncbigene:26088 semapv:UnspecifiedMatching OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:GGA2 semapv:UnspecifiedMatching OMIM:606005 GGA2 skos:exactMatch ncbigene:23062 semapv:UnspecifiedMatching OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:GGA3 semapv:UnspecifiedMatching OMIM:606006 GGA3 skos:exactMatch ncbigene:23163 semapv:UnspecifiedMatching -OMIM:606007 POLR3K skos:exactMatch ncbigene:51728 semapv:UnspecifiedMatching OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:POLR3K semapv:UnspecifiedMatching -OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:NKG7 semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch ncbigene:51728 semapv:UnspecifiedMatching OMIM:606008 NKG7 skos:exactMatch ncbigene:4818 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:NKG7 semapv:UnspecifiedMatching OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:DUX4 semapv:UnspecifiedMatching OMIM:606009 DUX4 skos:exactMatch ncbigene:100288687 semapv:UnspecifiedMatching OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:NRBP1 semapv:UnspecifiedMatching OMIM:606010 NRBP1 skos:exactMatch ncbigene:29959 semapv:UnspecifiedMatching -OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:VSIG2 semapv:UnspecifiedMatching -OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:FBXO5 semapv:UnspecifiedMatching -OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:ALX3 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching OMIM:606014 ALX3 skos:exactMatch ncbigene:257 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:ALX3 semapv:UnspecifiedMatching OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:FCMR semapv:UnspecifiedMatching OMIM:606015 FAIM3 skos:exactMatch ncbigene:9214 semapv:UnspecifiedMatching OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:KEAP1 semapv:UnspecifiedMatching OMIM:606016 KEAP1 skos:exactMatch ncbigene:9817 semapv:UnspecifiedMatching OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:POLR2D semapv:UnspecifiedMatching OMIM:606017 POLR2D skos:exactMatch ncbigene:5433 semapv:UnspecifiedMatching -OMIM:606018 EDIL3 skos:exactMatch ncbigene:10085 semapv:UnspecifiedMatching OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:EDIL3 semapv:UnspecifiedMatching -OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:EXOSC8 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch ncbigene:10085 semapv:UnspecifiedMatching OMIM:606019 EXOSC8 skos:exactMatch ncbigene:11340 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:EXOSC8 semapv:UnspecifiedMatching OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:OIP5 semapv:UnspecifiedMatching OMIM:606020 OIP5 skos:exactMatch ncbigene:11339 semapv:UnspecifiedMatching OMIM:606021 PRAME skos:exactMatch hgnc.symbol:PRAME semapv:UnspecifiedMatching OMIM:606021 PRAME skos:exactMatch ncbigene:23532 semapv:UnspecifiedMatching OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:NUDT9 semapv:UnspecifiedMatching OMIM:606022 NUDT9 skos:exactMatch ncbigene:53343 semapv:UnspecifiedMatching -OMIM:606023 POLR2H skos:exactMatch ncbigene:5437 semapv:UnspecifiedMatching OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:POLR2H semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch UMLS:C1538150 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:ZBTB20 semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch ncbigene:5437 semapv:UnspecifiedMatching OMIM:606025 ZBTB20 skos:exactMatch ncbigene:26137 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:ZBTB20 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch UMLS:C1538150 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching OMIM:606026 NELFA skos:exactMatch hgnc.symbol:NELFA semapv:UnspecifiedMatching OMIM:606026 NELFA skos:exactMatch ncbigene:7469 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch UMLS:C1413684 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:CPSF1 semapv:UnspecifiedMatching OMIM:606027 CPSF1 skos:exactMatch ncbigene:29894 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch UMLS:C1413684 semapv:UnspecifiedMatching OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:CPSF2 semapv:UnspecifiedMatching OMIM:606028 CPSF2 skos:exactMatch ncbigene:53981 semapv:UnspecifiedMatching -OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:CPSF3 semapv:UnspecifiedMatching OMIM:606029 CPSF3 skos:exactMatch ncbigene:51692 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:CPSF3 semapv:UnspecifiedMatching OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:EDC4 semapv:UnspecifiedMatching OMIM:606030 EDC4 skos:exactMatch ncbigene:23644 semapv:UnspecifiedMatching -OMIM:606031 WDR6 skos:exactMatch ncbigene:11180 semapv:UnspecifiedMatching OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:WDR6 semapv:UnspecifiedMatching -OMIM:606032 SRRM2 skos:exactMatch ncbigene:23524 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch ncbigene:11180 semapv:UnspecifiedMatching OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:SRRM2 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch ncbigene:23524 semapv:UnspecifiedMatching OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:POLR2K semapv:UnspecifiedMatching OMIM:606033 POLR2K skos:exactMatch ncbigene:5440 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1425573 semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C1332115 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:ARNT2 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch ncbigene:9915 semapv:UnspecifiedMatching -OMIM:606037 CD96 skos:exactMatch ncbigene:10225 semapv:UnspecifiedMatching OMIM:606037 CD96 skos:exactMatch hgnc.symbol:CD96 semapv:UnspecifiedMatching -OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:LY6G6D semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch ncbigene:10225 semapv:UnspecifiedMatching OMIM:606038 LY6G6D skos:exactMatch ncbigene:58530 semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:LY6G6D semapv:UnspecifiedMatching OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:HCAR3 semapv:UnspecifiedMatching OMIM:606039 HCAR3 skos:exactMatch ncbigene:8843 semapv:UnspecifiedMatching OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:WRAP73 semapv:UnspecifiedMatching OMIM:606040 WDR8 skos:exactMatch ncbigene:49856 semapv:UnspecifiedMatching OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:SPARCL1 semapv:UnspecifiedMatching OMIM:606041 SPARCL1 skos:exactMatch ncbigene:8404 semapv:UnspecifiedMatching -OMIM:606042 MYNN skos:exactMatch ncbigene:55892 semapv:UnspecifiedMatching OMIM:606042 MYNN skos:exactMatch hgnc.symbol:MYNN semapv:UnspecifiedMatching -OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:ZNF331 semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch ncbigene:55892 semapv:UnspecifiedMatching OMIM:606043 ZNF331 skos:exactMatch ncbigene:55422 semapv:UnspecifiedMatching -OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:ZNRD2 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:ZNF331 semapv:UnspecifiedMatching OMIM:606044 ZNRD2 skos:exactMatch ncbigene:10534 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:ZNRD2 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch UMLS:C1825573 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:IFT122 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch ncbigene:55764 semapv:UnspecifiedMatching -OMIM:606046 STX18 skos:exactMatch ncbigene:53407 semapv:UnspecifiedMatching OMIM:606046 STX18 skos:exactMatch hgnc.symbol:STX18 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch ncbigene:53407 semapv:UnspecifiedMatching OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:LILRA5 semapv:UnspecifiedMatching OMIM:606047 LILRA5 skos:exactMatch ncbigene:353514 semapv:UnspecifiedMatching -OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching OMIM:606048 MBOAT7 skos:exactMatch ncbigene:79143 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch hgnc.symbol:UBD semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch ncbigene:10537 semapv:UnspecifiedMatching -OMIM:606051 SERGEF skos:exactMatch ncbigene:26297 semapv:UnspecifiedMatching OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:SERGEF semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch UMLS:C4551877 semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch ncbigene:26297 semapv:UnspecifiedMatching OMIM:606054 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching -OMIM:606055 PCTP skos:exactMatch hgnc.symbol:PCTP semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch UMLS:C4551877 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching OMIM:606055 PCTP skos:exactMatch ncbigene:58488 semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch hgnc.symbol:PCTP semapv:UnspecifiedMatching OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:RAPGEF3 semapv:UnspecifiedMatching OMIM:606057 RAPGEF3 skos:exactMatch ncbigene:10411 semapv:UnspecifiedMatching OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:RAPGEF4 semapv:UnspecifiedMatching @@ -20801,19 +20805,19 @@ OMIM:606059 PKIA skos:exactMatch hgnc.symbol:PKIA semapv:UnspecifiedMatching OMIM:606059 PKIA skos:exactMatch ncbigene:5569 semapv:UnspecifiedMatching OMIM:606060 DNAJC12 skos:exactMatch ncbigene:56521 semapv:UnspecifiedMatching OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:DNAJC12 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch ncbigene:57057 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:TBX20 semapv:UnspecifiedMatching OMIM:606061 TBX20 skos:exactMatch UMLS:C1420609 semapv:UnspecifiedMatching OMIM:606061 TBX20 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:TBX20 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch ncbigene:57057 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch ncbigene:9126 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:SMC3 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C1822780 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C5394608 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:SMC3 semapv:UnspecifiedMatching -OMIM:606063 EXO1 skos:exactMatch ncbigene:9156 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch ncbigene:9126 semapv:UnspecifiedMatching OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:EXO1 semapv:UnspecifiedMatching -OMIM:606064 CD248 skos:exactMatch hgnc.symbol:CD248 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch ncbigene:9156 semapv:UnspecifiedMatching OMIM:606064 CD248 skos:exactMatch ncbigene:57124 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch hgnc.symbol:CD248 semapv:UnspecifiedMatching OMIM:606065 ACKR4 skos:exactMatch UMLS:C1332704 semapv:UnspecifiedMatching OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:ACKR4 semapv:UnspecifiedMatching OMIM:606065 ACKR4 skos:exactMatch ncbigene:51554 semapv:UnspecifiedMatching @@ -20829,76 +20833,76 @@ OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:NDOR1 semapv:UnspecifiedMatching OMIM:606073 NDOR1 skos:exactMatch ncbigene:27158 semapv:UnspecifiedMatching OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:GBGT1 semapv:UnspecifiedMatching OMIM:606074 GBGT1 skos:exactMatch ncbigene:26301 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch ncbigene:56652 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch hgnc.symbol:TWNK semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch ncbigene:56652 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C4015307 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1418458 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1868097 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1868097 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1418458 semapv:UnspecifiedMatching OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:PIK3R3 semapv:UnspecifiedMatching OMIM:606076 PIK3R3 skos:exactMatch ncbigene:8503 semapv:UnspecifiedMatching OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:RBM15 semapv:UnspecifiedMatching OMIM:606077 RBM15 skos:exactMatch ncbigene:64783 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch ncbigene:57591 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:MRTFA semapv:UnspecifiedMatching OMIM:606078 MRTFA skos:exactMatch UMLS:C1422572 semapv:UnspecifiedMatching OMIM:606078 MRTFA skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:MRTFA semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch ncbigene:57591 semapv:UnspecifiedMatching OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:CD163L1 semapv:UnspecifiedMatching OMIM:606079 CD163L1 skos:exactMatch ncbigene:283316 semapv:UnspecifiedMatching OMIM:606080 CHIA skos:exactMatch hgnc.symbol:CHIA semapv:UnspecifiedMatching OMIM:606080 CHIA skos:exactMatch ncbigene:27159 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:TOMM70 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch UMLS:C1420857 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:PBRM1 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch ncbigene:55193 semapv:UnspecifiedMatching -OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:CDC42EP1 semapv:UnspecifiedMatching OMIM:606084 CDC42EP1 skos:exactMatch ncbigene:11135 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:CDC42EP1 semapv:UnspecifiedMatching OMIM:606085 TES skos:exactMatch hgnc.symbol:TES semapv:UnspecifiedMatching OMIM:606085 TES skos:exactMatch ncbigene:26136 semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch UMLS:C1429001 semapv:UnspecifiedMatching OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:EIF5B semapv:UnspecifiedMatching OMIM:606086 EIF5B skos:exactMatch ncbigene:9669 semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch UMLS:C1429001 semapv:UnspecifiedMatching OMIM:606087 SYNM skos:exactMatch hgnc.symbol:SYNM semapv:UnspecifiedMatching OMIM:606087 SYNM skos:exactMatch ncbigene:23336 semapv:UnspecifiedMatching OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:PLA2G4B semapv:UnspecifiedMatching OMIM:606088 PLA2G4B skos:exactMatch ncbigene:100137049 semapv:UnspecifiedMatching -OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:BCYRN1 semapv:UnspecifiedMatching OMIM:606089 BCYRN1 skos:exactMatch ncbigene:618 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:BCYRN1 semapv:UnspecifiedMatching OMIM:606090 CROT skos:exactMatch hgnc.symbol:CROT semapv:UnspecifiedMatching OMIM:606090 CROT skos:exactMatch ncbigene:54677 semapv:UnspecifiedMatching OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:SIGLEC10 semapv:UnspecifiedMatching OMIM:606091 SIGLEC10 skos:exactMatch ncbigene:89790 semapv:UnspecifiedMatching -OMIM:606092 DNAJC14 skos:exactMatch ncbigene:85406 semapv:UnspecifiedMatching OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:DNAJC14 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch ncbigene:85406 semapv:UnspecifiedMatching OMIM:606093 PPIG skos:exactMatch hgnc.symbol:PPIG semapv:UnspecifiedMatching OMIM:606093 PPIG skos:exactMatch ncbigene:9360 semapv:UnspecifiedMatching -OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:SIGLEC12 semapv:UnspecifiedMatching OMIM:606094 SIGLEC12 skos:exactMatch ncbigene:89858 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:SIGLEC12 semapv:UnspecifiedMatching OMIM:606095 PPIH skos:exactMatch hgnc.symbol:PPIH semapv:UnspecifiedMatching OMIM:606095 PPIH skos:exactMatch ncbigene:10465 semapv:UnspecifiedMatching OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:LGALS12 semapv:UnspecifiedMatching OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch ncbigene:85329 semapv:UnspecifiedMatching -OMIM:606097 PIGN skos:exactMatch ncbigene:23556 semapv:UnspecifiedMatching OMIM:606097 PIGN skos:exactMatch hgnc.symbol:PIGN semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch ncbigene:23556 semapv:UnspecifiedMatching OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:SNX6 semapv:UnspecifiedMatching OMIM:606098 SNX6 skos:exactMatch ncbigene:58533 semapv:UnspecifiedMatching -OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:LGALS8 semapv:UnspecifiedMatching OMIM:606099 LGALS8 skos:exactMatch ncbigene:3964 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:LGALS8 semapv:UnspecifiedMatching OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:ADGRE2 semapv:UnspecifiedMatching OMIM:606100 ADGRE2 skos:exactMatch ncbigene:30817 semapv:UnspecifiedMatching OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:ADGRE3 semapv:UnspecifiedMatching OMIM:606101 ADGRE3 skos:exactMatch ncbigene:84658 semapv:UnspecifiedMatching -OMIM:606102 PIP5K1C skos:exactMatch ncbigene:23396 semapv:UnspecifiedMatching OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:PIP5K1C semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch ncbigene:23396 semapv:UnspecifiedMatching OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:SESN1 semapv:UnspecifiedMatching OMIM:606103 SESN1 skos:exactMatch ncbigene:27244 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch UMLS:C1822758 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:SLC44A1 semapv:UnspecifiedMatching OMIM:606105 SLC44A1 skos:exactMatch ncbigene:23446 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch UMLS:C1822758 semapv:UnspecifiedMatching OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:SLC44A2 semapv:UnspecifiedMatching OMIM:606106 SLC44A2 skos:exactMatch ncbigene:57153 semapv:UnspecifiedMatching OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:SLC44A4 semapv:UnspecifiedMatching @@ -20907,24 +20911,24 @@ OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:PPM1A semapv:UnspecifiedMatching OMIM:606108 PPM1A skos:exactMatch ncbigene:5494 semapv:UnspecifiedMatching OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:NUDCD1 semapv:UnspecifiedMatching OMIM:606109 NUDCD1 skos:exactMatch ncbigene:84955 semapv:UnspecifiedMatching -OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:LYNX1 semapv:UnspecifiedMatching OMIM:606110 LYNX1 skos:exactMatch ncbigene:66004 semapv:UnspecifiedMatching -OMIM:606111 MCHR2 skos:exactMatch ncbigene:84539 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:LYNX1 semapv:UnspecifiedMatching OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:MCHR2 semapv:UnspecifiedMatching -OMIM:606112 RPP14 skos:exactMatch ncbigene:11102 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch ncbigene:84539 semapv:UnspecifiedMatching OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:RPP14 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch ncbigene:11102 semapv:UnspecifiedMatching OMIM:606113 POP7 skos:exactMatch UMLS:C1426553 semapv:UnspecifiedMatching OMIM:606113 POP7 skos:exactMatch hgnc.symbol:POP7 semapv:UnspecifiedMatching OMIM:606113 POP7 skos:exactMatch ncbigene:10248 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch ncbigene:10775 semapv:UnspecifiedMatching OMIM:606114 POP4 skos:exactMatch UMLS:C1428930 semapv:UnspecifiedMatching OMIM:606114 POP4 skos:exactMatch hgnc.symbol:POP4 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch ncbigene:10775 semapv:UnspecifiedMatching OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:RPP30 semapv:UnspecifiedMatching OMIM:606115 RPP30 skos:exactMatch ncbigene:10556 semapv:UnspecifiedMatching OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:RPP38 semapv:UnspecifiedMatching OMIM:606116 RPP38 skos:exactMatch ncbigene:10557 semapv:UnspecifiedMatching -OMIM:606117 RPP40 skos:exactMatch ncbigene:10799 semapv:UnspecifiedMatching OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:RPP40 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch ncbigene:10799 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch UMLS:C1423606 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:HPS3 semapv:UnspecifiedMatching @@ -20933,136 +20937,136 @@ OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:SLURP1 semapv:UnspecifiedMatching OMIM:606119 SLURP1 skos:exactMatch ncbigene:57152 semapv:UnspecifiedMatching OMIM:606121 CRCP skos:exactMatch hgnc.symbol:CRCP semapv:UnspecifiedMatching OMIM:606121 CRCP skos:exactMatch ncbigene:27297 semapv:UnspecifiedMatching -OMIM:606122 TNFRSF19 skos:exactMatch ncbigene:55504 semapv:UnspecifiedMatching OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:TNFRSF19 semapv:UnspecifiedMatching -OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:TRIM17 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch ncbigene:55504 semapv:UnspecifiedMatching OMIM:606123 RNF16 skos:exactMatch ncbigene:51127 semapv:UnspecifiedMatching -OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:TRIM49 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:TRIM17 semapv:UnspecifiedMatching OMIM:606124 RNF18 skos:exactMatch ncbigene:57093 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:TRIM49 semapv:UnspecifiedMatching OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:TRIM8 semapv:UnspecifiedMatching OMIM:606125 TRIM8 skos:exactMatch ncbigene:81603 semapv:UnspecifiedMatching OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:BCL2L14 semapv:UnspecifiedMatching OMIM:606126 BCL2L14 skos:exactMatch ncbigene:79370 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch UMLS:C1423951 semapv:UnspecifiedMatching -OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching OMIM:606130 RNF26 skos:exactMatch ncbigene:79102 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:TRIM63 semapv:UnspecifiedMatching OMIM:606131 TRIM63 skos:exactMatch ncbigene:84676 semapv:UnspecifiedMatching OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:CDC42EP2 semapv:UnspecifiedMatching OMIM:606132 CDC42EP2 skos:exactMatch ncbigene:10435 semapv:UnspecifiedMatching -OMIM:606133 CDC42EP3 skos:exactMatch ncbigene:10602 semapv:UnspecifiedMatching OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:CDC42EP3 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch ncbigene:10602 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch ncbigene:51455 semapv:UnspecifiedMatching OMIM:606134 REV1 skos:exactMatch UMLS:C1826797 semapv:UnspecifiedMatching OMIM:606134 REV1 skos:exactMatch hgnc.symbol:REV1 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch ncbigene:51455 semapv:UnspecifiedMatching -OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:KLK14 semapv:UnspecifiedMatching OMIM:606135 KLK14 skos:exactMatch ncbigene:43847 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:KLK14 semapv:UnspecifiedMatching OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:RASAL2 semapv:UnspecifiedMatching OMIM:606136 RASAL2 skos:exactMatch ncbigene:9462 semapv:UnspecifiedMatching OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:CGREF1 semapv:UnspecifiedMatching OMIM:606137 CGREF1 skos:exactMatch ncbigene:10669 semapv:UnspecifiedMatching -OMIM:606138 CGRRF1 skos:exactMatch ncbigene:10668 semapv:UnspecifiedMatching OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:CGRRF1 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch ncbigene:10668 semapv:UnspecifiedMatching OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:KLF16 semapv:UnspecifiedMatching OMIM:606139 KLF16 skos:exactMatch ncbigene:83855 semapv:UnspecifiedMatching -OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:XPO7 semapv:UnspecifiedMatching OMIM:606140 XPO7 skos:exactMatch ncbigene:23039 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:XPO7 semapv:UnspecifiedMatching OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:RANBP17 semapv:UnspecifiedMatching OMIM:606141 RANBP17 skos:exactMatch ncbigene:64901 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch ncbigene:56606 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:SLC2A9 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225532 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225531 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch UMLS:C1421998 semapv:UnspecifiedMatching -OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:FZD3 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225531 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225532 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:SLC2A9 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch ncbigene:56606 semapv:UnspecifiedMatching OMIM:606143 FZD3 skos:exactMatch ncbigene:7976 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:FZD3 semapv:UnspecifiedMatching OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:RAB23 semapv:UnspecifiedMatching OMIM:606144 RAB23 skos:exactMatch ncbigene:51715 semapv:UnspecifiedMatching OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:SLC2A10 semapv:UnspecifiedMatching OMIM:606145 SLC2A10 skos:exactMatch ncbigene:81031 semapv:UnspecifiedMatching -OMIM:606146 FZD8 skos:exactMatch ncbigene:8325 semapv:UnspecifiedMatching OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:FZD8 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch ncbigene:8325 semapv:UnspecifiedMatching OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:FZD10 semapv:UnspecifiedMatching OMIM:606147 FZD10 skos:exactMatch ncbigene:11211 semapv:UnspecifiedMatching -OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:FADS1 semapv:UnspecifiedMatching OMIM:606148 FADS1 skos:exactMatch ncbigene:3992 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:FADS1 semapv:UnspecifiedMatching OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:FADS2 semapv:UnspecifiedMatching OMIM:606149 FADS2 skos:exactMatch ncbigene:9415 semapv:UnspecifiedMatching OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:FADS3 semapv:UnspecifiedMatching OMIM:606150 FADS3 skos:exactMatch ncbigene:3995 semapv:UnspecifiedMatching -OMIM:606151 BBS2 skos:exactMatch ncbigene:583 semapv:UnspecifiedMatching OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:BBS2 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch ncbigene:583 semapv:UnspecifiedMatching OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:SLC19A3 semapv:UnspecifiedMatching OMIM:606152 SLC19A3 skos:exactMatch ncbigene:80704 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch UMLS:C1412659 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch ncbigene:514 semapv:UnspecifiedMatching OMIM:606153 ATP5F1E skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch UMLS:C1412659 semapv:UnspecifiedMatching OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:ATP5F1E semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch ncbigene:514 semapv:UnspecifiedMatching OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:MUC16 semapv:UnspecifiedMatching OMIM:606154 MUC16 skos:exactMatch ncbigene:94025 semapv:UnspecifiedMatching -OMIM:606157 PANK2 skos:exactMatch ncbigene:80025 semapv:UnspecifiedMatching OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:PANK2 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch ncbigene:80025 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C1423761 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C1720863 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C4016959 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:BSCL2 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch ncbigene:26580 semapv:UnspecifiedMatching -OMIM:606160 PANK1 skos:exactMatch ncbigene:53354 semapv:UnspecifiedMatching OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:PANK1 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch ncbigene:53354 semapv:UnspecifiedMatching OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:PANK3 semapv:UnspecifiedMatching OMIM:606161 PANK3 skos:exactMatch ncbigene:79646 semapv:UnspecifiedMatching OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:PANK4 semapv:UnspecifiedMatching OMIM:606162 PANK4 skos:exactMatch ncbigene:55229 semapv:UnspecifiedMatching -OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching OMIM:606165 BOLL skos:exactMatch hgnc.symbol:BOLL semapv:UnspecifiedMatching OMIM:606165 BOLL skos:exactMatch ncbigene:66037 semapv:UnspecifiedMatching -OMIM:606167 GPR132 skos:exactMatch ncbigene:29933 semapv:UnspecifiedMatching OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:GPR132 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch ncbigene:29933 semapv:UnspecifiedMatching OMIM:606168 DDX20 skos:exactMatch UMLS:C1413960 semapv:UnspecifiedMatching OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:DDX20 semapv:UnspecifiedMatching OMIM:606168 DDX20 skos:exactMatch ncbigene:11218 semapv:UnspecifiedMatching -OMIM:606170 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching OMIM:606170 genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching +OMIM:606170 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:TRS-TGA2-1 semapv:UnspecifiedMatching OMIM:606171 TRS-TGA2-1 skos:exactMatch ncbigene:94017 semapv:UnspecifiedMatching OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:TRS-TGA4-1 semapv:UnspecifiedMatching OMIM:606172 TRS-TGA4-1 skos:exactMatch ncbigene:23540 semapv:UnspecifiedMatching -OMIM:606173 GRPEL1 skos:exactMatch ncbigene:80273 semapv:UnspecifiedMatching OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:GRPEL1 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch ncbigene:80273 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching -OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching OMIM:606178 HHIP skos:exactMatch ncbigene:64399 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:EXOSC9 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch ncbigene:5393 semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C1539371 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:EXOSC9 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch ncbigene:5393 semapv:UnspecifiedMatching OMIM:606181 DDX24 skos:exactMatch UMLS:C1421913 semapv:UnspecifiedMatching OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:DDX24 semapv:UnspecifiedMatching OMIM:606181 DDX24 skos:exactMatch ncbigene:57062 semapv:UnspecifiedMatching OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:TNFSF9 semapv:UnspecifiedMatching OMIM:606182 TNFSF9 skos:exactMatch ncbigene:8744 semapv:UnspecifiedMatching -OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:ADAMTS12 semapv:UnspecifiedMatching OMIM:606184 ADAMTS12 skos:exactMatch ncbigene:81792 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:ADAMTS12 semapv:UnspecifiedMatching OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:TP53INP1 semapv:UnspecifiedMatching OMIM:606185 TP53INP1 skos:exactMatch ncbigene:94241 semapv:UnspecifiedMatching -OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:CACYBP semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:ADAM28 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch ncbigene:10863 semapv:UnspecifiedMatching OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:CRIM1 semapv:UnspecifiedMatching OMIM:606189 CRIM1 skos:exactMatch ncbigene:51232 semapv:UnspecifiedMatching -OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching OMIM:606191 FNBP1 skos:exactMatch ncbigene:23048 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:BTNL3 semapv:UnspecifiedMatching OMIM:606192 BTNL3 skos:exactMatch ncbigene:10917 semapv:UnspecifiedMatching OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:SLC13A1 semapv:UnspecifiedMatching @@ -21071,22 +21075,22 @@ OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:KRT23 semapv:UnspecifiedMatching OMIM:606194 KRT23 skos:exactMatch ncbigene:25984 semapv:UnspecifiedMatching OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:IRX5 semapv:UnspecifiedMatching OMIM:606195 IRX5 skos:exactMatch ncbigene:10265 semapv:UnspecifiedMatching -OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:IRX6 semapv:UnspecifiedMatching OMIM:606196 IRX6 skos:exactMatch ncbigene:79190 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:IRX6 semapv:UnspecifiedMatching OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:IRX1 semapv:UnspecifiedMatching OMIM:606197 IRX1 skos:exactMatch ncbigene:79192 semapv:UnspecifiedMatching -OMIM:606198 IRX2 skos:exactMatch ncbigene:153572 semapv:UnspecifiedMatching OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:IRX2 semapv:UnspecifiedMatching -OMIM:606199 IRX4 skos:exactMatch ncbigene:50805 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch ncbigene:153572 semapv:UnspecifiedMatching OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:IRX4 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch UMLS:C1424440 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:BHLHE41 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch ncbigene:50805 semapv:UnspecifiedMatching OMIM:606200 BHLHE41 skos:exactMatch ncbigene:79365 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch ncbigene:7466 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:BHLHE41 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch UMLS:C1424440 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:WFS1 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C4016960 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C4551693 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C4016960 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch ncbigene:7466 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C3280358 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C1421501 semapv:UnspecifiedMatching @@ -21095,19 +21099,19 @@ OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:SLC45A2 semapv:UnspecifiedMatchi OMIM:606202 SLC45A2 skos:exactMatch ncbigene:51151 semapv:UnspecifiedMatching OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:GAB2 semapv:UnspecifiedMatching OMIM:606203 GAB2 skos:exactMatch ncbigene:9846 semapv:UnspecifiedMatching -OMIM:606204 LY6D skos:exactMatch ncbigene:8581 semapv:UnspecifiedMatching OMIM:606204 LY6D skos:exactMatch hgnc.symbol:LY6D semapv:UnspecifiedMatching -OMIM:606205 SLC6A7 skos:exactMatch ncbigene:6534 semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch ncbigene:8581 semapv:UnspecifiedMatching OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:SLC6A7 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch ncbigene:6534 semapv:UnspecifiedMatching OMIM:606206 MT4 skos:exactMatch hgnc.symbol:MT4 semapv:UnspecifiedMatching OMIM:606206 MT4 skos:exactMatch ncbigene:84560 semapv:UnspecifiedMatching -OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:SLC28A1 semapv:UnspecifiedMatching OMIM:606207 SLC28A1 skos:exactMatch ncbigene:9154 semapv:UnspecifiedMatching -OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:SLC28A2 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:SLC28A1 semapv:UnspecifiedMatching OMIM:606208 SLC28A2 skos:exactMatch ncbigene:9153 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:SLC28A2 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch UMLS:C1823893 semapv:UnspecifiedMatching OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:YKT6 semapv:UnspecifiedMatching OMIM:606209 YKT6 skos:exactMatch ncbigene:10652 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch UMLS:C1823893 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C1423899 semapv:UnspecifiedMatching @@ -21115,38 +21119,38 @@ OMIM:606210 SELENON skos:exactMatch hgnc.symbol:SELENON semapv:UnspecifiedMatchi OMIM:606210 SELENON skos:exactMatch ncbigene:57190 semapv:UnspecifiedMatching OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:SIRT6 semapv:UnspecifiedMatching OMIM:606211 SIRT6 skos:exactMatch ncbigene:51548 semapv:UnspecifiedMatching -OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:SIRT7 semapv:UnspecifiedMatching OMIM:606212 SIRT7 skos:exactMatch ncbigene:51547 semapv:UnspecifiedMatching -OMIM:606213 SSR3 skos:exactMatch ncbigene:6747 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:SIRT7 semapv:UnspecifiedMatching OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:SSR3 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch ncbigene:6747 semapv:UnspecifiedMatching OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:SPTBN4 semapv:UnspecifiedMatching OMIM:606214 SPTBN4 skos:exactMatch ncbigene:57731 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:MSRB1 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch ncbigene:51734 semapv:UnspecifiedMatching OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:SEPHS2 semapv:UnspecifiedMatching OMIM:606218 SEPHS2 skos:exactMatch ncbigene:22928 semapv:UnspecifiedMatching -OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:TRAP1 semapv:UnspecifiedMatching OMIM:606219 TRAP1 skos:exactMatch ncbigene:10131 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch ncbigene:22806 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:IKZF3 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:TRAP1 semapv:UnspecifiedMatching OMIM:606221 IKZF3 skos:exactMatch UMLS:C1825590 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:IKZF3 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch ncbigene:22806 semapv:UnspecifiedMatching OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:IGSF6 semapv:UnspecifiedMatching OMIM:606222 IGSF6 skos:exactMatch ncbigene:10261 semapv:UnspecifiedMatching OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:PSMD2 semapv:UnspecifiedMatching OMIM:606223 PSMD2 skos:exactMatch ncbigene:5708 semapv:UnspecifiedMatching OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:NT5C3A semapv:UnspecifiedMatching OMIM:606224 NT5C3A skos:exactMatch ncbigene:51251 semapv:UnspecifiedMatching -OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:TAS1R1 semapv:UnspecifiedMatching OMIM:606225 TAS1R1 skos:exactMatch ncbigene:80835 semapv:UnspecifiedMatching -OMIM:606226 TAS1R2 skos:exactMatch ncbigene:80834 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:TAS1R1 semapv:UnspecifiedMatching OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:TAS1R2 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch ncbigene:80834 semapv:UnspecifiedMatching OMIM:606227 MFRP skos:exactMatch hgnc.symbol:MFRP semapv:UnspecifiedMatching OMIM:606227 MFRP skos:exactMatch ncbigene:83552 semapv:UnspecifiedMatching OMIM:606228 AGO1 skos:exactMatch UMLS:C1414332 semapv:UnspecifiedMatching OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:AGO1 semapv:UnspecifiedMatching OMIM:606228 AGO1 skos:exactMatch ncbigene:26523 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:AGO2 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch ncbigene:27161 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:AGO2 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch UMLS:C1414333 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch UMLS:C5436892 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C1422550 semapv:UnspecifiedMatching @@ -21155,25 +21159,25 @@ OMIM:606230 SHANK3 skos:exactMatch UMLS:C3151380 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:SHANK3 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch ncbigene:85358 semapv:UnspecifiedMatching -OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:APPL2 semapv:UnspecifiedMatching OMIM:606231 APPL2 skos:exactMatch ncbigene:55198 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:APPL2 semapv:UnspecifiedMatching OMIM:606232 phelan-mcdermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching OMIM:606232 phelan-mcdermid syndrome skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching -OMIM:606233 PROK1 skos:exactMatch ncbigene:84432 semapv:UnspecifiedMatching OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:PROK1 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch ncbigene:84432 semapv:UnspecifiedMatching OMIM:606234 IKZF2 skos:exactMatch UMLS:C1825589 semapv:UnspecifiedMatching OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:IKZF2 semapv:UnspecifiedMatching OMIM:606234 IKZF2 skos:exactMatch ncbigene:22807 semapv:UnspecifiedMatching OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:TXNRD3 semapv:UnspecifiedMatching OMIM:606235 TXNRD3 skos:exactMatch ncbigene:114112 semapv:UnspecifiedMatching -OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:ASPSCR1 semapv:UnspecifiedMatching OMIM:606236 ASPSCR1 skos:exactMatch ncbigene:79058 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:ASPSCR1 semapv:UnspecifiedMatching OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:TGFBRAP1 semapv:UnspecifiedMatching OMIM:606237 TGFBRAP1 skos:exactMatch ncbigene:9392 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch ncbigene:64376 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:IKZF5 semapv:UnspecifiedMatching OMIM:606238 IKZF5 skos:exactMatch UMLS:C1825591 semapv:UnspecifiedMatching OMIM:606238 IKZF5 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:IKZF5 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch ncbigene:64376 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch UMLS:C1421861 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:IKZF4 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch ncbigene:64375 semapv:UnspecifiedMatching @@ -21182,53 +21186,53 @@ OMIM:606241 DICER1 skos:exactMatch ncbigene:23405 semapv:UnspecifiedMatching OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching OMIM:606244 STAM2 skos:exactMatch ncbigene:10254 semapv:UnspecifiedMatching OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:STAM2 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch UMLS:C1539902 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:SUZ12 semapv:UnspecifiedMatching OMIM:606245 SUZ12 skos:exactMatch ncbigene:23512 semapv:UnspecifiedMatching -OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:JAZF1 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch UMLS:C1539902 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching OMIM:606246 JAZF1 skos:exactMatch ncbigene:221895 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:JAZF1 semapv:UnspecifiedMatching OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:STAMBP semapv:UnspecifiedMatching OMIM:606247 STAMBP skos:exactMatch ncbigene:10617 semapv:UnspecifiedMatching -OMIM:606248 QPRT skos:exactMatch ncbigene:23475 semapv:UnspecifiedMatching OMIM:606248 QPRT skos:exactMatch hgnc.symbol:QPRT semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch ncbigene:23475 semapv:UnspecifiedMatching OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:WNK2 semapv:UnspecifiedMatching OMIM:606249 WNK2 skos:exactMatch ncbigene:65268 semapv:UnspecifiedMatching OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:GALNT8 semapv:UnspecifiedMatching OMIM:606250 GALNT8 skos:exactMatch ncbigene:26290 semapv:UnspecifiedMatching -OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:GALNT9 semapv:UnspecifiedMatching OMIM:606251 GALNT9 skos:exactMatch ncbigene:50614 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:TIRAP semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C1970686 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:GALNT9 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C1424810 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C1970686 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C1424810 semapv:UnspecifiedMatching -OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:TIRAP semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching OMIM:606254 SELENOF skos:exactMatch ncbigene:9403 semapv:UnspecifiedMatching -OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching OMIM:606259 BRMS1 skos:exactMatch ncbigene:25855 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:MTMR9 semapv:UnspecifiedMatching OMIM:606260 MTMR9 skos:exactMatch ncbigene:66036 semapv:UnspecifiedMatching -OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:NUDT6 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:CLEC7A semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch ncbigene:64581 semapv:UnspecifiedMatching OMIM:606265 EP400 skos:exactMatch hgnc.symbol:EP400 semapv:UnspecifiedMatching OMIM:606265 EP400 skos:exactMatch ncbigene:57634 semapv:UnspecifiedMatching -OMIM:606266 BMF skos:exactMatch hgnc.symbol:BMF semapv:UnspecifiedMatching OMIM:606266 BMF skos:exactMatch ncbigene:90427 semapv:UnspecifiedMatching -OMIM:606267 WNT16 skos:exactMatch ncbigene:51384 semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch hgnc.symbol:BMF semapv:UnspecifiedMatching OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:WNT16 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch ncbigene:51384 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch ncbigene:80326 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1422222 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1835492 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:WNT10A semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch ncbigene:80326 semapv:UnspecifiedMatching -OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:TNFRSF13C semapv:UnspecifiedMatching OMIM:606269 TNFRSF13C skos:exactMatch ncbigene:115650 semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:TNFRSF13C semapv:UnspecifiedMatching OMIM:606270 TLR10 skos:exactMatch UMLS:C1423634 semapv:UnspecifiedMatching OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:TLR10 semapv:UnspecifiedMatching OMIM:606270 TLR10 skos:exactMatch ncbigene:81793 semapv:UnspecifiedMatching @@ -21238,9 +21242,9 @@ OMIM:606272 CTNS skos:exactMatch hgnc.symbol:CTNS semapv:UnspecifiedMatching OMIM:606272 CTNS skos:exactMatch ncbigene:1497 semapv:UnspecifiedMatching OMIM:606273 EIF2B3 skos:exactMatch ncbigene:8891 semapv:UnspecifiedMatching OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:EIF2B3 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C1413757 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:CSNK1G1 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C1413757 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch ncbigene:53944 semapv:UnspecifiedMatching OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:CRTAC1 semapv:UnspecifiedMatching OMIM:606276 CRTAC1 skos:exactMatch ncbigene:55118 semapv:UnspecifiedMatching @@ -21255,196 +21259,196 @@ OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:NCAPG semapv:UnspecifiedMatching OMIM:606280 NCAPG skos:exactMatch ncbigene:64151 semapv:UnspecifiedMatching OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:RAB38 semapv:UnspecifiedMatching OMIM:606281 RAB38 skos:exactMatch ncbigene:23682 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch ncbigene:114815 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch ncbigene:57537 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching OMIM:606284 SORCS2 skos:exactMatch UMLS:C1539804 semapv:UnspecifiedMatching OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:SORCS2 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch ncbigene:57537 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch UMLS:C1539805 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:SORCS3 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch ncbigene:22986 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch ncbigene:55510 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch UMLS:C1425700 semapv:UnspecifiedMatching OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:DDX43 semapv:UnspecifiedMatching -OMIM:606288 PCDHGA1 skos:exactMatch ncbigene:56114 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch UMLS:C1425700 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch ncbigene:55510 semapv:UnspecifiedMatching OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:PCDHGA1 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch ncbigene:56114 semapv:UnspecifiedMatching OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:PCDHGA2 semapv:UnspecifiedMatching OMIM:606289 PCDHGA2 skos:exactMatch ncbigene:56113 semapv:UnspecifiedMatching -OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:PCDHGA3 semapv:UnspecifiedMatching OMIM:606290 PCDHGA3 skos:exactMatch ncbigene:56112 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:PCDHGA3 semapv:UnspecifiedMatching OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:PCDHGA4 semapv:UnspecifiedMatching OMIM:606291 PCDHGA4 skos:exactMatch ncbigene:56111 semapv:UnspecifiedMatching OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:PCDHGA5 semapv:UnspecifiedMatching OMIM:606292 PCDHGA5 skos:exactMatch ncbigene:56110 semapv:UnspecifiedMatching -OMIM:606293 PCDHGA6 skos:exactMatch ncbigene:56109 semapv:UnspecifiedMatching OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:PCDHGA6 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch ncbigene:56109 semapv:UnspecifiedMatching OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:PCDHGA7 semapv:UnspecifiedMatching OMIM:606294 PCDHGA7 skos:exactMatch ncbigene:56108 semapv:UnspecifiedMatching -OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:PCDHGA8 semapv:UnspecifiedMatching OMIM:606295 PCDHGA8 skos:exactMatch ncbigene:9708 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:PCDHGA8 semapv:UnspecifiedMatching OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:PCDHGA9 semapv:UnspecifiedMatching OMIM:606296 PCDHGA9 skos:exactMatch ncbigene:56107 semapv:UnspecifiedMatching -OMIM:606297 PCDHGA10 skos:exactMatch ncbigene:56106 semapv:UnspecifiedMatching OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:PCDHGA10 semapv:UnspecifiedMatching -OMIM:606298 PCDHGA11 skos:exactMatch ncbigene:56105 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch ncbigene:56106 semapv:UnspecifiedMatching OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:PCDHGA11 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch ncbigene:56105 semapv:UnspecifiedMatching OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:PCDHGB1 semapv:UnspecifiedMatching OMIM:606299 PCDHGB1 skos:exactMatch ncbigene:56104 semapv:UnspecifiedMatching -OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:PCDHGB2 semapv:UnspecifiedMatching OMIM:606300 PCDHGB2 skos:exactMatch ncbigene:56103 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:PCDHGB2 semapv:UnspecifiedMatching OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:PCDHGB3 semapv:UnspecifiedMatching OMIM:606301 PCDHGB3 skos:exactMatch ncbigene:56102 semapv:UnspecifiedMatching OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:PCDHGB5 semapv:UnspecifiedMatching OMIM:606302 PCDHGB5 skos:exactMatch ncbigene:56101 semapv:UnspecifiedMatching -OMIM:606303 PCDHGB6 skos:exactMatch ncbigene:56100 semapv:UnspecifiedMatching OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:PCDHGB6 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch ncbigene:56100 semapv:UnspecifiedMatching OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:PCDHGB7 semapv:UnspecifiedMatching OMIM:606304 PCDHGB7 skos:exactMatch ncbigene:56099 semapv:UnspecifiedMatching -OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:PCDHGC4 semapv:UnspecifiedMatching OMIM:606305 PCDHGC4 skos:exactMatch ncbigene:56098 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:PCDHGC4 semapv:UnspecifiedMatching OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:PCDHGC5 semapv:UnspecifiedMatching OMIM:606306 PCDHGC5 skos:exactMatch ncbigene:56097 semapv:UnspecifiedMatching OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:PCDHA1 semapv:UnspecifiedMatching OMIM:606307 PCDHA1 skos:exactMatch ncbigene:56147 semapv:UnspecifiedMatching -OMIM:606308 PCDHA2 skos:exactMatch ncbigene:56146 semapv:UnspecifiedMatching OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:PCDHA2 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch ncbigene:56146 semapv:UnspecifiedMatching OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:PCDHA3 semapv:UnspecifiedMatching OMIM:606309 PCDHA3 skos:exactMatch ncbigene:56145 semapv:UnspecifiedMatching -OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:PCDHA4 semapv:UnspecifiedMatching OMIM:606310 PCDHA4 skos:exactMatch ncbigene:56144 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:PCDHA4 semapv:UnspecifiedMatching OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:PCDHA5 semapv:UnspecifiedMatching OMIM:606311 PCDHA5 skos:exactMatch ncbigene:56143 semapv:UnspecifiedMatching OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:PCDHA6 semapv:UnspecifiedMatching OMIM:606312 PCDHA6 skos:exactMatch ncbigene:56142 semapv:UnspecifiedMatching -OMIM:606313 PCDHA7 skos:exactMatch ncbigene:56141 semapv:UnspecifiedMatching OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:PCDHA7 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch ncbigene:56141 semapv:UnspecifiedMatching OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:PCDHA8 semapv:UnspecifiedMatching OMIM:606314 PCDHA8 skos:exactMatch ncbigene:56140 semapv:UnspecifiedMatching -OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:PCDHA9 semapv:UnspecifiedMatching OMIM:606315 PCDHA9 skos:exactMatch ncbigene:9752 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:PCDHA9 semapv:UnspecifiedMatching OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:PCDHA10 semapv:UnspecifiedMatching OMIM:606316 PCDHA10 skos:exactMatch ncbigene:56139 semapv:UnspecifiedMatching OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:PCDHA11 semapv:UnspecifiedMatching OMIM:606317 PCDHA11 skos:exactMatch ncbigene:56138 semapv:UnspecifiedMatching OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:PCDHA12 semapv:UnspecifiedMatching OMIM:606318 PCDHA12 skos:exactMatch ncbigene:56137 semapv:UnspecifiedMatching -OMIM:606319 PCDHA13 skos:exactMatch ncbigene:56136 semapv:UnspecifiedMatching OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:PCDHA13 semapv:UnspecifiedMatching -OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:PCDHAC1 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch ncbigene:56136 semapv:UnspecifiedMatching OMIM:606320 PCDHAC1 skos:exactMatch ncbigene:56135 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:PCDHAC1 semapv:UnspecifiedMatching OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:PCDHAC2 semapv:UnspecifiedMatching OMIM:606321 PCDHAC2 skos:exactMatch ncbigene:56134 semapv:UnspecifiedMatching OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:CYFIP1 semapv:UnspecifiedMatching OMIM:606322 CYFIP1 skos:exactMatch ncbigene:23191 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatching OMIM:606323 CYFIP2 skos:exactMatch UMLS:C1422187 semapv:UnspecifiedMatching OMIM:606323 CYFIP2 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching -OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching OMIM:606326 SIX6 skos:exactMatch ncbigene:4990 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:PCDHB1 semapv:UnspecifiedMatching OMIM:606327 PCDHB1 skos:exactMatch ncbigene:29930 semapv:UnspecifiedMatching OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:PCDHB2 semapv:UnspecifiedMatching OMIM:606328 PCDHB2 skos:exactMatch ncbigene:56133 semapv:UnspecifiedMatching OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:PCDHB3 semapv:UnspecifiedMatching OMIM:606329 PCDHB3 skos:exactMatch ncbigene:56132 semapv:UnspecifiedMatching -OMIM:606330 PCDHB4 skos:exactMatch ncbigene:56131 semapv:UnspecifiedMatching OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:PCDHB4 semapv:UnspecifiedMatching -OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:PCDHB5 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch ncbigene:56131 semapv:UnspecifiedMatching OMIM:606331 PCDHB5 skos:exactMatch ncbigene:26167 semapv:UnspecifiedMatching -OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:PCDHB6 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:PCDHB5 semapv:UnspecifiedMatching OMIM:606332 PCDHB6 skos:exactMatch ncbigene:56130 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:PCDHB6 semapv:UnspecifiedMatching OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:PCDHB7 semapv:UnspecifiedMatching OMIM:606333 PCDHB7 skos:exactMatch ncbigene:56129 semapv:UnspecifiedMatching OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:PCDHB8 semapv:UnspecifiedMatching OMIM:606334 PCDHB8 skos:exactMatch ncbigene:56128 semapv:UnspecifiedMatching -OMIM:606335 PCDHB9 skos:exactMatch ncbigene:56127 semapv:UnspecifiedMatching OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:PCDHB9 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch ncbigene:56127 semapv:UnspecifiedMatching OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:PCDHB10 semapv:UnspecifiedMatching OMIM:606336 PCDHB10 skos:exactMatch ncbigene:56126 semapv:UnspecifiedMatching -OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:PCDHB11 semapv:UnspecifiedMatching OMIM:606337 PCDHB11 skos:exactMatch ncbigene:56125 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:PCDHB11 semapv:UnspecifiedMatching OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:PCDHB12 semapv:UnspecifiedMatching OMIM:606338 PCDHB12 skos:exactMatch ncbigene:56124 semapv:UnspecifiedMatching OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:PCDHB13 semapv:UnspecifiedMatching OMIM:606339 PCDHB13 skos:exactMatch ncbigene:56123 semapv:UnspecifiedMatching -OMIM:606340 PCDHB14 skos:exactMatch ncbigene:56122 semapv:UnspecifiedMatching OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:PCDHB14 semapv:UnspecifiedMatching -OMIM:606341 PCDHB15 skos:exactMatch ncbigene:56121 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch ncbigene:56122 semapv:UnspecifiedMatching OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:PCDHB15 semapv:UnspecifiedMatching -OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:SIX4 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch ncbigene:56121 semapv:UnspecifiedMatching OMIM:606342 SIX4 skos:exactMatch ncbigene:51804 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:SIX4 semapv:UnspecifiedMatching OMIM:606343 POLL skos:exactMatch hgnc.symbol:POLL semapv:UnspecifiedMatching OMIM:606343 POLL skos:exactMatch ncbigene:27343 semapv:UnspecifiedMatching OMIM:606344 POLM skos:exactMatch hgnc.symbol:POLM semapv:UnspecifiedMatching OMIM:606344 POLM skos:exactMatch ncbigene:27434 semapv:UnspecifiedMatching OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:PCDHB16 semapv:UnspecifiedMatching OMIM:606345 PCDHB16 skos:exactMatch ncbigene:57717 semapv:UnspecifiedMatching -OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:PSTPIP1 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching OMIM:606349 gambling, pathologic skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching OMIM:606350 APTX skos:exactMatch hgnc.symbol:APTX semapv:UnspecifiedMatching OMIM:606350 APTX skos:exactMatch ncbigene:54840 semapv:UnspecifiedMatching OMIM:606351 ESPN skos:exactMatch hgnc.symbol:ESPN semapv:UnspecifiedMatching OMIM:606351 ESPN skos:exactMatch ncbigene:83715 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch ncbigene:57679 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:ALS2 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C1412367 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching -OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:ALS2 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C1412367 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch ncbigene:57679 semapv:UnspecifiedMatching OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching +OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching OMIM:606355 DDX18 skos:exactMatch UMLS:C1413958 semapv:UnspecifiedMatching OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:DDX18 semapv:UnspecifiedMatching OMIM:606355 DDX18 skos:exactMatch ncbigene:8886 semapv:UnspecifiedMatching -OMIM:606356 TMEM123 skos:exactMatch ncbigene:114908 semapv:UnspecifiedMatching OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:TMEM123 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch ncbigene:114908 semapv:UnspecifiedMatching OMIM:606357 DDX21 skos:exactMatch UMLS:C1413961 semapv:UnspecifiedMatching OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:DDX21 semapv:UnspecifiedMatching OMIM:606357 DDX21 skos:exactMatch ncbigene:9188 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch UMLS:C1332034 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:AGR2 semapv:UnspecifiedMatching OMIM:606358 AGR2 skos:exactMatch ncbigene:10551 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:AGR2 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch UMLS:C1332034 semapv:UnspecifiedMatching OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:WNT3A semapv:UnspecifiedMatching OMIM:606359 WNT3A skos:exactMatch ncbigene:89780 semapv:UnspecifiedMatching OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:WNT8A semapv:UnspecifiedMatching OMIM:606360 WNT8A skos:exactMatch ncbigene:7478 semapv:UnspecifiedMatching -OMIM:606361 WNT5B skos:exactMatch ncbigene:81029 semapv:UnspecifiedMatching OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:WNT5B semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch ncbigene:81029 semapv:UnspecifiedMatching OMIM:606362 ACP4 skos:exactMatch ncbigene:93650 semapv:UnspecifiedMatching OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:ACP4 semapv:UnspecifiedMatching -OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:ABI3 semapv:UnspecifiedMatching OMIM:606363 ABI3 skos:exactMatch ncbigene:51225 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:ABI3 semapv:UnspecifiedMatching OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:GLS2 semapv:UnspecifiedMatching OMIM:606365 GLS2 skos:exactMatch ncbigene:27165 semapv:UnspecifiedMatching OMIM:606366 RHOU skos:exactMatch hgnc.symbol:RHOU semapv:UnspecifiedMatching OMIM:606366 RHOU skos:exactMatch ncbigene:58480 semapv:UnspecifiedMatching OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:APOA5 semapv:UnspecifiedMatching OMIM:606368 APOA5 skos:exactMatch ncbigene:116519 semapv:UnspecifiedMatching -OMIM:606370 TPK1 skos:exactMatch ncbigene:27010 semapv:UnspecifiedMatching OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:TPK1 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch ncbigene:27010 semapv:UnspecifiedMatching OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:ATF7 semapv:UnspecifiedMatching OMIM:606371 ATF7 skos:exactMatch ncbigene:11016 semapv:UnspecifiedMatching OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:CHRNA10 semapv:UnspecifiedMatching OMIM:606372 CHRNA10 skos:exactMatch ncbigene:57053 semapv:UnspecifiedMatching OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:FMN2 semapv:UnspecifiedMatching OMIM:606373 FMN2 skos:exactMatch ncbigene:56776 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch ncbigene:26229 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C4310897 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:B3GAT3 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C1412718 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching -OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:CHST10 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch ncbigene:26229 semapv:UnspecifiedMatching OMIM:606376 CHST10 skos:exactMatch ncbigene:9486 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:CHST10 semapv:UnspecifiedMatching OMIM:606377 DHDH skos:exactMatch hgnc.symbol:DHDH semapv:UnspecifiedMatching OMIM:606377 DHDH skos:exactMatch ncbigene:27294 semapv:UnspecifiedMatching OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:ST6GALNAC4 semapv:UnspecifiedMatching OMIM:606378 ST6GALNAC4 skos:exactMatch ncbigene:27090 semapv:UnspecifiedMatching -OMIM:606379 GPR87 skos:exactMatch ncbigene:53836 semapv:UnspecifiedMatching OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:GPR87 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch ncbigene:53836 semapv:UnspecifiedMatching OMIM:606380 P2RY13 skos:exactMatch ncbigene:53829 semapv:UnspecifiedMatching OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:P2RY13 semapv:UnspecifiedMatching OMIM:606381 SUCNR1 skos:exactMatch UMLS:C1539890 semapv:UnspecifiedMatching @@ -21475,8 +21479,8 @@ OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:BIN3 semapv:UnspecifiedMatching OMIM:606396 BIN3 skos:exactMatch ncbigene:55909 semapv:UnspecifiedMatching OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:CLRN1 semapv:UnspecifiedMatching OMIM:606397 CLRN1 skos:exactMatch ncbigene:7401 semapv:UnspecifiedMatching -OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:ATF5 semapv:UnspecifiedMatching OMIM:606398 ATF5 skos:exactMatch ncbigene:22809 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:ATF5 semapv:UnspecifiedMatching OMIM:606399 CACNA2D3 skos:exactMatch ncbigene:55799 semapv:UnspecifiedMatching OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:CACNA2D3 semapv:UnspecifiedMatching OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:CAPN7 semapv:UnspecifiedMatching @@ -21488,20 +21492,20 @@ OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:GKN1 semapv:UnspecifiedMatching OMIM:606402 GKN1 skos:exactMatch ncbigene:56287 semapv:UnspecifiedMatching OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:CACNG3 semapv:UnspecifiedMatching OMIM:606403 CACNG3 skos:exactMatch ncbigene:10368 semapv:UnspecifiedMatching -OMIM:606404 CACNG4 skos:exactMatch ncbigene:27092 semapv:UnspecifiedMatching OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:CACNG4 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch ncbigene:27092 semapv:UnspecifiedMatching OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:CACNG5 semapv:UnspecifiedMatching OMIM:606405 CACNG5 skos:exactMatch ncbigene:27091 semapv:UnspecifiedMatching OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:NPIPA1 semapv:UnspecifiedMatching OMIM:606406 NPIPA1 skos:exactMatch ncbigene:9284 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch ncbigene:83737 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch hgnc.symbol:ITCH semapv:UnspecifiedMatching OMIM:606409 ITCH skos:exactMatch UMLS:C1422257 semapv:UnspecifiedMatching OMIM:606409 ITCH skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch hgnc.symbol:ITCH semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch ncbigene:83737 semapv:UnspecifiedMatching OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:ANTXR1 semapv:UnspecifiedMatching OMIM:606410 ANTXR1 skos:exactMatch ncbigene:84168 semapv:UnspecifiedMatching OMIM:606411 SLC13A3 skos:exactMatch UMLS:C1422640 semapv:UnspecifiedMatching @@ -21514,42 +21518,42 @@ OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:INSL5 semapv:UnspecifiedMatching OMIM:606413 INSL5 skos:exactMatch ncbigene:10022 semapv:UnspecifiedMatching OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:INSL6 semapv:UnspecifiedMatching OMIM:606414 INSL6 skos:exactMatch ncbigene:11172 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:NLRP3 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch ncbigene:114548 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:NLRP3 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C1424250 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C0409818 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:WDR11 semapv:UnspecifiedMatching OMIM:606417 WDR11 skos:exactMatch ncbigene:55717 semapv:UnspecifiedMatching OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:DHCR24 semapv:UnspecifiedMatching OMIM:606418 DHCR24 skos:exactMatch ncbigene:1718 semapv:UnspecifiedMatching -OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:PRPF31 semapv:UnspecifiedMatching OMIM:606419 PRPF31 skos:exactMatch ncbigene:26121 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch ncbigene:9844 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:ELMO1 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:PRPF31 semapv:UnspecifiedMatching OMIM:606420 ELMO1 skos:exactMatch UMLS:C1424154 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:ELMO1 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch ncbigene:9844 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch UMLS:C1424843 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:ELMO2 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch ncbigene:63916 semapv:UnspecifiedMatching -OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:ELMO3 semapv:UnspecifiedMatching OMIM:606422 ELMO3 skos:exactMatch ncbigene:79767 semapv:UnspecifiedMatching -OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:DIRC1 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:ELMO3 semapv:UnspecifiedMatching OMIM:606423 DIRC1 skos:exactMatch ncbigene:116093 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch ncbigene:112398 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:EGLN2 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:DIRC1 semapv:UnspecifiedMatching OMIM:606424 EGLN2 skos:exactMatch UMLS:C1422819 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:EGLN2 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch ncbigene:112398 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1412925 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1836778 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:EGLN1 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch ncbigene:54583 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch UMLS:C1422820 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:EGLN3 semapv:UnspecifiedMatching OMIM:606426 EGLN3 skos:exactMatch ncbigene:112399 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:EGLN3 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch UMLS:C1422820 semapv:UnspecifiedMatching OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:ZNF320 semapv:UnspecifiedMatching OMIM:606427 ZNF320 skos:exactMatch ncbigene:162967 semapv:UnspecifiedMatching OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:UGT1A3 semapv:UnspecifiedMatching @@ -21566,8 +21570,8 @@ OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:UGT1A8 semapv:UnspecifiedMatching OMIM:606433 UGT1A8 skos:exactMatch ncbigene:54576 semapv:UnspecifiedMatching OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:UGT1A9 semapv:UnspecifiedMatching OMIM:606434 UGT1A9 skos:exactMatch ncbigene:54600 semapv:UnspecifiedMatching -OMIM:606435 UGT1A10 skos:exactMatch ncbigene:54575 semapv:UnspecifiedMatching OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:UGT1A10 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch ncbigene:54575 semapv:UnspecifiedMatching OMIM:606436 SYT12 skos:exactMatch ncbigene:91683 semapv:UnspecifiedMatching OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:SYT12 semapv:UnspecifiedMatching OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:ATL1 semapv:UnspecifiedMatching @@ -21578,8 +21582,8 @@ OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:HTRA2 semapv:UnspecifiedMatching OMIM:606441 HTRA2 skos:exactMatch ncbigene:27429 semapv:UnspecifiedMatching OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:ABI2 semapv:UnspecifiedMatching OMIM:606442 ABI2 skos:exactMatch ncbigene:10152 semapv:UnspecifiedMatching -OMIM:606443 CREB3 skos:exactMatch ncbigene:10488 semapv:UnspecifiedMatching OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:CREB3 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch ncbigene:10488 semapv:UnspecifiedMatching OMIM:606444 CREBZF skos:exactMatch ncbigene:58487 semapv:UnspecifiedMatching OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:CREBZF semapv:UnspecifiedMatching OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:SLAMF6 semapv:UnspecifiedMatching @@ -21600,54 +21604,54 @@ OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:EIF2B2 semapv:UnspecifiedMatching OMIM:606454 EIF2B2 skos:exactMatch ncbigene:8892 semapv:UnspecifiedMatching OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:PPP1R13B semapv:UnspecifiedMatching OMIM:606455 PPP1R13B skos:exactMatch ncbigene:23368 semapv:UnspecifiedMatching -OMIM:606456 NPM3 skos:exactMatch ncbigene:10360 semapv:UnspecifiedMatching OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:NPM3 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch ncbigene:10360 semapv:UnspecifiedMatching OMIM:606457 IBTK skos:exactMatch hgnc.symbol:IBTK semapv:UnspecifiedMatching OMIM:606457 IBTK skos:exactMatch ncbigene:25998 semapv:UnspecifiedMatching -OMIM:606458 AXUD1 skos:exactMatch hgnc.symbol:CSRNP1 semapv:UnspecifiedMatching OMIM:606458 AXUD1 skos:exactMatch ncbigene:64651 semapv:UnspecifiedMatching +OMIM:606458 AXUD1 skos:exactMatch hgnc.symbol:CSRNP1 semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch hgnc.symbol:OGFR semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch ncbigene:11054 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch UMLS:C1869126 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch ncbigene:96764 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch ncbigene:5885 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:RAD21 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C5394577 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C1419235 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch ncbigene:5885 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C2676021 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C1419235 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch ncbigene:2629 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch hgnc.symbol:GBA1 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C2676021 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1847917 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C1414998 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch ncbigene:57817 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C4016968 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch hgnc.symbol:HAMP semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1847917 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C1423607 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching -OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:KLF15 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C4016968 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch hgnc.symbol:HAMP semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch ncbigene:57817 semapv:UnspecifiedMatching OMIM:606465 KLF15 skos:exactMatch ncbigene:28999 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:KLF15 semapv:UnspecifiedMatching OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:PRAM1 semapv:UnspecifiedMatching OMIM:606466 PRAM1 skos:exactMatch ncbigene:84106 semapv:UnspecifiedMatching OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:ALDH8A1 semapv:UnspecifiedMatching OMIM:606467 ALDH8A1 skos:exactMatch ncbigene:64577 semapv:UnspecifiedMatching OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:GAR1 semapv:UnspecifiedMatching OMIM:606468 GAR1 skos:exactMatch ncbigene:54433 semapv:UnspecifiedMatching -OMIM:606469 RNF29 skos:exactMatch ncbigene:84675 semapv:UnspecifiedMatching OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:TRIM55 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch ncbigene:84675 semapv:UnspecifiedMatching OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:NHP2 semapv:UnspecifiedMatching OMIM:606470 NHP2 skos:exactMatch ncbigene:55651 semapv:UnspecifiedMatching -OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:NOP10 semapv:UnspecifiedMatching OMIM:606471 NOP10 skos:exactMatch ncbigene:55505 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:NOP10 semapv:UnspecifiedMatching OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:SS18L1 semapv:UnspecifiedMatching OMIM:606472 SS18L1 skos:exactMatch ncbigene:26039 semapv:UnspecifiedMatching OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:SS18L2 semapv:UnspecifiedMatching @@ -21656,225 +21660,225 @@ OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:TRIM54 semapv:UnspecifiedMatching OMIM:606474 RNF30 skos:exactMatch ncbigene:57159 semapv:UnspecifiedMatching OMIM:606475 CD320 skos:exactMatch hgnc.symbol:CD320 semapv:UnspecifiedMatching OMIM:606475 CD320 skos:exactMatch ncbigene:51293 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch ncbigene:80271 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:ITPKC semapv:UnspecifiedMatching OMIM:606476 ITPKC skos:exactMatch UMLS:C1423036 semapv:UnspecifiedMatching OMIM:606476 ITPKC skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:ITPKC semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch ncbigene:80271 semapv:UnspecifiedMatching OMIM:606477 SRR skos:exactMatch hgnc.symbol:SRR semapv:UnspecifiedMatching OMIM:606477 SRR skos:exactMatch ncbigene:63826 semapv:UnspecifiedMatching -OMIM:606478 POT1 skos:exactMatch ncbigene:25913 semapv:UnspecifiedMatching OMIM:606478 POT1 skos:exactMatch hgnc.symbol:POT1 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch ncbigene:25913 semapv:UnspecifiedMatching OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:NLGN2 semapv:UnspecifiedMatching OMIM:606479 NLGN2 skos:exactMatch ncbigene:57555 semapv:UnspecifiedMatching -OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:ZMPSTE24 semapv:UnspecifiedMatching OMIM:606480 ZMPSTE24 skos:exactMatch ncbigene:10269 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:ZMPSTE24 semapv:UnspecifiedMatching OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:INPP5J semapv:UnspecifiedMatching OMIM:606481 PIB5PA skos:exactMatch ncbigene:27124 semapv:UnspecifiedMatching OMIM:606484 MTPN skos:exactMatch hgnc.symbol:MTPN semapv:UnspecifiedMatching OMIM:606484 MTPN skos:exactMatch ncbigene:136319 semapv:UnspecifiedMatching -OMIM:606485 POLR2M skos:exactMatch ncbigene:81488 semapv:UnspecifiedMatching OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:POLR2M semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch UMLS:C1538454 semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch ncbigene:81488 semapv:UnspecifiedMatching OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:CHMP1B semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch UMLS:C1538454 semapv:UnspecifiedMatching OMIM:606486 CHMP1B skos:exactMatch ncbigene:57132 semapv:UnspecifiedMatching -OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:PLAAT1 semapv:UnspecifiedMatching OMIM:606487 PLAAT1 skos:exactMatch ncbigene:57110 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:PLAAT1 semapv:UnspecifiedMatching OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:EXOSC7 semapv:UnspecifiedMatching OMIM:606488 EXOSC7 skos:exactMatch ncbigene:23016 semapv:UnspecifiedMatching -OMIM:606489 EXOSC3 skos:exactMatch ncbigene:51010 semapv:UnspecifiedMatching OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:EXOSC3 semapv:UnspecifiedMatching -OMIM:606490 EXOSC6 skos:exactMatch ncbigene:118460 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch ncbigene:51010 semapv:UnspecifiedMatching OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:EXOSC6 semapv:UnspecifiedMatching -OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:EXOSC4 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch ncbigene:118460 semapv:UnspecifiedMatching OMIM:606491 EXOSC4 skos:exactMatch ncbigene:54512 semapv:UnspecifiedMatching -OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:EXOSC5 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:EXOSC4 semapv:UnspecifiedMatching OMIM:606492 EXOSC5 skos:exactMatch ncbigene:56915 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:EXOSC5 semapv:UnspecifiedMatching OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:EXOSC1 semapv:UnspecifiedMatching OMIM:606493 EXOSC1 skos:exactMatch ncbigene:51013 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch ncbigene:6487 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:ST3GAL3 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1539861 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:ST3GAL3 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch ncbigene:6487 semapv:UnspecifiedMatching OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:MARK4 semapv:UnspecifiedMatching OMIM:606495 MARK4 skos:exactMatch ncbigene:57787 semapv:UnspecifiedMatching -OMIM:606496 IL17F skos:exactMatch hgnc.symbol:IL17F semapv:UnspecifiedMatching OMIM:606496 IL17F skos:exactMatch ncbigene:112744 semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch hgnc.symbol:IL17F semapv:UnspecifiedMatching OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:UGT2B28 semapv:UnspecifiedMatching OMIM:606497 UGT2B28 skos:exactMatch ncbigene:54490 semapv:UnspecifiedMatching OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:MS4A3 semapv:UnspecifiedMatching OMIM:606498 MS4A3 skos:exactMatch ncbigene:932 semapv:UnspecifiedMatching -OMIM:606499 MS4A5 skos:exactMatch ncbigene:64232 semapv:UnspecifiedMatching OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:MS4A5 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch ncbigene:64232 semapv:UnspecifiedMatching OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:SCGB3A1 semapv:UnspecifiedMatching OMIM:606500 SCGB3A1 skos:exactMatch ncbigene:92304 semapv:UnspecifiedMatching -OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:MTMR12 semapv:UnspecifiedMatching OMIM:606501 MTMR12 skos:exactMatch ncbigene:54545 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:MTMR12 semapv:UnspecifiedMatching OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:MS4A7 semapv:UnspecifiedMatching OMIM:606502 MS4A7 skos:exactMatch ncbigene:58475 semapv:UnspecifiedMatching OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:SUV39H2 semapv:UnspecifiedMatching OMIM:606503 SUV39H2 skos:exactMatch ncbigene:79723 semapv:UnspecifiedMatching -OMIM:606504 CASC3 skos:exactMatch ncbigene:22794 semapv:UnspecifiedMatching OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:CASC3 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch ncbigene:22794 semapv:UnspecifiedMatching OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:PINX1 semapv:UnspecifiedMatching OMIM:606505 PINX1 skos:exactMatch ncbigene:54984 semapv:UnspecifiedMatching -OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:FCRL1 semapv:UnspecifiedMatching OMIM:606508 FCRL1 skos:exactMatch ncbigene:115350 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:FCRL1 semapv:UnspecifiedMatching OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:FCRL2 semapv:UnspecifiedMatching OMIM:606509 FCRL2 skos:exactMatch ncbigene:79368 semapv:UnspecifiedMatching -OMIM:606510 FCRL3 skos:exactMatch ncbigene:115352 semapv:UnspecifiedMatching OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:FCRL3 semapv:UnspecifiedMatching -OMIM:606511 MARK1 skos:exactMatch ncbigene:4139 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch ncbigene:115352 semapv:UnspecifiedMatching OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:MARK1 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch ncbigene:4139 semapv:UnspecifiedMatching OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:PACSIN1 semapv:UnspecifiedMatching OMIM:606512 PACSIN1 skos:exactMatch ncbigene:29993 semapv:UnspecifiedMatching -OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:PACSIN3 semapv:UnspecifiedMatching OMIM:606513 PACSIN3 skos:exactMatch ncbigene:29763 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:PACSIN3 semapv:UnspecifiedMatching OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:CYTH4 semapv:UnspecifiedMatching OMIM:606514 CYTH4 skos:exactMatch ncbigene:27128 semapv:UnspecifiedMatching OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:RN7SK semapv:UnspecifiedMatching OMIM:606515 RN7SK skos:exactMatch ncbigene:125050 semapv:UnspecifiedMatching -OMIM:606516 MBNL1 skos:exactMatch ncbigene:4154 semapv:UnspecifiedMatching OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:MBNL1 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch ncbigene:4154 semapv:UnspecifiedMatching OMIM:606517 AHRR skos:exactMatch hgnc.symbol:AHRR semapv:UnspecifiedMatching OMIM:606517 AHRR skos:exactMatch ncbigene:57491 semapv:UnspecifiedMatching -OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:HAVCR1 semapv:UnspecifiedMatching OMIM:606518 HAVCR1 skos:exactMatch ncbigene:26762 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:HAVCR1 semapv:UnspecifiedMatching OMIM:606519 phace association skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching OMIM:606519 phace association skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:MPIG6B semapv:UnspecifiedMatching OMIM:606520 MPIG6B skos:exactMatch ncbigene:80739 semapv:UnspecifiedMatching OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:SLC25A19 semapv:UnspecifiedMatching OMIM:606521 SLC25A19 skos:exactMatch ncbigene:60386 semapv:UnspecifiedMatching -OMIM:606522 GDF3 skos:exactMatch ncbigene:9573 semapv:UnspecifiedMatching OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:GDF3 semapv:UnspecifiedMatching -OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:SRGAP1 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch ncbigene:9573 semapv:UnspecifiedMatching OMIM:606523 SRGAP1 skos:exactMatch ncbigene:57522 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:SRGAP1 semapv:UnspecifiedMatching OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:SRGAP2 semapv:UnspecifiedMatching OMIM:606524 SRGAP2 skos:exactMatch ncbigene:23380 semapv:UnspecifiedMatching OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:SRGAP3 semapv:UnspecifiedMatching OMIM:606525 SRGAP3 skos:exactMatch ncbigene:9901 semapv:UnspecifiedMatching OMIM:606526 MLPH skos:exactMatch hgnc.symbol:MLPH semapv:UnspecifiedMatching OMIM:606526 MLPH skos:exactMatch ncbigene:79083 semapv:UnspecifiedMatching -OMIM:606530 CYP27A1 skos:exactMatch ncbigene:1593 semapv:UnspecifiedMatching OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:CYP27A1 semapv:UnspecifiedMatching -OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:SCGB3A2 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch ncbigene:1593 semapv:UnspecifiedMatching OMIM:606531 SCGB3A2 skos:exactMatch ncbigene:117156 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:SCGB3A2 semapv:UnspecifiedMatching OMIM:606532 HUNK skos:exactMatch hgnc.symbol:HUNK semapv:UnspecifiedMatching OMIM:606532 HUNK skos:exactMatch ncbigene:30811 semapv:UnspecifiedMatching OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:CLIC3 semapv:UnspecifiedMatching OMIM:606533 CLIC3 skos:exactMatch ncbigene:9022 semapv:UnspecifiedMatching OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:CYP3A43 semapv:UnspecifiedMatching OMIM:606534 CYP3A43 skos:exactMatch ncbigene:64816 semapv:UnspecifiedMatching -OMIM:606535 MYCBP skos:exactMatch ncbigene:26292 semapv:UnspecifiedMatching OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:MYCBP semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch ncbigene:26292 semapv:UnspecifiedMatching OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:CLIC4 semapv:UnspecifiedMatching OMIM:606536 CLIC4 skos:exactMatch ncbigene:25932 semapv:UnspecifiedMatching -OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:MYO1B semapv:UnspecifiedMatching OMIM:606537 MYO1B skos:exactMatch ncbigene:4430 semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:MYO1B semapv:UnspecifiedMatching OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:MYO1C semapv:UnspecifiedMatching OMIM:606538 MYO1C skos:exactMatch ncbigene:4641 semapv:UnspecifiedMatching OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:MYO1D semapv:UnspecifiedMatching OMIM:606539 MYO1D skos:exactMatch ncbigene:4642 semapv:UnspecifiedMatching -OMIM:606540 MYO5B skos:exactMatch ncbigene:4645 semapv:UnspecifiedMatching OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:MYO5B semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch ncbigene:4645 semapv:UnspecifiedMatching OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:MYO7B semapv:UnspecifiedMatching OMIM:606541 MYO7B skos:exactMatch ncbigene:4648 semapv:UnspecifiedMatching -OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:HDAC7 semapv:UnspecifiedMatching OMIM:606542 HDAC7A skos:exactMatch ncbigene:51564 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:HDAC7 semapv:UnspecifiedMatching OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:HDAC9 semapv:UnspecifiedMatching OMIM:606543 HDAC9 skos:exactMatch ncbigene:9734 semapv:UnspecifiedMatching OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:GFM2 semapv:UnspecifiedMatching OMIM:606544 GFM2 skos:exactMatch ncbigene:84340 semapv:UnspecifiedMatching -OMIM:606546 HYMAI skos:exactMatch ncbigene:57061 semapv:UnspecifiedMatching OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:HYMAI semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch ncbigene:57061 semapv:UnspecifiedMatching OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:MS4A4A semapv:UnspecifiedMatching OMIM:606547 MS4A4A skos:exactMatch ncbigene:51338 semapv:UnspecifiedMatching -OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:MS4A6A semapv:UnspecifiedMatching OMIM:606548 MS4A6A skos:exactMatch ncbigene:64231 semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:MS4A6A semapv:UnspecifiedMatching OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:MS4A8 semapv:UnspecifiedMatching OMIM:606549 MS4A8B skos:exactMatch ncbigene:83661 semapv:UnspecifiedMatching -OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch ncbigene:54860 semapv:UnspecifiedMatching OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:MS4A12 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch ncbigene:54860 semapv:UnspecifiedMatching OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:LZTS1 semapv:UnspecifiedMatching OMIM:606551 LZTS1 skos:exactMatch ncbigene:11178 semapv:UnspecifiedMatching OMIM:606553 SLC9A3R2 skos:exactMatch hgnc.symbol:NHERF2 semapv:UnspecifiedMatching OMIM:606553 SLC9A3R2 skos:exactMatch ncbigene:9351 semapv:UnspecifiedMatching -OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching OMIM:606555 TRIM9 skos:exactMatch ncbigene:114088 semapv:UnspecifiedMatching -OMIM:606556 TRIM14 skos:exactMatch ncbigene:9830 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:TRIM14 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch ncbigene:53335 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:BCL11A semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch ncbigene:9830 semapv:UnspecifiedMatching OMIM:606557 BCL11A skos:exactMatch UMLS:C1421886 semapv:UnspecifiedMatching OMIM:606557 BCL11A skos:exactMatch UMLS:C4310833 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:BCL11A semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch ncbigene:53335 semapv:UnspecifiedMatching OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:BCL11B semapv:UnspecifiedMatching OMIM:606558 BCL11B skos:exactMatch ncbigene:64919 semapv:UnspecifiedMatching -OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:TRIM22 semapv:UnspecifiedMatching OMIM:606559 TRIM22 skos:exactMatch ncbigene:10346 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:TRIM22 semapv:UnspecifiedMatching OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:SPAG11B semapv:UnspecifiedMatching OMIM:606560 SPAG11B skos:exactMatch ncbigene:10407 semapv:UnspecifiedMatching -OMIM:606561 SLC36A1 skos:exactMatch ncbigene:206358 semapv:UnspecifiedMatching OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:SLC36A1 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch ncbigene:206358 semapv:UnspecifiedMatching OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:TM6SF1 semapv:UnspecifiedMatching OMIM:606562 TM6SF1 skos:exactMatch ncbigene:53346 semapv:UnspecifiedMatching OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:TM6SF2 semapv:UnspecifiedMatching OMIM:606563 TM6SF2 skos:exactMatch ncbigene:53345 semapv:UnspecifiedMatching -OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:PMEPA1 semapv:UnspecifiedMatching OMIM:606564 PMEPA1 skos:exactMatch ncbigene:56937 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:PMEPA1 semapv:UnspecifiedMatching OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:TMPRSS4 semapv:UnspecifiedMatching OMIM:606565 TMPRSS4 skos:exactMatch ncbigene:56649 semapv:UnspecifiedMatching OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:MYLK2 semapv:UnspecifiedMatching OMIM:606566 MYLK2 skos:exactMatch ncbigene:85366 semapv:UnspecifiedMatching -OMIM:606567 TM4SF4 skos:exactMatch ncbigene:7104 semapv:UnspecifiedMatching OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:TM4SF4 semapv:UnspecifiedMatching -OMIM:606568 LZTFL1 skos:exactMatch ncbigene:54585 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch ncbigene:7104 semapv:UnspecifiedMatching OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:LZTFL1 semapv:UnspecifiedMatching -OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:SACM1L semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch ncbigene:54585 semapv:UnspecifiedMatching OMIM:606569 SACM1L skos:exactMatch ncbigene:22908 semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:SACM1L semapv:UnspecifiedMatching OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:SFRP4 semapv:UnspecifiedMatching OMIM:606570 SFRP4 skos:exactMatch ncbigene:6424 semapv:UnspecifiedMatching OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:LDLRAD4 semapv:UnspecifiedMatching OMIM:606571 LDLRAD4 skos:exactMatch ncbigene:753 semapv:UnspecifiedMatching OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:NOX5 semapv:UnspecifiedMatching OMIM:606572 NOX5 skos:exactMatch ncbigene:79400 semapv:UnspecifiedMatching -OMIM:606573 FRK skos:exactMatch ncbigene:2444 semapv:UnspecifiedMatching OMIM:606573 FRK skos:exactMatch hgnc.symbol:FRK semapv:UnspecifiedMatching -OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch ncbigene:2444 semapv:UnspecifiedMatching OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching +OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:MPP4 semapv:UnspecifiedMatching OMIM:606575 MPP4 skos:exactMatch ncbigene:58538 semapv:UnspecifiedMatching OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:TAF3 semapv:UnspecifiedMatching OMIM:606576 TAF3 skos:exactMatch ncbigene:83860 semapv:UnspecifiedMatching OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:SLA2 semapv:UnspecifiedMatching OMIM:606577 SLA2 skos:exactMatch ncbigene:84174 semapv:UnspecifiedMatching -OMIM:606578 AQP10 skos:exactMatch ncbigene:89872 semapv:UnspecifiedMatching OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:AQP10 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C1417955 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch ncbigene:89872 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:OPA3 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch ncbigene:80207 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C1417955 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:DLL1 semapv:UnspecifiedMatching OMIM:606582 DLL1 skos:exactMatch ncbigene:28514 semapv:UnspecifiedMatching -OMIM:606583 PRDX5 skos:exactMatch ncbigene:25824 semapv:UnspecifiedMatching OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:PRDX5 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C1422626 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394578 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394579 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch ncbigene:25824 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch ncbigene:25930 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394580 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:PTPN23 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch ncbigene:25930 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394578 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C1422626 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394579 semapv:UnspecifiedMatching OMIM:606585 ENAM skos:exactMatch hgnc.symbol:ENAM semapv:UnspecifiedMatching OMIM:606585 ENAM skos:exactMatch ncbigene:10117 semapv:UnspecifiedMatching OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:RAI14 semapv:UnspecifiedMatching OMIM:606586 RAI14 skos:exactMatch ncbigene:26064 semapv:UnspecifiedMatching -OMIM:606587 PTPN18 skos:exactMatch ncbigene:26469 semapv:UnspecifiedMatching OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:PTPN18 semapv:UnspecifiedMatching -OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:DNMT3L semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch ncbigene:26469 semapv:UnspecifiedMatching OMIM:606588 DNMT3L skos:exactMatch ncbigene:29947 semapv:UnspecifiedMatching -OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:SNX13 semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:DNMT3L semapv:UnspecifiedMatching OMIM:606589 SNX13 skos:exactMatch ncbigene:23161 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:SNX13 semapv:UnspecifiedMatching OMIM:606590 NPLOC4 skos:exactMatch UMLS:C1826464 semapv:UnspecifiedMatching OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:NPLOC4 semapv:UnspecifiedMatching OMIM:606590 NPLOC4 skos:exactMatch ncbigene:55666 semapv:UnspecifiedMatching @@ -21885,26 +21889,26 @@ OMIM:606592 VNN3 skos:exactMatch ncbigene:55350 semapv:UnspecifiedMatching OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:SETD7 semapv:UnspecifiedMatching OMIM:606594 SETD7 skos:exactMatch ncbigene:80854 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch ncbigene:79147 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C4016971 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C4016970 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch hgnc.symbol:FKRP semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C4016971 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C1425226 semapv:UnspecifiedMatching -OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:PAX3 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C4016970 semapv:UnspecifiedMatching OMIM:606597 PAX3 skos:exactMatch ncbigene:5077 semapv:UnspecifiedMatching -OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:GDAP1 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:PAX3 semapv:UnspecifiedMatching OMIM:606598 GDAP1 skos:exactMatch ncbigene:54332 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:GDAP1 semapv:UnspecifiedMatching OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:TXNIP semapv:UnspecifiedMatching OMIM:606599 TXNIP skos:exactMatch ncbigene:10628 semapv:UnspecifiedMatching -OMIM:606600 RASGRF1 skos:exactMatch ncbigene:5923 semapv:UnspecifiedMatching OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:RASGRF1 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch ncbigene:5923 semapv:UnspecifiedMatching OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:ERVE-1 semapv:UnspecifiedMatching OMIM:606601 ERVE1 skos:exactMatch ncbigene:85314 semapv:UnspecifiedMatching OMIM:606602 BAALC skos:exactMatch hgnc.symbol:BAALC semapv:UnspecifiedMatching OMIM:606602 BAALC skos:exactMatch ncbigene:79870 semapv:UnspecifiedMatching -OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:EDARADD semapv:UnspecifiedMatching OMIM:606603 EDARADD skos:exactMatch ncbigene:128178 semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:EDARADD semapv:UnspecifiedMatching OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:FBXO32 semapv:UnspecifiedMatching OMIM:606604 FBXO32 skos:exactMatch ncbigene:114907 semapv:UnspecifiedMatching OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:ATRIP semapv:UnspecifiedMatching @@ -21913,9 +21917,9 @@ OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:PSMA7 semapv:UnspecifiedMatching OMIM:606607 PSMA7 skos:exactMatch ncbigene:5688 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch ncbigene:10413 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:YAP1 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch UMLS:C1424135 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch UMLS:C1424135 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:TREX1 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C3150315 semapv:UnspecifiedMatching @@ -21928,224 +21932,224 @@ OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:NSFL1C semapv:UnspecifiedMatching OMIM:606610 NSFL1C skos:exactMatch ncbigene:55968 semapv:UnspecifiedMatching OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:DEFB103B semapv:UnspecifiedMatching OMIM:606611 DEFB103A skos:exactMatch ncbigene:55894 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching -OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:RASGRF2 semapv:UnspecifiedMatching -OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching OMIM:606615 HIF1AN skos:exactMatch ncbigene:55662 semapv:UnspecifiedMatching -OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching OMIM:606618 DUSP14 skos:exactMatch ncbigene:11072 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:GBA3 semapv:UnspecifiedMatching OMIM:606619 GBA3 skos:exactMatch ncbigene:57733 semapv:UnspecifiedMatching OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:SLAMF8 semapv:UnspecifiedMatching OMIM:606620 SLAMF8 skos:exactMatch ncbigene:56833 semapv:UnspecifiedMatching -OMIM:606621 IFT57 skos:exactMatch ncbigene:55081 semapv:UnspecifiedMatching OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:IFT57 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch ncbigene:55081 semapv:UnspecifiedMatching OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:SMARCAL1 semapv:UnspecifiedMatching OMIM:606622 SMARCAL1 skos:exactMatch ncbigene:50485 semapv:UnspecifiedMatching -OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:HSD17B6 semapv:UnspecifiedMatching OMIM:606623 HSD17B6 skos:exactMatch ncbigene:8630 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:HSD17B6 semapv:UnspecifiedMatching OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:NEUROG2 semapv:UnspecifiedMatching OMIM:606624 NEUROG2 skos:exactMatch ncbigene:63973 semapv:UnspecifiedMatching -OMIM:606625 SLAMF7 skos:exactMatch ncbigene:57823 semapv:UnspecifiedMatching OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:SLAMF7 semapv:UnspecifiedMatching -OMIM:606626 DAAM1 skos:exactMatch ncbigene:23002 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch ncbigene:57823 semapv:UnspecifiedMatching OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:DAAM1 semapv:UnspecifiedMatching -OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:DAAM2 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch ncbigene:23002 semapv:UnspecifiedMatching OMIM:606627 DAAM2 skos:exactMatch ncbigene:23500 semapv:UnspecifiedMatching -OMIM:606628 GNMT skos:exactMatch hgnc.symbol:GNMT semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:DAAM2 semapv:UnspecifiedMatching OMIM:606628 GNMT skos:exactMatch ncbigene:27232 semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch hgnc.symbol:GNMT semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch UMLS:C1424873 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:RIMS1 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch ncbigene:22999 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch ncbigene:9699 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:RIMS2 semapv:UnspecifiedMatching OMIM:606630 RIMS2 skos:exactMatch UMLS:C1424874 semapv:UnspecifiedMatching OMIM:606630 RIMS2 skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching -OMIM:606633 SP7 skos:exactMatch hgnc.symbol:SP7 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:RIMS2 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch ncbigene:9699 semapv:UnspecifiedMatching OMIM:606633 SP7 skos:exactMatch ncbigene:121340 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch hgnc.symbol:SP7 semapv:UnspecifiedMatching OMIM:606634 DCD skos:exactMatch hgnc.symbol:DCD semapv:UnspecifiedMatching OMIM:606634 DCD skos:exactMatch ncbigene:117159 semapv:UnspecifiedMatching OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:TMPRSS15 semapv:UnspecifiedMatching OMIM:606635 TMPRSS15 skos:exactMatch ncbigene:5651 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:NLRP1 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch ncbigene:22861 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch ncbigene:22861 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C1826435 semapv:UnspecifiedMatching OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:PYY2 semapv:UnspecifiedMatching OMIM:606637 PYY2 skos:exactMatch ncbigene:23615 semapv:UnspecifiedMatching OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:PPY2P semapv:UnspecifiedMatching OMIM:606638 PPY2 skos:exactMatch ncbigene:23614 semapv:UnspecifiedMatching -OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:GFM1 semapv:UnspecifiedMatching -OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching -OMIM:606648 IL22RA2 skos:exactMatch ncbigene:116379 semapv:UnspecifiedMatching OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:IL22RA2 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch ncbigene:116379 semapv:UnspecifiedMatching OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:HIVEP3 semapv:UnspecifiedMatching OMIM:606649 HIVEP3 skos:exactMatch ncbigene:59269 semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch ncbigene:116443 semapv:UnspecifiedMatching OMIM:606650 GRIN3A skos:exactMatch UMLS:C1424528 semapv:UnspecifiedMatching OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:GRIN3A semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch ncbigene:116443 semapv:UnspecifiedMatching OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:GRIN3B semapv:UnspecifiedMatching OMIM:606651 GRIN3B skos:exactMatch ncbigene:116444 semapv:UnspecifiedMatching -OMIM:606652 HAVCR2 skos:exactMatch ncbigene:84868 semapv:UnspecifiedMatching OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:HAVCR2 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch ncbigene:84868 semapv:UnspecifiedMatching OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:LGR6 semapv:UnspecifiedMatching OMIM:606653 LGR6 skos:exactMatch ncbigene:59352 semapv:UnspecifiedMatching -OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:RXFP1 semapv:UnspecifiedMatching OMIM:606654 RXFP1 skos:exactMatch ncbigene:59350 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:RXFP1 semapv:UnspecifiedMatching OMIM:606655 RXFP2 skos:exactMatch ncbigene:122042 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch UMLS:C1424898 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:RXFP2 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch UMLS:C1424898 semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch UMLS:C1420741 semapv:UnspecifiedMatching OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:TIMM8B semapv:UnspecifiedMatching OMIM:606659 TIMM8B skos:exactMatch ncbigene:26521 semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch UMLS:C1420741 semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:LOXL2 semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch ncbigene:4017 semapv:UnspecifiedMatching -OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:OPN4 semapv:UnspecifiedMatching OMIM:606665 OPN4 skos:exactMatch ncbigene:94233 semapv:UnspecifiedMatching -OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:LGR4 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:OPN4 semapv:UnspecifiedMatching OMIM:606666 LGR4 skos:exactMatch ncbigene:55366 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:LGR4 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch UMLS:C1537570 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch ncbigene:8549 semapv:UnspecifiedMatching -OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:FXYD5 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:PPP1R11 semapv:UnspecifiedMatching OMIM:606670 PPP1R11 skos:exactMatch ncbigene:6992 semapv:UnspecifiedMatching OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:NCKIPSD semapv:UnspecifiedMatching OMIM:606671 NCKIPSD skos:exactMatch ncbigene:51517 semapv:UnspecifiedMatching -OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:GP1BA semapv:UnspecifiedMatching OMIM:606672 GP1BA skos:exactMatch ncbigene:2811 semapv:UnspecifiedMatching -OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:GP1BA semapv:UnspecifiedMatching OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:UPB1 semapv:UnspecifiedMatching -OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:TRPV2 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:CLEC4C semapv:UnspecifiedMatching OMIM:606677 CLEC4C skos:exactMatch ncbigene:170482 semapv:UnspecifiedMatching OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:TRPM8 semapv:UnspecifiedMatching OMIM:606678 TRPM8 skos:exactMatch ncbigene:79054 semapv:UnspecifiedMatching -OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:TRPV5 semapv:UnspecifiedMatching OMIM:606679 TRPV5 skos:exactMatch ncbigene:56302 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:TRPV5 semapv:UnspecifiedMatching OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:TRPV6 semapv:UnspecifiedMatching OMIM:606680 TRPV6 skos:exactMatch ncbigene:55503 semapv:UnspecifiedMatching -OMIM:606681 NSD1 skos:exactMatch ncbigene:64324 semapv:UnspecifiedMatching OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:NSD1 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch ncbigene:64324 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch UMLS:C1423767 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:HPS4 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch ncbigene:89781 semapv:UnspecifiedMatching -OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:FXYD6 semapv:UnspecifiedMatching OMIM:606683 FXYD6 skos:exactMatch ncbigene:53826 semapv:UnspecifiedMatching -OMIM:606684 FXYD7 skos:exactMatch ncbigene:53822 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:FXYD6 semapv:UnspecifiedMatching OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:FXYD7 semapv:UnspecifiedMatching -OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch ncbigene:53822 semapv:UnspecifiedMatching OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching +OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:EIF2B1 semapv:UnspecifiedMatching OMIM:606686 EIF2B1 skos:exactMatch ncbigene:1967 semapv:UnspecifiedMatching -OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatching OMIM:606687 EIF2B4 skos:exactMatch ncbigene:8890 semapv:UnspecifiedMatching -OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatching OMIM:606691 CEACAM19 skos:exactMatch ncbigene:56971 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:TRAF7 semapv:UnspecifiedMatching OMIM:606692 TRAF7 skos:exactMatch ncbigene:84231 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching OMIM:606693 kufor-rakeb syndrome skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:NUP155 semapv:UnspecifiedMatching OMIM:606694 NUP155 skos:exactMatch ncbigene:9631 semapv:UnspecifiedMatching OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:OPN3 semapv:UnspecifiedMatching OMIM:606695 OPN3 skos:exactMatch ncbigene:23596 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:KATNA1 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch UMLS:C1416541 semapv:UnspecifiedMatching OMIM:606696 KATNA1 skos:exactMatch ncbigene:11104 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch UMLS:C1416541 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:KATNA1 semapv:UnspecifiedMatching OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:ZNF443 semapv:UnspecifiedMatching OMIM:606697 zinc finger protein zk1 skos:exactMatch ncbigene:10224 semapv:UnspecifiedMatching -OMIM:606698 sry-box 30 skos:exactMatch ncbigene:11063 semapv:UnspecifiedMatching OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:SOX30 semapv:UnspecifiedMatching -OMIM:606699 HELZ skos:exactMatch hgnc.symbol:HELZ semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch ncbigene:11063 semapv:UnspecifiedMatching OMIM:606699 HELZ skos:exactMatch ncbigene:9931 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch UMLS:C1424166 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch hgnc.symbol:MIDN semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch hgnc.symbol:HELZ semapv:UnspecifiedMatching OMIM:606700 MIDN skos:exactMatch ncbigene:90007 semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch hgnc.symbol:MIDN semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch UMLS:C1424166 semapv:UnspecifiedMatching OMIM:606701 DRGX skos:exactMatch hgnc.symbol:DRGX semapv:UnspecifiedMatching OMIM:606701 DRGX skos:exactMatch ncbigene:644168 semapv:UnspecifiedMatching -OMIM:606702 PKHD1 skos:exactMatch ncbigene:5314 semapv:UnspecifiedMatching OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:PKHD1 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch ncbigene:5314 semapv:UnspecifiedMatching OMIM:606704 GPR75 skos:exactMatch UMLS:C1415257 semapv:UnspecifiedMatching OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:GPR75 semapv:UnspecifiedMatching OMIM:606704 GPR75 skos:exactMatch ncbigene:10936 semapv:UnspecifiedMatching -OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:TMC1 semapv:UnspecifiedMatching OMIM:606706 TMC1 skos:exactMatch ncbigene:117531 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:TMC1 semapv:UnspecifiedMatching OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:TMC2 semapv:UnspecifiedMatching OMIM:606707 TMC2 skos:exactMatch ncbigene:117532 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:PRSS12 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch ncbigene:8492 semapv:UnspecifiedMatching -OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:LHFPL6 semapv:UnspecifiedMatching -OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching OMIM:606714 PNRC1 skos:exactMatch ncbigene:10957 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch UMLS:C1427464 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:ASIC4 semapv:UnspecifiedMatching OMIM:606715 ASIC4 skos:exactMatch ncbigene:55515 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch UMLS:C1427464 semapv:UnspecifiedMatching OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:NAT8 semapv:UnspecifiedMatching OMIM:606716 NAT8 skos:exactMatch ncbigene:9027 semapv:UnspecifiedMatching -OMIM:606717 XAF1 skos:exactMatch ncbigene:54739 semapv:UnspecifiedMatching OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:XAF1 semapv:UnspecifiedMatching -OMIM:606718 SLC26A2 skos:exactMatch ncbigene:1836 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch ncbigene:54739 semapv:UnspecifiedMatching OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:SLC26A2 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch ncbigene:1836 semapv:UnspecifiedMatching OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:ENDOU semapv:UnspecifiedMatching OMIM:606720 ENDOU skos:exactMatch ncbigene:8909 semapv:UnspecifiedMatching -OMIM:606722 NCALD skos:exactMatch hgnc.symbol:NCALD semapv:UnspecifiedMatching OMIM:606722 NCALD skos:exactMatch ncbigene:83988 semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch hgnc.symbol:NCALD semapv:UnspecifiedMatching OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:MAPKAPK5 semapv:UnspecifiedMatching OMIM:606723 MAPKAPK5 skos:exactMatch ncbigene:8550 semapv:UnspecifiedMatching OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:MKNK1 semapv:UnspecifiedMatching OMIM:606724 MKNK1 skos:exactMatch ncbigene:8569 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch ncbigene:54982 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:CLN6 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch UMLS:C1413498 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:CLN6 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch ncbigene:54982 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch ncbigene:57468 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:SLC12A5 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C1422213 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225245 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:SLC12A5 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch ncbigene:57468 semapv:UnspecifiedMatching OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:NKX2-3 semapv:UnspecifiedMatching OMIM:606727 NKX2-3 skos:exactMatch ncbigene:159296 semapv:UnspecifiedMatching -OMIM:606728 CAVIN2 skos:exactMatch ncbigene:8436 semapv:UnspecifiedMatching OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:CAVIN2 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch ncbigene:8436 semapv:UnspecifiedMatching OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:OSBP2 semapv:UnspecifiedMatching OMIM:606729 OSBP2 skos:exactMatch ncbigene:23762 semapv:UnspecifiedMatching -OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:OSBPL1A semapv:UnspecifiedMatching OMIM:606730 OSBPL1A skos:exactMatch ncbigene:114876 semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:OSBPL1A semapv:UnspecifiedMatching OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:OSBPL2 semapv:UnspecifiedMatching OMIM:606731 OSBPL2 skos:exactMatch ncbigene:9885 semapv:UnspecifiedMatching OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:OSBPL3 semapv:UnspecifiedMatching OMIM:606732 OSBPL3 skos:exactMatch ncbigene:26031 semapv:UnspecifiedMatching -OMIM:606733 OSBPL5 skos:exactMatch ncbigene:114879 semapv:UnspecifiedMatching OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:OSBPL5 semapv:UnspecifiedMatching -OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:OSBPL6 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch ncbigene:114879 semapv:UnspecifiedMatching OMIM:606734 OSBPL6 skos:exactMatch ncbigene:114880 semapv:UnspecifiedMatching -OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:OSBPL7 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:OSBPL6 semapv:UnspecifiedMatching OMIM:606735 OSBPL7 skos:exactMatch ncbigene:114881 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:OSBPL7 semapv:UnspecifiedMatching OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:OSBPL8 semapv:UnspecifiedMatching OMIM:606736 OSBPL8 skos:exactMatch ncbigene:114882 semapv:UnspecifiedMatching OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:OSBPL9 semapv:UnspecifiedMatching @@ -22154,206 +22158,206 @@ OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:OSBPL10 semapv:UnspecifiedMatchi OMIM:606738 OSBPL10 skos:exactMatch ncbigene:114884 semapv:UnspecifiedMatching OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:OSBPL11 semapv:UnspecifiedMatching OMIM:606739 OSBPL11 skos:exactMatch ncbigene:114885 semapv:UnspecifiedMatching -OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:ZNF180 semapv:UnspecifiedMatching OMIM:606740 ZNF180 skos:exactMatch ncbigene:7733 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:ZNF180 semapv:UnspecifiedMatching OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:ZNF181 semapv:UnspecifiedMatching OMIM:606741 ZNF181 skos:exactMatch ncbigene:339318 semapv:UnspecifiedMatching -OMIM:606742 TLL1 skos:exactMatch ncbigene:7092 semapv:UnspecifiedMatching OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:TLL1 semapv:UnspecifiedMatching -OMIM:606743 TLL2 skos:exactMatch ncbigene:7093 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch ncbigene:7092 semapv:UnspecifiedMatching OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:TLL2 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch ncbigene:7093 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch ncbigene:56288 semapv:UnspecifiedMatching OMIM:606745 PARD3 skos:exactMatch UMLS:C1423939 semapv:UnspecifiedMatching OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:PARD3 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch ncbigene:56288 semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch ncbigene:56005 semapv:UnspecifiedMatching OMIM:606746 MYDGF skos:exactMatch UMLS:C1424658 semapv:UnspecifiedMatching OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:MYDGF semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch ncbigene:56005 semapv:UnspecifiedMatching OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:VEZF1 semapv:UnspecifiedMatching OMIM:606747 VEZF1 skos:exactMatch ncbigene:7716 semapv:UnspecifiedMatching -OMIM:606748 COTL1 skos:exactMatch ncbigene:23406 semapv:UnspecifiedMatching OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:COTL1 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch ncbigene:23406 semapv:UnspecifiedMatching OMIM:606749 TINAG skos:exactMatch hgnc.symbol:TINAG semapv:UnspecifiedMatching OMIM:606749 TINAG skos:exactMatch ncbigene:27283 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch ncbigene:81030 semapv:UnspecifiedMatching OMIM:606750 ZBP1 skos:exactMatch UMLS:C1424053 semapv:UnspecifiedMatching OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:ZBP1 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch ncbigene:81030 semapv:UnspecifiedMatching OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:TMPRSS5 semapv:UnspecifiedMatching OMIM:606751 TMPRSS5 skos:exactMatch ncbigene:80975 semapv:UnspecifiedMatching -OMIM:606753 TTC4 skos:exactMatch ncbigene:7268 semapv:UnspecifiedMatching OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:TTC4 semapv:UnspecifiedMatching -OMIM:606754 SAMHD1 skos:exactMatch ncbigene:25939 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch ncbigene:7268 semapv:UnspecifiedMatching OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:SAMHD1 semapv:UnspecifiedMatching -OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:PADI3 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch ncbigene:25939 semapv:UnspecifiedMatching OMIM:606755 PADI3 skos:exactMatch ncbigene:51702 semapv:UnspecifiedMatching -OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:HSD17B7 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:PADI3 semapv:UnspecifiedMatching OMIM:606756 HSD17B7 skos:exactMatch ncbigene:51478 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:HSD17B7 semapv:UnspecifiedMatching OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:SLC4A5 semapv:UnspecifiedMatching OMIM:606757 SLC4A5 skos:exactMatch ncbigene:57835 semapv:UnspecifiedMatching OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:DUOX1 semapv:UnspecifiedMatching OMIM:606758 DUOX1 skos:exactMatch ncbigene:53905 semapv:UnspecifiedMatching -OMIM:606759 DUOX2 skos:exactMatch ncbigene:50506 semapv:UnspecifiedMatching OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:DUOX2 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch ncbigene:50506 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch ncbigene:23417 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:MLYCD semapv:UnspecifiedMatching OMIM:606761 MLYCD skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching OMIM:606761 MLYCD skos:exactMatch UMLS:C1417196 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:MLYCD semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch ncbigene:23417 semapv:UnspecifiedMatching OMIM:606765 TPO skos:exactMatch hgnc.symbol:TPO semapv:UnspecifiedMatching OMIM:606765 TPO skos:exactMatch ncbigene:7173 semapv:UnspecifiedMatching -OMIM:606767 KCNG3 skos:exactMatch ncbigene:170850 semapv:UnspecifiedMatching OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:KCNG3 semapv:UnspecifiedMatching -OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch ncbigene:170850 semapv:UnspecifiedMatching OMIM:606769 HELQ skos:exactMatch hgnc.symbol:HELQ semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching OMIM:606774 MIOX skos:exactMatch hgnc.symbol:MIOX semapv:UnspecifiedMatching OMIM:606774 MIOX skos:exactMatch ncbigene:55586 semapv:UnspecifiedMatching -OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:CSPG5 semapv:UnspecifiedMatching OMIM:606775 CSPG5 skos:exactMatch ncbigene:10675 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:CSPG5 semapv:UnspecifiedMatching OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:TGM7 semapv:UnspecifiedMatching OMIM:606776 TGM7 skos:exactMatch ncbigene:116179 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch UMLS:C1539855 semapv:UnspecifiedMatching OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:SSH1 semapv:UnspecifiedMatching OMIM:606778 SSH1 skos:exactMatch ncbigene:54434 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch UMLS:C1539855 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch ncbigene:85464 semapv:UnspecifiedMatching OMIM:606779 SSH2 skos:exactMatch UMLS:C1539856 semapv:UnspecifiedMatching OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:SSH2 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch ncbigene:85464 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch UMLS:C1539857 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:SSH3 semapv:UnspecifiedMatching OMIM:606780 SSH3 skos:exactMatch ncbigene:54961 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:SSH3 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch UMLS:C1539857 semapv:UnspecifiedMatching OMIM:606781 TKT skos:exactMatch hgnc.symbol:TKT semapv:UnspecifiedMatching OMIM:606781 TKT skos:exactMatch ncbigene:7086 semapv:UnspecifiedMatching -OMIM:606782 CLEC1A skos:exactMatch ncbigene:51267 semapv:UnspecifiedMatching OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:CLEC1A semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch ncbigene:51267 semapv:UnspecifiedMatching OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:CLEC1B semapv:UnspecifiedMatching OMIM:606783 CLEC1B skos:exactMatch ncbigene:51266 semapv:UnspecifiedMatching -OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:GSK3A semapv:UnspecifiedMatching OMIM:606784 GSK3A skos:exactMatch ncbigene:2931 semapv:UnspecifiedMatching -OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:GSK3A semapv:UnspecifiedMatching OMIM:606786 CD300C skos:exactMatch ncbigene:10871 semapv:UnspecifiedMatching -OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching OMIM:606790 CD300A skos:exactMatch hgnc.symbol:CD300A semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch ncbigene:93492 semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching OMIM:606791 TPTE2 skos:exactMatch UMLS:C1540044 semapv:UnspecifiedMatching OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:TPTE2 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch ncbigene:93492 semapv:UnspecifiedMatching OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:HRH4 semapv:UnspecifiedMatching OMIM:606792 HRH4 skos:exactMatch ncbigene:59340 semapv:UnspecifiedMatching -OMIM:606793 NPEPPS skos:exactMatch ncbigene:9520 semapv:UnspecifiedMatching OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:NPEPPS semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch ncbigene:9520 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch ncbigene:1468 semapv:UnspecifiedMatching OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:SLC25A10 semapv:UnspecifiedMatching OMIM:606794 SLC25A10 skos:exactMatch UMLS:C1420151 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch ncbigene:1468 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:SLC25A17 semapv:UnspecifiedMatching OMIM:606795 SLC25A17 skos:exactMatch ncbigene:10478 semapv:UnspecifiedMatching -OMIM:606796 ST13 skos:exactMatch ncbigene:6767 semapv:UnspecifiedMatching OMIM:606796 ST13 skos:exactMatch hgnc.symbol:ST13 semapv:UnspecifiedMatching -OMIM:606797 ST14 skos:exactMatch hgnc.symbol:ST14 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch ncbigene:6767 semapv:UnspecifiedMatching OMIM:606797 ST14 skos:exactMatch ncbigene:6768 semapv:UnspecifiedMatching -OMIM:606800 GAA skos:exactMatch hgnc.symbol:GAA semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch hgnc.symbol:ST14 semapv:UnspecifiedMatching OMIM:606800 GAA skos:exactMatch ncbigene:2548 semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch hgnc.symbol:GAA semapv:UnspecifiedMatching OMIM:606801 MAEA skos:exactMatch hgnc.symbol:MAEA semapv:UnspecifiedMatching OMIM:606801 MAEA skos:exactMatch ncbigene:10296 semapv:UnspecifiedMatching OMIM:606802 SPIB skos:exactMatch hgnc.symbol:SPIB semapv:UnspecifiedMatching OMIM:606802 SPIB skos:exactMatch ncbigene:6689 semapv:UnspecifiedMatching -OMIM:606803 ACOT11 skos:exactMatch ncbigene:26027 semapv:UnspecifiedMatching OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:ACOT11 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch ncbigene:26027 semapv:UnspecifiedMatching OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:GOLM1 semapv:UnspecifiedMatching OMIM:606804 GOLM1 skos:exactMatch ncbigene:51280 semapv:UnspecifiedMatching -OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:GOLIM4 semapv:UnspecifiedMatching OMIM:606805 GOLIM4 skos:exactMatch ncbigene:27333 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:GOLIM4 semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch UMLS:C1414832 semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch hgnc.symbol:FTCD semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch ncbigene:10841 semapv:UnspecifiedMatching -OMIM:606807 IL17RD skos:exactMatch ncbigene:54756 semapv:UnspecifiedMatching OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:IL17RD semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch ncbigene:54756 semapv:UnspecifiedMatching OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:MYO3A semapv:UnspecifiedMatching OMIM:606808 MYO3A skos:exactMatch ncbigene:53904 semapv:UnspecifiedMatching OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:ACBD3 semapv:UnspecifiedMatching OMIM:606809 ACBD3 skos:exactMatch ncbigene:64746 semapv:UnspecifiedMatching -OMIM:606810 PRODH skos:exactMatch hgnc.symbol:PRODH semapv:UnspecifiedMatching OMIM:606810 PRODH skos:exactMatch ncbigene:5625 semapv:UnspecifiedMatching -OMIM:606811 ALDH4A1 skos:exactMatch ncbigene:8659 semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch hgnc.symbol:PRODH semapv:UnspecifiedMatching OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:ALDH4A1 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C2936826 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch ncbigene:8659 semapv:UnspecifiedMatching OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C2936826 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:SLC2A6 semapv:UnspecifiedMatching OMIM:606813 SLC2A6 skos:exactMatch ncbigene:11182 semapv:UnspecifiedMatching -OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:PRG3 semapv:UnspecifiedMatching OMIM:606814 PRG3 skos:exactMatch ncbigene:10394 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:PRG3 semapv:UnspecifiedMatching OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:CITED4 semapv:UnspecifiedMatching OMIM:606815 CITED4 skos:exactMatch ncbigene:163732 semapv:UnspecifiedMatching -OMIM:606816 SIDT1 skos:exactMatch ncbigene:54847 semapv:UnspecifiedMatching OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:SIDT1 semapv:UnspecifiedMatching -OMIM:606817 PTCRA skos:exactMatch ncbigene:171558 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch ncbigene:54847 semapv:UnspecifiedMatching OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:PTCRA semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch ncbigene:171558 semapv:UnspecifiedMatching OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:DPP3 semapv:UnspecifiedMatching OMIM:606818 DPP3 skos:exactMatch ncbigene:10072 semapv:UnspecifiedMatching -OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:DPP8 semapv:UnspecifiedMatching OMIM:606819 DPP8 skos:exactMatch ncbigene:54878 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:DPP8 semapv:UnspecifiedMatching OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:GLRX2 semapv:UnspecifiedMatching OMIM:606820 GLRX2 skos:exactMatch ncbigene:51022 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch hgnc.symbol:COG5 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch ncbigene:10466 semapv:UnspecifiedMatching OMIM:606821 COG5 skos:exactMatch UMLS:C1423002 semapv:UnspecifiedMatching OMIM:606821 COG5 skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C1826644 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch hgnc.symbol:COG5 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch ncbigene:10466 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:POMGNT1 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch ncbigene:55624 semapv:UnspecifiedMatching -OMIM:606823 ADGRA2 skos:exactMatch ncbigene:25960 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:POMGNT1 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C1826644 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:ADGRA2 semapv:UnspecifiedMatching -OMIM:606825 TNS3 skos:exactMatch ncbigene:64759 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch ncbigene:25960 semapv:UnspecifiedMatching OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:TNS3 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch ncbigene:64759 semapv:UnspecifiedMatching OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:PLXDC1 semapv:UnspecifiedMatching OMIM:606826 PLXDC1 skos:exactMatch ncbigene:57125 semapv:UnspecifiedMatching -OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:PLXDC2 semapv:UnspecifiedMatching OMIM:606827 PLXDC2 skos:exactMatch ncbigene:84898 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:PLXDC2 semapv:UnspecifiedMatching OMIM:606828 NAGK skos:exactMatch hgnc.symbol:NAGK semapv:UnspecifiedMatching OMIM:606828 NAGK skos:exactMatch ncbigene:55577 semapv:UnspecifiedMatching OMIM:606829 FXN skos:exactMatch hgnc.symbol:FXN semapv:UnspecifiedMatching OMIM:606829 FXN skos:exactMatch ncbigene:2395 semapv:UnspecifiedMatching -OMIM:606830 AGTPBP1 skos:exactMatch ncbigene:23287 semapv:UnspecifiedMatching OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:AGTPBP1 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch ncbigene:23287 semapv:UnspecifiedMatching OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:NLRC4 semapv:UnspecifiedMatching OMIM:606831 NLRC4 skos:exactMatch ncbigene:58484 semapv:UnspecifiedMatching -OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:ERAP1 semapv:UnspecifiedMatching OMIM:606832 ERAP1 skos:exactMatch ncbigene:51752 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:ERAP1 semapv:UnspecifiedMatching OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:KMT2C semapv:UnspecifiedMatching OMIM:606833 KMT2C skos:exactMatch ncbigene:58508 semapv:UnspecifiedMatching OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:KMT2B semapv:UnspecifiedMatching OMIM:606834 KMT2B skos:exactMatch ncbigene:9757 semapv:UnspecifiedMatching -OMIM:606836 GCNT3 skos:exactMatch ncbigene:9245 semapv:UnspecifiedMatching OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:GCNT3 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch ncbigene:9245 semapv:UnspecifiedMatching OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:RB1CC1 semapv:UnspecifiedMatching OMIM:606837 RB1CC1 skos:exactMatch ncbigene:9821 semapv:UnspecifiedMatching -OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:PYCARD semapv:UnspecifiedMatching OMIM:606838 PYCARD skos:exactMatch ncbigene:29108 semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:PYCARD semapv:UnspecifiedMatching OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:CDHR5 semapv:UnspecifiedMatching OMIM:606839 CDHR5 skos:exactMatch ncbigene:53841 semapv:UnspecifiedMatching OMIM:606841 DEDD skos:exactMatch hgnc.symbol:DEDD semapv:UnspecifiedMatching OMIM:606841 DEDD skos:exactMatch ncbigene:9191 semapv:UnspecifiedMatching -OMIM:606844 ALMS1 skos:exactMatch ncbigene:7840 semapv:UnspecifiedMatching OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:ALMS1 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch ncbigene:7840 semapv:UnspecifiedMatching OMIM:606845 GOPC skos:exactMatch hgnc.symbol:GOPC semapv:UnspecifiedMatching OMIM:606845 GOPC skos:exactMatch ncbigene:57120 semapv:UnspecifiedMatching -OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:SMYD1 semapv:UnspecifiedMatching OMIM:606846 SMYD1 skos:exactMatch ncbigene:150572 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:SMYD1 semapv:UnspecifiedMatching OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:TCOF1 semapv:UnspecifiedMatching OMIM:606847 TCOF1 skos:exactMatch ncbigene:6949 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch UMLS:C1421968 semapv:UnspecifiedMatching OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:NEK7 semapv:UnspecifiedMatching OMIM:606848 NEK7 skos:exactMatch ncbigene:140609 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch UMLS:C1421968 semapv:UnspecifiedMatching OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:UBL5 semapv:UnspecifiedMatching OMIM:606849 UBL5 skos:exactMatch ncbigene:59286 semapv:UnspecifiedMatching OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:MIPOL1 semapv:UnspecifiedMatching OMIM:606850 MIPOL1 skos:exactMatch ncbigene:145282 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:ATP6V1G2 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch ncbigene:534 semapv:UnspecifiedMatching -OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:RLN3 semapv:UnspecifiedMatching OMIM:606855 RLN3 skos:exactMatch ncbigene:117579 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:RLN3 semapv:UnspecifiedMatching OMIM:606857 GCLC skos:exactMatch hgnc.symbol:GCLC semapv:UnspecifiedMatching OMIM:606857 GCLC skos:exactMatch ncbigene:2729 semapv:UnspecifiedMatching OMIM:606860 C1NH skos:exactMatch hgnc.symbol:SERPING1 semapv:UnspecifiedMatching @@ -22363,19 +22367,19 @@ OMIM:606861 PATE skos:exactMatch ncbigene:160065 semapv:UnspecifiedMatching OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:OSCAR semapv:UnspecifiedMatching OMIM:606862 OSCAR skos:exactMatch ncbigene:126014 semapv:UnspecifiedMatching OMIM:606862 OSCAR skos:exactMatch UMLS:C1847321 semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch UMLS:C1847320 semapv:UnspecifiedMatching OMIM:606863 TOX skos:exactMatch hgnc.symbol:TOX semapv:UnspecifiedMatching OMIM:606863 TOX skos:exactMatch ncbigene:9760 semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch UMLS:C1847320 semapv:UnspecifiedMatching OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:FUT9 semapv:UnspecifiedMatching OMIM:606865 FUT9 skos:exactMatch ncbigene:10690 semapv:UnspecifiedMatching OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:MRPL49 semapv:UnspecifiedMatching OMIM:606866 MRPL49 skos:exactMatch ncbigene:740 semapv:UnspecifiedMatching -OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:GORASP1 semapv:UnspecifiedMatching OMIM:606867 GORASP1 skos:exactMatch ncbigene:64689 semapv:UnspecifiedMatching -OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:HIPK2 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:GORASP1 semapv:UnspecifiedMatching OMIM:606868 HIPK2 skos:exactMatch ncbigene:28996 semapv:UnspecifiedMatching -OMIM:606869 HEXA skos:exactMatch ncbigene:3073 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:HIPK2 semapv:UnspecifiedMatching OMIM:606869 HEXA skos:exactMatch hgnc.symbol:HEXA semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch ncbigene:3073 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch UMLS:C1422840 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:JAM2 semapv:UnspecifiedMatching @@ -22384,137 +22388,137 @@ OMIM:606871 JAM3 skos:exactMatch UMLS:C1423559 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch UMLS:C3151000 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:JAM3 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch ncbigene:83700 semapv:UnspecifiedMatching -OMIM:606872 CBLL1 skos:exactMatch ncbigene:79872 semapv:UnspecifiedMatching OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:CBLL1 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch ncbigene:79872 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310887 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310888 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310842 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch ncbigene:3074 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch hgnc.symbol:HEXB semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310888 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310887 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C1849322 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C4016989 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310842 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C1849321 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C1849320 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C1415523 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C0751490 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C0751489 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C1849322 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:PITPNB semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch ncbigene:23760 semapv:UnspecifiedMatching -OMIM:606877 ANP32C skos:exactMatch hgnc.symbol:ANP32C semapv:UnspecifiedMatching OMIM:606877 ANP32C skos:exactMatch ncbigene:23520 semapv:UnspecifiedMatching +OMIM:606877 ANP32C skos:exactMatch hgnc.symbol:ANP32C semapv:UnspecifiedMatching OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:ANP32D semapv:UnspecifiedMatching OMIM:606878 ANP32D skos:exactMatch ncbigene:23519 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch ncbigene:26227 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch UMLS:C1418531 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:PHGDH semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch UMLS:C1418531 semapv:UnspecifiedMatching -OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:CASP8AP2 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch ncbigene:26227 semapv:UnspecifiedMatching OMIM:606880 CASP8AP2 skos:exactMatch ncbigene:9994 semapv:UnspecifiedMatching -OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:FHOD1 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:CASP8AP2 semapv:UnspecifiedMatching OMIM:606881 FHOD1 skos:exactMatch ncbigene:29109 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:FHOD1 semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch UMLS:C1412689 semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:ATP7B semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch ncbigene:540 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch ncbigene:51135 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:IRAK4 semapv:UnspecifiedMatching OMIM:606883 IRAK4 skos:exactMatch UMLS:C1334137 semapv:UnspecifiedMatching OMIM:606883 IRAK4 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching -OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:RBM5 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:IRAK4 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch ncbigene:51135 semapv:UnspecifiedMatching OMIM:606884 RBM5 skos:exactMatch ncbigene:10181 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:RBM5 semapv:UnspecifiedMatching OMIM:606885 ACADS skos:exactMatch hgnc.symbol:ACADS semapv:UnspecifiedMatching OMIM:606885 ACADS skos:exactMatch ncbigene:35 semapv:UnspecifiedMatching OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:RBM6 semapv:UnspecifiedMatching OMIM:606886 RBM6 skos:exactMatch ncbigene:10180 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch ncbigene:6821 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch hgnc.symbol:SUOX semapv:UnspecifiedMatching OMIM:606887 SUOX skos:exactMatch UMLS:C1420521 semapv:UnspecifiedMatching OMIM:606887 SUOX skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch hgnc.symbol:SUOX semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch ncbigene:6821 semapv:UnspecifiedMatching OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:CHRNA6 semapv:UnspecifiedMatching OMIM:606888 CHRNA6 skos:exactMatch ncbigene:8973 semapv:UnspecifiedMatching -OMIM:606890 GALC skos:exactMatch hgnc.symbol:GALC semapv:UnspecifiedMatching OMIM:606890 GALC skos:exactMatch ncbigene:2581 semapv:UnspecifiedMatching -OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:FCRLA semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch hgnc.symbol:GALC semapv:UnspecifiedMatching OMIM:606891 FCRLA skos:exactMatch ncbigene:84824 semapv:UnspecifiedMatching -OMIM:606892 STX12 skos:exactMatch ncbigene:23673 semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:FCRLA semapv:UnspecifiedMatching OMIM:606892 STX12 skos:exactMatch hgnc.symbol:STX12 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch ncbigene:23673 semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch hgnc.symbol:LYST semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch ncbigene:1130 semapv:UnspecifiedMatching OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:CACNG6 semapv:UnspecifiedMatching OMIM:606898 CACNG6 skos:exactMatch ncbigene:59285 semapv:UnspecifiedMatching OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:CACNG7 semapv:UnspecifiedMatching OMIM:606899 CACNG7 skos:exactMatch ncbigene:59284 semapv:UnspecifiedMatching -OMIM:606900 CACNG8 skos:exactMatch ncbigene:59283 semapv:UnspecifiedMatching OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:CACNG8 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch ncbigene:59283 semapv:UnspecifiedMatching OMIM:606902 PYGO1 skos:exactMatch ncbigene:26108 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:PYGO1 semapv:UnspecifiedMatching OMIM:606902 PYGO1 skos:exactMatch UMLS:C1538758 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:PYGO1 semapv:UnspecifiedMatching OMIM:606903 PYGO2 skos:exactMatch UMLS:C1538759 semapv:UnspecifiedMatching OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:PYGO2 semapv:UnspecifiedMatching OMIM:606903 PYGO2 skos:exactMatch ncbigene:90780 semapv:UnspecifiedMatching OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:PREX1 semapv:UnspecifiedMatching OMIM:606905 PREX1 skos:exactMatch ncbigene:57580 semapv:UnspecifiedMatching -OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:MRM2 semapv:UnspecifiedMatching OMIM:606906 MRM2 skos:exactMatch ncbigene:29960 semapv:UnspecifiedMatching -OMIM:606907 APOM skos:exactMatch hgnc.symbol:APOM semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:MRM2 semapv:UnspecifiedMatching OMIM:606907 APOM skos:exactMatch ncbigene:55937 semapv:UnspecifiedMatching -OMIM:606908 ARFGAP2 skos:exactMatch ncbigene:84364 semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch hgnc.symbol:APOM semapv:UnspecifiedMatching OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:ARFGAP2 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch ncbigene:84364 semapv:UnspecifiedMatching OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:VAMP4 semapv:UnspecifiedMatching OMIM:606909 VAMP4 skos:exactMatch ncbigene:8674 semapv:UnspecifiedMatching OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:BCL2L10 semapv:UnspecifiedMatching OMIM:606910 BCL2L10 skos:exactMatch ncbigene:10017 semapv:UnspecifiedMatching OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:SCAMP1 semapv:UnspecifiedMatching OMIM:606911 SCAMP1 skos:exactMatch ncbigene:9522 semapv:UnspecifiedMatching -OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:SCAMP2 semapv:UnspecifiedMatching OMIM:606912 SCAMP2 skos:exactMatch ncbigene:10066 semapv:UnspecifiedMatching -OMIM:606913 SCAMP3 skos:exactMatch ncbigene:10067 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:SCAMP2 semapv:UnspecifiedMatching OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:SCAMP3 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch ncbigene:10067 semapv:UnspecifiedMatching OMIM:606914 PKIB skos:exactMatch hgnc.symbol:PKIB semapv:UnspecifiedMatching OMIM:606914 PKIB skos:exactMatch ncbigene:5570 semapv:UnspecifiedMatching OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:GPR63 semapv:UnspecifiedMatching OMIM:606915 GPR63 skos:exactMatch ncbigene:81491 semapv:UnspecifiedMatching -OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:GPR61 semapv:UnspecifiedMatching OMIM:606916 GPR61 skos:exactMatch ncbigene:83873 semapv:UnspecifiedMatching -OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:GPR62 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:GPR61 semapv:UnspecifiedMatching OMIM:606917 GPR62 skos:exactMatch ncbigene:118442 semapv:UnspecifiedMatching -OMIM:606918 GOLGA5 skos:exactMatch ncbigene:9950 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:GPR62 semapv:UnspecifiedMatching OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:GOLGA5 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch ncbigene:9950 semapv:UnspecifiedMatching OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:CERS1 semapv:UnspecifiedMatching OMIM:606919 CERS1 skos:exactMatch ncbigene:10715 semapv:UnspecifiedMatching OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:CERS2 semapv:UnspecifiedMatching OMIM:606920 CERS2 skos:exactMatch ncbigene:29956 semapv:UnspecifiedMatching OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:GPR78 semapv:UnspecifiedMatching OMIM:606921 GPR78 skos:exactMatch ncbigene:27201 semapv:UnspecifiedMatching -OMIM:606922 GPR80 skos:exactMatch hgnc.symbol:OXGR1 semapv:UnspecifiedMatching -OMIM:606922 GPR80 skos:exactMatch ncbigene:27199 semapv:UnspecifiedMatching -OMIM:606923 HCAR1 skos:exactMatch ncbigene:27198 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch ncbigene:27199 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:OXGR1 semapv:UnspecifiedMatching OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:HCAR1 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch ncbigene:27198 semapv:UnspecifiedMatching OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:QRFPR semapv:UnspecifiedMatching OMIM:606925 QRFPR skos:exactMatch ncbigene:84109 semapv:UnspecifiedMatching OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:LPAR5 semapv:UnspecifiedMatching OMIM:606926 LPAR5 skos:exactMatch ncbigene:57121 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:TAAR8 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch ncbigene:83551 semapv:UnspecifiedMatching -OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching OMIM:606929 THOC3 skos:exactMatch ncbigene:84321 semapv:UnspecifiedMatching -OMIM:606930 THOC1 skos:exactMatch ncbigene:9984 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:THOC1 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch ncbigene:9984 semapv:UnspecifiedMatching OMIM:606932 VPS29 skos:exactMatch UMLS:C1422577 semapv:UnspecifiedMatching OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:VPS29 semapv:UnspecifiedMatching OMIM:606932 VPS29 skos:exactMatch ncbigene:51699 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C3149136 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch ncbigene:7299 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch hgnc.symbol:TYR semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C4551504 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C4225528 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C2677190 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C1847132 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C2677190 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C1421250 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C3149136 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:NDUFAF1 semapv:UnspecifiedMatching OMIM:606934 NDUFAF1 skos:exactMatch ncbigene:51103 semapv:UnspecifiedMatching OMIM:606935 RBM17 skos:exactMatch ncbigene:84991 semapv:UnspecifiedMatching @@ -22527,11 +22531,11 @@ OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:ATP6V1B2 semapv:UnspecifiedMatc OMIM:606939 ATP6V1B2 skos:exactMatch ncbigene:526 semapv:UnspecifiedMatching OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:ZFHX4 semapv:UnspecifiedMatching OMIM:606940 ZFHX4 skos:exactMatch ncbigene:79776 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch ncbigene:79796 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:ALG9 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch ncbigene:79796 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch UMLS:C1538263 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch UMLS:C1538263 semapv:UnspecifiedMatching OMIM:606942 COPE skos:exactMatch hgnc.symbol:COPE semapv:UnspecifiedMatching OMIM:606942 COPE skos:exactMatch ncbigene:11316 semapv:UnspecifiedMatching OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:ERBIN semapv:UnspecifiedMatching @@ -22541,186 +22545,186 @@ OMIM:606945 LDLR skos:exactMatch ncbigene:3949 semapv:UnspecifiedMatching OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:ANAPC2 semapv:UnspecifiedMatching OMIM:606946 ANAPC2 skos:exactMatch ncbigene:29882 semapv:UnspecifiedMatching OMIM:606946 ANAPC2 skos:exactMatch UMLS:C1426586 semapv:UnspecifiedMatching -OMIM:606947 ANAPC4 skos:exactMatch ncbigene:29945 semapv:UnspecifiedMatching OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:ANAPC4 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch ncbigene:29945 semapv:UnspecifiedMatching OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:ANAPC5 semapv:UnspecifiedMatching OMIM:606948 ANAPC5 skos:exactMatch ncbigene:51433 semapv:UnspecifiedMatching OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:ANAPC7 semapv:UnspecifiedMatching OMIM:606949 ANAPC7 skos:exactMatch ncbigene:51434 semapv:UnspecifiedMatching -OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:TRHDE semapv:UnspecifiedMatching OMIM:606950 TRHDE skos:exactMatch ncbigene:29953 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:IFIH1 semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:TRHDE semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch ncbigene:64135 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:IFIH1 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch UMLS:C1537399 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch UMLS:C4225427 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch ncbigene:2582 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch UMLS:C4017048 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch hgnc.symbol:GALE semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch UMLS:C4017048 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch UMLS:C1439333 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:ZNF253 semapv:UnspecifiedMatching OMIM:606954 ZNF253 skos:exactMatch ncbigene:56242 semapv:UnspecifiedMatching OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:ZNF256 semapv:UnspecifiedMatching OMIM:606956 ZNF256 skos:exactMatch ncbigene:10172 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:ZNF257 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch ncbigene:113835 semapv:UnspecifiedMatching -OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching OMIM:606958 MPP5 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching +OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching OMIM:606959 MPP6 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching OMIM:606959 MPP6 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching -OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:WBP1 semapv:UnspecifiedMatching -OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:WBP2 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch hgnc.symbol:STK38 semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch ncbigene:11329 semapv:UnspecifiedMatching -OMIM:606965 FASTK skos:exactMatch hgnc.symbol:FASTK semapv:UnspecifiedMatching OMIM:606965 FASTK skos:exactMatch ncbigene:10922 semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch hgnc.symbol:FASTK semapv:UnspecifiedMatching OMIM:606967 LCAT skos:exactMatch hgnc.symbol:LCAT semapv:UnspecifiedMatching OMIM:606967 LCAT skos:exactMatch ncbigene:3931 semapv:UnspecifiedMatching OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:EEF2K semapv:UnspecifiedMatching OMIM:606968 EEF2K skos:exactMatch ncbigene:29904 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch UMLS:C1423680 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching -OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching OMIM:606973 COG1 skos:exactMatch ncbigene:9382 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching OMIM:606974 COG2 skos:exactMatch hgnc.symbol:COG2 semapv:UnspecifiedMatching OMIM:606974 COG2 skos:exactMatch ncbigene:22796 semapv:UnspecifiedMatching OMIM:606975 COG3 skos:exactMatch hgnc.symbol:COG3 semapv:UnspecifiedMatching OMIM:606975 COG3 skos:exactMatch ncbigene:83548 semapv:UnspecifiedMatching -OMIM:606976 COG4 skos:exactMatch ncbigene:25839 semapv:UnspecifiedMatching OMIM:606976 COG4 skos:exactMatch hgnc.symbol:COG4 semapv:UnspecifiedMatching -OMIM:606977 COG6 skos:exactMatch ncbigene:57511 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch ncbigene:25839 semapv:UnspecifiedMatching OMIM:606977 COG6 skos:exactMatch hgnc.symbol:COG6 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch ncbigene:57511 semapv:UnspecifiedMatching OMIM:606978 COG7 skos:exactMatch hgnc.symbol:COG7 semapv:UnspecifiedMatching OMIM:606978 COG7 skos:exactMatch ncbigene:91949 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch ncbigene:84342 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch hgnc.symbol:COG8 semapv:UnspecifiedMatching OMIM:606979 COG8 skos:exactMatch UMLS:C1425655 semapv:UnspecifiedMatching OMIM:606979 COG8 skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch hgnc.symbol:COG8 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch ncbigene:84342 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:COQ8A semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch ncbigene:56997 semapv:UnspecifiedMatching OMIM:606980 COQ8A skos:exactMatch UMLS:C1424564 semapv:UnspecifiedMatching OMIM:606980 COQ8A skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:COQ8A semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch ncbigene:56997 semapv:UnspecifiedMatching OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:GNG2 semapv:UnspecifiedMatching OMIM:606981 GNG2 skos:exactMatch ncbigene:54331 semapv:UnspecifiedMatching OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:GGPS1 semapv:UnspecifiedMatching OMIM:606982 GGPS1 skos:exactMatch ncbigene:9453 semapv:UnspecifiedMatching -OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:DGAT2 semapv:UnspecifiedMatching OMIM:606983 DGAT2 skos:exactMatch ncbigene:84649 semapv:UnspecifiedMatching -OMIM:606985 ELP4 skos:exactMatch ncbigene:26610 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:DGAT2 semapv:UnspecifiedMatching OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:ELP4 semapv:UnspecifiedMatching -OMIM:606987 GRK7 skos:exactMatch ncbigene:131890 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch ncbigene:26610 semapv:UnspecifiedMatching OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:GRK7 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch ncbigene:131890 semapv:UnspecifiedMatching OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:CHP1 semapv:UnspecifiedMatching OMIM:606988 CHP1 skos:exactMatch ncbigene:11261 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1417245 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1969821 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch hgnc.symbol:MPO semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch ncbigene:4353 semapv:UnspecifiedMatching -OMIM:606990 COPB2 skos:exactMatch ncbigene:9276 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch hgnc.symbol:MPO semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1969821 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1417245 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:COPB2 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch ncbigene:9276 semapv:UnspecifiedMatching OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:IP6K1 semapv:UnspecifiedMatching OMIM:606991 IP6K1 skos:exactMatch ncbigene:9807 semapv:UnspecifiedMatching OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:IP6K2 semapv:UnspecifiedMatching OMIM:606992 IP6K2 skos:exactMatch ncbigene:51447 semapv:UnspecifiedMatching -OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:IP6K3 semapv:UnspecifiedMatching OMIM:606993 IP6K3 skos:exactMatch ncbigene:117283 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:IP6K3 semapv:UnspecifiedMatching OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:TNK2 semapv:UnspecifiedMatching OMIM:606994 TNK2 skos:exactMatch ncbigene:10188 semapv:UnspecifiedMatching -OMIM:606997 C1D skos:exactMatch ncbigene:10438 semapv:UnspecifiedMatching OMIM:606997 C1D skos:exactMatch hgnc.symbol:C1D semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch ncbigene:10438 semapv:UnspecifiedMatching OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:FLOT1 semapv:UnspecifiedMatching OMIM:606998 FLOT1 skos:exactMatch ncbigene:10211 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch hgnc.symbol:GALT semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch ncbigene:2592 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C4017051 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C4017052 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C4017051 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C4017050 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C3278146 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C1414962 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C4017050 semapv:UnspecifiedMatching OMIM:607000 MED24 skos:exactMatch UMLS:C1427816 semapv:UnspecifiedMatching OMIM:607000 MED24 skos:exactMatch hgnc.symbol:MED24 semapv:UnspecifiedMatching OMIM:607000 MED24 skos:exactMatch ncbigene:9862 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch ncbigene:79813 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:EHMT1 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch UMLS:C0795833 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch UMLS:C1539338 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch ncbigene:79813 semapv:UnspecifiedMatching OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:PROK2 semapv:UnspecifiedMatching OMIM:607002 PROK2 skos:exactMatch ncbigene:60675 semapv:UnspecifiedMatching -OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching OMIM:607003 TSLP skos:exactMatch hgnc.symbol:TSLP semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch ncbigene:25929 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch UMLS:C1426633 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:GEMIN5 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch ncbigene:25929 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch UMLS:C1426634 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:GEMIN6 semapv:UnspecifiedMatching OMIM:607006 GEMIN6 skos:exactMatch ncbigene:79833 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:GEMIN6 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch UMLS:C1426634 semapv:UnspecifiedMatching OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:SNAPIN semapv:UnspecifiedMatching OMIM:607007 SNAPIN skos:exactMatch ncbigene:23557 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch ncbigene:34 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch hgnc.symbol:ACADM semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C1412107 semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C4017054 semapv:UnspecifiedMatching -OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:TRPM6 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch hgnc.symbol:ACADM semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch ncbigene:34 semapv:UnspecifiedMatching OMIM:607009 TRPM6 skos:exactMatch ncbigene:140803 semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:DCP1A semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:TRPM6 semapv:UnspecifiedMatching OMIM:607010 DCP1A skos:exactMatch UMLS:C1539225 semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:DCP1A semapv:UnspecifiedMatching OMIM:607010 DCP1A skos:exactMatch ncbigene:55802 semapv:UnspecifiedMatching -OMIM:607011 USP17 skos:exactMatch ncbigene:391627 semapv:UnspecifiedMatching OMIM:607011 USP17 skos:exactMatch hgnc.symbol:USP17L9P semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch ncbigene:391627 semapv:UnspecifiedMatching OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:BDP1 semapv:UnspecifiedMatching OMIM:607012 BDP1 skos:exactMatch ncbigene:55814 semapv:UnspecifiedMatching OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:BRF2 semapv:UnspecifiedMatching OMIM:607013 BRF2 skos:exactMatch ncbigene:55290 semapv:UnspecifiedMatching -OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:ADGRL2 semapv:UnspecifiedMatching OMIM:607018 ADGRL2 skos:exactMatch ncbigene:23266 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:ADGRL2 semapv:UnspecifiedMatching OMIM:607019 RASSF3 skos:exactMatch ncbigene:283349 semapv:UnspecifiedMatching OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:RASSF3 semapv:UnspecifiedMatching -OMIM:607020 RASSF5 skos:exactMatch ncbigene:83593 semapv:UnspecifiedMatching OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:RASSF5 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch ncbigene:83593 semapv:UnspecifiedMatching OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:SEZ6L semapv:UnspecifiedMatching OMIM:607021 SEZ6L skos:exactMatch ncbigene:23544 semapv:UnspecifiedMatching OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:CTCFL semapv:UnspecifiedMatching OMIM:607022 CTCFL skos:exactMatch ncbigene:140690 semapv:UnspecifiedMatching -OMIM:607023 PLK2 skos:exactMatch ncbigene:10769 semapv:UnspecifiedMatching OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:PLK2 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:DBR1 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch ncbigene:10769 semapv:UnspecifiedMatching OMIM:607024 DBR1 skos:exactMatch ncbigene:51163 semapv:UnspecifiedMatching OMIM:607024 DBR1 skos:exactMatch UMLS:C1423603 semapv:UnspecifiedMatching -OMIM:607025 MELK skos:exactMatch ncbigene:9833 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:DBR1 semapv:UnspecifiedMatching OMIM:607025 MELK skos:exactMatch hgnc.symbol:MELK semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch ncbigene:9833 semapv:UnspecifiedMatching OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:NAV2 semapv:UnspecifiedMatching OMIM:607026 NAV2 skos:exactMatch ncbigene:89797 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C1412672 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:ATP6V1A semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch ncbigene:523 semapv:UnspecifiedMatching -OMIM:607028 ATP6V0D1 skos:exactMatch ncbigene:9114 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C1412672 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:ATP6V0D1 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch ncbigene:9114 semapv:UnspecifiedMatching OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:VAMP5 semapv:UnspecifiedMatching OMIM:607029 VAMP5 skos:exactMatch ncbigene:10791 semapv:UnspecifiedMatching OMIM:607030 GCA skos:exactMatch hgnc.symbol:GCA semapv:UnspecifiedMatching OMIM:607030 GCA skos:exactMatch ncbigene:25801 semapv:UnspecifiedMatching OMIM:607031 LIAS skos:exactMatch hgnc.symbol:LIAS semapv:UnspecifiedMatching OMIM:607031 LIAS skos:exactMatch ncbigene:11019 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:SMG1 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch UMLS:C1846919 semapv:UnspecifiedMatching OMIM:607032 SMG1 skos:exactMatch ncbigene:23049 semapv:UnspecifiedMatching -OMIM:607033 TFB1M skos:exactMatch ncbigene:51106 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch UMLS:C1846919 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:SMG1 semapv:UnspecifiedMatching OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:TFB1M semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch ncbigene:51106 semapv:UnspecifiedMatching OMIM:607035 SUFU skos:exactMatch hgnc.symbol:SUFU semapv:UnspecifiedMatching OMIM:607035 SUFU skos:exactMatch ncbigene:51684 semapv:UnspecifiedMatching OMIM:607036 IVD skos:exactMatch hgnc.symbol:IVD semapv:UnspecifiedMatching @@ -22729,91 +22733,91 @@ OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:EHHADH semapv:UnspecifiedMatching OMIM:607037 EHHADH skos:exactMatch ncbigene:1962 semapv:UnspecifiedMatching OMIM:607038 OTOA skos:exactMatch ncbigene:146183 semapv:UnspecifiedMatching OMIM:607038 OTOA skos:exactMatch hgnc.symbol:OTOA semapv:UnspecifiedMatching -OMIM:607040 ABCC11 skos:exactMatch ncbigene:85320 semapv:UnspecifiedMatching OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:ABCC11 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch ncbigene:85320 semapv:UnspecifiedMatching OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:ABCC12 semapv:UnspecifiedMatching OMIM:607041 ABCC12 skos:exactMatch ncbigene:94160 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C1413495 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C4017059 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:CLN3 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C4017059 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch ncbigene:1201 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C1413495 semapv:UnspecifiedMatching OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:TRAF3IP2 semapv:UnspecifiedMatching OMIM:607043 TRAF3IP2 skos:exactMatch ncbigene:10758 semapv:UnspecifiedMatching -OMIM:607045 RMST skos:exactMatch ncbigene:196475 semapv:UnspecifiedMatching OMIM:607045 RMST skos:exactMatch hgnc.symbol:RMST semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch ncbigene:56993 semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch ncbigene:196475 semapv:UnspecifiedMatching OMIM:607046 TOMM22 skos:exactMatch UMLS:C1425230 semapv:UnspecifiedMatching OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:TOMM22 semapv:UnspecifiedMatching -OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:ATXN3 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch ncbigene:56993 semapv:UnspecifiedMatching OMIM:607047 ATXN3 skos:exactMatch ncbigene:4287 semapv:UnspecifiedMatching -OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:STARD3 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:ATXN3 semapv:UnspecifiedMatching OMIM:607048 STARD3 skos:exactMatch ncbigene:10948 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:STARD3 semapv:UnspecifiedMatching OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:STARD4 semapv:UnspecifiedMatching OMIM:607049 STARD4 skos:exactMatch ncbigene:134429 semapv:UnspecifiedMatching OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:STARD5 semapv:UnspecifiedMatching OMIM:607050 STARD5 skos:exactMatch ncbigene:80765 semapv:UnspecifiedMatching -OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:STARD6 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:TUSC2 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch ncbigene:11334 semapv:UnspecifiedMatching -OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching OMIM:607054 PHLDA3 skos:exactMatch ncbigene:23612 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:TFB2M semapv:UnspecifiedMatching OMIM:607055 TFB2M skos:exactMatch ncbigene:64216 semapv:UnspecifiedMatching OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:IMPG2 semapv:UnspecifiedMatching OMIM:607056 IMPG2 skos:exactMatch ncbigene:50939 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch ncbigene:11274 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch hgnc.symbol:USP18 semapv:UnspecifiedMatching OMIM:607057 USP18 skos:exactMatch UMLS:C1421395 semapv:UnspecifiedMatching OMIM:607057 USP18 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching -OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:GJD2 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch hgnc.symbol:USP18 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch ncbigene:11274 semapv:UnspecifiedMatching OMIM:607058 GJD2 skos:exactMatch ncbigene:57369 semapv:UnspecifiedMatching -OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:SLC39A4 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:GJD2 semapv:UnspecifiedMatching OMIM:607059 SLC39A4 skos:exactMatch ncbigene:55630 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:SLC39A4 semapv:UnspecifiedMatching OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:PTGES3 semapv:UnspecifiedMatching OMIM:607061 PTGES3 skos:exactMatch ncbigene:10728 semapv:UnspecifiedMatching -OMIM:607062 FKBP7 skos:exactMatch ncbigene:51661 semapv:UnspecifiedMatching OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:FKBP7 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch ncbigene:51661 semapv:UnspecifiedMatching OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:FKBP10 semapv:UnspecifiedMatching OMIM:607063 FKBP10 skos:exactMatch ncbigene:60681 semapv:UnspecifiedMatching OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:PCOLCE2 semapv:UnspecifiedMatching OMIM:607064 PCOLCE2 skos:exactMatch ncbigene:26577 semapv:UnspecifiedMatching -OMIM:607065 QPCT skos:exactMatch hgnc.symbol:QPCT semapv:UnspecifiedMatching OMIM:607065 QPCT skos:exactMatch ncbigene:25797 semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch hgnc.symbol:QPCT semapv:UnspecifiedMatching OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:TRPV3 semapv:UnspecifiedMatching OMIM:607066 TRPV3 skos:exactMatch ncbigene:162514 semapv:UnspecifiedMatching -OMIM:607067 saitohin skos:exactMatch ncbigene:246744 semapv:UnspecifiedMatching OMIM:607067 saitohin skos:exactMatch hgnc.symbol:STH semapv:UnspecifiedMatching +OMIM:607067 saitohin skos:exactMatch ncbigene:246744 semapv:UnspecifiedMatching OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:CYB561D2 semapv:UnspecifiedMatching OMIM:607068 CYB561D2 skos:exactMatch ncbigene:11068 semapv:UnspecifiedMatching OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:TMEM115 semapv:UnspecifiedMatching OMIM:607069 TMEM115 skos:exactMatch ncbigene:11070 semapv:UnspecifiedMatching OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:ZMYND10 semapv:UnspecifiedMatching OMIM:607070 ZMYND10 skos:exactMatch ncbigene:51364 semapv:UnspecifiedMatching -OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:HYAL1 semapv:UnspecifiedMatching OMIM:607071 HYAL1 skos:exactMatch ncbigene:3373 semapv:UnspecifiedMatching -OMIM:607072 NPRL2 skos:exactMatch ncbigene:10641 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:HYAL1 semapv:UnspecifiedMatching OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:NPRL2 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch ncbigene:10641 semapv:UnspecifiedMatching OMIM:607073 NAA80 skos:exactMatch UMLS:C1538043 semapv:UnspecifiedMatching OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:NAA80 semapv:UnspecifiedMatching OMIM:607073 NAA80 skos:exactMatch ncbigene:24142 semapv:UnspecifiedMatching OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:PRKD2 semapv:UnspecifiedMatching OMIM:607074 PRKD2 skos:exactMatch ncbigene:25865 semapv:UnspecifiedMatching -OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:PDAP1 semapv:UnspecifiedMatching OMIM:607075 PDAP1 skos:exactMatch ncbigene:11333 semapv:UnspecifiedMatching -OMIM:607076 PI15 skos:exactMatch hgnc.symbol:PI15 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:PDAP1 semapv:UnspecifiedMatching OMIM:607076 PI15 skos:exactMatch ncbigene:51050 semapv:UnspecifiedMatching -OMIM:607077 PRKCN skos:exactMatch ncbigene:23683 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch hgnc.symbol:PI15 semapv:UnspecifiedMatching OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:PRKD3 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch ncbigene:23683 semapv:UnspecifiedMatching OMIM:607079 RHBG skos:exactMatch hgnc.symbol:RHBG semapv:UnspecifiedMatching OMIM:607079 RHBG skos:exactMatch ncbigene:57127 semapv:UnspecifiedMatching OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:TAPBPL semapv:UnspecifiedMatching OMIM:607081 TAPBPL skos:exactMatch ncbigene:55080 semapv:UnspecifiedMatching -OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:CACNA2D2 semapv:UnspecifiedMatching OMIM:607082 CACNA2D2 skos:exactMatch ncbigene:9254 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:CACNA2D2 semapv:UnspecifiedMatching OMIM:607083 NSD3 skos:exactMatch ncbigene:54904 semapv:UnspecifiedMatching OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:NSD3 semapv:UnspecifiedMatching OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:CCNDBP1 semapv:UnspecifiedMatching @@ -22835,69 +22839,69 @@ OMIM:607096 SLC22A12 skos:exactMatch ncbigene:116085 semapv:UnspecifiedMatching OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:SLC22A11 semapv:UnspecifiedMatching OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch ncbigene:55867 semapv:UnspecifiedMatching OMIM:607098 enolase alpha, lung-specific skos:exactMatch UMLS:C1846791 semapv:UnspecifiedMatching -OMIM:607099 HINFP skos:exactMatch hgnc.symbol:HINFP semapv:UnspecifiedMatching OMIM:607099 HINFP skos:exactMatch ncbigene:25988 semapv:UnspecifiedMatching -OMIM:607100 NPHP1 skos:exactMatch ncbigene:4867 semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch hgnc.symbol:HINFP semapv:UnspecifiedMatching OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:NPHP1 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch ncbigene:4867 semapv:UnspecifiedMatching OMIM:607102 WT1 skos:exactMatch hgnc.symbol:WT1 semapv:UnspecifiedMatching OMIM:607102 WT1 skos:exactMatch ncbigene:7490 semapv:UnspecifiedMatching -OMIM:607103 ATE1 skos:exactMatch ncbigene:11101 semapv:UnspecifiedMatching OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:ATE1 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch ncbigene:11101 semapv:UnspecifiedMatching OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:TNKS1BP1 semapv:UnspecifiedMatching OMIM:607104 TNKS1BP1 skos:exactMatch ncbigene:85456 semapv:UnspecifiedMatching -OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:NOX3 semapv:UnspecifiedMatching OMIM:607105 NOX3 skos:exactMatch ncbigene:50508 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:NOX3 semapv:UnspecifiedMatching OMIM:607106 HM13 skos:exactMatch hgnc.symbol:HM13 semapv:UnspecifiedMatching OMIM:607106 HM13 skos:exactMatch ncbigene:81502 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017070 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4017067 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017070 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4017657 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017066 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4310884 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:PAX6 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch ncbigene:5080 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017066 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4310841 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4017065 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4310884 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C3805349 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C3554721 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C1833798 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C1418276 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C3805349 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0155299 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C3805604 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C1833798 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C3554721 semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch UMLS:C1424917 semapv:UnspecifiedMatching OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:APOBEC3A semapv:UnspecifiedMatching OMIM:607109 APOBEC3A skos:exactMatch ncbigene:200315 semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch UMLS:C1424917 semapv:UnspecifiedMatching OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:APOBEC3B semapv:UnspecifiedMatching OMIM:607110 APOBEC3B skos:exactMatch ncbigene:9582 semapv:UnspecifiedMatching OMIM:607111 SPART skos:exactMatch hgnc.symbol:SPART semapv:UnspecifiedMatching OMIM:607111 SPART skos:exactMatch ncbigene:23111 semapv:UnspecifiedMatching OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:FBXO2 semapv:UnspecifiedMatching OMIM:607112 FBXO2 skos:exactMatch ncbigene:26232 semapv:UnspecifiedMatching -OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:APOBEC3G semapv:UnspecifiedMatching OMIM:607113 APOBEC3G skos:exactMatch ncbigene:60489 semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:APOBEC3G semapv:UnspecifiedMatching OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:ADAM33 semapv:UnspecifiedMatching OMIM:607114 ADAM33 skos:exactMatch ncbigene:80332 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch ncbigene:79648 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:MCPH1 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1417075 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:MCPH1 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch ncbigene:79648 semapv:UnspecifiedMatching OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:MRPL3 semapv:UnspecifiedMatching OMIM:607118 MRPL3 skos:exactMatch ncbigene:11222 semapv:UnspecifiedMatching -OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:RNF19A semapv:UnspecifiedMatching OMIM:607119 RNF19A skos:exactMatch ncbigene:25897 semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:RNF19A semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch UMLS:C1423830 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:PLCB1 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch ncbigene:23236 semapv:UnspecifiedMatching -OMIM:607122 PROKR1 skos:exactMatch ncbigene:10887 semapv:UnspecifiedMatching OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:PROKR1 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch ncbigene:10887 semapv:UnspecifiedMatching OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:PROKR2 semapv:UnspecifiedMatching OMIM:607123 PROKR2 skos:exactMatch ncbigene:128674 semapv:UnspecifiedMatching -OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:PLPP1 semapv:UnspecifiedMatching OMIM:607124 PLPP1 skos:exactMatch ncbigene:8611 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:PLPP1 semapv:UnspecifiedMatching OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:PLPP3 semapv:UnspecifiedMatching OMIM:607125 PLPP3 skos:exactMatch ncbigene:8613 semapv:UnspecifiedMatching OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:PLPP2 semapv:UnspecifiedMatching @@ -22908,175 +22912,175 @@ OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:TNKS2 semapv:UnspecifiedMatching OMIM:607128 TNKS2 skos:exactMatch ncbigene:80351 semapv:UnspecifiedMatching OMIM:607129 MICAL1 skos:exactMatch ncbigene:64780 semapv:UnspecifiedMatching OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:MICAL1 semapv:UnspecifiedMatching -OMIM:607130 RPTOR skos:exactMatch ncbigene:57521 semapv:UnspecifiedMatching OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:RPTOR semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch ncbigene:57521 semapv:UnspecifiedMatching OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching -OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:HNRNPDL semapv:UnspecifiedMatching OMIM:607137 HNRNPDL skos:exactMatch ncbigene:9987 semapv:UnspecifiedMatching -OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:CREB3L4 semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:HNRNPDL semapv:UnspecifiedMatching OMIM:607138 CREB3L4 skos:exactMatch ncbigene:148327 semapv:UnspecifiedMatching -OMIM:607139 FANCA skos:exactMatch ncbigene:2175 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:CREB3L4 semapv:UnspecifiedMatching OMIM:607139 FANCA skos:exactMatch hgnc.symbol:FANCA semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch ncbigene:2175 semapv:UnspecifiedMatching OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:GLIPR2 semapv:UnspecifiedMatching OMIM:607141 GLIPR2 skos:exactMatch ncbigene:152007 semapv:UnspecifiedMatching OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch ncbigene:79087 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:ALG12 semapv:UnspecifiedMatching OMIM:607144 ALG12 skos:exactMatch UMLS:C1426190 semapv:UnspecifiedMatching OMIM:607144 ALG12 skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:ALG12 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch ncbigene:79087 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch ncbigene:84062 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:DTNBP1 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching OMIM:607145 DTNBP1 skos:exactMatch UMLS:C1424906 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:DTNBP1 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch ncbigene:84062 semapv:UnspecifiedMatching OMIM:607146 PDZD3 skos:exactMatch hgnc.symbol:NHERF4 semapv:UnspecifiedMatching OMIM:607146 PDZD3 skos:exactMatch ncbigene:79849 semapv:UnspecifiedMatching -OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:NECTIN3 semapv:UnspecifiedMatching OMIM:607147 NECTIN3 skos:exactMatch ncbigene:25945 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:NECTIN3 semapv:UnspecifiedMatching OMIM:607149 REXO2 skos:exactMatch UMLS:C1846690 semapv:UnspecifiedMatching OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:REXO2 semapv:UnspecifiedMatching OMIM:607149 REXO2 skos:exactMatch ncbigene:25996 semapv:UnspecifiedMatching -OMIM:607150 FEV skos:exactMatch ncbigene:54738 semapv:UnspecifiedMatching OMIM:607150 FEV skos:exactMatch hgnc.symbol:FEV semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch ncbigene:54738 semapv:UnspecifiedMatching OMIM:607151 moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching OMIM:607151 moyamoya disease 2 skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching -OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching OMIM:607153 ITGB1BP1 skos:exactMatch ncbigene:9270 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:ST3GAL6 semapv:UnspecifiedMatching OMIM:607156 ST3GAL6 skos:exactMatch ncbigene:10402 semapv:UnspecifiedMatching -OMIM:607157 SIGLEC11 skos:exactMatch ncbigene:114132 semapv:UnspecifiedMatching OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:SIGLEC11 semapv:UnspecifiedMatching -OMIM:607158 VENTX skos:exactMatch hgnc.symbol:VENTX semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch ncbigene:114132 semapv:UnspecifiedMatching OMIM:607158 VENTX skos:exactMatch ncbigene:27287 semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch hgnc.symbol:VENTX semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch ncbigene:57178 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:ZMIZ1 semapv:UnspecifiedMatching OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C1823956 semapv:UnspecifiedMatching OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:ZMIZ1 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch ncbigene:57178 semapv:UnspecifiedMatching OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:ATP6V1F semapv:UnspecifiedMatching OMIM:607160 ATP6V1F skos:exactMatch ncbigene:9296 semapv:UnspecifiedMatching -OMIM:607162 ST8SIA5 skos:exactMatch ncbigene:29906 semapv:UnspecifiedMatching OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:ST8SIA5 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch ncbigene:29906 semapv:UnspecifiedMatching OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:LOXL3 semapv:UnspecifiedMatching OMIM:607163 LOXL3 skos:exactMatch ncbigene:84695 semapv:UnspecifiedMatching -OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:LBX2 semapv:UnspecifiedMatching OMIM:607164 LBX2 skos:exactMatch ncbigene:85474 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:LBX2 semapv:UnspecifiedMatching OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:SERINC3 semapv:UnspecifiedMatching OMIM:607165 SERINC3 skos:exactMatch ncbigene:10955 semapv:UnspecifiedMatching OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:TSGA10 semapv:UnspecifiedMatching OMIM:607166 TSGA10 skos:exactMatch ncbigene:80705 semapv:UnspecifiedMatching -OMIM:607167 DYNLRB1 skos:exactMatch ncbigene:83658 semapv:UnspecifiedMatching OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:DYNLRB1 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch ncbigene:83658 semapv:UnspecifiedMatching OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:DYNLRB2 semapv:UnspecifiedMatching OMIM:607168 DYNLRB2 skos:exactMatch ncbigene:83657 semapv:UnspecifiedMatching OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:PRSS16 semapv:UnspecifiedMatching OMIM:607169 PRSS16 skos:exactMatch ncbigene:10279 semapv:UnspecifiedMatching -OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:CRELD1 semapv:UnspecifiedMatching OMIM:607170 CRELD1 skos:exactMatch ncbigene:78987 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:CRELD1 semapv:UnspecifiedMatching OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:CRELD2 semapv:UnspecifiedMatching OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch ncbigene:79174 semapv:UnspecifiedMatching -OMIM:607172 STK11IP skos:exactMatch ncbigene:114790 semapv:UnspecifiedMatching OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:STK11IP semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch ncbigene:114790 semapv:UnspecifiedMatching OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:PSMD14 semapv:UnspecifiedMatching OMIM:607173 PSMD14 skos:exactMatch ncbigene:10213 semapv:UnspecifiedMatching OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:DUSP16 semapv:UnspecifiedMatching OMIM:607175 DUSP16 skos:exactMatch ncbigene:80824 semapv:UnspecifiedMatching -OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:CALN1 semapv:UnspecifiedMatching OMIM:607176 CALN1 skos:exactMatch ncbigene:83698 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:CALN1 semapv:UnspecifiedMatching OMIM:607177 IER5 skos:exactMatch hgnc.symbol:IER5 semapv:UnspecifiedMatching OMIM:607177 IER5 skos:exactMatch ncbigene:51278 semapv:UnspecifiedMatching OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:PDZK1IP1 semapv:UnspecifiedMatching OMIM:607178 PDZK1IP1 skos:exactMatch ncbigene:10158 semapv:UnspecifiedMatching -OMIM:607179 RBM12 skos:exactMatch ncbigene:10137 semapv:UnspecifiedMatching OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:RBM12 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch ncbigene:10137 semapv:UnspecifiedMatching OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:LRRC2 semapv:UnspecifiedMatching OMIM:607180 LRRC2 skos:exactMatch ncbigene:79442 semapv:UnspecifiedMatching -OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:RTP3 semapv:UnspecifiedMatching OMIM:607181 RTP3 skos:exactMatch ncbigene:83597 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:RTP3 semapv:UnspecifiedMatching OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:FYCO1 semapv:UnspecifiedMatching OMIM:607182 FYCO1 skos:exactMatch ncbigene:79443 semapv:UnspecifiedMatching -OMIM:607183 SEC24A skos:exactMatch ncbigene:10802 semapv:UnspecifiedMatching OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:SEC24A semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch ncbigene:10802 semapv:UnspecifiedMatching OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:SEC24B semapv:UnspecifiedMatching OMIM:607184 SEC24B skos:exactMatch ncbigene:10427 semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch UMLS:C1419929 semapv:UnspecifiedMatching OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:SEC24C semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch UMLS:C1419929 semapv:UnspecifiedMatching OMIM:607185 SEC24C skos:exactMatch ncbigene:9632 semapv:UnspecifiedMatching OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:SEC24D semapv:UnspecifiedMatching OMIM:607186 SEC24D skos:exactMatch ncbigene:9871 semapv:UnspecifiedMatching OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:ST3GAL1 semapv:UnspecifiedMatching OMIM:607187 ST3GAL1 skos:exactMatch ncbigene:6482 semapv:UnspecifiedMatching -OMIM:607188 ST3GAL2 skos:exactMatch ncbigene:6483 semapv:UnspecifiedMatching OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:ST3GAL2 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch ncbigene:6483 semapv:UnspecifiedMatching OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:RGS8 semapv:UnspecifiedMatching OMIM:607189 RGS8 skos:exactMatch ncbigene:85397 semapv:UnspecifiedMatching -OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:RGS13 semapv:UnspecifiedMatching OMIM:607190 RGS13 skos:exactMatch ncbigene:6003 semapv:UnspecifiedMatching -OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:RGS17 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:RGS13 semapv:UnspecifiedMatching OMIM:607191 RGS17 skos:exactMatch ncbigene:26575 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:RGS17 semapv:UnspecifiedMatching OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:RGS18 semapv:UnspecifiedMatching OMIM:607192 RGS18 skos:exactMatch ncbigene:64407 semapv:UnspecifiedMatching -OMIM:607193 RGS20 skos:exactMatch ncbigene:8601 semapv:UnspecifiedMatching OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:RGS20 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch ncbigene:8601 semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch UMLS:C1428235 semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:PTF1A semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch ncbigene:256297 semapv:UnspecifiedMatching -OMIM:607196 microcephaly, amish iia skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching OMIM:607196 microcephaly, amish iia skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching +OMIM:607196 microcephaly, amish iia skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:TDP1 semapv:UnspecifiedMatching OMIM:607198 TDP1 skos:exactMatch ncbigene:55775 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch ncbigene:3664 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:IRF6 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch UMLS:C1416474 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch UMLS:C4551864 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching -OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:IRF6 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch ncbigene:3664 semapv:UnspecifiedMatching OMIM:607201 HNRNPR skos:exactMatch ncbigene:10236 semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch UMLS:C1425082 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:SAV1 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch ncbigene:60485 semapv:UnspecifiedMatching -OMIM:607204 PUM1 skos:exactMatch ncbigene:9698 semapv:UnspecifiedMatching OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:PUM1 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch ncbigene:9698 semapv:UnspecifiedMatching OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:PUM2 semapv:UnspecifiedMatching OMIM:607205 PUM2 skos:exactMatch ncbigene:23369 semapv:UnspecifiedMatching -OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:ALOXE3 semapv:UnspecifiedMatching OMIM:607206 ALOXE3 skos:exactMatch ncbigene:59344 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:ALOXE3 semapv:UnspecifiedMatching OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:STUB1 semapv:UnspecifiedMatching OMIM:607207 STUB1 skos:exactMatch ncbigene:10273 semapv:UnspecifiedMatching -OMIM:607208 dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:607208 dravet syndrome skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch ncbigene:29775 semapv:UnspecifiedMatching +OMIM:607208 dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:607209 CARD10 skos:exactMatch UMLS:C1424267 semapv:UnspecifiedMatching OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:CARD10 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C1424244 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C4540578 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch ncbigene:29775 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch ncbigene:84433 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch UMLS:C4551967 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:CARD11 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch ncbigene:84433 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch UMLS:C1424286 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C4540578 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C1424244 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C0032027 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch UMLS:C1424286 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C4017074 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:CARD14 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch ncbigene:79092 semapv:UnspecifiedMatching -OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:CARD9 semapv:UnspecifiedMatching OMIM:607212 CARD9 skos:exactMatch ncbigene:64170 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:CARD9 semapv:UnspecifiedMatching OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:ORC6 semapv:UnspecifiedMatching OMIM:607213 ORC6 skos:exactMatch ncbigene:23594 semapv:UnspecifiedMatching -OMIM:607215 NPHP4 skos:exactMatch ncbigene:261734 semapv:UnspecifiedMatching OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:NPHP4 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch ncbigene:261734 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch UMLS:C1426154 semapv:UnspecifiedMatching OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:SDK1 semapv:UnspecifiedMatching OMIM:607216 SDK1 skos:exactMatch ncbigene:221935 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch UMLS:C1426154 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:SDK2 semapv:UnspecifiedMatching OMIM:607217 SDK2 skos:exactMatch ncbigene:54549 semapv:UnspecifiedMatching OMIM:607217 SDK2 skos:exactMatch UMLS:C1426155 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:SDK2 semapv:UnspecifiedMatching OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:IRF5 semapv:UnspecifiedMatching OMIM:607218 IRF5 skos:exactMatch ncbigene:3663 semapv:UnspecifiedMatching OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:CNTN5 semapv:UnspecifiedMatching @@ -23094,73 +23098,73 @@ OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch Orphane OMIM:607226 HDAC11 skos:exactMatch UMLS:C1426002 semapv:UnspecifiedMatching OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:HDAC11 semapv:UnspecifiedMatching OMIM:607226 HDAC11 skos:exactMatch ncbigene:79885 semapv:UnspecifiedMatching -OMIM:607227 MRGPRX1 skos:exactMatch ncbigene:259249 semapv:UnspecifiedMatching OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:MRGPRX1 semapv:UnspecifiedMatching -OMIM:607228 MRGPRX2 skos:exactMatch ncbigene:117194 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch ncbigene:259249 semapv:UnspecifiedMatching OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:MRGPRX2 semapv:UnspecifiedMatching -OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:MRGPRX3 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch ncbigene:117194 semapv:UnspecifiedMatching OMIM:607229 MRGPRX3 skos:exactMatch ncbigene:117195 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:MRGPRX3 semapv:UnspecifiedMatching OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:MRGPRX4 semapv:UnspecifiedMatching OMIM:607230 MRGPRX4 skos:exactMatch ncbigene:117196 semapv:UnspecifiedMatching OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:MRGPRD semapv:UnspecifiedMatching OMIM:607231 MRGPRD skos:exactMatch ncbigene:116512 semapv:UnspecifiedMatching OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:MRGPRE semapv:UnspecifiedMatching OMIM:607232 MRGPRE skos:exactMatch ncbigene:116534 semapv:UnspecifiedMatching -OMIM:607233 MRGPRF skos:exactMatch ncbigene:116535 semapv:UnspecifiedMatching OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:MRGPRF semapv:UnspecifiedMatching -OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:MRGPRG semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch ncbigene:116535 semapv:UnspecifiedMatching OMIM:607234 MRGPRG skos:exactMatch ncbigene:386746 semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:MRGPRG semapv:UnspecifiedMatching OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:MAS1L semapv:UnspecifiedMatching OMIM:607235 MAS1L skos:exactMatch ncbigene:116511 semapv:UnspecifiedMatching OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch Orphanet:157855 semapv:UnspecifiedMatching -OMIM:607237 TMIE skos:exactMatch ncbigene:259236 semapv:UnspecifiedMatching OMIM:607237 TMIE skos:exactMatch hgnc.symbol:TMIE semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch ncbigene:259236 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch ncbigene:150684 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch UMLS:C1427858 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:COMMD1 semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch ncbigene:387893 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch UMLS:C1822692 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:KMT5A semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch ncbigene:387893 semapv:UnspecifiedMatching OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:FDCSP semapv:UnspecifiedMatching OMIM:607241 FDCSP skos:exactMatch ncbigene:260436 semapv:UnspecifiedMatching OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:AP2A2 semapv:UnspecifiedMatching OMIM:607242 AP2A2 skos:exactMatch ncbigene:161 semapv:UnspecifiedMatching -OMIM:607243 AP4S1 skos:exactMatch ncbigene:11154 semapv:UnspecifiedMatching OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:AP4S1 semapv:UnspecifiedMatching -OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:AP4E1 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch ncbigene:11154 semapv:UnspecifiedMatching OMIM:607244 AP4E1 skos:exactMatch ncbigene:23431 semapv:UnspecifiedMatching -OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:AP4B1 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:AP4E1 semapv:UnspecifiedMatching OMIM:607245 AP4B1 skos:exactMatch ncbigene:10717 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:AP4B1 semapv:UnspecifiedMatching OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:AP3D1 semapv:UnspecifiedMatching OMIM:607246 AP3D1 skos:exactMatch ncbigene:8943 semapv:UnspecifiedMatching OMIM:607247 CHODL skos:exactMatch hgnc.symbol:CHODL semapv:UnspecifiedMatching OMIM:607247 CHODL skos:exactMatch ncbigene:140578 semapv:UnspecifiedMatching -OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:CATSPER2 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch UMLS:C1424897 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:TIMM22 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching OMIM:607251 TIMM22 skos:exactMatch ncbigene:29928 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:TIMM22 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch UMLS:C1424897 semapv:UnspecifiedMatching OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:APOL2 semapv:UnspecifiedMatching OMIM:607252 APOL2 skos:exactMatch ncbigene:23780 semapv:UnspecifiedMatching -OMIM:607253 APOL3 skos:exactMatch ncbigene:80833 semapv:UnspecifiedMatching OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:APOL3 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch ncbigene:80833 semapv:UnspecifiedMatching OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:APOL4 semapv:UnspecifiedMatching OMIM:607254 APOL4 skos:exactMatch ncbigene:80832 semapv:UnspecifiedMatching -OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:APOL5 semapv:UnspecifiedMatching OMIM:607255 APOL5 skos:exactMatch ncbigene:80831 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:APOL5 semapv:UnspecifiedMatching OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:APOL6 semapv:UnspecifiedMatching OMIM:607256 APOL6 skos:exactMatch ncbigene:80830 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch UMLS:C1424266 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch ncbigene:55553 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch UMLS:C1424266 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607260 placental protein 13-like protein skos:exactMatch ncbigene:56891 semapv:UnspecifiedMatching OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:LGALS14 semapv:UnspecifiedMatching -OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:EVC2 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch ncbigene:56891 semapv:UnspecifiedMatching OMIM:607261 EVC2 skos:exactMatch ncbigene:132884 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:EVC2 semapv:UnspecifiedMatching OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:EPN1 semapv:UnspecifiedMatching OMIM:607262 EPN1 skos:exactMatch ncbigene:29924 semapv:UnspecifiedMatching OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:EPN2 semapv:UnspecifiedMatching @@ -23169,227 +23173,227 @@ OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:EPN3 semapv:UnspecifiedMatching OMIM:607264 EPN3 skos:exactMatch ncbigene:55040 semapv:UnspecifiedMatching OMIM:607265 CLINT1 skos:exactMatch ncbigene:9685 semapv:UnspecifiedMatching OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:CLINT1 semapv:UnspecifiedMatching -OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:POLE3 semapv:UnspecifiedMatching OMIM:607267 POLE3 skos:exactMatch ncbigene:54107 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:POLE3 semapv:UnspecifiedMatching OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:CHRAC1 semapv:UnspecifiedMatching OMIM:607268 CHRAC1 skos:exactMatch ncbigene:54108 semapv:UnspecifiedMatching OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:POLE4 semapv:UnspecifiedMatching OMIM:607269 POLE4 skos:exactMatch ncbigene:56655 semapv:UnspecifiedMatching OMIM:607270 AUTS2 skos:exactMatch ncbigene:26053 semapv:UnspecifiedMatching OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:AUTS2 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:NDC80 semapv:UnspecifiedMatching OMIM:607272 NDC80 skos:exactMatch ncbigene:10403 semapv:UnspecifiedMatching OMIM:607272 NDC80 skos:exactMatch UMLS:C1424628 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:NDC80 semapv:UnspecifiedMatching -OMIM:607273 FLCN skos:exactMatch hgnc.symbol:FLCN semapv:UnspecifiedMatching OMIM:607273 FLCN skos:exactMatch ncbigene:201163 semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch hgnc.symbol:FLCN semapv:UnspecifiedMatching OMIM:607274 USP14 skos:exactMatch hgnc.symbol:USP14 semapv:UnspecifiedMatching OMIM:607274 USP14 skos:exactMatch ncbigene:9097 semapv:UnspecifiedMatching OMIM:607275 HOPX skos:exactMatch hgnc.symbol:HOPX semapv:UnspecifiedMatching OMIM:607275 HOPX skos:exactMatch ncbigene:84525 semapv:UnspecifiedMatching -OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:CNTN4 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch ncbigene:27257 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:LSM1 semapv:UnspecifiedMatching OMIM:607281 LSM1 skos:exactMatch UMLS:C1426957 semapv:UnspecifiedMatching OMIM:607281 LSM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:LSM1 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch ncbigene:27257 semapv:UnspecifiedMatching OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:LSM2 semapv:UnspecifiedMatching OMIM:607282 LSM2 skos:exactMatch ncbigene:57819 semapv:UnspecifiedMatching OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:LSM3 semapv:UnspecifiedMatching OMIM:607283 LSM3 skos:exactMatch ncbigene:27258 semapv:UnspecifiedMatching -OMIM:607284 LSM4 skos:exactMatch ncbigene:25804 semapv:UnspecifiedMatching OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:LSM4 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch ncbigene:25804 semapv:UnspecifiedMatching OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:LSM5 semapv:UnspecifiedMatching OMIM:607285 LSM5 skos:exactMatch ncbigene:23658 semapv:UnspecifiedMatching -OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:LSM6 semapv:UnspecifiedMatching OMIM:607286 LSM6 skos:exactMatch ncbigene:11157 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:LSM6 semapv:UnspecifiedMatching OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:LSM7 semapv:UnspecifiedMatching OMIM:607287 LSM7 skos:exactMatch ncbigene:51690 semapv:UnspecifiedMatching OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:LSM8 semapv:UnspecifiedMatching OMIM:607288 LSM8 skos:exactMatch ncbigene:51691 semapv:UnspecifiedMatching -OMIM:607289 BLOC1S5 skos:exactMatch ncbigene:63915 semapv:UnspecifiedMatching OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:BLOC1S5 semapv:UnspecifiedMatching -OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:SHISA5 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch ncbigene:63915 semapv:UnspecifiedMatching OMIM:607290 SHISA5 skos:exactMatch ncbigene:51246 semapv:UnspecifiedMatching -OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:SYNRG semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:SHISA5 semapv:UnspecifiedMatching OMIM:607291 SYNRG skos:exactMatch ncbigene:11276 semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:SYNRG semapv:UnspecifiedMatching OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:SEMA4A semapv:UnspecifiedMatching OMIM:607292 SEMA4A skos:exactMatch ncbigene:64218 semapv:UnspecifiedMatching OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:CLIC5 semapv:UnspecifiedMatching OMIM:607293 CLIC5 skos:exactMatch ncbigene:53405 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch ncbigene:60436 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch UMLS:C1423713 semapv:UnspecifiedMatching OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:TGIF2 semapv:UnspecifiedMatching -OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:MYO18B semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch UMLS:C1423713 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch ncbigene:60436 semapv:UnspecifiedMatching OMIM:607295 MYO18B skos:exactMatch ncbigene:84700 semapv:UnspecifiedMatching -OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:ATP6V1G1 semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:MYO18B semapv:UnspecifiedMatching OMIM:607296 ATP6V1G1 skos:exactMatch ncbigene:9550 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:ATP6V1G1 semapv:UnspecifiedMatching OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:NINJ2 semapv:UnspecifiedMatching OMIM:607297 NINJ2 skos:exactMatch ncbigene:4815 semapv:UnspecifiedMatching -OMIM:607298 GNG13 skos:exactMatch ncbigene:51764 semapv:UnspecifiedMatching OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:GNG13 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch ncbigene:51764 semapv:UnspecifiedMatching OMIM:607299 DNER skos:exactMatch hgnc.symbol:DNER semapv:UnspecifiedMatching OMIM:607299 DNER skos:exactMatch ncbigene:92737 semapv:UnspecifiedMatching OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:PRPF8 semapv:UnspecifiedMatching OMIM:607300 PRPF8 skos:exactMatch ncbigene:10594 semapv:UnspecifiedMatching -OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:PRPF3 semapv:UnspecifiedMatching OMIM:607301 PRPF3 skos:exactMatch ncbigene:9129 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:PRPF3 semapv:UnspecifiedMatching OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:MORF4L1 semapv:UnspecifiedMatching OMIM:607303 MORF4L1 skos:exactMatch ncbigene:10933 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:MDS2 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch ncbigene:259283 semapv:UnspecifiedMatching -OMIM:607306 SRD5A2 skos:exactMatch ncbigene:6716 semapv:UnspecifiedMatching OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:SRD5A2 semapv:UnspecifiedMatching -OMIM:607307 FILIP1 skos:exactMatch ncbigene:27145 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch ncbigene:6716 semapv:UnspecifiedMatching OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:FILIP1 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch ncbigene:27145 semapv:UnspecifiedMatching OMIM:607308 mammographic density skos:exactMatch UMLS:C1268717 semapv:UnspecifiedMatching -OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:AP1M2 semapv:UnspecifiedMatching OMIM:607309 AP1M2 skos:exactMatch ncbigene:10053 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:AP1M2 semapv:UnspecifiedMatching OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:ADAM7 semapv:UnspecifiedMatching OMIM:607310 ADAM7 skos:exactMatch ncbigene:8756 semapv:UnspecifiedMatching OMIM:607311 PGR skos:exactMatch hgnc.symbol:PGR semapv:UnspecifiedMatching OMIM:607311 PGR skos:exactMatch ncbigene:5241 semapv:UnspecifiedMatching OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:ZC3HAV1 semapv:UnspecifiedMatching OMIM:607312 ZC3HAV1 skos:exactMatch ncbigene:56829 semapv:UnspecifiedMatching -OMIM:607314 CABP2 skos:exactMatch ncbigene:51475 semapv:UnspecifiedMatching OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:CABP2 semapv:UnspecifiedMatching -OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:CABP5 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch ncbigene:51475 semapv:UnspecifiedMatching OMIM:607315 CABP5 skos:exactMatch ncbigene:56344 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:CABP5 semapv:UnspecifiedMatching OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:LOXL4 semapv:UnspecifiedMatching OMIM:607318 LOXL4 skos:exactMatch ncbigene:84171 semapv:UnspecifiedMatching OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:SFMBT1 semapv:UnspecifiedMatching OMIM:607319 SFMBT1 skos:exactMatch ncbigene:51460 semapv:UnspecifiedMatching -OMIM:607320 RASGRP4 skos:exactMatch ncbigene:115727 semapv:UnspecifiedMatching OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:RASGRP4 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch ncbigene:115727 semapv:UnspecifiedMatching OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:ATP1A4 semapv:UnspecifiedMatching OMIM:607321 ATP1A4 skos:exactMatch ncbigene:480 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching -OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:DOCK9 semapv:UnspecifiedMatching -OMIM:607327 MBNL2 skos:exactMatch ncbigene:10150 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:MBNL2 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch ncbigene:10150 semapv:UnspecifiedMatching OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:HEXIM1 semapv:UnspecifiedMatching OMIM:607328 HEXIM1 skos:exactMatch ncbigene:10614 semapv:UnspecifiedMatching OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching -OMIM:607331 RP9 skos:exactMatch hgnc.symbol:RP9 semapv:UnspecifiedMatching OMIM:607331 RP9 skos:exactMatch ncbigene:6100 semapv:UnspecifiedMatching -OMIM:607332 NREP skos:exactMatch ncbigene:9315 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch hgnc.symbol:RP9 semapv:UnspecifiedMatching OMIM:607332 NREP skos:exactMatch hgnc.symbol:NREP semapv:UnspecifiedMatching -OMIM:607333 STRADB skos:exactMatch ncbigene:55437 semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch ncbigene:9315 semapv:UnspecifiedMatching OMIM:607333 STRADB skos:exactMatch hgnc.symbol:STRADB semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch ncbigene:55437 semapv:UnspecifiedMatching OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:TRAK2 semapv:UnspecifiedMatching OMIM:607334 TRAK2 skos:exactMatch ncbigene:66008 semapv:UnspecifiedMatching OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:BEST2 semapv:UnspecifiedMatching OMIM:607335 BEST2 skos:exactMatch ncbigene:54831 semapv:UnspecifiedMatching -OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:BEST4 semapv:UnspecifiedMatching OMIM:607336 BEST4 skos:exactMatch ncbigene:266675 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:BEST4 semapv:UnspecifiedMatching OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:BEST3 semapv:UnspecifiedMatching OMIM:607337 BEST3 skos:exactMatch ncbigene:144453 semapv:UnspecifiedMatching OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:LEPROTL1 semapv:UnspecifiedMatching OMIM:607338 LEPROTL1 skos:exactMatch ncbigene:23484 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch ncbigene:9568 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:GABBR2 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:GABBR2 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C1846414 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:CPEB1 semapv:UnspecifiedMatching OMIM:607342 CPEB1 skos:exactMatch ncbigene:64506 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch ncbigene:57167 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:SALL4 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1423836 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:TUBD1 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:SALL4 semapv:UnspecifiedMatching OMIM:607344 TUBD1 skos:exactMatch ncbigene:51174 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:TUBD1 semapv:UnspecifiedMatching OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:TUBE1 semapv:UnspecifiedMatching OMIM:607345 TUBE1 skos:exactMatch ncbigene:51175 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch ncbigene:80216 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:ALPK1 semapv:UnspecifiedMatching OMIM:607347 ALPK1 skos:exactMatch UMLS:C1538265 semapv:UnspecifiedMatching OMIM:607347 ALPK1 skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:ALPK1 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch ncbigene:80216 semapv:UnspecifiedMatching OMIM:607348 HES5 skos:exactMatch UMLS:C1426393 semapv:UnspecifiedMatching OMIM:607348 HES5 skos:exactMatch hgnc.symbol:HES5 semapv:UnspecifiedMatching OMIM:607348 HES5 skos:exactMatch ncbigene:388585 semapv:UnspecifiedMatching -OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:TLN2 semapv:UnspecifiedMatching OMIM:607349 TLN2 skos:exactMatch ncbigene:83660 semapv:UnspecifiedMatching -OMIM:607350 KIF13B skos:exactMatch ncbigene:23303 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:TLN2 semapv:UnspecifiedMatching OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:KIF13B semapv:UnspecifiedMatching -OMIM:607351 RHOBTB1 skos:exactMatch ncbigene:9886 semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch ncbigene:23303 semapv:UnspecifiedMatching OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:RHOBTB1 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch ncbigene:9886 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C1425762 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:RHOBTB2 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch ncbigene:23221 semapv:UnspecifiedMatching -OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching OMIM:607353 RHOBTB3 skos:exactMatch ncbigene:22836 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:AGO3 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch ncbigene:192669 semapv:UnspecifiedMatching -OMIM:607356 AGO4 skos:exactMatch ncbigene:192670 semapv:UnspecifiedMatching OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:AGO4 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch ncbigene:192670 semapv:UnspecifiedMatching OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:KCNQ5 semapv:UnspecifiedMatching OMIM:607357 KCNQ5 skos:exactMatch ncbigene:56479 semapv:UnspecifiedMatching OMIM:607358 AIRE skos:exactMatch hgnc.symbol:AIRE semapv:UnspecifiedMatching OMIM:607358 AIRE skos:exactMatch ncbigene:326 semapv:UnspecifiedMatching -OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:CCAR2 semapv:UnspecifiedMatching OMIM:607359 CCAR2 skos:exactMatch ncbigene:57805 semapv:UnspecifiedMatching -OMIM:607360 LACRT skos:exactMatch ncbigene:90070 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:CCAR2 semapv:UnspecifiedMatching OMIM:607360 LACRT skos:exactMatch hgnc.symbol:LACRT semapv:UnspecifiedMatching -OMIM:607362 RGMA skos:exactMatch ncbigene:56963 semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch ncbigene:90070 semapv:UnspecifiedMatching OMIM:607362 RGMA skos:exactMatch hgnc.symbol:RGMA semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch ncbigene:56963 semapv:UnspecifiedMatching OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:KNTC1 semapv:UnspecifiedMatching OMIM:607363 KNTC1 skos:exactMatch ncbigene:9735 semapv:UnspecifiedMatching -OMIM:607365 LIPH skos:exactMatch hgnc.symbol:LIPH semapv:UnspecifiedMatching OMIM:607365 LIPH skos:exactMatch ncbigene:200879 semapv:UnspecifiedMatching -OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:KCNK12 semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch hgnc.symbol:LIPH semapv:UnspecifiedMatching OMIM:607366 KCNK12 skos:exactMatch ncbigene:56660 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:KCNK12 semapv:UnspecifiedMatching OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:KCNK13 semapv:UnspecifiedMatching OMIM:607367 KCNK13 skos:exactMatch ncbigene:56659 semapv:UnspecifiedMatching -OMIM:607368 KCNK15 skos:exactMatch ncbigene:60598 semapv:UnspecifiedMatching OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:KCNK15 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch ncbigene:60598 semapv:UnspecifiedMatching OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:KCNK16 semapv:UnspecifiedMatching OMIM:607369 KCNK16 skos:exactMatch ncbigene:83795 semapv:UnspecifiedMatching OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:KCNK17 semapv:UnspecifiedMatching OMIM:607370 KCNK17 skos:exactMatch ncbigene:89822 semapv:UnspecifiedMatching -OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching OMIM:607372 MED15 skos:exactMatch ncbigene:51586 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:THAP12 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch ncbigene:5612 semapv:UnspecifiedMatching -OMIM:607375 DOT1L skos:exactMatch ncbigene:84444 semapv:UnspecifiedMatching OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:DOT1L semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch ncbigene:84444 semapv:UnspecifiedMatching OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:DCTN2 semapv:UnspecifiedMatching OMIM:607376 DCTN2 skos:exactMatch ncbigene:10540 semapv:UnspecifiedMatching -OMIM:607377 LENEP skos:exactMatch hgnc.symbol:LENEP semapv:UnspecifiedMatching OMIM:607377 LENEP skos:exactMatch ncbigene:55891 semapv:UnspecifiedMatching -OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:SERBP1 semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch hgnc.symbol:LENEP semapv:UnspecifiedMatching OMIM:607378 SERBP1 skos:exactMatch ncbigene:26135 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:SERBP1 semapv:UnspecifiedMatching OMIM:607379 NF2 skos:exactMatch hgnc.symbol:NF2 semapv:UnspecifiedMatching OMIM:607379 NF2 skos:exactMatch ncbigene:4771 semapv:UnspecifiedMatching -OMIM:607380 TRAF3IP1 skos:exactMatch ncbigene:26146 semapv:UnspecifiedMatching OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:TRAF3IP1 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch ncbigene:26146 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch UMLS:C1428182 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:TIMM50 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch ncbigene:92609 semapv:UnspecifiedMatching -OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:CLIP3 semapv:UnspecifiedMatching OMIM:607382 CLIP3 skos:exactMatch ncbigene:25999 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch ncbigene:26517 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:CLIP3 semapv:UnspecifiedMatching OMIM:607383 TIMM13 skos:exactMatch UMLS:C1420739 semapv:UnspecifiedMatching OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:TIMM13 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch ncbigene:26520 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch ncbigene:26517 semapv:UnspecifiedMatching OMIM:607384 TIMM9 skos:exactMatch UMLS:C1420742 semapv:UnspecifiedMatching OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:TIMM9 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch ncbigene:26520 semapv:UnspecifiedMatching OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:MGAT4C semapv:UnspecifiedMatching OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch ncbigene:25834 semapv:UnspecifiedMatching -OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:IFT172 semapv:UnspecifiedMatching OMIM:607386 IFT172 skos:exactMatch ncbigene:26160 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:IFT172 semapv:UnspecifiedMatching OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:DCTN3 semapv:UnspecifiedMatching OMIM:607387 DCTN3 skos:exactMatch ncbigene:11258 semapv:UnspecifiedMatching OMIM:607388 TIMM10B skos:exactMatch UMLS:C1414871 semapv:UnspecifiedMatching @@ -23397,145 +23401,145 @@ OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:TIMM10B semapv:UnspecifiedMatchi OMIM:607388 TIMM10B skos:exactMatch ncbigene:26515 semapv:UnspecifiedMatching OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:SSBP2 semapv:UnspecifiedMatching OMIM:607389 SSBP2 skos:exactMatch ncbigene:23635 semapv:UnspecifiedMatching -OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:SSBP3 semapv:UnspecifiedMatching OMIM:607390 SSBP3 skos:exactMatch ncbigene:23648 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:SSBP3 semapv:UnspecifiedMatching OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:SSBP4 semapv:UnspecifiedMatching OMIM:607391 SSBP4 skos:exactMatch ncbigene:170463 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:WWTR1 semapv:UnspecifiedMatching OMIM:607392 WWTR1 skos:exactMatch UMLS:C1538117 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:WWTR1 semapv:UnspecifiedMatching OMIM:607392 WWTR1 skos:exactMatch ncbigene:25937 semapv:UnspecifiedMatching -OMIM:607393 CDC73 skos:exactMatch ncbigene:79577 semapv:UnspecifiedMatching OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:CDC73 semapv:UnspecifiedMatching -OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:POU2F3 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch ncbigene:79577 semapv:UnspecifiedMatching OMIM:607394 POU2F3 skos:exactMatch ncbigene:25833 semapv:UnspecifiedMatching -OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:TOB2 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:POU2F3 semapv:UnspecifiedMatching OMIM:607396 TOB2 skos:exactMatch ncbigene:10766 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:TOB2 semapv:UnspecifiedMatching OMIM:607397 MC2R skos:exactMatch hgnc.symbol:MC2R semapv:UnspecifiedMatching OMIM:607397 MC2R skos:exactMatch ncbigene:4158 semapv:UnspecifiedMatching OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:MCOLN2 semapv:UnspecifiedMatching OMIM:607399 MCOLN2 skos:exactMatch ncbigene:255231 semapv:UnspecifiedMatching -OMIM:607400 MCOLN3 skos:exactMatch ncbigene:55283 semapv:UnspecifiedMatching OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:MCOLN3 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch UMLS:C1425474 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch ncbigene:55283 semapv:UnspecifiedMatching OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:IFNL2 semapv:UnspecifiedMatching OMIM:607401 IFNL2 skos:exactMatch ncbigene:282616 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch UMLS:C1425474 semapv:UnspecifiedMatching OMIM:607402 IFNL3 skos:exactMatch UMLS:C1425475 semapv:UnspecifiedMatching OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:IFNL3 semapv:UnspecifiedMatching OMIM:607402 IFNL3 skos:exactMatch ncbigene:282617 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch ncbigene:282618 semapv:UnspecifiedMatching OMIM:607403 IFNL1 skos:exactMatch UMLS:C1425473 semapv:UnspecifiedMatching OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:IFNL1 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch ncbigene:163702 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch UMLS:C1425622 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch ncbigene:282618 semapv:UnspecifiedMatching OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:IFNLR1 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch UMLS:C1425622 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch ncbigene:163702 semapv:UnspecifiedMatching OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:TAAR5 semapv:UnspecifiedMatching OMIM:607405 TAAR5 skos:exactMatch ncbigene:9038 semapv:UnspecifiedMatching -OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:STBD1 semapv:UnspecifiedMatching OMIM:607406 STBD1 skos:exactMatch ncbigene:8987 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:STBD1 semapv:UnspecifiedMatching OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:EBF3 semapv:UnspecifiedMatching OMIM:607407 EBF3 skos:exactMatch ncbigene:253738 semapv:UnspecifiedMatching -OMIM:607408 DAOA skos:exactMatch ncbigene:267012 semapv:UnspecifiedMatching OMIM:607408 DAOA skos:exactMatch hgnc.symbol:DAOA semapv:UnspecifiedMatching -OMIM:607409 NRN1 skos:exactMatch ncbigene:51299 semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch ncbigene:267012 semapv:UnspecifiedMatching OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:NRN1 semapv:UnspecifiedMatching -OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch ncbigene:51299 semapv:UnspecifiedMatching OMIM:607410 DMBX1 skos:exactMatch ncbigene:127343 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:BPIFA1 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch ncbigene:51297 semapv:UnspecifiedMatching OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:FEZF2 semapv:UnspecifiedMatching OMIM:607414 FEZF2 skos:exactMatch ncbigene:55079 semapv:UnspecifiedMatching -OMIM:607415 DAOAAS skos:exactMatch ncbigene:282706 semapv:UnspecifiedMatching OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:DAOA-AS1 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch ncbigene:10752 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch UMLS:C1413393 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch ncbigene:282706 semapv:UnspecifiedMatching OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:CHL1 semapv:UnspecifiedMatching -OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:GCC1 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch UMLS:C1413393 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch ncbigene:10752 semapv:UnspecifiedMatching OMIM:607418 GCC1 skos:exactMatch ncbigene:79571 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:GCC1 semapv:UnspecifiedMatching OMIM:607419 GEMIN7 skos:exactMatch UMLS:C1426635 semapv:UnspecifiedMatching OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:GEMIN7 semapv:UnspecifiedMatching OMIM:607419 GEMIN7 skos:exactMatch ncbigene:79760 semapv:UnspecifiedMatching OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:GABARAPL1 semapv:UnspecifiedMatching OMIM:607420 GABARAPL1 skos:exactMatch ncbigene:23710 semapv:UnspecifiedMatching -OMIM:607421 NME8 skos:exactMatch ncbigene:51314 semapv:UnspecifiedMatching OMIM:607421 NME8 skos:exactMatch hgnc.symbol:NME8 semapv:UnspecifiedMatching -OMIM:607422 GCAT skos:exactMatch hgnc.symbol:GCAT semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch ncbigene:51314 semapv:UnspecifiedMatching OMIM:607422 GCAT skos:exactMatch ncbigene:23464 semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch hgnc.symbol:GCAT semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C1418752 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:POMT1 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch ncbigene:10585 semapv:UnspecifiedMatching -OMIM:607424 GLYAT skos:exactMatch ncbigene:10249 semapv:UnspecifiedMatching OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:GLYAT semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch ncbigene:10249 semapv:UnspecifiedMatching OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:GJD3 semapv:UnspecifiedMatching OMIM:607425 GJD3 skos:exactMatch ncbigene:125111 semapv:UnspecifiedMatching -OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching +OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:ENOSF1 semapv:UnspecifiedMatching OMIM:607427 ENOSF1 skos:exactMatch ncbigene:55556 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:KIRREL1 semapv:UnspecifiedMatching OMIM:607428 KIRREL1 skos:exactMatch UMLS:C1423691 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:KIRREL1 semapv:UnspecifiedMatching OMIM:607428 KIRREL1 skos:exactMatch ncbigene:55243 semapv:UnspecifiedMatching OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:PDSS1 semapv:UnspecifiedMatching OMIM:607429 PDSS1 skos:exactMatch ncbigene:23590 semapv:UnspecifiedMatching -OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:DAZAP1 semapv:UnspecifiedMatching OMIM:607430 DAZAP1 skos:exactMatch ncbigene:26528 semapv:UnspecifiedMatching -OMIM:607431 DAZAP2 skos:exactMatch ncbigene:9802 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:DAZAP1 semapv:UnspecifiedMatching OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:DAZAP2 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch ncbigene:9802 semapv:UnspecifiedMatching OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C0431375 semapv:UnspecifiedMatching OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C1848201 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch ncbigene:11344 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch UMLS:C1843915 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:TWF2 semapv:UnspecifiedMatching -OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:GTPBP2 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch UMLS:C1843915 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch ncbigene:11344 semapv:UnspecifiedMatching OMIM:607434 GTPBP2 skos:exactMatch ncbigene:54676 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:GTPBP2 semapv:UnspecifiedMatching OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:ERAL1 semapv:UnspecifiedMatching OMIM:607435 ERAL1 skos:exactMatch ncbigene:26284 semapv:UnspecifiedMatching OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:PAPOLB semapv:UnspecifiedMatching OMIM:607436 PAPOLB skos:exactMatch ncbigene:56903 semapv:UnspecifiedMatching -OMIM:607437 GPRC5D skos:exactMatch ncbigene:55507 semapv:UnspecifiedMatching OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:GPRC5D semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch ncbigene:55507 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C1426379 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:POMT2 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch ncbigene:29954 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch hgnc.symbol:FKTN semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch ncbigene:2218 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch hgnc.symbol:FKTN semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch ncbigene:2218 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C1414558 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching -OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:EPSTI1 semapv:UnspecifiedMatching OMIM:607441 EPSTI1 skos:exactMatch ncbigene:94240 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:EPSTI1 semapv:UnspecifiedMatching OMIM:607442 EML4 skos:exactMatch hgnc.symbol:EML4 semapv:UnspecifiedMatching OMIM:607442 EML4 skos:exactMatch ncbigene:27436 semapv:UnspecifiedMatching OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:ELSPBP1 semapv:UnspecifiedMatching OMIM:607443 ELSPBP1 skos:exactMatch ncbigene:64100 semapv:UnspecifiedMatching -OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching OMIM:607444 SBDS skos:exactMatch hgnc.symbol:SBDS semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:EIF4ENIF1 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch ncbigene:56478 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:NPFFR1 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch ncbigene:64106 semapv:UnspecifiedMatching -OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:NPFFR2 semapv:UnspecifiedMatching OMIM:607449 NPFFR2 skos:exactMatch ncbigene:10886 semapv:UnspecifiedMatching -OMIM:607451 GMEB2 skos:exactMatch ncbigene:26205 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:NPFFR2 semapv:UnspecifiedMatching OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:GMEB2 semapv:UnspecifiedMatching -OMIM:607452 GABARAPL2 skos:exactMatch ncbigene:11345 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch ncbigene:26205 semapv:UnspecifiedMatching OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:GABARAPL2 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch ncbigene:11345 semapv:UnspecifiedMatching OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:ZFAND3 semapv:UnspecifiedMatching OMIM:607455 ZFAND3 skos:exactMatch ncbigene:60685 semapv:UnspecifiedMatching OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:UTP4 semapv:UnspecifiedMatching OMIM:607456 UTP4 skos:exactMatch ncbigene:84916 semapv:UnspecifiedMatching -OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching OMIM:607460 PLA1A skos:exactMatch ncbigene:51365 semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching OMIM:607461 DYM skos:exactMatch hgnc.symbol:DYM semapv:UnspecifiedMatching OMIM:607461 DYM skos:exactMatch ncbigene:54808 semapv:UnspecifiedMatching OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:ATN1 semapv:UnspecifiedMatching @@ -23544,64 +23548,64 @@ OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:PPP1R13L semapv:UnspecifiedMatc OMIM:607463 PPP1R13L skos:exactMatch ncbigene:10848 semapv:UnspecifiedMatching OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:CDAN1 semapv:UnspecifiedMatching OMIM:607465 CDAN1 skos:exactMatch ncbigene:146059 semapv:UnspecifiedMatching -OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:RAB2B semapv:UnspecifiedMatching OMIM:607466 RAB2B skos:exactMatch ncbigene:84932 semapv:UnspecifiedMatching -OMIM:607467 CLECL1 skos:exactMatch ncbigene:160365 semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:RAB2B semapv:UnspecifiedMatching OMIM:607467 CLECL1 skos:exactMatch hgnc.symbol:CLECL1P semapv:UnspecifiedMatching +OMIM:607467 CLECL1 skos:exactMatch ncbigene:160365 semapv:UnspecifiedMatching OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:GPR88 semapv:UnspecifiedMatching OMIM:607468 GPR88 skos:exactMatch ncbigene:54112 semapv:UnspecifiedMatching OMIM:607469 NAAA skos:exactMatch hgnc.symbol:NAAA semapv:UnspecifiedMatching OMIM:607469 NAAA skos:exactMatch ncbigene:27163 semapv:UnspecifiedMatching -OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:BCAS3 semapv:UnspecifiedMatching OMIM:607470 BCAS3 skos:exactMatch ncbigene:54828 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:BCAS3 semapv:UnspecifiedMatching OMIM:607471 BCAS4 skos:exactMatch ncbigene:55653 semapv:UnspecifiedMatching OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:BCAS4 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch ncbigene:10730 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:YME1L1 semapv:UnspecifiedMatching OMIM:607472 YME1L1 skos:exactMatch UMLS:C1421554 semapv:UnspecifiedMatching OMIM:607472 YME1L1 skos:exactMatch UMLS:C4310628 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:YME1L1 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch ncbigene:10730 semapv:UnspecifiedMatching OMIM:607474 HGD skos:exactMatch hgnc.symbol:HGD semapv:UnspecifiedMatching OMIM:607474 HGD skos:exactMatch ncbigene:3081 semapv:UnspecifiedMatching OMIM:607475 bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching OMIM:607475 bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching -OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:GTSE1 semapv:UnspecifiedMatching OMIM:607477 GTSE1 skos:exactMatch ncbigene:51512 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:GTSE1 semapv:UnspecifiedMatching OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:TPH2 semapv:UnspecifiedMatching OMIM:607478 TPH2 skos:exactMatch ncbigene:121278 semapv:UnspecifiedMatching OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:APCDD1 semapv:UnspecifiedMatching OMIM:607479 APCDD1 skos:exactMatch ncbigene:147495 semapv:UnspecifiedMatching -OMIM:607481 MMAA skos:exactMatch ncbigene:166785 semapv:UnspecifiedMatching OMIM:607481 MMAA skos:exactMatch hgnc.symbol:MMAA semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch ncbigene:166785 semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching -OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch ncbigene:23113 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch ncbigene:197257 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch hgnc.symbol:LDHD semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching OMIM:607490 LDHD skos:exactMatch UMLS:C1426348 semapv:UnspecifiedMatching OMIM:607490 LDHD skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch hgnc.symbol:LDHD semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch ncbigene:197257 semapv:UnspecifiedMatching OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:POFUT1 semapv:UnspecifiedMatching OMIM:607491 POFUT1 skos:exactMatch ncbigene:23509 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch ncbigene:55690 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:PACS1 semapv:UnspecifiedMatching OMIM:607492 PACS1 skos:exactMatch UMLS:C1538563 semapv:UnspecifiedMatching OMIM:607492 PACS1 skos:exactMatch UMLS:C3554343 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:PACS1 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch ncbigene:55690 semapv:UnspecifiedMatching OMIM:607493 ING3 skos:exactMatch hgnc.symbol:ING3 semapv:UnspecifiedMatching OMIM:607493 ING3 skos:exactMatch ncbigene:54556 semapv:UnspecifiedMatching -OMIM:607494 INPP4B skos:exactMatch ncbigene:8821 semapv:UnspecifiedMatching OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:INPP4B semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch ncbigene:8821 semapv:UnspecifiedMatching OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:NOSTRIN semapv:UnspecifiedMatching OMIM:607496 NOSTRIN skos:exactMatch ncbigene:115677 semapv:UnspecifiedMatching OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:B3GAT2 semapv:UnspecifiedMatching OMIM:607497 B3GAT2 skos:exactMatch ncbigene:135152 semapv:UnspecifiedMatching OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch ncbigene:84976 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:DISP1 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch ncbigene:85455 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching OMIM:607503 DISP2 skos:exactMatch UMLS:C1426352 semapv:UnspecifiedMatching OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:DISP2 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch ncbigene:85455 semapv:UnspecifiedMatching OMIM:607505 PASK skos:exactMatch hgnc.symbol:PASK semapv:UnspecifiedMatching OMIM:607505 PASK skos:exactMatch ncbigene:23178 semapv:UnspecifiedMatching OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:ADAMTS14 semapv:UnspecifiedMatching @@ -23610,90 +23614,90 @@ OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:ADAMTS15 semapv:UnspecifiedMatc OMIM:607509 ADAMTS15 skos:exactMatch ncbigene:170689 semapv:UnspecifiedMatching OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:ADAMTS16 semapv:UnspecifiedMatching OMIM:607510 ADAMTS16 skos:exactMatch ncbigene:170690 semapv:UnspecifiedMatching -OMIM:607511 ADAMTS17 skos:exactMatch ncbigene:170691 semapv:UnspecifiedMatching OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:ADAMTS17 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch ncbigene:170691 semapv:UnspecifiedMatching OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:ADAMTS18 semapv:UnspecifiedMatching OMIM:607512 ADAMTS18 skos:exactMatch ncbigene:170692 semapv:UnspecifiedMatching -OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:ADAMTS19 semapv:UnspecifiedMatching OMIM:607513 ADAMTS19 skos:exactMatch ncbigene:171019 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:ADAMTS19 semapv:UnspecifiedMatching OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:PLAC8 semapv:UnspecifiedMatching OMIM:607515 PLAC8 skos:exactMatch ncbigene:51316 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching -OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:LILRA4 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch ncbigene:23547 semapv:UnspecifiedMatching -OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:LRRC25 semapv:UnspecifiedMatching OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch ncbigene:126364 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:LRRC25 semapv:UnspecifiedMatching OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:PARP4 semapv:UnspecifiedMatching OMIM:607519 PARP4 skos:exactMatch ncbigene:143 semapv:UnspecifiedMatching OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:ZAR1 semapv:UnspecifiedMatching OMIM:607520 ZAR1 skos:exactMatch ncbigene:326340 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch ncbigene:11234 semapv:UnspecifiedMatching OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:HPS5 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch ncbigene:11234 semapv:UnspecifiedMatching OMIM:607521 HPS5 skos:exactMatch UMLS:C1424692 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch UMLS:C1425796 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:HPS6 semapv:UnspecifiedMatching OMIM:607522 HPS6 skos:exactMatch ncbigene:79803 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch UMLS:C1425796 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:RNF39 semapv:UnspecifiedMatching OMIM:607524 RNF39 skos:exactMatch ncbigene:80352 semapv:UnspecifiedMatching -OMIM:607525 POLR1H skos:exactMatch ncbigene:30834 semapv:UnspecifiedMatching OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:POLR1H semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch ncbigene:30834 semapv:UnspecifiedMatching OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:RPL27 semapv:UnspecifiedMatching OMIM:607526 RPL27 skos:exactMatch ncbigene:6155 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch UMLS:C1419599 semapv:UnspecifiedMatching OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:PTBP3 semapv:UnspecifiedMatching OMIM:607527 PTBP3 skos:exactMatch ncbigene:9991 semapv:UnspecifiedMatching -OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:ROBO4 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch UMLS:C1419599 semapv:UnspecifiedMatching OMIM:607528 ROBO4 skos:exactMatch ncbigene:54538 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:ROBO4 semapv:UnspecifiedMatching OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:SARS1 semapv:UnspecifiedMatching OMIM:607529 SARS1 skos:exactMatch ncbigene:6301 semapv:UnspecifiedMatching OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:HOXA11-AS semapv:UnspecifiedMatching OMIM:607530 HOXA11AS skos:exactMatch ncbigene:221883 semapv:UnspecifiedMatching -OMIM:607531 KLF12 skos:exactMatch ncbigene:11278 semapv:UnspecifiedMatching OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:KLF12 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch UMLS:C1539032 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch ncbigene:11278 semapv:UnspecifiedMatching OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:PIBF1 semapv:UnspecifiedMatching OMIM:607532 PIBF1 skos:exactMatch ncbigene:10464 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch UMLS:C1539032 semapv:UnspecifiedMatching OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:DIS3 semapv:UnspecifiedMatching OMIM:607533 DIS3 skos:exactMatch ncbigene:22894 semapv:UnspecifiedMatching OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:YAF2 semapv:UnspecifiedMatching OMIM:607534 YAF2 skos:exactMatch ncbigene:10138 semapv:UnspecifiedMatching -OMIM:607535 RYBP skos:exactMatch ncbigene:23429 semapv:UnspecifiedMatching OMIM:607535 RYBP skos:exactMatch hgnc.symbol:RYBP semapv:UnspecifiedMatching -OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:CRTC1 semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch ncbigene:23429 semapv:UnspecifiedMatching OMIM:607536 CRTC1 skos:exactMatch ncbigene:23373 semapv:UnspecifiedMatching -OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:MAML2 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:CRTC1 semapv:UnspecifiedMatching OMIM:607537 MAML2 skos:exactMatch ncbigene:84441 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:MAML2 semapv:UnspecifiedMatching OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:NDEL1 semapv:UnspecifiedMatching OMIM:607538 NDEL1 skos:exactMatch ncbigene:81565 semapv:UnspecifiedMatching OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching -OMIM:607542 KCNQ1 skos:exactMatch ncbigene:3784 semapv:UnspecifiedMatching OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:KCNQ1 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch UMLS:C1423677 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:LRPPRC semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch ncbigene:3784 semapv:UnspecifiedMatching OMIM:607544 LRPPRC skos:exactMatch ncbigene:10128 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:LRPPRC semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch UMLS:C1423677 semapv:UnspecifiedMatching OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:MSMO1 semapv:UnspecifiedMatching OMIM:607545 MSMO1 skos:exactMatch ncbigene:6307 semapv:UnspecifiedMatching OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:CD200R1 semapv:UnspecifiedMatching OMIM:607546 CD200R1 skos:exactMatch ncbigene:131450 semapv:UnspecifiedMatching -OMIM:607547 RPL39L skos:exactMatch ncbigene:116832 semapv:UnspecifiedMatching OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:RPL39L semapv:UnspecifiedMatching -OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:RSPH6A semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch ncbigene:116832 semapv:UnspecifiedMatching OMIM:607548 RSPH6A skos:exactMatch ncbigene:81492 semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:RSPH6A semapv:UnspecifiedMatching OMIM:607549 POTED skos:exactMatch hgnc.symbol:POTED semapv:UnspecifiedMatching OMIM:607549 POTED skos:exactMatch ncbigene:317754 semapv:UnspecifiedMatching OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:SLC16A10 semapv:UnspecifiedMatching OMIM:607550 SLC16A10 skos:exactMatch ncbigene:117247 semapv:UnspecifiedMatching OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:SDF2L1 semapv:UnspecifiedMatching OMIM:607551 SDF2L1 skos:exactMatch ncbigene:23753 semapv:UnspecifiedMatching -OMIM:607553 EPPK1 skos:exactMatch ncbigene:83481 semapv:UnspecifiedMatching OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:EPPK1 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch ncbigene:83481 semapv:UnspecifiedMatching OMIM:607555 TOR3A skos:exactMatch ncbigene:64222 semapv:UnspecifiedMatching OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:TOR3A semapv:UnspecifiedMatching OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:TWIST2 semapv:UnspecifiedMatching @@ -23702,8 +23706,8 @@ OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:SLC17A8 semapv:UnspecifiedMatchi OMIM:607557 SLC17A8 skos:exactMatch ncbigene:246213 semapv:UnspecifiedMatching OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:SEC14L2 semapv:UnspecifiedMatching OMIM:607558 SEC14L2 skos:exactMatch ncbigene:23541 semapv:UnspecifiedMatching -OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:MGRN1 semapv:UnspecifiedMatching OMIM:607559 MGRN1 skos:exactMatch ncbigene:23295 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:MGRN1 semapv:UnspecifiedMatching OMIM:607560 ARHGEF2 skos:exactMatch ncbigene:9181 semapv:UnspecifiedMatching OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:ARHGEF2 semapv:UnspecifiedMatching OMIM:607562 IL23R skos:exactMatch hgnc.symbol:IL23R semapv:UnspecifiedMatching @@ -23735,8 +23739,8 @@ OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:CECR2 semapv:UnspecifiedMatching OMIM:607576 CECR2 skos:exactMatch ncbigene:27443 semapv:UnspecifiedMatching OMIM:607577 ENTPD4 skos:exactMatch ncbigene:9583 semapv:UnspecifiedMatching OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:ENTPD4 semapv:UnspecifiedMatching -OMIM:607579 SLC22A9 skos:exactMatch ncbigene:114571 semapv:UnspecifiedMatching OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:SLC22A9 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch ncbigene:114571 semapv:UnspecifiedMatching OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:SLC22A10 semapv:UnspecifiedMatching OMIM:607580 SLC22A10 skos:exactMatch ncbigene:387775 semapv:UnspecifiedMatching OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:SLC22A8 semapv:UnspecifiedMatching @@ -23745,30 +23749,30 @@ OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:SLC22A6 semapv:UnspecifiedMatchi OMIM:607582 SLC22A6 skos:exactMatch ncbigene:9356 semapv:UnspecifiedMatching OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:PEX11G semapv:UnspecifiedMatching OMIM:607583 PEX11G skos:exactMatch ncbigene:92960 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch ncbigene:472 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch hgnc.symbol:ATM semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017104 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017103 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017101 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017102 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017103 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017100 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch hgnc.symbol:ATM semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017104 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017099 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017102 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch ncbigene:472 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C1876175 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C1843542 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0919524 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017098 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C1843542 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C1876175 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0919524 semapv:UnspecifiedMatching OMIM:607586 CARF skos:exactMatch hgnc.symbol:CARF semapv:UnspecifiedMatching OMIM:607586 CARF skos:exactMatch ncbigene:79800 semapv:UnspecifiedMatching -OMIM:607587 IL17D skos:exactMatch ncbigene:53342 semapv:UnspecifiedMatching OMIM:607587 IL17D skos:exactMatch hgnc.symbol:IL17D semapv:UnspecifiedMatching -OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:PPIL2 semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch ncbigene:53342 semapv:UnspecifiedMatching OMIM:607588 PPIL2 skos:exactMatch ncbigene:23759 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:PPIL2 semapv:UnspecifiedMatching OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:SGK2 semapv:UnspecifiedMatching OMIM:607589 SGK2 skos:exactMatch ncbigene:10110 semapv:UnspecifiedMatching OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:BBS7 semapv:UnspecifiedMatching @@ -23785,8 +23789,8 @@ OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:KCNG4 semapv:UnspecifiedMatching OMIM:607603 KCNG4 skos:exactMatch ncbigene:93107 semapv:UnspecifiedMatching OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:KCNV2 semapv:UnspecifiedMatching OMIM:607604 KCNV2 skos:exactMatch ncbigene:169522 semapv:UnspecifiedMatching -OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:GSTA5 semapv:UnspecifiedMatching OMIM:607605 GSTA5 skos:exactMatch ncbigene:221357 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:GSTA5 semapv:UnspecifiedMatching OMIM:607606 KRT9 skos:exactMatch ncbigene:3857 semapv:UnspecifiedMatching OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:KRT9 semapv:UnspecifiedMatching OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:NUP54 semapv:UnspecifiedMatching @@ -23795,8 +23799,8 @@ OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:SMPD1 semapv:UnspecifiedMatching OMIM:607608 SMPD1 skos:exactMatch ncbigene:6609 semapv:UnspecifiedMatching OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:PPIL4 semapv:UnspecifiedMatching OMIM:607609 PPIL4 skos:exactMatch ncbigene:85313 semapv:UnspecifiedMatching -OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:PLSCR2 semapv:UnspecifiedMatching OMIM:607610 PLSCR2 skos:exactMatch ncbigene:57047 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:PLSCR2 semapv:UnspecifiedMatching OMIM:607611 PLSCR3 skos:exactMatch ncbigene:57048 semapv:UnspecifiedMatching OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:PLSCR3 semapv:UnspecifiedMatching OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:PLSCR4 semapv:UnspecifiedMatching @@ -23805,8 +23809,8 @@ OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:NUP133 semapv:UnspecifiedMatching OMIM:607613 NUP133 skos:exactMatch ncbigene:55746 semapv:UnspecifiedMatching OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:NUP160 semapv:UnspecifiedMatching OMIM:607614 NUP160 skos:exactMatch ncbigene:23279 semapv:UnspecifiedMatching -OMIM:607615 NUP58 skos:exactMatch ncbigene:9818 semapv:UnspecifiedMatching OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:NUP58 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch ncbigene:9818 semapv:UnspecifiedMatching OMIM:607617 NUP107 skos:exactMatch ncbigene:57122 semapv:UnspecifiedMatching OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:NUP107 semapv:UnspecifiedMatching OMIM:607618 DDX28 skos:exactMatch UMLS:C1424908 semapv:UnspecifiedMatching @@ -23816,8 +23820,8 @@ OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:FRMD3 semapv:UnspecifiedMatching OMIM:607619 FRMD3 skos:exactMatch ncbigene:257019 semapv:UnspecifiedMatching OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:COLEC10 semapv:UnspecifiedMatching OMIM:607620 COLEC10 skos:exactMatch ncbigene:10584 semapv:UnspecifiedMatching -OMIM:607621 COLEC12 skos:exactMatch ncbigene:81035 semapv:UnspecifiedMatching OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:COLEC12 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch ncbigene:81035 semapv:UnspecifiedMatching OMIM:607622 PMVK skos:exactMatch ncbigene:10654 semapv:UnspecifiedMatching OMIM:607622 PMVK skos:exactMatch hgnc.symbol:PMVK semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C0268247 semapv:UnspecifiedMatching @@ -23840,51 +23844,51 @@ OMIM:607630 APH1B skos:exactMatch hgnc.symbol:APH1B semapv:UnspecifiedMatching OMIM:607630 APH1B skos:exactMatch ncbigene:83464 semapv:UnspecifiedMatching OMIM:607632 PSENEN skos:exactMatch ncbigene:55851 semapv:UnspecifiedMatching OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:PSENEN semapv:UnspecifiedMatching -OMIM:607633 XDH skos:exactMatch hgnc.symbol:XDH semapv:UnspecifiedMatching OMIM:607633 XDH skos:exactMatch ncbigene:7498 semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch hgnc.symbol:XDH semapv:UnspecifiedMatching OMIM:607635 CPA4 skos:exactMatch UMLS:C1423695 semapv:UnspecifiedMatching OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:CPA4 semapv:UnspecifiedMatching OMIM:607635 CPA4 skos:exactMatch ncbigene:51200 semapv:UnspecifiedMatching OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:EMX2OS semapv:UnspecifiedMatching OMIM:607637 EMX2OS skos:exactMatch ncbigene:196047 semapv:UnspecifiedMatching -OMIM:607638 DCTD skos:exactMatch ncbigene:1635 semapv:UnspecifiedMatching OMIM:607638 DCTD skos:exactMatch hgnc.symbol:DCTD semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch ncbigene:1635 semapv:UnspecifiedMatching OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:SSC4D semapv:UnspecifiedMatching OMIM:607639 SSC4D skos:exactMatch ncbigene:136853 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch ncbigene:6314 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:ATXN7 semapv:UnspecifiedMatching OMIM:607640 ATXN7 skos:exactMatch UMLS:C0752125 semapv:UnspecifiedMatching OMIM:607640 ATXN7 skos:exactMatch UMLS:C1538303 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:ATXN7 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch ncbigene:6314 semapv:UnspecifiedMatching OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:RAI1 semapv:UnspecifiedMatching OMIM:607642 RAI1 skos:exactMatch ncbigene:10743 semapv:UnspecifiedMatching OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:FSCN2 semapv:UnspecifiedMatching OMIM:607643 FSCN2 skos:exactMatch ncbigene:25794 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch ncbigene:27065 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:NSG1 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch UMLS:C1538144 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:ZBTB7B semapv:UnspecifiedMatching OMIM:607646 ZBTB7B skos:exactMatch ncbigene:51043 semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:ZBTB7B semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch UMLS:C1538144 semapv:UnspecifiedMatching OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:PLVAP semapv:UnspecifiedMatching OMIM:607647 PLVAP skos:exactMatch ncbigene:83483 semapv:UnspecifiedMatching OMIM:607648 STK39 skos:exactMatch hgnc.symbol:STK39 semapv:UnspecifiedMatching OMIM:607648 STK39 skos:exactMatch ncbigene:27347 semapv:UnspecifiedMatching OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:OSTM1 semapv:UnspecifiedMatching OMIM:607649 OSTM1 skos:exactMatch ncbigene:28962 semapv:UnspecifiedMatching -OMIM:607650 DEFB118 skos:exactMatch ncbigene:117285 semapv:UnspecifiedMatching OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:DEFB118 semapv:UnspecifiedMatching -OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:PLEKHB1 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch ncbigene:117285 semapv:UnspecifiedMatching OMIM:607651 PLEKHB1 skos:exactMatch ncbigene:58473 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:PLEKHB1 semapv:UnspecifiedMatching OMIM:607652 STK36 skos:exactMatch hgnc.symbol:STK36 semapv:UnspecifiedMatching OMIM:607652 STK36 skos:exactMatch ncbigene:27148 semapv:UnspecifiedMatching OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:RHOJ semapv:UnspecifiedMatching OMIM:607653 RHOJ skos:exactMatch ncbigene:57381 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch ncbigene:1491 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch hgnc.symbol:CTH semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch UMLS:C5436963 semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch UMLS:C1413792 semapv:UnspecifiedMatching -OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:EAF2 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch UMLS:C5436963 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch hgnc.symbol:CTH semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch ncbigene:1491 semapv:UnspecifiedMatching OMIM:607659 EAF2 skos:exactMatch ncbigene:55840 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:EAF2 semapv:UnspecifiedMatching OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:TSSK3 semapv:UnspecifiedMatching OMIM:607660 TSSK3 skos:exactMatch ncbigene:81629 semapv:UnspecifiedMatching OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:SPATA2 semapv:UnspecifiedMatching @@ -23894,36 +23898,36 @@ OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:DDX25 semapv:UnspecifiedMatching OMIM:607663 DDX25 skos:exactMatch ncbigene:29118 semapv:UnspecifiedMatching OMIM:607664 GNS skos:exactMatch hgnc.symbol:GNS semapv:UnspecifiedMatching OMIM:607664 GNS skos:exactMatch ncbigene:2799 semapv:UnspecifiedMatching -OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:ANGPTL5 semapv:UnspecifiedMatching OMIM:607666 ANGPTL5 skos:exactMatch ncbigene:253935 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:ANGPTL5 semapv:UnspecifiedMatching OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:CTNNA3 semapv:UnspecifiedMatching OMIM:607667 CTNNA3 skos:exactMatch ncbigene:29119 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:ARL6IP4 semapv:UnspecifiedMatching OMIM:607668 ARL6IP4 skos:exactMatch UMLS:C1425285 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:ARL6IP4 semapv:UnspecifiedMatching OMIM:607668 ARL6IP4 skos:exactMatch ncbigene:51329 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch ncbigene:23204 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:ARL6IP1 semapv:UnspecifiedMatching OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C1824208 semapv:UnspecifiedMatching OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C3810294 semapv:UnspecifiedMatching -OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:ARL6IP1 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch ncbigene:23204 semapv:UnspecifiedMatching OMIM:607670 STK33 skos:exactMatch ncbigene:65975 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:CLCF1 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch ncbigene:23529 semapv:UnspecifiedMatching OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:EDEM1 semapv:UnspecifiedMatching OMIM:607673 EDEM1 skos:exactMatch ncbigene:9695 semapv:UnspecifiedMatching -OMIM:607675 RCOR skos:exactMatch ncbigene:23186 semapv:UnspecifiedMatching OMIM:607675 RCOR skos:exactMatch hgnc.symbol:RCOR1 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch ncbigene:23186 semapv:UnspecifiedMatching OMIM:607676 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching OMIM:607676 immunodeficiency 67 skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch UMLS:C1426080 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:DOCK4 semapv:UnspecifiedMatching OMIM:607679 DOCK4 skos:exactMatch ncbigene:9732 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:DOCK4 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch UMLS:C1426080 semapv:UnspecifiedMatching OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:RCHY1 semapv:UnspecifiedMatching OMIM:607680 ZNF363 skos:exactMatch ncbigene:25898 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:FIP1L1 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch ncbigene:81608 semapv:UnspecifiedMatching -OMIM:607690 SAR1B skos:exactMatch ncbigene:51128 semapv:UnspecifiedMatching OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:SAR1B semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch ncbigene:51128 semapv:UnspecifiedMatching OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:SAR1A semapv:UnspecifiedMatching OMIM:607691 SAR1A skos:exactMatch ncbigene:56681 semapv:UnspecifiedMatching OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:SECISBP2 semapv:UnspecifiedMatching @@ -23932,8 +23936,8 @@ OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/ OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch UMLS:C2676243 semapv:UnspecifiedMatching OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch UMLS:C2676243 semapv:UnspecifiedMatching OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:EEFSEC semapv:UnspecifiedMatching OMIM:607695 EEFSEC skos:exactMatch ncbigene:60678 semapv:UnspecifiedMatching OMIM:607696 USH1G skos:exactMatch hgnc.symbol:USH1G semapv:UnspecifiedMatching @@ -23942,61 +23946,61 @@ OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:SBF2 semapv:UnspecifiedMatching OMIM:607697 SBF2 skos:exactMatch ncbigene:81846 semapv:UnspecifiedMatching OMIM:607698 LCOR skos:exactMatch ncbigene:84458 semapv:UnspecifiedMatching OMIM:607698 LCOR skos:exactMatch hgnc.symbol:LCOR semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch UMLS:C1419420 semapv:UnspecifiedMatching OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:RNF20 semapv:UnspecifiedMatching OMIM:607699 RNF20 skos:exactMatch ncbigene:56254 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch UMLS:C1419420 semapv:UnspecifiedMatching OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:RNF40 semapv:UnspecifiedMatching OMIM:607700 RNF40 skos:exactMatch ncbigene:9810 semapv:UnspecifiedMatching OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:KLHL41 semapv:UnspecifiedMatching OMIM:607701 KLHL41 skos:exactMatch ncbigene:10324 semapv:UnspecifiedMatching -OMIM:607702 TCIM skos:exactMatch hgnc.symbol:TCIM semapv:UnspecifiedMatching OMIM:607702 TCIM skos:exactMatch ncbigene:56892 semapv:UnspecifiedMatching -OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:NUP210 semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch hgnc.symbol:TCIM semapv:UnspecifiedMatching OMIM:607703 NUP210 skos:exactMatch ncbigene:23225 semapv:UnspecifiedMatching -OMIM:607704 KANK1 skos:exactMatch ncbigene:23189 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:NUP210 semapv:UnspecifiedMatching OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:KANK1 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch ncbigene:23189 semapv:UnspecifiedMatching OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:PSME4 semapv:UnspecifiedMatching OMIM:607705 PSME4 skos:exactMatch ncbigene:23198 semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch UMLS:C1413100 semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch UMLS:C4540484 semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:CAMK2B semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch ncbigene:816 semapv:UnspecifiedMatching -OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:CAMK2D semapv:UnspecifiedMatching OMIM:607708 CAMK2D skos:exactMatch ncbigene:817 semapv:UnspecifiedMatching -OMIM:607709 TJP2 skos:exactMatch ncbigene:9414 semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:CAMK2D semapv:UnspecifiedMatching OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:TJP2 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch ncbigene:9414 semapv:UnspecifiedMatching OMIM:607710 FAM189A2 skos:exactMatch hgnc.symbol:ENTREP1 semapv:UnspecifiedMatching OMIM:607710 FAM189A2 skos:exactMatch ncbigene:9413 semapv:UnspecifiedMatching OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:DIP2A semapv:UnspecifiedMatching OMIM:607711 DIP2A skos:exactMatch ncbigene:23181 semapv:UnspecifiedMatching OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:HIC2 semapv:UnspecifiedMatching OMIM:607712 HIC2 skos:exactMatch ncbigene:23119 semapv:UnspecifiedMatching -OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:FGFBP2 semapv:UnspecifiedMatching OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch ncbigene:83888 semapv:UnspecifiedMatching -OMIM:607714 TNIP1 skos:exactMatch ncbigene:10318 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:FGFBP2 semapv:UnspecifiedMatching OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:TNIP1 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch ncbigene:10318 semapv:UnspecifiedMatching OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:TSC22D1 semapv:UnspecifiedMatching OMIM:607715 TSC22D1 skos:exactMatch ncbigene:8848 semapv:UnspecifiedMatching OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:SYT13 semapv:UnspecifiedMatching OMIM:607716 SYT13 skos:exactMatch ncbigene:57586 semapv:UnspecifiedMatching OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:TNS2 semapv:UnspecifiedMatching OMIM:607717 TNS2 skos:exactMatch ncbigene:23371 semapv:UnspecifiedMatching -OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:SYT6 semapv:UnspecifiedMatching OMIM:607718 SYT6 skos:exactMatch ncbigene:148281 semapv:UnspecifiedMatching -OMIM:607719 SYT8 skos:exactMatch ncbigene:90019 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:SYT6 semapv:UnspecifiedMatching OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:SYT8 semapv:UnspecifiedMatching -OMIM:607720 TSNAXIP1 skos:exactMatch ncbigene:55815 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch ncbigene:90019 semapv:UnspecifiedMatching OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:TSNAXIP1 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch ncbigene:55815 semapv:UnspecifiedMatching OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:EMC2 semapv:UnspecifiedMatching OMIM:607722 EMC2 skos:exactMatch ncbigene:9694 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch ncbigene:23353 semapv:UnspecifiedMatching OMIM:607723 SUN1 skos:exactMatch UMLS:C1425625 semapv:UnspecifiedMatching OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:SUN1 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch ncbigene:23353 semapv:UnspecifiedMatching -OMIM:607724 CAPS2 skos:exactMatch ncbigene:84698 semapv:UnspecifiedMatching OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:CAPS2 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch ncbigene:84698 semapv:UnspecifiedMatching OMIM:607725 PARP2 skos:exactMatch UMLS:C1538580 semapv:UnspecifiedMatching OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:PARP2 semapv:UnspecifiedMatching OMIM:607725 PARP2 skos:exactMatch ncbigene:10038 semapv:UnspecifiedMatching @@ -24004,17 +24008,17 @@ OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:PARP3 semapv:UnspecifiedMatching OMIM:607726 PARP3 skos:exactMatch ncbigene:10039 semapv:UnspecifiedMatching OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:CAND1 semapv:UnspecifiedMatching OMIM:607727 CAND1 skos:exactMatch ncbigene:55832 semapv:UnspecifiedMatching -OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:DDIT4 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:DDIT4L semapv:UnspecifiedMatching OMIM:607730 DDIT4L skos:exactMatch ncbigene:115265 semapv:UnspecifiedMatching -OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching OMIM:607732 SARM1 skos:exactMatch ncbigene:23098 semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch UMLS:C1539732 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:SCRIB semapv:UnspecifiedMatching OMIM:607733 SCRIB skos:exactMatch ncbigene:23513 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch UMLS:C1539732 semapv:UnspecifiedMatching OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching OMIM:607735 PGRMC2 skos:exactMatch UMLS:C1423970 semapv:UnspecifiedMatching OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:PGRMC2 semapv:UnspecifiedMatching @@ -24023,21 +24027,21 @@ OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:FGFBP1 semapv:UnspecifiedMatching OMIM:607737 FGFBP1 skos:exactMatch ncbigene:9982 semapv:UnspecifiedMatching OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:KCNB2 semapv:UnspecifiedMatching OMIM:607738 KCNB2 skos:exactMatch ncbigene:9312 semapv:UnspecifiedMatching -OMIM:607740 USP32 skos:exactMatch hgnc.symbol:USP32 semapv:UnspecifiedMatching OMIM:607740 USP32 skos:exactMatch ncbigene:84669 semapv:UnspecifiedMatching -OMIM:607741 TBC1D3 skos:exactMatch ncbigene:729873 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch hgnc.symbol:USP32 semapv:UnspecifiedMatching OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:TBC1D3 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch ncbigene:729873 semapv:UnspecifiedMatching OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:KRT24 semapv:UnspecifiedMatching OMIM:607742 KRT24 skos:exactMatch ncbigene:192666 semapv:UnspecifiedMatching OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:FRS2 semapv:UnspecifiedMatching OMIM:607743 FRS2 skos:exactMatch ncbigene:10818 semapv:UnspecifiedMatching -OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:FRS3 semapv:UnspecifiedMatching OMIM:607744 FRS3 skos:exactMatch ncbigene:10817 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:FRS3 semapv:UnspecifiedMatching OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching -OMIM:607746 FERMT2 skos:exactMatch ncbigene:10979 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:FERMT2 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch ncbigene:10979 semapv:UnspecifiedMatching OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:FBLIM1 semapv:UnspecifiedMatching OMIM:607747 FBLIM1 skos:exactMatch ncbigene:54751 semapv:UnspecifiedMatching OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:CDCA3 semapv:UnspecifiedMatching @@ -24046,16 +24050,16 @@ OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:APOBEC3C semapv:UnspecifiedMatc OMIM:607750 APOBEC3C skos:exactMatch ncbigene:27350 semapv:UnspecifiedMatching OMIM:607751 TAS2R38 skos:exactMatch ncbigene:5726 semapv:UnspecifiedMatching OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:TAS2R38 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch ncbigene:10309 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch hgnc.symbol:CCNO semapv:UnspecifiedMatching OMIM:607752 CCNO skos:exactMatch UMLS:C1425614 semapv:UnspecifiedMatching OMIM:607752 CCNO skos:exactMatch UMLS:C4014534 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch hgnc.symbol:CCNO semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch ncbigene:10309 semapv:UnspecifiedMatching OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:SMUG1 semapv:UnspecifiedMatching OMIM:607753 SMUG1 skos:exactMatch ncbigene:23583 semapv:UnspecifiedMatching OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:MKRN1 semapv:UnspecifiedMatching OMIM:607754 MKRN1 skos:exactMatch ncbigene:23608 semapv:UnspecifiedMatching -OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:MAPK8IP2 semapv:UnspecifiedMatching OMIM:607755 MAPK8IP2 skos:exactMatch ncbigene:23542 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:MAPK8IP2 semapv:UnspecifiedMatching OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:AASDHPPT semapv:UnspecifiedMatching OMIM:607756 AASDHPPT skos:exactMatch ncbigene:60496 semapv:UnspecifiedMatching OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:CBY1 semapv:UnspecifiedMatching @@ -24066,37 +24070,37 @@ OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:ITGA2B semapv:UnspecifiedMatching OMIM:607759 ITGA2B skos:exactMatch ncbigene:3674 semapv:UnspecifiedMatching OMIM:607760 TOPBP1 skos:exactMatch ncbigene:11073 semapv:UnspecifiedMatching OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:TOPBP1 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:KIRREL3 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch ncbigene:84623 semapv:UnspecifiedMatching OMIM:607761 KIRREL3 skos:exactMatch UMLS:C1427986 semapv:UnspecifiedMatching OMIM:607761 KIRREL3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:KIRREL3 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch ncbigene:84623 semapv:UnspecifiedMatching OMIM:607762 KIRREL2 skos:exactMatch UMLS:C1425795 semapv:UnspecifiedMatching OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:KIRREL2 semapv:UnspecifiedMatching OMIM:607762 KIRREL2 skos:exactMatch ncbigene:84063 semapv:UnspecifiedMatching OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:ACAP1 semapv:UnspecifiedMatching OMIM:607763 CENTB1 skos:exactMatch ncbigene:9744 semapv:UnspecifiedMatching -OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:HSD3B7 semapv:UnspecifiedMatching OMIM:607764 HSD3B7 skos:exactMatch ncbigene:80270 semapv:UnspecifiedMatching -OMIM:607766 CENTB2 skos:exactMatch ncbigene:23527 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:HSD3B7 semapv:UnspecifiedMatching OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:ACAP2 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch ncbigene:23527 semapv:UnspecifiedMatching OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:SESN2 semapv:UnspecifiedMatching OMIM:607767 SESN2 skos:exactMatch ncbigene:83667 semapv:UnspecifiedMatching OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:SESN3 semapv:UnspecifiedMatching OMIM:607768 SESN3 skos:exactMatch ncbigene:143686 semapv:UnspecifiedMatching OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:PLEKHA4 semapv:UnspecifiedMatching OMIM:607769 PLEKHA4 skos:exactMatch ncbigene:57664 semapv:UnspecifiedMatching -OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:PLEKHA5 semapv:UnspecifiedMatching OMIM:607770 PLEKHA5 skos:exactMatch ncbigene:54477 semapv:UnspecifiedMatching -OMIM:607771 PLEKHA6 skos:exactMatch ncbigene:22874 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:PLEKHA5 semapv:UnspecifiedMatching OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:PLEKHA6 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch ncbigene:22874 semapv:UnspecifiedMatching OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:PLEKHA1 semapv:UnspecifiedMatching OMIM:607772 PLEKHA1 skos:exactMatch ncbigene:59338 semapv:UnspecifiedMatching OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:PLEKHA2 semapv:UnspecifiedMatching OMIM:607773 PLEKHA2 skos:exactMatch ncbigene:59339 semapv:UnspecifiedMatching OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:PLEKHA3 semapv:UnspecifiedMatching OMIM:607774 PLEKHA3 skos:exactMatch ncbigene:65977 semapv:UnspecifiedMatching -OMIM:607775 KCNE4 skos:exactMatch ncbigene:23704 semapv:UnspecifiedMatching OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:KCNE4 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch ncbigene:23704 semapv:UnspecifiedMatching OMIM:607776 SIN3A skos:exactMatch ncbigene:25942 semapv:UnspecifiedMatching OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:SIN3A semapv:UnspecifiedMatching OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:SIN3B semapv:UnspecifiedMatching @@ -24107,31 +24111,31 @@ OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:PAQR8 semapv:UnspecifiedMatching OMIM:607780 PAQR8 skos:exactMatch ncbigene:85315 semapv:UnspecifiedMatching OMIM:607781 PAQR5 skos:exactMatch ncbigene:54852 semapv:UnspecifiedMatching OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:PAQR5 semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch UMLS:C1416935 semapv:UnspecifiedMatching OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:LUC7L semapv:UnspecifiedMatching OMIM:607782 LUC7L skos:exactMatch ncbigene:55692 semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch UMLS:C1416935 semapv:UnspecifiedMatching -OMIM:607783 MESD skos:exactMatch ncbigene:23184 semapv:UnspecifiedMatching OMIM:607783 MESD skos:exactMatch hgnc.symbol:MESD semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch ncbigene:23184 semapv:UnspecifiedMatching OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:ABCG4 semapv:UnspecifiedMatching OMIM:607784 ABCG4 skos:exactMatch ncbigene:64137 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C1426592 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C3276239 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:PCSK9 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C3276239 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch ncbigene:255738 semapv:UnspecifiedMatching -OMIM:607787 GPR180 skos:exactMatch ncbigene:160897 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C1426592 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:GPR180 semapv:UnspecifiedMatching -OMIM:607788 MCFD2 skos:exactMatch ncbigene:90411 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch ncbigene:160897 semapv:UnspecifiedMatching OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:MCFD2 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch ncbigene:90411 semapv:UnspecifiedMatching OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:PHF3 semapv:UnspecifiedMatching OMIM:607789 PHF3 skos:exactMatch ncbigene:23469 semapv:UnspecifiedMatching OMIM:607790 TET1 skos:exactMatch UMLS:C1428863 semapv:UnspecifiedMatching OMIM:607790 TET1 skos:exactMatch hgnc.symbol:TET1 semapv:UnspecifiedMatching OMIM:607790 TET1 skos:exactMatch ncbigene:80312 semapv:UnspecifiedMatching -OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:GCSAM semapv:UnspecifiedMatching OMIM:607792 GCSAM skos:exactMatch ncbigene:257144 semapv:UnspecifiedMatching -OMIM:607793 PPAN skos:exactMatch ncbigene:56342 semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:GCSAM semapv:UnspecifiedMatching OMIM:607793 PPAN skos:exactMatch hgnc.symbol:PPAN semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch ncbigene:56342 semapv:UnspecifiedMatching OMIM:607794 MESTIT1 skos:exactMatch UMLS:C1425221 semapv:UnspecifiedMatching OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:MESTIT1 semapv:UnspecifiedMatching OMIM:607794 MESTIT1 skos:exactMatch ncbigene:317751 semapv:UnspecifiedMatching @@ -24139,10 +24143,10 @@ OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:PRPF4 semapv:UnspecifiedMatching OMIM:607795 PRPF4 skos:exactMatch ncbigene:9128 semapv:UnspecifiedMatching OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:PHF11 semapv:UnspecifiedMatching OMIM:607796 PHF11 skos:exactMatch ncbigene:51131 semapv:UnspecifiedMatching -OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:SNRNP40 semapv:UnspecifiedMatching OMIM:607797 SNRNP40 skos:exactMatch ncbigene:9410 semapv:UnspecifiedMatching -OMIM:607798 TAF1L skos:exactMatch ncbigene:138474 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:SNRNP40 semapv:UnspecifiedMatching OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:TAF1L semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch ncbigene:138474 semapv:UnspecifiedMatching OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:ZDHHC17 semapv:UnspecifiedMatching OMIM:607799 ZDHHC17 skos:exactMatch ncbigene:23390 semapv:UnspecifiedMatching OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:ABCA12 semapv:UnspecifiedMatching @@ -24163,8 +24167,8 @@ OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:NKX2-4 semapv:UnspecifiedMatching OMIM:607808 NKX2-4 skos:exactMatch ncbigene:644524 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch ncbigene:38 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:ACAT1 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch UMLS:C1412111 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching OMIM:607810 RSAD2 skos:exactMatch UMLS:C1539703 semapv:UnspecifiedMatching OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:RSAD2 semapv:UnspecifiedMatching OMIM:607810 RSAD2 skos:exactMatch ncbigene:91543 semapv:UnspecifiedMatching @@ -24172,18 +24176,18 @@ OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:PAK1IP1 semapv:UnspecifiedMatchi OMIM:607811 PAK1IP1 skos:exactMatch ncbigene:55003 semapv:UnspecifiedMatching OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:PLPPR4 semapv:UnspecifiedMatching OMIM:607813 PLPPR4 skos:exactMatch ncbigene:9890 semapv:UnspecifiedMatching -OMIM:607814 RGS9BP skos:exactMatch ncbigene:388531 semapv:UnspecifiedMatching OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:RGS9BP semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch ncbigene:388531 semapv:UnspecifiedMatching OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:ANKS1B semapv:UnspecifiedMatching OMIM:607815 ANKS1B skos:exactMatch ncbigene:56899 semapv:UnspecifiedMatching OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:PCGF6 semapv:UnspecifiedMatching OMIM:607816 PCGF6 skos:exactMatch ncbigene:84108 semapv:UnspecifiedMatching OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:VPS13B semapv:UnspecifiedMatching OMIM:607817 VPS13B skos:exactMatch ncbigene:157680 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:ZNF365 semapv:UnspecifiedMatching OMIM:607818 ZNF365 skos:exactMatch ncbigene:22891 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch UMLS:C1425371 semapv:UnspecifiedMatching OMIM:607818 ZNF365 skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch UMLS:C1425371 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:ZNF365 semapv:UnspecifiedMatching OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:SLC30A5 semapv:UnspecifiedMatching OMIM:607819 SLC30A5 skos:exactMatch ncbigene:64924 semapv:UnspecifiedMatching OMIM:607820 HOOK1 skos:exactMatch UMLS:C1426505 semapv:UnspecifiedMatching @@ -24193,8 +24197,8 @@ OMIM:607824 HOOK2 skos:exactMatch ncbigene:29911 semapv:UnspecifiedMatching OMIM:607824 HOOK2 skos:exactMatch UMLS:C1426506 semapv:UnspecifiedMatching OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:HOOK2 semapv:UnspecifiedMatching OMIM:607825 HOOK3 skos:exactMatch ncbigene:84376 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:HOOK3 semapv:UnspecifiedMatching OMIM:607825 HOOK3 skos:exactMatch UMLS:C1428139 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:HOOK3 semapv:UnspecifiedMatching OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:AHCYL1 semapv:UnspecifiedMatching OMIM:607826 AHCYL1 skos:exactMatch ncbigene:10768 semapv:UnspecifiedMatching OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:OTOP2 semapv:UnspecifiedMatching @@ -24212,51 +24216,51 @@ OMIM:607837 CLN8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:CLN8 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch ncbigene:2055 semapv:UnspecifiedMatching -OMIM:607838 GNPTG skos:exactMatch ncbigene:84572 semapv:UnspecifiedMatching OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:GNPTG semapv:UnspecifiedMatching -OMIM:607839 GBE1 skos:exactMatch ncbigene:2632 semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch ncbigene:84572 semapv:UnspecifiedMatching OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:GBE1 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch ncbigene:2632 semapv:UnspecifiedMatching OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:GNPTAB semapv:UnspecifiedMatching OMIM:607840 GNPTAB skos:exactMatch ncbigene:79158 semapv:UnspecifiedMatching OMIM:607842 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching OMIM:607842 aural atresia, congenital skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching -OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:PKHD1L1 semapv:UnspecifiedMatching OMIM:607843 PKHD1L1 skos:exactMatch ncbigene:93035 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:PKHD1L1 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch ncbigene:23592 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:LEMD3 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C5394581 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:LEMD3 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149695 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149399 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C1537562 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149399 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch UMLS:C1425032 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:XPO5 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch ncbigene:57510 semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch ncbigene:55798 semapv:UnspecifiedMatching OMIM:607846 METTL2B skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch ncbigene:55798 semapv:UnspecifiedMatching OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:METTL2B semapv:UnspecifiedMatching OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching OMIM:607848 RILP skos:exactMatch hgnc.symbol:RILP semapv:UnspecifiedMatching OMIM:607848 RILP skos:exactMatch ncbigene:83547 semapv:UnspecifiedMatching -OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:RDH11 semapv:UnspecifiedMatching OMIM:607849 RDH11 skos:exactMatch ncbigene:51109 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:RDH11 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch ncbigene:85407 semapv:UnspecifiedMatching OMIM:607851 NKD1 skos:exactMatch UMLS:C1424706 semapv:UnspecifiedMatching OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:NKD1 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch ncbigene:85407 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch UMLS:C1424707 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:NKD2 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch ncbigene:85409 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch ncbigene:7439 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:BEST1 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:BEST1 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch ncbigene:7439 semapv:UnspecifiedMatching OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:CGNL1 semapv:UnspecifiedMatching @@ -24265,8 +24269,8 @@ OMIM:607858 PARL skos:exactMatch hgnc.symbol:PARL semapv:UnspecifiedMatching OMIM:607858 PARL skos:exactMatch ncbigene:55486 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch ncbigene:55249 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:YY1AP1 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1538138 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:DACT1 semapv:UnspecifiedMatching OMIM:607861 DACT1 skos:exactMatch ncbigene:51339 semapv:UnspecifiedMatching OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:DIRAS1 semapv:UnspecifiedMatching @@ -24275,39 +24279,39 @@ OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:DIRAS2 semapv:UnspecifiedMatching OMIM:607863 DIRAS2 skos:exactMatch ncbigene:54769 semapv:UnspecifiedMatching OMIM:607865 SETDB2 skos:exactMatch ncbigene:83852 semapv:UnspecifiedMatching OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:SETDB2 semapv:UnspecifiedMatching -OMIM:607866 SPRYD7 skos:exactMatch ncbigene:57213 semapv:UnspecifiedMatching OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:SPRYD7 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch ncbigene:57213 semapv:UnspecifiedMatching OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:RCBTB1 semapv:UnspecifiedMatching OMIM:607867 RCBTB1 skos:exactMatch ncbigene:55213 semapv:UnspecifiedMatching OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:TRIM11 semapv:UnspecifiedMatching OMIM:607868 TRIM11 skos:exactMatch ncbigene:81559 semapv:UnspecifiedMatching -OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:UNC5A semapv:UnspecifiedMatching OMIM:607869 UNC5A skos:exactMatch ncbigene:90249 semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch UMLS:C1421358 semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:UNC5A semapv:UnspecifiedMatching OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:UNC5B semapv:UnspecifiedMatching OMIM:607870 UNC5B skos:exactMatch ncbigene:219699 semapv:UnspecifiedMatching -OMIM:607871 FBXO11 skos:exactMatch ncbigene:80204 semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch UMLS:C1421358 semapv:UnspecifiedMatching OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:FBXO11 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch ncbigene:80204 semapv:UnspecifiedMatching OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:SCARF1 semapv:UnspecifiedMatching OMIM:607873 SCARF1 skos:exactMatch ncbigene:8578 semapv:UnspecifiedMatching OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:ZNF444 semapv:UnspecifiedMatching OMIM:607874 ZNF444 skos:exactMatch ncbigene:55311 semapv:UnspecifiedMatching -OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:INPP5K semapv:UnspecifiedMatching OMIM:607875 INPP5K skos:exactMatch ncbigene:51763 semapv:UnspecifiedMatching -OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:OTOS semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:INPP5K semapv:UnspecifiedMatching OMIM:607877 otospiralin skos:exactMatch ncbigene:150677 semapv:UnspecifiedMatching -OMIM:607878 NNT skos:exactMatch ncbigene:23530 semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:OTOS semapv:UnspecifiedMatching OMIM:607878 NNT skos:exactMatch hgnc.symbol:NNT semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch ncbigene:23530 semapv:UnspecifiedMatching OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:EXOC1 semapv:UnspecifiedMatching OMIM:607879 EXOC1 skos:exactMatch ncbigene:55763 semapv:UnspecifiedMatching OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:EXOC6B semapv:UnspecifiedMatching OMIM:607880 EXOC6B skos:exactMatch ncbigene:23233 semapv:UnspecifiedMatching -OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:STAP2 semapv:UnspecifiedMatching OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch ncbigene:55620 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:STAP2 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch ncbigene:79581 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:SLC52A2 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch UMLS:C1539607 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch UMLS:C1539607 semapv:UnspecifiedMatching OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:SLC52A1 semapv:UnspecifiedMatching OMIM:607883 SLC52A1 skos:exactMatch ncbigene:55065 semapv:UnspecifiedMatching OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:CMTM1 semapv:UnspecifiedMatching @@ -24334,11 +24338,11 @@ OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:PKD1L3 semapv:UnspecifiedMatching OMIM:607895 PKD1L3 skos:exactMatch ncbigene:342372 semapv:UnspecifiedMatching OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:OVCA2 semapv:UnspecifiedMatching OMIM:607896 OVCA2 skos:exactMatch ncbigene:124641 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:MSI2 semapv:UnspecifiedMatching OMIM:607897 MSI2 skos:exactMatch ncbigene:124540 semapv:UnspecifiedMatching OMIM:607897 MSI2 skos:exactMatch UMLS:C1425623 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:MSI2 semapv:UnspecifiedMatching -OMIM:607898 TRIB3 skos:exactMatch ncbigene:57761 semapv:UnspecifiedMatching OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:TRIB3 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch ncbigene:57761 semapv:UnspecifiedMatching OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:WT1-AS semapv:UnspecifiedMatching OMIM:607899 WT1AS skos:exactMatch ncbigene:51352 semapv:UnspecifiedMatching OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:FERMT1 semapv:UnspecifiedMatching @@ -24355,16 +24359,16 @@ OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:LIMS2 semapv:UnspecifiedMatching OMIM:607908 LIMS2 skos:exactMatch ncbigene:55679 semapv:UnspecifiedMatching OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:AZIN1 semapv:UnspecifiedMatching OMIM:607909 AZIN1 skos:exactMatch ncbigene:51582 semapv:UnspecifiedMatching -OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:KIF9 semapv:UnspecifiedMatching OMIM:607910 KIF9 skos:exactMatch ncbigene:64147 semapv:UnspecifiedMatching -OMIM:607911 EPM2AIP1 skos:exactMatch ncbigene:9852 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:KIF9 semapv:UnspecifiedMatching OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:EPM2AIP1 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch ncbigene:9852 semapv:UnspecifiedMatching OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:SELENOT semapv:UnspecifiedMatching OMIM:607912 SELENOT skos:exactMatch ncbigene:51714 semapv:UnspecifiedMatching OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:GPX6 semapv:UnspecifiedMatching OMIM:607913 GPX6 skos:exactMatch ncbigene:257202 semapv:UnspecifiedMatching -OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:SELENOH semapv:UnspecifiedMatching OMIM:607914 SELENOH skos:exactMatch ncbigene:280636 semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:SELENOH semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:SELENOI semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch ncbigene:85465 semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch UMLS:C1842834 semapv:UnspecifiedMatching @@ -24375,8 +24379,8 @@ OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:SELENOO semapv:UnspecifiedMatchi OMIM:607917 SELENOO skos:exactMatch ncbigene:83642 semapv:UnspecifiedMatching OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:SELENOS semapv:UnspecifiedMatching OMIM:607918 SELENOS skos:exactMatch ncbigene:55829 semapv:UnspecifiedMatching -OMIM:607919 SELENOV skos:exactMatch ncbigene:348303 semapv:UnspecifiedMatching OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:SELENOV semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch ncbigene:348303 semapv:UnspecifiedMatching OMIM:607922 A4GALT skos:exactMatch ncbigene:53947 semapv:UnspecifiedMatching OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:A4GALT semapv:UnspecifiedMatching OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:SNAP91 semapv:UnspecifiedMatching @@ -24386,18 +24390,18 @@ OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:MALAT1 semapv:UnspecifiedMatching OMIM:607924 MALAT1 skos:exactMatch ncbigene:378938 semapv:UnspecifiedMatching OMIM:607925 BTLA skos:exactMatch hgnc.symbol:BTLA semapv:UnspecifiedMatching OMIM:607925 BTLA skos:exactMatch ncbigene:151888 semapv:UnspecifiedMatching -OMIM:607926 HCFC2 skos:exactMatch ncbigene:29915 semapv:UnspecifiedMatching OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:HCFC2 semapv:UnspecifiedMatching -OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:ANKFY1 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch ncbigene:29915 semapv:UnspecifiedMatching OMIM:607927 ANKFY1 skos:exactMatch ncbigene:51479 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:ANKFY1 semapv:UnspecifiedMatching OMIM:607928 WHRN skos:exactMatch hgnc.symbol:WHRN semapv:UnspecifiedMatching OMIM:607928 WHRN skos:exactMatch ncbigene:25861 semapv:UnspecifiedMatching OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:CCM2 semapv:UnspecifiedMatching OMIM:607929 CCM2 skos:exactMatch ncbigene:83605 semapv:UnspecifiedMatching OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:CYTL1 semapv:UnspecifiedMatching OMIM:607930 CYTL1 skos:exactMatch ncbigene:54360 semapv:UnspecifiedMatching -OMIM:607931 ATXN2L skos:exactMatch ncbigene:11273 semapv:UnspecifiedMatching OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:ATXN2L semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch ncbigene:11273 semapv:UnspecifiedMatching OMIM:607933 SLC7A11 skos:exactMatch ncbigene:23657 semapv:UnspecifiedMatching OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:SLC7A11 semapv:UnspecifiedMatching OMIM:607933 SLC7A11 skos:exactMatch UMLS:C1420222 semapv:UnspecifiedMatching @@ -24407,176 +24411,176 @@ OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:PADI2 semapv:UnspecifiedMatching OMIM:607935 PADI2 skos:exactMatch ncbigene:11240 semapv:UnspecifiedMatching OMIM:607937 NANOG skos:exactMatch hgnc.symbol:NANOG semapv:UnspecifiedMatching OMIM:607937 NANOG skos:exactMatch ncbigene:79923 semapv:UnspecifiedMatching -OMIM:607938 NTM skos:exactMatch ncbigene:50863 semapv:UnspecifiedMatching OMIM:607938 NTM skos:exactMatch hgnc.symbol:NTM semapv:UnspecifiedMatching -OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:SUMF1 semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch ncbigene:50863 semapv:UnspecifiedMatching OMIM:607939 SUMF1 skos:exactMatch ncbigene:285362 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:SUMF1 semapv:UnspecifiedMatching OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:SUMF2 semapv:UnspecifiedMatching OMIM:607940 SUMF2 skos:exactMatch ncbigene:25870 semapv:UnspecifiedMatching OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:PIK3AP1 semapv:UnspecifiedMatching OMIM:607942 PIK3AP1 skos:exactMatch ncbigene:118788 semapv:UnspecifiedMatching OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:RASA4 semapv:UnspecifiedMatching OMIM:607943 RASA4 skos:exactMatch ncbigene:10156 semapv:UnspecifiedMatching -OMIM:607945 ADIPOR1 skos:exactMatch ncbigene:51094 semapv:UnspecifiedMatching OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:ADIPOR1 semapv:UnspecifiedMatching -OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:ADIPOR2 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch ncbigene:51094 semapv:UnspecifiedMatching OMIM:607946 ADIPOR2 skos:exactMatch ncbigene:79602 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:ADIPOR2 semapv:UnspecifiedMatching OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:KCNRG semapv:UnspecifiedMatching OMIM:607947 KCNRG skos:exactMatch ncbigene:283518 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:PRSS50 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch ncbigene:29122 semapv:UnspecifiedMatching -OMIM:607951 CEP57 skos:exactMatch ncbigene:9702 semapv:UnspecifiedMatching OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:CEP57 semapv:UnspecifiedMatching -OMIM:607952 SLC6A11 skos:exactMatch ncbigene:6538 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch ncbigene:9702 semapv:UnspecifiedMatching OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:SLC6A11 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch UMLS:C1539921 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:TAGLN3 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch ncbigene:6538 semapv:UnspecifiedMatching OMIM:607953 TAGLN3 skos:exactMatch ncbigene:29114 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:TAGLN3 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch UMLS:C1539921 semapv:UnspecifiedMatching OMIM:607954 RANGRF skos:exactMatch UMLS:C1842760 semapv:UnspecifiedMatching OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:RANGRF semapv:UnspecifiedMatching OMIM:607954 RANGRF skos:exactMatch ncbigene:29098 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:SASH1 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch UMLS:C5193062 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch ncbigene:23328 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch UMLS:C1426071 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch UMLS:C2675711 semapv:UnspecifiedMatching -OMIM:607956 MED8 skos:exactMatch hgnc.symbol:MED8 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch UMLS:C5193062 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:SASH1 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch ncbigene:23328 semapv:UnspecifiedMatching OMIM:607956 MED8 skos:exactMatch ncbigene:112950 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch hgnc.symbol:MED8 semapv:UnspecifiedMatching OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:CAMK1D semapv:UnspecifiedMatching OMIM:607957 CAMK1D skos:exactMatch ncbigene:57118 semapv:UnspecifiedMatching OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:STXBP6 semapv:UnspecifiedMatching OMIM:607958 STXBP6 skos:exactMatch ncbigene:29091 semapv:UnspecifiedMatching -OMIM:607959 SLC7A10 skos:exactMatch ncbigene:56301 semapv:UnspecifiedMatching OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:SLC7A10 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch UMLS:C1424503 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch ncbigene:56301 semapv:UnspecifiedMatching OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:DHX32 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch UMLS:C1424503 semapv:UnspecifiedMatching OMIM:607960 DHX32 skos:exactMatch ncbigene:55760 semapv:UnspecifiedMatching -OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:SEMA7A semapv:UnspecifiedMatching OMIM:607961 SEMA7A skos:exactMatch ncbigene:8482 semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:SEMA7A semapv:UnspecifiedMatching OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:MIR23A semapv:UnspecifiedMatching OMIM:607962 MIR23A skos:exactMatch ncbigene:407010 semapv:UnspecifiedMatching OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:MBD3L1 semapv:UnspecifiedMatching OMIM:607963 MBD3L1 skos:exactMatch ncbigene:85509 semapv:UnspecifiedMatching -OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:MBD3L2 semapv:UnspecifiedMatching -OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch ncbigene:27241 semapv:UnspecifiedMatching -OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:CLK4 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching OMIM:607969 CLK4 skos:exactMatch ncbigene:57396 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:CLK4 semapv:UnspecifiedMatching OMIM:607970 GPR135 skos:exactMatch UMLS:C1426588 semapv:UnspecifiedMatching OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:GPR135 semapv:UnspecifiedMatching OMIM:607970 GPR135 skos:exactMatch ncbigene:64582 semapv:UnspecifiedMatching -OMIM:607971 SLC6A15 skos:exactMatch ncbigene:55117 semapv:UnspecifiedMatching OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:SLC6A15 semapv:UnspecifiedMatching -OMIM:607972 SLC6A16 skos:exactMatch ncbigene:28968 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch ncbigene:55117 semapv:UnspecifiedMatching OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:SLC6A16 semapv:UnspecifiedMatching -OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:NETO1 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch ncbigene:28968 semapv:UnspecifiedMatching OMIM:607973 NETO1 skos:exactMatch ncbigene:81832 semapv:UnspecifiedMatching -OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:NETO2 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:NETO1 semapv:UnspecifiedMatching OMIM:607974 NETO2 skos:exactMatch ncbigene:81831 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:NETO2 semapv:UnspecifiedMatching OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:OSGIN1 semapv:UnspecifiedMatching OMIM:607975 OSGIN1 skos:exactMatch ncbigene:29948 semapv:UnspecifiedMatching OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:COX4I2 semapv:UnspecifiedMatching OMIM:607976 COX4I2 skos:exactMatch ncbigene:84701 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch ncbigene:51696 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch hgnc.symbol:HECA semapv:UnspecifiedMatching OMIM:607977 HECA skos:exactMatch UMLS:C1427267 semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch hgnc.symbol:HECA semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch ncbigene:51696 semapv:UnspecifiedMatching OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:SAMSN1 semapv:UnspecifiedMatching OMIM:607978 SAMSN1 skos:exactMatch ncbigene:64092 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch UMLS:C1422627 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch hgnc.symbol:SERHL semapv:UnspecifiedMatching OMIM:607979 SERHL skos:exactMatch ncbigene:94009 semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch hgnc.symbol:SERHL semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch UMLS:C1422627 semapv:UnspecifiedMatching OMIM:607980 TOMM7 skos:exactMatch UMLS:C1427672 semapv:UnspecifiedMatching OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:TOMM7 semapv:UnspecifiedMatching OMIM:607980 TOMM7 skos:exactMatch ncbigene:54543 semapv:UnspecifiedMatching -OMIM:607981 NUB1 skos:exactMatch ncbigene:51667 semapv:UnspecifiedMatching OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:NUB1 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch ncbigene:51667 semapv:UnspecifiedMatching OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:SCYL1 semapv:UnspecifiedMatching OMIM:607982 SCYL1 skos:exactMatch ncbigene:57410 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch ncbigene:92344 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch hgnc.symbol:GORAB semapv:UnspecifiedMatching OMIM:607983 GORAB skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching OMIM:607983 GORAB skos:exactMatch UMLS:C1822658 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch hgnc.symbol:GORAB semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch ncbigene:92344 semapv:UnspecifiedMatching -OMIM:607984 SPRY4 skos:exactMatch ncbigene:81848 semapv:UnspecifiedMatching OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:SPRY4 semapv:UnspecifiedMatching -OMIM:607985 NAGPA skos:exactMatch ncbigene:51172 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch ncbigene:81848 semapv:UnspecifiedMatching OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:NAGPA semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch ncbigene:51172 semapv:UnspecifiedMatching OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:S100A14 semapv:UnspecifiedMatching OMIM:607986 S100A14 skos:exactMatch ncbigene:57402 semapv:UnspecifiedMatching -OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:DNAJC10 semapv:UnspecifiedMatching OMIM:607987 DNAJC10 skos:exactMatch ncbigene:54431 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:DNAJC10 semapv:UnspecifiedMatching OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:SPOCK2 semapv:UnspecifiedMatching OMIM:607988 SPOCK2 skos:exactMatch ncbigene:9806 semapv:UnspecifiedMatching OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:SPOCK3 semapv:UnspecifiedMatching OMIM:607989 SPOCK3 skos:exactMatch ncbigene:50859 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:UHRF1 semapv:UnspecifiedMatching OMIM:607990 UHRF1 skos:exactMatch ncbigene:29128 semapv:UnspecifiedMatching OMIM:607990 UHRF1 skos:exactMatch UMLS:C1421348 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:UHRF1 semapv:UnspecifiedMatching -OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:SLC8A3 semapv:UnspecifiedMatching OMIM:607991 SLC8A3 skos:exactMatch ncbigene:6547 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:SLC8A3 semapv:UnspecifiedMatching OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:SUGP1 semapv:UnspecifiedMatching OMIM:607992 SUGP1 skos:exactMatch ncbigene:57794 semapv:UnspecifiedMatching OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:SUGP2 semapv:UnspecifiedMatching OMIM:607993 SUGP2 skos:exactMatch ncbigene:10147 semapv:UnspecifiedMatching -OMIM:607994 XRN1 skos:exactMatch ncbigene:54464 semapv:UnspecifiedMatching OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:XRN1 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch ncbigene:54464 semapv:UnspecifiedMatching OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:UNC93A semapv:UnspecifiedMatching OMIM:607995 UNC93A skos:exactMatch ncbigene:54346 semapv:UnspecifiedMatching -OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:NPB semapv:UnspecifiedMatching OMIM:607996 preproneuropeptide B skos:exactMatch ncbigene:256933 semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:NPB semapv:UnspecifiedMatching OMIM:607997 NPW skos:exactMatch hgnc.symbol:NPW semapv:UnspecifiedMatching OMIM:607997 NPW skos:exactMatch ncbigene:283869 semapv:UnspecifiedMatching -OMIM:607998 TPP1 skos:exactMatch ncbigene:1200 semapv:UnspecifiedMatching OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:TPP1 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch ncbigene:1200 semapv:UnspecifiedMatching OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:ASH1L semapv:UnspecifiedMatching OMIM:607999 ASH1L skos:exactMatch ncbigene:55870 semapv:UnspecifiedMatching OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:NAA15 semapv:UnspecifiedMatching OMIM:608000 NAA15 skos:exactMatch ncbigene:80155 semapv:UnspecifiedMatching -OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:NPHP3 semapv:UnspecifiedMatching OMIM:608002 NPHP3 skos:exactMatch ncbigene:27031 semapv:UnspecifiedMatching -OMIM:608003 HIPK1 skos:exactMatch ncbigene:204851 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:NPHP3 semapv:UnspecifiedMatching OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:HIPK1 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch ncbigene:64332 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:NFKBIZ semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch ncbigene:204851 semapv:UnspecifiedMatching OMIM:608004 NFKBIZ skos:exactMatch UMLS:C1538057 semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:NFKBIZ semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch ncbigene:64332 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch ncbigene:64374 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:SIL1 semapv:UnspecifiedMatching OMIM:608005 SIL1 skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching OMIM:608005 SIL1 skos:exactMatch UMLS:C1822725 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:SIL1 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch ncbigene:64374 semapv:UnspecifiedMatching OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:LMOD2 semapv:UnspecifiedMatching OMIM:608006 LMOD2 skos:exactMatch ncbigene:442721 semapv:UnspecifiedMatching -OMIM:608007 PLEK2 skos:exactMatch ncbigene:26499 semapv:UnspecifiedMatching OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:PLEK2 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch ncbigene:26499 semapv:UnspecifiedMatching OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:ANXA10 semapv:UnspecifiedMatching OMIM:608008 ANXA10 skos:exactMatch ncbigene:11199 semapv:UnspecifiedMatching OMIM:608009 AK5 skos:exactMatch hgnc.symbol:AK5 semapv:UnspecifiedMatching OMIM:608009 AK5 skos:exactMatch ncbigene:26289 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch ncbigene:29881 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:NPC1L1 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1417777 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1842722 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch UMLS:C4693795 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch ncbigene:29881 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1842722 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1417777 semapv:UnspecifiedMatching OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:GNL3 semapv:UnspecifiedMatching OMIM:608011 GNL3 skos:exactMatch ncbigene:26354 semapv:UnspecifiedMatching OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:PDIA2 semapv:UnspecifiedMatching OMIM:608012 PDIA2 skos:exactMatch ncbigene:64714 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch ncbigene:26353 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:HSPB8 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch UMLS:C1428937 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching OMIM:608015 TSKU skos:exactMatch hgnc.symbol:TSKU semapv:UnspecifiedMatching OMIM:608015 TSKU skos:exactMatch ncbigene:25987 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch ncbigene:51287 semapv:UnspecifiedMatching OMIM:608016 COA4 skos:exactMatch UMLS:C1824732 semapv:UnspecifiedMatching OMIM:608016 COA4 skos:exactMatch hgnc.symbol:COA4 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch ncbigene:51287 semapv:UnspecifiedMatching -OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:FAM162A semapv:UnspecifiedMatching OMIM:608017 FAM162A skos:exactMatch ncbigene:26355 semapv:UnspecifiedMatching -OMIM:608018 PRSS27 skos:exactMatch ncbigene:83886 semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:FAM162A semapv:UnspecifiedMatching OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:PRSS27 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch ncbigene:83886 semapv:UnspecifiedMatching OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:TNIP3 semapv:UnspecifiedMatching OMIM:608019 TNIP3 skos:exactMatch ncbigene:79931 semapv:UnspecifiedMatching OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:NUCB2 semapv:UnspecifiedMatching @@ -24586,18 +24590,18 @@ OMIM:608021 WFIKKN1 skos:exactMatch ncbigene:117166 semapv:UnspecifiedMatching OMIM:608023 DDX56 skos:exactMatch ncbigene:54606 semapv:UnspecifiedMatching OMIM:608023 DDX56 skos:exactMatch UMLS:C1425370 semapv:UnspecifiedMatching OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:DDX56 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch ncbigene:10455 semapv:UnspecifiedMatching OMIM:608024 ECI2 skos:exactMatch UMLS:C1422782 semapv:UnspecifiedMatching OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:ECI2 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch ncbigene:10455 semapv:UnspecifiedMatching OMIM:608025 NBAS skos:exactMatch hgnc.symbol:NBAS semapv:UnspecifiedMatching OMIM:608025 NBAS skos:exactMatch ncbigene:51594 semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch hgnc.symbol:ASPA semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch ncbigene:443 semapv:UnspecifiedMatching OMIM:608036 iia 2 diabetes mellitus 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching -OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching OMIM:608037 CHPF2 skos:exactMatch ncbigene:54480 semapv:UnspecifiedMatching -OMIM:608038 PAK5 skos:exactMatch ncbigene:57144 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:PAK5 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch ncbigene:57144 semapv:UnspecifiedMatching OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:SPATA9 semapv:UnspecifiedMatching OMIM:608039 SPATA9 skos:exactMatch ncbigene:83890 semapv:UnspecifiedMatching OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:IFT74 semapv:UnspecifiedMatching @@ -24606,8 +24610,8 @@ OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:ANTXR2 semapv:UnspecifiedMatching OMIM:608041 ANTXR2 skos:exactMatch ncbigene:118429 semapv:UnspecifiedMatching OMIM:608042 SYTL1 skos:exactMatch ncbigene:84958 semapv:UnspecifiedMatching OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:SYTL1 semapv:UnspecifiedMatching -OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:GALNT10 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:SLC5A8 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch ncbigene:160728 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch UMLS:C1539907 semapv:UnspecifiedMatching @@ -24615,30 +24619,30 @@ OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:SYVN1 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch ncbigene:84447 semapv:UnspecifiedMatching OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:UBE3B semapv:UnspecifiedMatching OMIM:608047 UBE3B skos:exactMatch ncbigene:89910 semapv:UnspecifiedMatching -OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching OMIM:608048 SHPRH skos:exactMatch ncbigene:257218 semapv:UnspecifiedMatching -OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:TOR1B semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:TOR2A semapv:UnspecifiedMatching OMIM:608052 TOR2A skos:exactMatch ncbigene:27433 semapv:UnspecifiedMatching OMIM:608053 ETFA skos:exactMatch hgnc.symbol:ETFA semapv:UnspecifiedMatching OMIM:608053 ETFA skos:exactMatch ncbigene:2108 semapv:UnspecifiedMatching -OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:CYP2A7 semapv:UnspecifiedMatching OMIM:608054 CYP2A7 skos:exactMatch ncbigene:1549 semapv:UnspecifiedMatching -OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:CYP2A13 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:CYP2A7 semapv:UnspecifiedMatching OMIM:608055 CYP2A13 skos:exactMatch ncbigene:1553 semapv:UnspecifiedMatching -OMIM:608057 DNASE2B skos:exactMatch ncbigene:58511 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:CYP2A13 semapv:UnspecifiedMatching OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:DNASE2B semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch ncbigene:58511 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch ncbigene:57818 semapv:UnspecifiedMatching OMIM:608058 G6PC2 skos:exactMatch UMLS:C1428751 semapv:UnspecifiedMatching OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:G6PC2 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch ncbigene:57818 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch UMLS:C1423880 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch UMLS:C4017128 semapv:UnspecifiedMatching OMIM:608059 HES7 skos:exactMatch hgnc.symbol:HES7 semapv:UnspecifiedMatching OMIM:608059 HES7 skos:exactMatch ncbigene:84667 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch hgnc.symbol:HES4 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch UMLS:C1423880 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch UMLS:C4017128 semapv:UnspecifiedMatching OMIM:608060 HES4 skos:exactMatch ncbigene:57801 semapv:UnspecifiedMatching OMIM:608060 HES4 skos:exactMatch UMLS:C1539667 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch hgnc.symbol:HES4 semapv:UnspecifiedMatching OMIM:608061 TOMM40 skos:exactMatch UMLS:C1425229 semapv:UnspecifiedMatching OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:TOMM40 semapv:UnspecifiedMatching OMIM:608061 TOMM40 skos:exactMatch ncbigene:10452 semapv:UnspecifiedMatching @@ -24647,8 +24651,8 @@ OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:DCDC1 semapv:UnspecifiedMatching OMIM:608062 DCDC1 skos:exactMatch ncbigene:341019 semapv:UnspecifiedMatching OMIM:608064 KLHL5 skos:exactMatch ncbigene:51088 semapv:UnspecifiedMatching OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:KLHL5 semapv:UnspecifiedMatching -OMIM:608065 SLC38A4 skos:exactMatch ncbigene:55089 semapv:UnspecifiedMatching OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:SLC38A4 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch ncbigene:55089 semapv:UnspecifiedMatching OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:SAFB2 semapv:UnspecifiedMatching OMIM:608066 SAFB2 skos:exactMatch ncbigene:9667 semapv:UnspecifiedMatching OMIM:608067 RFWD2 skos:exactMatch UMLS:C1538830 semapv:UnspecifiedMatching @@ -24656,110 +24660,110 @@ OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:COP1 semapv:UnspecifiedMatching OMIM:608067 RFWD2 skos:exactMatch ncbigene:64326 semapv:UnspecifiedMatching OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching -OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:ERRFI1 semapv:UnspecifiedMatching OMIM:608069 ERRFI1 skos:exactMatch ncbigene:54206 semapv:UnspecifiedMatching -OMIM:608070 HERPUD1 skos:exactMatch ncbigene:9709 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:ERRFI1 semapv:UnspecifiedMatching OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:HERPUD1 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch ncbigene:9709 semapv:UnspecifiedMatching OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:FBXW4 semapv:UnspecifiedMatching OMIM:608071 FBXW4 skos:exactMatch ncbigene:6468 semapv:UnspecifiedMatching OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:NHLRC1 semapv:UnspecifiedMatching OMIM:608072 NHLRC1 skos:exactMatch ncbigene:378884 semapv:UnspecifiedMatching -OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:NPM2 semapv:UnspecifiedMatching OMIM:608073 NPM2 skos:exactMatch ncbigene:10361 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:NPM2 semapv:UnspecifiedMatching OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:PDCD6IP semapv:UnspecifiedMatching OMIM:608074 PDCD6IP skos:exactMatch ncbigene:10015 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch ncbigene:89869 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:PLCZ1 semapv:UnspecifiedMatching OMIM:608075 PLCZ1 skos:exactMatch UMLS:C1426095 semapv:UnspecifiedMatching OMIM:608075 PLCZ1 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:PLCZ1 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch ncbigene:89869 semapv:UnspecifiedMatching OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:TNK1 semapv:UnspecifiedMatching OMIM:608076 TNK1 skos:exactMatch ncbigene:8711 semapv:UnspecifiedMatching -OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching OMIM:608077 P2RXL1 skos:exactMatch ncbigene:9127 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch ncbigene:55520 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch UMLS:C1422479 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching OMIM:608080 MRO skos:exactMatch hgnc.symbol:MRO semapv:UnspecifiedMatching OMIM:608080 MRO skos:exactMatch ncbigene:83876 semapv:UnspecifiedMatching -OMIM:608081 SYT15 skos:exactMatch ncbigene:83849 semapv:UnspecifiedMatching OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:SYT15 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch ncbigene:83849 semapv:UnspecifiedMatching OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:YPEL1 semapv:UnspecifiedMatching OMIM:608082 YPEL1 skos:exactMatch ncbigene:29799 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017136 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017137 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch ncbigene:344 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:APOC2 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017138 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017137 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017136 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017135 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:APOC2 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch ncbigene:344 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017139 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017134 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017129 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017139 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017132 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017131 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017130 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017133 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017129 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C3889891 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017133 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C1412477 semapv:UnspecifiedMatching OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:GIMAP1 semapv:UnspecifiedMatching OMIM:608084 GIMAP1 skos:exactMatch ncbigene:170575 semapv:UnspecifiedMatching OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:GIMAP2 semapv:UnspecifiedMatching OMIM:608085 GIMAP2 skos:exactMatch ncbigene:26157 semapv:UnspecifiedMatching -OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:GIMAP5 semapv:UnspecifiedMatching OMIM:608086 GIMAP5 skos:exactMatch ncbigene:55340 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:GIMAP5 semapv:UnspecifiedMatching OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:GIMAP4 semapv:UnspecifiedMatching OMIM:608087 GIMAP4 skos:exactMatch ncbigene:55303 semapv:UnspecifiedMatching OMIM:608089 endometrial cancer skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:608090 MLXIP skos:exactMatch ncbigene:22877 semapv:UnspecifiedMatching OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:MLXIP semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch ncbigene:22877 semapv:UnspecifiedMatching OMIM:608092 PALLD skos:exactMatch hgnc.symbol:PALLD semapv:UnspecifiedMatching OMIM:608092 PALLD skos:exactMatch ncbigene:23022 semapv:UnspecifiedMatching OMIM:608094 SLC37A1 skos:exactMatch UMLS:C1420190 semapv:UnspecifiedMatching OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:SLC37A1 semapv:UnspecifiedMatching OMIM:608094 SLC37A1 skos:exactMatch ncbigene:54020 semapv:UnspecifiedMatching -OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching OMIM:608095 SCNM1 skos:exactMatch ncbigene:79005 semapv:UnspecifiedMatching -OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching OMIM:608100 NFU1 skos:exactMatch ncbigene:27247 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:H1-9P semapv:UnspecifiedMatching OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch ncbigene:373861 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch UMLS:C1413497 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:CLN5 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch ncbigene:1203 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch ncbigene:79053 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C4694014 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:ALG8 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C1427957 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C4694013 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C1417104 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C4694014 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:ALG8 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch ncbigene:79053 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch hgnc.symbol:MEFV semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch ncbigene:4210 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C1417104 semapv:UnspecifiedMatching OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:CFDP1 semapv:UnspecifiedMatching OMIM:608108 CFDP1 skos:exactMatch ncbigene:10428 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch ncbigene:80324 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:PUS1 semapv:UnspecifiedMatching OMIM:608109 PUS1 skos:exactMatch UMLS:C1423539 semapv:UnspecifiedMatching OMIM:608109 PUS1 skos:exactMatch UMLS:C4551958 semapv:UnspecifiedMatching -OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:PAK6 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:PUS1 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch ncbigene:80324 semapv:UnspecifiedMatching OMIM:608110 PAK6 skos:exactMatch ncbigene:56924 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:PAK6 semapv:UnspecifiedMatching OMIM:608111 FANCL skos:exactMatch hgnc.symbol:FANCL semapv:UnspecifiedMatching OMIM:608111 FANCL skos:exactMatch ncbigene:55120 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch ncbigene:22906 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:TRAK1 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching OMIM:608112 TRAK1 skos:exactMatch UMLS:C1823479 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:TRAK1 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch ncbigene:22906 semapv:UnspecifiedMatching OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:SGCZ semapv:UnspecifiedMatching OMIM:608113 SGCZ skos:exactMatch ncbigene:137868 semapv:UnspecifiedMatching OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:ADAP1 semapv:UnspecifiedMatching OMIM:608114 CENTA1 skos:exactMatch ncbigene:11033 semapv:UnspecifiedMatching -OMIM:608116 HHATL skos:exactMatch hgnc.symbol:HHATL semapv:UnspecifiedMatching OMIM:608116 HHATL skos:exactMatch ncbigene:57467 semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch hgnc.symbol:HHATL semapv:UnspecifiedMatching OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching @@ -24790,12 +24794,12 @@ OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:NUAK2 semapv:UnspecifiedMatching OMIM:608131 NUAK2 skos:exactMatch ncbigene:81788 semapv:UnspecifiedMatching OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:TTC8 semapv:UnspecifiedMatching OMIM:608132 TTC8 skos:exactMatch ncbigene:123016 semapv:UnspecifiedMatching -OMIM:608134 PALM skos:exactMatch hgnc.symbol:PALM semapv:UnspecifiedMatching OMIM:608134 PALM skos:exactMatch ncbigene:5064 semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch hgnc.symbol:PALM semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch ncbigene:54829 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch hgnc.symbol:ASPN semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch UMLS:C1423015 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch UMLS:C2675551 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch UMLS:C1423015 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch UMLS:C2675609 semapv:UnspecifiedMatching OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:ARHGEF10 semapv:UnspecifiedMatching OMIM:608136 ARHGEF10 skos:exactMatch ncbigene:9639 semapv:UnspecifiedMatching @@ -24804,29 +24808,29 @@ OMIM:608137 NSMF skos:exactMatch UMLS:C4017143 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch ncbigene:26012 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch UMLS:C1428897 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch UMLS:C4017142 semapv:UnspecifiedMatching -OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:PDCD7 semapv:UnspecifiedMatching OMIM:608138 PDCD7 skos:exactMatch ncbigene:10081 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:PDCD7 semapv:UnspecifiedMatching OMIM:608139 CENPV skos:exactMatch hgnc.symbol:CENPV semapv:UnspecifiedMatching OMIM:608139 CENPV skos:exactMatch ncbigene:201161 semapv:UnspecifiedMatching OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:NUP35 semapv:UnspecifiedMatching OMIM:608140 NUP35 skos:exactMatch ncbigene:129401 semapv:UnspecifiedMatching -OMIM:608141 NUP43 skos:exactMatch ncbigene:348995 semapv:UnspecifiedMatching OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:NUP43 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch ncbigene:150274 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch hgnc.symbol:HSCB semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch ncbigene:348995 semapv:UnspecifiedMatching OMIM:608142 HSCB skos:exactMatch UMLS:C1825526 semapv:UnspecifiedMatching -OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:GPAT4 semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch hgnc.symbol:HSCB semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch ncbigene:150274 semapv:UnspecifiedMatching OMIM:608143 AGPAT6 skos:exactMatch ncbigene:137964 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:GPAT4 semapv:UnspecifiedMatching OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:SPDEF semapv:UnspecifiedMatching OMIM:608144 SPDEF skos:exactMatch ncbigene:25803 semapv:UnspecifiedMatching OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:NIPA1 semapv:UnspecifiedMatching OMIM:608145 NIPA1 skos:exactMatch ncbigene:123606 semapv:UnspecifiedMatching OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:NIPA2 semapv:UnspecifiedMatching OMIM:608146 NIPA2 skos:exactMatch ncbigene:81614 semapv:UnspecifiedMatching -OMIM:608147 TUBGCP5 skos:exactMatch ncbigene:114791 semapv:UnspecifiedMatching OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:TUBGCP5 semapv:UnspecifiedMatching -OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:SATB2 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch ncbigene:114791 semapv:UnspecifiedMatching OMIM:608148 SATB2 skos:exactMatch ncbigene:23314 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:SATB2 semapv:UnspecifiedMatching OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:PPHLN1 semapv:UnspecifiedMatching OMIM:608150 PPHLN1 skos:exactMatch ncbigene:51535 semapv:UnspecifiedMatching OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:WDR19 semapv:UnspecifiedMatching @@ -24841,20 +24845,20 @@ OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:SLC25A2 semapv:UnspecifiedMatchi OMIM:608157 SLC25A2 skos:exactMatch ncbigene:83884 semapv:UnspecifiedMatching OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:PRSS21 semapv:UnspecifiedMatching OMIM:608159 PRSS21 skos:exactMatch ncbigene:10942 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1420331 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1842462 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1861923 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C3549544 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4723824 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C4747386 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C4747387 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:SOX9 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4723824 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch ncbigene:6662 semapv:UnspecifiedMatching -OMIM:608162 VTCN1 skos:exactMatch ncbigene:79679 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:SOX9 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1861923 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1842462 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1420331 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C3549544 semapv:UnspecifiedMatching OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:VTCN1 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch ncbigene:79679 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch ncbigene:23265 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:EXOC7 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch UMLS:C1427993 semapv:UnspecifiedMatching @@ -24867,89 +24871,89 @@ OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:SEMA3E semapv:UnspecifiedMatching OMIM:608166 SEMA3E skos:exactMatch ncbigene:9723 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch ncbigene:57582 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:KCNT1 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch UMLS:C1425836 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554306 semapv:UnspecifiedMatching OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:KCNH6 semapv:UnspecifiedMatching OMIM:608168 KCNH6 skos:exactMatch ncbigene:81033 semapv:UnspecifiedMatching OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:KCNH7 semapv:UnspecifiedMatching OMIM:608169 KCNH7 skos:exactMatch ncbigene:90134 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch ncbigene:51428 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:DDX41 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch UMLS:C4225520 semapv:UnspecifiedMatching OMIM:608170 DDX41 skos:exactMatch UMLS:C1425698 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch UMLS:C4225520 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:DDX41 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch ncbigene:51428 semapv:UnspecifiedMatching OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:CACNA2D4 semapv:UnspecifiedMatching OMIM:608171 CACNA2D4 skos:exactMatch ncbigene:93589 semapv:UnspecifiedMatching OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:DHDDS semapv:UnspecifiedMatching OMIM:608172 DHDDS skos:exactMatch ncbigene:79947 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch ncbigene:2131 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:EXT1 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C4017146 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:EXT1 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0694878 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:LUZP2 semapv:UnspecifiedMatching OMIM:608178 LUZP2 skos:exactMatch ncbigene:338645 semapv:UnspecifiedMatching OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:ATCAY semapv:UnspecifiedMatching OMIM:608179 ATCAY skos:exactMatch ncbigene:85300 semapv:UnspecifiedMatching OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:SPG21 semapv:UnspecifiedMatching OMIM:608181 ACP33 skos:exactMatch ncbigene:51324 semapv:UnspecifiedMatching -OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:KCNIP4 semapv:UnspecifiedMatching OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch ncbigene:80333 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch ncbigene:22856 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:CHSY1 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:KCNIP4 semapv:UnspecifiedMatching OMIM:608183 CHSY1 skos:exactMatch UMLS:C1424814 semapv:UnspecifiedMatching OMIM:608183 CHSY1 skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:CHSY1 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch ncbigene:22856 semapv:UnspecifiedMatching OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:EXOC4 semapv:UnspecifiedMatching OMIM:608185 EXOC4 skos:exactMatch ncbigene:60412 semapv:UnspecifiedMatching OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:EXOC3 semapv:UnspecifiedMatching OMIM:608186 EXOC3 skos:exactMatch ncbigene:11336 semapv:UnspecifiedMatching -OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:MCM8 semapv:UnspecifiedMatching OMIM:608187 MCM8 skos:exactMatch ncbigene:84515 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:MCM8 semapv:UnspecifiedMatching OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:CRLS1 semapv:UnspecifiedMatching OMIM:608188 CRLS1 skos:exactMatch ncbigene:54675 semapv:UnspecifiedMatching -OMIM:608190 NAT8B skos:exactMatch ncbigene:51471 semapv:UnspecifiedMatching OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:NAT8B semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch ncbigene:51471 semapv:UnspecifiedMatching OMIM:608191 RBAK skos:exactMatch UMLS:C1826772 semapv:UnspecifiedMatching OMIM:608191 RBAK skos:exactMatch hgnc.symbol:RBAK semapv:UnspecifiedMatching OMIM:608191 RBAK skos:exactMatch ncbigene:57786 semapv:UnspecifiedMatching OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:SCYL3 semapv:UnspecifiedMatching OMIM:608192 SCYL3 skos:exactMatch ncbigene:57147 semapv:UnspecifiedMatching -OMIM:608193 REC8 skos:exactMatch hgnc.symbol:REC8 semapv:UnspecifiedMatching OMIM:608193 REC8 skos:exactMatch ncbigene:9985 semapv:UnspecifiedMatching -OMIM:608195 LRRC1 skos:exactMatch ncbigene:55227 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch hgnc.symbol:REC8 semapv:UnspecifiedMatching OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:LRRC1 semapv:UnspecifiedMatching -OMIM:608196 WRNIP1 skos:exactMatch ncbigene:56897 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch ncbigene:55227 semapv:UnspecifiedMatching OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:WRNIP1 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch ncbigene:56897 semapv:UnspecifiedMatching OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:PGLYRP3 semapv:UnspecifiedMatching OMIM:608197 PGLYRP3 skos:exactMatch ncbigene:114771 semapv:UnspecifiedMatching OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:PGLYRP4 semapv:UnspecifiedMatching OMIM:608198 PGLYRP4 skos:exactMatch ncbigene:57115 semapv:UnspecifiedMatching -OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:PGLYRP2 semapv:UnspecifiedMatching OMIM:608199 PGLYRP2 skos:exactMatch ncbigene:114770 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:PGLYRP2 semapv:UnspecifiedMatching OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:CDK5RAP1 semapv:UnspecifiedMatching OMIM:608200 CDK5RAP1 skos:exactMatch ncbigene:51654 semapv:UnspecifiedMatching -OMIM:608201 CDK5RAP2 skos:exactMatch ncbigene:55755 semapv:UnspecifiedMatching OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:CDK5RAP2 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch ncbigene:55755 semapv:UnspecifiedMatching OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:CDK5RAP3 semapv:UnspecifiedMatching OMIM:608202 CDK5RAP3 skos:exactMatch ncbigene:80279 semapv:UnspecifiedMatching OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching OMIM:608204 UNC93B1 skos:exactMatch ncbigene:81622 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch UMLS:C1422014 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:UNC93B1 semapv:UnspecifiedMatching -OMIM:608205 MECR skos:exactMatch ncbigene:51102 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch UMLS:C1422014 semapv:UnspecifiedMatching OMIM:608205 MECR skos:exactMatch hgnc.symbol:MECR semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch ncbigene:51102 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1539765 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:SH3TC2 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch ncbigene:79628 semapv:UnspecifiedMatching -OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching OMIM:608208 MARCHF4 skos:exactMatch ncbigene:57574 semapv:UnspecifiedMatching -OMIM:608209 DPP10 skos:exactMatch ncbigene:57628 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:DPP10 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch ncbigene:57628 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C0694879 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C4225248 semapv:UnspecifiedMatching @@ -24958,97 +24962,97 @@ OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:EXT2 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch ncbigene:2132 semapv:UnspecifiedMatching OMIM:608211 KAAG1 skos:exactMatch ncbigene:353219 semapv:UnspecifiedMatching OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:KAAG1 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch ncbigene:345611 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch hgnc.symbol:IRGM semapv:UnspecifiedMatching OMIM:608212 IRGM skos:exactMatch UMLS:C1537424 semapv:UnspecifiedMatching OMIM:608212 IRGM skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch hgnc.symbol:IRGM semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch ncbigene:345611 semapv:UnspecifiedMatching OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:CEND1 semapv:UnspecifiedMatching OMIM:608213 CEND1 skos:exactMatch ncbigene:51286 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:SCN3B semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch ncbigene:55800 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C4017659 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C1427065 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C1427065 semapv:UnspecifiedMatching OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:LHX6 semapv:UnspecifiedMatching OMIM:608215 LHX6 skos:exactMatch ncbigene:26468 semapv:UnspecifiedMatching OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:COMMD5 semapv:UnspecifiedMatching OMIM:608216 COMMD5 skos:exactMatch ncbigene:28991 semapv:UnspecifiedMatching -OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching OMIM:608218 KRT20 skos:exactMatch ncbigene:54474 semapv:UnspecifiedMatching -OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching OMIM:608221 MASTL skos:exactMatch hgnc.symbol:MASTL semapv:UnspecifiedMatching -OMIM:608222 ADSL skos:exactMatch ncbigene:158 semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching OMIM:608222 ADSL skos:exactMatch hgnc.symbol:ADSL semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch ncbigene:158 semapv:UnspecifiedMatching OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:GALNT14 semapv:UnspecifiedMatching OMIM:608225 GALNT14 skos:exactMatch ncbigene:79623 semapv:UnspecifiedMatching OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:NANOS1 semapv:UnspecifiedMatching OMIM:608226 NANOS1 skos:exactMatch ncbigene:340719 semapv:UnspecifiedMatching -OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:NANOS2 semapv:UnspecifiedMatching OMIM:608228 NANOS2 skos:exactMatch ncbigene:339345 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:NANOS2 semapv:UnspecifiedMatching OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:NANOS3 semapv:UnspecifiedMatching OMIM:608229 NANOS3 skos:exactMatch ncbigene:342977 semapv:UnspecifiedMatching -OMIM:608230 CACNA1I skos:exactMatch ncbigene:8911 semapv:UnspecifiedMatching OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:CACNA1I semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch ncbigene:8911 semapv:UnspecifiedMatching OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:RASSF8 semapv:UnspecifiedMatching OMIM:608231 RASSF8 skos:exactMatch ncbigene:11228 semapv:UnspecifiedMatching -OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:GAL3ST3 semapv:UnspecifiedMatching OMIM:608234 GAL3ST3 skos:exactMatch ncbigene:89792 semapv:UnspecifiedMatching -OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:GAL3ST4 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:GAL3ST3 semapv:UnspecifiedMatching OMIM:608235 GAL3ST4 skos:exactMatch ncbigene:79690 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:GAL3ST4 semapv:UnspecifiedMatching OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:GAL3ST2 semapv:UnspecifiedMatching OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching -OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch ncbigene:121665 semapv:UnspecifiedMatching -OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:SNIP1 semapv:UnspecifiedMatching OMIM:608241 SNIP1 skos:exactMatch ncbigene:79753 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:SNIP1 semapv:UnspecifiedMatching OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:HERC5 semapv:UnspecifiedMatching OMIM:608242 HERC5 skos:exactMatch ncbigene:51191 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch UMLS:C1417615 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:KRT71 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch ncbigene:112802 semapv:UnspecifiedMatching -OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:KRT72 semapv:UnspecifiedMatching OMIM:608246 KRT72 skos:exactMatch ncbigene:140807 semapv:UnspecifiedMatching -OMIM:608247 KRT73 skos:exactMatch ncbigene:319101 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:KRT72 semapv:UnspecifiedMatching OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:KRT73 semapv:UnspecifiedMatching -OMIM:608248 KRT74 skos:exactMatch ncbigene:121391 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch ncbigene:319101 semapv:UnspecifiedMatching OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:KRT74 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch ncbigene:121391 semapv:UnspecifiedMatching OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:CCNB1IP1 semapv:UnspecifiedMatching OMIM:608249 CCNB1IP1 skos:exactMatch ncbigene:57820 semapv:UnspecifiedMatching OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:SUDS3 semapv:UnspecifiedMatching OMIM:608250 SUDS3 skos:exactMatch ncbigene:64426 semapv:UnspecifiedMatching -OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching OMIM:608252 AFAP1 skos:exactMatch ncbigene:60312 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching OMIM:608253 TSKS skos:exactMatch hgnc.symbol:TSKS semapv:UnspecifiedMatching OMIM:608253 TSKS skos:exactMatch ncbigene:60385 semapv:UnspecifiedMatching -OMIM:608254 PAXIP1 skos:exactMatch ncbigene:22976 semapv:UnspecifiedMatching OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:PAXIP1 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch ncbigene:22976 semapv:UnspecifiedMatching OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:TRAF3IP3 semapv:UnspecifiedMatching OMIM:608255 TRAF3IP3 skos:exactMatch ncbigene:80342 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C1419863 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:SCN4B semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch ncbigene:6330 semapv:UnspecifiedMatching -OMIM:608258 DPP9 skos:exactMatch ncbigene:91039 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C1419863 semapv:UnspecifiedMatching OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:DPP9 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch ncbigene:10643 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch ncbigene:91039 semapv:UnspecifiedMatching OMIM:608259 IGF2BP3 skos:exactMatch UMLS:C1825578 semapv:UnspecifiedMatching OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:IGF2BP3 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch ncbigene:10643 semapv:UnspecifiedMatching OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:KCNH8 semapv:UnspecifiedMatching OMIM:608260 KCNH8 skos:exactMatch ncbigene:131096 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch UMLS:C1427927 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:SENP2 semapv:UnspecifiedMatching OMIM:608261 SENP2 skos:exactMatch ncbigene:59343 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:SENP2 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch UMLS:C1427927 semapv:UnspecifiedMatching OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:DIRC3 semapv:UnspecifiedMatching OMIM:608262 DIRC3 skos:exactMatch ncbigene:729582 semapv:UnspecifiedMatching OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:HSPBAP1 semapv:UnspecifiedMatching @@ -25059,39 +25063,39 @@ OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:RRAGD semapv:UnspecifiedMatching OMIM:608268 RRAGD skos:exactMatch ncbigene:58528 semapv:UnspecifiedMatching OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:SLC28A3 semapv:UnspecifiedMatching OMIM:608269 SLC28A3 skos:exactMatch ncbigene:64078 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch ncbigene:55617 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:TASP1 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608270 TASP1 skos:exactMatch UMLS:C1823228 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch UMLS:C1422134 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:TASP1 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch ncbigene:55617 semapv:UnspecifiedMatching OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:MACF1 semapv:UnspecifiedMatching OMIM:608271 MACF1 skos:exactMatch ncbigene:23499 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch UMLS:C1422134 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:NEU1 semapv:UnspecifiedMatching OMIM:608272 NEU1 skos:exactMatch ncbigene:4758 semapv:UnspecifiedMatching -OMIM:608273 IL27 skos:exactMatch ncbigene:246778 semapv:UnspecifiedMatching OMIM:608273 IL27 skos:exactMatch hgnc.symbol:IL27 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch ncbigene:246778 semapv:UnspecifiedMatching OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:PRMT6 semapv:UnspecifiedMatching OMIM:608274 PRMT6 skos:exactMatch ncbigene:55170 semapv:UnspecifiedMatching -OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:SLC22A15 semapv:UnspecifiedMatching OMIM:608275 SLC22A15 skos:exactMatch ncbigene:55356 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:SLC22A15 semapv:UnspecifiedMatching OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:SLC22A16 semapv:UnspecifiedMatching OMIM:608276 SLC22A16 skos:exactMatch ncbigene:85413 semapv:UnspecifiedMatching -OMIM:608277 CHST15 skos:exactMatch ncbigene:51363 semapv:UnspecifiedMatching OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:CHST15 semapv:UnspecifiedMatching -OMIM:608280 GAS5 skos:exactMatch ncbigene:60674 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch ncbigene:51363 semapv:UnspecifiedMatching OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:GAS5 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch ncbigene:60674 semapv:UnspecifiedMatching OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:TAAR9 semapv:UnspecifiedMatching OMIM:608282 TAAR9 skos:exactMatch ncbigene:134860 semapv:UnspecifiedMatching OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:KIF21A semapv:UnspecifiedMatching OMIM:608283 KIF21A skos:exactMatch ncbigene:55605 semapv:UnspecifiedMatching -OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:SPPL2C semapv:UnspecifiedMatching OMIM:608284 intramembrane protease 5 skos:exactMatch ncbigene:162540 semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:SPPL2C semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch ncbigene:55191 semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:NADSYN1 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch UMLS:C1826343 semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch UMLS:C1826343 semapv:UnspecifiedMatching OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:PCDH10 semapv:UnspecifiedMatching OMIM:608286 PCDH10 skos:exactMatch ncbigene:57575 semapv:UnspecifiedMatching OMIM:608287 PCDH18 skos:exactMatch UMLS:C1422528 semapv:UnspecifiedMatching @@ -25099,62 +25103,62 @@ OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:PCDH18 semapv:UnspecifiedMatching OMIM:608287 PCDH18 skos:exactMatch ncbigene:54510 semapv:UnspecifiedMatching OMIM:608288 IGF2BP1 skos:exactMatch ncbigene:10642 semapv:UnspecifiedMatching OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:IGF2BP1 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:IGF2BP2 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch ncbigene:10644 semapv:UnspecifiedMatching OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C1825577 semapv:UnspecifiedMatching OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:IGF2BP2 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch ncbigene:10644 semapv:UnspecifiedMatching OMIM:608291 TTL skos:exactMatch hgnc.symbol:TTL semapv:UnspecifiedMatching OMIM:608291 TTL skos:exactMatch ncbigene:150465 semapv:UnspecifiedMatching OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:STOML2 semapv:UnspecifiedMatching OMIM:608292 STOML2 skos:exactMatch ncbigene:30968 semapv:UnspecifiedMatching -OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:ARHGAP17 semapv:UnspecifiedMatching OMIM:608293 ARHGAP17 skos:exactMatch ncbigene:55114 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:ARHGAP17 semapv:UnspecifiedMatching OMIM:608294 NME6 skos:exactMatch hgnc.symbol:NME6 semapv:UnspecifiedMatching OMIM:608294 NME6 skos:exactMatch ncbigene:10201 semapv:UnspecifiedMatching -OMIM:608295 FAM107A skos:exactMatch ncbigene:11170 semapv:UnspecifiedMatching OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:FAM107A semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch ncbigene:11170 semapv:UnspecifiedMatching OMIM:608296 FIBP skos:exactMatch hgnc.symbol:FIBP semapv:UnspecifiedMatching OMIM:608296 FIBP skos:exactMatch ncbigene:9158 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch ncbigene:151887 semapv:UnspecifiedMatching OMIM:608298 CCDS80 skos:exactMatch UMLS:C1824605 semapv:UnspecifiedMatching OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:CCDC80 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch ncbigene:151887 semapv:UnspecifiedMatching OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:RNF34 semapv:UnspecifiedMatching OMIM:608299 RNF34 skos:exactMatch ncbigene:80196 semapv:UnspecifiedMatching OMIM:608300 NAGS skos:exactMatch hgnc.symbol:NAGS semapv:UnspecifiedMatching OMIM:608300 NAGS skos:exactMatch ncbigene:162417 semapv:UnspecifiedMatching -OMIM:608301 LGI2 skos:exactMatch ncbigene:55203 semapv:UnspecifiedMatching OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:LGI2 semapv:UnspecifiedMatching -OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:LGI3 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch ncbigene:55203 semapv:UnspecifiedMatching OMIM:608302 LGI3 skos:exactMatch ncbigene:203190 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch UMLS:C1425731 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:LGI4 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:LGI3 semapv:UnspecifiedMatching OMIM:608303 LGI4 skos:exactMatch ncbigene:163175 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:LGI4 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch UMLS:C1425731 semapv:UnspecifiedMatching OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:CAGE1 semapv:UnspecifiedMatching OMIM:608304 CTAG3 skos:exactMatch ncbigene:285782 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch ncbigene:284111 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:SLC13A5 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching OMIM:608305 SLC13A5 skos:exactMatch UMLS:C1427906 semapv:UnspecifiedMatching -OMIM:608306 SP8 skos:exactMatch hgnc.symbol:SP8 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:SLC13A5 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch ncbigene:284111 semapv:UnspecifiedMatching OMIM:608306 SP8 skos:exactMatch ncbigene:221833 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch hgnc.symbol:SP8 semapv:UnspecifiedMatching OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:CPS1 semapv:UnspecifiedMatching OMIM:608307 CPS1 skos:exactMatch ncbigene:1373 semapv:UnspecifiedMatching OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:ABTB1 semapv:UnspecifiedMatching OMIM:608308 ABTB1 skos:exactMatch ncbigene:80325 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch ncbigene:65018 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:PINK1 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch UMLS:C1422771 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch UMLS:C1853833 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch UMLS:C1970035 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch UMLS:C1422771 semapv:UnspecifiedMatching -OMIM:608310 ASL skos:exactMatch hgnc.symbol:ASL semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:PINK1 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch ncbigene:65018 semapv:UnspecifiedMatching OMIM:608310 ASL skos:exactMatch ncbigene:435 semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch hgnc.symbol:ASL semapv:UnspecifiedMatching OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:POLR2MP1 semapv:UnspecifiedMatching OMIM:608311 GRINL1B skos:exactMatch ncbigene:339970 semapv:UnspecifiedMatching OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:POLR1F semapv:UnspecifiedMatching OMIM:608312 POLR1F skos:exactMatch ncbigene:221830 semapv:UnspecifiedMatching -OMIM:608313 ARG1 skos:exactMatch ncbigene:383 semapv:UnspecifiedMatching OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:ARG1 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch ncbigene:383 semapv:UnspecifiedMatching OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:SEPTIN3 semapv:UnspecifiedMatching OMIM:608314 SEPT3 skos:exactMatch ncbigene:55964 semapv:UnspecifiedMatching OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:EAF1 semapv:UnspecifiedMatching @@ -25163,47 +25167,47 @@ OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:GRHL3 semapv:UnspecifiedMatching OMIM:608317 GRHL3 skos:exactMatch ncbigene:57822 semapv:UnspecifiedMatching OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:TICAM2 semapv:UnspecifiedMatching OMIM:608321 TICAM2 skos:exactMatch ncbigene:353376 semapv:UnspecifiedMatching -OMIM:608322 KIF21B skos:exactMatch ncbigene:23046 semapv:UnspecifiedMatching OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:KIF21B semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch ncbigene:23046 semapv:UnspecifiedMatching OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:SMIM3 semapv:UnspecifiedMatching OMIM:608324 SMIM3 skos:exactMatch ncbigene:85027 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch ncbigene:51317 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C1538635 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C5231537 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch UMLS:C5231538 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:PHF21A semapv:UnspecifiedMatching -OMIM:608326 STOML1 skos:exactMatch ncbigene:9399 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C1538635 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C5231537 semapv:UnspecifiedMatching OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:STOML1 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch ncbigene:9399 semapv:UnspecifiedMatching OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:STOML3 semapv:UnspecifiedMatching OMIM:608327 STOML3 skos:exactMatch ncbigene:161003 semapv:UnspecifiedMatching OMIM:608329 MYRF skos:exactMatch hgnc.symbol:MYRF semapv:UnspecifiedMatching OMIM:608329 MYRF skos:exactMatch ncbigene:745 semapv:UnspecifiedMatching OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:PRPF19 semapv:UnspecifiedMatching OMIM:608330 PRPF19 skos:exactMatch ncbigene:27339 semapv:UnspecifiedMatching -OMIM:608331 SLC36A2 skos:exactMatch ncbigene:153201 semapv:UnspecifiedMatching OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:SLC36A2 semapv:UnspecifiedMatching -OMIM:608332 SLC36A3 skos:exactMatch ncbigene:285641 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch ncbigene:153201 semapv:UnspecifiedMatching OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:SLC36A3 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch ncbigene:285641 semapv:UnspecifiedMatching OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:DOK4 semapv:UnspecifiedMatching OMIM:608333 DOK4 skos:exactMatch ncbigene:55715 semapv:UnspecifiedMatching OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:DOK5 semapv:UnspecifiedMatching OMIM:608334 DOK5 skos:exactMatch ncbigene:55816 semapv:UnspecifiedMatching -OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:PLEKHO1 semapv:UnspecifiedMatching OMIM:608335 PLEKHO1 skos:exactMatch ncbigene:51177 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:PLEKHO1 semapv:UnspecifiedMatching OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:TPRA1 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch ncbigene:131601 semapv:UnspecifiedMatching OMIM:608336 TPRA1 skos:exactMatch UMLS:C1539611 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch ncbigene:131601 semapv:UnspecifiedMatching OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:OTUB1 semapv:UnspecifiedMatching OMIM:608337 OTUB1 skos:exactMatch ncbigene:55611 semapv:UnspecifiedMatching OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:OTUB2 semapv:UnspecifiedMatching OMIM:608338 OTUB2 skos:exactMatch ncbigene:78990 semapv:UnspecifiedMatching OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:STXBP3 semapv:UnspecifiedMatching OMIM:608339 STXBP3 skos:exactMatch ncbigene:6814 semapv:UnspecifiedMatching -OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:CYB5R1 semapv:UnspecifiedMatching OMIM:608341 CYB5R1 skos:exactMatch ncbigene:51706 semapv:UnspecifiedMatching -OMIM:608342 CYB5R2 skos:exactMatch ncbigene:51700 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:CYB5R1 semapv:UnspecifiedMatching OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:CYB5R2 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch ncbigene:51700 semapv:UnspecifiedMatching OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:CYB5R4 semapv:UnspecifiedMatching OMIM:608343 CYB5R4 skos:exactMatch ncbigene:51167 semapv:UnspecifiedMatching OMIM:608344 HSPB9 skos:exactMatch UMLS:C1537389 semapv:UnspecifiedMatching @@ -25221,16 +25225,16 @@ OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:IGSF11 semapv:UnspecifiedMatching OMIM:608351 IGSF11 skos:exactMatch ncbigene:152404 semapv:UnspecifiedMatching OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:ACRBP semapv:UnspecifiedMatching OMIM:608352 ACRBP skos:exactMatch ncbigene:84519 semapv:UnspecifiedMatching -OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:AZIN2 semapv:UnspecifiedMatching OMIM:608353 AZIN2 skos:exactMatch ncbigene:113451 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:AZIN2 semapv:UnspecifiedMatching OMIM:608356 ODF3 skos:exactMatch hgnc.symbol:ODF3 semapv:UnspecifiedMatching OMIM:608356 ODF3 skos:exactMatch ncbigene:113746 semapv:UnspecifiedMatching OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:SULT1C4 semapv:UnspecifiedMatching OMIM:608357 SULT1C4 skos:exactMatch ncbigene:27233 semapv:UnspecifiedMatching -OMIM:608359 SULT4A1 skos:exactMatch ncbigene:25830 semapv:UnspecifiedMatching OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:SULT4A1 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch ncbigene:56262 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch ncbigene:25830 semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:LRRC8A semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch ncbigene:56262 semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch UMLS:C1825876 semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch UMLS:C4225518 semapv:UnspecifiedMatching OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:STMN3 semapv:UnspecifiedMatching @@ -25239,24 +25243,24 @@ OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:LIMA1 semapv:UnspecifiedMatching OMIM:608364 LIMA1 skos:exactMatch ncbigene:51474 semapv:UnspecifiedMatching OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:TCP10L semapv:UnspecifiedMatching OMIM:608365 TCP10L skos:exactMatch ncbigene:140290 semapv:UnspecifiedMatching -OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:CEMIP semapv:UnspecifiedMatching -OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch ncbigene:79966 semapv:UnspecifiedMatching -OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:SYNGR4 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching OMIM:608374 HJV skos:exactMatch hgnc.symbol:HJV semapv:UnspecifiedMatching OMIM:608374 HJV skos:exactMatch ncbigene:148738 semapv:UnspecifiedMatching OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:DNAJC6 semapv:UnspecifiedMatching OMIM:608375 DNAJC6 skos:exactMatch ncbigene:9829 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch UMLS:C1423030 semapv:UnspecifiedMatching OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:DNAJB12 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch UMLS:C1423030 semapv:UnspecifiedMatching OMIM:608376 DNAJB12 skos:exactMatch ncbigene:54788 semapv:UnspecifiedMatching OMIM:608377 ARFGAP1 skos:exactMatch ncbigene:55738 semapv:UnspecifiedMatching OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:ARFGAP1 semapv:UnspecifiedMatching @@ -25266,209 +25270,209 @@ OMIM:608378 NEMF skos:exactMatch hgnc.symbol:NEMF semapv:UnspecifiedMatching OMIM:608378 NEMF skos:exactMatch ncbigene:9147 semapv:UnspecifiedMatching OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:CCRL2 semapv:UnspecifiedMatching OMIM:608379 CCRL2 skos:exactMatch ncbigene:9034 semapv:UnspecifiedMatching -OMIM:608381 CERKL skos:exactMatch ncbigene:375298 semapv:UnspecifiedMatching OMIM:608381 CERKL skos:exactMatch hgnc.symbol:CERKL semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:DNAJA3 semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch ncbigene:375298 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch ncbigene:9093 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:DNAJA3 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch UMLS:C1420733 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:DPYSL5 semapv:UnspecifiedMatching OMIM:608383 DPYSL5 skos:exactMatch ncbigene:56896 semapv:UnspecifiedMatching OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:GSDMC semapv:UnspecifiedMatching OMIM:608384 GSDMC skos:exactMatch ncbigene:56169 semapv:UnspecifiedMatching -OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:TNS4 semapv:UnspecifiedMatching OMIM:608385 TNS4 skos:exactMatch ncbigene:84951 semapv:UnspecifiedMatching -OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:PTH2 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:TNS4 semapv:UnspecifiedMatching OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch ncbigene:113091 semapv:UnspecifiedMatching -OMIM:608387 ZNF213 skos:exactMatch ncbigene:7760 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:PTH2 semapv:UnspecifiedMatching OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:ZNF213 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch ncbigene:7760 semapv:UnspecifiedMatching OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:ECSIT semapv:UnspecifiedMatching OMIM:608388 ECSIT skos:exactMatch ncbigene:51295 semapv:UnspecifiedMatching OMIM:608389 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching OMIM:608389 branchiootic syndrome 3 skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:SLC9A9 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch ncbigene:285195 semapv:UnspecifiedMatching -OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:CSMD1 semapv:UnspecifiedMatching OMIM:608397 CSMD1 skos:exactMatch ncbigene:64478 semapv:UnspecifiedMatching -OMIM:608398 CSMD2 skos:exactMatch ncbigene:114784 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:CSMD1 semapv:UnspecifiedMatching OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:CSMD2 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch ncbigene:114784 semapv:UnspecifiedMatching OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:CSMD3 semapv:UnspecifiedMatching OMIM:608399 CSMD3 skos:exactMatch ncbigene:114788 semapv:UnspecifiedMatching OMIM:608400 USH2A skos:exactMatch hgnc.symbol:USH2A semapv:UnspecifiedMatching OMIM:608400 USH2A skos:exactMatch ncbigene:7399 semapv:UnspecifiedMatching OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:MS4A4E semapv:UnspecifiedMatching OMIM:608401 MS4A4E skos:exactMatch ncbigene:643680 semapv:UnspecifiedMatching -OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:MS4A6E semapv:UnspecifiedMatching OMIM:608402 MS4A6E skos:exactMatch ncbigene:245802 semapv:UnspecifiedMatching -OMIM:608403 MS4A10 skos:exactMatch ncbigene:341116 semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:MS4A6E semapv:UnspecifiedMatching OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:MS4A10 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch ncbigene:341116 semapv:UnspecifiedMatching OMIM:608405 ACCS skos:exactMatch hgnc.symbol:ACCS semapv:UnspecifiedMatching OMIM:608405 ACCS skos:exactMatch ncbigene:84680 semapv:UnspecifiedMatching OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:DPYSL4 semapv:UnspecifiedMatching OMIM:608407 DPYSL4 skos:exactMatch ncbigene:10570 semapv:UnspecifiedMatching OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:DPPA3 semapv:UnspecifiedMatching OMIM:608408 DPPA3 skos:exactMatch ncbigene:359787 semapv:UnspecifiedMatching -OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching OMIM:608409 C15ORF48 skos:exactMatch ncbigene:84419 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:XPO6 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch ncbigene:23214 semapv:UnspecifiedMatching -OMIM:608412 GPBP1 skos:exactMatch ncbigene:65056 semapv:UnspecifiedMatching OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:GPBP1 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch ncbigene:65056 semapv:UnspecifiedMatching OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:UBR5 semapv:UnspecifiedMatching OMIM:608413 UBR5 skos:exactMatch ncbigene:51366 semapv:UnspecifiedMatching OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:PLCE1 semapv:UnspecifiedMatching OMIM:608414 PLCE1 skos:exactMatch ncbigene:51196 semapv:UnspecifiedMatching -OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:MMP21 semapv:UnspecifiedMatching OMIM:608416 MMP21 skos:exactMatch ncbigene:118856 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:MMP21 semapv:UnspecifiedMatching OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:MMP28 semapv:UnspecifiedMatching OMIM:608417 MMP28 skos:exactMatch ncbigene:79148 semapv:UnspecifiedMatching -OMIM:608418 SEPT8 skos:exactMatch ncbigene:23176 semapv:UnspecifiedMatching OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:SEPTIN8 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch ncbigene:23176 semapv:UnspecifiedMatching OMIM:608419 MCEE skos:exactMatch hgnc.symbol:MCEE semapv:UnspecifiedMatching OMIM:608419 MCEE skos:exactMatch ncbigene:84693 semapv:UnspecifiedMatching OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:PANX1 semapv:UnspecifiedMatching OMIM:608420 PANX1 skos:exactMatch ncbigene:24145 semapv:UnspecifiedMatching -OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:PANX2 semapv:UnspecifiedMatching OMIM:608421 PANX2 skos:exactMatch ncbigene:56666 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:PANX2 semapv:UnspecifiedMatching OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:PANX3 semapv:UnspecifiedMatching OMIM:608422 PANX3 skos:exactMatch ncbigene:116337 semapv:UnspecifiedMatching -OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch UMLS:C1842062 semapv:UnspecifiedMatching +OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:MUC17 semapv:UnspecifiedMatching OMIM:608424 MUC17 skos:exactMatch ncbigene:140453 semapv:UnspecifiedMatching OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:FN3K semapv:UnspecifiedMatching OMIM:608425 fructosamine 3-kinase skos:exactMatch ncbigene:64122 semapv:UnspecifiedMatching -OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:MKRN2 semapv:UnspecifiedMatching OMIM:608426 MKRN2 skos:exactMatch ncbigene:23609 semapv:UnspecifiedMatching -OMIM:608427 PACRG skos:exactMatch hgnc.symbol:PACRG semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:MKRN2 semapv:UnspecifiedMatching OMIM:608427 PACRG skos:exactMatch ncbigene:135138 semapv:UnspecifiedMatching -OMIM:608428 CYP26C1 skos:exactMatch ncbigene:340665 semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch hgnc.symbol:PACRG semapv:UnspecifiedMatching OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:CYP26C1 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch ncbigene:340665 semapv:UnspecifiedMatching OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:CHST14 semapv:UnspecifiedMatching OMIM:608429 CHST14 skos:exactMatch ncbigene:113189 semapv:UnspecifiedMatching OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:TRPC4AP semapv:UnspecifiedMatching OMIM:608430 TRPC4AP skos:exactMatch ncbigene:26133 semapv:UnspecifiedMatching OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:G3BP1 semapv:UnspecifiedMatching OMIM:608431 G3BP1 skos:exactMatch ncbigene:10146 semapv:UnspecifiedMatching -OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:ZBTB18 semapv:UnspecifiedMatching OMIM:608433 ZBTB18 skos:exactMatch ncbigene:10472 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch ncbigene:28964 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:GIT1 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:ZBTB18 semapv:UnspecifiedMatching OMIM:608434 GIT1 skos:exactMatch UMLS:C1333676 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:GIT1 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch ncbigene:28964 semapv:UnspecifiedMatching OMIM:608435 MRAS skos:exactMatch hgnc.symbol:MRAS semapv:UnspecifiedMatching OMIM:608435 MRAS skos:exactMatch ncbigene:22808 semapv:UnspecifiedMatching OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:SULT1B1 semapv:UnspecifiedMatching OMIM:608436 SULT1B1 skos:exactMatch ncbigene:27284 semapv:UnspecifiedMatching -OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching OMIM:608438 TLK1 skos:exactMatch ncbigene:9874 semapv:UnspecifiedMatching -OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:TLK2 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching OMIM:608439 TLK2 skos:exactMatch ncbigene:11011 semapv:UnspecifiedMatching -OMIM:608440 LACTB skos:exactMatch ncbigene:114294 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:TLK2 semapv:UnspecifiedMatching OMIM:608440 LACTB skos:exactMatch hgnc.symbol:LACTB semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C1424736 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch ncbigene:114294 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:SYNE1 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch ncbigene:23345 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch ncbigene:23224 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:SYNE2 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C1424736 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608442 SYNE2 skos:exactMatch UMLS:C1424731 semapv:UnspecifiedMatching OMIM:608442 SYNE2 skos:exactMatch UMLS:C3489792 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:SYNE2 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch ncbigene:23224 semapv:UnspecifiedMatching OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:KMT2E semapv:UnspecifiedMatching OMIM:608444 KMT2E skos:exactMatch ncbigene:55904 semapv:UnspecifiedMatching -OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching OMIM:608449 PTBP2 skos:exactMatch ncbigene:58155 semapv:UnspecifiedMatching -OMIM:608450 BLACE skos:exactMatch hgnc.symbol:BLACE semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching OMIM:608450 BLACE skos:exactMatch ncbigene:338436 semapv:UnspecifiedMatching -OMIM:608451 ETHE1 skos:exactMatch ncbigene:23474 semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch hgnc.symbol:BLACE semapv:UnspecifiedMatching OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:ETHE1 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch ncbigene:23474 semapv:UnspecifiedMatching OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:PDGFC semapv:UnspecifiedMatching OMIM:608452 PDGFC skos:exactMatch ncbigene:56034 semapv:UnspecifiedMatching OMIM:608453 CBLC skos:exactMatch hgnc.symbol:CBLC semapv:UnspecifiedMatching OMIM:608453 CBLC skos:exactMatch ncbigene:23624 semapv:UnspecifiedMatching OMIM:608455 PYGM skos:exactMatch hgnc.symbol:PYGM semapv:UnspecifiedMatching OMIM:608455 PYGM skos:exactMatch ncbigene:5837 semapv:UnspecifiedMatching -OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:CBX7 semapv:UnspecifiedMatching OMIM:608457 CBX7 skos:exactMatch ncbigene:23492 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:CBX7 semapv:UnspecifiedMatching OMIM:608458 NCDN skos:exactMatch hgnc.symbol:NCDN semapv:UnspecifiedMatching OMIM:608458 NCDN skos:exactMatch ncbigene:23154 semapv:UnspecifiedMatching -OMIM:608459 CDKL3 skos:exactMatch ncbigene:51265 semapv:UnspecifiedMatching OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:CDKL3 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch ncbigene:51265 semapv:UnspecifiedMatching OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:ZNF276 semapv:UnspecifiedMatching OMIM:608460 ZFP276 skos:exactMatch ncbigene:92822 semapv:UnspecifiedMatching OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:COL27A1 semapv:UnspecifiedMatching OMIM:608461 COL27A1 skos:exactMatch ncbigene:85301 semapv:UnspecifiedMatching -OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching OMIM:608463 AATF skos:exactMatch ncbigene:26574 semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:AGGF1 semapv:UnspecifiedMatching OMIM:608464 AGGF1 skos:exactMatch ncbigene:55109 semapv:UnspecifiedMatching -OMIM:608465 SETX skos:exactMatch ncbigene:23064 semapv:UnspecifiedMatching OMIM:608465 SETX skos:exactMatch hgnc.symbol:SETX semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch ncbigene:23064 semapv:UnspecifiedMatching OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:AHSA1 semapv:UnspecifiedMatching OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching -OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch ncbigene:10521 semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching -OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch ncbigene:10521 semapv:UnspecifiedMatching OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching +OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:ST6GAL2 semapv:UnspecifiedMatching OMIM:608472 ST6GAL2 skos:exactMatch ncbigene:84620 semapv:UnspecifiedMatching OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:ANAPC1 semapv:UnspecifiedMatching OMIM:608473 ANAPC1 skos:exactMatch ncbigene:64682 semapv:UnspecifiedMatching -OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching OMIM:608475 HIBADH skos:exactMatch ncbigene:11112 semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:TBKBP1 semapv:UnspecifiedMatching OMIM:608476 TBKBP1 skos:exactMatch ncbigene:9755 semapv:UnspecifiedMatching -OMIM:608477 AKR7A3 skos:exactMatch ncbigene:22977 semapv:UnspecifiedMatching OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:AKR7A3 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch ncbigene:22977 semapv:UnspecifiedMatching OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:AKR7L semapv:UnspecifiedMatching OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch ncbigene:246181 semapv:UnspecifiedMatching OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:SLC26A7 semapv:UnspecifiedMatching OMIM:608479 SLC26A7 skos:exactMatch ncbigene:115111 semapv:UnspecifiedMatching -OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:SLC26A8 semapv:UnspecifiedMatching OMIM:608480 SLC26A8 skos:exactMatch ncbigene:116369 semapv:UnspecifiedMatching -OMIM:608481 SLC26A9 skos:exactMatch ncbigene:115019 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:SLC26A8 semapv:UnspecifiedMatching OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:SLC26A9 semapv:UnspecifiedMatching -OMIM:608482 MMP25 skos:exactMatch ncbigene:64386 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch ncbigene:115019 semapv:UnspecifiedMatching OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:MMP25 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch ncbigene:64386 semapv:UnspecifiedMatching OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:AKTIP semapv:UnspecifiedMatching OMIM:608483 AKTIP skos:exactMatch ncbigene:64400 semapv:UnspecifiedMatching OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:TRAM2 semapv:UnspecifiedMatching OMIM:608485 TRAM2 skos:exactMatch ncbigene:9697 semapv:UnspecifiedMatching -OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:MTSS1 semapv:UnspecifiedMatching OMIM:608486 MTSS1 skos:exactMatch ncbigene:9788 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:MTSS1 semapv:UnspecifiedMatching OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:TRIM5 semapv:UnspecifiedMatching OMIM:608487 TRIM5 skos:exactMatch ncbigene:85363 semapv:UnspecifiedMatching -OMIM:608488 SMOC1 skos:exactMatch ncbigene:64093 semapv:UnspecifiedMatching OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:SMOC1 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch ncbigene:64093 semapv:UnspecifiedMatching OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:STAG3 semapv:UnspecifiedMatching OMIM:608489 STAG3 skos:exactMatch ncbigene:10734 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch UMLS:C1421999 semapv:UnspecifiedMatching OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:SLC38A1 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch UMLS:C1421999 semapv:UnspecifiedMatching OMIM:608490 SLC38A1 skos:exactMatch ncbigene:81539 semapv:UnspecifiedMatching -OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:DMTF1 semapv:UnspecifiedMatching OMIM:608491 DMTF1 skos:exactMatch ncbigene:9988 semapv:UnspecifiedMatching -OMIM:608492 OR5F1 skos:exactMatch ncbigene:338674 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:DMTF1 semapv:UnspecifiedMatching OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:OR5F1 semapv:UnspecifiedMatching -OMIM:608493 OR10A1 skos:exactMatch ncbigene:144124 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch ncbigene:338674 semapv:UnspecifiedMatching OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:OR10A5 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch ncbigene:144124 semapv:UnspecifiedMatching OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:OR2D2 semapv:UnspecifiedMatching OMIM:608494 OR2D2 skos:exactMatch ncbigene:120776 semapv:UnspecifiedMatching -OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:OR6A2 semapv:UnspecifiedMatching OMIM:608495 OR6A2 skos:exactMatch ncbigene:8590 semapv:UnspecifiedMatching -OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:OR5I1 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:OR6A2 semapv:UnspecifiedMatching OMIM:608496 OR5I1 skos:exactMatch ncbigene:10798 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:OR5I1 semapv:UnspecifiedMatching OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:OR2F1 semapv:UnspecifiedMatching OMIM:608497 OR2F1 skos:exactMatch ncbigene:26211 semapv:UnspecifiedMatching -OMIM:608498 ZPBP skos:exactMatch ncbigene:11055 semapv:UnspecifiedMatching OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:ZPBP semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch ncbigene:11055 semapv:UnspecifiedMatching OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:ZPBP2 semapv:UnspecifiedMatching OMIM:608499 ZPBP2 skos:exactMatch ncbigene:124626 semapv:UnspecifiedMatching OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:PRICKLE1 semapv:UnspecifiedMatching @@ -25477,15 +25481,15 @@ OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:PRICKLE2 semapv:UnspecifiedMatc OMIM:608501 PRICKLE2 skos:exactMatch ncbigene:166336 semapv:UnspecifiedMatching OMIM:608502 PCBP3 skos:exactMatch ncbigene:54039 semapv:UnspecifiedMatching OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:PCBP3 semapv:UnspecifiedMatching -OMIM:608503 PCBP4 skos:exactMatch ncbigene:57060 semapv:UnspecifiedMatching OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:PCBP4 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch ncbigene:57060 semapv:UnspecifiedMatching OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:ARHGEF15 semapv:UnspecifiedMatching OMIM:608504 ARHGEF15 skos:exactMatch ncbigene:22899 semapv:UnspecifiedMatching OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:MFN1 semapv:UnspecifiedMatching OMIM:608506 MFN1 skos:exactMatch ncbigene:55669 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch ncbigene:9927 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch UMLS:C4310875 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:MFN2 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch UMLS:C4310875 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C1424611 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C0393807 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C4310725 semapv:UnspecifiedMatching @@ -25494,101 +25498,101 @@ OMIM:608508 CYBA skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch UMLS:C4017159 semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch hgnc.symbol:CYBA semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch ncbigene:1535 semapv:UnspecifiedMatching -OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:SH2D1B semapv:UnspecifiedMatching OMIM:608510 SH2D1B skos:exactMatch ncbigene:117157 semapv:UnspecifiedMatching -OMIM:608511 PHYHIP skos:exactMatch ncbigene:9796 semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:SH2D1B semapv:UnspecifiedMatching OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:PHYHIP semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch ncbigene:9796 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch UMLS:C1417608 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:NCF1 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch ncbigene:653361 semapv:UnspecifiedMatching -OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:RPPH1 semapv:UnspecifiedMatching OMIM:608513 RPPH1 skos:exactMatch ncbigene:85495 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:RPPH1 semapv:UnspecifiedMatching OMIM:608514 AIG1 skos:exactMatch ncbigene:51390 semapv:UnspecifiedMatching OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:AIG1 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch ncbigene:4688 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:NCF2 semapv:UnspecifiedMatching OMIM:608515 NCF2 skos:exactMatch UMLS:C1417609 semapv:UnspecifiedMatching OMIM:608515 NCF2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:NCF2 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch ncbigene:4688 semapv:UnspecifiedMatching OMIM:608517 MYPN skos:exactMatch hgnc.symbol:MYPN semapv:UnspecifiedMatching OMIM:608517 MYPN skos:exactMatch ncbigene:84665 semapv:UnspecifiedMatching OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:FBXO16 semapv:UnspecifiedMatching OMIM:608519 FBXO16 skos:exactMatch ncbigene:157574 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:LAMTOR5 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch ncbigene:10542 semapv:UnspecifiedMatching -OMIM:608522 HBXAP skos:exactMatch ncbigene:51773 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:RSF1 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch ncbigene:51773 semapv:UnspecifiedMatching OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:DIO3OS semapv:UnspecifiedMatching OMIM:608523 DIO3OS skos:exactMatch ncbigene:64150 semapv:UnspecifiedMatching OMIM:608524 ING4 skos:exactMatch UMLS:C1426234 semapv:UnspecifiedMatching OMIM:608524 ING4 skos:exactMatch hgnc.symbol:ING4 semapv:UnspecifiedMatching OMIM:608524 ING4 skos:exactMatch ncbigene:51147 semapv:UnspecifiedMatching -OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching OMIM:608525 ING5 skos:exactMatch ncbigene:84289 semapv:UnspecifiedMatching -OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching OMIM:608527 NEU4 skos:exactMatch ncbigene:129807 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch ncbigene:128869 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch hgnc.symbol:PIGU semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching OMIM:608528 PIGU skos:exactMatch UMLS:C1423732 semapv:UnspecifiedMatching OMIM:608528 PIGU skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch hgnc.symbol:PIGU semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch ncbigene:128869 semapv:UnspecifiedMatching OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:FBN3 semapv:UnspecifiedMatching OMIM:608529 FBN3 skos:exactMatch ncbigene:84467 semapv:UnspecifiedMatching OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:BTBD1 semapv:UnspecifiedMatching OMIM:608530 BTBD1 skos:exactMatch ncbigene:53339 semapv:UnspecifiedMatching -OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:BTBD2 semapv:UnspecifiedMatching OMIM:608531 BTBD2 skos:exactMatch ncbigene:55643 semapv:UnspecifiedMatching -OMIM:608532 NCAPG2 skos:exactMatch ncbigene:54892 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:BTBD2 semapv:UnspecifiedMatching OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:NCAPG2 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch ncbigene:54892 semapv:UnspecifiedMatching OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:FBXO38 semapv:UnspecifiedMatching OMIM:608533 FBXO38 skos:exactMatch ncbigene:81545 semapv:UnspecifiedMatching OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:ACTRT3 semapv:UnspecifiedMatching OMIM:608534 actin-related protein m1 skos:exactMatch ncbigene:84517 semapv:UnspecifiedMatching -OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:ACTRT2 semapv:UnspecifiedMatching OMIM:608535 ACTRT2 skos:exactMatch ncbigene:140625 semapv:UnspecifiedMatching -OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:GTPBP3 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:ACTRT2 semapv:UnspecifiedMatching OMIM:608536 GTPBP3 skos:exactMatch ncbigene:84705 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C5394582 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C4017161 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C4017160 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:GTPBP3 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C0694897 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch hgnc.symbol:VHL semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C0694897 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C4017160 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C4017161 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C5394582 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch hgnc.symbol:VHL semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch ncbigene:7428 semapv:UnspecifiedMatching -OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:ARID5B semapv:UnspecifiedMatching OMIM:608538 ARID5B skos:exactMatch ncbigene:84159 semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:ARID5B semapv:UnspecifiedMatching OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:GLIS2 semapv:UnspecifiedMatching OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching -OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching +OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:HDAC10 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch ncbigene:83933 semapv:UnspecifiedMatching -OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching OMIM:608546 EIF4A3 skos:exactMatch ncbigene:9775 semapv:UnspecifiedMatching -OMIM:608547 VKORC1 skos:exactMatch ncbigene:79001 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:VKORC1 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch ncbigene:79001 semapv:UnspecifiedMatching OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:HMCN1 semapv:UnspecifiedMatching OMIM:608548 HMCN1 skos:exactMatch ncbigene:83872 semapv:UnspecifiedMatching OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:VPS11 semapv:UnspecifiedMatching OMIM:608549 VPS11 skos:exactMatch ncbigene:55823 semapv:UnspecifiedMatching OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:VPS16 semapv:UnspecifiedMatching OMIM:608550 VPS16 skos:exactMatch ncbigene:64601 semapv:UnspecifiedMatching -OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:VPS18 semapv:UnspecifiedMatching OMIM:608551 VPS18 skos:exactMatch ncbigene:57617 semapv:UnspecifiedMatching -OMIM:608552 VPS33B skos:exactMatch ncbigene:26276 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:VPS18 semapv:UnspecifiedMatching OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:VPS33B semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch ncbigene:26276 semapv:UnspecifiedMatching OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:NPAS4 semapv:UnspecifiedMatching OMIM:608554 NPAS4 skos:exactMatch ncbigene:266743 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch UMLS:C1417489 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:MTX2 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch ncbigene:10651 semapv:UnspecifiedMatching -OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:STAB1 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching OMIM:608561 STAB2 skos:exactMatch ncbigene:55576 semapv:UnspecifiedMatching OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:STAB2 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch UMLS:C1333677 semapv:UnspecifiedMatching @@ -25598,10 +25602,10 @@ OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:MUC15 semapv:UnspecifiedMatching OMIM:608566 MUC15 skos:exactMatch ncbigene:143662 semapv:UnspecifiedMatching OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:MYH14 semapv:UnspecifiedMatching OMIM:608568 MYH14 skos:exactMatch ncbigene:79784 semapv:UnspecifiedMatching -OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:608570 AHNAK2 skos:exactMatch ncbigene:113146 semapv:UnspecifiedMatching +OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:AHNAK2 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch ncbigene:113146 semapv:UnspecifiedMatching OMIM:608574 EMSY skos:exactMatch hgnc.symbol:EMSY semapv:UnspecifiedMatching OMIM:608574 EMSY skos:exactMatch ncbigene:56946 semapv:UnspecifiedMatching OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:RDH8 semapv:UnspecifiedMatching @@ -25611,25 +25615,25 @@ OMIM:608576 GRHL2 skos:exactMatch ncbigene:79977 semapv:UnspecifiedMatching OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:CHURC1 semapv:UnspecifiedMatching OMIM:608577 CHURC1 skos:exactMatch ncbigene:91612 semapv:UnspecifiedMatching OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:MYH16 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch ncbigene:94137 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:RP1L1 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C1423850 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C4017164 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:RP1L1 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch ncbigene:94137 semapv:UnspecifiedMatching OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:EGFL7 semapv:UnspecifiedMatching OMIM:608582 EGFL7 skos:exactMatch ncbigene:51162 semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch ncbigene:84514 semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch UMLS:C1825345 semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching OMIM:608588 DHX58 skos:exactMatch UMLS:C1837808 semapv:UnspecifiedMatching OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:DHX58 semapv:UnspecifiedMatching OMIM:608588 DHX58 skos:exactMatch ncbigene:79132 semapv:UnspecifiedMatching OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:SLAMF9 semapv:UnspecifiedMatching OMIM:608589 SLAMF9 skos:exactMatch ncbigene:89886 semapv:UnspecifiedMatching -OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:CTDSPL semapv:UnspecifiedMatching OMIM:608592 CTDSPL skos:exactMatch ncbigene:10217 semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:CTDSPL semapv:UnspecifiedMatching OMIM:608593 CFHR5 skos:exactMatch ncbigene:81494 semapv:UnspecifiedMatching OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:CFHR5 semapv:UnspecifiedMatching OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:NPSR1 semapv:UnspecifiedMatching @@ -25640,10 +25644,10 @@ OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:NEURL2 semapv:UnspecifiedMatching OMIM:608597 NEURL2 skos:exactMatch ncbigene:140825 semapv:UnspecifiedMatching OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:CASC2 semapv:UnspecifiedMatching OMIM:608598 CASC2 skos:exactMatch ncbigene:255082 semapv:UnspecifiedMatching -OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:RAB11FIP2 semapv:UnspecifiedMatching OMIM:608599 RAB11FIP2 skos:exactMatch ncbigene:22841 semapv:UnspecifiedMatching -OMIM:608601 FBS1 skos:exactMatch ncbigene:64319 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:RAB11FIP2 semapv:UnspecifiedMatching OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:FBRS semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch ncbigene:64319 semapv:UnspecifiedMatching OMIM:608602 SP140 skos:exactMatch hgnc.symbol:SP140 semapv:UnspecifiedMatching OMIM:608602 SP140 skos:exactMatch ncbigene:11262 semapv:UnspecifiedMatching OMIM:608603 GLDN skos:exactMatch hgnc.symbol:GLDN semapv:UnspecifiedMatching @@ -25652,8 +25656,8 @@ OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:RBP7 semapv:UnspecifiedMatching OMIM:608604 RBP7 skos:exactMatch ncbigene:116362 semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch ncbigene:201595 semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch hgnc.symbol:STT3B semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch UMLS:C1823139 semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch UMLS:C2931007 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch UMLS:C1823139 semapv:UnspecifiedMatching OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:BHLHA15 semapv:UnspecifiedMatching OMIM:608606 BHLHA15 skos:exactMatch ncbigene:168620 semapv:UnspecifiedMatching OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:NBPF12 semapv:UnspecifiedMatching @@ -25671,18 +25675,18 @@ OMIM:608613 SP6 skos:exactMatch hgnc.symbol:SP6 semapv:UnspecifiedMatching OMIM:608613 SP6 skos:exactMatch ncbigene:80320 semapv:UnspecifiedMatching OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:CYP4V2 semapv:UnspecifiedMatching OMIM:608614 CYP4V2 skos:exactMatch ncbigene:285440 semapv:UnspecifiedMatching -OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:OBSCN semapv:UnspecifiedMatching OMIM:608616 OBSCN skos:exactMatch ncbigene:84033 semapv:UnspecifiedMatching -OMIM:608617 FAM3B skos:exactMatch ncbigene:54097 semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:OBSCN semapv:UnspecifiedMatching OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:FAM3B semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch ncbigene:54097 semapv:UnspecifiedMatching OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:FAM3C semapv:UnspecifiedMatching OMIM:608618 FAM3C skos:exactMatch ncbigene:10447 semapv:UnspecifiedMatching OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:FAM3D semapv:UnspecifiedMatching OMIM:608619 FAM3D skos:exactMatch ncbigene:131177 semapv:UnspecifiedMatching OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:SPA17 semapv:UnspecifiedMatching OMIM:608621 SPA17 skos:exactMatch ncbigene:53340 semapv:UnspecifiedMatching -OMIM:608625 PTRH2 skos:exactMatch ncbigene:51651 semapv:UnspecifiedMatching OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:PTRH2 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch ncbigene:51651 semapv:UnspecifiedMatching OMIM:608626 STRADA skos:exactMatch ncbigene:92335 semapv:UnspecifiedMatching OMIM:608626 STRADA skos:exactMatch hgnc.symbol:STRADA semapv:UnspecifiedMatching OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:TBL1XR1 semapv:UnspecifiedMatching @@ -25701,8 +25705,8 @@ OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:ZNF461 semapv:UnspecifiedMatching OMIM:608640 ZNF461 skos:exactMatch ncbigene:92283 semapv:UnspecifiedMatching OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:PTGR2 semapv:UnspecifiedMatching OMIM:608642 ZADH1 skos:exactMatch ncbigene:145482 semapv:UnspecifiedMatching -OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching +OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching OMIM:608648 SEC63 skos:exactMatch ncbigene:11231 semapv:UnspecifiedMatching OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:SEC63 semapv:UnspecifiedMatching OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:ULK2 semapv:UnspecifiedMatching @@ -25711,8 +25715,8 @@ OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:AGAP1 semapv:UnspecifiedMatching OMIM:608651 AGAP1 skos:exactMatch ncbigene:116987 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:GJC1 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch ncbigene:10052 semapv:UnspecifiedMatching -OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching OMIM:608657 JDP2 skos:exactMatch ncbigene:122953 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch ncbigene:123228 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:SENP8 semapv:UnspecifiedMatching OMIM:608660 INSIG2 skos:exactMatch UMLS:C1426946 semapv:UnspecifiedMatching @@ -25722,8 +25726,8 @@ OMIM:608661 PODN skos:exactMatch hgnc.symbol:PODN semapv:UnspecifiedMatching OMIM:608661 PODN skos:exactMatch ncbigene:127435 semapv:UnspecifiedMatching OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:ANO5 semapv:UnspecifiedMatching OMIM:608662 ANO5 skos:exactMatch ncbigene:203859 semapv:UnspecifiedMatching -OMIM:608663 ANO6 skos:exactMatch ncbigene:196527 semapv:UnspecifiedMatching OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:ANO6 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch ncbigene:196527 semapv:UnspecifiedMatching OMIM:608665 PSMC3IP skos:exactMatch ncbigene:29893 semapv:UnspecifiedMatching OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:PSMC3IP semapv:UnspecifiedMatching OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:PEX26 semapv:UnspecifiedMatching @@ -25738,13 +25742,13 @@ OMIM:608669 BNC2 skos:exactMatch ncbigene:54796 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:BNC2 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch UMLS:C1538958 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch UMLS:C5231427 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:DZIP1 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C1427196 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:DZIP1 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch ncbigene:22873 semapv:UnspecifiedMatching -OMIM:608672 DZIP3 skos:exactMatch ncbigene:9666 semapv:UnspecifiedMatching OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:DZIP3 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch ncbigene:9666 semapv:UnspecifiedMatching OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:SH3D19 semapv:UnspecifiedMatching OMIM:608674 sh3 domain protein 19 skos:exactMatch ncbigene:152503 semapv:UnspecifiedMatching OMIM:608675 FCSK skos:exactMatch hgnc.symbol:FCSK semapv:UnspecifiedMatching @@ -25754,8 +25758,8 @@ OMIM:608676 TXLNA skos:exactMatch ncbigene:200081 semapv:UnspecifiedMatching OMIM:608677 MIB1 skos:exactMatch ncbigene:57534 semapv:UnspecifiedMatching OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:MIB1 semapv:UnspecifiedMatching OMIM:608678 IL33 skos:exactMatch ncbigene:90865 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch UMLS:C1825595 semapv:UnspecifiedMatching OMIM:608678 IL33 skos:exactMatch hgnc.symbol:IL33 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch UMLS:C1825595 semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch UMLS:C1540041 semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch UMLS:C4540270 semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:TP53RK semapv:UnspecifiedMatching @@ -25792,28 +25796,28 @@ OMIM:608699 BMPER skos:exactMatch UMLS:C1826624 semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch hgnc.symbol:BMPER semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch ncbigene:168667 semapv:UnspecifiedMatching -OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:NMNAT1 semapv:UnspecifiedMatching OMIM:608700 NMNAT1 skos:exactMatch ncbigene:64802 semapv:UnspecifiedMatching -OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:NMNAT2 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:NMNAT1 semapv:UnspecifiedMatching OMIM:608701 NMNAT2 skos:exactMatch ncbigene:23057 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:NMNAT2 semapv:UnspecifiedMatching OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:NMNAT3 semapv:UnspecifiedMatching OMIM:608702 NMNAT3 skos:exactMatch ncbigene:349565 semapv:UnspecifiedMatching OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:NMRK1 semapv:UnspecifiedMatching OMIM:608704 NMRK1 skos:exactMatch ncbigene:54981 semapv:UnspecifiedMatching OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:NMRK2 semapv:UnspecifiedMatching OMIM:608705 ITGB1BP3 skos:exactMatch ncbigene:27231 semapv:UnspecifiedMatching -OMIM:608706 DNAAF4 skos:exactMatch ncbigene:161582 semapv:UnspecifiedMatching OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:DNAAF4 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch ncbigene:161582 semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch ncbigene:50937 semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch hgnc.symbol:CDON semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch UMLS:C1332740 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching OMIM:608708 BOC skos:exactMatch hgnc.symbol:BOC semapv:UnspecifiedMatching OMIM:608708 BOC skos:exactMatch ncbigene:91653 semapv:UnspecifiedMatching -OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching OMIM:608711 CTDSP2 skos:exactMatch ncbigene:10106 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch ncbigene:11122 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:PTPRT semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch ncbigene:11122 semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch UMLS:C1335289 semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1427014 semapv:UnspecifiedMatching @@ -25832,18 +25836,18 @@ OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:NR2C2AP se OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch ncbigene:126382 semapv:UnspecifiedMatching OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:CAMK2N2 semapv:UnspecifiedMatching OMIM:608721 CAMK2N2 skos:exactMatch ncbigene:94032 semapv:UnspecifiedMatching -OMIM:608722 CAPZA3 skos:exactMatch ncbigene:93661 semapv:UnspecifiedMatching OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:CAPZA3 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch ncbigene:93661 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch ncbigene:221692 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:PHACTR1 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch UMLS:C1538627 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch UMLS:C1538627 semapv:UnspecifiedMatching OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:PHACTR2 semapv:UnspecifiedMatching OMIM:608724 PHACTR2 skos:exactMatch ncbigene:9749 semapv:UnspecifiedMatching OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:PHACTR3 semapv:UnspecifiedMatching OMIM:608725 PHACTR3 skos:exactMatch ncbigene:116154 semapv:UnspecifiedMatching -OMIM:608726 PHACTR4 skos:exactMatch ncbigene:65979 semapv:UnspecifiedMatching OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:PHACTR4 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch ncbigene:65979 semapv:UnspecifiedMatching OMIM:608727 DET1 skos:exactMatch ncbigene:55070 semapv:UnspecifiedMatching OMIM:608727 DET1 skos:exactMatch hgnc.symbol:DET1 semapv:UnspecifiedMatching OMIM:608727 DET1 skos:exactMatch UMLS:C1539273 semapv:UnspecifiedMatching @@ -25863,11 +25867,11 @@ OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:SLC39A12 semapv:UnspecifiedMatc OMIM:608734 SLC39A12 skos:exactMatch ncbigene:221074 semapv:UnspecifiedMatching OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:SLC39A13 semapv:UnspecifiedMatching OMIM:608735 SLC39A13 skos:exactMatch ncbigene:91252 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch ncbigene:23516 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:SLC39A14 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch ncbigene:23516 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1840404 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1427165 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:RAB11FIP1 semapv:UnspecifiedMatching OMIM:608737 RAB11FIP1 skos:exactMatch ncbigene:80223 semapv:UnspecifiedMatching OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:RAB11FIP3 semapv:UnspecifiedMatching @@ -25876,8 +25880,8 @@ OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:ERI1 semapv:UnspecifiedMatching OMIM:608739 ERI1 skos:exactMatch ncbigene:90459 semapv:UnspecifiedMatching OMIM:608740 NFAM1 skos:exactMatch ncbigene:150372 semapv:UnspecifiedMatching OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:NFAM1 semapv:UnspecifiedMatching -OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching OMIM:608741 SYT11 skos:exactMatch ncbigene:23208 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch UMLS:C1825641 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:JSRP1 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch ncbigene:126306 semapv:UnspecifiedMatching @@ -25885,19 +25889,19 @@ OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:SLC25A24 semapv:UnspecifiedMatc OMIM:608744 SLC25A24 skos:exactMatch ncbigene:29957 semapv:UnspecifiedMatching OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:SLC25A25 semapv:UnspecifiedMatching OMIM:608745 SLC25A25 skos:exactMatch ncbigene:114789 semapv:UnspecifiedMatching -OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:SLC25A23 semapv:UnspecifiedMatching OMIM:608746 SLC25A23 skos:exactMatch ncbigene:79085 semapv:UnspecifiedMatching -OMIM:608748 BMP10 skos:exactMatch ncbigene:27302 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:SLC25A23 semapv:UnspecifiedMatching OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:BMP10 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch ncbigene:27302 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch UMLS:C1422073 semapv:UnspecifiedMatching OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:BRD4 semapv:UnspecifiedMatching OMIM:608749 BRD4 skos:exactMatch ncbigene:23476 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch UMLS:C1422073 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch ncbigene:10195 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:ALG3 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch UMLS:C1427879 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching -OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:C1QTNF5 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch ncbigene:10195 semapv:UnspecifiedMatching OMIM:608752 C1QTNF5 skos:exactMatch ncbigene:114902 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:C1QTNF5 semapv:UnspecifiedMatching OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:TSEN2 semapv:UnspecifiedMatching OMIM:608753 TSEN2 skos:exactMatch ncbigene:80746 semapv:UnspecifiedMatching OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:TSEN34 semapv:UnspecifiedMatching @@ -25906,27 +25910,27 @@ OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:TSEN54 semapv:UnspecifiedMatching OMIM:608755 TSEN54 skos:exactMatch ncbigene:283989 semapv:UnspecifiedMatching OMIM:608756 TSEN15 skos:exactMatch ncbigene:116461 semapv:UnspecifiedMatching OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:TSEN15 semapv:UnspecifiedMatching -OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:CLP1 semapv:UnspecifiedMatching OMIM:608757 CLP1 skos:exactMatch ncbigene:10978 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:CLP1 semapv:UnspecifiedMatching OMIM:608759 CYGB skos:exactMatch hgnc.symbol:CYGB semapv:UnspecifiedMatching OMIM:608759 CYGB skos:exactMatch ncbigene:114757 semapv:UnspecifiedMatching OMIM:608760 ATG7 skos:exactMatch UMLS:C1825498 semapv:UnspecifiedMatching OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:ATG7 semapv:UnspecifiedMatching OMIM:608760 ATG7 skos:exactMatch ncbigene:10533 semapv:UnspecifiedMatching -OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:SLC5A7 semapv:UnspecifiedMatching -OMIM:608764 NAMPT skos:exactMatch ncbigene:10135 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:NAMPT semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch ncbigene:10135 semapv:UnspecifiedMatching OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:LRP1B semapv:UnspecifiedMatching OMIM:608766 LRP1B skos:exactMatch ncbigene:53353 semapv:UnspecifiedMatching -OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:FEM1C semapv:UnspecifiedMatching OMIM:608767 FEM1C skos:exactMatch ncbigene:56929 semapv:UnspecifiedMatching -OMIM:608769 PDHX skos:exactMatch hgnc.symbol:PDHX semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:FEM1C semapv:UnspecifiedMatching OMIM:608769 PDHX skos:exactMatch ncbigene:8050 semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch hgnc.symbol:PDHX semapv:UnspecifiedMatching OMIM:608770 DLAT skos:exactMatch hgnc.symbol:DLAT semapv:UnspecifiedMatching OMIM:608770 DLAT skos:exactMatch ncbigene:1737 semapv:UnspecifiedMatching -OMIM:608771 MED13L skos:exactMatch ncbigene:23389 semapv:UnspecifiedMatching OMIM:608771 MED13L skos:exactMatch hgnc.symbol:MED13L semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch ncbigene:23389 semapv:UnspecifiedMatching OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:MIIP semapv:UnspecifiedMatching OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch ncbigene:60672 semapv:UnspecifiedMatching OMIM:608773 TPPP skos:exactMatch hgnc.symbol:TPPP semapv:UnspecifiedMatching @@ -25935,79 +25939,79 @@ OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:ANKK1 semapv:UnspecifiedMatching OMIM:608774 ANKK1 skos:exactMatch ncbigene:255239 semapv:UnspecifiedMatching OMIM:608775 HAUS1 skos:exactMatch ncbigene:115106 semapv:UnspecifiedMatching OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:HAUS1 semapv:UnspecifiedMatching -OMIM:608777 POSTN skos:exactMatch ncbigene:10631 semapv:UnspecifiedMatching OMIM:608777 POSTN skos:exactMatch hgnc.symbol:POSTN semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch ncbigene:10631 semapv:UnspecifiedMatching OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:KLHL10 semapv:UnspecifiedMatching OMIM:608778 KLHL10 skos:exactMatch ncbigene:317719 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch UMLS:C1539623 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:GTF2H5 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch ncbigene:404672 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching -OMIM:608783 SMYD3 skos:exactMatch ncbigene:64754 semapv:UnspecifiedMatching OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:SMYD3 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch ncbigene:64754 semapv:UnspecifiedMatching OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:ZDHHC8 semapv:UnspecifiedMatching OMIM:608784 ZDHHC8 skos:exactMatch ncbigene:29801 semapv:UnspecifiedMatching OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:HTRA3 semapv:UnspecifiedMatching OMIM:608785 HTRA3 skos:exactMatch ncbigene:94031 semapv:UnspecifiedMatching -OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching OMIM:608786 PC skos:exactMatch ncbigene:5091 semapv:UnspecifiedMatching -OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching OMIM:608788 SOCS7 skos:exactMatch ncbigene:30837 semapv:UnspecifiedMatching -OMIM:608789 NCKAP5 skos:exactMatch ncbigene:344148 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:NCKAP5 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch ncbigene:344148 semapv:UnspecifiedMatching OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:TADA2B semapv:UnspecifiedMatching OMIM:608790 TADA2B skos:exactMatch ncbigene:93624 semapv:UnspecifiedMatching OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:NXNL1 semapv:UnspecifiedMatching OMIM:608791 NXNL1 skos:exactMatch ncbigene:115861 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch UMLS:C1825353 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:GIPC3 semapv:UnspecifiedMatching OMIM:608792 GIPC3 skos:exactMatch ncbigene:126326 semapv:UnspecifiedMatching -OMIM:608793 SPECC1 skos:exactMatch ncbigene:92521 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:GIPC3 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch UMLS:C1825353 semapv:UnspecifiedMatching OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:SPECC1 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch ncbigene:92521 semapv:UnspecifiedMatching OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:PITPNM1 semapv:UnspecifiedMatching OMIM:608794 PITPNM1 skos:exactMatch ncbigene:9600 semapv:UnspecifiedMatching OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:PLCD3 semapv:UnspecifiedMatching OMIM:608795 PLCD3 skos:exactMatch ncbigene:113026 semapv:UnspecifiedMatching -OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching OMIM:608797 MEI1 skos:exactMatch ncbigene:150365 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch ncbigene:1687 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch hgnc.symbol:GSDME semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching OMIM:608798 GSDME skos:exactMatch UMLS:C1414006 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch hgnc.symbol:GSDME semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch ncbigene:1687 semapv:UnspecifiedMatching OMIM:608801 GCDH skos:exactMatch hgnc.symbol:GCDH semapv:UnspecifiedMatching OMIM:608801 GCDH skos:exactMatch ncbigene:2639 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch UMLS:C1423822 semapv:UnspecifiedMatching OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:L3MBTL1 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch UMLS:C1423822 semapv:UnspecifiedMatching OMIM:608802 L3MBTL1 skos:exactMatch ncbigene:26013 semapv:UnspecifiedMatching -OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:GJC2 semapv:UnspecifiedMatching OMIM:608803 GJC2 skos:exactMatch ncbigene:57165 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch ncbigene:254827 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:NAALADL2 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:GJC2 semapv:UnspecifiedMatching OMIM:608806 NAALADL2 skos:exactMatch UMLS:C1826340 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:NAALADL2 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch ncbigene:254827 semapv:UnspecifiedMatching OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:DERL1 semapv:UnspecifiedMatching OMIM:608813 DERL1 skos:exactMatch ncbigene:79139 semapv:UnspecifiedMatching -OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching OMIM:608815 EFHC1 skos:exactMatch ncbigene:114327 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:LRRC4C semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch ncbigene:57689 semapv:UnspecifiedMatching -OMIM:608818 NTNG1 skos:exactMatch ncbigene:22854 semapv:UnspecifiedMatching OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:NTNG1 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch ncbigene:22854 semapv:UnspecifiedMatching OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:KRTAP1-1 semapv:UnspecifiedMatching OMIM:608819 KRTAP1-1 skos:exactMatch ncbigene:81851 semapv:UnspecifiedMatching OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:KRTAP1-3 semapv:UnspecifiedMatching OMIM:608820 KRTAP1-3 skos:exactMatch ncbigene:81850 semapv:UnspecifiedMatching OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:KRTAP1-4 semapv:UnspecifiedMatching OMIM:608821 KRTAP1-4 skos:exactMatch ncbigene:728255 semapv:UnspecifiedMatching -OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:KRTAP1-5 semapv:UnspecifiedMatching OMIM:608822 KRTAP1-5 skos:exactMatch ncbigene:83895 semapv:UnspecifiedMatching -OMIM:608823 CGB1 skos:exactMatch ncbigene:114335 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:KRTAP1-5 semapv:UnspecifiedMatching OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:CGB1 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch ncbigene:114335 semapv:UnspecifiedMatching OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:CGB2 semapv:UnspecifiedMatching OMIM:608824 CGB2 skos:exactMatch ncbigene:114336 semapv:UnspecifiedMatching OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:CGB5 semapv:UnspecifiedMatching @@ -26016,8 +26020,8 @@ OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:CGB7 semapv:UnspecifiedMatching OMIM:608826 CGB7 skos:exactMatch ncbigene:94027 semapv:UnspecifiedMatching OMIM:608827 CGB8 skos:exactMatch ncbigene:94115 semapv:UnspecifiedMatching OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:CGB8 semapv:UnspecifiedMatching -OMIM:608828 RNASEN skos:exactMatch ncbigene:29102 semapv:UnspecifiedMatching -OMIM:608828 RNASEN skos:exactMatch hgnc.symbol:DROSHA semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:DROSHA semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch ncbigene:29102 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch UMLS:C1539897 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:SUMO4 semapv:UnspecifiedMatching @@ -26034,10 +26038,10 @@ OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:CREB3L2 semapv:UnspecifiedMatchi OMIM:608834 CREB3L2 skos:exactMatch ncbigene:64764 semapv:UnspecifiedMatching OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:ABCC13 semapv:UnspecifiedMatching OMIM:608835 ABCC13 skos:exactMatch ncbigene:150000 semapv:UnspecifiedMatching -OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:VKORC1L1 semapv:UnspecifiedMatching OMIM:608838 VKORC1L1 skos:exactMatch ncbigene:154807 semapv:UnspecifiedMatching -OMIM:608839 CAPN12 skos:exactMatch ncbigene:147968 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:VKORC1L1 semapv:UnspecifiedMatching OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:CAPN12 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch ncbigene:147968 semapv:UnspecifiedMatching OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:98894 semapv:UnspecifiedMatching @@ -26055,20 +26059,20 @@ OMIM:608845 ARL6 skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:ARL6 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch ncbigene:84100 semapv:UnspecifiedMatching -OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:CPT1C semapv:UnspecifiedMatching OMIM:608846 CPT1C skos:exactMatch ncbigene:126129 semapv:UnspecifiedMatching -OMIM:608847 FTMT skos:exactMatch ncbigene:94033 semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:CPT1C semapv:UnspecifiedMatching OMIM:608847 FTMT skos:exactMatch hgnc.symbol:FTMT semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch ncbigene:94033 semapv:UnspecifiedMatching OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:FNBP1L semapv:UnspecifiedMatching OMIM:608848 FNBP1L skos:exactMatch ncbigene:54874 semapv:UnspecifiedMatching OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:UHMK1 semapv:UnspecifiedMatching OMIM:608849 UHMK1 skos:exactMatch ncbigene:127933 semapv:UnspecifiedMatching OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:XRN2 semapv:UnspecifiedMatching OMIM:608851 XRN2 skos:exactMatch ncbigene:22803 semapv:UnspecifiedMatching -OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching OMIM:608853 BLID skos:exactMatch ncbigene:414899 semapv:UnspecifiedMatching -OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch ncbigene:127700 semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:OSCP1 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch ncbigene:127700 semapv:UnspecifiedMatching OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:TTYH2 semapv:UnspecifiedMatching OMIM:608855 TTYH2 skos:exactMatch ncbigene:94015 semapv:UnspecifiedMatching OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:CTAGE1 semapv:UnspecifiedMatching @@ -26077,16 +26081,16 @@ OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:CTAGE3P semapv:UnspecifiedMatchin OMIM:608857 CTAGE3 skos:exactMatch ncbigene:220112 semapv:UnspecifiedMatching OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:FGFR1OP2 semapv:UnspecifiedMatching OMIM:608858 FGFR1OP2 skos:exactMatch ncbigene:26127 semapv:UnspecifiedMatching -OMIM:608859 CD109 skos:exactMatch ncbigene:135228 semapv:UnspecifiedMatching OMIM:608859 CD109 skos:exactMatch hgnc.symbol:CD109 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch ncbigene:135228 semapv:UnspecifiedMatching OMIM:608860 ASTL skos:exactMatch hgnc.symbol:ASTL semapv:UnspecifiedMatching OMIM:608860 ASTL skos:exactMatch ncbigene:431705 semapv:UnspecifiedMatching OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:ATP6V1H semapv:UnspecifiedMatching OMIM:608861 ATP6V1H skos:exactMatch ncbigene:51606 semapv:UnspecifiedMatching OMIM:608862 NAXE skos:exactMatch hgnc.symbol:NAXE semapv:UnspecifiedMatching OMIM:608862 NAXE skos:exactMatch ncbigene:128240 semapv:UnspecifiedMatching -OMIM:608863 PDPN skos:exactMatch hgnc.symbol:PDPN semapv:UnspecifiedMatching OMIM:608863 PDPN skos:exactMatch ncbigene:10630 semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch hgnc.symbol:PDPN semapv:UnspecifiedMatching OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch UMLS:C1837213 semapv:UnspecifiedMatching OMIM:608865 URB1 skos:exactMatch hgnc.symbol:URB1 semapv:UnspecifiedMatching @@ -26099,39 +26103,39 @@ OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:LRIG1 semapv:UnspecifiedMatching OMIM:608868 LRIG1 skos:exactMatch ncbigene:26018 semapv:UnspecifiedMatching OMIM:608869 LRIG2 skos:exactMatch ncbigene:9860 semapv:UnspecifiedMatching OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:LRIG2 semapv:UnspecifiedMatching -OMIM:608870 LRIG3 skos:exactMatch ncbigene:121227 semapv:UnspecifiedMatching OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:LRIG3 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch ncbigene:121227 semapv:UnspecifiedMatching OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:NIPSNAP3A semapv:UnspecifiedMatching OMIM:608871 NIPSNAP3A skos:exactMatch ncbigene:25934 semapv:UnspecifiedMatching OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:NIPSNAP3B semapv:UnspecifiedMatching OMIM:608872 NIPSNAP3B skos:exactMatch ncbigene:55335 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch ncbigene:10501 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:SEMA6B semapv:UnspecifiedMatching OMIM:608873 SEMA6B skos:exactMatch UMLS:C1419957 semapv:UnspecifiedMatching OMIM:608873 SEMA6B skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:SEMA6B semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch ncbigene:10501 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching OMIM:608874 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch UMLS:C1826547 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:PCF11 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching -OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching OMIM:608877 VPS13D skos:exactMatch ncbigene:55187 semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:VPS13C semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch ncbigene:54832 semapv:UnspecifiedMatching -OMIM:608880 ZFYVE16 skos:exactMatch ncbigene:9765 semapv:UnspecifiedMatching OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:ZFYVE16 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch ncbigene:9765 semapv:UnspecifiedMatching OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:MICAL2 semapv:UnspecifiedMatching OMIM:608881 MICAL2 skos:exactMatch ncbigene:9645 semapv:UnspecifiedMatching -OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:MICAL3 semapv:UnspecifiedMatching OMIM:608882 MICAL3 skos:exactMatch ncbigene:57553 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C1425072 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:RALGAPA1 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:MICAL3 semapv:UnspecifiedMatching OMIM:608884 RALGAPA1 skos:exactMatch ncbigene:253959 semapv:UnspecifiedMatching -OMIM:608886 PPARGC1B skos:exactMatch ncbigene:133522 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:RALGAPA1 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C1425072 semapv:UnspecifiedMatching OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:PPARGC1B semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch ncbigene:133522 semapv:UnspecifiedMatching OMIM:608887 PURB skos:exactMatch hgnc.symbol:PURB semapv:UnspecifiedMatching OMIM:608887 PURB skos:exactMatch ncbigene:5814 semapv:UnspecifiedMatching OMIM:608888 developmentally regulated rna-binding protein 1 skos:exactMatch hgnc.symbol:RBM45 semapv:UnspecifiedMatching @@ -26140,18 +26144,18 @@ OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:ACMSD semapv:UnspecifiedMatching OMIM:608889 ACMSD skos:exactMatch ncbigene:130013 semapv:UnspecifiedMatching OMIM:608891 OSR1 skos:exactMatch ncbigene:130497 semapv:UnspecifiedMatching OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:OSR1 semapv:UnspecifiedMatching -OMIM:608892 CHD7 skos:exactMatch ncbigene:55636 semapv:UnspecifiedMatching OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:CHD7 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch ncbigene:55636 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C1428660 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C3148959 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:SLC6A19 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch ncbigene:340024 semapv:UnspecifiedMatching -OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:AHI1 semapv:UnspecifiedMatching OMIM:608894 AHI1 skos:exactMatch ncbigene:54806 semapv:UnspecifiedMatching -OMIM:608896 SGCG skos:exactMatch ncbigene:6445 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:AHI1 semapv:UnspecifiedMatching OMIM:608896 SGCG skos:exactMatch hgnc.symbol:SGCG semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch ncbigene:6445 semapv:UnspecifiedMatching OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:UNC13D semapv:UnspecifiedMatching OMIM:608897 UNC13D skos:exactMatch ncbigene:201294 semapv:UnspecifiedMatching OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch UMLS:C1837174 semapv:UnspecifiedMatching @@ -26160,8 +26164,8 @@ OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch ncbigene:84163 semapv:UnspecifiedMatching OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch ncbigene:389524 semapv:UnspecifiedMatching OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:GTF2IRD2B semapv:UnspecifiedMatching -OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C1837149 semapv:UnspecifiedMatching +OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching OMIM:608909 ARL5B skos:exactMatch UMLS:C1824206 semapv:UnspecifiedMatching OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:ARL5B semapv:UnspecifiedMatching OMIM:608909 ARL5B skos:exactMatch ncbigene:221079 semapv:UnspecifiedMatching @@ -26177,16 +26181,16 @@ OMIM:608915 POTEA skos:exactMatch hgnc.symbol:POTEA semapv:UnspecifiedMatching OMIM:608915 POTEA skos:exactMatch ncbigene:340441 semapv:UnspecifiedMatching OMIM:608916 POTEG skos:exactMatch hgnc.symbol:POTEG semapv:UnspecifiedMatching OMIM:608916 POTEG skos:exactMatch ncbigene:404785 semapv:UnspecifiedMatching -OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:ATPAF1 semapv:UnspecifiedMatching OMIM:608917 ATPAF1 skos:exactMatch ncbigene:64756 semapv:UnspecifiedMatching -OMIM:608918 ATPAF2 skos:exactMatch ncbigene:91647 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:ATPAF1 semapv:UnspecifiedMatching OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:ATPAF2 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch ncbigene:91647 semapv:UnspecifiedMatching OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:TTYH3 semapv:UnspecifiedMatching OMIM:608919 TTYH3 skos:exactMatch ncbigene:80727 semapv:UnspecifiedMatching OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:PITPNM2 semapv:UnspecifiedMatching OMIM:608920 PITPNM2 skos:exactMatch ncbigene:57605 semapv:UnspecifiedMatching -OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:PITPNM3 semapv:UnspecifiedMatching OMIM:608921 PITPNM3 skos:exactMatch ncbigene:83394 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:PITPNM3 semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch ncbigene:200894 semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:ARL13B semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch UMLS:C1824213 semapv:UnspecifiedMatching @@ -26197,8 +26201,8 @@ OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:FOXP4 semapv:UnspecifiedMatching OMIM:608924 FOXP4 skos:exactMatch ncbigene:116113 semapv:UnspecifiedMatching OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:MMRN2 semapv:UnspecifiedMatching OMIM:608925 MMRN2 skos:exactMatch ncbigene:79812 semapv:UnspecifiedMatching -OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:EMID1 semapv:UnspecifiedMatching OMIM:608926 EMID1 skos:exactMatch ncbigene:129080 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:EMID1 semapv:UnspecifiedMatching OMIM:608927 EMID2 skos:exactMatch ncbigene:136227 semapv:UnspecifiedMatching OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:COL26A1 semapv:UnspecifiedMatching OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:EMILIN2 semapv:UnspecifiedMatching @@ -26208,10 +26212,10 @@ OMIM:608929 EMILIN3 skos:exactMatch ncbigene:90187 semapv:UnspecifiedMatching OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching -OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:NEIL2 semapv:UnspecifiedMatching -OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching OMIM:608934 NEIL3 skos:exactMatch ncbigene:55247 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:OPRPN semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch ncbigene:58503 semapv:UnspecifiedMatching OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:SH2B1 semapv:UnspecifiedMatching @@ -26222,19 +26226,19 @@ OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:RPS6KB2 semapv:UnspecifiedMatchi OMIM:608939 RPS6KB2 skos:exactMatch ncbigene:6199 semapv:UnspecifiedMatching OMIM:608941 GNG3 skos:exactMatch ncbigene:2785 semapv:UnspecifiedMatching OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:GNG3 semapv:UnspecifiedMatching -OMIM:608942 DYNLL2 skos:exactMatch ncbigene:140735 semapv:UnspecifiedMatching OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:DYNLL2 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch ncbigene:140735 semapv:UnspecifiedMatching OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:CIAPIN1 semapv:UnspecifiedMatching OMIM:608943 CIAPIN1 skos:exactMatch ncbigene:57019 semapv:UnspecifiedMatching OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:FREM1 semapv:UnspecifiedMatching OMIM:608944 FREM1 skos:exactMatch ncbigene:158326 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:FREM2 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch ncbigene:341640 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch ncbigene:253980 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch UMLS:C1427765 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch ncbigene:253980 semapv:UnspecifiedMatching OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:ZIC4 semapv:UnspecifiedMatching OMIM:608948 ZIC4 skos:exactMatch ncbigene:84107 semapv:UnspecifiedMatching OMIM:608949 GLTP skos:exactMatch hgnc.symbol:GLTP semapv:UnspecifiedMatching @@ -26243,19 +26247,19 @@ OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:CNOT6 semapv:UnspecifiedMatching OMIM:608951 CNOT6 skos:exactMatch ncbigene:57472 semapv:UnspecifiedMatching OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:RIF1 semapv:UnspecifiedMatching OMIM:608952 RIF1 skos:exactMatch ncbigene:55183 semapv:UnspecifiedMatching -OMIM:608953 TEKT2 skos:exactMatch ncbigene:27285 semapv:UnspecifiedMatching OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:TEKT2 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch ncbigene:27285 semapv:UnspecifiedMatching OMIM:608954 MON1B skos:exactMatch UMLS:C1537934 semapv:UnspecifiedMatching OMIM:608954 MON1B skos:exactMatch hgnc.symbol:MON1B semapv:UnspecifiedMatching OMIM:608954 MON1B skos:exactMatch ncbigene:22879 semapv:UnspecifiedMatching OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:TTLL1 semapv:UnspecifiedMatching OMIM:608955 TTLL1 skos:exactMatch ncbigene:25809 semapv:UnspecifiedMatching -OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:SLC46A2 semapv:UnspecifiedMatching OMIM:608956 SLC46A2 skos:exactMatch ncbigene:57864 semapv:UnspecifiedMatching -OMIM:608958 ADA skos:exactMatch hgnc.symbol:ADA semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:SLC46A2 semapv:UnspecifiedMatching OMIM:608958 ADA skos:exactMatch ncbigene:100 semapv:UnspecifiedMatching -OMIM:608959 DPH3 skos:exactMatch ncbigene:285381 semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch hgnc.symbol:ADA semapv:UnspecifiedMatching OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:DPH3 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch ncbigene:285381 semapv:UnspecifiedMatching OMIM:608960 ARL5A skos:exactMatch UMLS:C1824205 semapv:UnspecifiedMatching OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:ARL5A semapv:UnspecifiedMatching OMIM:608960 ARL5A skos:exactMatch ncbigene:26225 semapv:UnspecifiedMatching @@ -26273,25 +26277,25 @@ OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:CABP4 semapv:UnspecifiedMatching OMIM:608965 CABP4 skos:exactMatch ncbigene:57010 semapv:UnspecifiedMatching OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:DACT2 semapv:UnspecifiedMatching OMIM:608966 DACT2 skos:exactMatch ncbigene:168002 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch ncbigene:9935 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch hgnc.symbol:MAFB semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch ncbigene:9935 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C4310874 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C1416710 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C4310873 semapv:UnspecifiedMatching OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching -OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching -OMIM:608973 SIK2 skos:exactMatch ncbigene:23235 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:SIK2 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch ncbigene:23235 semapv:UnspecifiedMatching OMIM:608974 C1RL skos:exactMatch hgnc.symbol:C1RL semapv:UnspecifiedMatching OMIM:608974 C1RL skos:exactMatch ncbigene:51279 semapv:UnspecifiedMatching OMIM:608975 PARD6B skos:exactMatch UMLS:C1424118 semapv:UnspecifiedMatching OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:PARD6B semapv:UnspecifiedMatching OMIM:608975 PARD6B skos:exactMatch ncbigene:84612 semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch UMLS:C1423959 semapv:UnspecifiedMatching OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:PARD6G semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch UMLS:C1423959 semapv:UnspecifiedMatching OMIM:608976 PARD6G skos:exactMatch ncbigene:84552 semapv:UnspecifiedMatching OMIM:608977 DNAJC19 skos:exactMatch ncbigene:131118 semapv:UnspecifiedMatching OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:DNAJC19 semapv:UnspecifiedMatching @@ -26331,19 +26335,19 @@ OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:FIS1 semapv:UnspecifiedMatching OMIM:609003 FIS1 skos:exactMatch ncbigene:51024 semapv:UnspecifiedMatching OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:BCL9L semapv:UnspecifiedMatching OMIM:609004 BCL9L skos:exactMatch ncbigene:283149 semapv:UnspecifiedMatching -OMIM:609005 WDR17 skos:exactMatch ncbigene:116966 semapv:UnspecifiedMatching OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:WDR17 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch ncbigene:116966 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch ncbigene:120892 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:LRRK2 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch UMLS:C1425650 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch UMLS:C4017179 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch UMLS:C1425650 semapv:UnspecifiedMatching OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:YWHAQ semapv:UnspecifiedMatching OMIM:609009 YWHAQ skos:exactMatch ncbigene:10971 semapv:UnspecifiedMatching OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:MCCC1 semapv:UnspecifiedMatching OMIM:609010 MCCC1 skos:exactMatch ncbigene:56922 semapv:UnspecifiedMatching -OMIM:609011 VASH1 skos:exactMatch ncbigene:22846 semapv:UnspecifiedMatching OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:VASH1 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch ncbigene:22846 semapv:UnspecifiedMatching OMIM:609012 WDR5 skos:exactMatch ncbigene:11091 semapv:UnspecifiedMatching OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:WDR5 semapv:UnspecifiedMatching OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:SLCO4C1 semapv:UnspecifiedMatching @@ -26354,8 +26358,8 @@ OMIM:609015 mitochondrial trifunctional protein deficiency skos:exactMatch UMLS: OMIM:609015 mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:ERMAP semapv:UnspecifiedMatching OMIM:609017 ERMAP skos:exactMatch ncbigene:114625 semapv:UnspecifiedMatching -OMIM:609018 HLCS skos:exactMatch hgnc.symbol:HLCS semapv:UnspecifiedMatching OMIM:609018 HLCS skos:exactMatch ncbigene:3141 semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch hgnc.symbol:HLCS semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch UMLS:C1412833 semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch hgnc.symbol:BTD semapv:UnspecifiedMatching @@ -26364,18 +26368,18 @@ OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:FOLH1B semapv:UnspecifiedMatching OMIM:609020 FOLH1B skos:exactMatch ncbigene:219595 semapv:UnspecifiedMatching OMIM:609022 RICTOR skos:exactMatch ncbigene:253260 semapv:UnspecifiedMatching OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:RICTOR semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch ncbigene:25953 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch hgnc.symbol:PNKD semapv:UnspecifiedMatching OMIM:609023 PNKD skos:exactMatch UMLS:C1418706 semapv:UnspecifiedMatching OMIM:609023 PNKD skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch hgnc.symbol:PNKD semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch ncbigene:25953 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch ncbigene:11014 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:KDELR2 semapv:UnspecifiedMatching OMIM:609024 KDELR2 skos:exactMatch UMLS:C1416623 semapv:UnspecifiedMatching OMIM:609024 KDELR2 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:KDELR2 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch ncbigene:11014 semapv:UnspecifiedMatching OMIM:609025 KRT75 skos:exactMatch ncbigene:9119 semapv:UnspecifiedMatching OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:KRT75 semapv:UnspecifiedMatching -OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching OMIM:609028 TIFA skos:exactMatch ncbigene:92610 semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:DGCR8 semapv:UnspecifiedMatching OMIM:609030 DGCR8 skos:exactMatch ncbigene:54487 semapv:UnspecifiedMatching OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:EPPIN semapv:UnspecifiedMatching @@ -26383,41 +26387,41 @@ OMIM:609031 EPPIN skos:exactMatch ncbigene:57119 semapv:UnspecifiedMatching OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:FRG2 semapv:UnspecifiedMatching OMIM:609032 FRG2 skos:exactMatch ncbigene:448831 semapv:UnspecifiedMatching OMIM:609034 HEYL skos:exactMatch hgnc.symbol:HEYL semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch UMLS:C1415526 semapv:UnspecifiedMatching OMIM:609034 HEYL skos:exactMatch ncbigene:26508 semapv:UnspecifiedMatching -OMIM:609035 RAPH1 skos:exactMatch ncbigene:65059 semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch UMLS:C1415526 semapv:UnspecifiedMatching OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:RAPH1 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch ncbigene:65059 semapv:UnspecifiedMatching OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:APBB1IP semapv:UnspecifiedMatching OMIM:609036 APBB1IP skos:exactMatch ncbigene:54518 semapv:UnspecifiedMatching OMIM:609038 RND1 skos:exactMatch hgnc.symbol:RND1 semapv:UnspecifiedMatching OMIM:609038 RND1 skos:exactMatch ncbigene:27289 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching -OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching OMIM:609042 OPN5 skos:exactMatch ncbigene:221391 semapv:UnspecifiedMatching -OMIM:609043 RXFP4 skos:exactMatch ncbigene:339403 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:RXFP4 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch ncbigene:339403 semapv:UnspecifiedMatching OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:FFAR4 semapv:UnspecifiedMatching OMIM:609044 FFAR4 skos:exactMatch ncbigene:338557 semapv:UnspecifiedMatching OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:GPR141 semapv:UnspecifiedMatching OMIM:609045 GPR141 skos:exactMatch ncbigene:353345 semapv:UnspecifiedMatching -OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:GPR142 semapv:UnspecifiedMatching OMIM:609046 GPR142 skos:exactMatch ncbigene:350383 semapv:UnspecifiedMatching -OMIM:609049 pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:GPR142 semapv:UnspecifiedMatching OMIM:609049 pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching -OMIM:609050 MTA3 skos:exactMatch ncbigene:57504 semapv:UnspecifiedMatching +OMIM:609049 pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:MTA3 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch ncbigene:57504 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch UMLS:C1424714 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:CARD8 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch ncbigene:22900 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch ncbigene:4594 semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch hgnc.symbol:MMUT semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch UMLS:C1855116 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch UMLS:C1855115 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch ncbigene:4594 semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch UMLS:C1417504 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch UMLS:C1855115 semapv:UnspecifiedMatching OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:PNPLA2 semapv:UnspecifiedMatching OMIM:609059 PNPLA2 skos:exactMatch ncbigene:57104 semapv:UnspecifiedMatching OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching @@ -26425,71 +26429,71 @@ OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch Orph OMIM:609061 ENAH skos:exactMatch UMLS:C1425409 semapv:UnspecifiedMatching OMIM:609061 ENAH skos:exactMatch hgnc.symbol:ENAH semapv:UnspecifiedMatching OMIM:609061 ENAH skos:exactMatch ncbigene:55740 semapv:UnspecifiedMatching -OMIM:609062 POU6F2 skos:exactMatch ncbigene:11281 semapv:UnspecifiedMatching OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:POU6F2 semapv:UnspecifiedMatching -OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:TXN2 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch ncbigene:11281 semapv:UnspecifiedMatching OMIM:609063 TXN2 skos:exactMatch ncbigene:25828 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:TXN2 semapv:UnspecifiedMatching OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:CNDP1 semapv:UnspecifiedMatching OMIM:609064 CNDP1 skos:exactMatch ncbigene:84735 semapv:UnspecifiedMatching OMIM:609066 AJUBA skos:exactMatch UMLS:C1426808 semapv:UnspecifiedMatching OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:AJUBA semapv:UnspecifiedMatching OMIM:609066 AJUBA skos:exactMatch ncbigene:84962 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch ncbigene:642658 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch hgnc.symbol:SCX semapv:UnspecifiedMatching OMIM:609067 SCX skos:exactMatch UMLS:C1822656 semapv:UnspecifiedMatching -OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:DAND5 semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch hgnc.symbol:SCX semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch ncbigene:642658 semapv:UnspecifiedMatching OMIM:609068 DAND5 skos:exactMatch ncbigene:199699 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:DAND5 semapv:UnspecifiedMatching OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:FBXW2 semapv:UnspecifiedMatching OMIM:609071 FBXW2 skos:exactMatch ncbigene:26190 semapv:UnspecifiedMatching OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:FBXW5 semapv:UnspecifiedMatching OMIM:609072 FBXW5 skos:exactMatch ncbigene:54461 semapv:UnspecifiedMatching -OMIM:609073 FBXW8 skos:exactMatch ncbigene:26259 semapv:UnspecifiedMatching OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:FBXW8 semapv:UnspecifiedMatching -OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:FBXW9 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch ncbigene:26259 semapv:UnspecifiedMatching OMIM:609074 FBXW9 skos:exactMatch ncbigene:84261 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:FBXW9 semapv:UnspecifiedMatching OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:FBXW12 semapv:UnspecifiedMatching OMIM:609075 FBXW12 skos:exactMatch ncbigene:285231 semapv:UnspecifiedMatching OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:FBXL6 semapv:UnspecifiedMatching OMIM:609076 FBXL6 skos:exactMatch ncbigene:26233 semapv:UnspecifiedMatching -OMIM:609077 FBXL8 skos:exactMatch ncbigene:55336 semapv:UnspecifiedMatching OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:FBXL8 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch ncbigene:55336 semapv:UnspecifiedMatching OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:KDM2B semapv:UnspecifiedMatching OMIM:609078 KDM2B skos:exactMatch ncbigene:84678 semapv:UnspecifiedMatching -OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:FBXL12 semapv:UnspecifiedMatching OMIM:609079 FBXL12 skos:exactMatch ncbigene:54850 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:FBXL12 semapv:UnspecifiedMatching OMIM:609080 FBXL13 skos:exactMatch UMLS:C1539481 semapv:UnspecifiedMatching OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:FBXL13 semapv:UnspecifiedMatching OMIM:609080 FBXL13 skos:exactMatch ncbigene:222235 semapv:UnspecifiedMatching OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:FBXL14 semapv:UnspecifiedMatching OMIM:609081 FBXL14 skos:exactMatch ncbigene:144699 semapv:UnspecifiedMatching -OMIM:609082 FBXL16 skos:exactMatch ncbigene:146330 semapv:UnspecifiedMatching OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:FBXL16 semapv:UnspecifiedMatching -OMIM:609083 FBXL17 skos:exactMatch ncbigene:64839 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch ncbigene:146330 semapv:UnspecifiedMatching OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:FBXL17 semapv:UnspecifiedMatching -OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:FBXL18 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch ncbigene:64839 semapv:UnspecifiedMatching OMIM:609084 FBXL18 skos:exactMatch ncbigene:80028 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:FBXL18 semapv:UnspecifiedMatching OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:FBXL19 semapv:UnspecifiedMatching OMIM:609085 FBXL19 skos:exactMatch ncbigene:54620 semapv:UnspecifiedMatching OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:FBXL20 semapv:UnspecifiedMatching OMIM:609086 FBXL20 skos:exactMatch ncbigene:84961 semapv:UnspecifiedMatching OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:FBXL21P semapv:UnspecifiedMatching OMIM:609087 FBXL21 skos:exactMatch ncbigene:26223 semapv:UnspecifiedMatching -OMIM:609088 FBXL22 skos:exactMatch ncbigene:283807 semapv:UnspecifiedMatching OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:FBXL22 semapv:UnspecifiedMatching -OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:FBXO3 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch ncbigene:283807 semapv:UnspecifiedMatching OMIM:609089 FBXO3 skos:exactMatch ncbigene:26273 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:FBXO3 semapv:UnspecifiedMatching OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:FBXO4 semapv:UnspecifiedMatching OMIM:609090 FBXO4 skos:exactMatch ncbigene:26272 semapv:UnspecifiedMatching OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:FBXO9 semapv:UnspecifiedMatching OMIM:609091 FBXO9 skos:exactMatch ncbigene:26268 semapv:UnspecifiedMatching -OMIM:609092 FBXO10 skos:exactMatch ncbigene:26267 semapv:UnspecifiedMatching OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:FBXO10 semapv:UnspecifiedMatching -OMIM:609093 FBXO15 skos:exactMatch ncbigene:201456 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch ncbigene:26267 semapv:UnspecifiedMatching OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:FBXO15 semapv:UnspecifiedMatching -OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:FBXO17 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch ncbigene:201456 semapv:UnspecifiedMatching OMIM:609094 FBXO17 skos:exactMatch ncbigene:115290 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:FBXO17 semapv:UnspecifiedMatching OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:FBXO21 semapv:UnspecifiedMatching OMIM:609095 FBXO21 skos:exactMatch ncbigene:23014 semapv:UnspecifiedMatching OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:FBXO22 semapv:UnspecifiedMatching @@ -26498,28 +26502,28 @@ OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:FBXO24 semapv:UnspecifiedMatching OMIM:609097 FBXO24 skos:exactMatch ncbigene:26261 semapv:UnspecifiedMatching OMIM:609098 FBXO25 skos:exactMatch ncbigene:26260 semapv:UnspecifiedMatching OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:FBXO25 semapv:UnspecifiedMatching -OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:FBXO27 semapv:UnspecifiedMatching OMIM:609099 FBXO27 skos:exactMatch ncbigene:126433 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:FBXO27 semapv:UnspecifiedMatching OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:FBXO28 semapv:UnspecifiedMatching OMIM:609100 FBXO28 skos:exactMatch ncbigene:23219 semapv:UnspecifiedMatching OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:FBXO30 semapv:UnspecifiedMatching OMIM:609101 FBXO30 skos:exactMatch ncbigene:84085 semapv:UnspecifiedMatching OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:FBXO31 semapv:UnspecifiedMatching OMIM:609102 FBXO31 skos:exactMatch ncbigene:79791 semapv:UnspecifiedMatching -OMIM:609103 FBXO33 skos:exactMatch ncbigene:254170 semapv:UnspecifiedMatching OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:FBXO33 semapv:UnspecifiedMatching -OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:FBXO34 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch ncbigene:254170 semapv:UnspecifiedMatching OMIM:609104 FBXO34 skos:exactMatch ncbigene:55030 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:FBXO34 semapv:UnspecifiedMatching OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:FBXO36 semapv:UnspecifiedMatching OMIM:609105 FBXO36 skos:exactMatch ncbigene:130888 semapv:UnspecifiedMatching OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:FBXO39 semapv:UnspecifiedMatching OMIM:609106 FBXO39 skos:exactMatch ncbigene:162517 semapv:UnspecifiedMatching OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:FBXO40 semapv:UnspecifiedMatching OMIM:609107 FBXO40 skos:exactMatch ncbigene:51725 semapv:UnspecifiedMatching -OMIM:609108 FBXO41 skos:exactMatch ncbigene:150726 semapv:UnspecifiedMatching OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:FBXO41 semapv:UnspecifiedMatching -OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:FBXO42 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch ncbigene:150726 semapv:UnspecifiedMatching OMIM:609109 FBXO42 skos:exactMatch ncbigene:54455 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:FBXO42 semapv:UnspecifiedMatching OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:FBXO43 semapv:UnspecifiedMatching OMIM:609110 FBXO43 skos:exactMatch ncbigene:286151 semapv:UnspecifiedMatching OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:FBXO44 semapv:UnspecifiedMatching @@ -26535,12 +26539,12 @@ OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:PDCD10 semapv:UnspecifiedMatching OMIM:609118 PDCD10 skos:exactMatch ncbigene:11235 semapv:UnspecifiedMatching OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:THAP11 semapv:UnspecifiedMatching OMIM:609119 THAP11 skos:exactMatch ncbigene:57215 semapv:UnspecifiedMatching -OMIM:609120 CATSPER3 skos:exactMatch ncbigene:347732 semapv:UnspecifiedMatching OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:CATSPER3 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch ncbigene:347732 semapv:UnspecifiedMatching OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:CATSPER4 semapv:UnspecifiedMatching OMIM:609121 CATSPER4 skos:exactMatch ncbigene:378807 semapv:UnspecifiedMatching -OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching OMIM:609123 ATP8B4 skos:exactMatch ncbigene:79895 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:ZNF385A semapv:UnspecifiedMatching OMIM:609124 ZNF385A skos:exactMatch ncbigene:25946 semapv:UnspecifiedMatching OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:MOSPD3 semapv:UnspecifiedMatching @@ -26549,43 +26553,43 @@ OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:ATP9A semapv:UnspecifiedMatching OMIM:609126 ATP9A skos:exactMatch ncbigene:10079 semapv:UnspecifiedMatching OMIM:609130 CENPS skos:exactMatch hgnc.symbol:CENPS semapv:UnspecifiedMatching OMIM:609130 CENPS skos:exactMatch ncbigene:378708 semapv:UnspecifiedMatching -OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:CLDN7 semapv:UnspecifiedMatching OMIM:609131 CLDN7 skos:exactMatch ncbigene:1366 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:CLDN7 semapv:UnspecifiedMatching OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:KDM1A semapv:UnspecifiedMatching OMIM:609132 KDM1A skos:exactMatch ncbigene:23028 semapv:UnspecifiedMatching -OMIM:609133 FIZ1 skos:exactMatch ncbigene:84922 semapv:UnspecifiedMatching OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:FIZ1 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch ncbigene:23304 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch ncbigene:84922 semapv:UnspecifiedMatching OMIM:609134 UBR2 skos:exactMatch UMLS:C1540154 semapv:UnspecifiedMatching OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:UBR2 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch ncbigene:23304 semapv:UnspecifiedMatching OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:RTP1 semapv:UnspecifiedMatching OMIM:609137 RTP1 skos:exactMatch ncbigene:132112 semapv:UnspecifiedMatching -OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:RTP2 semapv:UnspecifiedMatching OMIM:609138 RTP2 skos:exactMatch ncbigene:344892 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:RTP2 semapv:UnspecifiedMatching OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:REEP1 semapv:UnspecifiedMatching OMIM:609139 REEP1 skos:exactMatch ncbigene:65055 semapv:UnspecifiedMatching OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:CEACAM3 semapv:UnspecifiedMatching OMIM:609142 CEACAM3 skos:exactMatch ncbigene:1084 semapv:UnspecifiedMatching -OMIM:609144 FLVCR1 skos:exactMatch ncbigene:28982 semapv:UnspecifiedMatching OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:FLVCR1 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch ncbigene:28982 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch ncbigene:23114 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch hgnc.symbol:NFASC semapv:UnspecifiedMatching OMIM:609145 NFASC skos:exactMatch UMLS:C1826398 semapv:UnspecifiedMatching OMIM:609145 NFASC skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch hgnc.symbol:NFASC semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch ncbigene:23114 semapv:UnspecifiedMatching OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:RIC8A semapv:UnspecifiedMatching OMIM:609146 RIC8A skos:exactMatch ncbigene:60626 semapv:UnspecifiedMatching OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:RIC8B semapv:UnspecifiedMatching OMIM:609147 RIC8B skos:exactMatch ncbigene:55188 semapv:UnspecifiedMatching -OMIM:609149 SLC29A4 skos:exactMatch ncbigene:222962 semapv:UnspecifiedMatching OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:SLC29A4 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch ncbigene:222962 semapv:UnspecifiedMatching OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:CXXC1 semapv:UnspecifiedMatching OMIM:609150 CXXC1 skos:exactMatch ncbigene:30827 semapv:UnspecifiedMatching OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:UBXN11 semapv:UnspecifiedMatching OMIM:609151 UBXN11 skos:exactMatch ncbigene:91544 semapv:UnspecifiedMatching OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:ASCL3 semapv:UnspecifiedMatching OMIM:609154 ASCL3 skos:exactMatch ncbigene:56676 semapv:UnspecifiedMatching -OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:ASCL4 semapv:UnspecifiedMatching OMIM:609155 ASCL4 skos:exactMatch ncbigene:121549 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:ASCL4 semapv:UnspecifiedMatching OMIM:609156 NCLN skos:exactMatch ncbigene:56926 semapv:UnspecifiedMatching OMIM:609156 NCLN skos:exactMatch hgnc.symbol:NCLN semapv:UnspecifiedMatching OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:NOMO1 semapv:UnspecifiedMatching @@ -26604,8 +26608,8 @@ OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:ERP44 semapv:UnspecifiedMatching OMIM:609170 TXNDC4 skos:exactMatch ncbigene:23071 semapv:UnspecifiedMatching OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:CDC42EP5 semapv:UnspecifiedMatching OMIM:609171 CDC42EP5 skos:exactMatch ncbigene:148170 semapv:UnspecifiedMatching -OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:PPP1R16A semapv:UnspecifiedMatching OMIM:609172 PPP1R16A skos:exactMatch ncbigene:84988 semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:PPP1R16A semapv:UnspecifiedMatching OMIM:609173 KNL1 skos:exactMatch ncbigene:57082 semapv:UnspecifiedMatching OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:KNL1 semapv:UnspecifiedMatching OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:NSL1 semapv:UnspecifiedMatching @@ -26624,54 +26628,54 @@ OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:SLC35D2 semapv:UnspecifiedMatchi OMIM:609182 SLC35D2 skos:exactMatch ncbigene:11046 semapv:UnspecifiedMatching OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:AURKAIP1 semapv:UnspecifiedMatching OMIM:609183 AURKAIP1 skos:exactMatch ncbigene:54998 semapv:UnspecifiedMatching -OMIM:609184 KIF4B skos:exactMatch ncbigene:285643 semapv:UnspecifiedMatching OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:KIF4B semapv:UnspecifiedMatching -OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:ZHX2 semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch ncbigene:285643 semapv:UnspecifiedMatching OMIM:609185 ZHX2 skos:exactMatch ncbigene:22882 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:ZHX2 semapv:UnspecifiedMatching OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:D2HGDH semapv:UnspecifiedMatching OMIM:609186 D2HGDH skos:exactMatch ncbigene:728294 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:SUGCT semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch ncbigene:79783 semapv:UnspecifiedMatching OMIM:609187 SUGCT skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching OMIM:609187 SUGCT skos:exactMatch UMLS:C1423901 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:MPLKIP semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:SUGCT semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch ncbigene:79783 semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch ncbigene:136647 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:MPLKIP semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch UMLS:C1313961 semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch UMLS:C1423902 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch ncbigene:25842 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:ASF1A semapv:UnspecifiedMatching OMIM:609189 ASF1A skos:exactMatch UMLS:C1427233 semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:ASF1A semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch ncbigene:25842 semapv:UnspecifiedMatching OMIM:609190 ASF1B skos:exactMatch UMLS:C1427234 semapv:UnspecifiedMatching OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:ASF1B semapv:UnspecifiedMatching OMIM:609190 ASF1B skos:exactMatch ncbigene:55723 semapv:UnspecifiedMatching -OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:AKIP1 semapv:UnspecifiedMatching OMIM:609191 AKIP1 skos:exactMatch ncbigene:56672 semapv:UnspecifiedMatching -OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:LRR1 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:AKIP1 semapv:UnspecifiedMatching OMIM:609193 LRR1 skos:exactMatch ncbigene:122769 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:LRR1 semapv:UnspecifiedMatching OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:CABLES1 semapv:UnspecifiedMatching OMIM:609194 CABLES1 skos:exactMatch ncbigene:91768 semapv:UnspecifiedMatching -OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching OMIM:609196 MRAP skos:exactMatch hgnc.symbol:MRAP semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:ADAMTSL1 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch ncbigene:92949 semapv:UnspecifiedMatching OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:ADAMTSL3 semapv:UnspecifiedMatching OMIM:609199 ADAMTSL3 skos:exactMatch ncbigene:57188 semapv:UnspecifiedMatching -OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:UBASH3B semapv:UnspecifiedMatching OMIM:609201 UBASH3B skos:exactMatch ncbigene:84959 semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:UBASH3B semapv:UnspecifiedMatching OMIM:609202 SCGN skos:exactMatch hgnc.symbol:SCGN semapv:UnspecifiedMatching OMIM:609202 SCGN skos:exactMatch ncbigene:10590 semapv:UnspecifiedMatching -OMIM:609203 CLDN23 skos:exactMatch ncbigene:137075 semapv:UnspecifiedMatching OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:CLDN23 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch ncbigene:137075 semapv:UnspecifiedMatching OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:MRPS16 semapv:UnspecifiedMatching OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch ncbigene:51021 semapv:UnspecifiedMatching OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:DAB2IP semapv:UnspecifiedMatching OMIM:609205 DAB2IP skos:exactMatch ncbigene:153090 semapv:UnspecifiedMatching OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:EEF1E1 semapv:UnspecifiedMatching OMIM:609206 EEF1E1 skos:exactMatch ncbigene:9521 semapv:UnspecifiedMatching -OMIM:609207 MREG skos:exactMatch hgnc.symbol:MREG semapv:UnspecifiedMatching OMIM:609207 MREG skos:exactMatch ncbigene:55686 semapv:UnspecifiedMatching -OMIM:609208 KAZALD1 skos:exactMatch ncbigene:81621 semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch hgnc.symbol:MREG semapv:UnspecifiedMatching OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:KAZALD1 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch ncbigene:81621 semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C1424660 semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:IVNS1ABP semapv:UnspecifiedMatching @@ -26680,20 +26684,20 @@ OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:CLDN18 semapv:UnspecifiedMatching OMIM:609210 CLDN18 skos:exactMatch ncbigene:51208 semapv:UnspecifiedMatching OMIM:609211 MYL12B skos:exactMatch ncbigene:103910 semapv:UnspecifiedMatching OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:MYL12B semapv:UnspecifiedMatching -OMIM:609212 ASRGL1 skos:exactMatch ncbigene:80150 semapv:UnspecifiedMatching OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:ASRGL1 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch ncbigene:80150 semapv:UnspecifiedMatching OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:SEC61A1 semapv:UnspecifiedMatching OMIM:609213 SEC61A1 skos:exactMatch ncbigene:29927 semapv:UnspecifiedMatching OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:SEC61B semapv:UnspecifiedMatching OMIM:609214 SEC61B skos:exactMatch ncbigene:10952 semapv:UnspecifiedMatching OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:SEC61G semapv:UnspecifiedMatching OMIM:609215 SEC61G skos:exactMatch ncbigene:23480 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch ncbigene:56907 semapv:UnspecifiedMatching OMIM:609216 SPIRE1 skos:exactMatch UMLS:C1539844 semapv:UnspecifiedMatching OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:SPIRE1 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch ncbigene:56907 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch ncbigene:84501 semapv:UnspecifiedMatching OMIM:609217 SPIRE2 skos:exactMatch UMLS:C1539845 semapv:UnspecifiedMatching OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:SPIRE2 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch ncbigene:84501 semapv:UnspecifiedMatching OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:NUDT14 semapv:UnspecifiedMatching OMIM:609219 NUDT14 skos:exactMatch ncbigene:256281 semapv:UnspecifiedMatching OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:NAT10 semapv:UnspecifiedMatching @@ -26701,18 +26705,18 @@ OMIM:609221 NAT10 skos:exactMatch ncbigene:55226 semapv:UnspecifiedMatching OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching OMIM:609224 WIPI1 skos:exactMatch ncbigene:55062 semapv:UnspecifiedMatching OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:WIPI1 semapv:UnspecifiedMatching -OMIM:609225 WIPI2 skos:exactMatch ncbigene:26100 semapv:UnspecifiedMatching OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:WIPI2 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch ncbigene:26100 semapv:UnspecifiedMatching OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:WDR45B semapv:UnspecifiedMatching OMIM:609226 WDR45B skos:exactMatch ncbigene:56270 semapv:UnspecifiedMatching OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:NUDT3 semapv:UnspecifiedMatching OMIM:609228 NUDT3 skos:exactMatch ncbigene:11165 semapv:UnspecifiedMatching OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:NUDT4 semapv:UnspecifiedMatching OMIM:609229 NUDT4 skos:exactMatch ncbigene:11163 semapv:UnspecifiedMatching -OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:NUDT5 semapv:UnspecifiedMatching OMIM:609230 NUDT5 skos:exactMatch ncbigene:11164 semapv:UnspecifiedMatching -OMIM:609231 NUDT7 skos:exactMatch ncbigene:283927 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:NUDT5 semapv:UnspecifiedMatching OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:NUDT7 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch ncbigene:283927 semapv:UnspecifiedMatching OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:NUDT12 semapv:UnspecifiedMatching OMIM:609232 NUDT12 skos:exactMatch ncbigene:83594 semapv:UnspecifiedMatching OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:NUDT13 semapv:UnspecifiedMatching @@ -26721,39 +26725,39 @@ OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:EIF2A semapv:UnspecifiedMatching OMIM:609234 EIF2A skos:exactMatch ncbigene:83939 semapv:UnspecifiedMatching OMIM:609235 BRSK1 skos:exactMatch ncbigene:84446 semapv:UnspecifiedMatching OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:BRSK1 semapv:UnspecifiedMatching -OMIM:609236 BRSK2 skos:exactMatch ncbigene:9024 semapv:UnspecifiedMatching OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:BRSK2 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch ncbigene:9024 semapv:UnspecifiedMatching OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:IQCB1 semapv:UnspecifiedMatching OMIM:609237 IQCB1 skos:exactMatch ncbigene:9657 semapv:UnspecifiedMatching OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:RABGAP1L semapv:UnspecifiedMatching OMIM:609238 RABGAP1L skos:exactMatch ncbigene:9910 semapv:UnspecifiedMatching OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:LPAR6 semapv:UnspecifiedMatching OMIM:609239 LPAR6 skos:exactMatch ncbigene:10161 semapv:UnspecifiedMatching -OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:HASPIN semapv:UnspecifiedMatching OMIM:609240 HASPIN skos:exactMatch ncbigene:83903 semapv:UnspecifiedMatching -OMIM:609243 RAET1E skos:exactMatch ncbigene:135250 semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:HASPIN semapv:UnspecifiedMatching OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:RAET1E semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch ncbigene:135250 semapv:UnspecifiedMatching OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:RAET1G semapv:UnspecifiedMatching OMIM:609244 RAET1G skos:exactMatch ncbigene:353091 semapv:UnspecifiedMatching OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:GPSM2 semapv:UnspecifiedMatching OMIM:609245 GPSM2 skos:exactMatch ncbigene:29899 semapv:UnspecifiedMatching OMIM:609246 PDXP skos:exactMatch hgnc.symbol:PDXP semapv:UnspecifiedMatching OMIM:609246 PDXP skos:exactMatch ncbigene:57026 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:RNF13 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch ncbigene:11342 semapv:UnspecifiedMatching OMIM:609247 RNF13 skos:exactMatch UMLS:C1419415 semapv:UnspecifiedMatching OMIM:609247 RNF13 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:RNF13 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch ncbigene:11342 semapv:UnspecifiedMatching OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:HERC4 semapv:UnspecifiedMatching OMIM:609248 HERC4 skos:exactMatch ncbigene:26091 semapv:UnspecifiedMatching OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:HERC6 semapv:UnspecifiedMatching OMIM:609249 HERC6 skos:exactMatch ncbigene:55008 semapv:UnspecifiedMatching OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:FCRLB semapv:UnspecifiedMatching OMIM:609251 FCRLB skos:exactMatch ncbigene:127943 semapv:UnspecifiedMatching -OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching OMIM:609252 LIPI skos:exactMatch ncbigene:149998 semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching -OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch hgnc.symbol:CRBN semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch ncbigene:51185 semapv:UnspecifiedMatching OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:SEH1L semapv:UnspecifiedMatching @@ -26791,19 +26795,19 @@ OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:MOB1B semapv:UnspecifiedMatching OMIM:609282 MOB1B skos:exactMatch ncbigene:92597 semapv:UnspecifiedMatching OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:609284 nemaline myopathy 1 skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching -OMIM:609284 nemaline myopathy 1 skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching -OMIM:609284 nemaline myopathy 1 skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching -OMIM:609284 nemaline myopathy 1 skos:exactMatch UMLS:C3714994 semapv:UnspecifiedMatching -OMIM:609284 nemaline myopathy 1 skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C3714994 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:SH3GLB1 semapv:UnspecifiedMatching OMIM:609287 SH3GLB1 skos:exactMatch ncbigene:51100 semapv:UnspecifiedMatching OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:SH3GLB2 semapv:UnspecifiedMatching OMIM:609288 SH3GLB2 skos:exactMatch ncbigene:56904 semapv:UnspecifiedMatching -OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching OMIM:609290 AK3 skos:exactMatch hgnc.symbol:AK3 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching OMIM:609291 SPRED1 skos:exactMatch ncbigene:161742 semapv:UnspecifiedMatching OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:SPRED1 semapv:UnspecifiedMatching OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:SPRED2 semapv:UnspecifiedMatching @@ -26813,8 +26817,8 @@ OMIM:609293 SPRED3 skos:exactMatch ncbigene:399473 semapv:UnspecifiedMatching OMIM:609294 SEMA6C skos:exactMatch UMLS:C1419958 semapv:UnspecifiedMatching OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:SEMA6C semapv:UnspecifiedMatching OMIM:609294 SEMA6C skos:exactMatch ncbigene:10500 semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:SEMA6D semapv:UnspecifiedMatching OMIM:609295 SEMA6D skos:exactMatch ncbigene:80031 semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:SEMA6D semapv:UnspecifiedMatching OMIM:609295 SEMA6D skos:exactMatch UMLS:C1539745 semapv:UnspecifiedMatching OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:SEMA5A semapv:UnspecifiedMatching OMIM:609297 SEMA5A skos:exactMatch ncbigene:9037 semapv:UnspecifiedMatching @@ -26830,43 +26834,43 @@ OMIM:609302 SLC25A22 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching OMIM:609302 SLC25A22 skos:exactMatch UMLS:C1426556 semapv:UnspecifiedMatching OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:SLC25A18 semapv:UnspecifiedMatching OMIM:609303 SLC25A18 skos:exactMatch ncbigene:83733 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching -OMIM:609305 LXN skos:exactMatch hgnc.symbol:LXN semapv:UnspecifiedMatching OMIM:609305 LXN skos:exactMatch ncbigene:56925 semapv:UnspecifiedMatching -OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch hgnc.symbol:LXN semapv:UnspecifiedMatching OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C4017191 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching +OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C0879290 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C4017191 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch ncbigene:4436 semapv:UnspecifiedMatching -OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching OMIM:609312 DBH skos:exactMatch hgnc.symbol:DBH semapv:UnspecifiedMatching -OMIM:609313 mednik syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching OMIM:609313 mednik syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching +OMIM:609313 mednik syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:RSPH1 semapv:UnspecifiedMatching OMIM:609314 RSPH1 skos:exactMatch ncbigene:89765 semapv:UnspecifiedMatching OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:TRIM7 semapv:UnspecifiedMatching OMIM:609315 TRIM7 skos:exactMatch ncbigene:81786 semapv:UnspecifiedMatching OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:TRIM31 semapv:UnspecifiedMatching OMIM:609316 TRIM31 skos:exactMatch ncbigene:11074 semapv:UnspecifiedMatching -OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:TRIM36 semapv:UnspecifiedMatching -OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching OMIM:609318 TRIM45 skos:exactMatch ncbigene:80263 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C1822613 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:SASS6 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch ncbigene:163786 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:OLIG3 semapv:UnspecifiedMatching OMIM:609323 OLIG3 skos:exactMatch ncbigene:167826 semapv:UnspecifiedMatching OMIM:609326 MIR1-1 skos:exactMatch UMLS:C1537699 semapv:UnspecifiedMatching @@ -26874,10 +26878,10 @@ OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:MIR1-1 semapv:UnspecifiedMatching OMIM:609326 MIR1-1 skos:exactMatch ncbigene:406904 semapv:UnspecifiedMatching OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:MIR124-1 semapv:UnspecifiedMatching OMIM:609327 MIR124-1 skos:exactMatch ncbigene:406907 semapv:UnspecifiedMatching -OMIM:609328 UCK1 skos:exactMatch ncbigene:83549 semapv:UnspecifiedMatching OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:UCK1 semapv:UnspecifiedMatching -OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:UCK2 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch ncbigene:83549 semapv:UnspecifiedMatching OMIM:609329 UCK2 skos:exactMatch ncbigene:7371 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:UCK2 semapv:UnspecifiedMatching OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:OIT3 semapv:UnspecifiedMatching OMIM:609330 OIT3 skos:exactMatch ncbigene:170392 semapv:UnspecifiedMatching OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:BHLHE23 semapv:UnspecifiedMatching @@ -26896,9 +26900,9 @@ OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:TPSG1 semapv:UnspecifiedMatching OMIM:609341 TPSG1 skos:exactMatch ncbigene:25823 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch ncbigene:2694 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:CBLIF semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch UMLS:C4017193 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch UMLS:C1415066 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch UMLS:C4017193 semapv:UnspecifiedMatching OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:PRSS22 semapv:UnspecifiedMatching OMIM:609343 PRSS22 skos:exactMatch ncbigene:64063 semapv:UnspecifiedMatching OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:KCP semapv:UnspecifiedMatching @@ -26913,86 +26917,86 @@ OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:REEP4 semapv:UnspecifiedMatching OMIM:609349 REEP4 skos:exactMatch ncbigene:80346 semapv:UnspecifiedMatching OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:RTP4 semapv:UnspecifiedMatching OMIM:609350 RTP4 skos:exactMatch ncbigene:64108 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch ncbigene:115761 semapv:UnspecifiedMatching OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:ARL11 semapv:UnspecifiedMatching OMIM:609351 ARL11 skos:exactMatch UMLS:C1428339 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch ncbigene:115761 semapv:UnspecifiedMatching OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:ESCO2 semapv:UnspecifiedMatching OMIM:609353 ESCO2 skos:exactMatch ncbigene:157570 semapv:UnspecifiedMatching -OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching OMIM:609355 MIR32 skos:exactMatch ncbigene:407036 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:NUFIP2 semapv:UnspecifiedMatching OMIM:609356 NUFIP2 skos:exactMatch ncbigene:57532 semapv:UnspecifiedMatching OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:MCM10 semapv:UnspecifiedMatching OMIM:609357 MCM10 skos:exactMatch ncbigene:55388 semapv:UnspecifiedMatching OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:ETV2 semapv:UnspecifiedMatching OMIM:609358 ETV2 skos:exactMatch ncbigene:2116 semapv:UnspecifiedMatching -OMIM:609359 HS1BP3 skos:exactMatch ncbigene:64342 semapv:UnspecifiedMatching OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:HS1BP3 semapv:UnspecifiedMatching -OMIM:609360 RNLS skos:exactMatch hgnc.symbol:RNLS semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch ncbigene:64342 semapv:UnspecifiedMatching OMIM:609360 RNLS skos:exactMatch ncbigene:55328 semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch hgnc.symbol:RNLS semapv:UnspecifiedMatching OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:MOB4 semapv:UnspecifiedMatching OMIM:609361 MOB4 skos:exactMatch ncbigene:25843 semapv:UnspecifiedMatching OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:PLA2G15 semapv:UnspecifiedMatching OMIM:609362 LYPLA3 skos:exactMatch ncbigene:23659 semapv:UnspecifiedMatching -OMIM:609364 NLRP2 skos:exactMatch ncbigene:55655 semapv:UnspecifiedMatching OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:NLRP2 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch ncbigene:55655 semapv:UnspecifiedMatching OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:GNL2 semapv:UnspecifiedMatching OMIM:609365 GNL2 skos:exactMatch ncbigene:29889 semapv:UnspecifiedMatching -OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:CTR9 semapv:UnspecifiedMatching OMIM:609366 CTR9 skos:exactMatch ncbigene:9646 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:CTR9 semapv:UnspecifiedMatching OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:KIFBP semapv:UnspecifiedMatching OMIM:609367 KIFBP skos:exactMatch ncbigene:26128 semapv:UnspecifiedMatching -OMIM:609368 ATL2 skos:exactMatch ncbigene:64225 semapv:UnspecifiedMatching OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:ATL2 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch ncbigene:25923 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:ATL3 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch ncbigene:64225 semapv:UnspecifiedMatching OMIM:609369 ATL3 skos:exactMatch UMLS:C1836273 semapv:UnspecifiedMatching OMIM:609369 ATL3 skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching -OMIM:609370 STK35 skos:exactMatch hgnc.symbol:STK35 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:ATL3 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch ncbigene:25923 semapv:UnspecifiedMatching OMIM:609370 STK35 skos:exactMatch ncbigene:140901 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch hgnc.symbol:STK35 semapv:UnspecifiedMatching OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:FAM13B semapv:UnspecifiedMatching OMIM:609371 C5ORF5 skos:exactMatch ncbigene:51306 semapv:UnspecifiedMatching OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:FAM53C semapv:UnspecifiedMatching OMIM:609372 FAM53C skos:exactMatch ncbigene:51307 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch ncbigene:51780 semapv:UnspecifiedMatching OMIM:609373 KDM3B skos:exactMatch UMLS:C1413012 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:KDM3B semapv:UnspecifiedMatching -OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:CDCA5 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch ncbigene:51780 semapv:UnspecifiedMatching OMIM:609374 CDCA5 skos:exactMatch ncbigene:113130 semapv:UnspecifiedMatching -OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:CDCA5 semapv:UnspecifiedMatching OMIM:609375 LIN9 skos:exactMatch ncbigene:286826 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch hgnc.symbol:ACD semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch ncbigene:65057 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:LCN6 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch ncbigene:158062 semapv:UnspecifiedMatching -OMIM:609380 LMLN skos:exactMatch ncbigene:89782 semapv:UnspecifiedMatching OMIM:609380 LMLN skos:exactMatch hgnc.symbol:LMLN semapv:UnspecifiedMatching -OMIM:609381 STXBP5L skos:exactMatch ncbigene:9515 semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch ncbigene:89782 semapv:UnspecifiedMatching OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:STXBP5L semapv:UnspecifiedMatching -OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:IER3IP1 semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch ncbigene:9515 semapv:UnspecifiedMatching OMIM:609382 IER3IP1 skos:exactMatch ncbigene:51124 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:IER3IP1 semapv:UnspecifiedMatching OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:NIPAL4 semapv:UnspecifiedMatching OMIM:609383 NIPAL4 skos:exactMatch ncbigene:348938 semapv:UnspecifiedMatching OMIM:609385 DND1 skos:exactMatch hgnc.symbol:DND1 semapv:UnspecifiedMatching OMIM:609385 DND1 skos:exactMatch ncbigene:373863 semapv:UnspecifiedMatching OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:SMC5 semapv:UnspecifiedMatching OMIM:609386 SMC5 skos:exactMatch ncbigene:23137 semapv:UnspecifiedMatching -OMIM:609387 SMC6 skos:exactMatch ncbigene:79677 semapv:UnspecifiedMatching OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:SMC6 semapv:UnspecifiedMatching -OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:METTL9 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch ncbigene:79677 semapv:UnspecifiedMatching OMIM:609388 METTL9 skos:exactMatch ncbigene:51108 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:METTL9 semapv:UnspecifiedMatching OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:INPP5F semapv:UnspecifiedMatching OMIM:609389 INPP5F skos:exactMatch ncbigene:22876 semapv:UnspecifiedMatching OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:FIG4 semapv:UnspecifiedMatching OMIM:609390 FIG4 skos:exactMatch ncbigene:9896 semapv:UnspecifiedMatching -OMIM:609391 SP5 skos:exactMatch ncbigene:389058 semapv:UnspecifiedMatching OMIM:609391 SP5 skos:exactMatch hgnc.symbol:SP5 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch ncbigene:51274 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch ncbigene:389058 semapv:UnspecifiedMatching OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:KLF3 semapv:UnspecifiedMatching OMIM:609392 KLF3 skos:exactMatch UMLS:C1424346 semapv:UnspecifiedMatching -OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:KLF14 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch ncbigene:51274 semapv:UnspecifiedMatching OMIM:609393 KLF14 skos:exactMatch ncbigene:136259 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:KLF14 semapv:UnspecifiedMatching OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:SPC24 semapv:UnspecifiedMatching OMIM:609394 SPC24 skos:exactMatch ncbigene:147841 semapv:UnspecifiedMatching OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:SPC25 semapv:UnspecifiedMatching @@ -27001,79 +27005,79 @@ OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:PHLPP1 semapv:UnspecifiedMatching OMIM:609396 PHLPP1 skos:exactMatch ncbigene:23239 semapv:UnspecifiedMatching OMIM:609397 STOX1 skos:exactMatch ncbigene:219736 semapv:UnspecifiedMatching OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:STOX1 semapv:UnspecifiedMatching -OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:ATP6V1D semapv:UnspecifiedMatching OMIM:609398 ATP6V1D skos:exactMatch ncbigene:51382 semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:ATP6V1D semapv:UnspecifiedMatching OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:SPESP1 semapv:UnspecifiedMatching OMIM:609399 SPESP1 skos:exactMatch ncbigene:246777 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:HS6ST3 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch ncbigene:266722 semapv:UnspecifiedMatching OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:ARHGAP8 semapv:UnspecifiedMatching OMIM:609405 ARHGAP8 skos:exactMatch ncbigene:23779 semapv:UnspecifiedMatching -OMIM:609406 PRR5 skos:exactMatch ncbigene:55615 semapv:UnspecifiedMatching OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:PRR5 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch ncbigene:55615 semapv:UnspecifiedMatching OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:HS3ST5 semapv:UnspecifiedMatching OMIM:609407 HS3ST5 skos:exactMatch ncbigene:222537 semapv:UnspecifiedMatching -OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching OMIM:609409 HNRNPA0 skos:exactMatch ncbigene:10949 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:SYNJ2 semapv:UnspecifiedMatching OMIM:609410 SYNJ2 skos:exactMatch ncbigene:8871 semapv:UnspecifiedMatching OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:SYNJ2BP semapv:UnspecifiedMatching OMIM:609411 SYNJ2BP skos:exactMatch ncbigene:55333 semapv:UnspecifiedMatching OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:ERCC8 semapv:UnspecifiedMatching OMIM:609412 ERCC8 skos:exactMatch ncbigene:1161 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch ncbigene:2074 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:ERCC6 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C4017197 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C1426221 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C1366757 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C2674950 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C2674950 semapv:UnspecifiedMatching OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:PIKFYVE semapv:UnspecifiedMatching OMIM:609414 PIKFYVE skos:exactMatch ncbigene:200576 semapv:UnspecifiedMatching OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:MIR17HG semapv:UnspecifiedMatching OMIM:609415 MIR17HG skos:exactMatch ncbigene:407975 semapv:UnspecifiedMatching -OMIM:609416 MIR17 skos:exactMatch ncbigene:406952 semapv:UnspecifiedMatching OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:MIR17 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch ncbigene:406952 semapv:UnspecifiedMatching OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:MIR18A semapv:UnspecifiedMatching OMIM:609417 MIR18A skos:exactMatch ncbigene:406953 semapv:UnspecifiedMatching -OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:MIR19A semapv:UnspecifiedMatching OMIM:609418 MIR19A skos:exactMatch ncbigene:406979 semapv:UnspecifiedMatching -OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:MIR19B1 semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:MIR19A semapv:UnspecifiedMatching OMIM:609419 MIR19B1 skos:exactMatch ncbigene:406980 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:MIR19B1 semapv:UnspecifiedMatching OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:MIR20A semapv:UnspecifiedMatching OMIM:609420 MIR20A skos:exactMatch ncbigene:406982 semapv:UnspecifiedMatching -OMIM:609422 MIR92A1 skos:exactMatch ncbigene:407048 semapv:UnspecifiedMatching OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:MIR92A1 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch ncbigene:149041 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:RC3H1 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch ncbigene:407048 semapv:UnspecifiedMatching OMIM:609424 RC3H1 skos:exactMatch UMLS:C1826784 semapv:UnspecifiedMatching -OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:MINK1 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:RC3H1 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch ncbigene:149041 semapv:UnspecifiedMatching OMIM:609426 MINK1 skos:exactMatch ncbigene:50488 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:MINK1 semapv:UnspecifiedMatching OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:LHFPL5 semapv:UnspecifiedMatching OMIM:609427 LHFPL5 skos:exactMatch ncbigene:222662 semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:FOXN4 semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch ncbigene:121643 semapv:UnspecifiedMatching -OMIM:609430 NPAS3 skos:exactMatch ncbigene:64067 semapv:UnspecifiedMatching OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:NPAS3 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch ncbigene:64067 semapv:UnspecifiedMatching OMIM:609431 MBIP skos:exactMatch hgnc.symbol:MBIP semapv:UnspecifiedMatching OMIM:609431 MBIP skos:exactMatch ncbigene:51562 semapv:UnspecifiedMatching -OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:UIMC1 semapv:UnspecifiedMatching OMIM:609433 UIMC1 skos:exactMatch ncbigene:51720 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:UIMC1 semapv:UnspecifiedMatching OMIM:609434 LUC7L3 skos:exactMatch UMLS:C1836205 semapv:UnspecifiedMatching OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:LUC7L3 semapv:UnspecifiedMatching OMIM:609434 LUC7L3 skos:exactMatch ncbigene:51747 semapv:UnspecifiedMatching OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:NDUFA13 semapv:UnspecifiedMatching OMIM:609435 NDUFA13 skos:exactMatch ncbigene:51079 semapv:UnspecifiedMatching -OMIM:609436 FGF21 skos:exactMatch ncbigene:26291 semapv:UnspecifiedMatching OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:FGF21 semapv:UnspecifiedMatching -OMIM:609437 STK40 skos:exactMatch hgnc.symbol:STK40 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch ncbigene:26291 semapv:UnspecifiedMatching OMIM:609437 STK40 skos:exactMatch ncbigene:83931 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch hgnc.symbol:STK40 semapv:UnspecifiedMatching OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:UTP11 semapv:UnspecifiedMatching OMIM:609440 UTP11L skos:exactMatch ncbigene:51118 semapv:UnspecifiedMatching OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching @@ -27083,18 +27087,18 @@ OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:CELA2A semapv:UnspecifiedMatching OMIM:609443 CELA2A skos:exactMatch ncbigene:63036 semapv:UnspecifiedMatching OMIM:609444 CELA2B skos:exactMatch ncbigene:51032 semapv:UnspecifiedMatching OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:CELA2B semapv:UnspecifiedMatching -OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching OMIM:609445 RXFP3 skos:exactMatch ncbigene:51289 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:MZB1 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch ncbigene:51237 semapv:UnspecifiedMatching OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:TXNDC12 semapv:UnspecifiedMatching OMIM:609448 TXNDC12 skos:exactMatch ncbigene:51060 semapv:UnspecifiedMatching -OMIM:609449 NDE1 skos:exactMatch ncbigene:54820 semapv:UnspecifiedMatching OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:NDE1 semapv:UnspecifiedMatching -OMIM:609450 MXD3 skos:exactMatch ncbigene:83463 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch ncbigene:54820 semapv:UnspecifiedMatching OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:MXD3 semapv:UnspecifiedMatching -OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:ZFP90 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch ncbigene:83463 semapv:UnspecifiedMatching OMIM:609451 ZFP90 skos:exactMatch ncbigene:146198 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:ZFP90 semapv:UnspecifiedMatching OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:GOLGA7 semapv:UnspecifiedMatching @@ -27119,19 +27123,19 @@ OMIM:609463 MRTFB skos:exactMatch ncbigene:57496 semapv:UnspecifiedMatching OMIM:609465 al-gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching OMIM:609465 al-gazali syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:CCL3P1 semapv:UnspecifiedMatching -OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:CCL3L3 semapv:UnspecifiedMatching -OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:GBA2 semapv:UnspecifiedMatching -OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:CNGA4 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching OMIM:609472 CNGA4 skos:exactMatch ncbigene:1262 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:CNGA4 semapv:UnspecifiedMatching OMIM:609473 CGN skos:exactMatch UMLS:C1424964 semapv:UnspecifiedMatching OMIM:609473 CGN skos:exactMatch hgnc.symbol:CGN semapv:UnspecifiedMatching OMIM:609473 CGN skos:exactMatch ncbigene:57530 semapv:UnspecifiedMatching OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:NPTXR semapv:UnspecifiedMatching OMIM:609474 NPTXR skos:exactMatch ncbigene:23467 semapv:UnspecifiedMatching -OMIM:609475 AKAP8L skos:exactMatch ncbigene:26993 semapv:UnspecifiedMatching OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:AKAP8L semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch ncbigene:26993 semapv:UnspecifiedMatching OMIM:609476 NLK skos:exactMatch ncbigene:51701 semapv:UnspecifiedMatching OMIM:609476 NLK skos:exactMatch hgnc.symbol:NLK semapv:UnspecifiedMatching OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:SMCO4 semapv:UnspecifiedMatching @@ -27140,8 +27144,8 @@ OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:ST8SIA3 semapv:UnspecifiedMatchi OMIM:609478 ST8SIA3 skos:exactMatch ncbigene:51046 semapv:UnspecifiedMatching OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:MAP3K20 semapv:UnspecifiedMatching OMIM:609479 MAP3K20 skos:exactMatch ncbigene:51776 semapv:UnspecifiedMatching -OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:ISL2 semapv:UnspecifiedMatching OMIM:609481 ISL2 skos:exactMatch ncbigene:64843 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:ISL2 semapv:UnspecifiedMatching OMIM:609482 AGR3 skos:exactMatch ncbigene:155465 semapv:UnspecifiedMatching OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:AGR3 semapv:UnspecifiedMatching OMIM:609482 AGR3 skos:exactMatch UMLS:C1836117 semapv:UnspecifiedMatching @@ -27163,50 +27167,50 @@ OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch hgnc.s OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch ncbigene:440068 semapv:UnspecifiedMatching OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:GPSM1 semapv:UnspecifiedMatching OMIM:609491 GPSM1 skos:exactMatch ncbigene:26086 semapv:UnspecifiedMatching -OMIM:609492 RASSF2 skos:exactMatch ncbigene:9770 semapv:UnspecifiedMatching OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:RASSF2 semapv:UnspecifiedMatching -OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:SLC2A4RG semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch ncbigene:9770 semapv:UnspecifiedMatching OMIM:609493 SLC2A4RG skos:exactMatch ncbigene:56731 semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:SLC2A4RG semapv:UnspecifiedMatching OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:ZNF395 semapv:UnspecifiedMatching OMIM:609494 ZNF395 skos:exactMatch ncbigene:55893 semapv:UnspecifiedMatching OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:GGNBP1 semapv:UnspecifiedMatching OMIM:609495 GGNBP1 skos:exactMatch ncbigene:449520 semapv:UnspecifiedMatching -OMIM:609497 ERAP2 skos:exactMatch ncbigene:64167 semapv:UnspecifiedMatching OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:ERAP2 semapv:UnspecifiedMatching -OMIM:609498 f-box only protein 47 skos:exactMatch ncbigene:494188 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch ncbigene:64167 semapv:UnspecifiedMatching OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:FBXO47 semapv:UnspecifiedMatching -OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:MCF2L semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch ncbigene:494188 semapv:UnspecifiedMatching OMIM:609499 MCF2L skos:exactMatch ncbigene:23263 semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:MCF2L semapv:UnspecifiedMatching OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:TDRKH semapv:UnspecifiedMatching OMIM:609501 TDRKH skos:exactMatch ncbigene:11022 semapv:UnspecifiedMatching OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:CDHR1 semapv:UnspecifiedMatching OMIM:609502 CDHR1 skos:exactMatch ncbigene:92211 semapv:UnspecifiedMatching +OMIM:609503 THEG skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching OMIM:609503 THEG skos:exactMatch hgnc.symbol:THEG semapv:UnspecifiedMatching OMIM:609503 THEG skos:exactMatch ncbigene:51298 semapv:UnspecifiedMatching -OMIM:609503 THEG skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch UMLS:C1417080 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:MCRS1 semapv:UnspecifiedMatching OMIM:609504 MCRS1 skos:exactMatch ncbigene:10445 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:MCRS1 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch UMLS:C1417080 semapv:UnspecifiedMatching OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:TRIM16 semapv:UnspecifiedMatching OMIM:609505 TRIM16 skos:exactMatch ncbigene:10626 semapv:UnspecifiedMatching OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:CYP27B1 semapv:UnspecifiedMatching OMIM:609506 CYP27B1 skos:exactMatch ncbigene:1594 semapv:UnspecifiedMatching OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:TOPORS semapv:UnspecifiedMatching OMIM:609507 TOPORS skos:exactMatch ncbigene:10210 semapv:UnspecifiedMatching -OMIM:609509 IL31 skos:exactMatch ncbigene:386653 semapv:UnspecifiedMatching OMIM:609509 IL31 skos:exactMatch hgnc.symbol:IL31 semapv:UnspecifiedMatching -OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:IL31RA semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch ncbigene:386653 semapv:UnspecifiedMatching OMIM:609510 IL31RA skos:exactMatch ncbigene:133396 semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:IL31RA semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch UMLS:C1427116 semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch hgnc.symbol:RBSN semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch ncbigene:64145 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch UMLS:C1538456 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch UMLS:C1836076 semapv:UnspecifiedMatching OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:CHMP2B semapv:UnspecifiedMatching OMIM:609512 CHMP2B skos:exactMatch ncbigene:25978 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch UMLS:C1836076 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch UMLS:C1538456 semapv:UnspecifiedMatching -OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:NPS semapv:UnspecifiedMatching OMIM:609513 neuropeptide s skos:exactMatch ncbigene:594857 semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:NPS semapv:UnspecifiedMatching OMIM:609514 TAF8 skos:exactMatch UMLS:C1424885 semapv:UnspecifiedMatching OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:TAF8 semapv:UnspecifiedMatching OMIM:609514 TAF8 skos:exactMatch ncbigene:129685 semapv:UnspecifiedMatching @@ -27216,30 +27220,30 @@ OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching OMIM:609517 TIAF1 skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:THAP7 semapv:UnspecifiedMatching OMIM:609518 THAP7 skos:exactMatch ncbigene:80764 semapv:UnspecifiedMatching -OMIM:609519 TFPT skos:exactMatch hgnc.symbol:TFPT semapv:UnspecifiedMatching OMIM:609519 TFPT skos:exactMatch ncbigene:29844 semapv:UnspecifiedMatching -OMIM:609520 THAP1 skos:exactMatch ncbigene:55145 semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch hgnc.symbol:TFPT semapv:UnspecifiedMatching OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:THAP1 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch ncbigene:55145 semapv:UnspecifiedMatching OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:SLC30A1 semapv:UnspecifiedMatching OMIM:609521 SLC30A1 skos:exactMatch ncbigene:7779 semapv:UnspecifiedMatching OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:ELOA2 semapv:UnspecifiedMatching OMIM:609522 ELOA2 skos:exactMatch ncbigene:51224 semapv:UnspecifiedMatching OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:ALDH3A2 semapv:UnspecifiedMatching OMIM:609523 ALDH3A2 skos:exactMatch ncbigene:224 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:METTL8 semapv:UnspecifiedMatching OMIM:609525 METTL8 skos:exactMatch ncbigene:79828 semapv:UnspecifiedMatching OMIM:609525 METTL8 skos:exactMatch UMLS:C1825978 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:METTL8 semapv:UnspecifiedMatching OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:PLEKHG4 semapv:UnspecifiedMatching OMIM:609526 PLEKHG4 skos:exactMatch ncbigene:25894 semapv:UnspecifiedMatching OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:RAPGEF5 semapv:UnspecifiedMatching OMIM:609527 RAPGEF5 skos:exactMatch ncbigene:9771 semapv:UnspecifiedMatching OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:RAPGEF2 semapv:UnspecifiedMatching OMIM:609530 RAPGEF2 skos:exactMatch ncbigene:9693 semapv:UnspecifiedMatching -OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:RASGRP3 semapv:UnspecifiedMatching OMIM:609531 RASGRP3 skos:exactMatch ncbigene:25780 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:RASGRP3 semapv:UnspecifiedMatching OMIM:609532 hepatitis c virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching -OMIM:609534 ATAD5 skos:exactMatch ncbigene:79915 semapv:UnspecifiedMatching OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:ATAD5 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch ncbigene:79915 semapv:UnspecifiedMatching OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:PTPMT1 semapv:UnspecifiedMatching OMIM:609538 PTPMT1 skos:exactMatch ncbigene:114971 semapv:UnspecifiedMatching OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:ARID2 semapv:UnspecifiedMatching @@ -27250,18 +27254,18 @@ OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:ATP8A1 semapv:UnspecifiedMatching OMIM:609542 ATP8A1 skos:exactMatch ncbigene:10396 semapv:UnspecifiedMatching OMIM:609543 LINC00293 skos:exactMatch ncbigene:497634 semapv:UnspecifiedMatching OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:LINC00293 semapv:UnspecifiedMatching -OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:CCP110 semapv:UnspecifiedMatching OMIM:609544 CCP110 skos:exactMatch ncbigene:9738 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:CCP110 semapv:UnspecifiedMatching OMIM:609546 USP29 skos:exactMatch hgnc.symbol:USP29 semapv:UnspecifiedMatching OMIM:609546 USP29 skos:exactMatch ncbigene:57663 semapv:UnspecifiedMatching OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:LMAN1L semapv:UnspecifiedMatching OMIM:609548 LMAN1L skos:exactMatch ncbigene:79748 semapv:UnspecifiedMatching OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:ZNF330 semapv:UnspecifiedMatching OMIM:609550 ZNF330 skos:exactMatch ncbigene:27309 semapv:UnspecifiedMatching -OMIM:609551 LMAN2 skos:exactMatch ncbigene:10960 semapv:UnspecifiedMatching OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:LMAN2 semapv:UnspecifiedMatching -OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:LMAN2L semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch ncbigene:10960 semapv:UnspecifiedMatching OMIM:609552 LMAN2L skos:exactMatch ncbigene:81562 semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:LMAN2L semapv:UnspecifiedMatching OMIM:609553 retbindin skos:exactMatch hgnc.symbol:RTBDN semapv:UnspecifiedMatching OMIM:609553 retbindin skos:exactMatch ncbigene:83546 semapv:UnspecifiedMatching OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:ITM2C semapv:UnspecifiedMatching @@ -27269,30 +27273,30 @@ OMIM:609554 ITM2C skos:exactMatch ncbigene:81618 semapv:UnspecifiedMatching OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:CPXM1 semapv:UnspecifiedMatching OMIM:609555 CPXM1 skos:exactMatch ncbigene:56265 semapv:UnspecifiedMatching OMIM:609556 ATP13A4 skos:exactMatch ncbigene:84239 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:ATP13A4 semapv:UnspecifiedMatching OMIM:609556 ATP13A4 skos:exactMatch UMLS:C1540217 semapv:UnspecifiedMatching -OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:ATP13A4 semapv:UnspecifiedMatching OMIM:609557 PREPL skos:exactMatch ncbigene:9581 semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:CAMKMT semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch ncbigene:79823 semapv:UnspecifiedMatching OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:CPA5 semapv:UnspecifiedMatching OMIM:609561 CPA5 skos:exactMatch ncbigene:93979 semapv:UnspecifiedMatching OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:CPA6 semapv:UnspecifiedMatching OMIM:609562 CPA6 skos:exactMatch ncbigene:57094 semapv:UnspecifiedMatching -OMIM:609563 CPO skos:exactMatch ncbigene:130749 semapv:UnspecifiedMatching OMIM:609563 CPO skos:exactMatch hgnc.symbol:CPO semapv:UnspecifiedMatching -OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:PARP10 semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch ncbigene:130749 semapv:UnspecifiedMatching OMIM:609564 PARP10 skos:exactMatch ncbigene:84875 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:PARP10 semapv:UnspecifiedMatching OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:MCEMP1 semapv:UnspecifiedMatching OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch ncbigene:199675 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:PNPLA3 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch ncbigene:80339 semapv:UnspecifiedMatching OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:ARHGAP20 semapv:UnspecifiedMatching OMIM:609568 ARHGAP20 skos:exactMatch ncbigene:57569 semapv:UnspecifiedMatching -OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:ZNF699 semapv:UnspecifiedMatching -OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching OMIM:609574 HSD17B12 skos:exactMatch ncbigene:51144 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:ACADVL semapv:UnspecifiedMatching OMIM:609575 ACADVL skos:exactMatch ncbigene:37 semapv:UnspecifiedMatching OMIM:609576 ACADL skos:exactMatch hgnc.symbol:ACADL semapv:UnspecifiedMatching @@ -27311,18 +27315,18 @@ OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:CPLX4 semapv:UnspecifiedMatching OMIM:609586 CPLX4 skos:exactMatch ncbigene:339302 semapv:UnspecifiedMatching OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:RCC2 semapv:UnspecifiedMatching OMIM:609587 RCC2 skos:exactMatch ncbigene:55920 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch ncbigene:51218 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:GLRX5 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch UMLS:C1825372 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225507 semapv:UnspecifiedMatching OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:MTUS1 semapv:UnspecifiedMatching OMIM:609589 MTUS1 skos:exactMatch ncbigene:57509 semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch hgnc.symbol:QKI semapv:UnspecifiedMatching OMIM:609590 QKI skos:exactMatch UMLS:C1427319 semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch hgnc.symbol:QKI semapv:UnspecifiedMatching OMIM:609590 QKI skos:exactMatch ncbigene:9444 semapv:UnspecifiedMatching -OMIM:609591 RIT1 skos:exactMatch ncbigene:6016 semapv:UnspecifiedMatching OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:RIT1 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch ncbigene:6016 semapv:UnspecifiedMatching OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:RIT2 semapv:UnspecifiedMatching OMIM:609592 RIT2 skos:exactMatch ncbigene:6014 semapv:UnspecifiedMatching OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:CARMIL1 semapv:UnspecifiedMatching @@ -27333,16 +27337,16 @@ OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:RSPO1 semapv:UnspecifiedMatching OMIM:609595 RSPO1 skos:exactMatch ncbigene:284654 semapv:UnspecifiedMatching OMIM:609596 EIF3K skos:exactMatch ncbigene:27335 semapv:UnspecifiedMatching OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:EIF3K semapv:UnspecifiedMatching -OMIM:609597 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching OMIM:609597 parietal foramina 2 skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching +OMIM:609597 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:ZHX3 semapv:UnspecifiedMatching OMIM:609598 ZHX3 skos:exactMatch ncbigene:23051 semapv:UnspecifiedMatching OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:ANKRD1 semapv:UnspecifiedMatching OMIM:609599 ANKRD1 skos:exactMatch ncbigene:27063 semapv:UnspecifiedMatching OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:ZNF396 semapv:UnspecifiedMatching OMIM:609600 ZNF396 skos:exactMatch ncbigene:252884 semapv:UnspecifiedMatching -OMIM:609601 ZNF397 skos:exactMatch ncbigene:84307 semapv:UnspecifiedMatching OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:ZNF397 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch ncbigene:84307 semapv:UnspecifiedMatching OMIM:609602 KLF17 skos:exactMatch ncbigene:128209 semapv:UnspecifiedMatching OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:KLF17 semapv:UnspecifiedMatching OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:CRYGN semapv:UnspecifiedMatching @@ -27351,11 +27355,11 @@ OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:MAP1LC3B semapv:UnspecifiedMatc OMIM:609604 MAP1LC3B skos:exactMatch ncbigene:81631 semapv:UnspecifiedMatching OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:MAP1LC3C semapv:UnspecifiedMatching OMIM:609605 MAP1LC3C skos:exactMatch ncbigene:440738 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:ATG3 semapv:UnspecifiedMatching OMIM:609606 ATG3 skos:exactMatch ncbigene:64422 semapv:UnspecifiedMatching OMIM:609606 ATG3 skos:exactMatch UMLS:C1825493 semapv:UnspecifiedMatching -OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:NECTIN4 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:ATG3 semapv:UnspecifiedMatching OMIM:609607 NECTIN4 skos:exactMatch ncbigene:81607 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:NECTIN4 semapv:UnspecifiedMatching OMIM:609608 ATG12 skos:exactMatch UMLS:C1865043 semapv:UnspecifiedMatching OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:ATG12 semapv:UnspecifiedMatching OMIM:609608 ATG12 skos:exactMatch ncbigene:9140 semapv:UnspecifiedMatching @@ -27363,19 +27367,19 @@ OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:TUBGCP4 semapv:UnspecifiedMatchi OMIM:609610 TUBGCP4 skos:exactMatch ncbigene:27229 semapv:UnspecifiedMatching OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:ANP32E semapv:UnspecifiedMatching OMIM:609611 ANP32E skos:exactMatch ncbigene:81611 semapv:UnspecifiedMatching -OMIM:609613 PLEKHM2 skos:exactMatch ncbigene:23207 semapv:UnspecifiedMatching OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:PLEKHM2 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch ncbigene:23207 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch ncbigene:57455 semapv:UnspecifiedMatching OMIM:609614 REXO1 skos:exactMatch UMLS:C1826798 semapv:UnspecifiedMatching OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:REXO1 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch ncbigene:57455 semapv:UnspecifiedMatching OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:QTRT1 semapv:UnspecifiedMatching OMIM:609615 QTRT1 skos:exactMatch ncbigene:81890 semapv:UnspecifiedMatching OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:SLC30A2 semapv:UnspecifiedMatching OMIM:609617 SLC30A2 skos:exactMatch ncbigene:7780 semapv:UnspecifiedMatching OMIM:609618 NRON skos:exactMatch ncbigene:641373 semapv:UnspecifiedMatching OMIM:609618 NRON skos:exactMatch hgnc.symbol:NRON semapv:UnspecifiedMatching -OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:GOLGA8B semapv:UnspecifiedMatching OMIM:609619 GOLGA8B skos:exactMatch ncbigene:440270 semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:GOLGA8B semapv:UnspecifiedMatching OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:RASIP1 semapv:UnspecifiedMatching OMIM:609623 RASIP1 skos:exactMatch ncbigene:54922 semapv:UnspecifiedMatching OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:MCCD1 semapv:UnspecifiedMatching @@ -27394,31 +27398,31 @@ OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semap OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:TCF23 semapv:UnspecifiedMatching OMIM:609635 TCF23 skos:exactMatch ncbigene:150921 semapv:UnspecifiedMatching -OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:HBM semapv:UnspecifiedMatching OMIM:609639 hemoglobin mu skos:exactMatch ncbigene:3042 semapv:UnspecifiedMatching -OMIM:609641 EIF3M skos:exactMatch ncbigene:10480 semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:HBM semapv:UnspecifiedMatching OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:EIF3M semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch ncbigene:10480 semapv:UnspecifiedMatching OMIM:609642 t-cell antigen receptor, gamma subunit, alternate reading frame protein skos:exactMatch ncbigene:445347 semapv:UnspecifiedMatching OMIM:609644 FANCM skos:exactMatch hgnc.symbol:FANCM semapv:UnspecifiedMatching OMIM:609644 FANCM skos:exactMatch ncbigene:57697 semapv:UnspecifiedMatching OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:NLRP4 semapv:UnspecifiedMatching OMIM:609645 NLRP4 skos:exactMatch ncbigene:147945 semapv:UnspecifiedMatching -OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching OMIM:609648 NLRP12 skos:exactMatch ncbigene:91662 semapv:UnspecifiedMatching -OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:NLRP6 semapv:UnspecifiedMatching -OMIM:609651 GPHA2 skos:exactMatch ncbigene:170589 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:GPHA2 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch ncbigene:170589 semapv:UnspecifiedMatching OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:GPHB5 semapv:UnspecifiedMatching OMIM:609652 GPHB5 skos:exactMatch ncbigene:122876 semapv:UnspecifiedMatching OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:NDUFAF2 semapv:UnspecifiedMatching OMIM:609653 NDUFAF2 skos:exactMatch ncbigene:91942 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:NLRP5 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch ncbigene:126206 semapv:UnspecifiedMatching -OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:NLRP8 semapv:UnspecifiedMatching OMIM:609659 NLRP8 skos:exactMatch ncbigene:126205 semapv:UnspecifiedMatching -OMIM:609660 NLRP13 skos:exactMatch ncbigene:126204 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:NLRP8 semapv:UnspecifiedMatching OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:NLRP13 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch ncbigene:126204 semapv:UnspecifiedMatching OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:NLRP7 semapv:UnspecifiedMatching OMIM:609661 NLRP7 skos:exactMatch ncbigene:199713 semapv:UnspecifiedMatching OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:NLRP10 semapv:UnspecifiedMatching @@ -27427,15 +27431,15 @@ OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:NLRP9 semapv:UnspecifiedMatching OMIM:609663 NLRP9 skos:exactMatch ncbigene:338321 semapv:UnspecifiedMatching OMIM:609664 NLRP11 skos:exactMatch ncbigene:204801 semapv:UnspecifiedMatching OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:NLRP11 semapv:UnspecifiedMatching -OMIM:609665 NLRP14 skos:exactMatch ncbigene:338323 semapv:UnspecifiedMatching OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:NLRP14 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch ncbigene:338323 semapv:UnspecifiedMatching OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:TPCN1 semapv:UnspecifiedMatching OMIM:609666 TPCN1 skos:exactMatch ncbigene:53373 semapv:UnspecifiedMatching OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:TAGAP semapv:UnspecifiedMatching OMIM:609667 TAGAP skos:exactMatch ncbigene:117289 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch ncbigene:160760 semapv:UnspecifiedMatching OMIM:609668 PPTC7 skos:exactMatch UMLS:C1826668 semapv:UnspecifiedMatching OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:PPTC7 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch ncbigene:160760 semapv:UnspecifiedMatching OMIM:609669 WDR36 skos:exactMatch ncbigene:134430 semapv:UnspecifiedMatching OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:WDR36 semapv:UnspecifiedMatching OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:STEAP3 semapv:UnspecifiedMatching @@ -27444,10 +27448,10 @@ OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:EXOC6 semapv:UnspecifiedMatching OMIM:609672 EXOC6 skos:exactMatch ncbigene:54536 semapv:UnspecifiedMatching OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:PDGFD semapv:UnspecifiedMatching OMIM:609673 PDGFD skos:exactMatch ncbigene:80310 semapv:UnspecifiedMatching -OMIM:609674 ESCO1 skos:exactMatch ncbigene:114799 semapv:UnspecifiedMatching OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:ESCO1 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:SOSTDC1 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch ncbigene:114799 semapv:UnspecifiedMatching OMIM:609675 SOSTDC1 skos:exactMatch ncbigene:25928 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:SOSTDC1 semapv:UnspecifiedMatching OMIM:609675 SOSTDC1 skos:exactMatch UMLS:C1427738 semapv:UnspecifiedMatching OMIM:609676 MAVS skos:exactMatch hgnc.symbol:MAVS semapv:UnspecifiedMatching OMIM:609676 MAVS skos:exactMatch ncbigene:57506 semapv:UnspecifiedMatching @@ -27455,8 +27459,8 @@ OMIM:609677 OS9 skos:exactMatch hgnc.symbol:OS9 semapv:UnspecifiedMatching OMIM:609677 OS9 skos:exactMatch ncbigene:10956 semapv:UnspecifiedMatching OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:SLITRK1 semapv:UnspecifiedMatching OMIM:609678 SLITRK1 skos:exactMatch ncbigene:114798 semapv:UnspecifiedMatching -OMIM:609679 SLITRK3 skos:exactMatch ncbigene:22865 semapv:UnspecifiedMatching OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:SLITRK3 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch ncbigene:22865 semapv:UnspecifiedMatching OMIM:609680 SLITRK5 skos:exactMatch ncbigene:26050 semapv:UnspecifiedMatching OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:SLITRK5 semapv:UnspecifiedMatching OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:SLITRK6 semapv:UnspecifiedMatching @@ -27465,8 +27469,8 @@ OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:DCLRE1A semapv:UnspecifiedMatchi OMIM:609682 DCLRE1A skos:exactMatch ncbigene:9937 semapv:UnspecifiedMatching OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:DCLRE1B semapv:UnspecifiedMatching OMIM:609683 DCLRE1B skos:exactMatch ncbigene:64858 semapv:UnspecifiedMatching -OMIM:609684 MAL2 skos:exactMatch ncbigene:114569 semapv:UnspecifiedMatching OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:MAL2 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch ncbigene:114569 semapv:UnspecifiedMatching OMIM:609685 CDCA7L skos:exactMatch ncbigene:55536 semapv:UnspecifiedMatching OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:CDCA7L semapv:UnspecifiedMatching OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:CLYBL semapv:UnspecifiedMatching @@ -27479,21 +27483,21 @@ OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:CEP250 semapv:UnspecifiedMatching OMIM:609689 CEP250 skos:exactMatch ncbigene:11190 semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch ncbigene:10056 semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch hgnc.symbol:FARSB semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch UMLS:C1425085 semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch UMLS:C1425085 semapv:UnspecifiedMatching OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:FHOD3 semapv:UnspecifiedMatching OMIM:609691 FHOD3 skos:exactMatch ncbigene:80206 semapv:UnspecifiedMatching OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:WIPF2 semapv:UnspecifiedMatching OMIM:609692 WIPF2 skos:exactMatch ncbigene:147179 semapv:UnspecifiedMatching OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:VWA7 semapv:UnspecifiedMatching OMIM:609693 VWA7 skos:exactMatch ncbigene:80737 semapv:UnspecifiedMatching -OMIM:609694 GMIP skos:exactMatch ncbigene:51291 semapv:UnspecifiedMatching OMIM:609694 GMIP skos:exactMatch hgnc.symbol:GMIP semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch ncbigene:51291 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch ncbigene:3242 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch hgnc.symbol:HPD semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C1415696 semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch hgnc.symbol:HPD semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch ncbigene:3242 semapv:UnspecifiedMatching OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:ARID4B semapv:UnspecifiedMatching OMIM:609696 ARID4B skos:exactMatch ncbigene:51742 semapv:UnspecifiedMatching OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:SAP130 semapv:UnspecifiedMatching @@ -27506,11 +27510,11 @@ OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:RABGEF1 semapv:UnspecifiedMatchi OMIM:609700 RABGEF1 skos:exactMatch ncbigene:27342 semapv:UnspecifiedMatching OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:NAGLU semapv:UnspecifiedMatching OMIM:609701 NAGLU skos:exactMatch ncbigene:4669 semapv:UnspecifiedMatching -OMIM:609702 PSMG2 skos:exactMatch ncbigene:56984 semapv:UnspecifiedMatching OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:PSMG2 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch ncbigene:56984 semapv:UnspecifiedMatching OMIM:609703 MIR15A skos:exactMatch ncbigene:406948 semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch UMLS:C1537709 semapv:UnspecifiedMatching OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:MIR15A semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch UMLS:C1537709 semapv:UnspecifiedMatching OMIM:609704 MIR16-1 skos:exactMatch UMLS:C1537711 semapv:UnspecifiedMatching OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:MIR16-1 semapv:UnspecifiedMatching OMIM:609704 MIR16-1 skos:exactMatch ncbigene:406950 semapv:UnspecifiedMatching @@ -27538,8 +27542,8 @@ OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:TREML3P semapv:UnspecifiedMatchin OMIM:609716 TREML3 skos:exactMatch ncbigene:340206 semapv:UnspecifiedMatching OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:PCAT4 semapv:UnspecifiedMatching OMIM:609717 PCAT4 skos:exactMatch ncbigene:118425 semapv:UnspecifiedMatching -OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:LHFPL2 semapv:UnspecifiedMatching OMIM:609718 LHFPL2 skos:exactMatch ncbigene:10184 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:LHFPL2 semapv:UnspecifiedMatching OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:LHFPL3 semapv:UnspecifiedMatching OMIM:609719 LHFPL3 skos:exactMatch ncbigene:375612 semapv:UnspecifiedMatching OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:CRB2 semapv:UnspecifiedMatching @@ -27550,28 +27554,28 @@ OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:PDLIM2 semapv:UnspecifiedMatching OMIM:609722 PDLIM2 skos:exactMatch ncbigene:64236 semapv:UnspecifiedMatching OMIM:609723 YPEL2 skos:exactMatch ncbigene:388403 semapv:UnspecifiedMatching OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:YPEL2 semapv:UnspecifiedMatching -OMIM:609724 YPEL3 skos:exactMatch ncbigene:83719 semapv:UnspecifiedMatching OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:YPEL3 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch ncbigene:83719 semapv:UnspecifiedMatching OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:YPEL4 semapv:UnspecifiedMatching OMIM:609725 YPEL4 skos:exactMatch ncbigene:219539 semapv:UnspecifiedMatching OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:YPEL5 semapv:UnspecifiedMatching OMIM:609726 YPEL5 skos:exactMatch ncbigene:51646 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching -OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching OMIM:609728 MARS2 skos:exactMatch ncbigene:92935 semapv:UnspecifiedMatching -OMIM:609729 PDZRN3 skos:exactMatch ncbigene:23024 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:PDZRN3 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch ncbigene:23024 semapv:UnspecifiedMatching OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:PDZRN4 semapv:UnspecifiedMatching OMIM:609730 PDZRN4 skos:exactMatch ncbigene:29951 semapv:UnspecifiedMatching OMIM:609731 CST11 skos:exactMatch hgnc.symbol:CST11 semapv:UnspecifiedMatching OMIM:609731 CST11 skos:exactMatch ncbigene:140880 semapv:UnspecifiedMatching OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:LNX1 semapv:UnspecifiedMatching OMIM:609732 LNX1 skos:exactMatch ncbigene:84708 semapv:UnspecifiedMatching -OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:LNX2 semapv:UnspecifiedMatching OMIM:609733 LNX2 skos:exactMatch ncbigene:222484 semapv:UnspecifiedMatching -OMIM:609735 RFFL skos:exactMatch ncbigene:117584 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:LNX2 semapv:UnspecifiedMatching OMIM:609735 RFFL skos:exactMatch hgnc.symbol:RFFL semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch ncbigene:117584 semapv:UnspecifiedMatching OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:CCDC88A semapv:UnspecifiedMatching OMIM:609736 CCDC88A skos:exactMatch ncbigene:55704 semapv:UnspecifiedMatching OMIM:609737 CRB3 skos:exactMatch UMLS:C1426800 semapv:UnspecifiedMatching @@ -27579,10 +27583,10 @@ OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:CRB3 semapv:UnspecifiedMatching OMIM:609737 CRB3 skos:exactMatch ncbigene:92359 semapv:UnspecifiedMatching OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:IGSF9 semapv:UnspecifiedMatching OMIM:609738 IGSF9 skos:exactMatch ncbigene:57549 semapv:UnspecifiedMatching -OMIM:609739 ILDR1 skos:exactMatch ncbigene:286676 semapv:UnspecifiedMatching OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:ILDR1 semapv:UnspecifiedMatching -OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:PHF19 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch ncbigene:286676 semapv:UnspecifiedMatching OMIM:609740 PHF19 skos:exactMatch ncbigene:26147 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:PHF19 semapv:UnspecifiedMatching OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:IL4I1 semapv:UnspecifiedMatching OMIM:609742 IL4I1 skos:exactMatch ncbigene:259307 semapv:UnspecifiedMatching OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:CADM3 semapv:UnspecifiedMatching @@ -27597,11 +27601,11 @@ OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:UBL7 semapv:UnspecifiedMatching OMIM:609748 UBL7 skos:exactMatch ncbigene:84993 semapv:UnspecifiedMatching OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:UXS1 semapv:UnspecifiedMatching OMIM:609749 UXS1 skos:exactMatch ncbigene:80146 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch ncbigene:51 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1412128 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:ACOX1 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch ncbigene:51 semapv:UnspecifiedMatching OMIM:609752 NCOA7 skos:exactMatch ncbigene:135112 semapv:UnspecifiedMatching OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:NCOA7 semapv:UnspecifiedMatching OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:CHRFAM7A semapv:UnspecifiedMatching @@ -27620,19 +27624,19 @@ OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:BLOC1S3 semapv:UnspecifiedMatchi OMIM:609762 BLOC1S3 skos:exactMatch ncbigene:388552 semapv:UnspecifiedMatching OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:PI4K2A semapv:UnspecifiedMatching OMIM:609763 PI4K2A skos:exactMatch ncbigene:55361 semapv:UnspecifiedMatching -OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:KDM4A semapv:UnspecifiedMatching OMIM:609764 KDM4A skos:exactMatch ncbigene:9682 semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:KDM4A semapv:UnspecifiedMatching OMIM:609765 KDM4B skos:exactMatch ncbigene:23030 semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch UMLS:C1428797 semapv:UnspecifiedMatching OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:KDM4B semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch UMLS:C1428797 semapv:UnspecifiedMatching OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:KDM4D semapv:UnspecifiedMatching OMIM:609766 KDM4D skos:exactMatch ncbigene:55693 semapv:UnspecifiedMatching OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:SLC25A28 semapv:UnspecifiedMatching OMIM:609767 SLC25A28 skos:exactMatch ncbigene:81894 semapv:UnspecifiedMatching OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:BLOC1S2 semapv:UnspecifiedMatching OMIM:609768 BLOC1S2 skos:exactMatch ncbigene:282991 semapv:UnspecifiedMatching -OMIM:609769 SDR9C7 skos:exactMatch ncbigene:121214 semapv:UnspecifiedMatching OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:SDR9C7 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch ncbigene:121214 semapv:UnspecifiedMatching OMIM:609770 JAML skos:exactMatch ncbigene:120425 semapv:UnspecifiedMatching OMIM:609770 JAML skos:exactMatch hgnc.symbol:JAML semapv:UnspecifiedMatching OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:UBN1 semapv:UnspecifiedMatching @@ -27651,8 +27655,8 @@ OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:XIRP1 semapv:UnspecifiedMatching OMIM:609777 XIRP1 skos:exactMatch ncbigene:165904 semapv:UnspecifiedMatching OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:XIRP2 semapv:UnspecifiedMatching OMIM:609778 XIRP2 skos:exactMatch ncbigene:129446 semapv:UnspecifiedMatching -OMIM:609779 NEK11 skos:exactMatch ncbigene:79858 semapv:UnspecifiedMatching OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:NEK11 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch ncbigene:79858 semapv:UnspecifiedMatching OMIM:609780 CPVL skos:exactMatch ncbigene:54504 semapv:UnspecifiedMatching OMIM:609780 CPVL skos:exactMatch hgnc.symbol:CPVL semapv:UnspecifiedMatching OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:ITIH5 semapv:UnspecifiedMatching @@ -27665,28 +27669,28 @@ OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:GRHL1 semapv:UnspecifiedMatching OMIM:609786 GRHL1 skos:exactMatch ncbigene:29841 semapv:UnspecifiedMatching OMIM:609787 UBAP1 skos:exactMatch ncbigene:51271 semapv:UnspecifiedMatching OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:UBAP1 semapv:UnspecifiedMatching -OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:XRRA1 semapv:UnspecifiedMatching OMIM:609788 XRRA1 skos:exactMatch ncbigene:143570 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:XRRA1 semapv:UnspecifiedMatching OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:AQP12A semapv:UnspecifiedMatching OMIM:609789 AQP12A skos:exactMatch ncbigene:375318 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:LINGO1 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch ncbigene:84894 semapv:UnspecifiedMatching OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:LINGO3 semapv:UnspecifiedMatching OMIM:609792 LINGO3 skos:exactMatch ncbigene:645191 semapv:UnspecifiedMatching -OMIM:609793 LINGO2 skos:exactMatch ncbigene:158038 semapv:UnspecifiedMatching OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:LINGO2 semapv:UnspecifiedMatching -OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:LINGO4 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch ncbigene:158038 semapv:UnspecifiedMatching OMIM:609794 LINGO4 skos:exactMatch ncbigene:339398 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:LINGO4 semapv:UnspecifiedMatching OMIM:609795 QRFP skos:exactMatch hgnc.symbol:QRFP semapv:UnspecifiedMatching OMIM:609795 QRFP skos:exactMatch ncbigene:347148 semapv:UnspecifiedMatching OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:BICD2 semapv:UnspecifiedMatching OMIM:609797 BICD2 skos:exactMatch ncbigene:23299 semapv:UnspecifiedMatching OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:NEK9 semapv:UnspecifiedMatching OMIM:609798 NEK9 skos:exactMatch ncbigene:91754 semapv:UnspecifiedMatching -OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:NEK8 semapv:UnspecifiedMatching -OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching OMIM:609801 CD300E skos:exactMatch ncbigene:342510 semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:SLC24A5 semapv:UnspecifiedMatching OMIM:609802 SLC24A5 skos:exactMatch ncbigene:283652 semapv:UnspecifiedMatching OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:ANKAR semapv:UnspecifiedMatching @@ -27695,133 +27699,133 @@ OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:CFAP52 semapv:UnspecifiedMatching OMIM:609804 CFAP52 skos:exactMatch ncbigene:146845 semapv:UnspecifiedMatching OMIM:609805 SPATA19 skos:exactMatch ncbigene:219938 semapv:UnspecifiedMatching OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:SPATA19 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch ncbigene:3145 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch hgnc.symbol:HMBS semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch UMLS:C1415597 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch UMLS:C1867969 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch hgnc.symbol:HMBS semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch ncbigene:3145 semapv:UnspecifiedMatching OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:CD300LF semapv:UnspecifiedMatching OMIM:609807 CD300LF skos:exactMatch ncbigene:146722 semapv:UnspecifiedMatching OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:LIME1 semapv:UnspecifiedMatching OMIM:609809 LIME1 skos:exactMatch ncbigene:54923 semapv:UnspecifiedMatching -OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:PEG10 semapv:UnspecifiedMatching OMIM:609810 PEG10 skos:exactMatch ncbigene:23089 semapv:UnspecifiedMatching -OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:COX7B2 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:PEG10 semapv:UnspecifiedMatching OMIM:609811 COX7B2 skos:exactMatch ncbigene:170712 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:COX7B2 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:NBEAL1 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch ncbigene:65065 semapv:UnspecifiedMatching OMIM:609818 USP10 skos:exactMatch hgnc.symbol:USP10 semapv:UnspecifiedMatching OMIM:609818 USP10 skos:exactMatch ncbigene:9100 semapv:UnspecifiedMatching -OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:PRAC1 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch ncbigene:84072 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:HORMAD1 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching OMIM:609824 HORMAD1 skos:exactMatch UMLS:C1539674 semapv:UnspecifiedMatching -OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:COQ2 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:HORMAD1 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch ncbigene:84072 semapv:UnspecifiedMatching OMIM:609825 COQ2 skos:exactMatch ncbigene:27235 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:COQ2 semapv:UnspecifiedMatching OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:SLC34A3 semapv:UnspecifiedMatching OMIM:609826 SLC34A3 skos:exactMatch ncbigene:142680 semapv:UnspecifiedMatching OMIM:609827 PELI3 skos:exactMatch UMLS:C1826566 semapv:UnspecifiedMatching OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:PELI3 semapv:UnspecifiedMatching OMIM:609827 PELI3 skos:exactMatch ncbigene:246330 semapv:UnspecifiedMatching -OMIM:609828 FSD1 skos:exactMatch ncbigene:79187 semapv:UnspecifiedMatching OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:FSD1 semapv:UnspecifiedMatching -OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:FSD1L semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch ncbigene:79187 semapv:UnspecifiedMatching OMIM:609829 FSD1NL skos:exactMatch ncbigene:83856 semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:FSD1L semapv:UnspecifiedMatching OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:MMACHC semapv:UnspecifiedMatching OMIM:609831 MMACHC skos:exactMatch ncbigene:25974 semapv:UnspecifiedMatching OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:SLC47A1 semapv:UnspecifiedMatching OMIM:609832 SLC47A1 skos:exactMatch ncbigene:55244 semapv:UnspecifiedMatching OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:SLC47A2 semapv:UnspecifiedMatching OMIM:609833 SLC47A2 skos:exactMatch ncbigene:146802 semapv:UnspecifiedMatching -OMIM:609834 SETMAR skos:exactMatch ncbigene:6419 semapv:UnspecifiedMatching OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:SETMAR semapv:UnspecifiedMatching -OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:MYCBPAP semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch ncbigene:6419 semapv:UnspecifiedMatching OMIM:609835 MYCBPAP skos:exactMatch ncbigene:84073 semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:MYCBPAP semapv:UnspecifiedMatching OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:PCBD2 semapv:UnspecifiedMatching OMIM:609836 PCBD2 skos:exactMatch ncbigene:84105 semapv:UnspecifiedMatching OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:SNORD115-1 semapv:UnspecifiedMatching OMIM:609837 SNORD115-1 skos:exactMatch ncbigene:338433 semapv:UnspecifiedMatching -OMIM:609838 SLC24A2 skos:exactMatch ncbigene:25769 semapv:UnspecifiedMatching OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:SLC24A2 semapv:UnspecifiedMatching -OMIM:609839 SLC24A3 skos:exactMatch ncbigene:57419 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch ncbigene:25769 semapv:UnspecifiedMatching OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:SLC24A3 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch UMLS:C1420149 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch ncbigene:57419 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch UMLS:C2673866 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:SLC24A4 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch ncbigene:123041 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:SLC24A4 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch UMLS:C1420149 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:SLC8B1 semapv:UnspecifiedMatching OMIM:609841 SLC8B1 skos:exactMatch ncbigene:80024 semapv:UnspecifiedMatching -OMIM:609842 EDC3 skos:exactMatch ncbigene:80153 semapv:UnspecifiedMatching OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:EDC3 semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch ncbigene:196513 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch ncbigene:80153 semapv:UnspecifiedMatching OMIM:609843 DCP1B skos:exactMatch UMLS:C1539226 semapv:UnspecifiedMatching OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:DCP1B semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch UMLS:C1539227 semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch ncbigene:196513 semapv:UnspecifiedMatching OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:DCP2 semapv:UnspecifiedMatching OMIM:609844 DCP2 skos:exactMatch ncbigene:167227 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch UMLS:C1539227 semapv:UnspecifiedMatching OMIM:609845 SI skos:exactMatch hgnc.symbol:SI semapv:UnspecifiedMatching OMIM:609845 SI skos:exactMatch ncbigene:6476 semapv:UnspecifiedMatching OMIM:609846 REG4 skos:exactMatch hgnc.symbol:REG4 semapv:UnspecifiedMatching OMIM:609846 REG4 skos:exactMatch ncbigene:83998 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch ncbigene:147111 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:NOTUM semapv:UnspecifiedMatching OMIM:609847 NOTUM skos:exactMatch UMLS:C1835953 semapv:UnspecifiedMatching -OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:KCTD11 semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:NOTUM semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch ncbigene:147111 semapv:UnspecifiedMatching OMIM:609848 KCTD11 skos:exactMatch ncbigene:147040 semapv:UnspecifiedMatching -OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:CORO1B semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:KCTD11 semapv:UnspecifiedMatching OMIM:609849 CORO1B skos:exactMatch ncbigene:57175 semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:CORO1B semapv:UnspecifiedMatching OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:TBC1D1 semapv:UnspecifiedMatching OMIM:609850 TBC1D1 skos:exactMatch ncbigene:23216 semapv:UnspecifiedMatching OMIM:609851 IPMK skos:exactMatch hgnc.symbol:IPMK semapv:UnspecifiedMatching OMIM:609851 IPMK skos:exactMatch ncbigene:253430 semapv:UnspecifiedMatching -OMIM:609852 MIXL1 skos:exactMatch ncbigene:83881 semapv:UnspecifiedMatching OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:MIXL1 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch ncbigene:83881 semapv:UnspecifiedMatching OMIM:609853 PPCS skos:exactMatch hgnc.symbol:PPCS semapv:UnspecifiedMatching OMIM:609853 PPCS skos:exactMatch ncbigene:79717 semapv:UnspecifiedMatching -OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:PPCDC semapv:UnspecifiedMatching OMIM:609854 PPCDC skos:exactMatch ncbigene:60490 semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:PPCDC semapv:UnspecifiedMatching OMIM:609855 COASY skos:exactMatch hgnc.symbol:COASY semapv:UnspecifiedMatching OMIM:609855 COASY skos:exactMatch ncbigene:80347 semapv:UnspecifiedMatching OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:SPATA16 semapv:UnspecifiedMatching OMIM:609856 SPATA16 skos:exactMatch ncbigene:83893 semapv:UnspecifiedMatching OMIM:609857 DMWD skos:exactMatch hgnc.symbol:DMWD semapv:UnspecifiedMatching OMIM:609857 DMWD skos:exactMatch ncbigene:1762 semapv:UnspecifiedMatching -OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:ETNK1 semapv:UnspecifiedMatching OMIM:609858 ETNK1 skos:exactMatch ncbigene:55500 semapv:UnspecifiedMatching -OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:ETNK2 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:ETNK1 semapv:UnspecifiedMatching OMIM:609859 ETNK2 skos:exactMatch ncbigene:55224 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:ETNK2 semapv:UnspecifiedMatching OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:DAD1P1 semapv:UnspecifiedMatching OMIM:609860 dad1-related gene skos:exactMatch ncbigene:56286 semapv:UnspecifiedMatching OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:IKBIP semapv:UnspecifiedMatching OMIM:609861 IKBIP skos:exactMatch ncbigene:121457 semapv:UnspecifiedMatching -OMIM:609862 TMPRSS6 skos:exactMatch ncbigene:164656 semapv:UnspecifiedMatching OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:TMPRSS6 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch ncbigene:164656 semapv:UnspecifiedMatching OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:TCTN1 semapv:UnspecifiedMatching OMIM:609863 TCTN1 skos:exactMatch ncbigene:79600 semapv:UnspecifiedMatching -OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:PIP4P2 semapv:UnspecifiedMatching OMIM:609864 PIP4P2 skos:exactMatch ncbigene:55529 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:PIP4P2 semapv:UnspecifiedMatching OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:PIP4P1 semapv:UnspecifiedMatching OMIM:609865 PIP4P1 skos:exactMatch ncbigene:90809 semapv:UnspecifiedMatching OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:STARD13 semapv:UnspecifiedMatching OMIM:609866 STARD13 skos:exactMatch ncbigene:90627 semapv:UnspecifiedMatching -OMIM:609867 UBLCP1 skos:exactMatch ncbigene:134510 semapv:UnspecifiedMatching OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:UBLCP1 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch ncbigene:134510 semapv:UnspecifiedMatching OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:SPATA7 semapv:UnspecifiedMatching OMIM:609868 SPATA7 skos:exactMatch ncbigene:55812 semapv:UnspecifiedMatching -OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:SPATA12 semapv:UnspecifiedMatching OMIM:609869 SPATA12 skos:exactMatch ncbigene:353324 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:SPATA12 semapv:UnspecifiedMatching OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:ARHGAP21 semapv:UnspecifiedMatching OMIM:609870 ARHGAP21 skos:exactMatch ncbigene:57584 semapv:UnspecifiedMatching OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:TBC1D2 semapv:UnspecifiedMatching OMIM:609871 TBC1D2 skos:exactMatch ncbigene:55357 semapv:UnspecifiedMatching -OMIM:609872 WFDC12 skos:exactMatch ncbigene:128488 semapv:UnspecifiedMatching OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:WFDC12 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch ncbigene:128488 semapv:UnspecifiedMatching OMIM:609873 ITLN1 skos:exactMatch ncbigene:55600 semapv:UnspecifiedMatching OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:ITLN1 semapv:UnspecifiedMatching -OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:ITLN2 semapv:UnspecifiedMatching OMIM:609874 ITLN2 skos:exactMatch ncbigene:142683 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:ITLN2 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:ATOH7 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch ncbigene:220202 semapv:UnspecifiedMatching OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:CRYL1 semapv:UnspecifiedMatching @@ -27830,35 +27834,35 @@ OMIM:609878 MED9 skos:exactMatch hgnc.symbol:MED9 semapv:UnspecifiedMatching OMIM:609878 MED9 skos:exactMatch ncbigene:55090 semapv:UnspecifiedMatching OMIM:609879 SPATA4 skos:exactMatch ncbigene:132851 semapv:UnspecifiedMatching OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:SPATA4 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch ncbigene:11143 semapv:UnspecifiedMatching OMIM:609880 KAT7 skos:exactMatch UMLS:C1424687 semapv:UnspecifiedMatching OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:KAT7 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch ncbigene:11143 semapv:UnspecifiedMatching OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:POLR2J2 semapv:UnspecifiedMatching OMIM:609881 POLR2J2 skos:exactMatch ncbigene:246721 semapv:UnspecifiedMatching OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:MTF2 semapv:UnspecifiedMatching OMIM:609882 MTF2 skos:exactMatch ncbigene:22823 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch ncbigene:54903 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:MKS1 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C1417186 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C1823331 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:MKS1 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch ncbigene:54903 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch ncbigene:91147 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017204 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017203 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:TMEM67 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C1865794 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C1853153 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C1823331 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:ELL3 semapv:UnspecifiedMatching OMIM:609885 ELL3 skos:exactMatch ncbigene:80237 semapv:UnspecifiedMatching OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching -OMIM:609890 UBR4 skos:exactMatch ncbigene:23352 semapv:UnspecifiedMatching OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:UBR4 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch ncbigene:23352 semapv:UnspecifiedMatching OMIM:609891 RIPPLY2 skos:exactMatch ncbigene:134701 semapv:UnspecifiedMatching OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:RIPPLY2 semapv:UnspecifiedMatching OMIM:609892 RIPPLY3 skos:exactMatch UMLS:C1414167 semapv:UnspecifiedMatching @@ -27868,10 +27872,10 @@ OMIM:609894 UNC13A skos:exactMatch UMLS:C1427949 semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:UNC13A semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch ncbigene:23025 semapv:UnspecifiedMatching -OMIM:609895 CASZ1 skos:exactMatch ncbigene:54897 semapv:UnspecifiedMatching OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:CASZ1 semapv:UnspecifiedMatching -OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:EIF4E3 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch ncbigene:54897 semapv:UnspecifiedMatching OMIM:609896 EIF4E3 skos:exactMatch ncbigene:317649 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:EIF4E3 semapv:UnspecifiedMatching OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:EGFL8 semapv:UnspecifiedMatching OMIM:609897 EGFL8 skos:exactMatch ncbigene:80864 semapv:UnspecifiedMatching OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:KREMEN1 semapv:UnspecifiedMatching @@ -27880,62 +27884,62 @@ OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:KREMEN2 semapv:UnspecifiedMatchi OMIM:609899 KREMEN2 skos:exactMatch ncbigene:79412 semapv:UnspecifiedMatching OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:APOBEC3D semapv:UnspecifiedMatching OMIM:609900 APOBEC3D skos:exactMatch ncbigene:140564 semapv:UnspecifiedMatching -OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching OMIM:609901 ANKS4B skos:exactMatch ncbigene:257629 semapv:UnspecifiedMatching -OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:H2BC1 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:MYL9 semapv:UnspecifiedMatching OMIM:609905 MYL9 skos:exactMatch ncbigene:10398 semapv:UnspecifiedMatching OMIM:609906 EFS skos:exactMatch UMLS:C1424622 semapv:UnspecifiedMatching OMIM:609906 EFS skos:exactMatch hgnc.symbol:EFS semapv:UnspecifiedMatching OMIM:609906 EFS skos:exactMatch ncbigene:10278 semapv:UnspecifiedMatching -OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:SEMA3D semapv:UnspecifiedMatching OMIM:609907 SEMA3D skos:exactMatch ncbigene:223117 semapv:UnspecifiedMatching -OMIM:609908 APOBEC4 skos:exactMatch ncbigene:403314 semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:SEMA3D semapv:UnspecifiedMatching OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:APOBEC4 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch ncbigene:403314 semapv:UnspecifiedMatching OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:CFAP91 semapv:UnspecifiedMatching OMIM:609910 CFAP91 skos:exactMatch ncbigene:89876 semapv:UnspecifiedMatching OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:SLC25A47 semapv:UnspecifiedMatching OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch ncbigene:283600 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch ncbigene:84148 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:KAT8 semapv:UnspecifiedMatching OMIM:609912 KAT8 skos:exactMatch UMLS:C1425187 semapv:UnspecifiedMatching OMIM:609912 KAT8 skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:KAT8 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch ncbigene:84148 semapv:UnspecifiedMatching -OMIM:609913 retinitis pigmentosa 32 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:609913 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching +OMIM:609913 retinitis pigmentosa 32 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:AQP11 semapv:UnspecifiedMatching OMIM:609914 AQP11 skos:exactMatch ncbigene:282679 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:AZI2 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch ncbigene:64343 semapv:UnspecifiedMatching OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:ERI3 semapv:UnspecifiedMatching OMIM:609917 PRNPIP skos:exactMatch ncbigene:79033 semapv:UnspecifiedMatching -OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:CDH22 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:LRP10 semapv:UnspecifiedMatching OMIM:609921 LRP10 skos:exactMatch ncbigene:26020 semapv:UnspecifiedMatching -OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:EHBP1 semapv:UnspecifiedMatching OMIM:609922 EHBP1 skos:exactMatch ncbigene:23301 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:EHBP1 semapv:UnspecifiedMatching OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:DPEP2 semapv:UnspecifiedMatching OMIM:609925 DPEP2 skos:exactMatch ncbigene:64174 semapv:UnspecifiedMatching OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:DPEP3 semapv:UnspecifiedMatching OMIM:609926 DPEP3 skos:exactMatch ncbigene:64180 semapv:UnspecifiedMatching OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:VPS37A semapv:UnspecifiedMatching OMIM:609927 VPS37A skos:exactMatch ncbigene:137492 semapv:UnspecifiedMatching -OMIM:609928 MYH7B skos:exactMatch ncbigene:57644 semapv:UnspecifiedMatching OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:MYH7B semapv:UnspecifiedMatching -OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:MYH15 semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch ncbigene:57644 semapv:UnspecifiedMatching OMIM:609929 MYH15 skos:exactMatch ncbigene:22989 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:MYH15 semapv:UnspecifiedMatching OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:MYL6B semapv:UnspecifiedMatching OMIM:609930 MYL6B skos:exactMatch ncbigene:140465 semapv:UnspecifiedMatching OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:MYL6 semapv:UnspecifiedMatching OMIM:609931 MYL6 skos:exactMatch ncbigene:4637 semapv:UnspecifiedMatching OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:SPACA4 semapv:UnspecifiedMatching OMIM:609932 SPACA4 skos:exactMatch ncbigene:171169 semapv:UnspecifiedMatching -OMIM:609933 REG3G skos:exactMatch ncbigene:130120 semapv:UnspecifiedMatching OMIM:609933 REG3G skos:exactMatch hgnc.symbol:REG3G semapv:UnspecifiedMatching -OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:EBF2 semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch ncbigene:130120 semapv:UnspecifiedMatching OMIM:609934 EBF2 skos:exactMatch ncbigene:64641 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:EBF2 semapv:UnspecifiedMatching OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:EBF4 semapv:UnspecifiedMatching OMIM:609935 EBF4 skos:exactMatch ncbigene:57593 semapv:UnspecifiedMatching OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:SPIN1 semapv:UnspecifiedMatching @@ -27944,19 +27948,19 @@ OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:CDCA7 semapv:UnspecifiedMatching OMIM:609937 CDCA7 skos:exactMatch ncbigene:83879 semapv:UnspecifiedMatching OMIM:609938 CADM2 skos:exactMatch ncbigene:253559 semapv:UnspecifiedMatching OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:CADM2 semapv:UnspecifiedMatching -OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching OMIM:609942 noonan syndrome 3 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch hgnc.symbol:PRORP semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch ncbigene:9692 semapv:UnspecifiedMatching OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:RNF216 semapv:UnspecifiedMatching OMIM:609948 RNF216 skos:exactMatch ncbigene:54476 semapv:UnspecifiedMatching -OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:C5AR2 semapv:UnspecifiedMatching OMIM:609949 C5AR2 skos:exactMatch ncbigene:27202 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:C5AR2 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:RAVER1 semapv:UnspecifiedMatching OMIM:609950 RAVER1 skos:exactMatch ncbigene:125950 semapv:UnspecifiedMatching OMIM:609950 RAVER1 skos:exactMatch UMLS:C1826769 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:RAVER1 semapv:UnspecifiedMatching -OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching OMIM:609951 ZNF384 skos:exactMatch ncbigene:171017 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch UMLS:C1826770 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:RAVER2 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch ncbigene:55225 semapv:UnspecifiedMatching @@ -27964,11 +27968,11 @@ OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:RAB37 semapv:UnspecifiedMatching OMIM:609956 RAB37 skos:exactMatch ncbigene:326624 semapv:UnspecifiedMatching OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:PPM1J semapv:UnspecifiedMatching OMIM:609957 PPM1J skos:exactMatch ncbigene:333926 semapv:UnspecifiedMatching -OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching OMIM:609959 MYADM skos:exactMatch hgnc.symbol:MYADM semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch ncbigene:9933 semapv:UnspecifiedMatching OMIM:609960 PUM3 skos:exactMatch UMLS:C1428887 semapv:UnspecifiedMatching OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:PUM3 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch ncbigene:9933 semapv:UnspecifiedMatching OMIM:609961 HMHB1 skos:exactMatch UMLS:C1825517 semapv:UnspecifiedMatching OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:HMHB1 semapv:UnspecifiedMatching OMIM:609961 HMHB1 skos:exactMatch ncbigene:57824 semapv:UnspecifiedMatching @@ -27976,26 +27980,26 @@ OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:CLEC4E semapv:UnspecifiedMatching OMIM:609962 CLEC4E skos:exactMatch ncbigene:26253 semapv:UnspecifiedMatching OMIM:609963 CHSY3 skos:exactMatch ncbigene:337876 semapv:UnspecifiedMatching OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:CHSY3 semapv:UnspecifiedMatching -OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching OMIM:609964 CLEC4D skos:exactMatch ncbigene:338339 semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch hgnc.symbol:GGN semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch ncbigene:199720 semapv:UnspecifiedMatching OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:NIBAN3 semapv:UnspecifiedMatching OMIM:609967 b-cell novel protein 1 skos:exactMatch ncbigene:199786 semapv:UnspecifiedMatching OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:SBSN semapv:UnspecifiedMatching OMIM:609969 suprabasin skos:exactMatch ncbigene:374897 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch ncbigene:54626 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch hgnc.symbol:HES2 semapv:UnspecifiedMatching OMIM:609970 HES2 skos:exactMatch UMLS:C1539666 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch hgnc.symbol:HES2 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch ncbigene:54626 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch ncbigene:390992 semapv:UnspecifiedMatching OMIM:609971 HES3 skos:exactMatch UMLS:C1825461 semapv:UnspecifiedMatching OMIM:609971 HES3 skos:exactMatch hgnc.symbol:HES3 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch ncbigene:390992 semapv:UnspecifiedMatching OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:ACOT2 semapv:UnspecifiedMatching OMIM:609972 ACOT2 skos:exactMatch ncbigene:10965 semapv:UnspecifiedMatching OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:HCN3 semapv:UnspecifiedMatching OMIM:609973 HCN3 skos:exactMatch ncbigene:57657 semapv:UnspecifiedMatching -OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:CDH9 semapv:UnspecifiedMatching OMIM:609974 CDH9 skos:exactMatch ncbigene:1007 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:CDH9 semapv:UnspecifiedMatching OMIM:609976 HIF3A skos:exactMatch ncbigene:64344 semapv:UnspecifiedMatching OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:HIF3A semapv:UnspecifiedMatching OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:CDCA8 semapv:UnspecifiedMatching @@ -28015,19 +28019,19 @@ OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:ZWILCH semapv:UnspecifiedMatching OMIM:609984 ZWILCH skos:exactMatch ncbigene:55055 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:CARD6 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch ncbigene:84674 semapv:UnspecifiedMatching -OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:STRA8 semapv:UnspecifiedMatching OMIM:609987 STRA8 skos:exactMatch ncbigene:346673 semapv:UnspecifiedMatching -OMIM:609988 PPA2 skos:exactMatch ncbigene:27068 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:STRA8 semapv:UnspecifiedMatching OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:PPA2 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch ncbigene:27068 semapv:UnspecifiedMatching OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:FNDC1 semapv:UnspecifiedMatching OMIM:609991 FNDC1 skos:exactMatch ncbigene:84624 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch UMLS:C1425038 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch hgnc.symbol:POP5 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch ncbigene:51367 semapv:UnspecifiedMatching -OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching OMIM:609996 COL28A1 skos:exactMatch ncbigene:340267 semapv:UnspecifiedMatching -OMIM:609997 HINT2 skos:exactMatch ncbigene:84681 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:HINT2 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch ncbigene:84681 semapv:UnspecifiedMatching OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:HINT3 semapv:UnspecifiedMatching OMIM:609998 HINT3 skos:exactMatch ncbigene:135114 semapv:UnspecifiedMatching OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:SYNDIG1L semapv:UnspecifiedMatching @@ -28048,18 +28052,18 @@ OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:LMBR1L semapv:UnspecifiedMatching OMIM:610007 LMBR1L skos:exactMatch ncbigene:55716 semapv:UnspecifiedMatching OMIM:610008 ARSG skos:exactMatch ncbigene:22901 semapv:UnspecifiedMatching OMIM:610008 ARSG skos:exactMatch hgnc.symbol:ARSG semapv:UnspecifiedMatching -OMIM:610009 ARSI skos:exactMatch ncbigene:340075 semapv:UnspecifiedMatching OMIM:610009 ARSI skos:exactMatch hgnc.symbol:ARSI semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch ncbigene:340075 semapv:UnspecifiedMatching OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:ARSJ semapv:UnspecifiedMatching OMIM:610010 ARSJ skos:exactMatch ncbigene:79642 semapv:UnspecifiedMatching OMIM:610011 ARSK skos:exactMatch hgnc.symbol:ARSK semapv:UnspecifiedMatching OMIM:610011 ARSK skos:exactMatch ncbigene:153642 semapv:UnspecifiedMatching OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:SULF1 semapv:UnspecifiedMatching OMIM:610012 SULF1 skos:exactMatch ncbigene:23213 semapv:UnspecifiedMatching -OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:SULF2 semapv:UnspecifiedMatching OMIM:610013 SULF2 skos:exactMatch ncbigene:55959 semapv:UnspecifiedMatching -OMIM:610014 TM2D3 skos:exactMatch ncbigene:80213 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:SULF2 semapv:UnspecifiedMatching OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:TM2D3 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch ncbigene:80213 semapv:UnspecifiedMatching OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:MIR132 semapv:UnspecifiedMatching OMIM:610016 MIR132 skos:exactMatch ncbigene:406921 semapv:UnspecifiedMatching OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching @@ -28068,8 +28072,8 @@ OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:ARHGEF40 semapv:UnspecifiedMatc OMIM:610018 ARHGEF40 skos:exactMatch ncbigene:55701 semapv:UnspecifiedMatching OMIM:610020 TBC1D10A skos:exactMatch ncbigene:83874 semapv:UnspecifiedMatching OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:TBC1D10A semapv:UnspecifiedMatching -OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching +OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:MYO5C semapv:UnspecifiedMatching OMIM:610022 MYO5C skos:exactMatch ncbigene:55930 semapv:UnspecifiedMatching OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:COL24A1 semapv:UnspecifiedMatching @@ -28089,8 +28093,8 @@ OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:PEF1 semapv:UnspecifiedMatching OMIM:610033 PEF1 skos:exactMatch ncbigene:553115 semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch ncbigene:65082 semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:VPS33A semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch UMLS:C1425364 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:VPS45 semapv:UnspecifiedMatching OMIM:610035 VPS45 skos:exactMatch ncbigene:11311 semapv:UnspecifiedMatching OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:CLDN19 semapv:UnspecifiedMatching @@ -28099,18 +28103,18 @@ OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:VPS37B semapv:UnspecifiedMatching OMIM:610037 VPS37B skos:exactMatch ncbigene:79720 semapv:UnspecifiedMatching OMIM:610038 VPS37C skos:exactMatch ncbigene:55048 semapv:UnspecifiedMatching OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:VPS37C semapv:UnspecifiedMatching -OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:VPS37D semapv:UnspecifiedMatching OMIM:610039 VPS37D skos:exactMatch ncbigene:155382 semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:VPS37D semapv:UnspecifiedMatching OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:MYO3B semapv:UnspecifiedMatching OMIM:610040 MYO3B skos:exactMatch ncbigene:140469 semapv:UnspecifiedMatching OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:NDFIP2 semapv:UnspecifiedMatching OMIM:610041 NDFIP2 skos:exactMatch ncbigene:54602 semapv:UnspecifiedMatching OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:COL23A1 semapv:UnspecifiedMatching OMIM:610043 COL23A1 skos:exactMatch ncbigene:91522 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch ncbigene:343450 semapv:UnspecifiedMatching OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:KCNT2 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch ncbigene:343450 semapv:UnspecifiedMatching OMIM:610044 KCNT2 skos:exactMatch UMLS:C1425837 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C1412339 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:ALDH5A1 semapv:UnspecifiedMatching @@ -28119,8 +28123,8 @@ OMIM:610046 LVRN skos:exactMatch hgnc.symbol:LVRN semapv:UnspecifiedMatching OMIM:610046 LVRN skos:exactMatch ncbigene:206338 semapv:UnspecifiedMatching OMIM:610047 CNPY4 skos:exactMatch ncbigene:245812 semapv:UnspecifiedMatching OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:CNPY4 semapv:UnspecifiedMatching -OMIM:610049 SARNP skos:exactMatch hgnc.symbol:SARNP semapv:UnspecifiedMatching OMIM:610049 SARNP skos:exactMatch ncbigene:84324 semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch hgnc.symbol:SARNP semapv:UnspecifiedMatching OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:TMPRSS13 semapv:UnspecifiedMatching OMIM:610050 TMPRSS13 skos:exactMatch ncbigene:84000 semapv:UnspecifiedMatching OMIM:610051 CHMP4A skos:exactMatch UMLS:C1538457 semapv:UnspecifiedMatching @@ -28158,8 +28162,8 @@ OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:MAP9 semapv:Uns OMIM:610070 aster-associated protein skos:exactMatch ncbigene:79884 semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch hgnc.symbol:ERMN semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch ncbigene:57471 semapv:UnspecifiedMatching -OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:ORMDL1 semapv:UnspecifiedMatching OMIM:610073 ORMDL1 skos:exactMatch ncbigene:94101 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:ORMDL1 semapv:UnspecifiedMatching OMIM:610074 ORMDL2 skos:exactMatch ncbigene:29095 semapv:UnspecifiedMatching OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:ORMDL2 semapv:UnspecifiedMatching OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:ORMDL3 semapv:UnspecifiedMatching @@ -28172,28 +28176,28 @@ OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:MORC3 semapv:UnspecifiedMatching OMIM:610078 MORC3 skos:exactMatch ncbigene:23515 semapv:UnspecifiedMatching OMIM:610079 SIAE skos:exactMatch ncbigene:54414 semapv:UnspecifiedMatching OMIM:610079 SIAE skos:exactMatch hgnc.symbol:SIAE semapv:UnspecifiedMatching -OMIM:610080 TM2D1 skos:exactMatch ncbigene:83941 semapv:UnspecifiedMatching OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:TM2D1 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch ncbigene:83941 semapv:UnspecifiedMatching OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:TM2D2 semapv:UnspecifiedMatching OMIM:610081 TM2D2 skos:exactMatch ncbigene:83877 semapv:UnspecifiedMatching OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:MYLIP semapv:UnspecifiedMatching OMIM:610082 MYLIP skos:exactMatch ncbigene:29116 semapv:UnspecifiedMatching OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:TENM3 semapv:UnspecifiedMatching OMIM:610083 TENM3 skos:exactMatch ncbigene:55714 semapv:UnspecifiedMatching -OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:TENM4 semapv:UnspecifiedMatching OMIM:610084 TENM4 skos:exactMatch ncbigene:26011 semapv:UnspecifiedMatching -OMIM:610085 FAM167A skos:exactMatch ncbigene:83648 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:TENM4 semapv:UnspecifiedMatching OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:FAM167A semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch ncbigene:83648 semapv:UnspecifiedMatching OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:PRMT8 semapv:UnspecifiedMatching OMIM:610086 PRMT8 skos:exactMatch ncbigene:56341 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch ncbigene:54496 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch UMLS:C1826702 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:PRMT7 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch ncbigene:54496 semapv:UnspecifiedMatching OMIM:610088 OLFML3 skos:exactMatch ncbigene:56944 semapv:UnspecifiedMatching OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:OLFML3 semapv:UnspecifiedMatching -OMIM:610089 RINT1 skos:exactMatch ncbigene:60561 semapv:UnspecifiedMatching OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:RINT1 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch ncbigene:60561 semapv:UnspecifiedMatching OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:WSB1 semapv:UnspecifiedMatching OMIM:610091 WSB1 skos:exactMatch ncbigene:26118 semapv:UnspecifiedMatching OMIM:610094 DEF6 skos:exactMatch UMLS:C1413972 semapv:UnspecifiedMatching @@ -28213,30 +28217,30 @@ OMIM:610101 CUTC skos:exactMatch hgnc.symbol:CUTC semapv:UnspecifiedMatching OMIM:610101 CUTC skos:exactMatch ncbigene:51076 semapv:UnspecifiedMatching OMIM:610102 complement component 7 deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching OMIM:610102 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching -OMIM:610103 S100Z skos:exactMatch ncbigene:170591 semapv:UnspecifiedMatching OMIM:610103 S100Z skos:exactMatch hgnc.symbol:S100Z semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch ncbigene:170591 semapv:UnspecifiedMatching OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:MIR125B1 semapv:UnspecifiedMatching OMIM:610104 MIR125B1 skos:exactMatch ncbigene:406911 semapv:UnspecifiedMatching OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:MIR125B2 semapv:UnspecifiedMatching OMIM:610105 MIR125B2 skos:exactMatch ncbigene:406912 semapv:UnspecifiedMatching OMIM:610106 DBNL skos:exactMatch hgnc.symbol:DBNL semapv:UnspecifiedMatching OMIM:610106 DBNL skos:exactMatch ncbigene:28988 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch UMLS:C1425254 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch ncbigene:55644 semapv:UnspecifiedMatching OMIM:610107 OSGEP skos:exactMatch UMLS:C4540266 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch UMLS:C1425254 semapv:UnspecifiedMatching OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:OSGEP semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch ncbigene:55644 semapv:UnspecifiedMatching -OMIM:610108 ANO1 skos:exactMatch ncbigene:55107 semapv:UnspecifiedMatching OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:ANO1 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch ncbigene:55107 semapv:UnspecifiedMatching OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:ANO2 semapv:UnspecifiedMatching OMIM:610109 ANO2 skos:exactMatch ncbigene:57101 semapv:UnspecifiedMatching OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:ANO3 semapv:UnspecifiedMatching OMIM:610110 ANO3 skos:exactMatch ncbigene:63982 semapv:UnspecifiedMatching -OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:ANO4 semapv:UnspecifiedMatching OMIM:610111 ANO4 skos:exactMatch ncbigene:121601 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:ANO4 semapv:UnspecifiedMatching OMIM:610112 CMIP skos:exactMatch hgnc.symbol:CMIP semapv:UnspecifiedMatching OMIM:610112 CMIP skos:exactMatch ncbigene:80790 semapv:UnspecifiedMatching -OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:ADAMTSL4 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:NDC1 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch ncbigene:55706 semapv:UnspecifiedMatching OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:P2RY14 semapv:UnspecifiedMatching @@ -28253,8 +28257,8 @@ OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:HTR3C semapv:UnspecifiedMatching OMIM:610121 HTR3C skos:exactMatch ncbigene:170572 semapv:UnspecifiedMatching OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:HTR3D semapv:UnspecifiedMatching OMIM:610122 HTR3D skos:exactMatch ncbigene:200909 semapv:UnspecifiedMatching -OMIM:610123 HTR3E skos:exactMatch ncbigene:285242 semapv:UnspecifiedMatching OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:HTR3E semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch ncbigene:285242 semapv:UnspecifiedMatching OMIM:610124 CHST13 skos:exactMatch ncbigene:166012 semapv:UnspecifiedMatching OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:CHST13 semapv:UnspecifiedMatching OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:CHST11 semapv:UnspecifiedMatching @@ -28287,8 +28291,8 @@ OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:ECE2 semapv:UnspecifiedMatching OMIM:610145 ECE2 skos:exactMatch ncbigene:9718 semapv:UnspecifiedMatching OMIM:610146 IGF2AS skos:exactMatch ncbigene:51214 semapv:UnspecifiedMatching OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:IGF2-AS semapv:UnspecifiedMatching -OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:GPBAR1 semapv:UnspecifiedMatching OMIM:610147 GPBAR1 skos:exactMatch ncbigene:151306 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:GPBAR1 semapv:UnspecifiedMatching OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:BBS10 semapv:UnspecifiedMatching OMIM:610148 BBS10 skos:exactMatch ncbigene:79738 semapv:UnspecifiedMatching OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:CCT5 semapv:UnspecifiedMatching @@ -28298,8 +28302,8 @@ OMIM:610151 METAP1 skos:exactMatch ncbigene:23173 semapv:UnspecifiedMatching OMIM:610152 CENPM skos:exactMatch hgnc.symbol:CENPM semapv:UnspecifiedMatching OMIM:610152 CENPM skos:exactMatch ncbigene:79019 semapv:UnspecifiedMatching OMIM:610155 iia 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching -OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching OMIM:610159 ZNF366 skos:exactMatch ncbigene:167465 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:ZNF367 semapv:UnspecifiedMatching OMIM:610160 ZNF367 skos:exactMatch ncbigene:195828 semapv:UnspecifiedMatching OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:TFAP2D semapv:UnspecifiedMatching @@ -28320,8 +28324,8 @@ OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:CALML6 semapv:UnspecifiedMatching OMIM:610171 CALML6 skos:exactMatch ncbigene:163688 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch ncbigene:79925 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:SPEF2 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch UMLS:C1857794 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch UMLS:C1857794 semapv:UnspecifiedMatching OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:MIR10A semapv:UnspecifiedMatching OMIM:610173 MIR10A skos:exactMatch ncbigene:406902 semapv:UnspecifiedMatching OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:UBTD2 semapv:UnspecifiedMatching @@ -28336,8 +28340,8 @@ OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:KIAA0586 semapv:UnspecifiedMatc OMIM:610178 KIAA0586 skos:exactMatch ncbigene:9786 semapv:UnspecifiedMatching OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:PLB1 semapv:UnspecifiedMatching OMIM:610179 PLB1 skos:exactMatch ncbigene:151056 semapv:UnspecifiedMatching -OMIM:610180 OSTF1 skos:exactMatch ncbigene:26578 semapv:UnspecifiedMatching OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:OSTF1 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch ncbigene:26578 semapv:UnspecifiedMatching OMIM:610182 PALMD skos:exactMatch ncbigene:54873 semapv:UnspecifiedMatching OMIM:610182 PALMD skos:exactMatch hgnc.symbol:PALMD semapv:UnspecifiedMatching OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:ZFAND6 semapv:UnspecifiedMatching @@ -28348,37 +28352,37 @@ OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:USP17L2 semapv:UnspecifiedMatchi OMIM:610186 USP17L2 skos:exactMatch ncbigene:377630 semapv:UnspecifiedMatching OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:CHST8 semapv:UnspecifiedMatching OMIM:610190 CHST8 skos:exactMatch ncbigene:64377 semapv:UnspecifiedMatching -OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:CHST9 semapv:UnspecifiedMatching OMIM:610191 CHST9 skos:exactMatch ncbigene:83539 semapv:UnspecifiedMatching -OMIM:610192 GLIS3 skos:exactMatch ncbigene:169792 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:CHST9 semapv:UnspecifiedMatching OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:GLIS3 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch ncbigene:169792 semapv:UnspecifiedMatching OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:B3GALNT2 semapv:UnspecifiedMatching OMIM:610194 B3GALNT2 skos:exactMatch ncbigene:148789 semapv:UnspecifiedMatching OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:PTOV1 semapv:UnspecifiedMatching OMIM:610195 PTOV1 skos:exactMatch ncbigene:53635 semapv:UnspecifiedMatching -OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:ELMOD2 semapv:UnspecifiedMatching OMIM:610196 ELMOD2 skos:exactMatch ncbigene:255520 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:ELMOD2 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch ncbigene:81857 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch hgnc.symbol:MED25 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C4225323 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C1537681 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:MRPL13 semapv:UnspecifiedMatching OMIM:610200 MRPL13 skos:exactMatch ncbigene:28998 semapv:UnspecifiedMatching -OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:CEP162 semapv:UnspecifiedMatching OMIM:610201 CEP162 skos:exactMatch ncbigene:22832 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:CEP162 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C3888097 semapv:UnspecifiedMatching OMIM:610202 cataract 21, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C1857768 semapv:UnspecifiedMatching -OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C3888097 semapv:UnspecifiedMatching OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:SLC4A11 semapv:UnspecifiedMatching OMIM:610206 SLC4A11 skos:exactMatch ncbigene:83959 semapv:UnspecifiedMatching OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:SLC4A9 semapv:UnspecifiedMatching OMIM:610207 SLC4A9 skos:exactMatch ncbigene:83697 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:MAF1 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch ncbigene:84232 semapv:UnspecifiedMatching -OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:SLIRP semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch ncbigene:80267 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:EDEM3 semapv:UnspecifiedMatching OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:ARHGEF25 semapv:UnspecifiedMatching @@ -28397,8 +28401,8 @@ OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:RIN2 semapv:UnspecifiedMatching OMIM:610222 RIN2 skos:exactMatch ncbigene:54453 semapv:UnspecifiedMatching OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:RIN3 semapv:UnspecifiedMatching OMIM:610223 RIN3 skos:exactMatch ncbigene:79890 semapv:UnspecifiedMatching -OMIM:610224 SOHLH1 skos:exactMatch ncbigene:402381 semapv:UnspecifiedMatching OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:SOHLH1 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch ncbigene:402381 semapv:UnspecifiedMatching OMIM:610225 RPS19BP1 skos:exactMatch ncbigene:91582 semapv:UnspecifiedMatching OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:RPS19BP1 semapv:UnspecifiedMatching OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:ZNF750 semapv:UnspecifiedMatching @@ -28411,18 +28415,18 @@ OMIM:610230 TRMU skos:exactMatch hgnc.symbol:TRMU semapv:UnspecifiedMatching OMIM:610230 TRMU skos:exactMatch ncbigene:55687 semapv:UnspecifiedMatching OMIM:610231 PCGF1 skos:exactMatch ncbigene:84759 semapv:UnspecifiedMatching OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:PCGF1 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching OMIM:610232 ATP13A3 skos:exactMatch UMLS:C1540216 semapv:UnspecifiedMatching OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:ATP13A3 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch UMLS:C1853254 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:MTFP1 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch ncbigene:51537 semapv:UnspecifiedMatching OMIM:610236 LNPK skos:exactMatch hgnc.symbol:LNPK semapv:UnspecifiedMatching OMIM:610236 LNPK skos:exactMatch ncbigene:80856 semapv:UnspecifiedMatching -OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching OMIM:610237 MED30 skos:exactMatch hgnc.symbol:MED30 semapv:UnspecifiedMatching -OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching OMIM:610238 SLC5A11 skos:exactMatch ncbigene:115584 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:LHFPL4 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch ncbigene:375323 semapv:UnspecifiedMatching OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:RNF32 semapv:UnspecifiedMatching @@ -28431,18 +28435,18 @@ OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:RNF32-DT semapv:UnspecifiedMatch OMIM:610242 C7ORF13 skos:exactMatch ncbigene:100506380 semapv:UnspecifiedMatching OMIM:610243 ZFYVE27 skos:exactMatch ncbigene:118813 semapv:UnspecifiedMatching OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:ZFYVE27 semapv:UnspecifiedMatching -OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching +OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:POFUT2 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch ncbigene:23275 semapv:UnspecifiedMatching OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:MIR1-2 semapv:UnspecifiedMatching OMIM:610252 MIR1-2 skos:exactMatch ncbigene:406905 semapv:UnspecifiedMatching OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:MIR133A1 semapv:UnspecifiedMatching OMIM:610254 MIR133A1 skos:exactMatch ncbigene:406922 semapv:UnspecifiedMatching -OMIM:610255 MIR133A2 skos:exactMatch ncbigene:406923 semapv:UnspecifiedMatching OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:MIR133A2 semapv:UnspecifiedMatching -OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:SEC31A semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch ncbigene:406923 semapv:UnspecifiedMatching OMIM:610257 SEC31A skos:exactMatch ncbigene:22872 semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:SEC31A semapv:UnspecifiedMatching OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:SEC31B semapv:UnspecifiedMatching OMIM:610258 SEC31B skos:exactMatch ncbigene:25956 semapv:UnspecifiedMatching OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:LINC00163 semapv:UnspecifiedMatching @@ -28451,16 +28455,16 @@ OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:DNAJB13 semapv:UnspecifiedMatchi OMIM:610263 DNAJB13 skos:exactMatch ncbigene:374407 semapv:UnspecifiedMatching OMIM:610264 TEPP skos:exactMatch hgnc.symbol:TEPP semapv:UnspecifiedMatching OMIM:610264 TEPP skos:exactMatch ncbigene:374739 semapv:UnspecifiedMatching -OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:TAOK1 semapv:UnspecifiedMatching OMIM:610266 TAOK1 skos:exactMatch ncbigene:57551 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:TAOK1 semapv:UnspecifiedMatching OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:METAP1D semapv:UnspecifiedMatching OMIM:610267 METAP1D skos:exactMatch ncbigene:254042 semapv:UnspecifiedMatching OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:MOGAT1 semapv:UnspecifiedMatching OMIM:610268 MOGAT1 skos:exactMatch ncbigene:116255 semapv:UnspecifiedMatching -OMIM:610270 MOGAT2 skos:exactMatch ncbigene:80168 semapv:UnspecifiedMatching OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:MOGAT2 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch hgnc.symbol:PIGS semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch ncbigene:80168 semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch ncbigene:94005 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch hgnc.symbol:PIGS semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch UMLS:C1423069 semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch UMLS:C4748357 semapv:UnspecifiedMatching OMIM:610272 PIGT skos:exactMatch hgnc.symbol:PIGT semapv:UnspecifiedMatching @@ -28479,10 +28483,10 @@ OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.sym OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch ncbigene:375033 semapv:UnspecifiedMatching OMIM:610280 OSTN skos:exactMatch hgnc.symbol:OSTN semapv:UnspecifiedMatching OMIM:610280 OSTN skos:exactMatch ncbigene:344901 semapv:UnspecifiedMatching -OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:ZFP62 semapv:UnspecifiedMatching OMIM:610281 ZFP62 skos:exactMatch ncbigene:643836 semapv:UnspecifiedMatching -OMIM:610284 LIPT1 skos:exactMatch ncbigene:51601 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:ZFP62 semapv:UnspecifiedMatching OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:LIPT1 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch ncbigene:51601 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C1824957 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C1850792 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching @@ -28490,8 +28494,8 @@ OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:DOK7 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch ncbigene:285489 semapv:UnspecifiedMatching OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:LCMT1 semapv:UnspecifiedMatching OMIM:610286 LCMT1 skos:exactMatch ncbigene:51451 semapv:UnspecifiedMatching -OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:FBXL15 semapv:UnspecifiedMatching OMIM:610287 FBXL15 skos:exactMatch ncbigene:79176 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:FBXL15 semapv:UnspecifiedMatching OMIM:610288 GOLGA6A skos:exactMatch ncbigene:342096 semapv:UnspecifiedMatching OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:GOLGA6A semapv:UnspecifiedMatching OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:OXCT2 semapv:UnspecifiedMatching @@ -28503,8 +28507,8 @@ OMIM:610291 SV2C skos:exactMatch ncbigene:22987 semapv:UnspecifiedMatching OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:BANK1 semapv:UnspecifiedMatching OMIM:610292 BANK1 skos:exactMatch ncbigene:55024 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching -OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:NUDCD3 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch ncbigene:23386 semapv:UnspecifiedMatching OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:PHLDB2 semapv:UnspecifiedMatching @@ -28531,18 +28535,18 @@ OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:B3GLCT semapv:UnspecifiedMatching OMIM:610308 B3GLCT skos:exactMatch ncbigene:145173 semapv:UnspecifiedMatching OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:UBE2S semapv:UnspecifiedMatching OMIM:610309 UBE2S skos:exactMatch ncbigene:27338 semapv:UnspecifiedMatching -OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:MGAT4D semapv:UnspecifiedMatching OMIM:610310 MGAT4D skos:exactMatch ncbigene:152586 semapv:UnspecifiedMatching -OMIM:610311 MED28 skos:exactMatch hgnc.symbol:MED28 semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:MGAT4D semapv:UnspecifiedMatching OMIM:610311 MED28 skos:exactMatch ncbigene:80306 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch hgnc.symbol:MED28 semapv:UnspecifiedMatching OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:PIWIL2 semapv:UnspecifiedMatching OMIM:610312 PIWIL2 skos:exactMatch ncbigene:55124 semapv:UnspecifiedMatching OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:PIWIL3 semapv:UnspecifiedMatching OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch ncbigene:440822 semapv:UnspecifiedMatching -OMIM:610315 PIWIL4 skos:exactMatch ncbigene:143689 semapv:UnspecifiedMatching OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:PIWIL4 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch ncbigene:143689 semapv:UnspecifiedMatching OMIM:610316 PNPT1 skos:exactMatch ncbigene:87178 semapv:UnspecifiedMatching OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:PNPT1 semapv:UnspecifiedMatching OMIM:610317 COBL skos:exactMatch hgnc.symbol:COBL semapv:UnspecifiedMatching @@ -28552,20 +28556,20 @@ OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch ncbigene:22837 semapv:Un OMIM:610320 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:TRERF1 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch ncbigene:55809 semapv:UnspecifiedMatching -OMIM:610323 MTDH skos:exactMatch hgnc.symbol:MTDH semapv:UnspecifiedMatching OMIM:610323 MTDH skos:exactMatch ncbigene:92140 semapv:UnspecifiedMatching -OMIM:610324 OXSM skos:exactMatch ncbigene:54995 semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch hgnc.symbol:MTDH semapv:UnspecifiedMatching OMIM:610324 OXSM skos:exactMatch hgnc.symbol:OXSM semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch ncbigene:54995 semapv:UnspecifiedMatching OMIM:610325 NUDC skos:exactMatch hgnc.symbol:NUDC semapv:UnspecifiedMatching OMIM:610325 NUDC skos:exactMatch ncbigene:10726 semapv:UnspecifiedMatching OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:RNASEH2B semapv:UnspecifiedMatching OMIM:610326 RNASEH2B skos:exactMatch ncbigene:79621 semapv:UnspecifiedMatching -OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:RUFY1 semapv:UnspecifiedMatching OMIM:610327 RUFY1 skos:exactMatch ncbigene:80230 semapv:UnspecifiedMatching -OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:RUFY2 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:RUFY1 semapv:UnspecifiedMatching OMIM:610328 RUFY2 skos:exactMatch ncbigene:55680 semapv:UnspecifiedMatching -OMIM:610330 RNASEH2C skos:exactMatch ncbigene:84153 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:RUFY2 semapv:UnspecifiedMatching OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:RNASEH2C semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch ncbigene:84153 semapv:UnspecifiedMatching OMIM:610331 HES6 skos:exactMatch UMLS:C1425399 semapv:UnspecifiedMatching OMIM:610331 HES6 skos:exactMatch hgnc.symbol:HES6 semapv:UnspecifiedMatching OMIM:610331 HES6 skos:exactMatch ncbigene:55502 semapv:UnspecifiedMatching @@ -28577,36 +28581,36 @@ OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:C2CD4C semapv:UnspecifiedMatching OMIM:610336 C2CD4C skos:exactMatch ncbigene:126567 semapv:UnspecifiedMatching OMIM:610337 URGCP skos:exactMatch ncbigene:55665 semapv:UnspecifiedMatching OMIM:610337 URGCP skos:exactMatch hgnc.symbol:URGCP semapv:UnspecifiedMatching -OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:P3H1 semapv:UnspecifiedMatching OMIM:610339 P3H1 skos:exactMatch ncbigene:64175 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:P3H1 semapv:UnspecifiedMatching OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:EPB41L4B semapv:UnspecifiedMatching OMIM:610340 EPB41L4B skos:exactMatch ncbigene:54566 semapv:UnspecifiedMatching OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:P3H2 semapv:UnspecifiedMatching OMIM:610341 P3H2 skos:exactMatch ncbigene:55214 semapv:UnspecifiedMatching -OMIM:610342 P3H3 skos:exactMatch ncbigene:10536 semapv:UnspecifiedMatching OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:P3H3 semapv:UnspecifiedMatching -OMIM:610343 C2CD4A skos:exactMatch ncbigene:145741 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch ncbigene:10536 semapv:UnspecifiedMatching OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:C2CD4A semapv:UnspecifiedMatching -OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:C2CD4B semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch ncbigene:145741 semapv:UnspecifiedMatching OMIM:610344 C2CD4B skos:exactMatch ncbigene:388125 semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:C2CD4B semapv:UnspecifiedMatching OMIM:610345 AGK skos:exactMatch hgnc.symbol:AGK semapv:UnspecifiedMatching OMIM:610345 AGK skos:exactMatch ncbigene:55750 semapv:UnspecifiedMatching OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:CDC37L1 semapv:UnspecifiedMatching OMIM:610346 CDC37L1 skos:exactMatch ncbigene:55664 semapv:UnspecifiedMatching OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:RPRD1A semapv:UnspecifiedMatching OMIM:610347 RPRD1A skos:exactMatch ncbigene:55197 semapv:UnspecifiedMatching -OMIM:610348 SLF2 skos:exactMatch ncbigene:55719 semapv:UnspecifiedMatching OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:SLF2 semapv:UnspecifiedMatching -OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:MAMSTR semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch ncbigene:55719 semapv:UnspecifiedMatching OMIM:610349 MAMSTR skos:exactMatch ncbigene:284358 semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:MAMSTR semapv:UnspecifiedMatching OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:LINS1 semapv:UnspecifiedMatching OMIM:610350 LINS1 skos:exactMatch ncbigene:55180 semapv:UnspecifiedMatching OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:PPP4R3A semapv:UnspecifiedMatching OMIM:610351 PPP4R3A skos:exactMatch ncbigene:55671 semapv:UnspecifiedMatching OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:PPP4R3B semapv:UnspecifiedMatching OMIM:610352 PPP4R3B skos:exactMatch ncbigene:57223 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch ncbigene:57589 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:RIC1 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch ncbigene:57589 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch UMLS:C1425035 semapv:UnspecifiedMatching OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:PALB2 semapv:UnspecifiedMatching @@ -28616,37 +28620,37 @@ OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch Orphanet:1 OMIM:610358 SPCS1 skos:exactMatch UMLS:C1539816 semapv:UnspecifiedMatching OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:SPCS1 semapv:UnspecifiedMatching OMIM:610358 SPCS1 skos:exactMatch ncbigene:28972 semapv:UnspecifiedMatching -OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:MUC20 semapv:UnspecifiedMatching -OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching OMIM:610362 RAX2 skos:exactMatch ncbigene:84839 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:PADI6 semapv:UnspecifiedMatching OMIM:610363 PADI6 skos:exactMatch ncbigene:353238 semapv:UnspecifiedMatching OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:TMBIM1 semapv:UnspecifiedMatching OMIM:610364 TMBIM1 skos:exactMatch ncbigene:64114 semapv:UnspecifiedMatching -OMIM:610365 C1QTNF1 skos:exactMatch ncbigene:114897 semapv:UnspecifiedMatching OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:C1QTNF1 semapv:UnspecifiedMatching -OMIM:610366 AP3M1 skos:exactMatch ncbigene:26985 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch ncbigene:114897 semapv:UnspecifiedMatching OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:AP3M1 semapv:UnspecifiedMatching -OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:SLC2A11 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch ncbigene:26985 semapv:UnspecifiedMatching OMIM:610367 SLC2A11 skos:exactMatch ncbigene:66035 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:SLC2A11 semapv:UnspecifiedMatching OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:LRCH1 semapv:UnspecifiedMatching OMIM:610368 LRCH1 skos:exactMatch ncbigene:23143 semapv:UnspecifiedMatching OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:HSPA14 semapv:UnspecifiedMatching OMIM:610369 HSPA14 skos:exactMatch ncbigene:51182 semapv:UnspecifiedMatching OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:SLC2A7 semapv:UnspecifiedMatching OMIM:610371 SLC2A7 skos:exactMatch ncbigene:155184 semapv:UnspecifiedMatching -OMIM:610372 SLC2A12 skos:exactMatch ncbigene:154091 semapv:UnspecifiedMatching OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:SLC2A12 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch UMLS:C1425165 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:DDX50 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch ncbigene:154091 semapv:UnspecifiedMatching OMIM:610373 DDX50 skos:exactMatch ncbigene:79009 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:DDX50 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch UMLS:C1425165 semapv:UnspecifiedMatching OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:CAPRIN2 semapv:UnspecifiedMatching OMIM:610375 CAPRIN2 skos:exactMatch ncbigene:65981 semapv:UnspecifiedMatching -OMIM:610376 ACKR3 skos:exactMatch ncbigene:57007 semapv:UnspecifiedMatching OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:ACKR3 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch ncbigene:57007 semapv:UnspecifiedMatching OMIM:610377 mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching OMIM:610377 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:GLIS1 semapv:UnspecifiedMatching @@ -28659,18 +28663,18 @@ OMIM:610385 LR8 skos:exactMatch hgnc.symbol:TMEM176B semapv:UnspecifiedMatching OMIM:610385 LR8 skos:exactMatch ncbigene:28959 semapv:UnspecifiedMatching OMIM:610386 BTBD7 skos:exactMatch ncbigene:55727 semapv:UnspecifiedMatching OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:BTBD7 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch UMLS:C1835863 semapv:UnspecifiedMatching OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:SLC25A37 semapv:UnspecifiedMatching OMIM:610387 SLC25A37 skos:exactMatch ncbigene:51312 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch UMLS:C1835863 semapv:UnspecifiedMatching OMIM:610388 REM1 skos:exactMatch UMLS:C1538825 semapv:UnspecifiedMatching OMIM:610388 REM1 skos:exactMatch hgnc.symbol:REM1 semapv:UnspecifiedMatching OMIM:610388 REM1 skos:exactMatch ncbigene:28954 semapv:UnspecifiedMatching OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:LAMTOR2 semapv:UnspecifiedMatching OMIM:610389 LAMTOR2 skos:exactMatch ncbigene:28956 semapv:UnspecifiedMatching -OMIM:610390 MPEG1 skos:exactMatch ncbigene:219972 semapv:UnspecifiedMatching OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:MPEG1 semapv:UnspecifiedMatching -OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:PLPPR3 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch ncbigene:219972 semapv:UnspecifiedMatching OMIM:610391 PLPPR3 skos:exactMatch ncbigene:79948 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:PLPPR3 semapv:UnspecifiedMatching OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:MYCBP2 semapv:UnspecifiedMatching OMIM:610392 MYCBP2 skos:exactMatch ncbigene:23077 semapv:UnspecifiedMatching OMIM:610393 GON4L skos:exactMatch hgnc.symbol:GON4L semapv:UnspecifiedMatching @@ -28679,419 +28683,419 @@ OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:GLIPR1L2 semapv:UnspecifiedMatc OMIM:610394 GLIPR1L2 skos:exactMatch ncbigene:144321 semapv:UnspecifiedMatching OMIM:610395 GLIPR1L1 skos:exactMatch ncbigene:256710 semapv:UnspecifiedMatching OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:GLIPR1L1 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch ncbigene:79090 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:TRAPPC6A semapv:UnspecifiedMatching OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C1427890 semapv:UnspecifiedMatching OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:TRAPPC6A semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch ncbigene:79090 semapv:UnspecifiedMatching OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:TRAPPC6B semapv:UnspecifiedMatching OMIM:610397 TRAPPC6B skos:exactMatch ncbigene:122553 semapv:UnspecifiedMatching OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:SAP30L semapv:UnspecifiedMatching OMIM:610398 SAP30L skos:exactMatch ncbigene:79685 semapv:UnspecifiedMatching -OMIM:610399 TMPRSS11E skos:exactMatch ncbigene:28983 semapv:UnspecifiedMatching OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:TMPRSS11E semapv:UnspecifiedMatching -OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:MACROD1 semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch ncbigene:28983 semapv:UnspecifiedMatching OMIM:610400 MACROD1 skos:exactMatch ncbigene:28992 semapv:UnspecifiedMatching -OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:NTN4 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:MACROD1 semapv:UnspecifiedMatching OMIM:610401 NTN4 skos:exactMatch ncbigene:59277 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:NTN4 semapv:UnspecifiedMatching OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:CAND2 semapv:UnspecifiedMatching OMIM:610403 CAND2 skos:exactMatch ncbigene:23066 semapv:UnspecifiedMatching -OMIM:610404 RMI1 skos:exactMatch ncbigene:80010 semapv:UnspecifiedMatching OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:RMI1 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch ncbigene:80010 semapv:UnspecifiedMatching OMIM:610405 CHPF skos:exactMatch hgnc.symbol:CHPF semapv:UnspecifiedMatching OMIM:610405 CHPF skos:exactMatch ncbigene:79586 semapv:UnspecifiedMatching OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:TRR-TCT2-1 semapv:UnspecifiedMatching OMIM:610406 TRR-TCT2-1 skos:exactMatch ncbigene:7230 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch UMLS:C1421118 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:TRG-GCC2-6 semapv:UnspecifiedMatching OMIM:610407 TRG-GCC2-6 skos:exactMatch ncbigene:7196 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:TRG-GCC2-6 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch UMLS:C1421118 semapv:UnspecifiedMatching OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:SLC15A3 semapv:UnspecifiedMatching OMIM:610408 SLC15A3 skos:exactMatch ncbigene:51296 semapv:UnspecifiedMatching -OMIM:610409 SLC16A8 skos:exactMatch ncbigene:23539 semapv:UnspecifiedMatching OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:SLC16A8 semapv:UnspecifiedMatching -OMIM:610410 DHRS1 skos:exactMatch ncbigene:115817 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch ncbigene:23539 semapv:UnspecifiedMatching OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:DHRS1 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch ncbigene:115817 semapv:UnspecifiedMatching OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:IPO13 semapv:UnspecifiedMatching OMIM:610411 IPO13 skos:exactMatch ncbigene:9670 semapv:UnspecifiedMatching -OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:SPTSSB semapv:UnspecifiedMatching OMIM:610412 SPTSSB skos:exactMatch ncbigene:165679 semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:SPTSSB semapv:UnspecifiedMatching OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:IGFBPL1 semapv:UnspecifiedMatching OMIM:610413 IGFBPL1 skos:exactMatch ncbigene:347252 semapv:UnspecifiedMatching OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:NBPF15 semapv:UnspecifiedMatching OMIM:610414 NBPF15 skos:exactMatch ncbigene:284565 semapv:UnspecifiedMatching -OMIM:610415 STXBP4 skos:exactMatch ncbigene:252983 semapv:UnspecifiedMatching OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:STXBP4 semapv:UnspecifiedMatching -OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:SCAND1 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch ncbigene:252983 semapv:UnspecifiedMatching OMIM:610416 SCAND1 skos:exactMatch ncbigene:51282 semapv:UnspecifiedMatching -OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:SCAND2P semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:SCAND1 semapv:UnspecifiedMatching OMIM:610417 SCAND2 skos:exactMatch ncbigene:54581 semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:SCAND2P semapv:UnspecifiedMatching OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:WDFY2 semapv:UnspecifiedMatching OMIM:610418 WDFY2 skos:exactMatch ncbigene:115825 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:KHDRBS3 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch ncbigene:10656 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch ncbigene:23241 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:PACS2 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C1538564 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching -OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:PACS2 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch ncbigene:23241 semapv:UnspecifiedMatching OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching OMIM:610428 COX18 skos:exactMatch hgnc.symbol:COX18 semapv:UnspecifiedMatching OMIM:610428 COX18 skos:exactMatch ncbigene:285521 semapv:UnspecifiedMatching OMIM:610429 COX19 skos:exactMatch hgnc.symbol:COX19 semapv:UnspecifiedMatching OMIM:610429 COX19 skos:exactMatch ncbigene:90639 semapv:UnspecifiedMatching -OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:RNF167 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:RNF125 semapv:UnspecifiedMatching OMIM:610432 RNF125 skos:exactMatch ncbigene:54941 semapv:UnspecifiedMatching -OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:LY6G5B semapv:UnspecifiedMatching OMIM:610433 LY6G5B skos:exactMatch ncbigene:58496 semapv:UnspecifiedMatching -OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:LY6G5C semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:LY6G5B semapv:UnspecifiedMatching OMIM:610434 LY6G5C skos:exactMatch ncbigene:80741 semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:LY6G5C semapv:UnspecifiedMatching OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:LY6G6C semapv:UnspecifiedMatching OMIM:610435 LY6G6C skos:exactMatch ncbigene:80740 semapv:UnspecifiedMatching -OMIM:610436 RTTN skos:exactMatch ncbigene:25914 semapv:UnspecifiedMatching OMIM:610436 RTTN skos:exactMatch hgnc.symbol:RTTN semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch ncbigene:25914 semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch UMLS:C1422282 semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:LY6G6E semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch ncbigene:79136 semapv:UnspecifiedMatching -OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching OMIM:610440 SGSM3 skos:exactMatch ncbigene:27352 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching OMIM:610443 koolen-de vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching -OMIM:610447 SPRN skos:exactMatch ncbigene:503542 semapv:UnspecifiedMatching OMIM:610447 SPRN skos:exactMatch hgnc.symbol:SPRN semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch ncbigene:503542 semapv:UnspecifiedMatching OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:MTCH1 semapv:UnspecifiedMatching OMIM:610449 MTCH1 skos:exactMatch ncbigene:23787 semapv:UnspecifiedMatching OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:LYPD1 semapv:UnspecifiedMatching OMIM:610450 LYPD1 skos:exactMatch ncbigene:116372 semapv:UnspecifiedMatching -OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:TBCEL semapv:UnspecifiedMatching OMIM:610451 LRRC35 skos:exactMatch ncbigene:219899 semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:TBCEL semapv:UnspecifiedMatching OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:HGSNAT semapv:UnspecifiedMatching OMIM:610453 HGSNAT skos:exactMatch ncbigene:138050 semapv:UnspecifiedMatching -OMIM:610454 LZTS2 skos:exactMatch ncbigene:84445 semapv:UnspecifiedMatching OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:LZTS2 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch ncbigene:84445 semapv:UnspecifiedMatching OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:SAMD9 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch ncbigene:54809 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:SAMD9 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch UMLS:C1539722 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:SMPD4 semapv:UnspecifiedMatching OMIM:610457 SMPD4 skos:exactMatch ncbigene:55627 semapv:UnspecifiedMatching OMIM:610458 LZIC skos:exactMatch hgnc.symbol:LZIC semapv:UnspecifiedMatching OMIM:610458 LZIC skos:exactMatch ncbigene:84328 semapv:UnspecifiedMatching -OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:PRR13 semapv:UnspecifiedMatching OMIM:610459 PRR13 skos:exactMatch ncbigene:54458 semapv:UnspecifiedMatching -OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:RTN4RL1 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:PRR13 semapv:UnspecifiedMatching OMIM:610461 RTN4RL1 skos:exactMatch ncbigene:146760 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:RTN4RL1 semapv:UnspecifiedMatching OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:RTN4RL2 semapv:UnspecifiedMatching OMIM:610462 RTN4RL2 skos:exactMatch ncbigene:349667 semapv:UnspecifiedMatching -OMIM:610463 NUS1 skos:exactMatch ncbigene:116150 semapv:UnspecifiedMatching OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:NUS1 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch ncbigene:116150 semapv:UnspecifiedMatching OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:GPR156 semapv:UnspecifiedMatching OMIM:610464 GPR156 skos:exactMatch ncbigene:165829 semapv:UnspecifiedMatching OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:ACSF2 semapv:UnspecifiedMatching OMIM:610465 ACSF2 skos:exactMatch ncbigene:80221 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch UMLS:C1537580 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:LIX1 semapv:UnspecifiedMatching OMIM:610466 LIX1 skos:exactMatch ncbigene:167410 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:LIX1 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch UMLS:C1537580 semapv:UnspecifiedMatching OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:HACD1 semapv:UnspecifiedMatching OMIM:610467 HACD1 skos:exactMatch ncbigene:9200 semapv:UnspecifiedMatching -OMIM:610468 IFI44 skos:exactMatch ncbigene:10561 semapv:UnspecifiedMatching OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:IFI44 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch ncbigene:10561 semapv:UnspecifiedMatching OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:AP3M2 semapv:UnspecifiedMatching OMIM:610469 AP3M2 skos:exactMatch ncbigene:10947 semapv:UnspecifiedMatching OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:TRPT1 semapv:UnspecifiedMatching OMIM:610470 TRPT1 skos:exactMatch ncbigene:83707 semapv:UnspecifiedMatching -OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching OMIM:610471 VASH2 skos:exactMatch ncbigene:79805 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching OMIM:610472 AYTL2 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching -OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:LPGAT1 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:TMPRSS9 semapv:UnspecifiedMatching OMIM:610477 TMPRSS9 skos:exactMatch ncbigene:360200 semapv:UnspecifiedMatching OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:SRFBP1 semapv:UnspecifiedMatching OMIM:610479 SRFBP1 skos:exactMatch ncbigene:153443 semapv:UnspecifiedMatching -OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:LEMD1 semapv:UnspecifiedMatching OMIM:610480 LEMD1 skos:exactMatch ncbigene:93273 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:LEMD1 semapv:UnspecifiedMatching OMIM:610481 SHD skos:exactMatch hgnc.symbol:SHD semapv:UnspecifiedMatching OMIM:610481 SHD skos:exactMatch ncbigene:56961 semapv:UnspecifiedMatching -OMIM:610482 SHE skos:exactMatch ncbigene:126669 semapv:UnspecifiedMatching OMIM:610482 SHE skos:exactMatch hgnc.symbol:SHE semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch ncbigene:126669 semapv:UnspecifiedMatching OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:LZTS3 semapv:UnspecifiedMatching OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch ncbigene:9762 semapv:UnspecifiedMatching OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:LINC00312 semapv:UnspecifiedMatching OMIM:610485 LINC00312 skos:exactMatch ncbigene:29931 semapv:UnspecifiedMatching -OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:LRRC4 semapv:UnspecifiedMatching OMIM:610486 LRRC4 skos:exactMatch ncbigene:64101 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:LRRC4 semapv:UnspecifiedMatching OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:KHDRBS2 semapv:UnspecifiedMatching OMIM:610487 KHDRBS2 skos:exactMatch ncbigene:202559 semapv:UnspecifiedMatching -OMIM:610488 TTC9 skos:exactMatch ncbigene:23508 semapv:UnspecifiedMatching OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:TTC9 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch ncbigene:23508 semapv:UnspecifiedMatching OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:ACP7 semapv:UnspecifiedMatching OMIM:610490 purple acid phosphatase, long form skos:exactMatch ncbigene:390928 semapv:UnspecifiedMatching OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:SLAIN1 semapv:UnspecifiedMatching OMIM:610491 SLAIN1 skos:exactMatch ncbigene:122060 semapv:UnspecifiedMatching -OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:SLAIN2 semapv:UnspecifiedMatching OMIM:610492 SLAIN2 skos:exactMatch ncbigene:57606 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:SLAIN2 semapv:UnspecifiedMatching OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:DIXDC1 semapv:UnspecifiedMatching OMIM:610493 DIXDC1 skos:exactMatch ncbigene:85458 semapv:UnspecifiedMatching -OMIM:610494 DCAF6 skos:exactMatch ncbigene:55827 semapv:UnspecifiedMatching OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:DCAF6 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch ncbigene:55827 semapv:UnspecifiedMatching OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:IFFO1 semapv:UnspecifiedMatching OMIM:610495 IFFO1 skos:exactMatch ncbigene:25900 semapv:UnspecifiedMatching OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:ARHGAP29 semapv:UnspecifiedMatching OMIM:610496 ARHGAP29 skos:exactMatch ncbigene:9411 semapv:UnspecifiedMatching -OMIM:610497 BRE skos:exactMatch hgnc.symbol:BABAM2 semapv:UnspecifiedMatching OMIM:610497 BRE skos:exactMatch ncbigene:9577 semapv:UnspecifiedMatching -OMIM:610499 RAPGEF6 skos:exactMatch ncbigene:51735 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch hgnc.symbol:BABAM2 semapv:UnspecifiedMatching OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:RAPGEF6 semapv:UnspecifiedMatching -OMIM:610500 ANKHD1 skos:exactMatch ncbigene:54882 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch ncbigene:51735 semapv:UnspecifiedMatching OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:ANKHD1 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch ncbigene:54882 semapv:UnspecifiedMatching OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:NBPF1 semapv:UnspecifiedMatching OMIM:610501 NBPF1 skos:exactMatch ncbigene:55672 semapv:UnspecifiedMatching OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:RTN4IP1 semapv:UnspecifiedMatching OMIM:610502 RTN4IP1 skos:exactMatch ncbigene:84816 semapv:UnspecifiedMatching -OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:CDIP1 semapv:UnspecifiedMatching OMIM:610503 CDIP1 skos:exactMatch ncbigene:29965 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:CDIP1 semapv:UnspecifiedMatching OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:PAF1 semapv:UnspecifiedMatching OMIM:610506 PAF1 skos:exactMatch ncbigene:54623 semapv:UnspecifiedMatching -OMIM:610507 LEO1 skos:exactMatch ncbigene:123169 semapv:UnspecifiedMatching OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:LEO1 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch ncbigene:123169 semapv:UnspecifiedMatching OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:RIC3 semapv:UnspecifiedMatching OMIM:610509 RIC3 skos:exactMatch ncbigene:79608 semapv:UnspecifiedMatching OMIM:610510 BORA skos:exactMatch hgnc.symbol:BORA semapv:UnspecifiedMatching OMIM:610510 BORA skos:exactMatch ncbigene:79866 semapv:UnspecifiedMatching -OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:SEC23A semapv:UnspecifiedMatching OMIM:610511 SEC23A skos:exactMatch ncbigene:10484 semapv:UnspecifiedMatching -OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:SEC23B semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:SEC23A semapv:UnspecifiedMatching OMIM:610512 SEC23B skos:exactMatch ncbigene:10483 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:ATP13A2 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch ncbigene:23400 semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:SEC23B semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1540215 semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:ATP13A2 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch ncbigene:23400 semapv:UnspecifiedMatching OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:JADE1 semapv:UnspecifiedMatching OMIM:610514 PHF17 skos:exactMatch ncbigene:79960 semapv:UnspecifiedMatching -OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:JADE2 semapv:UnspecifiedMatching OMIM:610515 PHF15 skos:exactMatch ncbigene:23338 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:JADE2 semapv:UnspecifiedMatching OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:GLYCTK semapv:UnspecifiedMatching OMIM:610516 GLYCTK skos:exactMatch ncbigene:132158 semapv:UnspecifiedMatching OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:CNTNAP3 semapv:UnspecifiedMatching OMIM:610517 CNTNAP3 skos:exactMatch ncbigene:79937 semapv:UnspecifiedMatching -OMIM:610518 CNTNAP4 skos:exactMatch ncbigene:85445 semapv:UnspecifiedMatching OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:CNTNAP4 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch ncbigene:85445 semapv:UnspecifiedMatching OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:CNTNAP5 semapv:UnspecifiedMatching OMIM:610519 CNTNAP5 skos:exactMatch ncbigene:129684 semapv:UnspecifiedMatching -OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:CD300LG semapv:UnspecifiedMatching OMIM:610520 CD300LG skos:exactMatch ncbigene:146894 semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:CD300LG semapv:UnspecifiedMatching OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:KCTD12 semapv:UnspecifiedMatching OMIM:610521 KCTD12 skos:exactMatch ncbigene:115207 semapv:UnspecifiedMatching OMIM:610522 coordinated expression to irxa2 skos:exactMatch hgnc.symbol:IRX2-DT semapv:UnspecifiedMatching OMIM:610522 coordinated expression to irxa2 skos:exactMatch ncbigene:153571 semapv:UnspecifiedMatching -OMIM:610523 CEP41 skos:exactMatch ncbigene:95681 semapv:UnspecifiedMatching OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:CEP41 semapv:UnspecifiedMatching -OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:ERVFRD-1 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch ncbigene:95681 semapv:UnspecifiedMatching OMIM:610524 ERVFRD1 skos:exactMatch ncbigene:405754 semapv:UnspecifiedMatching -OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:NT5C1A semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:ERVFRD-1 semapv:UnspecifiedMatching OMIM:610525 NT5C1A skos:exactMatch ncbigene:84618 semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:NT5C1A semapv:UnspecifiedMatching OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:NT5C1B semapv:UnspecifiedMatching OMIM:610526 NT5C1B skos:exactMatch ncbigene:93034 semapv:UnspecifiedMatching OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:TMX1 semapv:UnspecifiedMatching OMIM:610527 TXNDC1 skos:exactMatch ncbigene:81542 semapv:UnspecifiedMatching -OMIM:610528 CHD8 skos:exactMatch ncbigene:57680 semapv:UnspecifiedMatching OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:CHD8 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch ncbigene:57680 semapv:UnspecifiedMatching OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:TUSC1 semapv:UnspecifiedMatching OMIM:610529 TUSC1 skos:exactMatch ncbigene:286319 semapv:UnspecifiedMatching -OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:TRIM41 semapv:UnspecifiedMatching OMIM:610530 TRIM41 skos:exactMatch ncbigene:90933 semapv:UnspecifiedMatching -OMIM:610531 HYCC1 skos:exactMatch hgnc.symbol:HYCC1 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:TRIM41 semapv:UnspecifiedMatching OMIM:610531 HYCC1 skos:exactMatch ncbigene:84668 semapv:UnspecifiedMatching -OMIM:610533 WWC1 skos:exactMatch ncbigene:23286 semapv:UnspecifiedMatching +OMIM:610531 HYCC1 skos:exactMatch hgnc.symbol:HYCC1 semapv:UnspecifiedMatching OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:WWC1 semapv:UnspecifiedMatching -OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch ncbigene:23286 semapv:UnspecifiedMatching OMIM:610534 DCPS skos:exactMatch hgnc.symbol:DCPS semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:DPP7 semapv:UnspecifiedMatching OMIM:610537 DPP7 skos:exactMatch ncbigene:29952 semapv:UnspecifiedMatching OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:UBE2T semapv:UnspecifiedMatching OMIM:610538 UBE2T skos:exactMatch ncbigene:29089 semapv:UnspecifiedMatching -OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:GNAS-AS1 semapv:UnspecifiedMatching OMIM:610540 GNASAS1 skos:exactMatch ncbigene:149775 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:GNAS-AS1 semapv:UnspecifiedMatching OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:PPP1R3B semapv:UnspecifiedMatching OMIM:610541 PPP1R3B skos:exactMatch ncbigene:79660 semapv:UnspecifiedMatching -OMIM:610544 IGFL1 skos:exactMatch ncbigene:374918 semapv:UnspecifiedMatching OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:IGFL1 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch ncbigene:374918 semapv:UnspecifiedMatching OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:IGFL2 semapv:UnspecifiedMatching OMIM:610545 IGFL2 skos:exactMatch ncbigene:147920 semapv:UnspecifiedMatching OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:IGFL3 semapv:UnspecifiedMatching OMIM:610546 IGFL3 skos:exactMatch ncbigene:388555 semapv:UnspecifiedMatching -OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:IGFL4 semapv:UnspecifiedMatching OMIM:610547 IGFL4 skos:exactMatch ncbigene:444882 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:IGFL4 semapv:UnspecifiedMatching OMIM:610548 AQR skos:exactMatch hgnc.symbol:AQR semapv:UnspecifiedMatching OMIM:610548 AQR skos:exactMatch ncbigene:9716 semapv:UnspecifiedMatching -OMIM:610550 MAT1A skos:exactMatch ncbigene:4143 semapv:UnspecifiedMatching OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:MAT1A semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch UMLS:C1428004 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch ncbigene:4143 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch ncbigene:79876 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:UBA5 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch ncbigene:79876 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch UMLS:C1428004 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:UFM1 semapv:UnspecifiedMatching OMIM:610553 UFM1 skos:exactMatch ncbigene:51569 semapv:UnspecifiedMatching OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:UFC1 semapv:UnspecifiedMatching OMIM:610554 UFC1 skos:exactMatch ncbigene:51506 semapv:UnspecifiedMatching -OMIM:610555 C1GALT1 skos:exactMatch ncbigene:56913 semapv:UnspecifiedMatching OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:C1GALT1 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch ncbigene:56913 semapv:UnspecifiedMatching OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:HAR1A semapv:UnspecifiedMatching OMIM:610556 HAR1A skos:exactMatch ncbigene:768096 semapv:UnspecifiedMatching OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:HAR1B semapv:UnspecifiedMatching OMIM:610557 HAR1B skos:exactMatch ncbigene:768097 semapv:UnspecifiedMatching -OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:MAPKAP1 semapv:UnspecifiedMatching OMIM:610558 MAPKAP1 skos:exactMatch ncbigene:79109 semapv:UnspecifiedMatching -OMIM:610559 RASSF4 skos:exactMatch ncbigene:83937 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:MAPKAP1 semapv:UnspecifiedMatching OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:RASSF4 semapv:UnspecifiedMatching -OMIM:610560 PRSS36 skos:exactMatch ncbigene:146547 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch ncbigene:83937 semapv:UnspecifiedMatching OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:PRSS36 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch ncbigene:146547 semapv:UnspecifiedMatching OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:PRSS53 semapv:UnspecifiedMatching OMIM:610561 PRSS53 skos:exactMatch ncbigene:339105 semapv:UnspecifiedMatching OMIM:610562 ZC3H12A skos:exactMatch UMLS:C1823924 semapv:UnspecifiedMatching OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:ZC3H12A semapv:UnspecifiedMatching OMIM:610562 ZC3H12A skos:exactMatch ncbigene:80149 semapv:UnspecifiedMatching -OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:KPNA6 semapv:UnspecifiedMatching OMIM:610563 KPNA6 skos:exactMatch ncbigene:23633 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:KPNA6 semapv:UnspecifiedMatching OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:PDSS2 semapv:UnspecifiedMatching OMIM:610564 PDSS2 skos:exactMatch ncbigene:57107 semapv:UnspecifiedMatching -OMIM:610565 DNAL4 skos:exactMatch ncbigene:10126 semapv:UnspecifiedMatching OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:DNAL4 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch ncbigene:10126 semapv:UnspecifiedMatching OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:MIR146A semapv:UnspecifiedMatching OMIM:610566 MIR146A skos:exactMatch ncbigene:406938 semapv:UnspecifiedMatching OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:MIR146B semapv:UnspecifiedMatching OMIM:610567 MIR146B skos:exactMatch ncbigene:574447 semapv:UnspecifiedMatching -OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:ZNF687 semapv:UnspecifiedMatching OMIM:610568 ZNF687 skos:exactMatch ncbigene:57592 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:ZNF687 semapv:UnspecifiedMatching OMIM:610569 USP24 skos:exactMatch hgnc.symbol:USP24 semapv:UnspecifiedMatching OMIM:610569 USP24 skos:exactMatch ncbigene:23358 semapv:UnspecifiedMatching -OMIM:610570 USP40 skos:exactMatch ncbigene:55230 semapv:UnspecifiedMatching OMIM:610570 USP40 skos:exactMatch hgnc.symbol:USP40 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch ncbigene:55230 semapv:UnspecifiedMatching OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:FKBP11 semapv:UnspecifiedMatching OMIM:610571 FKBP11 skos:exactMatch ncbigene:51303 semapv:UnspecifiedMatching OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:MARVELD2 semapv:UnspecifiedMatching OMIM:610572 MARVELD2 skos:exactMatch ncbigene:153562 semapv:UnspecifiedMatching -OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:RSPO4 semapv:UnspecifiedMatching OMIM:610573 RSPO4 skos:exactMatch ncbigene:343637 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:RSPO4 semapv:UnspecifiedMatching OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:RSPO3 semapv:UnspecifiedMatching OMIM:610574 RSPO3 skos:exactMatch ncbigene:84870 semapv:UnspecifiedMatching -OMIM:610575 RSPO2 skos:exactMatch ncbigene:340419 semapv:UnspecifiedMatching OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:RSPO2 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch ncbigene:340419 semapv:UnspecifiedMatching OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:ARHGAP9 semapv:UnspecifiedMatching OMIM:610576 ARHGAP9 skos:exactMatch ncbigene:64333 semapv:UnspecifiedMatching OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:ARHGAP12 semapv:UnspecifiedMatching OMIM:610577 ARHGAP12 skos:exactMatch ncbigene:94134 semapv:UnspecifiedMatching OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:ARHGAP15 semapv:UnspecifiedMatching OMIM:610578 ARHGAP15 skos:exactMatch ncbigene:55843 semapv:UnspecifiedMatching -OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:RCSD1 semapv:UnspecifiedMatching OMIM:610579 RCSD1 skos:exactMatch ncbigene:92241 semapv:UnspecifiedMatching -OMIM:610580 PIM3 skos:exactMatch ncbigene:415116 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:RCSD1 semapv:UnspecifiedMatching OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:PIM3 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch ncbigene:415116 semapv:UnspecifiedMatching OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:COPG2IT1 semapv:UnspecifiedMatching OMIM:610581 COPG2IT1 skos:exactMatch ncbigene:53844 semapv:UnspecifiedMatching OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:ANKRD6 semapv:UnspecifiedMatching OMIM:610583 ANKRD6 skos:exactMatch ncbigene:22881 semapv:UnspecifiedMatching -OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:TRIM67 semapv:UnspecifiedMatching OMIM:610584 TRIM67 skos:exactMatch ncbigene:440730 semapv:UnspecifiedMatching -OMIM:610585 ARHGAP22 skos:exactMatch ncbigene:58504 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:TRIM67 semapv:UnspecifiedMatching OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:ARHGAP22 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch ncbigene:58504 semapv:UnspecifiedMatching OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:ARHGAP24 semapv:UnspecifiedMatching OMIM:610586 ARHGAP24 skos:exactMatch ncbigene:83478 semapv:UnspecifiedMatching OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:ARHGAP25 semapv:UnspecifiedMatching OMIM:610587 ARHGAP25 skos:exactMatch ncbigene:9938 semapv:UnspecifiedMatching OMIM:610588 DDN skos:exactMatch hgnc.symbol:DDN semapv:UnspecifiedMatching OMIM:610588 DDN skos:exactMatch ncbigene:23109 semapv:UnspecifiedMatching -OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:ARHGAP11A semapv:UnspecifiedMatching OMIM:610589 ARHGAP11A skos:exactMatch ncbigene:9824 semapv:UnspecifiedMatching -OMIM:610590 ARHGAP23 skos:exactMatch ncbigene:57636 semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:ARHGAP11A semapv:UnspecifiedMatching OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:ARHGAP23 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch ncbigene:57636 semapv:UnspecifiedMatching OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:ARHGAP27 semapv:UnspecifiedMatching OMIM:610591 ARHGAP27 skos:exactMatch ncbigene:201176 semapv:UnspecifiedMatching OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:ARHGAP28 semapv:UnspecifiedMatching OMIM:610592 ARHGAP28 skos:exactMatch ncbigene:79822 semapv:UnspecifiedMatching OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:MAP6D1 semapv:UnspecifiedMatching OMIM:610593 MAP6D1 skos:exactMatch ncbigene:79929 semapv:UnspecifiedMatching -OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:FNIP1 semapv:UnspecifiedMatching OMIM:610594 FNIP1 skos:exactMatch ncbigene:96459 semapv:UnspecifiedMatching -OMIM:610595 FLAD1 skos:exactMatch ncbigene:80308 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:FNIP1 semapv:UnspecifiedMatching OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:FLAD1 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch ncbigene:80308 semapv:UnspecifiedMatching OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:BOP1 semapv:UnspecifiedMatching OMIM:610596 BOP1 skos:exactMatch ncbigene:23246 semapv:UnspecifiedMatching OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:GRWD1 semapv:UnspecifiedMatching OMIM:610597 GRWD1 skos:exactMatch ncbigene:83743 semapv:UnspecifiedMatching OMIM:610598 PRCD skos:exactMatch hgnc.symbol:PRCD semapv:UnspecifiedMatching OMIM:610598 PRCD skos:exactMatch ncbigene:768206 semapv:UnspecifiedMatching -OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:KLK15 semapv:UnspecifiedMatching OMIM:610601 KLK15 skos:exactMatch ncbigene:55554 semapv:UnspecifiedMatching -OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:ALKBH2 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:KLK15 semapv:UnspecifiedMatching OMIM:610602 ALKBH2 skos:exactMatch ncbigene:121642 semapv:UnspecifiedMatching -OMIM:610603 ALKBH3 skos:exactMatch ncbigene:221120 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:ALKBH2 semapv:UnspecifiedMatching OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:ALKBH3 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch ncbigene:221120 semapv:UnspecifiedMatching OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:KIR3DP1 semapv:UnspecifiedMatching OMIM:610604 KIR3DP1 skos:exactMatch ncbigene:548594 semapv:UnspecifiedMatching OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:CPEB2 semapv:UnspecifiedMatching OMIM:610605 CPEB2 skos:exactMatch ncbigene:132864 semapv:UnspecifiedMatching OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:CPEB3 semapv:UnspecifiedMatching OMIM:610606 CPEB3 skos:exactMatch ncbigene:22849 semapv:UnspecifiedMatching -OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:CPEB4 semapv:UnspecifiedMatching OMIM:610607 CPEB4 skos:exactMatch ncbigene:80315 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch ncbigene:9837 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:GINS1 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:CPEB4 semapv:UnspecifiedMatching OMIM:610608 GINS1 skos:exactMatch UMLS:C1825347 semapv:UnspecifiedMatching OMIM:610608 GINS1 skos:exactMatch UMLS:C4693356 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:GINS1 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch ncbigene:9837 semapv:UnspecifiedMatching OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:GINS2 semapv:UnspecifiedMatching OMIM:610609 GINS2 skos:exactMatch ncbigene:51659 semapv:UnspecifiedMatching -OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:GINS3 semapv:UnspecifiedMatching OMIM:610610 GINS3 skos:exactMatch ncbigene:64785 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:GINS3 semapv:UnspecifiedMatching OMIM:610611 GINS4 skos:exactMatch ncbigene:84296 semapv:UnspecifiedMatching OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:GINS4 semapv:UnspecifiedMatching -OMIM:610613 CYP11B1 skos:exactMatch ncbigene:1584 semapv:UnspecifiedMatching OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:CYP11B1 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch ncbigene:1584 semapv:UnspecifiedMatching OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:TBRG1 semapv:UnspecifiedMatching OMIM:610614 TBRG1 skos:exactMatch ncbigene:84897 semapv:UnspecifiedMatching OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:RABL6 semapv:UnspecifiedMatching OMIM:610615 RABL6 skos:exactMatch ncbigene:55684 semapv:UnspecifiedMatching OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:ANKRD12 semapv:UnspecifiedMatching OMIM:610616 ANKRD12 skos:exactMatch ncbigene:23253 semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch ncbigene:51514 semapv:UnspecifiedMatching OMIM:610617 DTL skos:exactMatch UMLS:C1824983 semapv:UnspecifiedMatching OMIM:610617 DTL skos:exactMatch hgnc.symbol:DTL semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch ncbigene:51514 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching OMIM:610618 angioedema, hereditary, 3 skos:exactMatch UMLS:C1857728 semapv:UnspecifiedMatching OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching OMIM:610619 F12 skos:exactMatch hgnc.symbol:F12 semapv:UnspecifiedMatching OMIM:610619 F12 skos:exactMatch ncbigene:2161 semapv:UnspecifiedMatching OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:ADPRHL1 semapv:UnspecifiedMatching OMIM:610620 ADPRHL1 skos:exactMatch ncbigene:113622 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch hgnc.symbol:INTU semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch ncbigene:27152 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C4694024 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C1825613 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C1825613 semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch UMLS:C1825324 semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch hgnc.symbol:FUZ semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch ncbigene:80199 semapv:UnspecifiedMatching OMIM:610623 cataract 11, multiple types skos:exactMatch UMLS:C1864567 semapv:UnspecifiedMatching OMIM:610623 cataract 11, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:610624 ADPRHL2 skos:exactMatch ncbigene:54936 semapv:UnspecifiedMatching OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:ADPRS semapv:UnspecifiedMatching -OMIM:610625 ART5 skos:exactMatch hgnc.symbol:ART5 semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch ncbigene:54936 semapv:UnspecifiedMatching OMIM:610625 ART5 skos:exactMatch ncbigene:116969 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch hgnc.symbol:ART5 semapv:UnspecifiedMatching OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:PLPP5 semapv:UnspecifiedMatching OMIM:610626 PLPP5 skos:exactMatch ncbigene:84513 semapv:UnspecifiedMatching OMIM:610627 A2ML1 skos:exactMatch UMLS:C1825487 semapv:UnspecifiedMatching @@ -29109,30 +29113,30 @@ OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:MICU3 semapv:UnspecifiedMatching OMIM:610633 MICU3 skos:exactMatch ncbigene:286097 semapv:UnspecifiedMatching OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:CTHRC1 semapv:UnspecifiedMatching OMIM:610635 CTHRC1 skos:exactMatch ncbigene:115908 semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch ncbigene:407019 semapv:UnspecifiedMatching OMIM:610636 MIR27B skos:exactMatch UMLS:C1537730 semapv:UnspecifiedMatching OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:MIR27B semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch ncbigene:407019 semapv:UnspecifiedMatching OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:MARCHF5 semapv:UnspecifiedMatching OMIM:610637 MARCHF5 skos:exactMatch ncbigene:54708 semapv:UnspecifiedMatching OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:IGSF5 semapv:UnspecifiedMatching OMIM:610638 IGSF5 skos:exactMatch ncbigene:150084 semapv:UnspecifiedMatching OMIM:610639 GRID2IP1 skos:exactMatch ncbigene:392862 semapv:UnspecifiedMatching OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:GRID2IP semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:YTHDF2 semapv:UnspecifiedMatching OMIM:610640 YTHDF2 skos:exactMatch ncbigene:51441 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:YTHDF2 semapv:UnspecifiedMatching OMIM:610640 YTHDF2 skos:exactMatch UMLS:C1538134 semapv:UnspecifiedMatching -OMIM:610641 TUT1 skos:exactMatch ncbigene:64852 semapv:UnspecifiedMatching OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:TUT1 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch ncbigene:64852 semapv:UnspecifiedMatching OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:ERP27 semapv:UnspecifiedMatching OMIM:610642 ERP27 skos:exactMatch ncbigene:121506 semapv:UnspecifiedMatching OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:CIP2A semapv:UnspecifiedMatching OMIM:610643 CIP2A skos:exactMatch ncbigene:57650 semapv:UnspecifiedMatching OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:CIB3 semapv:UnspecifiedMatching OMIM:610645 CIB3 skos:exactMatch ncbigene:117286 semapv:UnspecifiedMatching -OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:CIB4 semapv:UnspecifiedMatching OMIM:610646 CIB4 skos:exactMatch ncbigene:130106 semapv:UnspecifiedMatching -OMIM:610647 NAT8L skos:exactMatch ncbigene:339983 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:CIB4 semapv:UnspecifiedMatching OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:NAT8L semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch ncbigene:339983 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch UMLS:C1426179 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:CUX2 semapv:UnspecifiedMatching @@ -29141,74 +29145,74 @@ OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:ADRM1 semapv:UnspecifiedMatching OMIM:610650 ADRM1 skos:exactMatch ncbigene:11047 semapv:UnspecifiedMatching OMIM:610652 PDE10A skos:exactMatch ncbigene:10846 semapv:UnspecifiedMatching OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:PDE10A semapv:UnspecifiedMatching -OMIM:610653 RRP1 skos:exactMatch ncbigene:8568 semapv:UnspecifiedMatching OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:RRP1 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch ncbigene:8568 semapv:UnspecifiedMatching OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:RRP1B semapv:UnspecifiedMatching OMIM:610654 RRP1B skos:exactMatch ncbigene:23076 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:KYAT3 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch ncbigene:56267 semapv:UnspecifiedMatching OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:WASHC5 semapv:UnspecifiedMatching OMIM:610657 WASHC5 skos:exactMatch ncbigene:9897 semapv:UnspecifiedMatching -OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:TRIM29 semapv:UnspecifiedMatching OMIM:610658 TRIM29 skos:exactMatch ncbigene:23650 semapv:UnspecifiedMatching -OMIM:610659 GRID1 skos:exactMatch ncbigene:2894 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:TRIM29 semapv:UnspecifiedMatching OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:GRID1 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch ncbigene:2894 semapv:UnspecifiedMatching OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:GLYR1 semapv:UnspecifiedMatching OMIM:610660 GLYR1 skos:exactMatch ncbigene:84656 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch ncbigene:55768 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch UMLS:C1425023 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:NGLY1 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch ncbigene:55768 semapv:UnspecifiedMatching -OMIM:610662 PIGY skos:exactMatch hgnc.symbol:PIGY semapv:UnspecifiedMatching OMIM:610662 PIGY skos:exactMatch ncbigene:84992 semapv:UnspecifiedMatching -OMIM:610663 SMYD2 skos:exactMatch ncbigene:56950 semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch hgnc.symbol:PIGY semapv:UnspecifiedMatching OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:SMYD2 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch ncbigene:56950 semapv:UnspecifiedMatching OMIM:610664 BLTP2 skos:exactMatch hgnc.symbol:BLTP2 semapv:UnspecifiedMatching OMIM:610664 BLTP2 skos:exactMatch ncbigene:9703 semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch UMLS:C1414556 semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch UMLS:C4017227 semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:FCGR3B semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch ncbigene:2215 semapv:UnspecifiedMatching -OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:NRSN2 semapv:UnspecifiedMatching OMIM:610666 NRSN2 skos:exactMatch ncbigene:80023 semapv:UnspecifiedMatching -OMIM:610667 UCHL5 skos:exactMatch ncbigene:51377 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:NRSN2 semapv:UnspecifiedMatching OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:UCHL5 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch ncbigene:51377 semapv:UnspecifiedMatching OMIM:610668 INSC skos:exactMatch UMLS:C1825602 semapv:UnspecifiedMatching OMIM:610668 INSC skos:exactMatch hgnc.symbol:INSC semapv:UnspecifiedMatching OMIM:610668 INSC skos:exactMatch ncbigene:387755 semapv:UnspecifiedMatching OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:TNIP2 semapv:UnspecifiedMatching OMIM:610669 TNIP2 skos:exactMatch ncbigene:79155 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch UMLS:C1427016 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:CYP2U1 semapv:UnspecifiedMatching OMIM:610670 CYP2U1 skos:exactMatch ncbigene:113612 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch ncbigene:89887 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:CYP2U1 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch UMLS:C1427016 semapv:UnspecifiedMatching OMIM:610671 ZNF628 skos:exactMatch UMLS:C1538207 semapv:UnspecifiedMatching OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:ZNF628 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch ncbigene:89887 semapv:UnspecifiedMatching OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:NACC1 semapv:UnspecifiedMatching OMIM:610672 NACC1 skos:exactMatch ncbigene:112939 semapv:UnspecifiedMatching OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:NAIF1 semapv:UnspecifiedMatching OMIM:610673 NAIF1 skos:exactMatch ncbigene:203245 semapv:UnspecifiedMatching -OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:SPEF1 semapv:UnspecifiedMatching OMIM:610674 SPEF1 skos:exactMatch ncbigene:25876 semapv:UnspecifiedMatching -OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:SPEF1 semapv:UnspecifiedMatching OMIM:610675 USE1 skos:exactMatch hgnc.symbol:USE1 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:LSM14A semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch ncbigene:26065 semapv:UnspecifiedMatching OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:CDK14 semapv:UnspecifiedMatching OMIM:610679 CDK14 skos:exactMatch ncbigene:5218 semapv:UnspecifiedMatching OMIM:610681 PFKM skos:exactMatch hgnc.symbol:PFKM semapv:UnspecifiedMatching OMIM:610681 PFKM skos:exactMatch ncbigene:5213 semapv:UnspecifiedMatching -OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:BBS12 semapv:UnspecifiedMatching OMIM:610683 BBS12 skos:exactMatch ncbigene:166379 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:BBS12 semapv:UnspecifiedMatching OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:CTDNEP1 semapv:UnspecifiedMatching OMIM:610684 CTDNEP1 skos:exactMatch ncbigene:23399 semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:UBXN2B semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch ncbigene:137886 semapv:UnspecifiedMatching OMIM:610687 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching OMIM:610687 nemaline myopathy 7 skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching -OMIM:610689 dipla1, antisense skos:exactMatch ncbigene:493913 semapv:UnspecifiedMatching OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:PAPPA-AS1 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch ncbigene:493913 semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch ncbigene:26275 semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:HIBCH semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch UMLS:C0342738 semapv:UnspecifiedMatching @@ -29217,22 +29221,22 @@ OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:PRUNE2 semapv:UnspecifiedMatching OMIM:610691 PRUNE2 skos:exactMatch ncbigene:158471 semapv:UnspecifiedMatching OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:HSPB7 semapv:UnspecifiedMatching OMIM:610692 HSPB7 skos:exactMatch ncbigene:27129 semapv:UnspecifiedMatching -OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:HYLS1 semapv:UnspecifiedMatching OMIM:610693 HYLS1 skos:exactMatch ncbigene:219844 semapv:UnspecifiedMatching -OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:PGPEP1 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:HYLS1 semapv:UnspecifiedMatching OMIM:610694 PGPEP1 skos:exactMatch ncbigene:54858 semapv:UnspecifiedMatching -OMIM:610695 HSPB6 skos:exactMatch ncbigene:126393 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:PGPEP1 semapv:UnspecifiedMatching OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:HSPB6 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch ncbigene:126393 semapv:UnspecifiedMatching OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:PCLAF semapv:UnspecifiedMatching OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch ncbigene:9768 semapv:UnspecifiedMatching OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:PDZD2 semapv:UnspecifiedMatching OMIM:610697 PDZD2 skos:exactMatch ncbigene:23037 semapv:UnspecifiedMatching OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:ZFAND2A semapv:UnspecifiedMatching OMIM:610699 ZFAND2A skos:exactMatch ncbigene:90637 semapv:UnspecifiedMatching -OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:HTRA4 semapv:UnspecifiedMatching OMIM:610700 HTRA4 skos:exactMatch ncbigene:203100 semapv:UnspecifiedMatching -OMIM:610701 HSPA12A skos:exactMatch ncbigene:259217 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:HTRA4 semapv:UnspecifiedMatching OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:HSPA12A semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch ncbigene:259217 semapv:UnspecifiedMatching OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:HSPA12B semapv:UnspecifiedMatching OMIM:610702 HSPA12B skos:exactMatch ncbigene:116835 semapv:UnspecifiedMatching OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:HSPH1 semapv:UnspecifiedMatching @@ -29241,72 +29245,72 @@ OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:PHB2 semapv:UnspecifiedMatching OMIM:610704 PHB2 skos:exactMatch ncbigene:11331 semapv:UnspecifiedMatching OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:CD300LB semapv:UnspecifiedMatching OMIM:610705 CD300LB skos:exactMatch ncbigene:124599 semapv:UnspecifiedMatching -OMIM:610709 TSSK1 skos:exactMatch ncbigene:83942 semapv:UnspecifiedMatching OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:TSSK1B semapv:UnspecifiedMatching -OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:TSSK2 semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch ncbigene:83942 semapv:UnspecifiedMatching OMIM:610710 TSSK2 skos:exactMatch ncbigene:23617 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:TSSK2 semapv:UnspecifiedMatching OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:TSSK4 semapv:UnspecifiedMatching OMIM:610711 TSSK4 skos:exactMatch ncbigene:283629 semapv:UnspecifiedMatching OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:TSSK6 semapv:UnspecifiedMatching OMIM:610712 TSSK6 skos:exactMatch ncbigene:83983 semapv:UnspecifiedMatching OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:PKN3 semapv:UnspecifiedMatching OMIM:610714 PKN3 skos:exactMatch ncbigene:29941 semapv:UnspecifiedMatching -OMIM:610715 HEMGN skos:exactMatch ncbigene:55363 semapv:UnspecifiedMatching OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:HEMGN semapv:UnspecifiedMatching -OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:TIPIN semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch ncbigene:55363 semapv:UnspecifiedMatching OMIM:610716 TIPIN skos:exactMatch ncbigene:54962 semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:TIPIN semapv:UnspecifiedMatching OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:MIR195 semapv:UnspecifiedMatching OMIM:610718 MIR195 skos:exactMatch ncbigene:406971 semapv:UnspecifiedMatching OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:MIR199A1 semapv:UnspecifiedMatching OMIM:610719 MIR199A1 skos:exactMatch ncbigene:406976 semapv:UnspecifiedMatching OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:MIR199A2 semapv:UnspecifiedMatching OMIM:610720 MIR199A2 skos:exactMatch ncbigene:406977 semapv:UnspecifiedMatching -OMIM:610721 MIR214 skos:exactMatch ncbigene:406996 semapv:UnspecifiedMatching OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:MIR214 semapv:UnspecifiedMatching -OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:MIR23B semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch ncbigene:406996 semapv:UnspecifiedMatching OMIM:610723 MIR23B skos:exactMatch ncbigene:407011 semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:MIR23B semapv:UnspecifiedMatching OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:MIR24-2 semapv:UnspecifiedMatching OMIM:610724 MIR24-2 skos:exactMatch ncbigene:407013 semapv:UnspecifiedMatching OMIM:610726 TRUB1 skos:exactMatch UMLS:C1423945 semapv:UnspecifiedMatching OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:TRUB1 semapv:UnspecifiedMatching OMIM:610726 TRUB1 skos:exactMatch ncbigene:142940 semapv:UnspecifiedMatching OMIM:610727 TRUB2 skos:exactMatch ncbigene:26995 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:TRUB2 semapv:UnspecifiedMatching OMIM:610727 TRUB2 skos:exactMatch UMLS:C1424793 semapv:UnspecifiedMatching -OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:SMPDL3A semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:TRUB2 semapv:UnspecifiedMatching OMIM:610728 SMPDL3A skos:exactMatch ncbigene:10924 semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:SMPDL3A semapv:UnspecifiedMatching OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:DNAAF10 semapv:UnspecifiedMatching OMIM:610729 WDR92 skos:exactMatch ncbigene:116143 semapv:UnspecifiedMatching OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:CCT6B semapv:UnspecifiedMatching OMIM:610730 CCT6B skos:exactMatch ncbigene:10693 semapv:UnspecifiedMatching -OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:ANKRD7 semapv:UnspecifiedMatching OMIM:610731 ANKRD7 skos:exactMatch ncbigene:56311 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch ncbigene:54970 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:ANKRD7 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:TTC12 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch ncbigene:54970 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch UMLS:C1428204 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching -OMIM:610733 noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching OMIM:610733 noonan syndrome 4 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:610733 noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:ANKRD2 semapv:UnspecifiedMatching OMIM:610734 ANKRD2 skos:exactMatch ncbigene:26287 semapv:UnspecifiedMatching OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:MYOZ3 semapv:UnspecifiedMatching OMIM:610735 MYOZ3 skos:exactMatch ncbigene:91977 semapv:UnspecifiedMatching -OMIM:610736 ANKRD23 skos:exactMatch ncbigene:200539 semapv:UnspecifiedMatching OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:ANKRD23 semapv:UnspecifiedMatching -OMIM:610737 KSR2 skos:exactMatch ncbigene:283455 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch ncbigene:200539 semapv:UnspecifiedMatching OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:KSR2 semapv:UnspecifiedMatching -OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:TNRC6A semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch ncbigene:283455 semapv:UnspecifiedMatching OMIM:610739 TNRC6A skos:exactMatch ncbigene:27327 semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:TNRC6A semapv:UnspecifiedMatching OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:TNRC6B semapv:UnspecifiedMatching OMIM:610740 TNRC6B skos:exactMatch ncbigene:23112 semapv:UnspecifiedMatching OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:TNRC6C semapv:UnspecifiedMatching OMIM:610741 TNRC6C skos:exactMatch ncbigene:57690 semapv:UnspecifiedMatching OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:MOV10 semapv:UnspecifiedMatching OMIM:610742 MOV10 skos:exactMatch ncbigene:4343 semapv:UnspecifiedMatching -OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching -OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:STRA6 semapv:UnspecifiedMatching +OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching OMIM:610745 STRA6 skos:exactMatch ncbigene:64220 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:STRA6 semapv:UnspecifiedMatching OMIM:610746 DOLK skos:exactMatch hgnc.symbol:DOLK semapv:UnspecifiedMatching OMIM:610746 DOLK skos:exactMatch ncbigene:22845 semapv:UnspecifiedMatching OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:SAMD4A semapv:UnspecifiedMatching @@ -29315,92 +29319,92 @@ OMIM:610748 USP28 skos:exactMatch hgnc.symbol:USP28 semapv:UnspecifiedMatching OMIM:610748 USP28 skos:exactMatch ncbigene:57646 semapv:UnspecifiedMatching OMIM:610749 KLHL31 skos:exactMatch ncbigene:401265 semapv:UnspecifiedMatching OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:KLHL31 semapv:UnspecifiedMatching -OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:ZCRB1 semapv:UnspecifiedMatching OMIM:610750 ZCRB1 skos:exactMatch ncbigene:85437 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:ZCRB1 semapv:UnspecifiedMatching OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:PRTFDC1 semapv:UnspecifiedMatching OMIM:610751 PRTFDC1 skos:exactMatch ncbigene:56952 semapv:UnspecifiedMatching OMIM:610752 UST skos:exactMatch hgnc.symbol:UST semapv:UnspecifiedMatching OMIM:610752 UST skos:exactMatch ncbigene:10090 semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch ncbigene:23063 semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch hgnc.symbol:WAPL semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch UMLS:C1823656 semapv:UnspecifiedMatching -OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:CCL4L2 semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch ncbigene:23063 semapv:UnspecifiedMatching OMIM:610757 CCL4L2 skos:exactMatch ncbigene:9560 semapv:UnspecifiedMatching -OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:CCL4L2 semapv:UnspecifiedMatching OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching OMIM:610762 high density lipoprotein cholesterol level quantitative trait locus 6 skos:exactMatch UMLS:C1853096 semapv:UnspecifiedMatching OMIM:610763 NANP skos:exactMatch hgnc.symbol:NANP semapv:UnspecifiedMatching OMIM:610763 NANP skos:exactMatch ncbigene:140838 semapv:UnspecifiedMatching -OMIM:610764 BZRAP1 skos:exactMatch ncbigene:9256 semapv:UnspecifiedMatching OMIM:610764 BZRAP1 skos:exactMatch hgnc.symbol:TSPOAP1 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch ncbigene:55329 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:MNS1 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching +OMIM:610764 BZRAP1 skos:exactMatch ncbigene:9256 semapv:UnspecifiedMatching OMIM:610766 MNS1 skos:exactMatch UMLS:C1826263 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:MNS1 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch ncbigene:55329 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch ncbigene:55054 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:ATG16L1 semapv:UnspecifiedMatching OMIM:610767 ATG16L1 skos:exactMatch UMLS:C1825502 semapv:UnspecifiedMatching OMIM:610767 ATG16L1 skos:exactMatch UMLS:C4310865 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:ATG16L1 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch ncbigene:55054 semapv:UnspecifiedMatching OMIM:610769 NOC3L skos:exactMatch UMLS:C1835848 semapv:UnspecifiedMatching OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:NOC3L semapv:UnspecifiedMatching OMIM:610769 NOC3L skos:exactMatch ncbigene:64318 semapv:UnspecifiedMatching OMIM:610770 NOC2L skos:exactMatch ncbigene:26155 semapv:UnspecifiedMatching OMIM:610770 NOC2L skos:exactMatch UMLS:C1826446 semapv:UnspecifiedMatching OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:NOC2L semapv:UnspecifiedMatching -OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:CHD5 semapv:UnspecifiedMatching OMIM:610771 CHD5 skos:exactMatch ncbigene:26038 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:CHD5 semapv:UnspecifiedMatching OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:NKX6-3 semapv:UnspecifiedMatching OMIM:610772 NKX6-3 skos:exactMatch ncbigene:157848 semapv:UnspecifiedMatching OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch ncbigene:10695 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:CNPY3 semapv:UnspecifiedMatching OMIM:610774 CNPY3 skos:exactMatch UMLS:C1420844 semapv:UnspecifiedMatching OMIM:610774 CNPY3 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching -OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:TIGAR semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:CNPY3 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch ncbigene:10695 semapv:UnspecifiedMatching OMIM:610775 TIGAR skos:exactMatch ncbigene:57103 semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:TIGAR semapv:UnspecifiedMatching OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:DRAM1 semapv:UnspecifiedMatching OMIM:610776 DRAM1 skos:exactMatch ncbigene:55332 semapv:UnspecifiedMatching OMIM:610777 NGDN skos:exactMatch hgnc.symbol:NGDN semapv:UnspecifiedMatching OMIM:610777 NGDN skos:exactMatch ncbigene:25983 semapv:UnspecifiedMatching -OMIM:610778 GNB1L skos:exactMatch ncbigene:54584 semapv:UnspecifiedMatching OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:GNB1L semapv:UnspecifiedMatching -OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:NUBP2 semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch ncbigene:54584 semapv:UnspecifiedMatching OMIM:610779 NUBP2 skos:exactMatch ncbigene:10101 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch UMLS:C1825910 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:LSG1 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:NUBP2 semapv:UnspecifiedMatching OMIM:610780 LSG1 skos:exactMatch ncbigene:55341 semapv:UnspecifiedMatching -OMIM:610781 GMPR2 skos:exactMatch ncbigene:51292 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:LSG1 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch UMLS:C1825910 semapv:UnspecifiedMatching OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:GMPR2 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch ncbigene:51292 semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch UMLS:C1835841 semapv:UnspecifiedMatching OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:MIR29A semapv:UnspecifiedMatching OMIM:610782 MIR29A skos:exactMatch ncbigene:407021 semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch UMLS:C1835841 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch ncbigene:407024 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:MIR29B1 semapv:UnspecifiedMatching OMIM:610783 MIR29B1 skos:exactMatch UMLS:C1835840 semapv:UnspecifiedMatching -OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:MIR29C semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:MIR29B1 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch ncbigene:407024 semapv:UnspecifiedMatching OMIM:610784 MIR29C skos:exactMatch ncbigene:407026 semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:MIR29C semapv:UnspecifiedMatching OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:PDIK1L semapv:UnspecifiedMatching OMIM:610785 PDIK1L skos:exactMatch ncbigene:149420 semapv:UnspecifiedMatching OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:SRCIN1 semapv:UnspecifiedMatching OMIM:610786 SRCIN1 skos:exactMatch ncbigene:80725 semapv:UnspecifiedMatching OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:PRAC2 semapv:UnspecifiedMatching OMIM:610787 PRAC2 skos:exactMatch ncbigene:360205 semapv:UnspecifiedMatching -OMIM:610788 SLC35B2 skos:exactMatch ncbigene:347734 semapv:UnspecifiedMatching OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:SLC35B2 semapv:UnspecifiedMatching -OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:PDRG1 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch ncbigene:347734 semapv:UnspecifiedMatching OMIM:610789 PDRG1 skos:exactMatch ncbigene:81572 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:PDRG1 semapv:UnspecifiedMatching OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:SLC35B1 semapv:UnspecifiedMatching OMIM:610790 SLC35B1 skos:exactMatch ncbigene:10237 semapv:UnspecifiedMatching OMIM:610791 SLC43A2 skos:exactMatch UMLS:C1539786 semapv:UnspecifiedMatching OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:SLC43A2 semapv:UnspecifiedMatching OMIM:610791 SLC43A2 skos:exactMatch ncbigene:124935 semapv:UnspecifiedMatching -OMIM:610792 SLC22A25 skos:exactMatch ncbigene:387601 semapv:UnspecifiedMatching OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:SLC22A25 semapv:UnspecifiedMatching -OMIM:610793 SLC25A30 skos:exactMatch ncbigene:253512 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch ncbigene:387601 semapv:UnspecifiedMatching OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:SLC25A30 semapv:UnspecifiedMatching -OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:ZSCAN31 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch ncbigene:253512 semapv:UnspecifiedMatching OMIM:610794 ZNF323 skos:exactMatch ncbigene:64288 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:ZSCAN31 semapv:UnspecifiedMatching OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:SORBS3 semapv:UnspecifiedMatching OMIM:610795 SORBS3 skos:exactMatch ncbigene:10174 semapv:UnspecifiedMatching OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:SLC25A31 semapv:UnspecifiedMatching @@ -29438,8 +29442,8 @@ OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:SLC25A33 semapv:UnspecifiedMatc OMIM:610816 SLC25A33 skos:exactMatch ncbigene:84275 semapv:UnspecifiedMatching OMIM:610817 SLC25A34 skos:exactMatch ncbigene:284723 semapv:UnspecifiedMatching OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:SLC25A34 semapv:UnspecifiedMatching -OMIM:610818 SLC25A35 skos:exactMatch ncbigene:399512 semapv:UnspecifiedMatching OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:SLC25A35 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch ncbigene:399512 semapv:UnspecifiedMatching OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:SLC25A38 semapv:UnspecifiedMatching OMIM:610819 SLC25A38 skos:exactMatch ncbigene:54977 semapv:UnspecifiedMatching OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:SLC25A39 semapv:UnspecifiedMatching @@ -29456,8 +29460,8 @@ OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:SLC25A45 semapv:UnspecifiedMatc OMIM:610825 SLC25A45 skos:exactMatch ncbigene:283130 semapv:UnspecifiedMatching OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:SLC25A46 semapv:UnspecifiedMatching OMIM:610826 SLC25A46 skos:exactMatch ncbigene:91137 semapv:UnspecifiedMatching -OMIM:610827 ZNF335 skos:exactMatch ncbigene:63925 semapv:UnspecifiedMatching OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:ZNF335 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch ncbigene:63925 semapv:UnspecifiedMatching OMIM:610831 TBC1D10C skos:exactMatch ncbigene:374403 semapv:UnspecifiedMatching OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:TBC1D10C semapv:UnspecifiedMatching OMIM:610833 NAA20 skos:exactMatch UMLS:C1423824 semapv:UnspecifiedMatching @@ -29479,61 +29483,61 @@ OMIM:610843 UQCR10 skos:exactMatch ncbigene:29796 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch ncbigene:80208 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:SPG11 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C4225253 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C1858479 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C1420344 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:SLC35B3 semapv:UnspecifiedMatching OMIM:610845 SLC35B3 skos:exactMatch ncbigene:51000 semapv:UnspecifiedMatching OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:LRRC10 semapv:UnspecifiedMatching OMIM:610846 LRRC10 skos:exactMatch ncbigene:376132 semapv:UnspecifiedMatching -OMIM:610847 ZNF322 skos:exactMatch ncbigene:79692 semapv:UnspecifiedMatching OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:ZNF322 semapv:UnspecifiedMatching -OMIM:610848 REP15 skos:exactMatch ncbigene:387849 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch ncbigene:79692 semapv:UnspecifiedMatching OMIM:610848 REP15 skos:exactMatch hgnc.symbol:REP15 semapv:UnspecifiedMatching -OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:TTLL6 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch ncbigene:387849 semapv:UnspecifiedMatching OMIM:610849 TTLL6 skos:exactMatch ncbigene:284076 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:TTLL6 semapv:UnspecifiedMatching OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:XAB2 semapv:UnspecifiedMatching OMIM:610850 XAB2 skos:exactMatch ncbigene:56949 semapv:UnspecifiedMatching OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:AP1AR semapv:UnspecifiedMatching OMIM:610851 AP1AR skos:exactMatch ncbigene:55435 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:AHCTF1 semapv:UnspecifiedMatching OMIM:610853 AHCTF1 skos:exactMatch UMLS:C1826615 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:AHCTF1 semapv:UnspecifiedMatching OMIM:610853 AHCTF1 skos:exactMatch ncbigene:25909 semapv:UnspecifiedMatching -OMIM:610855 ANKRD26 skos:exactMatch ncbigene:22852 semapv:UnspecifiedMatching OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:ANKRD26 semapv:UnspecifiedMatching -OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:ANKRD30A semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch ncbigene:22852 semapv:UnspecifiedMatching OMIM:610856 ANKRD30A skos:exactMatch ncbigene:91074 semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:ANKRD30A semapv:UnspecifiedMatching OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:MUCL1 semapv:UnspecifiedMatching OMIM:610857 MUCL1 skos:exactMatch ncbigene:118430 semapv:UnspecifiedMatching OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:RTRAF semapv:UnspecifiedMatching OMIM:610858 RTRAF skos:exactMatch ncbigene:51637 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:CARMIL2 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch ncbigene:146206 semapv:UnspecifiedMatching OMIM:610859 CARMIL2 skos:exactMatch UMLS:C2239891 semapv:UnspecifiedMatching OMIM:610859 CARMIL2 skos:exactMatch UMLS:C4748304 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:CARMIL2 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch ncbigene:146206 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch hgnc.symbol:AGL semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch ncbigene:178 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch UMLS:C3695007 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C1412279 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C3695005 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C3695006 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch UMLS:C3695007 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch hgnc.symbol:AGL semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch ncbigene:178 semapv:UnspecifiedMatching OMIM:610861 SYNE3 skos:exactMatch UMLS:C1426488 semapv:UnspecifiedMatching OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:SYNE3 semapv:UnspecifiedMatching OMIM:610861 SYNE3 skos:exactMatch ncbigene:161176 semapv:UnspecifiedMatching -OMIM:610862 DEGS2 skos:exactMatch ncbigene:123099 semapv:UnspecifiedMatching OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:DEGS2 semapv:UnspecifiedMatching -OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:GNB4 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch ncbigene:123099 semapv:UnspecifiedMatching OMIM:610863 GNB4 skos:exactMatch ncbigene:59345 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:GNB4 semapv:UnspecifiedMatching OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:FLVCR1-DT semapv:UnspecifiedMatching OMIM:610864 FLVCR1-DT skos:exactMatch ncbigene:642946 semapv:UnspecifiedMatching OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:FLVCR2 semapv:UnspecifiedMatching OMIM:610865 FLVCR2 skos:exactMatch ncbigene:55640 semapv:UnspecifiedMatching OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:UCKL1 semapv:UnspecifiedMatching OMIM:610866 UCKL1 skos:exactMatch ncbigene:54963 semapv:UnspecifiedMatching -OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch ncbigene:347730 semapv:UnspecifiedMatching OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:LRRTM1 semapv:UnspecifiedMatching -OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:LRRTM2 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch ncbigene:347730 semapv:UnspecifiedMatching OMIM:610868 LRRTM2 skos:exactMatch ncbigene:26045 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:LRRTM2 semapv:UnspecifiedMatching OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:LRRTM3 semapv:UnspecifiedMatching OMIM:610869 LRRTM3 skos:exactMatch ncbigene:347731 semapv:UnspecifiedMatching OMIM:610870 LRRTM4 skos:exactMatch UMLS:C1537619 semapv:UnspecifiedMatching @@ -29559,8 +29563,8 @@ OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:KMT5B semapv:UnspecifiedMatching OMIM:610881 KMT5B skos:exactMatch ncbigene:51111 semapv:UnspecifiedMatching OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:SSNA1 semapv:UnspecifiedMatching OMIM:610882 SSNA1 skos:exactMatch ncbigene:8636 semapv:UnspecifiedMatching -OMIM:610883 potocki-lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching OMIM:610883 potocki-lupski syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching +OMIM:610883 potocki-lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching OMIM:610884 FAAP24 skos:exactMatch ncbigene:91442 semapv:UnspecifiedMatching OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:FAAP24 semapv:UnspecifiedMatching OMIM:610885 EME1 skos:exactMatch UMLS:C1428432 semapv:UnspecifiedMatching @@ -29569,54 +29573,54 @@ OMIM:610885 EME1 skos:exactMatch ncbigene:146956 semapv:UnspecifiedMatching OMIM:610886 EME2 skos:exactMatch UMLS:C1428650 semapv:UnspecifiedMatching OMIM:610886 EME2 skos:exactMatch hgnc.symbol:EME2 semapv:UnspecifiedMatching OMIM:610886 EME2 skos:exactMatch ncbigene:197342 semapv:UnspecifiedMatching -OMIM:610887 POLN skos:exactMatch hgnc.symbol:POLN semapv:UnspecifiedMatching OMIM:610887 POLN skos:exactMatch ncbigene:353497 semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch hgnc.symbol:POLN semapv:UnspecifiedMatching OMIM:610888 gastric cancer-related gene 224 skos:exactMatch ncbigene:360219 semapv:UnspecifiedMatching OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:IPO11 semapv:UnspecifiedMatching OMIM:610889 IPO11 skos:exactMatch ncbigene:51194 semapv:UnspecifiedMatching -OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:RGS7BP semapv:UnspecifiedMatching OMIM:610890 RGS7BP skos:exactMatch ncbigene:401190 semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:RGS7BP semapv:UnspecifiedMatching OMIM:610891 FAM102A skos:exactMatch hgnc.symbol:EEIG1 semapv:UnspecifiedMatching OMIM:610891 FAM102A skos:exactMatch ncbigene:399665 semapv:UnspecifiedMatching OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:SYT14P1 semapv:UnspecifiedMatching OMIM:610892 SYT14L skos:exactMatch ncbigene:401135 semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch UMLS:C1538455 semapv:UnspecifiedMatching OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:CHMP2A semapv:UnspecifiedMatching OMIM:610893 CHMP2A skos:exactMatch ncbigene:27243 semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch UMLS:C1538455 semapv:UnspecifiedMatching -OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:NRG4 semapv:UnspecifiedMatching OMIM:610894 NRG4 skos:exactMatch ncbigene:145957 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:NRG4 semapv:UnspecifiedMatching OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:WFIKKN2 semapv:UnspecifiedMatching OMIM:610895 WFIKKN2 skos:exactMatch ncbigene:124857 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch UMLS:C4017230 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch UMLS:C1538458 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch UMLS:C4017230 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:CHMP4C semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch ncbigene:92421 semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching OMIM:610900 CHMP5 skos:exactMatch UMLS:C1538460 semapv:UnspecifiedMatching OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:CHMP5 semapv:UnspecifiedMatching OMIM:610900 CHMP5 skos:exactMatch ncbigene:51510 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch ncbigene:79643 semapv:UnspecifiedMatching OMIM:610901 CHMP6 skos:exactMatch UMLS:C1538461 semapv:UnspecifiedMatching OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:CHMP6 semapv:UnspecifiedMatching -OMIM:610902 VTA1 skos:exactMatch ncbigene:51534 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch ncbigene:79643 semapv:UnspecifiedMatching OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:VTA1 semapv:UnspecifiedMatching -OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:VPS36 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch ncbigene:51534 semapv:UnspecifiedMatching OMIM:610903 VPS36 skos:exactMatch ncbigene:51028 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:VPS36 semapv:UnspecifiedMatching OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:SNF8 semapv:UnspecifiedMatching OMIM:610904 SNF8 skos:exactMatch ncbigene:11267 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:VPS25 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch ncbigene:84313 semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:MCMBP semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch ncbigene:79892 semapv:UnspecifiedMatching -OMIM:610911 ARHGAP31 skos:exactMatch ncbigene:57514 semapv:UnspecifiedMatching OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:ARHGAP31 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch ncbigene:57514 semapv:UnspecifiedMatching OMIM:610912 AMTN skos:exactMatch hgnc.symbol:AMTN semapv:UnspecifiedMatching OMIM:610912 AMTN skos:exactMatch ncbigene:401138 semapv:UnspecifiedMatching -OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:ENOX1 semapv:UnspecifiedMatching OMIM:610914 ENOX1 skos:exactMatch ncbigene:55068 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:ENOX1 semapv:UnspecifiedMatching OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:NSUN2 semapv:UnspecifiedMatching OMIM:610916 NSUN2 skos:exactMatch ncbigene:54888 semapv:UnspecifiedMatching OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:RAB34 semapv:UnspecifiedMatching @@ -29631,8 +29635,8 @@ OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:NPAP1 semapv:UnspecifiedMatching OMIM:610922 NPAP1 skos:exactMatch ncbigene:23742 semapv:UnspecifiedMatching OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:SLC35B4 semapv:UnspecifiedMatching OMIM:610923 SLC35B4 skos:exactMatch ncbigene:84912 semapv:UnspecifiedMatching -OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:RBCK1 semapv:UnspecifiedMatching OMIM:610924 RBCK1 skos:exactMatch ncbigene:10616 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:RBCK1 semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch ncbigene:84818 semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:IL17RC semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch UMLS:C1425470 semapv:UnspecifiedMatching @@ -29641,55 +29645,55 @@ OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:SOX17 semapv:UnspecifiedMatching OMIM:610928 SOX17 skos:exactMatch ncbigene:64321 semapv:UnspecifiedMatching OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:ORAI2 semapv:UnspecifiedMatching OMIM:610929 ORAI2 skos:exactMatch ncbigene:80228 semapv:UnspecifiedMatching -OMIM:610930 ORAI3 skos:exactMatch ncbigene:93129 semapv:UnspecifiedMatching OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:ORAI3 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch ncbigene:93129 semapv:UnspecifiedMatching OMIM:610931 ZFAT1 skos:exactMatch ncbigene:57623 semapv:UnspecifiedMatching OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:ZFAT semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch ncbigene:5756 semapv:UnspecifiedMatching OMIM:610932 TWF1 skos:exactMatch UMLS:C1823556 semapv:UnspecifiedMatching OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:TWF1 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch ncbigene:5756 semapv:UnspecifiedMatching OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:LRSAM1 semapv:UnspecifiedMatching OMIM:610933 LRSAM1 skos:exactMatch ncbigene:90678 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:NOBOX semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch UMLS:C1826445 semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:NOBOX semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch ncbigene:135935 semapv:UnspecifiedMatching -OMIM:610935 ZACN skos:exactMatch ncbigene:353174 semapv:UnspecifiedMatching OMIM:610935 ZACN skos:exactMatch hgnc.symbol:ZACN semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch UMLS:C1426033 semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch ncbigene:353174 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch ncbigene:29968 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:PSAT1 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch UMLS:C4015019 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:PSAT1 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch ncbigene:29968 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch ncbigene:23322 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:RPGRIP1L semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch UMLS:C1426033 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C2242767 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C4017235 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching -OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:MIR192 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:RPGRIP1L semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch ncbigene:23322 semapv:UnspecifiedMatching OMIM:610939 MIR192 skos:exactMatch ncbigene:406967 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:MIR192 semapv:UnspecifiedMatching OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:MIR194-1 semapv:UnspecifiedMatching OMIM:610940 MIR194-1 skos:exactMatch ncbigene:406969 semapv:UnspecifiedMatching OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:MIR194-2 semapv:UnspecifiedMatching OMIM:610941 MIR194-2 skos:exactMatch ncbigene:406970 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch ncbigene:406987 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:MIR204 semapv:UnspecifiedMatching OMIM:610942 MIR204 skos:exactMatch UMLS:C1537842 semapv:UnspecifiedMatching OMIM:610942 MIR204 skos:exactMatch UMLS:C4225493 semapv:UnspecifiedMatching -OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:MIR215 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:MIR204 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch ncbigene:406987 semapv:UnspecifiedMatching OMIM:610943 MIR215 skos:exactMatch ncbigene:406997 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:MIR215 semapv:UnspecifiedMatching OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:MIR216A semapv:UnspecifiedMatching OMIM:610944 MIR216 skos:exactMatch ncbigene:406998 semapv:UnspecifiedMatching -OMIM:610945 MIR296 skos:exactMatch ncbigene:407022 semapv:UnspecifiedMatching OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:MIR296 semapv:UnspecifiedMatching -OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch ncbigene:407022 semapv:UnspecifiedMatching OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:MIR133B semapv:UnspecifiedMatching -OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching OMIM:610949 SYT14 skos:exactMatch ncbigene:255928 semapv:UnspecifiedMatching -OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:SYT16 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching OMIM:610950 SYT16 skos:exactMatch ncbigene:83851 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:SYT16 semapv:UnspecifiedMatching OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching @@ -29697,119 +29701,119 @@ OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:CRNKL1 semapv:UnspecifiedMatching OMIM:610952 CRNKL1 skos:exactMatch ncbigene:51340 semapv:UnspecifiedMatching OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:PIF1 semapv:UnspecifiedMatching OMIM:610953 PIF1 skos:exactMatch ncbigene:80119 semapv:UnspecifiedMatching -OMIM:610954 pitt-hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching OMIM:610954 pitt-hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching -OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:TRAPPC3 semapv:UnspecifiedMatching +OMIM:610954 pitt-hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching OMIM:610955 TRAPPC3 skos:exactMatch ncbigene:27095 semapv:UnspecifiedMatching -OMIM:610956 DARS2 skos:exactMatch ncbigene:55157 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:TRAPPC3 semapv:UnspecifiedMatching OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:DARS2 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch ncbigene:51067 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch ncbigene:55157 semapv:UnspecifiedMatching OMIM:610957 YARS2 skos:exactMatch UMLS:C1823881 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:YARS2 semapv:UnspecifiedMatching -OMIM:610958 AGPAT9 skos:exactMatch ncbigene:84803 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch ncbigene:51067 semapv:UnspecifiedMatching OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:GPAT3 semapv:UnspecifiedMatching -OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:MIR376A1 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch ncbigene:84803 semapv:UnspecifiedMatching OMIM:610959 MIR376A1 skos:exactMatch ncbigene:494325 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:MIR376A1 semapv:UnspecifiedMatching OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:MIR376A2 semapv:UnspecifiedMatching OMIM:610960 MIR376A2 skos:exactMatch ncbigene:664615 semapv:UnspecifiedMatching OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:MIR376B semapv:UnspecifiedMatching OMIM:610961 MIR376B skos:exactMatch ncbigene:574435 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch UMLS:C1822788 semapv:UnspecifiedMatching OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:SMG5 semapv:UnspecifiedMatching OMIM:610962 SMG5 skos:exactMatch ncbigene:23381 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch UMLS:C1822788 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch ncbigene:23293 semapv:UnspecifiedMatching OMIM:610963 SMG6 skos:exactMatch UMLS:C1822789 semapv:UnspecifiedMatching OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:SMG6 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch ncbigene:23293 semapv:UnspecifiedMatching OMIM:610964 SMG7 skos:exactMatch UMLS:C1822790 semapv:UnspecifiedMatching OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:SMG7 semapv:UnspecifiedMatching OMIM:610964 SMG7 skos:exactMatch ncbigene:9887 semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch ncbigene:79068 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch UMLS:C4225492 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch hgnc.symbol:FTO semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch UMLS:C1970415 semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch UMLS:C2752001 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch UMLS:C4225492 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch hgnc.symbol:FTO semapv:UnspecifiedMatching OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:TRAPPC1 semapv:UnspecifiedMatching OMIM:610969 TRAPPC1 skos:exactMatch ncbigene:58485 semapv:UnspecifiedMatching OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:TRAPPC2L semapv:UnspecifiedMatching OMIM:610970 TRAPPC2L skos:exactMatch ncbigene:51693 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch ncbigene:51399 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:TRAPPC4 semapv:UnspecifiedMatching OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C1426551 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching -OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:AJAP1 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch ncbigene:51399 semapv:UnspecifiedMatching OMIM:610972 AJAP1 skos:exactMatch ncbigene:55966 semapv:UnspecifiedMatching -OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:MPP7 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:AJAP1 semapv:UnspecifiedMatching OMIM:610973 MPP7 skos:exactMatch ncbigene:143098 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:MPP7 semapv:UnspecifiedMatching OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:ZNF521 semapv:UnspecifiedMatching OMIM:610974 ZNF521 skos:exactMatch ncbigene:25925 semapv:UnspecifiedMatching OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:SEBOX semapv:UnspecifiedMatching OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch ncbigene:645832 semapv:UnspecifiedMatching OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:APOBEC3H semapv:UnspecifiedMatching OMIM:610976 APOBEC3H skos:exactMatch ncbigene:164668 semapv:UnspecifiedMatching -OMIM:610977 tetracycline transporter-like protein skos:exactMatch ncbigene:10227 semapv:UnspecifiedMatching OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:MFSD10 semapv:UnspecifiedMatching -OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:PPIP5K1 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch ncbigene:10227 semapv:UnspecifiedMatching OMIM:610979 PPIP5K1 skos:exactMatch ncbigene:9677 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:PPIP5K1 semapv:UnspecifiedMatching OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:KCNQ1DN semapv:UnspecifiedMatching OMIM:610980 KCNQ1DN skos:exactMatch ncbigene:55539 semapv:UnspecifiedMatching OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:WBP2NL semapv:UnspecifiedMatching OMIM:610981 WBP2NL skos:exactMatch ncbigene:164684 semapv:UnspecifiedMatching OMIM:610982 INF2 skos:exactMatch hgnc.symbol:INF2 semapv:UnspecifiedMatching OMIM:610982 INF2 skos:exactMatch ncbigene:64423 semapv:UnspecifiedMatching -OMIM:610983 MIR376C skos:exactMatch ncbigene:442913 semapv:UnspecifiedMatching OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:MIR376C semapv:UnspecifiedMatching -OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:UEVLD semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch ncbigene:442913 semapv:UnspecifiedMatching OMIM:610985 UEVLD skos:exactMatch ncbigene:55293 semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:UEVLD semapv:UnspecifiedMatching OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:LRRK1 semapv:UnspecifiedMatching OMIM:610986 LRRK1 skos:exactMatch ncbigene:79705 semapv:UnspecifiedMatching OMIM:610987 ASAH2B skos:exactMatch UMLS:C1540202 semapv:UnspecifiedMatching OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:ASAH2B semapv:UnspecifiedMatching OMIM:610987 ASAH2B skos:exactMatch ncbigene:653308 semapv:UnspecifiedMatching -OMIM:610989 LMTK2 skos:exactMatch ncbigene:22853 semapv:UnspecifiedMatching OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:LMTK2 semapv:UnspecifiedMatching -OMIM:610990 PPP1R18 skos:exactMatch ncbigene:170954 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch ncbigene:22853 semapv:UnspecifiedMatching OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:PPP1R18 semapv:UnspecifiedMatching -OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:OBSL1 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch ncbigene:170954 semapv:UnspecifiedMatching OMIM:610991 OBSL1 skos:exactMatch ncbigene:23363 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:OBSL1 semapv:UnspecifiedMatching OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching OMIM:610993 USP44 skos:exactMatch hgnc.symbol:USP44 semapv:UnspecifiedMatching OMIM:610993 USP44 skos:exactMatch ncbigene:84101 semapv:UnspecifiedMatching OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:PEDS1 semapv:UnspecifiedMatching OMIM:610994 TMEM189 skos:exactMatch ncbigene:387521 semapv:UnspecifiedMatching -OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:PCYOX1 semapv:UnspecifiedMatching OMIM:610995 PCYOX1 skos:exactMatch ncbigene:51449 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:PCYOX1 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch ncbigene:92675 semapv:UnspecifiedMatching OMIM:610996 DTD1 skos:exactMatch UMLS:C1970251 semapv:UnspecifiedMatching OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:DTD1 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch ncbigene:92675 semapv:UnspecifiedMatching OMIM:610998 METRN skos:exactMatch hgnc.symbol:METRN semapv:UnspecifiedMatching OMIM:610998 METRN skos:exactMatch ncbigene:79006 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch UMLS:C1426501 semapv:UnspecifiedMatching OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:EPC1 semapv:UnspecifiedMatching OMIM:610999 EPC1 skos:exactMatch ncbigene:80314 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch UMLS:C1426501 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch ncbigene:26122 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:EPC2 semapv:UnspecifiedMatching OMIM:611000 EPC2 skos:exactMatch UMLS:C1539360 semapv:UnspecifiedMatching -OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:MEAF6 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:EPC2 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch ncbigene:26122 semapv:UnspecifiedMatching OMIM:611001 MEAF6 skos:exactMatch ncbigene:64769 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:MEAF6 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:TMEM204 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch ncbigene:79652 semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:MEX3C semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch ncbigene:51320 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch ncbigene:81689 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:ISCA1 semapv:UnspecifiedMatching OMIM:611006 ISCA1 skos:exactMatch UMLS:C1428729 semapv:UnspecifiedMatching OMIM:611006 ISCA1 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch ncbigene:81689 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:ISCA1 semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch ncbigene:92312 semapv:UnspecifiedMatching OMIM:611007 MEX3A skos:exactMatch UMLS:C1970246 semapv:UnspecifiedMatching OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:MEX3A semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch ncbigene:92312 semapv:UnspecifiedMatching OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:MEX3B semapv:UnspecifiedMatching OMIM:611008 MEX3B skos:exactMatch ncbigene:84206 semapv:UnspecifiedMatching -OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:MEX3D semapv:UnspecifiedMatching -OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:TMEM259 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:RGSL1 semapv:UnspecifiedMatching OMIM:611012 RGSL1 skos:exactMatch ncbigene:353299 semapv:UnspecifiedMatching OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:TYSND1 semapv:UnspecifiedMatching @@ -29820,63 +29824,63 @@ OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:ATP6V0E2 semapv:UnspecifiedMatc OMIM:611019 ATP6V0E2 skos:exactMatch ncbigene:155066 semapv:UnspecifiedMatching OMIM:611020 MIR21 skos:exactMatch ncbigene:406991 semapv:UnspecifiedMatching OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:MIR21 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch UMLS:C1538068 semapv:UnspecifiedMatching OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:NMD3 semapv:UnspecifiedMatching OMIM:611021 NMD3 skos:exactMatch ncbigene:51068 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch UMLS:C1538068 semapv:UnspecifiedMatching OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:TRMT5 semapv:UnspecifiedMatching OMIM:611023 TRMT5 skos:exactMatch ncbigene:57570 semapv:UnspecifiedMatching OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:ZNF667 semapv:UnspecifiedMatching OMIM:611024 ZNF667 skos:exactMatch ncbigene:63934 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch ncbigene:219670 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:ENKUR semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611025 ENKUR skos:exactMatch UMLS:C1428701 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:ENKUR semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch ncbigene:219670 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch ncbigene:79152 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch hgnc.symbol:FA2H semapv:UnspecifiedMatching OMIM:611026 FA2H skos:exactMatch UMLS:C1427405 semapv:UnspecifiedMatching OMIM:611026 FA2H skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch hgnc.symbol:FA2H semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch ncbigene:79152 semapv:UnspecifiedMatching OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:SHCBP1 semapv:UnspecifiedMatching OMIM:611027 SHCBP1 skos:exactMatch ncbigene:79801 semapv:UnspecifiedMatching OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:TMEM30A semapv:UnspecifiedMatching OMIM:611028 TMEM30A skos:exactMatch ncbigene:55754 semapv:UnspecifiedMatching -OMIM:611029 TMEM30B skos:exactMatch ncbigene:161291 semapv:UnspecifiedMatching OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:TMEM30B semapv:UnspecifiedMatching -OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch ncbigene:161291 semapv:UnspecifiedMatching OMIM:611030 TMEM30C skos:exactMatch ncbigene:644444 semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:SPATA17 semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch ncbigene:128153 semapv:UnspecifiedMatching OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:C11orf21 semapv:UnspecifiedMatching OMIM:611033 C11ORF21 skos:exactMatch ncbigene:29125 semapv:UnspecifiedMatching OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:SLC17A3 semapv:UnspecifiedMatching OMIM:611034 SLC17A3 skos:exactMatch ncbigene:10786 semapv:UnspecifiedMatching -OMIM:611035 APLF skos:exactMatch ncbigene:200558 semapv:UnspecifiedMatching OMIM:611035 APLF skos:exactMatch hgnc.symbol:APLF semapv:UnspecifiedMatching -OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:SLC2A13 semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch ncbigene:200558 semapv:UnspecifiedMatching OMIM:611036 SLC2A13 skos:exactMatch ncbigene:114134 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:SLC2A13 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch UMLS:C1427063 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch UMLS:C4225206 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:SLC25A26 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch ncbigene:115286 semapv:UnspecifiedMatching OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:SLC2A14 semapv:UnspecifiedMatching OMIM:611039 SLC2A14 skos:exactMatch ncbigene:144195 semapv:UnspecifiedMatching -OMIM:611041 TRIM47 skos:exactMatch ncbigene:91107 semapv:UnspecifiedMatching OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:TRIM47 semapv:UnspecifiedMatching -OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:LELP1 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch ncbigene:91107 semapv:UnspecifiedMatching OMIM:611042 LELP1 skos:exactMatch ncbigene:149018 semapv:UnspecifiedMatching -OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:LIN28A semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:LELP1 semapv:UnspecifiedMatching OMIM:611043 LIN28A skos:exactMatch ncbigene:79727 semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:LIN28A semapv:UnspecifiedMatching OMIM:611044 LIN28B skos:exactMatch UMLS:C1825819 semapv:UnspecifiedMatching OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:LIN28B semapv:UnspecifiedMatching OMIM:611044 LIN28B skos:exactMatch ncbigene:389421 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch UMLS:C1428419 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching -OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:RAET1L semapv:UnspecifiedMatching -OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:PPP1R15A semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching OMIM:611048 PPP1R15A skos:exactMatch ncbigene:23645 semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:PPP1R15A semapv:UnspecifiedMatching OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:SLC17A2 semapv:UnspecifiedMatching OMIM:611049 SLC17A2 skos:exactMatch ncbigene:10246 semapv:UnspecifiedMatching OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:LUZP6 semapv:UnspecifiedMatching @@ -29886,121 +29890,121 @@ OMIM:611051 CCDC50 skos:exactMatch ncbigene:152137 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch ncbigene:9739 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:SETD1A semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch UMLS:C5394583 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C1822684 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch UMLS:C5394583 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C5394584 semapv:UnspecifiedMatching OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:RUSC2 semapv:UnspecifiedMatching OMIM:611053 RUSC2 skos:exactMatch ncbigene:9853 semapv:UnspecifiedMatching OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:PPFIA1 semapv:UnspecifiedMatching OMIM:611054 PPFIA1 skos:exactMatch ncbigene:8500 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch ncbigene:23067 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:SETD1B semapv:UnspecifiedMatching OMIM:611055 SETD1B skos:exactMatch UMLS:C1822685 semapv:UnspecifiedMatching OMIM:611055 SETD1B skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:SETD1B semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch ncbigene:23067 semapv:UnspecifiedMatching OMIM:611056 SCLY skos:exactMatch hgnc.symbol:SCLY semapv:UnspecifiedMatching OMIM:611056 SCLY skos:exactMatch ncbigene:51540 semapv:UnspecifiedMatching OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:PEX5L semapv:UnspecifiedMatching OMIM:611058 PEX5L skos:exactMatch ncbigene:51555 semapv:UnspecifiedMatching OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:WDR82 semapv:UnspecifiedMatching OMIM:611059 WDR82 skos:exactMatch ncbigene:80335 semapv:UnspecifiedMatching -OMIM:611060 SETBP1 skos:exactMatch ncbigene:26040 semapv:UnspecifiedMatching OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:SETBP1 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch ncbigene:26040 semapv:UnspecifiedMatching OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:FAM20C semapv:UnspecifiedMatching OMIM:611061 FAM20C skos:exactMatch ncbigene:56975 semapv:UnspecifiedMatching -OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:FAM20A semapv:UnspecifiedMatching OMIM:611062 FAM20A skos:exactMatch ncbigene:54757 semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:FAM20A semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch UMLS:C1427852 semapv:UnspecifiedMatching OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:FAM20B semapv:UnspecifiedMatching OMIM:611063 FAM20B skos:exactMatch ncbigene:9917 semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch UMLS:C1427852 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch ncbigene:152926 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:PPM1K semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching OMIM:611065 PPM1K skos:exactMatch UMLS:C1538710 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:PPM1K semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch ncbigene:152926 semapv:UnspecifiedMatching OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:PHLPP2 semapv:UnspecifiedMatching OMIM:611066 PHLPPL skos:exactMatch ncbigene:23035 semapv:UnspecifiedMatching -OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:SNORD43 semapv:UnspecifiedMatching OMIM:611068 SNORD43 skos:exactMatch ncbigene:26807 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:SNORD43 semapv:UnspecifiedMatching OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:SNORD139 semapv:UnspecifiedMatching OMIM:611069 rna, u86 small nucleolar skos:exactMatch ncbigene:116936 semapv:UnspecifiedMatching -OMIM:611070 SNORD83A skos:exactMatch ncbigene:116937 semapv:UnspecifiedMatching OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:SNORD83A semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch ncbigene:116937 semapv:UnspecifiedMatching OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:SNORD83B semapv:UnspecifiedMatching OMIM:611071 SNORD83B skos:exactMatch ncbigene:116938 semapv:UnspecifiedMatching OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:DNAJC24 semapv:UnspecifiedMatching OMIM:611072 DNAJC24 skos:exactMatch ncbigene:120526 semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch ncbigene:390259 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch UMLS:C1970208 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch hgnc.symbol:BSX semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch ncbigene:390259 semapv:UnspecifiedMatching OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:DPH5 semapv:UnspecifiedMatching OMIM:611075 DPH5 skos:exactMatch ncbigene:51611 semapv:UnspecifiedMatching -OMIM:611076 NT5DC3 skos:exactMatch ncbigene:51559 semapv:UnspecifiedMatching OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:NT5DC3 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch ncbigene:51559 semapv:UnspecifiedMatching OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:CHCHD4 semapv:UnspecifiedMatching OMIM:611077 CHCHD4 skos:exactMatch ncbigene:131474 semapv:UnspecifiedMatching OMIM:611078 CBWD1 skos:exactMatch hgnc.symbol:ZNG1A semapv:UnspecifiedMatching OMIM:611078 CBWD1 skos:exactMatch ncbigene:55871 semapv:UnspecifiedMatching OMIM:611079 CBWD2 skos:exactMatch hgnc.symbol:ZNG1B semapv:UnspecifiedMatching OMIM:611079 CBWD2 skos:exactMatch ncbigene:150472 semapv:UnspecifiedMatching -OMIM:611080 CBWD3 skos:exactMatch ncbigene:445571 semapv:UnspecifiedMatching OMIM:611080 CBWD3 skos:exactMatch hgnc.symbol:ZNG1C semapv:UnspecifiedMatching +OMIM:611080 CBWD3 skos:exactMatch ncbigene:445571 semapv:UnspecifiedMatching OMIM:611081 inflammatory bowel disease (crohn disease) 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching OMIM:611082 MIAT skos:exactMatch hgnc.symbol:MIAT semapv:UnspecifiedMatching OMIM:611082 MIAT skos:exactMatch ncbigene:440823 semapv:UnspecifiedMatching -OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:ADHFE1 semapv:UnspecifiedMatching OMIM:611083 ADHFE1 skos:exactMatch ncbigene:137872 semapv:UnspecifiedMatching -OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:FOXD4L1 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:ADHFE1 semapv:UnspecifiedMatching OMIM:611084 FOXD4L1 skos:exactMatch ncbigene:200350 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:FOXD4L1 semapv:UnspecifiedMatching OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:FOXD4L4 semapv:UnspecifiedMatching OMIM:611085 FOXD4L4 skos:exactMatch ncbigene:349334 semapv:UnspecifiedMatching -OMIM:611086 FOXD4L3 skos:exactMatch ncbigene:286380 semapv:UnspecifiedMatching OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:FOXD4L3 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch ncbigene:85478 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:CCDC65 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch ncbigene:286380 semapv:UnspecifiedMatching OMIM:611088 CCDC65 skos:exactMatch UMLS:C1824589 semapv:UnspecifiedMatching -OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:MTMR14 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:CCDC65 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch ncbigene:85478 semapv:UnspecifiedMatching OMIM:611089 MTMR14 skos:exactMatch ncbigene:64419 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:MTMR14 semapv:UnspecifiedMatching OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:STEAP4 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch ncbigene:79689 semapv:UnspecifiedMatching -OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:PDIA6 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:PLEKHG5 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch ncbigene:57449 semapv:UnspecifiedMatching -OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:ACAD9 semapv:UnspecifiedMatching OMIM:611103 ACAD9 skos:exactMatch ncbigene:28976 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:ACAD9 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch UMLS:C1426031 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:FGD4 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch ncbigene:121512 semapv:UnspecifiedMatching OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:ZC3H12D semapv:UnspecifiedMatching OMIM:611106 ZC3H12D skos:exactMatch ncbigene:340152 semapv:UnspecifiedMatching -OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:VWC2 semapv:UnspecifiedMatching -OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching OMIM:611110 MAP3K7CL skos:exactMatch ncbigene:56911 semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:DPPA5 semapv:UnspecifiedMatching OMIM:611111 DPPA5 skos:exactMatch ncbigene:340168 semapv:UnspecifiedMatching OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:DACT3 semapv:UnspecifiedMatching OMIM:611112 DACT3 skos:exactMatch ncbigene:147906 semapv:UnspecifiedMatching -OMIM:611113 CEMP1 skos:exactMatch ncbigene:752014 semapv:UnspecifiedMatching OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:CEMP1 semapv:UnspecifiedMatching -OMIM:611114 MIR150 skos:exactMatch ncbigene:406942 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch ncbigene:752014 semapv:UnspecifiedMatching OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:MIR150 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch ncbigene:406942 semapv:UnspecifiedMatching OMIM:611115 VWCE skos:exactMatch hgnc.symbol:VWCE semapv:UnspecifiedMatching OMIM:611115 VWCE skos:exactMatch ncbigene:220001 semapv:UnspecifiedMatching -OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:MIR208A semapv:UnspecifiedMatching OMIM:611116 MIR208A skos:exactMatch ncbigene:406990 semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:MIR208A semapv:UnspecifiedMatching OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:PPME1 semapv:UnspecifiedMatching OMIM:611117 PPME1 skos:exactMatch ncbigene:51400 semapv:UnspecifiedMatching OMIM:611118 NARFL skos:exactMatch hgnc.symbol:CIAO3 semapv:UnspecifiedMatching OMIM:611118 NARFL skos:exactMatch ncbigene:64428 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch ncbigene:55975 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:KLHL7 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch UMLS:C1423635 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch ncbigene:55975 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch UMLS:C1423635 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:SPTLC3 semapv:UnspecifiedMatching OMIM:611120 SPTLC3 skos:exactMatch ncbigene:55304 semapv:UnspecifiedMatching OMIM:611121 CLMN skos:exactMatch hgnc.symbol:CLMN semapv:UnspecifiedMatching @@ -30011,17 +30015,17 @@ OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:EPHA10 semapv:UnspecifiedMatching OMIM:611123 EPHA10 skos:exactMatch ncbigene:284656 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch ncbigene:256471 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:MFSD8 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch UMLS:C1970174 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch UMLS:C4015371 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch UMLS:C1970174 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching OMIM:611125 DSEL skos:exactMatch hgnc.symbol:DSEL semapv:UnspecifiedMatching OMIM:611125 DSEL skos:exactMatch ncbigene:92126 semapv:UnspecifiedMatching OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:UBL4B semapv:UnspecifiedMatching OMIM:611127 UBL4B skos:exactMatch ncbigene:164153 semapv:UnspecifiedMatching -OMIM:611128 MDGA2 skos:exactMatch ncbigene:161357 semapv:UnspecifiedMatching OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:MDGA2 semapv:UnspecifiedMatching -OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:WBP1L semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch ncbigene:161357 semapv:UnspecifiedMatching OMIM:611129 WBP1L skos:exactMatch ncbigene:54838 semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:WBP1L semapv:UnspecifiedMatching OMIM:611130 CHMP7 skos:exactMatch UMLS:C1538462 semapv:UnspecifiedMatching OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:CHMP7 semapv:UnspecifiedMatching OMIM:611130 CHMP7 skos:exactMatch ncbigene:91782 semapv:UnspecifiedMatching @@ -30029,100 +30033,100 @@ OMIM:611132 RBKS skos:exactMatch hgnc.symbol:RBKS semapv:UnspecifiedMatching OMIM:611132 RBKS skos:exactMatch ncbigene:64080 semapv:UnspecifiedMatching OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:SNORD82 semapv:UnspecifiedMatching OMIM:611133 SNORD82 skos:exactMatch ncbigene:25826 semapv:UnspecifiedMatching -OMIM:611135 KLB skos:exactMatch hgnc.symbol:KLB semapv:UnspecifiedMatching OMIM:611135 KLB skos:exactMatch ncbigene:152831 semapv:UnspecifiedMatching -OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:PSMB11 semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch hgnc.symbol:KLB semapv:UnspecifiedMatching OMIM:611137 PSMB11 skos:exactMatch ncbigene:122706 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:PSMB11 semapv:UnspecifiedMatching OMIM:611138 STRBP skos:exactMatch hgnc.symbol:STRBP semapv:UnspecifiedMatching OMIM:611138 STRBP skos:exactMatch ncbigene:55342 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:TELO2 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch ncbigene:9894 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch ncbigene:142678 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:MIB2 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611141 MIB2 skos:exactMatch UMLS:C1537693 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:MIB2 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch ncbigene:142678 semapv:UnspecifiedMatching OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:CKAP5 semapv:UnspecifiedMatching OMIM:611142 CKAP5 skos:exactMatch ncbigene:9793 semapv:UnspecifiedMatching -OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:ABRAXAS1 semapv:UnspecifiedMatching OMIM:611143 ABRAXAS1 skos:exactMatch ncbigene:84142 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:ABRAXAS1 semapv:UnspecifiedMatching OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:ABRAXAS2 semapv:UnspecifiedMatching OMIM:611144 ABRAXAS2 skos:exactMatch ncbigene:23172 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch ncbigene:169026 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch UMLS:C4017238 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:SLC30A8 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch UMLS:C1426844 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch UMLS:C4017238 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:SLC30A8 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch ncbigene:169026 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch UMLS:C1822757 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:SLC30A6 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch ncbigene:55676 semapv:UnspecifiedMatching -OMIM:611149 SLC30A7 skos:exactMatch ncbigene:148867 semapv:UnspecifiedMatching OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:SLC30A7 semapv:UnspecifiedMatching -OMIM:611150 ATXN10 skos:exactMatch ncbigene:25814 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch ncbigene:148867 semapv:UnspecifiedMatching OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:ATXN10 semapv:UnspecifiedMatching -OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch ncbigene:25814 semapv:UnspecifiedMatching OMIM:611151 TRMT2A skos:exactMatch ncbigene:27037 semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch hgnc.symbol:XPA semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch ncbigene:7507 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:ERMP1 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch ncbigene:79956 semapv:UnspecifiedMatching OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:MRGBP semapv:UnspecifiedMatching OMIM:611157 MRGBP skos:exactMatch ncbigene:55257 semapv:UnspecifiedMatching -OMIM:611158 KRT77 skos:exactMatch ncbigene:374454 semapv:UnspecifiedMatching OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:KRT77 semapv:UnspecifiedMatching -OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:KRT78 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch ncbigene:374454 semapv:UnspecifiedMatching OMIM:611159 KRT78 skos:exactMatch ncbigene:196374 semapv:UnspecifiedMatching -OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:KRT79 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:KRT78 semapv:UnspecifiedMatching OMIM:611160 KRT79 skos:exactMatch ncbigene:338785 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:KRT79 semapv:UnspecifiedMatching OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:KRT80 semapv:UnspecifiedMatching OMIM:611161 KRT80 skos:exactMatch ncbigene:144501 semapv:UnspecifiedMatching -OMIM:611162 malaria, susceptibility to skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching OMIM:611162 malaria, susceptibility to skos:exactMatch UMLS:C1970028 semapv:UnspecifiedMatching -OMIM:611163 TOX2 skos:exactMatch ncbigene:84969 semapv:UnspecifiedMatching +OMIM:611162 malaria, susceptibility to skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:TOX2 semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch UMLS:C1824195 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch ncbigene:84969 semapv:UnspecifiedMatching OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:ARGFX semapv:UnspecifiedMatching OMIM:611164 ARGFX skos:exactMatch ncbigene:503582 semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch UMLS:C1824195 semapv:UnspecifiedMatching OMIM:611165 DPRX skos:exactMatch UMLS:C1824964 semapv:UnspecifiedMatching OMIM:611165 DPRX skos:exactMatch hgnc.symbol:DPRX semapv:UnspecifiedMatching OMIM:611165 DPRX skos:exactMatch ncbigene:503834 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch UMLS:C1823470 semapv:UnspecifiedMatching OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:TPRX1 semapv:UnspecifiedMatching OMIM:611166 TPRX1 skos:exactMatch ncbigene:284355 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch UMLS:C1823470 semapv:UnspecifiedMatching -OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:TPRXL semapv:UnspecifiedMatching OMIM:611167 TPRXL skos:exactMatch ncbigene:348825 semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch UMLS:C1824994 semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:TPRXL semapv:UnspecifiedMatching OMIM:611168 DUXA skos:exactMatch hgnc.symbol:DUXA semapv:UnspecifiedMatching OMIM:611168 DUXA skos:exactMatch ncbigene:503835 semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch UMLS:C1824994 semapv:UnspecifiedMatching OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:CATSPERB semapv:UnspecifiedMatching OMIM:611169 CATSPERB skos:exactMatch ncbigene:79820 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch ncbigene:219285 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:SAMD9L semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch UMLS:C1826970 semapv:UnspecifiedMatching -OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:SHTN1 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:SAMD9L semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch ncbigene:219285 semapv:UnspecifiedMatching OMIM:611171 SHTN1 skos:exactMatch ncbigene:57698 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:SHTN1 semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch ncbigene:407040 semapv:UnspecifiedMatching OMIM:611172 MIR34A skos:exactMatch UMLS:C1537745 semapv:UnspecifiedMatching OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:MIR34A semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch ncbigene:407040 semapv:UnspecifiedMatching -OMIM:611173 MIR375 skos:exactMatch ncbigene:494324 semapv:UnspecifiedMatching OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:MIR375 semapv:UnspecifiedMatching -OMIM:611175 OLA1 skos:exactMatch ncbigene:29789 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch ncbigene:494324 semapv:UnspecifiedMatching OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:OLA1 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch ncbigene:29789 semapv:UnspecifiedMatching OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:JKAMP semapv:UnspecifiedMatching OMIM:611176 JKAMP skos:exactMatch ncbigene:51528 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch ncbigene:57560 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch UMLS:C4017240 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:IFT80 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch UMLS:C1825570 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch UMLS:C4017239 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch UMLS:C4017240 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch ncbigene:57560 semapv:UnspecifiedMatching -OMIM:611178 GALP skos:exactMatch ncbigene:85569 semapv:UnspecifiedMatching OMIM:611178 GALP skos:exactMatch hgnc.symbol:GALP semapv:UnspecifiedMatching -OMIM:611179 SHROOM1 skos:exactMatch ncbigene:134549 semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch ncbigene:85569 semapv:UnspecifiedMatching OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:SHROOM1 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch ncbigene:134549 semapv:UnspecifiedMatching OMIM:611180 NELFB skos:exactMatch hgnc.symbol:NELFB semapv:UnspecifiedMatching OMIM:611180 NELFB skos:exactMatch ncbigene:25920 semapv:UnspecifiedMatching OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:ACAD10 semapv:UnspecifiedMatching @@ -30132,98 +30136,98 @@ OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch Orpha OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:BRK1 semapv:UnspecifiedMatching OMIM:611183 BRK1 skos:exactMatch ncbigene:55845 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch ncbigene:9780 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4749121 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017241 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C1539428 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017242 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C1539428 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017241 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:MIR9-1 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch ncbigene:407046 semapv:UnspecifiedMatching -OMIM:611187 MIR9-2 skos:exactMatch ncbigene:407047 semapv:UnspecifiedMatching OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:MIR9-2 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch ncbigene:407047 semapv:UnspecifiedMatching OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:MIR9-3 semapv:UnspecifiedMatching OMIM:611188 MIR9-3 skos:exactMatch ncbigene:407051 semapv:UnspecifiedMatching -OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:MIR197 semapv:UnspecifiedMatching OMIM:611189 MIR197 skos:exactMatch ncbigene:406974 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:MIR197 semapv:UnspecifiedMatching OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:MIR346 semapv:UnspecifiedMatching OMIM:611190 MIR346 skos:exactMatch ncbigene:442911 semapv:UnspecifiedMatching -OMIM:611191 MIR125A skos:exactMatch ncbigene:406910 semapv:UnspecifiedMatching OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:MIR125A semapv:UnspecifiedMatching -OMIM:611192 ANKRD11 skos:exactMatch ncbigene:29123 semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch ncbigene:406910 semapv:UnspecifiedMatching OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:ANKRD11 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch ncbigene:29123 semapv:UnspecifiedMatching OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:RRP15 semapv:UnspecifiedMatching OMIM:611193 RRP15 skos:exactMatch ncbigene:51018 semapv:UnspecifiedMatching OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:RUFY3 semapv:UnspecifiedMatching OMIM:611194 RUFY3 skos:exactMatch ncbigene:22902 semapv:UnspecifiedMatching -OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:JAKMIP1 semapv:UnspecifiedMatching OMIM:611195 JAKMIP1 skos:exactMatch ncbigene:152789 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:ZMIZ2 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch UMLS:C1823957 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:JAKMIP1 semapv:UnspecifiedMatching OMIM:611196 ZMIZ2 skos:exactMatch ncbigene:83637 semapv:UnspecifiedMatching -OMIM:611197 JAKMIP2 skos:exactMatch ncbigene:9832 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch UMLS:C1823957 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:ZMIZ2 semapv:UnspecifiedMatching OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:JAKMIP2 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch ncbigene:9832 semapv:UnspecifiedMatching OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:JAKMIP3 semapv:UnspecifiedMatching OMIM:611198 JAKMIP3 skos:exactMatch ncbigene:282973 semapv:UnspecifiedMatching OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:DNTTIP2 semapv:UnspecifiedMatching OMIM:611199 DNTTIP2 skos:exactMatch ncbigene:30836 semapv:UnspecifiedMatching OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:TDRD6 semapv:UnspecifiedMatching OMIM:611200 TDRD6 skos:exactMatch ncbigene:221400 semapv:UnspecifiedMatching -OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:KLHL9 semapv:UnspecifiedMatching OMIM:611201 KLHL9 skos:exactMatch ncbigene:55958 semapv:UnspecifiedMatching -OMIM:611202 ASAH2 skos:exactMatch ncbigene:56624 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:KLHL9 semapv:UnspecifiedMatching OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:ASAH2 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch ncbigene:56624 semapv:UnspecifiedMatching OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:DNAJC5 semapv:UnspecifiedMatching OMIM:611203 DNAJC5 skos:exactMatch ncbigene:80331 semapv:UnspecifiedMatching OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:CCDC88C semapv:UnspecifiedMatching OMIM:611204 CCDC88C skos:exactMatch ncbigene:440193 semapv:UnspecifiedMatching OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:CCDC88B semapv:UnspecifiedMatching OMIM:611205 CCDC88B skos:exactMatch ncbigene:283234 semapv:UnspecifiedMatching -OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:DNAJC9 semapv:UnspecifiedMatching OMIM:611206 DNAJC9 skos:exactMatch ncbigene:23234 semapv:UnspecifiedMatching -OMIM:611207 DNAJC1 skos:exactMatch ncbigene:64215 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:DNAJC9 semapv:UnspecifiedMatching OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:DNAJC1 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch ncbigene:64215 semapv:UnspecifiedMatching OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:HNRNPLL semapv:UnspecifiedMatching OMIM:611208 HNRNPLL skos:exactMatch ncbigene:92906 semapv:UnspecifiedMatching OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch UMLS:C2931011 semapv:UnspecifiedMatching OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching OMIM:611210 PBK skos:exactMatch hgnc.symbol:PBK semapv:UnspecifiedMatching OMIM:611210 PBK skos:exactMatch ncbigene:55872 semapv:UnspecifiedMatching -OMIM:611211 RELT skos:exactMatch hgnc.symbol:RELT semapv:UnspecifiedMatching OMIM:611211 RELT skos:exactMatch ncbigene:84957 semapv:UnspecifiedMatching -OMIM:611212 RELL1 skos:exactMatch ncbigene:768211 semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch hgnc.symbol:RELT semapv:UnspecifiedMatching OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:RELL1 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch ncbigene:768211 semapv:UnspecifiedMatching OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:RELL2 semapv:UnspecifiedMatching OMIM:611213 RELL2 skos:exactMatch ncbigene:285613 semapv:UnspecifiedMatching OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:TSR1 semapv:UnspecifiedMatching OMIM:611214 TSR1 skos:exactMatch ncbigene:55720 semapv:UnspecifiedMatching OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:PWRN1 semapv:UnspecifiedMatching OMIM:611215 PWRN1 skos:exactMatch ncbigene:791114 semapv:UnspecifiedMatching -OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:UBXN4 semapv:UnspecifiedMatching OMIM:611216 UBXN4 skos:exactMatch ncbigene:23190 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:UBXN4 semapv:UnspecifiedMatching OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:PWRN2 semapv:UnspecifiedMatching OMIM:611217 PWRN2 skos:exactMatch ncbigene:791115 semapv:UnspecifiedMatching -OMIM:611218 GSDMA skos:exactMatch ncbigene:284110 semapv:UnspecifiedMatching OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:GSDMA semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch ncbigene:284110 semapv:UnspecifiedMatching OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:UNC45A semapv:UnspecifiedMatching OMIM:611219 UNC45A skos:exactMatch ncbigene:55898 semapv:UnspecifiedMatching OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:UNC45B semapv:UnspecifiedMatching OMIM:611220 UNC45B skos:exactMatch ncbigene:146862 semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch ncbigene:55876 semapv:UnspecifiedMatching OMIM:611221 GSDMB skos:exactMatch UMLS:C1428195 semapv:UnspecifiedMatching OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:GSDMB semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch ncbigene:55876 semapv:UnspecifiedMatching -OMIM:611223 AKT3 skos:exactMatch ncbigene:10000 semapv:UnspecifiedMatching OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:AKT3 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch ncbigene:10000 semapv:UnspecifiedMatching OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:SUCLG1 semapv:UnspecifiedMatching OMIM:611224 SUCLG1 skos:exactMatch ncbigene:8802 semapv:UnspecifiedMatching OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:ARMC3 semapv:UnspecifiedMatching OMIM:611226 ARMC3 skos:exactMatch ncbigene:219681 semapv:UnspecifiedMatching -OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching OMIM:611227 HVCN1 skos:exactMatch ncbigene:84329 semapv:UnspecifiedMatching -OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:ERLEC1 semapv:UnspecifiedMatching -OMIM:611230 NCAPH2 skos:exactMatch ncbigene:29781 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:NCAPH2 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch ncbigene:29781 semapv:UnspecifiedMatching OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:CLDN8 semapv:UnspecifiedMatching OMIM:611231 CLDN8 skos:exactMatch ncbigene:9073 semapv:UnspecifiedMatching OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:CLDN12 semapv:UnspecifiedMatching @@ -30232,255 +30236,255 @@ OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:CDNF semapv:UnspecifiedMatching OMIM:611233 ARMETL1 skos:exactMatch ncbigene:441549 semapv:UnspecifiedMatching OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:LRATD1 semapv:UnspecifiedMatching OMIM:611234 FAM84A skos:exactMatch ncbigene:151354 semapv:UnspecifiedMatching -OMIM:611235 TMEM38A skos:exactMatch ncbigene:79041 semapv:UnspecifiedMatching OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:TMEM38A semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch ncbigene:79041 semapv:UnspecifiedMatching OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:TMEM38B semapv:UnspecifiedMatching OMIM:611236 TMEM38B skos:exactMatch ncbigene:55151 semapv:UnspecifiedMatching OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:BTBD9 semapv:UnspecifiedMatching OMIM:611237 BTBD9 skos:exactMatch ncbigene:114781 semapv:UnspecifiedMatching -OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:CHCHD7 semapv:UnspecifiedMatching OMIM:611238 CHCHD7 skos:exactMatch ncbigene:79145 semapv:UnspecifiedMatching -OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:GPRIN1 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:CHCHD7 semapv:UnspecifiedMatching OMIM:611239 GPRIN1 skos:exactMatch ncbigene:114787 semapv:UnspecifiedMatching -OMIM:611240 GPRIN2 skos:exactMatch ncbigene:9721 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:GPRIN1 semapv:UnspecifiedMatching OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:GPRIN2 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch ncbigene:9721 semapv:UnspecifiedMatching OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:GPRIN3 semapv:UnspecifiedMatching OMIM:611241 GPRIN3 skos:exactMatch ncbigene:285513 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:TYW1 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch ncbigene:55253 semapv:UnspecifiedMatching OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:TRMT12 semapv:UnspecifiedMatching OMIM:611244 TRMT12 skos:exactMatch ncbigene:55039 semapv:UnspecifiedMatching -OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:TYW3 semapv:UnspecifiedMatching OMIM:611245 TYW3 skos:exactMatch ncbigene:127253 semapv:UnspecifiedMatching -OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:TYW3 semapv:UnspecifiedMatching OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:LCMT2 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:KLHDC3 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch ncbigene:116138 semapv:UnspecifiedMatching OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:MIRLET7B semapv:UnspecifiedMatching OMIM:611249 MIRLET7B skos:exactMatch ncbigene:406884 semapv:UnspecifiedMatching -OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:MIRLET7E semapv:UnspecifiedMatching OMIM:611250 MIRLET7E skos:exactMatch ncbigene:406887 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch UMLS:C1826733 semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:MIRLET7E semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:DISP3 semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch ncbigene:57540 semapv:UnspecifiedMatching -OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch UMLS:C1826733 semapv:UnspecifiedMatching OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:KIF27 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:KIF7 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch ncbigene:374654 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C3280899 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C3277723 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C3279899 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch ncbigene:374654 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C1537482 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C3277723 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:NOXA1 semapv:UnspecifiedMatching OMIM:611255 NOXA1 skos:exactMatch ncbigene:10811 semapv:UnspecifiedMatching OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:NOXO1 semapv:UnspecifiedMatching OMIM:611256 NOXO1 skos:exactMatch ncbigene:124056 semapv:UnspecifiedMatching OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:TMEM132D semapv:UnspecifiedMatching OMIM:611257 TMEM132D skos:exactMatch ncbigene:121256 semapv:UnspecifiedMatching -OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:TDRD7 semapv:UnspecifiedMatching OMIM:611258 TDRD7 skos:exactMatch ncbigene:23424 semapv:UnspecifiedMatching -OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:CDKAL1 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:TDRD7 semapv:UnspecifiedMatching OMIM:611259 CDKAL1 skos:exactMatch ncbigene:54901 semapv:UnspecifiedMatching -OMIM:611260 THNSL1 skos:exactMatch ncbigene:79896 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:CDKAL1 semapv:UnspecifiedMatching OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:THNSL1 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch ncbigene:79896 semapv:UnspecifiedMatching OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:THNSL2 semapv:UnspecifiedMatching OMIM:611261 THNSL2 skos:exactMatch ncbigene:55258 semapv:UnspecifiedMatching OMIM:611262 DOHH skos:exactMatch hgnc.symbol:DOHH semapv:UnspecifiedMatching OMIM:611262 DOHH skos:exactMatch ncbigene:83475 semapv:UnspecifiedMatching OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching -OMIM:611264 CENPW skos:exactMatch hgnc.symbol:CENPW semapv:UnspecifiedMatching OMIM:611264 CENPW skos:exactMatch ncbigene:387103 semapv:UnspecifiedMatching -OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch ncbigene:85441 semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch hgnc.symbol:CENPW semapv:UnspecifiedMatching OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:HELZ2 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch ncbigene:85441 semapv:UnspecifiedMatching OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:POTEKP semapv:UnspecifiedMatching OMIM:611266 POTEKP skos:exactMatch ncbigene:440915 semapv:UnspecifiedMatching OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:OR51E1 semapv:UnspecifiedMatching OMIM:611267 OR51E1 skos:exactMatch ncbigene:143503 semapv:UnspecifiedMatching OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:OR51E2 semapv:UnspecifiedMatching OMIM:611268 OR51E2 skos:exactMatch ncbigene:81285 semapv:UnspecifiedMatching -OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:NOM1 semapv:UnspecifiedMatching OMIM:611269 NOM1 skos:exactMatch ncbigene:64434 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch ncbigene:63908 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch hgnc.symbol:NAPB semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:NOM1 semapv:UnspecifiedMatching OMIM:611270 NAPB skos:exactMatch UMLS:C1423703 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch hgnc.symbol:NAPB semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch ncbigene:63908 semapv:UnspecifiedMatching OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:KIF18A semapv:UnspecifiedMatching OMIM:611271 KIF18A skos:exactMatch ncbigene:81930 semapv:UnspecifiedMatching -OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:ZKSCAN5 semapv:UnspecifiedMatching OMIM:611272 ZKSCAN5 skos:exactMatch ncbigene:23660 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch UMLS:C1825797 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:ZKSCAN5 semapv:UnspecifiedMatching OMIM:611273 SKOR1 skos:exactMatch ncbigene:390598 semapv:UnspecifiedMatching -OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch UMLS:C1825797 semapv:UnspecifiedMatching OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:BNIPL semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:KIF12 semapv:UnspecifiedMatching OMIM:611278 KIF12 skos:exactMatch ncbigene:113220 semapv:UnspecifiedMatching OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:KIF14 semapv:UnspecifiedMatching OMIM:611279 KIF14 skos:exactMatch ncbigene:9928 semapv:UnspecifiedMatching -OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:KLHDC2 semapv:UnspecifiedMatching OMIM:611280 KLHDC2 skos:exactMatch ncbigene:23588 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:KLHDC2 semapv:UnspecifiedMatching OMIM:611281 KLHDC1 skos:exactMatch ncbigene:122773 semapv:UnspecifiedMatching OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:KLHDC1 semapv:UnspecifiedMatching -OMIM:611282 DNMBP skos:exactMatch ncbigene:23268 semapv:UnspecifiedMatching OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:DNMBP semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch ncbigene:23268 semapv:UnspecifiedMatching OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:KCTD5 semapv:UnspecifiedMatching OMIM:611285 KCTD5 skos:exactMatch ncbigene:54442 semapv:UnspecifiedMatching OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:RTCA semapv:UnspecifiedMatching OMIM:611286 RTCD1 skos:exactMatch ncbigene:8634 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch UMLS:C1426240 semapv:UnspecifiedMatching OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:CNIH1 semapv:UnspecifiedMatching OMIM:611287 CNIH1 skos:exactMatch ncbigene:10175 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch ncbigene:254263 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:CNIH2 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch UMLS:C1426240 semapv:UnspecifiedMatching OMIM:611288 CNIH2 skos:exactMatch UMLS:C1539112 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:CNIH2 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch ncbigene:254263 semapv:UnspecifiedMatching OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:LRG1 semapv:UnspecifiedMatching OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching -OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:CCDC86 semapv:UnspecifiedMatching OMIM:611293 CCDC86 skos:exactMatch ncbigene:79080 semapv:UnspecifiedMatching -OMIM:611294 ONECUT3 skos:exactMatch ncbigene:390874 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:CCDC86 semapv:UnspecifiedMatching OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:ONECUT3 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch ncbigene:390874 semapv:UnspecifiedMatching OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:KLHL24 semapv:UnspecifiedMatching OMIM:611295 KLHL24 skos:exactMatch ncbigene:54800 semapv:UnspecifiedMatching OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:ANXA2R semapv:UnspecifiedMatching OMIM:611296 ANXA2R skos:exactMatch ncbigene:389289 semapv:UnspecifiedMatching -OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:OSR2 semapv:UnspecifiedMatching OMIM:611297 OSR2 skos:exactMatch ncbigene:116039 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:OSR2 semapv:UnspecifiedMatching OMIM:611298 ELAPOR1 skos:exactMatch ncbigene:57535 semapv:UnspecifiedMatching OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:ELAPOR1 semapv:UnspecifiedMatching -OMIM:611299 G2E3 skos:exactMatch ncbigene:55632 semapv:UnspecifiedMatching OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:G2E3 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch ncbigene:55632 semapv:UnspecifiedMatching OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:LARP6 semapv:UnspecifiedMatching OMIM:611300 LARP6 skos:exactMatch ncbigene:55323 semapv:UnspecifiedMatching OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:FAAP100 semapv:UnspecifiedMatching OMIM:611301 FAAP100 skos:exactMatch ncbigene:80233 semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch UMLS:C1825657 semapv:UnspecifiedMatching OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:CLEC16A semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch UMLS:C1825657 semapv:UnspecifiedMatching OMIM:611303 CLEC16A skos:exactMatch ncbigene:23274 semapv:UnspecifiedMatching -OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:LDAF1 semapv:UnspecifiedMatching OMIM:611304 TMEM159 skos:exactMatch ncbigene:57146 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:LDAF1 semapv:UnspecifiedMatching OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:ABLIM3 semapv:UnspecifiedMatching OMIM:611305 ABLIM3 skos:exactMatch ncbigene:22885 semapv:UnspecifiedMatching -OMIM:611306 SCARA5 skos:exactMatch ncbigene:286133 semapv:UnspecifiedMatching OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:SCARA5 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch ncbigene:286133 semapv:UnspecifiedMatching OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching OMIM:611309 DEPP1 skos:exactMatch UMLS:C1428046 semapv:UnspecifiedMatching OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:DEPP1 semapv:UnspecifiedMatching OMIM:611309 DEPP1 skos:exactMatch ncbigene:11067 semapv:UnspecifiedMatching -OMIM:611310 PSTK skos:exactMatch hgnc.symbol:PSTK semapv:UnspecifiedMatching OMIM:611310 PSTK skos:exactMatch ncbigene:118672 semapv:UnspecifiedMatching -OMIM:611312 CRNN skos:exactMatch ncbigene:49860 semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch hgnc.symbol:PSTK semapv:UnspecifiedMatching OMIM:611312 CRNN skos:exactMatch hgnc.symbol:CRNN semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch ncbigene:49860 semapv:UnspecifiedMatching OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:ARMS2 semapv:UnspecifiedMatching OMIM:611313 ARMS2 skos:exactMatch ncbigene:387715 semapv:UnspecifiedMatching OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:HMGN2P46 semapv:UnspecifiedMatching OMIM:611314 HMGN2P46 skos:exactMatch ncbigene:283651 semapv:UnspecifiedMatching -OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:ZSCAN20 semapv:UnspecifiedMatching OMIM:611315 ZSCAN20 skos:exactMatch ncbigene:7579 semapv:UnspecifiedMatching -OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:SLC12A8 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:ZSCAN20 semapv:UnspecifiedMatching OMIM:611316 SLC12A8 skos:exactMatch ncbigene:84561 semapv:UnspecifiedMatching -OMIM:611317 PIK3R5 skos:exactMatch ncbigene:23533 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:SLC12A8 semapv:UnspecifiedMatching OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:PIK3R5 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch ncbigene:23533 semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch UMLS:C1537678 semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch hgnc.symbol:MED12L semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch ncbigene:116931 semapv:UnspecifiedMatching OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:IFI27L2 semapv:UnspecifiedMatching OMIM:611319 IFI27L2 skos:exactMatch ncbigene:83982 semapv:UnspecifiedMatching -OMIM:611320 IFI27L1 skos:exactMatch ncbigene:122509 semapv:UnspecifiedMatching OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:IFI27L1 semapv:UnspecifiedMatching -OMIM:611321 CLSTN1 skos:exactMatch ncbigene:22883 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch ncbigene:122509 semapv:UnspecifiedMatching OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:CLSTN1 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch ncbigene:22883 semapv:UnspecifiedMatching OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:DNAJA2 semapv:UnspecifiedMatching OMIM:611322 DNAJA2 skos:exactMatch ncbigene:10294 semapv:UnspecifiedMatching OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:CLSTN2 semapv:UnspecifiedMatching OMIM:611323 CLSTN2 skos:exactMatch ncbigene:64084 semapv:UnspecifiedMatching -OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:CLSTN3 semapv:UnspecifiedMatching OMIM:611324 CLSTN3 skos:exactMatch ncbigene:9746 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:CLSTN3 semapv:UnspecifiedMatching OMIM:611325 TBRG4 skos:exactMatch ncbigene:9238 semapv:UnspecifiedMatching OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:TBRG4 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch UMLS:C1539078 semapv:UnspecifiedMatching OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:CCPG1 semapv:UnspecifiedMatching OMIM:611326 CCPG1 skos:exactMatch ncbigene:9236 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch UMLS:C1539078 semapv:UnspecifiedMatching OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:DNAJB4 semapv:UnspecifiedMatching OMIM:611327 DNAJB4 skos:exactMatch ncbigene:11080 semapv:UnspecifiedMatching OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:DNAJB5 semapv:UnspecifiedMatching OMIM:611328 DNAJB5 skos:exactMatch ncbigene:25822 semapv:UnspecifiedMatching -OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:SCARNA18 semapv:UnspecifiedMatching OMIM:611329 SCARNA18 skos:exactMatch ncbigene:677765 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:SCARNA18 semapv:UnspecifiedMatching OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:SNORA12 semapv:UnspecifiedMatching OMIM:611330 SNORA12 skos:exactMatch ncbigene:677800 semapv:UnspecifiedMatching -OMIM:611331 SNORA74B skos:exactMatch ncbigene:677841 semapv:UnspecifiedMatching OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:SNORA74B semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch ncbigene:677841 semapv:UnspecifiedMatching OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:DNAJB6 semapv:UnspecifiedMatching OMIM:611332 DNAJB6 skos:exactMatch ncbigene:10049 semapv:UnspecifiedMatching OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:SNORA3B semapv:UnspecifiedMatching OMIM:611333 SNORA3B skos:exactMatch ncbigene:677826 semapv:UnspecifiedMatching -OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:SNORA81 semapv:UnspecifiedMatching OMIM:611334 SNORA81 skos:exactMatch ncbigene:677847 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:SNORA81 semapv:UnspecifiedMatching OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:SNORA5C semapv:UnspecifiedMatching OMIM:611335 SNORA5C skos:exactMatch ncbigene:677796 semapv:UnspecifiedMatching -OMIM:611336 DNAJB7 skos:exactMatch ncbigene:150353 semapv:UnspecifiedMatching OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:DNAJB7 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch ncbigene:150353 semapv:UnspecifiedMatching OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:DNAJB8 semapv:UnspecifiedMatching OMIM:611337 DNAJB8 skos:exactMatch ncbigene:165721 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch UMLS:C1427125 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:ATG4B semapv:UnspecifiedMatching OMIM:611338 ATG4B skos:exactMatch ncbigene:23192 semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:ATG4B semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch UMLS:C1427125 semapv:UnspecifiedMatching OMIM:611339 ATG4C skos:exactMatch UMLS:C1825495 semapv:UnspecifiedMatching OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:ATG4C semapv:UnspecifiedMatching OMIM:611339 ATG4C skos:exactMatch ncbigene:84938 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch ncbigene:84971 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:ATG4D semapv:UnspecifiedMatching OMIM:611340 ATG4D skos:exactMatch UMLS:C1825496 semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:ATG4D semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch ncbigene:84971 semapv:UnspecifiedMatching OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:DNAJB11 semapv:UnspecifiedMatching OMIM:611341 DNAJB11 skos:exactMatch ncbigene:51726 semapv:UnspecifiedMatching OMIM:611342 C9ORF64 skos:exactMatch hgnc.symbol:QNG1 semapv:UnspecifiedMatching OMIM:611342 C9ORF64 skos:exactMatch ncbigene:84267 semapv:UnspecifiedMatching -OMIM:611343 IDNK skos:exactMatch hgnc.symbol:IDNK semapv:UnspecifiedMatching OMIM:611343 IDNK skos:exactMatch ncbigene:414328 semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch hgnc.symbol:IDNK semapv:UnspecifiedMatching OMIM:611344 RASEF skos:exactMatch hgnc.symbol:RASEF semapv:UnspecifiedMatching OMIM:611344 RASEF skos:exactMatch ncbigene:158158 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch ncbigene:26173 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching OMIM:611345 INTS1 skos:exactMatch UMLS:C1825603 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:INTS1 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch ncbigene:26173 semapv:UnspecifiedMatching OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:INTS2 semapv:UnspecifiedMatching OMIM:611346 INTS2 skos:exactMatch ncbigene:57508 semapv:UnspecifiedMatching -OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:INTS3 semapv:UnspecifiedMatching OMIM:611347 INTS3 skos:exactMatch ncbigene:65123 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:INTS3 semapv:UnspecifiedMatching OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:INTS4 semapv:UnspecifiedMatching OMIM:611348 INTS4 skos:exactMatch ncbigene:92105 semapv:UnspecifiedMatching -OMIM:611349 INTS5 skos:exactMatch ncbigene:80789 semapv:UnspecifiedMatching OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:INTS5 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch ncbigene:80789 semapv:UnspecifiedMatching OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:INTS7 semapv:UnspecifiedMatching OMIM:611350 INTS7 skos:exactMatch ncbigene:25896 semapv:UnspecifiedMatching OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:INTS8 semapv:UnspecifiedMatching OMIM:611351 INTS8 skos:exactMatch ncbigene:55656 semapv:UnspecifiedMatching -OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:INTS9 semapv:UnspecifiedMatching OMIM:611352 INTS9 skos:exactMatch ncbigene:55756 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:INTS9 semapv:UnspecifiedMatching OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:INTS10 semapv:UnspecifiedMatching OMIM:611353 INTS10 skos:exactMatch ncbigene:55174 semapv:UnspecifiedMatching -OMIM:611354 CPSF3L skos:exactMatch ncbigene:54973 semapv:UnspecifiedMatching OMIM:611354 CPSF3L skos:exactMatch hgnc.symbol:INTS11 semapv:UnspecifiedMatching +OMIM:611354 CPSF3L skos:exactMatch ncbigene:54973 semapv:UnspecifiedMatching OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:INTS12 semapv:UnspecifiedMatching OMIM:611355 INTS12 skos:exactMatch ncbigene:57117 semapv:UnspecifiedMatching OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:GKAP1 semapv:UnspecifiedMatching OMIM:611356 GKAP1 skos:exactMatch ncbigene:80318 semapv:UnspecifiedMatching -OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:TENT5A semapv:UnspecifiedMatching OMIM:611357 TENT5A skos:exactMatch ncbigene:55603 semapv:UnspecifiedMatching -OMIM:611358 RNF135 skos:exactMatch ncbigene:84282 semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:TENT5A semapv:UnspecifiedMatching OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:RNF135 semapv:UnspecifiedMatching -OMIM:611359 AMBRA1 skos:exactMatch ncbigene:55626 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch ncbigene:84282 semapv:UnspecifiedMatching OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:AMBRA1 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch ncbigene:55626 semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch UMLS:C1825278 semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch hgnc.symbol:FANCI semapv:UnspecifiedMatching @@ -30489,25 +30493,25 @@ OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:UBA6 semapv:UnspecifiedMatching OMIM:611361 UBA6 skos:exactMatch ncbigene:55236 semapv:UnspecifiedMatching OMIM:611362 UBE2Z skos:exactMatch ncbigene:65264 semapv:UnspecifiedMatching OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:UBE2Z semapv:UnspecifiedMatching -OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:TMEM183BP semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching OMIM:611366 MYG1 skos:exactMatch UMLS:C1425007 semapv:UnspecifiedMatching OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:MYG1 semapv:UnspecifiedMatching OMIM:611366 MYG1 skos:exactMatch ncbigene:60314 semapv:UnspecifiedMatching OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:DNPEP semapv:UnspecifiedMatching OMIM:611367 DNPEP skos:exactMatch ncbigene:23549 semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch UMLS:C1825933 semapv:UnspecifiedMatching OMIM:611368 MAEL skos:exactMatch hgnc.symbol:MAEL semapv:UnspecifiedMatching OMIM:611368 MAEL skos:exactMatch ncbigene:84944 semapv:UnspecifiedMatching -OMIM:611370 FGGY skos:exactMatch ncbigene:55277 semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch UMLS:C1825933 semapv:UnspecifiedMatching OMIM:611370 FGGY skos:exactMatch hgnc.symbol:FGGY semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch ncbigene:55277 semapv:UnspecifiedMatching OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:ZNF653 semapv:UnspecifiedMatching OMIM:611371 ZNF653 skos:exactMatch ncbigene:115950 semapv:UnspecifiedMatching OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:SMAP1 semapv:UnspecifiedMatching OMIM:611372 SMAP1 skos:exactMatch ncbigene:60682 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch ncbigene:116842 semapv:UnspecifiedMatching OMIM:611373 LEAP2 skos:exactMatch UMLS:C1825807 semapv:UnspecifiedMatching OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:LEAP2 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch ncbigene:116842 semapv:UnspecifiedMatching OMIM:611374 MIR34B skos:exactMatch ncbigene:407041 semapv:UnspecifiedMatching OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:MIR34B semapv:UnspecifiedMatching OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:MIR34C semapv:UnspecifiedMatching @@ -30517,65 +30521,65 @@ OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:140908 semapv:Unspec OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:DIP2B semapv:UnspecifiedMatching OMIM:611379 DIP2B skos:exactMatch ncbigene:57609 semapv:UnspecifiedMatching -OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:DIP2C semapv:UnspecifiedMatching -OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching OMIM:611386 ADNP skos:exactMatch ncbigene:23394 semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:CXCL17 semapv:UnspecifiedMatching OMIM:611387 CXCL17 skos:exactMatch ncbigene:284340 semapv:UnspecifiedMatching OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:DNTTIP1 semapv:UnspecifiedMatching OMIM:611388 DNTTIP1 skos:exactMatch ncbigene:116092 semapv:UnspecifiedMatching OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:PRICKLE4 semapv:UnspecifiedMatching OMIM:611389 PRICKLE4 skos:exactMatch ncbigene:29964 semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch ncbigene:84890 semapv:UnspecifiedMatching OMIM:611392 ADO skos:exactMatch hgnc.symbol:ADO semapv:UnspecifiedMatching OMIM:611392 ADO skos:exactMatch UMLS:C1428110 semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch ncbigene:84890 semapv:UnspecifiedMatching OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:FAM110A semapv:UnspecifiedMatching OMIM:611393 FAM110A skos:exactMatch ncbigene:83541 semapv:UnspecifiedMatching -OMIM:611394 FAM110B skos:exactMatch ncbigene:90362 semapv:UnspecifiedMatching OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:FAM110B semapv:UnspecifiedMatching -OMIM:611395 FAM110C skos:exactMatch ncbigene:642273 semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch ncbigene:90362 semapv:UnspecifiedMatching OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:FAM110C semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch ncbigene:642273 semapv:UnspecifiedMatching OMIM:611396 ADIG skos:exactMatch hgnc.symbol:ADIG semapv:UnspecifiedMatching OMIM:611396 ADIG skos:exactMatch ncbigene:149685 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch ncbigene:85461 semapv:UnspecifiedMatching OMIM:611397 TANC1 skos:exactMatch UMLS:C1823226 semapv:UnspecifiedMatching OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:TANC1 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch ncbigene:85461 semapv:UnspecifiedMatching OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:GAS2L2 semapv:UnspecifiedMatching OMIM:611398 GAS2L2 skos:exactMatch ncbigene:246176 semapv:UnspecifiedMatching OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:SCLT1 semapv:UnspecifiedMatching OMIM:611399 SCLT1 skos:exactMatch ncbigene:132320 semapv:UnspecifiedMatching -OMIM:611400 HOTAIR skos:exactMatch ncbigene:100124700 semapv:UnspecifiedMatching OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:HOTAIR semapv:UnspecifiedMatching -OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:C6orf15 semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch ncbigene:100124700 semapv:UnspecifiedMatching OMIM:611401 C6ORF15 skos:exactMatch ncbigene:29113 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:C6orf15 semapv:UnspecifiedMatching OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:DOK6 semapv:UnspecifiedMatching OMIM:611402 DOK6 skos:exactMatch ncbigene:220164 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch UMLS:C1422281 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:LY6G6F semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch ncbigene:259215 semapv:UnspecifiedMatching -OMIM:611405 RCL1 skos:exactMatch ncbigene:10171 semapv:UnspecifiedMatching OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:RCL1 semapv:UnspecifiedMatching -OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:DYNC1LI2 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch ncbigene:10171 semapv:UnspecifiedMatching OMIM:611406 DYNC1LI2 skos:exactMatch ncbigene:1783 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:DYNC1LI2 semapv:UnspecifiedMatching OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:LCA5 semapv:UnspecifiedMatching OMIM:611408 LCA5 skos:exactMatch ncbigene:167691 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch ncbigene:4948 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C1856895 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:OCA2 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C0268497 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C0268497 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C1417925 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C1856895 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:OCA2 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch ncbigene:4948 semapv:UnspecifiedMatching OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:RIPOR2 semapv:UnspecifiedMatching OMIM:611410 RIPOR2 skos:exactMatch ncbigene:9750 semapv:UnspecifiedMatching OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:CAMKK1 semapv:UnspecifiedMatching OMIM:611411 CAMKK1 skos:exactMatch ncbigene:84254 semapv:UnspecifiedMatching -OMIM:611412 NPL skos:exactMatch hgnc.symbol:NPL semapv:UnspecifiedMatching OMIM:611412 NPL skos:exactMatch ncbigene:80896 semapv:UnspecifiedMatching -OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:DLGAP3 semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch hgnc.symbol:NPL semapv:UnspecifiedMatching OMIM:611413 DLGAP3 skos:exactMatch ncbigene:58512 semapv:UnspecifiedMatching -OMIM:611414 CALR3 skos:exactMatch ncbigene:125972 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:DLGAP3 semapv:UnspecifiedMatching OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:CALR3 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch ncbigene:125972 semapv:UnspecifiedMatching OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:POLD3 semapv:UnspecifiedMatching OMIM:611415 POLD3 skos:exactMatch ncbigene:10714 semapv:UnspecifiedMatching OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:TOX3 semapv:UnspecifiedMatching @@ -30612,81 +30616,81 @@ OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:STYK1 semapv:UnspecifiedMatching OMIM:611433 STYK1 skos:exactMatch ncbigene:55359 semapv:UnspecifiedMatching OMIM:611434 CLNK skos:exactMatch hgnc.symbol:CLNK semapv:UnspecifiedMatching OMIM:611434 CLNK skos:exactMatch ncbigene:116449 semapv:UnspecifiedMatching -OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:DOK3 semapv:UnspecifiedMatching OMIM:611435 DOK3 skos:exactMatch ncbigene:79930 semapv:UnspecifiedMatching -OMIM:611436 CA13 skos:exactMatch hgnc.symbol:CA13 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:DOK3 semapv:UnspecifiedMatching OMIM:611436 CA13 skos:exactMatch ncbigene:377677 semapv:UnspecifiedMatching -OMIM:611437 DUSP19 skos:exactMatch ncbigene:142679 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch hgnc.symbol:CA13 semapv:UnspecifiedMatching OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:DUSP19 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch ncbigene:142679 semapv:UnspecifiedMatching OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:TXLNB semapv:UnspecifiedMatching OMIM:611438 TXLNB skos:exactMatch ncbigene:167838 semapv:UnspecifiedMatching OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:ZBTB22 semapv:UnspecifiedMatching OMIM:611439 ZBTB22 skos:exactMatch ncbigene:9278 semapv:UnspecifiedMatching OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:WDR46 semapv:UnspecifiedMatching OMIM:611440 WDR46 skos:exactMatch ncbigene:9277 semapv:UnspecifiedMatching -OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:DUX1 semapv:UnspecifiedMatching OMIM:611441 DUX1 skos:exactMatch ncbigene:26584 semapv:UnspecifiedMatching -OMIM:611442 DUX2 skos:exactMatch ncbigene:26583 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:DUX1 semapv:UnspecifiedMatching OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:DUX4L8 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch ncbigene:26583 semapv:UnspecifiedMatching OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:DUX3 semapv:UnspecifiedMatching OMIM:611443 DUX3 skos:exactMatch ncbigene:26582 semapv:UnspecifiedMatching OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:DUX5 semapv:UnspecifiedMatching OMIM:611444 DUX5 skos:exactMatch ncbigene:26581 semapv:UnspecifiedMatching OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:DNM3 semapv:UnspecifiedMatching OMIM:611445 DNM3 skos:exactMatch ncbigene:26052 semapv:UnspecifiedMatching -OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:DUSP18 semapv:UnspecifiedMatching OMIM:611446 DUSP18 skos:exactMatch ncbigene:150290 semapv:UnspecifiedMatching -OMIM:611447 YBX2 skos:exactMatch ncbigene:51087 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:DUSP18 semapv:UnspecifiedMatching OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:YBX2 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch ncbigene:51087 semapv:UnspecifiedMatching OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:BMS1 semapv:UnspecifiedMatching OMIM:611448 BMS1 skos:exactMatch ncbigene:9790 semapv:UnspecifiedMatching OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:XPO4 semapv:UnspecifiedMatching OMIM:611449 XPO4 skos:exactMatch ncbigene:64328 semapv:UnspecifiedMatching -OMIM:611450 PXK skos:exactMatch hgnc.symbol:PXK semapv:UnspecifiedMatching OMIM:611450 PXK skos:exactMatch ncbigene:54899 semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch hgnc.symbol:PXK semapv:UnspecifiedMatching OMIM:611453 DBNDD2 skos:exactMatch ncbigene:55861 semapv:UnspecifiedMatching OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:DBNDD2 semapv:UnspecifiedMatching -OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching OMIM:611455 KNCN skos:exactMatch hgnc.symbol:KNCN semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch UMLS:C1969616 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:FOXO6 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch ncbigene:100132074 semapv:UnspecifiedMatching OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:GLB1 semapv:UnspecifiedMatching OMIM:611458 GLB1 skos:exactMatch ncbigene:2720 semapv:UnspecifiedMatching -OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:SLC10A7 semapv:UnspecifiedMatching OMIM:611459 SLC10A7 skos:exactMatch ncbigene:84068 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:SLC10A7 semapv:UnspecifiedMatching OMIM:611460 TPRG1L skos:exactMatch ncbigene:127262 semapv:UnspecifiedMatching OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:TPRG1L semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch ncbigene:51310 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:SLC22A17 semapv:UnspecifiedMatching OMIM:611461 SLC22A17 skos:exactMatch UMLS:C1427912 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:SLC22A17 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch ncbigene:51310 semapv:UnspecifiedMatching OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:PIK3R6 semapv:UnspecifiedMatching OMIM:611462 PIK3R6 skos:exactMatch ncbigene:146850 semapv:UnspecifiedMatching OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:SAT2 semapv:UnspecifiedMatching OMIM:611463 SAT2 skos:exactMatch ncbigene:112483 semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch UMLS:C1537933 semapv:UnspecifiedMatching OMIM:611464 MON1A skos:exactMatch hgnc.symbol:MON1A semapv:UnspecifiedMatching OMIM:611464 MON1A skos:exactMatch ncbigene:84315 semapv:UnspecifiedMatching -OMIM:611466 PLEKHM1 skos:exactMatch ncbigene:9842 semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch UMLS:C1537933 semapv:UnspecifiedMatching OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:PLEKHM1 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch ncbigene:9842 semapv:UnspecifiedMatching OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:GBP5 semapv:UnspecifiedMatching OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch ncbigene:115362 semapv:UnspecifiedMatching OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:BDNF-AS semapv:UnspecifiedMatching OMIM:611468 BDNFAS skos:exactMatch ncbigene:497258 semapv:UnspecifiedMatching -OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching OMIM:611470 GLULD1 skos:exactMatch ncbigene:51557 semapv:UnspecifiedMatching -OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:ACP6 semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching OMIM:611471 ACP6 skos:exactMatch ncbigene:51205 semapv:UnspecifiedMatching -OMIM:611472 MBD5 skos:exactMatch ncbigene:55777 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:ACP6 semapv:UnspecifiedMatching OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:MBD5 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch ncbigene:55777 semapv:UnspecifiedMatching OMIM:611473 ESRG skos:exactMatch hgnc.symbol:ESRG semapv:UnspecifiedMatching OMIM:611473 ESRG skos:exactMatch ncbigene:790952 semapv:UnspecifiedMatching OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:PLAAT5 semapv:UnspecifiedMatching OMIM:611474 PLAAT5 skos:exactMatch ncbigene:117245 semapv:UnspecifiedMatching OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:RPAP1 semapv:UnspecifiedMatching OMIM:611475 RPAP1 skos:exactMatch ncbigene:26015 semapv:UnspecifiedMatching -OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:RPAP2 semapv:UnspecifiedMatching OMIM:611476 RPAP2 skos:exactMatch ncbigene:79871 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:RPAP2 semapv:UnspecifiedMatching OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:RPAP3 semapv:UnspecifiedMatching OMIM:611477 RPAP3 skos:exactMatch ncbigene:79657 semapv:UnspecifiedMatching OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:MEPCE semapv:UnspecifiedMatching @@ -30695,122 +30699,122 @@ OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:GPN1 semapv:UnspecifiedMatching OMIM:611479 XAB1 skos:exactMatch ncbigene:11321 semapv:UnspecifiedMatching OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:PIH1D1 semapv:UnspecifiedMatching OMIM:611480 PIH1D1 skos:exactMatch ncbigene:55011 semapv:UnspecifiedMatching -OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:UFSP1 semapv:UnspecifiedMatching OMIM:611481 UFSP1 skos:exactMatch ncbigene:402682 semapv:UnspecifiedMatching -OMIM:611482 UFSP2 skos:exactMatch ncbigene:55325 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:UFSP1 semapv:UnspecifiedMatching OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:UFSP2 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch ncbigene:81555 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch ncbigene:55325 semapv:UnspecifiedMatching OMIM:611483 YIPF5 skos:exactMatch UMLS:C1823890 semapv:UnspecifiedMatching OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:YIPF5 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch ncbigene:81555 semapv:UnspecifiedMatching OMIM:611484 YIF1A skos:exactMatch UMLS:C1823885 semapv:UnspecifiedMatching OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:YIF1A semapv:UnspecifiedMatching OMIM:611484 YIF1A skos:exactMatch ncbigene:10897 semapv:UnspecifiedMatching -OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:CYP4F12 semapv:UnspecifiedMatching OMIM:611485 CYP4F12 skos:exactMatch ncbigene:66002 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:CYP4F12 semapv:UnspecifiedMatching OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:SYCE1 semapv:UnspecifiedMatching OMIM:611486 SYCE1 skos:exactMatch ncbigene:93426 semapv:UnspecifiedMatching OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:SYCE2 semapv:UnspecifiedMatching OMIM:611487 SYCE2 skos:exactMatch ncbigene:256126 semapv:UnspecifiedMatching -OMIM:611491 RADIL skos:exactMatch ncbigene:55698 semapv:UnspecifiedMatching OMIM:611491 RADIL skos:exactMatch hgnc.symbol:RADIL semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch ncbigene:55698 semapv:UnspecifiedMatching OMIM:611492 CA2 skos:exactMatch hgnc.symbol:CA2 semapv:UnspecifiedMatching OMIM:611492 CA2 skos:exactMatch ncbigene:760 semapv:UnspecifiedMatching -OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching OMIM:611495 CYP4F22 skos:exactMatch ncbigene:126410 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:GATA5 semapv:UnspecifiedMatching OMIM:611496 GATA5 skos:exactMatch ncbigene:140628 semapv:UnspecifiedMatching OMIM:611499 GUSB skos:exactMatch hgnc.symbol:GUSB semapv:UnspecifiedMatching OMIM:611499 GUSB skos:exactMatch ncbigene:2990 semapv:UnspecifiedMatching -OMIM:611500 MIR219-1 skos:exactMatch ncbigene:407002 semapv:UnspecifiedMatching OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:MIR219A1 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch ncbigene:407002 semapv:UnspecifiedMatching OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:CAMTA1 semapv:UnspecifiedMatching OMIM:611501 CAMTA1 skos:exactMatch ncbigene:23261 semapv:UnspecifiedMatching -OMIM:611502 CENPK skos:exactMatch hgnc.symbol:CENPK semapv:UnspecifiedMatching OMIM:611502 CENPK skos:exactMatch ncbigene:64105 semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch hgnc.symbol:CENPK semapv:UnspecifiedMatching OMIM:611503 CENPL skos:exactMatch hgnc.symbol:CENPL semapv:UnspecifiedMatching OMIM:611503 CENPL skos:exactMatch ncbigene:91687 semapv:UnspecifiedMatching OMIM:611504 CENPO skos:exactMatch hgnc.symbol:CENPO semapv:UnspecifiedMatching OMIM:611504 CENPO skos:exactMatch ncbigene:79172 semapv:UnspecifiedMatching -OMIM:611505 CENPP skos:exactMatch ncbigene:401541 semapv:UnspecifiedMatching OMIM:611505 CENPP skos:exactMatch hgnc.symbol:CENPP semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch ncbigene:401541 semapv:UnspecifiedMatching OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:CENPQ semapv:UnspecifiedMatching OMIM:611506 CENPQ skos:exactMatch ncbigene:55166 semapv:UnspecifiedMatching OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:CISD2 semapv:UnspecifiedMatching OMIM:611507 CISD2 skos:exactMatch ncbigene:493856 semapv:UnspecifiedMatching -OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:CAMTA2 semapv:UnspecifiedMatching OMIM:611508 CAMTA2 skos:exactMatch ncbigene:23125 semapv:UnspecifiedMatching -OMIM:611509 CENPN skos:exactMatch ncbigene:55839 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:CAMTA2 semapv:UnspecifiedMatching OMIM:611509 CENPN skos:exactMatch hgnc.symbol:CENPN semapv:UnspecifiedMatching -OMIM:611510 CENPT skos:exactMatch ncbigene:80152 semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch ncbigene:55839 semapv:UnspecifiedMatching OMIM:611510 CENPT skos:exactMatch hgnc.symbol:CENPT semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch ncbigene:80152 semapv:UnspecifiedMatching OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:CENPU semapv:UnspecifiedMatching OMIM:611511 MLF1IP skos:exactMatch ncbigene:79682 semapv:UnspecifiedMatching -OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:KDM3A semapv:UnspecifiedMatching OMIM:611512 KDM3A skos:exactMatch ncbigene:55818 semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:KDM3A semapv:UnspecifiedMatching OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:NEUROD6 semapv:UnspecifiedMatching OMIM:611513 NEUROD6 skos:exactMatch ncbigene:63974 semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch UMLS:C1825410 semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch hgnc.symbol:WLS semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch ncbigene:79971 semapv:UnspecifiedMatching -OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:NICN1 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:CYP4F11 semapv:UnspecifiedMatching OMIM:611517 CYP4F11 skos:exactMatch ncbigene:57834 semapv:UnspecifiedMatching -OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:DOCK10 semapv:UnspecifiedMatching OMIM:611518 DOCK10 skos:exactMatch ncbigene:55619 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:DOCK10 semapv:UnspecifiedMatching OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:POLDIP2 semapv:UnspecifiedMatching OMIM:611519 POLDIP2 skos:exactMatch ncbigene:26073 semapv:UnspecifiedMatching OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:POLDIP3 semapv:UnspecifiedMatching OMIM:611520 POLDIP3 skos:exactMatch ncbigene:84271 semapv:UnspecifiedMatching -OMIM:611524 RARS2 skos:exactMatch ncbigene:57038 semapv:UnspecifiedMatching OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:RARS2 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch ncbigene:57038 semapv:UnspecifiedMatching OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:POLD4 semapv:UnspecifiedMatching OMIM:611525 POLD4 skos:exactMatch ncbigene:57804 semapv:UnspecifiedMatching -OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:NOP14 semapv:UnspecifiedMatching OMIM:611526 NOP14 skos:exactMatch ncbigene:8602 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:NOP14 semapv:UnspecifiedMatching OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:SLC9B1 semapv:UnspecifiedMatching OMIM:611527 NHEDC1 skos:exactMatch ncbigene:150159 semapv:UnspecifiedMatching OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:CYP2S1 semapv:UnspecifiedMatching OMIM:611529 CYP2S1 skos:exactMatch ncbigene:29785 semapv:UnspecifiedMatching -OMIM:611530 NLN skos:exactMatch ncbigene:57486 semapv:UnspecifiedMatching OMIM:611530 NLN skos:exactMatch hgnc.symbol:NLN semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch ncbigene:57486 semapv:UnspecifiedMatching OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:EMG1 semapv:UnspecifiedMatching OMIM:611531 EMG1 skos:exactMatch ncbigene:10436 semapv:UnspecifiedMatching OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:NOL6 semapv:UnspecifiedMatching OMIM:611532 NOL6 skos:exactMatch ncbigene:65083 semapv:UnspecifiedMatching -OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:NOL7 semapv:UnspecifiedMatching OMIM:611533 NOL7 skos:exactMatch ncbigene:51406 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:NOL7 semapv:UnspecifiedMatching OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:NOL8 semapv:UnspecifiedMatching OMIM:611534 NOL8 skos:exactMatch ncbigene:55035 semapv:UnspecifiedMatching -OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:CTNNBL1 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:OR7D4 semapv:UnspecifiedMatching OMIM:611538 OR7D4 skos:exactMatch ncbigene:125958 semapv:UnspecifiedMatching OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:FOXD3 semapv:UnspecifiedMatching OMIM:611539 FOXD3 skos:exactMatch ncbigene:27022 semapv:UnspecifiedMatching -OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:SGIP1 semapv:UnspecifiedMatching OMIM:611540 SGIP1 skos:exactMatch ncbigene:84251 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:SGIP1 semapv:UnspecifiedMatching OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:SNX27 semapv:UnspecifiedMatching OMIM:611541 SNX27 skos:exactMatch ncbigene:81609 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch ncbigene:411 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch hgnc.symbol:ARSB semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C4017254 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C1412554 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C4017252 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C4017253 semapv:UnspecifiedMatching -OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:CYP4F8 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C4017254 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch hgnc.symbol:ARSB semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch ncbigene:411 semapv:UnspecifiedMatching OMIM:611545 CYP4F8 skos:exactMatch ncbigene:11283 semapv:UnspecifiedMatching -OMIM:611546 ELOVL6 skos:exactMatch ncbigene:79071 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:CYP4F8 semapv:UnspecifiedMatching OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:ELOVL6 semapv:UnspecifiedMatching -OMIM:611549 NALCN skos:exactMatch ncbigene:259232 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch ncbigene:79071 semapv:UnspecifiedMatching OMIM:611549 NALCN skos:exactMatch hgnc.symbol:NALCN semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch ncbigene:259232 semapv:UnspecifiedMatching OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:NCR3 semapv:UnspecifiedMatching OMIM:611550 NCR3 skos:exactMatch ncbigene:259197 semapv:UnspecifiedMatching OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:FBLN7 semapv:UnspecifiedMatching OMIM:611551 FBLN7 skos:exactMatch ncbigene:129804 semapv:UnspecifiedMatching -OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:NAPRT semapv:UnspecifiedMatching OMIM:611552 NAPRT skos:exactMatch ncbigene:93100 semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:NAPRT semapv:UnspecifiedMatching OMIM:611553 noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching OMIM:611553 noonan syndrome 5 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching @@ -30818,12 +30822,12 @@ OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch UMLS:C1969054 sem OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:UPK1A semapv:UnspecifiedMatching OMIM:611557 UPK1A skos:exactMatch ncbigene:11045 semapv:UnspecifiedMatching -OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:UPK2 semapv:UnspecifiedMatching OMIM:611558 UPK2 skos:exactMatch ncbigene:7379 semapv:UnspecifiedMatching -OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:UPK3A semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:UPK2 semapv:UnspecifiedMatching OMIM:611559 UPK3A skos:exactMatch ncbigene:7380 semapv:UnspecifiedMatching -OMIM:611562 SEPT12 skos:exactMatch ncbigene:124404 semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:UPK3A semapv:UnspecifiedMatching OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:SEPTIN12 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch ncbigene:124404 semapv:UnspecifiedMatching OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:SEPTIN7P2 semapv:UnspecifiedMatching OMIM:611563 SEPT13 skos:exactMatch ncbigene:641977 semapv:UnspecifiedMatching OMIM:611564 BANP skos:exactMatch UMLS:C1538317 semapv:UnspecifiedMatching @@ -30831,72 +30835,72 @@ OMIM:611564 BANP skos:exactMatch hgnc.symbol:BANP semapv:UnspecifiedMatching OMIM:611564 BANP skos:exactMatch ncbigene:54971 semapv:UnspecifiedMatching OMIM:611565 BLTP1 skos:exactMatch hgnc.symbol:BLTP1 semapv:UnspecifiedMatching OMIM:611565 BLTP1 skos:exactMatch ncbigene:84162 semapv:UnspecifiedMatching -OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:PRPS1L1 semapv:UnspecifiedMatching OMIM:611566 PRPS1L1 skos:exactMatch ncbigene:221823 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:PRPS1L1 semapv:UnspecifiedMatching OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:MACROD2 semapv:UnspecifiedMatching OMIM:611567 MACROD2 skos:exactMatch ncbigene:140733 semapv:UnspecifiedMatching OMIM:611568 SYBU skos:exactMatch hgnc.symbol:SYBU semapv:UnspecifiedMatching OMIM:611568 SYBU skos:exactMatch ncbigene:55638 semapv:UnspecifiedMatching OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:CKAP2 semapv:UnspecifiedMatching OMIM:611569 CKAP2 skos:exactMatch ncbigene:26586 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch ncbigene:2203 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch UMLS:C1414544 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:SGMS1 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch ncbigene:259230 semapv:UnspecifiedMatching OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:SGMS2 semapv:UnspecifiedMatching OMIM:611574 SGMS2 skos:exactMatch ncbigene:166929 semapv:UnspecifiedMatching OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:SAMD8 semapv:UnspecifiedMatching OMIM:611575 SAMD8 skos:exactMatch ncbigene:142891 semapv:UnspecifiedMatching -OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:MIR10B semapv:UnspecifiedMatching OMIM:611576 MIR10B skos:exactMatch ncbigene:406903 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch ncbigene:23135 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:KDM6B semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:MIR10B semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C1428772 semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C5193134 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:KDM6B semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch ncbigene:23135 semapv:UnspecifiedMatching OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:FRRS1 semapv:UnspecifiedMatching OMIM:611578 FRRS1 skos:exactMatch ncbigene:391059 semapv:UnspecifiedMatching OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:TMEM114 semapv:UnspecifiedMatching OMIM:611579 TMEM114 skos:exactMatch ncbigene:283953 semapv:UnspecifiedMatching -OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:EDDM3A semapv:UnspecifiedMatching OMIM:611580 EDDM3A skos:exactMatch ncbigene:10876 semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:EDDM3A semapv:UnspecifiedMatching OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:EDDM3B semapv:UnspecifiedMatching OMIM:611582 FAM12B skos:exactMatch ncbigene:64184 semapv:UnspecifiedMatching -OMIM:611583 ARID5A skos:exactMatch ncbigene:10865 semapv:UnspecifiedMatching OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:ARID5A semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch ncbigene:10865 semapv:UnspecifiedMatching OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch UMLS:C1823264 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch hgnc.symbol:TESC semapv:UnspecifiedMatching OMIM:611585 TESC skos:exactMatch ncbigene:54997 semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch hgnc.symbol:TESC semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch UMLS:C1823264 semapv:UnspecifiedMatching OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:C1QL1 semapv:UnspecifiedMatching OMIM:611586 C1QL1 skos:exactMatch ncbigene:10882 semapv:UnspecifiedMatching -OMIM:611587 ARHGAP19 skos:exactMatch ncbigene:84986 semapv:UnspecifiedMatching OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:ARHGAP19 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch ncbigene:84986 semapv:UnspecifiedMatching OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:PNPLA5 semapv:UnspecifiedMatching OMIM:611589 PNPLA5 skos:exactMatch ncbigene:150379 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching -OMIM:611591 PPBPP2 skos:exactMatch ncbigene:10895 semapv:UnspecifiedMatching OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:PPBPP2 semapv:UnspecifiedMatching -OMIM:611592 FARS2 skos:exactMatch ncbigene:10667 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch ncbigene:10895 semapv:UnspecifiedMatching OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:FARS2 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch ncbigene:10667 semapv:UnspecifiedMatching OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:SMR3B semapv:UnspecifiedMatching OMIM:611593 SMR3B skos:exactMatch ncbigene:10879 semapv:UnspecifiedMatching -OMIM:611594 USP39 skos:exactMatch hgnc.symbol:USP39 semapv:UnspecifiedMatching OMIM:611594 USP39 skos:exactMatch ncbigene:10713 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch hgnc.symbol:USP39 semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch UMLS:C1540140 semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:TXNL4A semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch ncbigene:10907 semapv:UnspecifiedMatching -OMIM:611596 DHRS4 skos:exactMatch ncbigene:10901 semapv:UnspecifiedMatching OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:DHRS4 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch ncbigene:10901 semapv:UnspecifiedMatching OMIM:611597 cataract 12, multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching OMIM:611597 cataract 12, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:MIR206 semapv:UnspecifiedMatching @@ -30905,70 +30909,70 @@ OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:RIMS3 semapv:UnspecifiedMatching OMIM:611600 RIMS3 skos:exactMatch ncbigene:9783 semapv:UnspecifiedMatching OMIM:611601 RIMS4 skos:exactMatch ncbigene:140730 semapv:UnspecifiedMatching OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:RIMS4 semapv:UnspecifiedMatching -OMIM:611602 RIMBP2 skos:exactMatch ncbigene:23504 semapv:UnspecifiedMatching OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:RIMBP2 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch ncbigene:23504 semapv:UnspecifiedMatching OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:ERLIN1 semapv:UnspecifiedMatching OMIM:611604 ERLIN1 skos:exactMatch ncbigene:10613 semapv:UnspecifiedMatching OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:ERLIN2 semapv:UnspecifiedMatching OMIM:611605 ERLIN2 skos:exactMatch ncbigene:11160 semapv:UnspecifiedMatching OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:MIR96 semapv:UnspecifiedMatching OMIM:611606 MIR96 skos:exactMatch ncbigene:407053 semapv:UnspecifiedMatching -OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:MIR182 semapv:UnspecifiedMatching OMIM:611607 MIR182 skos:exactMatch ncbigene:406958 semapv:UnspecifiedMatching -OMIM:611608 MIR183 skos:exactMatch ncbigene:406959 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:MIR182 semapv:UnspecifiedMatching OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:MIR183 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch ncbigene:406959 semapv:UnspecifiedMatching OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:SIPA1L2 semapv:UnspecifiedMatching OMIM:611609 SIPA1L2 skos:exactMatch ncbigene:57568 semapv:UnspecifiedMatching OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:PGM2L1 semapv:UnspecifiedMatching OMIM:611610 PGM2L1 skos:exactMatch ncbigene:283209 semapv:UnspecifiedMatching OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:SCAPER semapv:UnspecifiedMatching OMIM:611611 SCAPER skos:exactMatch ncbigene:49855 semapv:UnspecifiedMatching -OMIM:611612 THTPA skos:exactMatch hgnc.symbol:THTPA semapv:UnspecifiedMatching OMIM:611612 THTPA skos:exactMatch ncbigene:79178 semapv:UnspecifiedMatching -OMIM:611613 POGLUT2 skos:exactMatch ncbigene:79070 semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch hgnc.symbol:THTPA semapv:UnspecifiedMatching OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:POGLUT2 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch ncbigene:79070 semapv:UnspecifiedMatching OMIM:611614 UTP3 skos:exactMatch UMLS:C1969026 semapv:UnspecifiedMatching OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:UTP3 semapv:UnspecifiedMatching OMIM:611614 UTP3 skos:exactMatch ncbigene:57050 semapv:UnspecifiedMatching OMIM:611616 NADK skos:exactMatch hgnc.symbol:NADK semapv:UnspecifiedMatching OMIM:611616 NADK skos:exactMatch ncbigene:65220 semapv:UnspecifiedMatching -OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:EFHD1 semapv:UnspecifiedMatching OMIM:611617 EFHD1 skos:exactMatch ncbigene:80303 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:EFHD1 semapv:UnspecifiedMatching OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:MIR877 semapv:UnspecifiedMatching OMIM:611619 MIR877 skos:exactMatch ncbigene:100126314 semapv:UnspecifiedMatching -OMIM:611620 MIR1224 skos:exactMatch ncbigene:100187716 semapv:UnspecifiedMatching OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:MIR1224 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch ncbigene:100187716 semapv:UnspecifiedMatching OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:MIR1225 semapv:UnspecifiedMatching OMIM:611621 MIR1225 skos:exactMatch ncbigene:100188847 semapv:UnspecifiedMatching -OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:IQCJ semapv:UnspecifiedMatching OMIM:611622 IQCJ skos:exactMatch ncbigene:654502 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:NECAP1 semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:IQCJ semapv:UnspecifiedMatching OMIM:611623 NECAP1 skos:exactMatch ncbigene:25977 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch UMLS:C1826394 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:NECAP1 semapv:UnspecifiedMatching OMIM:611623 NECAP1 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching -OMIM:611624 NECAP2 skos:exactMatch ncbigene:55707 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch UMLS:C1826394 semapv:UnspecifiedMatching OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:NECAP2 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch ncbigene:55707 semapv:UnspecifiedMatching OMIM:611625 GID8 skos:exactMatch hgnc.symbol:GID8 semapv:UnspecifiedMatching OMIM:611625 GID8 skos:exactMatch ncbigene:54994 semapv:UnspecifiedMatching OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:MPHOSPH8 semapv:UnspecifiedMatching OMIM:611626 MPHOSPH8 skos:exactMatch ncbigene:54737 semapv:UnspecifiedMatching OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:TLCD3A semapv:UnspecifiedMatching OMIM:611627 TLCD3A skos:exactMatch ncbigene:79850 semapv:UnspecifiedMatching -OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:NAV1 semapv:UnspecifiedMatching OMIM:611628 NAV1 skos:exactMatch ncbigene:89796 semapv:UnspecifiedMatching -OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:NAV1 semapv:UnspecifiedMatching OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:NAV3 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:UBIAD1 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch ncbigene:29914 semapv:UnspecifiedMatching OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:RTF1 semapv:UnspecifiedMatching OMIM:611633 RTF1 skos:exactMatch ncbigene:23168 semapv:UnspecifiedMatching -OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching OMIM:611635 NEUROD4 skos:exactMatch ncbigene:58158 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching OMIM:611636 NAALAD2 skos:exactMatch ncbigene:10003 semapv:UnspecifiedMatching OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:NAALAD2 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch ncbigene:100125288 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:ZGLP1 semapv:UnspecifiedMatching OMIM:611639 ZGLP1 skos:exactMatch UMLS:C1999257 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:ZGLP1 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch ncbigene:100125288 semapv:UnspecifiedMatching OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:FANK1 semapv:UnspecifiedMatching OMIM:611640 FANK1 skos:exactMatch ncbigene:92565 semapv:UnspecifiedMatching OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:HEPN1 semapv:UnspecifiedMatching @@ -30977,98 +30981,98 @@ OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:HEPACAM semapv:UnspecifiedMatchi OMIM:611642 HEPACAM skos:exactMatch ncbigene:220296 semapv:UnspecifiedMatching OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:ZKSCAN4 semapv:UnspecifiedMatching OMIM:611643 ZKSCAN4 skos:exactMatch ncbigene:387032 semapv:UnspecifiedMatching -OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:CXXC4 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:SPHKAP semapv:UnspecifiedMatching OMIM:611646 SPHKAP skos:exactMatch ncbigene:80309 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch UMLS:C1540200 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:ARV1 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch UMLS:C1540200 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch ncbigene:64801 semapv:UnspecifiedMatching -OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:PPIP5K2 semapv:UnspecifiedMatching OMIM:611648 PPIP5K2 skos:exactMatch ncbigene:23262 semapv:UnspecifiedMatching -OMIM:611649 MINDY3 skos:exactMatch ncbigene:80013 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:PPIP5K2 semapv:UnspecifiedMatching OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:MINDY3 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch ncbigene:80013 semapv:UnspecifiedMatching OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:PLA2G3 semapv:UnspecifiedMatching OMIM:611651 PLA2G3 skos:exactMatch ncbigene:50487 semapv:UnspecifiedMatching OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:PLA2G12A semapv:UnspecifiedMatching OMIM:611652 PLA2G12A skos:exactMatch ncbigene:81579 semapv:UnspecifiedMatching OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:PLA2G12B semapv:UnspecifiedMatching OMIM:611653 PLA2G12B skos:exactMatch ncbigene:84647 semapv:UnspecifiedMatching -OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:CSPP1 semapv:UnspecifiedMatching OMIM:611654 CSPP1 skos:exactMatch ncbigene:79848 semapv:UnspecifiedMatching -OMIM:611655 PGAP1 skos:exactMatch ncbigene:80055 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:CSPP1 semapv:UnspecifiedMatching OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:PGAP1 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch ncbigene:80055 semapv:UnspecifiedMatching OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:SIKE1 semapv:UnspecifiedMatching OMIM:611656 SIKE1 skos:exactMatch ncbigene:80143 semapv:UnspecifiedMatching OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:SPSB1 semapv:UnspecifiedMatching OMIM:611657 SPSB1 skos:exactMatch ncbigene:80176 semapv:UnspecifiedMatching OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:SPSB2 semapv:UnspecifiedMatching OMIM:611658 SPSB2 skos:exactMatch ncbigene:84727 semapv:UnspecifiedMatching -OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:SPSB3 semapv:UnspecifiedMatching OMIM:611659 SPSB3 skos:exactMatch ncbigene:90864 semapv:UnspecifiedMatching -OMIM:611660 SPSB4 skos:exactMatch ncbigene:92369 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:SPSB3 semapv:UnspecifiedMatching OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:SPSB4 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch ncbigene:92369 semapv:UnspecifiedMatching OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:DBF4B semapv:UnspecifiedMatching OMIM:611661 DBF4B skos:exactMatch ncbigene:80174 semapv:UnspecifiedMatching OMIM:611662 EGOT skos:exactMatch hgnc.symbol:EGOT semapv:UnspecifiedMatching OMIM:611662 EGOT skos:exactMatch ncbigene:100126791 semapv:UnspecifiedMatching -OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:TBC1D20 semapv:UnspecifiedMatching OMIM:611663 TBC1D20 skos:exactMatch ncbigene:128637 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:TBC1D20 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch ncbigene:79039 semapv:UnspecifiedMatching OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:DDX54 semapv:UnspecifiedMatching OMIM:611665 DDX54 skos:exactMatch UMLS:C1426670 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch ncbigene:79039 semapv:UnspecifiedMatching OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:PLPP6 semapv:UnspecifiedMatching OMIM:611666 PLPP6 skos:exactMatch ncbigene:403313 semapv:UnspecifiedMatching OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:SPATS2 semapv:UnspecifiedMatching OMIM:611667 SPATS2 skos:exactMatch ncbigene:65244 semapv:UnspecifiedMatching OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:CORO7 semapv:UnspecifiedMatching OMIM:611668 CORO7 skos:exactMatch ncbigene:79585 semapv:UnspecifiedMatching -OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:TRMT1 semapv:UnspecifiedMatching OMIM:611669 TRMT1 skos:exactMatch ncbigene:55621 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:TRMT1 semapv:UnspecifiedMatching OMIM:611670 ISYNA1 skos:exactMatch ncbigene:51477 semapv:UnspecifiedMatching OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:ISYNA1 semapv:UnspecifiedMatching -OMIM:611671 PIGZ skos:exactMatch ncbigene:80235 semapv:UnspecifiedMatching OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:PIGZ semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch ncbigene:80235 semapv:UnspecifiedMatching OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:SLC46A1 semapv:UnspecifiedMatching OMIM:611672 SLC46A1 skos:exactMatch ncbigene:113235 semapv:UnspecifiedMatching OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:TRMT1L semapv:UnspecifiedMatching OMIM:611673 TRMT1L skos:exactMatch ncbigene:81627 semapv:UnspecifiedMatching OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:XKR3 semapv:UnspecifiedMatching OMIM:611674 XKR3 skos:exactMatch ncbigene:150165 semapv:UnspecifiedMatching -OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:KIAA0513 semapv:UnspecifiedMatching OMIM:611675 KIAA0513 skos:exactMatch ncbigene:9764 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch ncbigene:132954 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:PDCL2 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:KIAA0513 semapv:UnspecifiedMatching OMIM:611676 PDCL2 skos:exactMatch UMLS:C1428867 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:PDCL2 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch ncbigene:132954 semapv:UnspecifiedMatching OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:OR13G1 semapv:UnspecifiedMatching OMIM:611677 OR13G1 skos:exactMatch ncbigene:441933 semapv:UnspecifiedMatching OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:PDCL3 semapv:UnspecifiedMatching OMIM:611678 PDCL3 skos:exactMatch ncbigene:79031 semapv:UnspecifiedMatching -OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:FBXW10 semapv:UnspecifiedMatching OMIM:611679 FBXW10 skos:exactMatch ncbigene:10517 semapv:UnspecifiedMatching -OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:C1orf116 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:FBXW10 semapv:UnspecifiedMatching OMIM:611680 C1ORF116 skos:exactMatch ncbigene:79098 semapv:UnspecifiedMatching -OMIM:611681 ADAMTS20 skos:exactMatch ncbigene:80070 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:C1orf116 semapv:UnspecifiedMatching OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:ADAMTS20 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch ncbigene:80070 semapv:UnspecifiedMatching OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:LPAL2 semapv:UnspecifiedMatching OMIM:611682 LPAL2 skos:exactMatch ncbigene:80350 semapv:UnspecifiedMatching OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:FN3KRP semapv:UnspecifiedMatching OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch ncbigene:79672 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch ncbigene:9733 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch hgnc.symbol:SART3 semapv:UnspecifiedMatching OMIM:611684 SART3 skos:exactMatch UMLS:C1424600 semapv:UnspecifiedMatching OMIM:611684 SART3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch hgnc.symbol:SART3 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch ncbigene:9733 semapv:UnspecifiedMatching -OMIM:611685 RNF8 skos:exactMatch ncbigene:9025 semapv:UnspecifiedMatching OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:RNF8 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch ncbigene:9025 semapv:UnspecifiedMatching OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:CASD1 semapv:UnspecifiedMatching OMIM:611686 CASD1 skos:exactMatch ncbigene:64921 semapv:UnspecifiedMatching OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:KHDC3L semapv:UnspecifiedMatching OMIM:611687 KHDC3L skos:exactMatch ncbigene:154288 semapv:UnspecifiedMatching OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:KHDC1 semapv:UnspecifiedMatching OMIM:611688 KHDC1 skos:exactMatch ncbigene:80759 semapv:UnspecifiedMatching -OMIM:611689 OOEP skos:exactMatch hgnc.symbol:OOEP semapv:UnspecifiedMatching OMIM:611689 OOEP skos:exactMatch ncbigene:441161 semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch hgnc.symbol:OOEP semapv:UnspecifiedMatching OMIM:611690 PRRG4 skos:exactMatch ncbigene:79056 semapv:UnspecifiedMatching OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:PRRG4 semapv:UnspecifiedMatching OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:SVEP1 semapv:UnspecifiedMatching @@ -31079,30 +31083,30 @@ OMIM:611693 CLMP skos:exactMatch hgnc.symbol:CLMP semapv:UnspecifiedMatching OMIM:611693 CLMP skos:exactMatch ncbigene:79827 semapv:UnspecifiedMatching OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:TTBK2 semapv:UnspecifiedMatching OMIM:611695 TTBK2 skos:exactMatch ncbigene:146057 semapv:UnspecifiedMatching -OMIM:611696 SLC22A20 skos:exactMatch ncbigene:440044 semapv:UnspecifiedMatching OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:SLC22A20P semapv:UnspecifiedMatching -OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:SLC22A23 semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch ncbigene:440044 semapv:UnspecifiedMatching OMIM:611697 SLC22A23 skos:exactMatch ncbigene:63027 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:SLC22A23 semapv:UnspecifiedMatching OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:SLC22A24 semapv:UnspecifiedMatching OMIM:611698 SLC22A24 skos:exactMatch ncbigene:283238 semapv:UnspecifiedMatching OMIM:611699 SVOP skos:exactMatch hgnc.symbol:SVOP semapv:UnspecifiedMatching OMIM:611699 SVOP skos:exactMatch ncbigene:55530 semapv:UnspecifiedMatching OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:SVOPL semapv:UnspecifiedMatching OMIM:611700 SVOPL skos:exactMatch ncbigene:136306 semapv:UnspecifiedMatching -OMIM:611701 SPNS3 skos:exactMatch ncbigene:201305 semapv:UnspecifiedMatching OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:SPNS3 semapv:UnspecifiedMatching -OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:ZNF436 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch ncbigene:201305 semapv:UnspecifiedMatching OMIM:611703 ZNF436 skos:exactMatch ncbigene:80818 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:ZNF436 semapv:UnspecifiedMatching OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:TMPRSS11A semapv:UnspecifiedMatching OMIM:611704 TMPRSS11A skos:exactMatch ncbigene:339967 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:MPZL3 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch ncbigene:196264 semapv:UnspecifiedMatching OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:MIR431 semapv:UnspecifiedMatching OMIM:611708 MIR431 skos:exactMatch ncbigene:574038 semapv:UnspecifiedMatching -OMIM:611709 MIR127 skos:exactMatch ncbigene:406914 semapv:UnspecifiedMatching OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:MIR127 semapv:UnspecifiedMatching -OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:MIR136 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch ncbigene:406914 semapv:UnspecifiedMatching OMIM:611710 MIR136 skos:exactMatch ncbigene:406927 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:MIR136 semapv:UnspecifiedMatching OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:MIR433 semapv:UnspecifiedMatching OMIM:611711 MIR433 skos:exactMatch ncbigene:574034 semapv:UnspecifiedMatching OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:HIPK4 semapv:UnspecifiedMatching @@ -31120,18 +31124,18 @@ OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:ATP6V0A2 semapv:UnspecifiedMatc OMIM:611716 ATP6V0A2 skos:exactMatch ncbigene:23545 semapv:UnspecifiedMatching OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:IRF2BPL semapv:UnspecifiedMatching OMIM:611720 IRF2BPL skos:exactMatch ncbigene:64207 semapv:UnspecifiedMatching -OMIM:611723 C21ORF24 skos:exactMatch ncbigene:400866 semapv:UnspecifiedMatching OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:LINC00114 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch ncbigene:400866 semapv:UnspecifiedMatching OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:KCTD7 semapv:UnspecifiedMatching OMIM:611725 KCTD7 skos:exactMatch ncbigene:154881 semapv:UnspecifiedMatching OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:FAM163A semapv:UnspecifiedMatching OMIM:611727 C1ORF76 skos:exactMatch ncbigene:148753 semapv:UnspecifiedMatching -OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:PRR5L semapv:UnspecifiedMatching OMIM:611728 PRR5L skos:exactMatch ncbigene:79899 semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:PRR5L semapv:UnspecifiedMatching OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:KLC2 semapv:UnspecifiedMatching OMIM:611729 KLC2 skos:exactMatch ncbigene:64837 semapv:UnspecifiedMatching -OMIM:611730 EPB41L5 skos:exactMatch ncbigene:57669 semapv:UnspecifiedMatching OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:EPB41L5 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch ncbigene:57669 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch hgnc.symbol:APC semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C4310860 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C4017262 semapv:UnspecifiedMatching @@ -31141,16 +31145,16 @@ OMIM:611731 APC skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C2673229 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C2673224 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C1861807 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C0162832 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch ncbigene:324 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching OMIM:611732 MBOAT1 skos:exactMatch ncbigene:154141 semapv:UnspecifiedMatching OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:MBOAT1 semapv:UnspecifiedMatching OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:WDR77 semapv:UnspecifiedMatching @@ -31162,28 +31166,28 @@ OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatchi OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching OMIM:611737 SEPT10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch ncbigene:83875 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:ASIC3 semapv:UnspecifiedMatching OMIM:611741 ASIC3 skos:exactMatch ncbigene:9311 semapv:UnspecifiedMatching OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:PLEKHG6 semapv:UnspecifiedMatching OMIM:611743 PLEKHG6 skos:exactMatch ncbigene:55200 semapv:UnspecifiedMatching OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:OTUD4 semapv:UnspecifiedMatching OMIM:611744 OTUD4 skos:exactMatch ncbigene:54726 semapv:UnspecifiedMatching -OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:VCPIP1 semapv:UnspecifiedMatching OMIM:611745 VCPIP1 skos:exactMatch ncbigene:80124 semapv:UnspecifiedMatching -OMIM:611746 SCUBE1 skos:exactMatch ncbigene:80274 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:VCPIP1 semapv:UnspecifiedMatching OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:SCUBE1 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch ncbigene:80274 semapv:UnspecifiedMatching OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:SCUBE2 semapv:UnspecifiedMatching OMIM:611747 SCUBE2 skos:exactMatch ncbigene:57758 semapv:UnspecifiedMatching OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:OTUD7B semapv:UnspecifiedMatching OMIM:611748 OTUD7B skos:exactMatch ncbigene:56957 semapv:UnspecifiedMatching -OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:ZRANB1 semapv:UnspecifiedMatching OMIM:611749 ZRANB1 skos:exactMatch ncbigene:54764 semapv:UnspecifiedMatching -OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:SYNC semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:ZRANB1 semapv:UnspecifiedMatching OMIM:611750 SYNC1 skos:exactMatch ncbigene:81493 semapv:UnspecifiedMatching -OMIM:611751 THUMPD2 skos:exactMatch ncbigene:80745 semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:SYNC semapv:UnspecifiedMatching OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:THUMPD2 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch ncbigene:80745 semapv:UnspecifiedMatching OMIM:611752 ECRG4 skos:exactMatch UMLS:C1824107 semapv:UnspecifiedMatching OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:ECRG4 semapv:UnspecifiedMatching OMIM:611752 ECRG4 skos:exactMatch ncbigene:84417 semapv:UnspecifiedMatching @@ -31191,40 +31195,40 @@ OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:VMP1 semapv:UnspecifiedMatching OMIM:611753 VMP1 skos:exactMatch ncbigene:81671 semapv:UnspecifiedMatching OMIM:611754 AADAT skos:exactMatch hgnc.symbol:AADAT semapv:UnspecifiedMatching OMIM:611754 AADAT skos:exactMatch ncbigene:51166 semapv:UnspecifiedMatching -OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:ROPN1L semapv:UnspecifiedMatching OMIM:611756 ROPN1L skos:exactMatch ncbigene:83853 semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:ROPN1L semapv:UnspecifiedMatching OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:ROPN1 semapv:UnspecifiedMatching OMIM:611757 ROPN1 skos:exactMatch ncbigene:54763 semapv:UnspecifiedMatching -OMIM:611758 OTUD3 skos:exactMatch ncbigene:23252 semapv:UnspecifiedMatching OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:OTUD3 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch ncbigene:23252 semapv:UnspecifiedMatching OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:STARD3NL semapv:UnspecifiedMatching OMIM:611759 STARD3NL skos:exactMatch ncbigene:83930 semapv:UnspecifiedMatching OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:PCDH17 semapv:UnspecifiedMatching OMIM:611760 PCDH17 skos:exactMatch ncbigene:27253 semapv:UnspecifiedMatching -OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:LMF1 semapv:UnspecifiedMatching OMIM:611761 LMF1 skos:exactMatch ncbigene:64788 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch ncbigene:81606 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch hgnc.symbol:LBH semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:LMF1 semapv:UnspecifiedMatching OMIM:611763 LBH skos:exactMatch UMLS:C1825795 semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch hgnc.symbol:LBH semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch ncbigene:81606 semapv:UnspecifiedMatching OMIM:611764 CNFN skos:exactMatch hgnc.symbol:CNFN semapv:UnspecifiedMatching OMIM:611764 CNFN skos:exactMatch ncbigene:84518 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch ncbigene:151516 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch UMLS:C2239905 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:ASPRV1 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch ncbigene:151516 semapv:UnspecifiedMatching -OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:MTFMT semapv:UnspecifiedMatching OMIM:611766 MTFMT skos:exactMatch ncbigene:123263 semapv:UnspecifiedMatching -OMIM:611767 MIR126 skos:exactMatch ncbigene:406913 semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:MTFMT semapv:UnspecifiedMatching OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:MIR126 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch ncbigene:406913 semapv:UnspecifiedMatching OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:MIR335 semapv:UnspecifiedMatching OMIM:611768 MIR335 skos:exactMatch ncbigene:442904 semapv:UnspecifiedMatching OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:MIR128-2 semapv:UnspecifiedMatching OMIM:611769 MIR128-2 skos:exactMatch ncbigene:406916 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch ncbigene:137814 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:NKX2-6 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch UMLS:C0041207 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1826429 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:NKX2-6 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch ncbigene:137814 semapv:UnspecifiedMatching OMIM:611772 NUF2 skos:exactMatch UMLS:C1826495 semapv:UnspecifiedMatching OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:NUF2 semapv:UnspecifiedMatching OMIM:611772 NUF2 skos:exactMatch ncbigene:83540 semapv:UnspecifiedMatching @@ -31233,8 +31237,8 @@ OMIM:611774 MIR128-1 skos:exactMatch ncbigene:406915 semapv:UnspecifiedMatching OMIM:611775 kawasaki disease skos:exactMatch UMLS:C2936917 semapv:UnspecifiedMatching OMIM:611775 kawasaki disease skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching OMIM:611775 kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching -OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:NDUFAF4 semapv:UnspecifiedMatching OMIM:611776 NDUFAF4 skos:exactMatch ncbigene:29078 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:NDUFAF4 semapv:UnspecifiedMatching OMIM:611778 GPD1L skos:exactMatch ncbigene:23171 semapv:UnspecifiedMatching OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:GPD1L semapv:UnspecifiedMatching OMIM:611779 FSCB skos:exactMatch hgnc.symbol:FSCB semapv:UnspecifiedMatching @@ -31254,19 +31258,19 @@ OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:MEMO1 semapv:UnspecifiedMatching OMIM:611786 MEMO1 skos:exactMatch ncbigene:51072 semapv:UnspecifiedMatching OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:CMPK2 semapv:UnspecifiedMatching OMIM:611787 CMPK2 skos:exactMatch ncbigene:129607 semapv:UnspecifiedMatching -OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:SLC9B2 semapv:UnspecifiedMatching OMIM:611789 NHEDC2 skos:exactMatch ncbigene:133308 semapv:UnspecifiedMatching -OMIM:611790 MYRIP skos:exactMatch ncbigene:25924 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:SLC9B2 semapv:UnspecifiedMatching OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:MYRIP semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch ncbigene:25924 semapv:UnspecifiedMatching OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:PTCHD3 semapv:UnspecifiedMatching OMIM:611791 PTCHD3 skos:exactMatch ncbigene:374308 semapv:UnspecifiedMatching OMIM:611792 ZCCHC4 skos:exactMatch UMLS:C1427776 semapv:UnspecifiedMatching OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:ZCCHC4 semapv:UnspecifiedMatching OMIM:611792 ZCCHC4 skos:exactMatch ncbigene:29063 semapv:UnspecifiedMatching -OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:LSM12 semapv:UnspecifiedMatching OMIM:611793 LSM12 skos:exactMatch ncbigene:124801 semapv:UnspecifiedMatching -OMIM:611794 MIR369 skos:exactMatch ncbigene:442914 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:LSM12 semapv:UnspecifiedMatching OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:MIR369 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch ncbigene:442914 semapv:UnspecifiedMatching OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:MIR145 semapv:UnspecifiedMatching OMIM:611795 MIR145 skos:exactMatch ncbigene:406937 semapv:UnspecifiedMatching OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:SCG3 semapv:UnspecifiedMatching @@ -31277,18 +31281,18 @@ OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:EFR3A semapv:UnspecifiedMatching OMIM:611798 EFR3A skos:exactMatch ncbigene:23167 semapv:UnspecifiedMatching OMIM:611799 LCORL skos:exactMatch ncbigene:254251 semapv:UnspecifiedMatching OMIM:611799 LCORL skos:exactMatch hgnc.symbol:LCORL semapv:UnspecifiedMatching -OMIM:611800 THADA skos:exactMatch ncbigene:63892 semapv:UnspecifiedMatching OMIM:611800 THADA skos:exactMatch hgnc.symbol:THADA semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch ncbigene:63892 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch UMLS:C1538624 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:PGAP3 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch ncbigene:93210 semapv:UnspecifiedMatching OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:MIEN1 semapv:UnspecifiedMatching OMIM:611802 MIEN1 skos:exactMatch ncbigene:84299 semapv:UnspecifiedMatching -OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:ITFG1 semapv:UnspecifiedMatching OMIM:611803 ITFG1 skos:exactMatch ncbigene:81533 semapv:UnspecifiedMatching -OMIM:611805 ELOVL5 skos:exactMatch ncbigene:60481 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:ITFG1 semapv:UnspecifiedMatching OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:ELOVL5 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch ncbigene:60481 semapv:UnspecifiedMatching OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:AS3MT semapv:UnspecifiedMatching OMIM:611806 AS3MT skos:exactMatch ncbigene:57412 semapv:UnspecifiedMatching OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:TIPRL semapv:UnspecifiedMatching @@ -31297,18 +31301,18 @@ OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:USHBP1 semapv:UnspecifiedMatching OMIM:611810 USHBP1 skos:exactMatch ncbigene:83878 semapv:UnspecifiedMatching OMIM:611811 ZNF333 skos:exactMatch ncbigene:84449 semapv:UnspecifiedMatching OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:ZNF333 semapv:UnspecifiedMatching -OMIM:611813 ELOVL1 skos:exactMatch ncbigene:64834 semapv:UnspecifiedMatching OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:ELOVL1 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch ncbigene:64834 semapv:UnspecifiedMatching OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:ELOVL2 semapv:UnspecifiedMatching OMIM:611814 ELOVL2 skos:exactMatch ncbigene:54898 semapv:UnspecifiedMatching OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:ELOVL3 semapv:UnspecifiedMatching OMIM:611815 ELOVL3 skos:exactMatch ncbigene:83401 semapv:UnspecifiedMatching OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:KLRK1 semapv:UnspecifiedMatching OMIM:611817 KLRK1 skos:exactMatch ncbigene:22914 semapv:UnspecifiedMatching -OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:MRPL1 semapv:UnspecifiedMatching OMIM:611821 MRPL1 skos:exactMatch ncbigene:65008 semapv:UnspecifiedMatching -OMIM:611822 MRPL2 skos:exactMatch ncbigene:51069 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:MRPL1 semapv:UnspecifiedMatching OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:MRPL2 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch ncbigene:51069 semapv:UnspecifiedMatching OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:MRPL4 semapv:UnspecifiedMatching OMIM:611823 MRPL4 skos:exactMatch ncbigene:51073 semapv:UnspecifiedMatching OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:MRPL9 semapv:UnspecifiedMatching @@ -31355,43 +31359,43 @@ OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:MRPL38 semapv:UnspecifiedMatching OMIM:611844 MRPL38 skos:exactMatch ncbigene:64978 semapv:UnspecifiedMatching OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:MRPL39 semapv:UnspecifiedMatching OMIM:611845 MRPL39 skos:exactMatch ncbigene:54148 semapv:UnspecifiedMatching -OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:MRPL41 semapv:UnspecifiedMatching OMIM:611846 MRPL41 skos:exactMatch ncbigene:64975 semapv:UnspecifiedMatching -OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:MRPL42 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:MRPL41 semapv:UnspecifiedMatching OMIM:611847 MRPL42 skos:exactMatch ncbigene:28977 semapv:UnspecifiedMatching -OMIM:611848 MRPL43 skos:exactMatch ncbigene:84545 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:MRPL42 semapv:UnspecifiedMatching OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:MRPL43 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch ncbigene:84545 semapv:UnspecifiedMatching OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:MRPL44 semapv:UnspecifiedMatching OMIM:611849 MRPL44 skos:exactMatch ncbigene:65080 semapv:UnspecifiedMatching OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:MRPL45 semapv:UnspecifiedMatching OMIM:611850 MRPL45 skos:exactMatch ncbigene:84311 semapv:UnspecifiedMatching OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:MRPL46 semapv:UnspecifiedMatching OMIM:611851 MRPL46 skos:exactMatch ncbigene:26589 semapv:UnspecifiedMatching -OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:MRPL47 semapv:UnspecifiedMatching OMIM:611852 MRPL47 skos:exactMatch ncbigene:57129 semapv:UnspecifiedMatching -OMIM:611853 MRPL48 skos:exactMatch ncbigene:51642 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:MRPL47 semapv:UnspecifiedMatching OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:MRPL48 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch ncbigene:51642 semapv:UnspecifiedMatching OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:MRPL50 semapv:UnspecifiedMatching OMIM:611854 MRPL50 skos:exactMatch ncbigene:54534 semapv:UnspecifiedMatching OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:MRPL51 semapv:UnspecifiedMatching OMIM:611855 MRPL51 skos:exactMatch ncbigene:51258 semapv:UnspecifiedMatching OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:MRPL52 semapv:UnspecifiedMatching OMIM:611856 MRPL52 skos:exactMatch ncbigene:122704 semapv:UnspecifiedMatching -OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:MRPL53 semapv:UnspecifiedMatching OMIM:611857 MRPL53 skos:exactMatch ncbigene:116540 semapv:UnspecifiedMatching -OMIM:611858 MRPL54 skos:exactMatch ncbigene:116541 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:MRPL53 semapv:UnspecifiedMatching OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:MRPL54 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch ncbigene:116541 semapv:UnspecifiedMatching OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:MRPL55 semapv:UnspecifiedMatching OMIM:611859 MRPL55 skos:exactMatch ncbigene:128308 semapv:UnspecifiedMatching OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:ADPGK semapv:UnspecifiedMatching OMIM:611861 ADPGK skos:exactMatch ncbigene:83440 semapv:UnspecifiedMatching -OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching OMIM:611864 ARMC10 skos:exactMatch ncbigene:83787 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch ncbigene:83746 semapv:UnspecifiedMatching OMIM:611865 L3MBTL2 skos:exactMatch UMLS:C1425632 semapv:UnspecifiedMatching OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:L3MBTL2 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch ncbigene:83746 semapv:UnspecifiedMatching -OMIM:611866 RBP5 skos:exactMatch ncbigene:83758 semapv:UnspecifiedMatching OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:RBP5 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch ncbigene:83758 semapv:UnspecifiedMatching OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:RABEP2 semapv:UnspecifiedMatching @@ -31479,10 +31483,10 @@ OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:GJA9 semapv:UnspecifiedMatching OMIM:611923 GJA9 skos:exactMatch ncbigene:81025 semapv:UnspecifiedMatching OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:GJA10 semapv:UnspecifiedMatching OMIM:611924 GJA10 skos:exactMatch ncbigene:84694 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:GJC3 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611925 GJC3 skos:exactMatch ncbigene:349149 semapv:UnspecifiedMatching OMIM:611925 GJC3 skos:exactMatch UMLS:C2677835 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:GJC3 semapv:UnspecifiedMatching OMIM:611927 FAM83H skos:exactMatch ncbigene:286077 semapv:UnspecifiedMatching OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:FAM83H semapv:UnspecifiedMatching OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:ISG20L2 semapv:UnspecifiedMatching @@ -31501,8 +31505,8 @@ OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:IGHV3-23 semapv:UnspecifiedMatc OMIM:611939 IGHV3-23 skos:exactMatch ncbigene:28442 semapv:UnspecifiedMatching OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:MBOAT4 semapv:UnspecifiedMatching OMIM:611940 MBOAT4 skos:exactMatch ncbigene:619373 semapv:UnspecifiedMatching -OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:ATAD2 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch ncbigene:80700 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:UBXN6 semapv:UnspecifiedMatching OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:NLRX1 semapv:UnspecifiedMatching @@ -31511,8 +31515,8 @@ OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:MBOAT2 semapv:UnspecifiedMatching OMIM:611949 MBOAT2 skos:exactMatch ncbigene:129642 semapv:UnspecifiedMatching OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:LPCAT3 semapv:UnspecifiedMatching OMIM:611950 LPCAT3 skos:exactMatch ncbigene:10162 semapv:UnspecifiedMatching -OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:B9D2 semapv:UnspecifiedMatching OMIM:611951 B9D2 skos:exactMatch ncbigene:80776 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:B9D2 semapv:UnspecifiedMatching OMIM:611952 VPS28 skos:exactMatch ncbigene:51160 semapv:UnspecifiedMatching OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:VPS28 semapv:UnspecifiedMatching OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:MIR373 semapv:UnspecifiedMatching @@ -31525,28 +31529,28 @@ OMIM:611962 hunter-macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:Unspe OMIM:611963 acyl-coa thioesterase 7-like skos:exactMatch ncbigene:344967 semapv:UnspecifiedMatching OMIM:611964 CYB5B skos:exactMatch ncbigene:80777 semapv:UnspecifiedMatching OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:CYB5B semapv:UnspecifiedMatching -OMIM:611965 THOC7 skos:exactMatch ncbigene:80145 semapv:UnspecifiedMatching OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:THOC7 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch ncbigene:80145 semapv:UnspecifiedMatching OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:TRAPPC9 semapv:UnspecifiedMatching OMIM:611966 TRAPPC9 skos:exactMatch ncbigene:83696 semapv:UnspecifiedMatching OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:KLHL8 semapv:UnspecifiedMatching OMIM:611967 KLHL8 skos:exactMatch ncbigene:57563 semapv:UnspecifiedMatching OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:CSTF2T semapv:UnspecifiedMatching OMIM:611968 CSTF2T skos:exactMatch ncbigene:23283 semapv:UnspecifiedMatching -OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:MOB2 semapv:UnspecifiedMatching OMIM:611969 MOB2 skos:exactMatch ncbigene:81532 semapv:UnspecifiedMatching -OMIM:611970 NIFK skos:exactMatch ncbigene:84365 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:MOB2 semapv:UnspecifiedMatching OMIM:611970 NIFK skos:exactMatch hgnc.symbol:NIFK semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch ncbigene:84365 semapv:UnspecifiedMatching OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:MRPS2 semapv:UnspecifiedMatching OMIM:611971 MRPS2 skos:exactMatch ncbigene:51116 semapv:UnspecifiedMatching OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:MRPS5 semapv:UnspecifiedMatching OMIM:611972 MRPS5 skos:exactMatch ncbigene:64969 semapv:UnspecifiedMatching -OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:MRPS6 semapv:UnspecifiedMatching OMIM:611973 MRPS6 skos:exactMatch ncbigene:64968 semapv:UnspecifiedMatching -OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:MRPS7 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:MRPS6 semapv:UnspecifiedMatching OMIM:611974 MRPS7 skos:exactMatch ncbigene:51081 semapv:UnspecifiedMatching -OMIM:611975 MRPS9 skos:exactMatch ncbigene:64965 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:MRPS7 semapv:UnspecifiedMatching OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:MRPS9 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch ncbigene:64965 semapv:UnspecifiedMatching OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:MRPS10 semapv:UnspecifiedMatching OMIM:611976 MRPS10 skos:exactMatch ncbigene:55173 semapv:UnspecifiedMatching OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:MRPS11 semapv:UnspecifiedMatching @@ -31555,8 +31559,8 @@ OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:MRPS14 semapv:UnspecifiedMatching OMIM:611978 MRPS14 skos:exactMatch ncbigene:63931 semapv:UnspecifiedMatching OMIM:611979 MRPS15 skos:exactMatch ncbigene:64960 semapv:UnspecifiedMatching OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:MRPS15 semapv:UnspecifiedMatching -OMIM:611980 MRPS17 skos:exactMatch ncbigene:51373 semapv:UnspecifiedMatching OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:MRPS17 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch ncbigene:51373 semapv:UnspecifiedMatching OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:MRPS18A semapv:UnspecifiedMatching OMIM:611981 MRPS18A skos:exactMatch ncbigene:55168 semapv:UnspecifiedMatching OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:MRPS18B semapv:UnspecifiedMatching @@ -31565,20 +31569,20 @@ OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:MRPS18C semapv:UnspecifiedMatchi OMIM:611983 MRPS18C skos:exactMatch ncbigene:51023 semapv:UnspecifiedMatching OMIM:611984 MRPS21 skos:exactMatch ncbigene:54460 semapv:UnspecifiedMatching OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:MRPS21 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:MRPS23 semapv:UnspecifiedMatching OMIM:611985 MRPS23 skos:exactMatch ncbigene:51649 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch UMLS:C1422714 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:MRPS23 semapv:UnspecifiedMatching OMIM:611985 MRPS23 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch UMLS:C1422714 semapv:UnspecifiedMatching OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:MRPS24 semapv:UnspecifiedMatching OMIM:611986 MRPS24 skos:exactMatch ncbigene:64951 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch UMLS:C1422716 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:MRPS25 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch ncbigene:64432 semapv:UnspecifiedMatching -OMIM:611988 MRPS26 skos:exactMatch ncbigene:64949 semapv:UnspecifiedMatching OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:MRPS26 semapv:UnspecifiedMatching -OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:MRPS27 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch ncbigene:64949 semapv:UnspecifiedMatching OMIM:611989 MRPS27 skos:exactMatch ncbigene:23107 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:MRPS27 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch UMLS:C1422718 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:MRPS28 semapv:UnspecifiedMatching @@ -31605,12 +31609,12 @@ OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:TRIM66 semapv:UnspecifiedMatching OMIM:612000 TRIM66 skos:exactMatch ncbigene:9866 semapv:UnspecifiedMatching OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch UMLS:C2677613 semapv:UnspecifiedMatching OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching -OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:DEPDC1 semapv:UnspecifiedMatching OMIM:612002 DEPDC1 skos:exactMatch ncbigene:55635 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:DEPDC1 semapv:UnspecifiedMatching OMIM:612003 GIGYF2 skos:exactMatch ncbigene:26058 semapv:UnspecifiedMatching OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:GIGYF2 semapv:UnspecifiedMatching -OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:ZFYVE26 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2240338 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching @@ -31626,58 +31630,58 @@ OMIM:612019 ISX skos:exactMatch hgnc.symbol:ISX semapv:UnspecifiedMatching OMIM:612019 ISX skos:exactMatch ncbigene:91464 semapv:UnspecifiedMatching OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:OTUD6B semapv:UnspecifiedMatching OMIM:612021 OTUD6B skos:exactMatch ncbigene:51633 semapv:UnspecifiedMatching -OMIM:612022 OTUD1 skos:exactMatch ncbigene:220213 semapv:UnspecifiedMatching OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:OTUD1 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:YOD1 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch ncbigene:220213 semapv:UnspecifiedMatching OMIM:612023 YOD1 skos:exactMatch ncbigene:55432 semapv:UnspecifiedMatching OMIM:612023 YOD1 skos:exactMatch UMLS:C1823894 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:YOD1 semapv:UnspecifiedMatching OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:OTUD7A semapv:UnspecifiedMatching OMIM:612024 OTUD7A skos:exactMatch ncbigene:161725 semapv:UnspecifiedMatching OMIM:612025 IYD skos:exactMatch hgnc.symbol:IYD semapv:UnspecifiedMatching OMIM:612025 IYD skos:exactMatch ncbigene:389434 semapv:UnspecifiedMatching OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:LARP7 semapv:UnspecifiedMatching OMIM:612026 LARP7 skos:exactMatch ncbigene:51574 semapv:UnspecifiedMatching -OMIM:612027 TAMALIN skos:exactMatch ncbigene:160622 semapv:UnspecifiedMatching OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:TAMALIN semapv:UnspecifiedMatching -OMIM:612028 FITM1 skos:exactMatch ncbigene:161247 semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch ncbigene:160622 semapv:UnspecifiedMatching OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:FITM1 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch ncbigene:161247 semapv:UnspecifiedMatching OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:FITM2 semapv:UnspecifiedMatching OMIM:612029 FITM2 skos:exactMatch ncbigene:128486 semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch hgnc.symbol:INHBE semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch ncbigene:83729 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch UMLS:C2239360 semapv:UnspecifiedMatching OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:DPY30 semapv:UnspecifiedMatching OMIM:612032 DPY30 skos:exactMatch ncbigene:84661 semapv:UnspecifiedMatching -OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:PAGR1 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch UMLS:C2239360 semapv:UnspecifiedMatching OMIM:612033 PAGR1 skos:exactMatch ncbigene:79447 semapv:UnspecifiedMatching -OMIM:612034 APC2 skos:exactMatch ncbigene:10297 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:PAGR1 semapv:UnspecifiedMatching OMIM:612034 APC2 skos:exactMatch hgnc.symbol:APC2 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch ncbigene:10297 semapv:UnspecifiedMatching OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:AARS2 semapv:UnspecifiedMatching OMIM:612035 AARS2 skos:exactMatch ncbigene:57505 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch UMLS:C1826544 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:PARS2 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch ncbigene:25973 semapv:UnspecifiedMatching -OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:MUL1 semapv:UnspecifiedMatching OMIM:612037 MUL1 skos:exactMatch ncbigene:79594 semapv:UnspecifiedMatching -OMIM:612038 TMED4 skos:exactMatch ncbigene:222068 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:MUL1 semapv:UnspecifiedMatching OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:TMED4 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch ncbigene:222068 semapv:UnspecifiedMatching OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:LPCAT4 semapv:UnspecifiedMatching OMIM:612039 AGPAT7 skos:exactMatch ncbigene:254531 semapv:UnspecifiedMatching OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:LPCAT2 semapv:UnspecifiedMatching OMIM:612040 LPCAT2 skos:exactMatch ncbigene:54947 semapv:UnspecifiedMatching OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:RNF212 semapv:UnspecifiedMatching OMIM:612041 RNF212 skos:exactMatch ncbigene:285498 semapv:UnspecifiedMatching -OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:MIR371A semapv:UnspecifiedMatching OMIM:612043 MIR371A skos:exactMatch ncbigene:442916 semapv:UnspecifiedMatching -OMIM:612044 MIRN372 skos:exactMatch ncbigene:442917 semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:MIR371A semapv:UnspecifiedMatching OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:MIR372 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch ncbigene:442917 semapv:UnspecifiedMatching OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:C1QTNF3 semapv:UnspecifiedMatching OMIM:612045 C1QTNF3 skos:exactMatch ncbigene:114899 semapv:UnspecifiedMatching OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:E2F7 semapv:UnspecifiedMatching OMIM:612046 E2F7 skos:exactMatch ncbigene:144455 semapv:UnspecifiedMatching -OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:E2F8 semapv:UnspecifiedMatching OMIM:612047 E2F8 skos:exactMatch ncbigene:79733 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:E2F8 semapv:UnspecifiedMatching OMIM:612048 TMEM43 skos:exactMatch ncbigene:79188 semapv:UnspecifiedMatching OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:TMEM43 semapv:UnspecifiedMatching OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:RIOX2 semapv:UnspecifiedMatching @@ -31691,8 +31695,8 @@ OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:ZFP36L2 semapv:UnspecifiedMatchi OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:CNOT9 semapv:UnspecifiedMatching OMIM:612054 CNOT9 skos:exactMatch ncbigene:9125 semapv:UnspecifiedMatching OMIM:612054 CNOT9 skos:exactMatch UMLS:C1419755 semapv:UnspecifiedMatching -OMIM:612055 RPS27L skos:exactMatch ncbigene:51065 semapv:UnspecifiedMatching OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:RPS27L semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch ncbigene:51065 semapv:UnspecifiedMatching OMIM:612056 GET4 skos:exactMatch hgnc.symbol:GET4 semapv:UnspecifiedMatching OMIM:612056 GET4 skos:exactMatch ncbigene:51608 semapv:UnspecifiedMatching OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:SAPCD2 semapv:UnspecifiedMatching @@ -31718,8 +31722,8 @@ OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:PARP15 semapv:UnspecifiedMatching OMIM:612066 PARP15 skos:exactMatch ncbigene:165631 semapv:UnspecifiedMatching OMIM:612068 PIRT skos:exactMatch hgnc.symbol:PIRT semapv:UnspecifiedMatching OMIM:612068 PIRT skos:exactMatch ncbigene:644139 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:MIR144 semapv:UnspecifiedMatching OMIM:612070 MIRN144 skos:exactMatch ncbigene:406936 semapv:UnspecifiedMatching @@ -31730,8 +31734,8 @@ OMIM:612072 MIF4GD skos:exactMatch ncbigene:57409 semapv:UnspecifiedMatching OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:RBM28 semapv:UnspecifiedMatching OMIM:612074 RBM28 skos:exactMatch ncbigene:55131 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching @@ -31740,29 +31744,29 @@ OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677551 semapv:Unspecif OMIM:612076 hypouricemia, renal, 2 skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:MIR22 semapv:UnspecifiedMatching OMIM:612077 MIR22 skos:exactMatch ncbigene:407004 semapv:UnspecifiedMatching -OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:ZNF469 semapv:UnspecifiedMatching OMIM:612078 ZNF469 skos:exactMatch ncbigene:84627 semapv:UnspecifiedMatching -OMIM:612080 UQCRQ skos:exactMatch ncbigene:27089 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:ZNF469 semapv:UnspecifiedMatching OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:UQCRQ semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch ncbigene:27089 semapv:UnspecifiedMatching OMIM:612081 IL34 skos:exactMatch hgnc.symbol:IL34 semapv:UnspecifiedMatching OMIM:612081 IL34 skos:exactMatch ncbigene:146433 semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch hgnc.symbol:CIC semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch ncbigene:23152 semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:SLC51A semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch ncbigene:200931 semapv:UnspecifiedMatching -OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:SLC51B semapv:UnspecifiedMatching OMIM:612085 SLC51B skos:exactMatch ncbigene:123264 semapv:UnspecifiedMatching -OMIM:612086 HMSD skos:exactMatch ncbigene:284293 semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:SLC51B semapv:UnspecifiedMatching OMIM:612086 HMSD skos:exactMatch hgnc.symbol:HMSD semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch ncbigene:284293 semapv:UnspecifiedMatching OMIM:612087 CLEC2A skos:exactMatch UMLS:C1539087 semapv:UnspecifiedMatching OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:CLEC2A semapv:UnspecifiedMatching OMIM:612087 CLEC2A skos:exactMatch ncbigene:387836 semapv:UnspecifiedMatching OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:CLEC12A semapv:UnspecifiedMatching OMIM:612088 CLEC12A skos:exactMatch ncbigene:160364 semapv:UnspecifiedMatching -OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching OMIM:612090 MIR200A skos:exactMatch ncbigene:406983 semapv:UnspecifiedMatching -OMIM:612091 MIRN200B skos:exactMatch ncbigene:406984 semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:MIR200B semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch ncbigene:406984 semapv:UnspecifiedMatching OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:MIR200C semapv:UnspecifiedMatching OMIM:612092 MIR200C skos:exactMatch ncbigene:406985 semapv:UnspecifiedMatching OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:MIR141 semapv:UnspecifiedMatching @@ -31771,10 +31775,10 @@ OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:MIR429 semapv:UnspecifiedMatchin OMIM:612094 MIRN429 skos:exactMatch ncbigene:554210 semapv:UnspecifiedMatching OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:PI4K2B semapv:UnspecifiedMatching OMIM:612101 PI4K2B skos:exactMatch ncbigene:55300 semapv:UnspecifiedMatching -OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching OMIM:612102 MIRNLET7G skos:exactMatch ncbigene:406890 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching OMIM:612104 OBFC2B skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching OMIM:612105 KLLN skos:exactMatch hgnc.symbol:KLLN semapv:UnspecifiedMatching @@ -31789,8 +31793,8 @@ OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:TNFAIP8L2 semapv:UnspecifiedMa OMIM:612112 TNFAIP8L2 skos:exactMatch ncbigene:79626 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:ARHGEF3 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch ncbigene:50650 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch hgnc.symbol:USP22 semapv:UnspecifiedMatching OMIM:612116 USP22 skos:exactMatch UMLS:C1421400 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch hgnc.symbol:USP22 semapv:UnspecifiedMatching OMIM:612116 USP22 skos:exactMatch ncbigene:23326 semapv:UnspecifiedMatching OMIM:612117 MIR143 skos:exactMatch ncbigene:406935 semapv:UnspecifiedMatching OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:MIR143 semapv:UnspecifiedMatching @@ -31854,87 +31858,87 @@ OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:MIR25 semapv:UnspecifiedMatching OMIM:612150 MIR25 skos:exactMatch ncbigene:407014 semapv:UnspecifiedMatching OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:MIR26A1 semapv:UnspecifiedMatching OMIM:612151 MIR26A1 skos:exactMatch ncbigene:407015 semapv:UnspecifiedMatching -OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:MIR26B semapv:UnspecifiedMatching OMIM:612152 MIR26B skos:exactMatch ncbigene:407017 semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:MIR26B semapv:UnspecifiedMatching OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:MIR27A semapv:UnspecifiedMatching OMIM:612153 MIR27A skos:exactMatch ncbigene:407018 semapv:UnspecifiedMatching OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:MIR28 semapv:UnspecifiedMatching OMIM:612154 MIR28 skos:exactMatch ncbigene:407020 semapv:UnspecifiedMatching -OMIM:612155 MIR31 skos:exactMatch ncbigene:407035 semapv:UnspecifiedMatching OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:MIR31 semapv:UnspecifiedMatching -OMIM:612156 MIR33A skos:exactMatch ncbigene:407039 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch ncbigene:407035 semapv:UnspecifiedMatching OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:MIR33A semapv:UnspecifiedMatching -OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:SENP1 semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch ncbigene:407039 semapv:UnspecifiedMatching OMIM:612157 SENP1 skos:exactMatch ncbigene:29843 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:SENP1 semapv:UnspecifiedMatching OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:RPH3A semapv:UnspecifiedMatching OMIM:612159 RPH3A skos:exactMatch ncbigene:22895 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:TPCN2 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch ncbigene:219931 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:SLC39A2 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch ncbigene:29986 semapv:UnspecifiedMatching -OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:WDR48 semapv:UnspecifiedMatching OMIM:612167 WDR48 skos:exactMatch ncbigene:57599 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:WDR48 semapv:UnspecifiedMatching OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:SLC39A3 semapv:UnspecifiedMatching OMIM:612168 SLC39A3 skos:exactMatch ncbigene:29985 semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:FCGR2C semapv:UnspecifiedMatching OMIM:612169 FCGR2C skos:exactMatch UMLS:C1521989 semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:FCGR2C semapv:UnspecifiedMatching OMIM:612169 FCGR2C skos:exactMatch ncbigene:9103 semapv:UnspecifiedMatching -OMIM:612170 MUC19 skos:exactMatch ncbigene:283463 semapv:UnspecifiedMatching OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:MUC19 semapv:UnspecifiedMatching -OMIM:612171 RPRM skos:exactMatch hgnc.symbol:RPRM semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch ncbigene:283463 semapv:UnspecifiedMatching OMIM:612171 RPRM skos:exactMatch ncbigene:56475 semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch hgnc.symbol:RPRM semapv:UnspecifiedMatching OMIM:612172 DDX23 skos:exactMatch UMLS:C1424920 semapv:UnspecifiedMatching OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:DDX23 semapv:UnspecifiedMatching OMIM:612172 DDX23 skos:exactMatch ncbigene:9416 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch ncbigene:79582 semapv:UnspecifiedMatching OMIM:612173 SPAG16 skos:exactMatch UMLS:C1539808 semapv:UnspecifiedMatching OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:SPAG16 semapv:UnspecifiedMatching -OMIM:612174 CAB39 skos:exactMatch ncbigene:51719 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch ncbigene:79582 semapv:UnspecifiedMatching OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:CAB39 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch ncbigene:51719 semapv:UnspecifiedMatching OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:CAB39L semapv:UnspecifiedMatching OMIM:612175 CAB39L skos:exactMatch ncbigene:81617 semapv:UnspecifiedMatching OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:MYSM1 semapv:UnspecifiedMatching OMIM:612176 MYSM1 skos:exactMatch ncbigene:114803 semapv:UnspecifiedMatching -OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:RN7SL1 semapv:UnspecifiedMatching OMIM:612177 RN7SL1 skos:exactMatch ncbigene:6029 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:RN7SL1 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch ncbigene:113802 semapv:UnspecifiedMatching OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:HENMT1 semapv:UnspecifiedMatching OMIM:612178 HENMT1 skos:exactMatch UMLS:C1823206 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch ncbigene:113802 semapv:UnspecifiedMatching -OMIM:612179 RN7SL2 skos:exactMatch ncbigene:378706 semapv:UnspecifiedMatching OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:RN7SL2 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch ncbigene:378706 semapv:UnspecifiedMatching OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:RN7SL3 semapv:UnspecifiedMatching OMIM:612180 RN7SL3 skos:exactMatch ncbigene:378707 semapv:UnspecifiedMatching OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:MUC13 semapv:UnspecifiedMatching OMIM:612181 MUC13 skos:exactMatch ncbigene:56667 semapv:UnspecifiedMatching -OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:NAT2 semapv:UnspecifiedMatching OMIM:612182 NAT2 skos:exactMatch ncbigene:10 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:NAT2 semapv:UnspecifiedMatching OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:GPR176 semapv:UnspecifiedMatching OMIM:612183 GPR176 skos:exactMatch ncbigene:11245 semapv:UnspecifiedMatching -OMIM:612184 CASKIN1 skos:exactMatch ncbigene:57524 semapv:UnspecifiedMatching OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:CASKIN1 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch ncbigene:57524 semapv:UnspecifiedMatching OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:CASKIN2 semapv:UnspecifiedMatching OMIM:612185 CASKIN2 skos:exactMatch ncbigene:57513 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C1414090 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:DMXL2 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch ncbigene:23312 semapv:UnspecifiedMatching -OMIM:612187 heme-responsive gene 1 skos:exactMatch ncbigene:55652 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C1414090 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching OMIM:612187 heme-responsive gene 1 skos:exactMatch hgnc.symbol:SLC48A1 semapv:UnspecifiedMatching +OMIM:612187 heme-responsive gene 1 skos:exactMatch ncbigene:55652 semapv:UnspecifiedMatching OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:VPS39 semapv:UnspecifiedMatching OMIM:612188 VPS39 skos:exactMatch ncbigene:23339 semapv:UnspecifiedMatching OMIM:612189 PBLD skos:exactMatch hgnc.symbol:PBLD semapv:UnspecifiedMatching OMIM:612189 PBLD skos:exactMatch ncbigene:64081 semapv:UnspecifiedMatching OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:MLST8 semapv:UnspecifiedMatching OMIM:612190 MLST8 skos:exactMatch ncbigene:64223 semapv:UnspecifiedMatching -OMIM:612191 MSMP skos:exactMatch hgnc.symbol:MSMP semapv:UnspecifiedMatching OMIM:612191 MSMP skos:exactMatch ncbigene:692094 semapv:UnspecifiedMatching -OMIM:612192 ZFP57 skos:exactMatch ncbigene:346171 semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch hgnc.symbol:MSMP semapv:UnspecifiedMatching OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:ZFP57 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch ncbigene:346171 semapv:UnspecifiedMatching OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:CMYA5 semapv:UnspecifiedMatching OMIM:612193 CMYA5 skos:exactMatch ncbigene:202333 semapv:UnspecifiedMatching OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:RRAGA semapv:UnspecifiedMatching @@ -31942,33 +31946,33 @@ OMIM:612194 RRAGA skos:exactMatch ncbigene:10670 semapv:UnspecifiedMatching OMIM:612195 ABHD1 skos:exactMatch UMLS:C1424994 semapv:UnspecifiedMatching OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:ABHD1 semapv:UnspecifiedMatching OMIM:612195 ABHD1 skos:exactMatch ncbigene:84696 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:ABHD2 semapv:UnspecifiedMatching OMIM:612196 ABHD2 skos:exactMatch ncbigene:11057 semapv:UnspecifiedMatching OMIM:612196 ABHD2 skos:exactMatch UMLS:C1425733 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch ncbigene:171586 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:ABHD3 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:ABHD2 semapv:UnspecifiedMatching OMIM:612197 ABHD3 skos:exactMatch UMLS:C1425734 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:ABHD3 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch ncbigene:171586 semapv:UnspecifiedMatching OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:DIPK2A semapv:UnspecifiedMatching OMIM:612200 DIPK2A skos:exactMatch ncbigene:205428 semapv:UnspecifiedMatching OMIM:612202 SOX7 skos:exactMatch UMLS:C1425372 semapv:UnspecifiedMatching OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:SOX7 semapv:UnspecifiedMatching OMIM:612202 SOX7 skos:exactMatch ncbigene:83595 semapv:UnspecifiedMatching -OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:NAP1L5 semapv:UnspecifiedMatching OMIM:612203 NAP1L5 skos:exactMatch ncbigene:266812 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:NAP1L5 semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch UMLS:C1825499 semapv:UnspecifiedMatching OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:ATG9A semapv:UnspecifiedMatching OMIM:612204 ATG9A skos:exactMatch ncbigene:79065 semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch UMLS:C1825499 semapv:UnspecifiedMatching OMIM:612205 ATG9B skos:exactMatch UMLS:C1825500 semapv:UnspecifiedMatching OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:ATG9B semapv:UnspecifiedMatching OMIM:612205 ATG9B skos:exactMatch ncbigene:285973 semapv:UnspecifiedMatching OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:FJX1 semapv:UnspecifiedMatching OMIM:612206 FJX1 skos:exactMatch ncbigene:24147 semapv:UnspecifiedMatching -OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:GOLPH3 semapv:UnspecifiedMatching OMIM:612207 GOLPH3 skos:exactMatch ncbigene:64083 semapv:UnspecifiedMatching -OMIM:612208 GOLPH3L skos:exactMatch ncbigene:55204 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:GOLPH3 semapv:UnspecifiedMatching OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:GOLPH3L semapv:UnspecifiedMatching -OMIM:612209 MSGN1 skos:exactMatch ncbigene:343930 semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch ncbigene:55204 semapv:UnspecifiedMatching OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:MSGN1 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch ncbigene:343930 semapv:UnspecifiedMatching OMIM:612210 HULC skos:exactMatch hgnc.symbol:HULC semapv:UnspecifiedMatching OMIM:612210 HULC skos:exactMatch ncbigene:728655 semapv:UnspecifiedMatching OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:TRARG1 semapv:UnspecifiedMatching @@ -31977,292 +31981,292 @@ OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:PLGLA semapv:UnspecifiedMatching OMIM:612212 PLGLA skos:exactMatch ncbigene:285189 semapv:UnspecifiedMatching OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:BSPH1 semapv:UnspecifiedMatching OMIM:612213 BSPH1 skos:exactMatch ncbigene:100131137 semapv:UnspecifiedMatching -OMIM:612214 RGL4 skos:exactMatch ncbigene:266747 semapv:UnspecifiedMatching OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:RGL4 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch ncbigene:266747 semapv:UnspecifiedMatching OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:SNHG6 semapv:UnspecifiedMatching OMIM:612215 SNHG6 skos:exactMatch ncbigene:641638 semapv:UnspecifiedMatching -OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:SNORD87 semapv:UnspecifiedMatching OMIM:612216 SNORD87 skos:exactMatch ncbigene:641648 semapv:UnspecifiedMatching -OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:ILRUN semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:SNORD87 semapv:UnspecifiedMatching OMIM:612217 ILRUN skos:exactMatch ncbigene:64771 semapv:UnspecifiedMatching -OMIM:612218 ZBTB38 skos:exactMatch ncbigene:253461 semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:ILRUN semapv:UnspecifiedMatching OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:ZBTB38 semapv:UnspecifiedMatching -OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch ncbigene:253461 semapv:UnspecifiedMatching OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:B4GALNT3 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch hgnc.symbol:GALNS semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch ncbigene:2588 semapv:UnspecifiedMatching OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:CALHM1 semapv:UnspecifiedMatching OMIM:612234 CALHM1 skos:exactMatch ncbigene:255022 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch UMLS:C1539417 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:CALHM2 semapv:UnspecifiedMatching OMIM:612235 CALHM2 skos:exactMatch ncbigene:51063 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:CALHM2 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch UMLS:C1539417 semapv:UnspecifiedMatching OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:ERGIC2 semapv:UnspecifiedMatching OMIM:612236 ERGIC2 skos:exactMatch ncbigene:51290 semapv:UnspecifiedMatching -OMIM:612243 ADGRG6 skos:exactMatch ncbigene:57211 semapv:UnspecifiedMatching OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:ADGRG6 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch ncbigene:57211 semapv:UnspecifiedMatching OMIM:612246 CD302 skos:exactMatch hgnc.symbol:CD302 semapv:UnspecifiedMatching OMIM:612246 CD302 skos:exactMatch ncbigene:9936 semapv:UnspecifiedMatching OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:ZNF627 semapv:UnspecifiedMatching OMIM:612248 ZNF627 skos:exactMatch ncbigene:199692 semapv:UnspecifiedMatching -OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:THSD7A semapv:UnspecifiedMatching OMIM:612249 THSD7A skos:exactMatch ncbigene:221981 semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:THSD7A semapv:UnspecifiedMatching OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:GPR161 semapv:UnspecifiedMatching OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch ncbigene:23432 semapv:UnspecifiedMatching -OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:CLEC9A semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:MAST1 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch ncbigene:22983 semapv:UnspecifiedMatching OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:MAST2 semapv:UnspecifiedMatching OMIM:612257 MAST2 skos:exactMatch ncbigene:23139 semapv:UnspecifiedMatching -OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching OMIM:612258 MAST3 skos:exactMatch ncbigene:23031 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching -OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:MRC2 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:FAM120A semapv:UnspecifiedMatching OMIM:612265 FAM120A skos:exactMatch ncbigene:23196 semapv:UnspecifiedMatching OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:FAM120B semapv:UnspecifiedMatching OMIM:612266 FAM120B skos:exactMatch ncbigene:84498 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch ncbigene:23093 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:TTLL5 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch UMLS:C1823540 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch UMLS:C4014501 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:TTLL5 semapv:UnspecifiedMatching -OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:CDCA4 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:GGNBP2 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch ncbigene:79893 semapv:UnspecifiedMatching OMIM:612276 YRDC skos:exactMatch hgnc.symbol:YRDC semapv:UnspecifiedMatching OMIM:612276 YRDC skos:exactMatch ncbigene:79693 semapv:UnspecifiedMatching -OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMatching OMIM:612277 ADAMTSL2 skos:exactMatch ncbigene:9719 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:FUCA1 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch ncbigene:2517 semapv:UnspecifiedMatching -OMIM:612282 ZNF804A skos:exactMatch ncbigene:91752 semapv:UnspecifiedMatching OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:ZNF804A semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch ncbigene:91752 semapv:UnspecifiedMatching OMIM:612283 PROC skos:exactMatch hgnc.symbol:PROC semapv:UnspecifiedMatching OMIM:612283 PROC skos:exactMatch ncbigene:5624 semapv:UnspecifiedMatching -OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching OMIM:612285 joubert syndrome 9 skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching -OMIM:612291 joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching +OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching OMIM:612291 joubert syndrome 8 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:612291 joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching OMIM:612292 birk-barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching OMIM:612292 birk-barel syndrome skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching -OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:DEPDC7 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching OMIM:612295 ARL14EP skos:exactMatch UMLS:C1824313 semapv:UnspecifiedMatching OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:ARL14EP semapv:UnspecifiedMatching OMIM:612295 ARL14EP skos:exactMatch ncbigene:120534 semapv:UnspecifiedMatching -OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:LINC00294 semapv:UnspecifiedMatching OMIM:612296 LINC00294 skos:exactMatch ncbigene:283267 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:LINC00294 semapv:UnspecifiedMatching OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:KIAA1549L semapv:UnspecifiedMatching OMIM:612297 C11ORF41 skos:exactMatch ncbigene:25758 semapv:UnspecifiedMatching OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:TRIM44 semapv:UnspecifiedMatching OMIM:612298 TRIM44 skos:exactMatch ncbigene:54765 semapv:UnspecifiedMatching -OMIM:612299 COMMD9 skos:exactMatch ncbigene:29099 semapv:UnspecifiedMatching OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:COMMD9 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch ncbigene:29099 semapv:UnspecifiedMatching OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:ADGRA1 semapv:UnspecifiedMatching OMIM:612302 ADGRA1 skos:exactMatch ncbigene:84435 semapv:UnspecifiedMatching OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:ADGRA3 semapv:UnspecifiedMatching OMIM:612303 ADGRA3 skos:exactMatch ncbigene:166647 semapv:UnspecifiedMatching -OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching OMIM:612305 ADGRE4P skos:exactMatch ncbigene:326342 semapv:UnspecifiedMatching -OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:ADGRG7 semapv:UnspecifiedMatching -OMIM:612308 ZBTB4 skos:exactMatch ncbigene:57659 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:ZBTB4 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch ncbigene:57659 semapv:UnspecifiedMatching OMIM:612309 F5 skos:exactMatch hgnc.symbol:F5 semapv:UnspecifiedMatching OMIM:612309 F5 skos:exactMatch ncbigene:2153 semapv:UnspecifiedMatching OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:GSTO2 semapv:UnspecifiedMatching OMIM:612314 GSTO2 skos:exactMatch ncbigene:119391 semapv:UnspecifiedMatching -OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:KRT6C semapv:UnspecifiedMatching OMIM:612315 KRT6C skos:exactMatch ncbigene:286887 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch ncbigene:55210 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:ATAD3A semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310856 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:KRT6C semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch UMLS:C1428501 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310856 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:ATAD3A semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch ncbigene:55210 semapv:UnspecifiedMatching OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:ATAD3B semapv:UnspecifiedMatching OMIM:612317 ATAD3B skos:exactMatch ncbigene:83858 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3668943 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching -OMIM:612320 CDCP2 skos:exactMatch ncbigene:200008 semapv:UnspecifiedMatching OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:CDCP2 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch ncbigene:200008 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch UMLS:C1825280 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:FASTKD2 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch ncbigene:22868 semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch UMLS:C1825596 semapv:UnspecifiedMatching OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:IMMP1L semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch UMLS:C1825596 semapv:UnspecifiedMatching OMIM:612323 IMMP1L skos:exactMatch ncbigene:196294 semapv:UnspecifiedMatching -OMIM:612324 CCDC34 skos:exactMatch ncbigene:91057 semapv:UnspecifiedMatching OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:CCDC34 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch ncbigene:91057 semapv:UnspecifiedMatching OMIM:612325 ICK skos:exactMatch hgnc.symbol:CILK1 semapv:UnspecifiedMatching OMIM:612325 ICK skos:exactMatch ncbigene:22858 semapv:UnspecifiedMatching OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:TCF25 semapv:UnspecifiedMatching OMIM:612326 TCF25 skos:exactMatch ncbigene:22980 semapv:UnspecifiedMatching OMIM:612327 MANEA skos:exactMatch hgnc.symbol:MANEA semapv:UnspecifiedMatching OMIM:612327 MANEA skos:exactMatch ncbigene:79694 semapv:UnspecifiedMatching -OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:CCDC73 semapv:UnspecifiedMatching OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch ncbigene:493860 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:CCDC73 semapv:UnspecifiedMatching OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:MIR30A semapv:UnspecifiedMatching OMIM:612329 MIR30A skos:exactMatch ncbigene:407029 semapv:UnspecifiedMatching -OMIM:612330 MIRN610 skos:exactMatch ncbigene:693195 semapv:UnspecifiedMatching OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:MIR610 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch ncbigene:693195 semapv:UnspecifiedMatching OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:LIN7B semapv:UnspecifiedMatching OMIM:612331 LIN7B skos:exactMatch ncbigene:64130 semapv:UnspecifiedMatching OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:LIN7C semapv:UnspecifiedMatching OMIM:612332 LIN7C skos:exactMatch ncbigene:55327 semapv:UnspecifiedMatching -OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:PDCD11 semapv:UnspecifiedMatching OMIM:612333 PDCD11 skos:exactMatch ncbigene:22984 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:PDCD11 semapv:UnspecifiedMatching OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:NAPEPLD semapv:UnspecifiedMatching OMIM:612334 NAPEPLD skos:exactMatch ncbigene:222236 semapv:UnspecifiedMatching -OMIM:612338 GGTLC1 skos:exactMatch ncbigene:92086 semapv:UnspecifiedMatching OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:GGTLC1 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch ncbigene:92086 semapv:UnspecifiedMatching OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:GGTLC2 semapv:UnspecifiedMatching OMIM:612339 GGTLC2 skos:exactMatch ncbigene:91227 semapv:UnspecifiedMatching OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:GGTLC3 semapv:UnspecifiedMatching OMIM:612340 GGTLC3 skos:exactMatch ncbigene:728226 semapv:UnspecifiedMatching -OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:GGT6 semapv:UnspecifiedMatching OMIM:612341 GGT6 skos:exactMatch ncbigene:124975 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:GGT6 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:GGT7 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch ncbigene:2686 semapv:UnspecifiedMatching -OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:ZNF385B semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:GGT1 semapv:UnspecifiedMatching OMIM:612346 GGT1 skos:exactMatch ncbigene:2678 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C2678416 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch hgnc.symbol:PAH semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch ncbigene:5053 semapv:UnspecifiedMatching -OMIM:612351 FOXI3 skos:exactMatch ncbigene:344167 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch hgnc.symbol:PAH semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C2678416 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:FOXI3 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch ncbigene:344167 semapv:UnspecifiedMatching OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:STAMBPL1 semapv:UnspecifiedMatching OMIM:612352 STAMBPL1 skos:exactMatch ncbigene:57559 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:KNG1 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch ncbigene:3827 semapv:UnspecifiedMatching -OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching OMIM:612360 NDUFAF5 skos:exactMatch ncbigene:79133 semapv:UnspecifiedMatching -OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch ncbigene:55315 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch ncbigene:340061 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch hgnc.symbol:STING1 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching OMIM:612374 STING1 skos:exactMatch UMLS:C1823437 semapv:UnspecifiedMatching OMIM:612374 STING1 skos:exactMatch UMLS:C4014722 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch hgnc.symbol:STING1 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch ncbigene:340061 semapv:UnspecifiedMatching OMIM:612375 AIDA skos:exactMatch hgnc.symbol:AIDA semapv:UnspecifiedMatching OMIM:612375 AIDA skos:exactMatch ncbigene:64853 semapv:UnspecifiedMatching OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:COMMD6 semapv:UnspecifiedMatching OMIM:612377 COMMD6 skos:exactMatch ncbigene:170622 semapv:UnspecifiedMatching -OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching OMIM:612382 MED10 skos:exactMatch ncbigene:84246 semapv:UnspecifiedMatching -OMIM:612383 MED11 skos:exactMatch ncbigene:400569 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching OMIM:612383 MED11 skos:exactMatch hgnc.symbol:MED11 semapv:UnspecifiedMatching -OMIM:612384 MED18 skos:exactMatch ncbigene:54797 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch ncbigene:400569 semapv:UnspecifiedMatching OMIM:612384 MED18 skos:exactMatch hgnc.symbol:MED18 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch ncbigene:54797 semapv:UnspecifiedMatching OMIM:612385 MED19 skos:exactMatch hgnc.symbol:MED19 semapv:UnspecifiedMatching OMIM:612385 MED19 skos:exactMatch ncbigene:219541 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch UMLS:C1414580 semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch UMLS:C4692546 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch ncbigene:137682 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:NDUFAF6 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C1824247 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching -OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:WHAMM semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:NDUFAF6 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch ncbigene:137682 semapv:UnspecifiedMatching OMIM:612393 WHAMM skos:exactMatch ncbigene:123720 semapv:UnspecifiedMatching -OMIM:612395 CHKB skos:exactMatch hgnc.symbol:CHKB semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:WHAMM semapv:UnspecifiedMatching OMIM:612395 CHKB skos:exactMatch ncbigene:1120 semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch hgnc.symbol:CHKB semapv:UnspecifiedMatching OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:ALLC semapv:UnspecifiedMatching OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:COL6A4P1 semapv:UnspecifiedMatching OMIM:612397 COL6A4P1 skos:exactMatch ncbigene:344875 semapv:UnspecifiedMatching OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:RAB21 semapv:UnspecifiedMatching OMIM:612398 RAB21 skos:exactMatch ncbigene:23011 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:TLE6 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch UMLS:C1539970 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch ncbigene:79816 semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch ncbigene:259173 semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:ALS2CL semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch UMLS:C1428270 semapv:UnspecifiedMatching OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:RASL11A semapv:UnspecifiedMatching OMIM:612403 RASL11A skos:exactMatch ncbigene:387496 semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch UMLS:C1428270 semapv:UnspecifiedMatching -OMIM:612404 RASL11B skos:exactMatch ncbigene:65997 semapv:UnspecifiedMatching OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:RASL11B semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch ncbigene:65997 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch UMLS:C1428141 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:ARL9 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch ncbigene:132946 semapv:UnspecifiedMatching -OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching OMIM:612407 RGS21 skos:exactMatch ncbigene:431704 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:PSPC1 semapv:UnspecifiedMatching OMIM:612408 PSPC1 skos:exactMatch ncbigene:55269 semapv:UnspecifiedMatching OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:RBM14 semapv:UnspecifiedMatching OMIM:612409 RBM14 skos:exactMatch ncbigene:10432 semapv:UnspecifiedMatching -OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:FAT4 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch UMLS:C1412978 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:SPATC1L semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching OMIM:612412 SPATC1L skos:exactMatch ncbigene:84221 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:SPATC1L semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch UMLS:C1412978 semapv:UnspecifiedMatching OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:RBM7 semapv:UnspecifiedMatching OMIM:612413 RBM7 skos:exactMatch ncbigene:10179 semapv:UnspecifiedMatching OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:LRTOMT semapv:UnspecifiedMatching OMIM:612414 LRTOMT skos:exactMatch ncbigene:220074 semapv:UnspecifiedMatching -OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:RAB24 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:TMEM70 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch ncbigene:54968 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:TMEM70 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:CILP2 semapv:UnspecifiedMatching OMIM:612419 CILP2 skos:exactMatch ncbigene:148113 semapv:UnspecifiedMatching -OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:AFAP1L2 semapv:UnspecifiedMatching -OMIM:612424 EYS skos:exactMatch ncbigene:346007 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching OMIM:612424 EYS skos:exactMatch hgnc.symbol:EYS semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch UMLS:C1429002 semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch ncbigene:346007 semapv:UnspecifiedMatching OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:SGO2 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch UMLS:C1429002 semapv:UnspecifiedMatching OMIM:612425 SGOL2 skos:exactMatch ncbigene:151246 semapv:UnspecifiedMatching OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:RMI2 semapv:UnspecifiedMatching OMIM:612426 RMI2 skos:exactMatch ncbigene:116028 semapv:UnspecifiedMatching -OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:RBM25 semapv:UnspecifiedMatching OMIM:612427 RBM25 skos:exactMatch ncbigene:58517 semapv:UnspecifiedMatching -OMIM:612428 RBM38 skos:exactMatch ncbigene:55544 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:RBM25 semapv:UnspecifiedMatching OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:RBM38 semapv:UnspecifiedMatching -OMIM:612429 ZNF300 skos:exactMatch ncbigene:91975 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch ncbigene:55544 semapv:UnspecifiedMatching OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:ZNF300 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch ncbigene:91975 semapv:UnspecifiedMatching OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:RBM22 semapv:UnspecifiedMatching OMIM:612430 RBM22 skos:exactMatch ncbigene:55696 semapv:UnspecifiedMatching OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:WIPF3 semapv:UnspecifiedMatching OMIM:612432 WIPF3 skos:exactMatch ncbigene:644150 semapv:UnspecifiedMatching -OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching OMIM:612434 CRISPLD2 skos:exactMatch ncbigene:83716 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:SLCO3A1 semapv:UnspecifiedMatching OMIM:612435 SLCO3A1 skos:exactMatch ncbigene:28232 semapv:UnspecifiedMatching -OMIM:612436 SLCO4A1 skos:exactMatch ncbigene:28231 semapv:UnspecifiedMatching OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:SLCO4A1 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch ncbigene:28231 semapv:UnspecifiedMatching OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:ARFGAP3 semapv:UnspecifiedMatching OMIM:612439 ARFGAP3 skos:exactMatch ncbigene:26286 semapv:UnspecifiedMatching OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:MGAT5B semapv:UnspecifiedMatching OMIM:612441 MGAT5B skos:exactMatch ncbigene:146664 semapv:UnspecifiedMatching -OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:SEC22A semapv:UnspecifiedMatching OMIM:612442 SEC22A skos:exactMatch ncbigene:26984 semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:SEC22A semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:GEN1 semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch ncbigene:348654 semapv:UnspecifiedMatching -OMIM:612450 HBS1L skos:exactMatch ncbigene:10767 semapv:UnspecifiedMatching OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:HBS1L semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch ncbigene:10767 semapv:UnspecifiedMatching OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:RNF114 semapv:UnspecifiedMatching OMIM:612451 RNF114 skos:exactMatch ncbigene:55905 semapv:UnspecifiedMatching OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:KANSL1 semapv:UnspecifiedMatching OMIM:612452 KANSL1 skos:exactMatch ncbigene:284058 semapv:UnspecifiedMatching -OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:MEGF10 semapv:UnspecifiedMatching OMIM:612453 MEGF10 skos:exactMatch ncbigene:84466 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:MEGF10 semapv:UnspecifiedMatching OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:MEGF11 semapv:UnspecifiedMatching OMIM:612454 MEGF11 skos:exactMatch ncbigene:84465 semapv:UnspecifiedMatching OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:SLC5A12 semapv:UnspecifiedMatching @@ -32271,22 +32275,22 @@ OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:APOLD1 semapv:UnspecifiedMatching OMIM:612456 APOLD1 skos:exactMatch ncbigene:81575 semapv:UnspecifiedMatching OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:ARID3B semapv:UnspecifiedMatching OMIM:612457 ARID3B skos:exactMatch ncbigene:10620 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:ACTL6B semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch UMLS:C1538908 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching -OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch UMLS:C1538908 semapv:UnspecifiedMatching OMIM:612461 ARC skos:exactMatch hgnc.symbol:ARC semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:ARRDC3 semapv:UnspecifiedMatching OMIM:612464 ARRDC3 skos:exactMatch ncbigene:57561 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch UMLS:C1426056 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch ncbigene:9882 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch UMLS:C5436964 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:TBC1D4 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch ncbigene:9882 semapv:UnspecifiedMatching -OMIM:612466 GBP4 skos:exactMatch ncbigene:115361 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch UMLS:C1426056 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:GBP4 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch ncbigene:115361 semapv:UnspecifiedMatching OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:GBP6 semapv:UnspecifiedMatching OMIM:612467 GBP6 skos:exactMatch ncbigene:163351 semapv:UnspecifiedMatching OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:GBP7 semapv:UnspecifiedMatching @@ -32295,92 +32299,92 @@ OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:BATF3 semapv:UnspecifiedMatching OMIM:612470 BATF3 skos:exactMatch ncbigene:55509 semapv:UnspecifiedMatching OMIM:612471 AGXT2 skos:exactMatch ncbigene:64902 semapv:UnspecifiedMatching OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:AGXT2 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch UMLS:C1424999 semapv:UnspecifiedMatching OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:METTL3 semapv:UnspecifiedMatching OMIM:612472 METTL3 skos:exactMatch ncbigene:56339 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch UMLS:C1424999 semapv:UnspecifiedMatching OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:PEBP4 semapv:UnspecifiedMatching OMIM:612473 PEBP4 skos:exactMatch ncbigene:157310 semapv:UnspecifiedMatching OMIM:612476 BATF skos:exactMatch hgnc.symbol:BATF semapv:UnspecifiedMatching OMIM:612476 BATF skos:exactMatch ncbigene:10538 semapv:UnspecifiedMatching OMIM:612477 IQCG skos:exactMatch hgnc.symbol:IQCG semapv:UnspecifiedMatching OMIM:612477 IQCG skos:exactMatch ncbigene:84223 semapv:UnspecifiedMatching -OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:NECAB3 semapv:UnspecifiedMatching OMIM:612478 NECAB3 skos:exactMatch ncbigene:63941 semapv:UnspecifiedMatching -OMIM:612480 TIPARP skos:exactMatch ncbigene:25976 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:NECAB3 semapv:UnspecifiedMatching OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:TIPARP semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch ncbigene:25976 semapv:UnspecifiedMatching OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:PARP12 semapv:UnspecifiedMatching OMIM:612481 PARP12 skos:exactMatch ncbigene:64761 semapv:UnspecifiedMatching OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:RNF43 semapv:UnspecifiedMatching OMIM:612482 RNF43 skos:exactMatch ncbigene:54894 semapv:UnspecifiedMatching -OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:FAT3 semapv:UnspecifiedMatching OMIM:612483 FAT3 skos:exactMatch ncbigene:120114 semapv:UnspecifiedMatching -OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:RNASE7 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:FAT3 semapv:UnspecifiedMatching OMIM:612484 RNASE7 skos:exactMatch ncbigene:84659 semapv:UnspecifiedMatching -OMIM:612485 RNASE8 skos:exactMatch ncbigene:122665 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:RNASE7 semapv:UnspecifiedMatching OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:RNASE8 semapv:UnspecifiedMatching -OMIM:612486 DCHS2 skos:exactMatch ncbigene:54798 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch ncbigene:122665 semapv:UnspecifiedMatching OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:DCHS2 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch ncbigene:54798 semapv:UnspecifiedMatching OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:RNF31 semapv:UnspecifiedMatching OMIM:612487 RNF31 skos:exactMatch ncbigene:55072 semapv:UnspecifiedMatching OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:RNF38 semapv:UnspecifiedMatching OMIM:612488 RNF38 skos:exactMatch ncbigene:152006 semapv:UnspecifiedMatching -OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:RNF24 semapv:UnspecifiedMatching OMIM:612489 RNF24 skos:exactMatch ncbigene:11237 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:RNF24 semapv:UnspecifiedMatching OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:RNF181 semapv:UnspecifiedMatching OMIM:612490 RNF181 skos:exactMatch ncbigene:51255 semapv:UnspecifiedMatching -OMIM:612491 APIP skos:exactMatch ncbigene:51074 semapv:UnspecifiedMatching OMIM:612491 APIP skos:exactMatch hgnc.symbol:APIP semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch ncbigene:51074 semapv:UnspecifiedMatching OMIM:612492 USP30 skos:exactMatch hgnc.symbol:USP30 semapv:UnspecifiedMatching OMIM:612492 USP30 skos:exactMatch ncbigene:84749 semapv:UnspecifiedMatching OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:CNPY1 semapv:UnspecifiedMatching OMIM:612493 CNPY1 skos:exactMatch ncbigene:285888 semapv:UnspecifiedMatching -OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:ARHGEF10L semapv:UnspecifiedMatching OMIM:612494 ARHGEF10L skos:exactMatch ncbigene:55160 semapv:UnspecifiedMatching -OMIM:612495 UBE3D skos:exactMatch ncbigene:90025 semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:ARHGEF10L semapv:UnspecifiedMatching OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:UBE3D semapv:UnspecifiedMatching -OMIM:612496 ARHGEF19 skos:exactMatch ncbigene:128272 semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch ncbigene:90025 semapv:UnspecifiedMatching OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:ARHGEF19 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch ncbigene:128272 semapv:UnspecifiedMatching OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:NSA2 semapv:UnspecifiedMatching OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch ncbigene:10412 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch UMLS:C1426678 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:ADSS1 semapv:UnspecifiedMatching OMIM:612498 ADSS1 skos:exactMatch ncbigene:122622 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch UMLS:C1426678 semapv:UnspecifiedMatching OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:DIMT1 semapv:UnspecifiedMatching OMIM:612499 DIMT1 skos:exactMatch ncbigene:27292 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch ncbigene:11056 semapv:UnspecifiedMatching OMIM:612500 DDX52 skos:exactMatch UMLS:C1426628 semapv:UnspecifiedMatching OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:DDX52 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch ncbigene:11056 semapv:UnspecifiedMatching OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:UBE2Q2 semapv:UnspecifiedMatching OMIM:612501 UBE2Q2 skos:exactMatch ncbigene:92912 semapv:UnspecifiedMatching OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:COLEC11 semapv:UnspecifiedMatching OMIM:612502 COLEC11 skos:exactMatch ncbigene:78989 semapv:UnspecifiedMatching -OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:ABCA5 semapv:UnspecifiedMatching OMIM:612503 ABCA5 skos:exactMatch ncbigene:23461 semapv:UnspecifiedMatching -OMIM:612504 ABCA6 skos:exactMatch ncbigene:23460 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:ABCA5 semapv:UnspecifiedMatching OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:ABCA6 semapv:UnspecifiedMatching -OMIM:612505 ABCA8 skos:exactMatch ncbigene:10351 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch ncbigene:23460 semapv:UnspecifiedMatching OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:ABCA8 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch ncbigene:10351 semapv:UnspecifiedMatching OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:UBE2R2 semapv:UnspecifiedMatching OMIM:612506 UBE2R2 skos:exactMatch ncbigene:54926 semapv:UnspecifiedMatching OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:ABCA9 semapv:UnspecifiedMatching OMIM:612507 ABCA9 skos:exactMatch ncbigene:10350 semapv:UnspecifiedMatching -OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:ABCA10 semapv:UnspecifiedMatching OMIM:612508 ABCA10 skos:exactMatch ncbigene:10349 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:ABCA10 semapv:UnspecifiedMatching OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:ABCC10 semapv:UnspecifiedMatching OMIM:612509 ABCC10 skos:exactMatch ncbigene:89845 semapv:UnspecifiedMatching -OMIM:612510 ABCF2 skos:exactMatch ncbigene:10061 semapv:UnspecifiedMatching OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:ABCF2 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch ncbigene:10061 semapv:UnspecifiedMatching OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:MIR101-1 semapv:UnspecifiedMatching OMIM:612511 MIRN101-1 skos:exactMatch ncbigene:406893 semapv:UnspecifiedMatching OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:MIR101-2 semapv:UnspecifiedMatching OMIM:612512 MIRN101-2 skos:exactMatch ncbigene:406894 semapv:UnspecifiedMatching -OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching OMIM:612515 DCAF17 skos:exactMatch ncbigene:80067 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching OMIM:612516 UACA skos:exactMatch hgnc.symbol:UACA semapv:UnspecifiedMatching OMIM:612516 UACA skos:exactMatch ncbigene:55075 semapv:UnspecifiedMatching -OMIM:612517 DNAAF2 skos:exactMatch ncbigene:55172 semapv:UnspecifiedMatching OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:DNAAF2 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch ncbigene:55172 semapv:UnspecifiedMatching OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:SLC35D3 semapv:UnspecifiedMatching OMIM:612519 SLC35D3 skos:exactMatch ncbigene:340146 semapv:UnspecifiedMatching OMIM:612520 iia 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching @@ -32390,172 +32394,172 @@ OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:IQCH OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch ncbigene:64799 semapv:UnspecifiedMatching OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:RPP21 semapv:UnspecifiedMatching OMIM:612524 RPP21 skos:exactMatch ncbigene:79897 semapv:UnspecifiedMatching -OMIM:612531 THAP2 skos:exactMatch ncbigene:83591 semapv:UnspecifiedMatching OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:THAP2 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch ncbigene:83591 semapv:UnspecifiedMatching OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:THAP3 semapv:UnspecifiedMatching OMIM:612532 THAP3 skos:exactMatch ncbigene:90326 semapv:UnspecifiedMatching -OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:THAP4 semapv:UnspecifiedMatching OMIM:612533 THAP4 skos:exactMatch ncbigene:51078 semapv:UnspecifiedMatching -OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:THAP5 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:THAP4 semapv:UnspecifiedMatching OMIM:612534 THAP5 skos:exactMatch ncbigene:168451 semapv:UnspecifiedMatching -OMIM:612535 THAP6 skos:exactMatch ncbigene:152815 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:THAP5 semapv:UnspecifiedMatching OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:THAP6 semapv:UnspecifiedMatching -OMIM:612536 THAP8 skos:exactMatch ncbigene:199745 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch ncbigene:152815 semapv:UnspecifiedMatching OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:THAP8 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch ncbigene:199745 semapv:UnspecifiedMatching OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:THAP9 semapv:UnspecifiedMatching OMIM:612537 THAP9 skos:exactMatch ncbigene:79725 semapv:UnspecifiedMatching OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:THAP10 semapv:UnspecifiedMatching OMIM:612538 THAP10 skos:exactMatch ncbigene:56906 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:178503 semapv:UnspecifiedMatching OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:178503 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching OMIM:612543 USP36 skos:exactMatch hgnc.symbol:USP36 semapv:UnspecifiedMatching OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching -OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching OMIM:612546 METTL27 skos:exactMatch ncbigene:155368 semapv:UnspecifiedMatching -OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:TMEM270 semapv:UnspecifiedMatching OMIM:612547 TMEM270 skos:exactMatch ncbigene:135886 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:TMEM270 semapv:UnspecifiedMatching OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:TRIM50 semapv:UnspecifiedMatching OMIM:612548 TRIM50 skos:exactMatch ncbigene:135892 semapv:UnspecifiedMatching -OMIM:612549 TRIM73 skos:exactMatch ncbigene:375593 semapv:UnspecifiedMatching OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:TRIM73 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch ncbigene:375593 semapv:UnspecifiedMatching OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:TRIM74 semapv:UnspecifiedMatching OMIM:612550 TRIM74 skos:exactMatch ncbigene:378108 semapv:UnspecifiedMatching OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:ZBED4 semapv:UnspecifiedMatching OMIM:612552 ZBED4 skos:exactMatch ncbigene:9889 semapv:UnspecifiedMatching -OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching OMIM:612553 MIR370 skos:exactMatch ncbigene:442915 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:TXNDC9 semapv:UnspecifiedMatching OMIM:612564 TXNDC9 skos:exactMatch ncbigene:10190 semapv:UnspecifiedMatching -OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:RAB1B semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching OMIM:612568 SPIC skos:exactMatch hgnc.symbol:SPIC semapv:UnspecifiedMatching OMIM:612568 SPIC skos:exactMatch ncbigene:121599 semapv:UnspecifiedMatching -OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:CCAR1 semapv:UnspecifiedMatching OMIM:612569 CCAR1 skos:exactMatch ncbigene:55749 semapv:UnspecifiedMatching -OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:CCAR1 semapv:UnspecifiedMatching OMIM:612570 FBN2 skos:exactMatch ncbigene:2201 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:612583 SPNS1 skos:exactMatch ncbigene:83985 semapv:UnspecifiedMatching OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:SPNS1 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch ncbigene:83985 semapv:UnspecifiedMatching OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:SPNS2 semapv:UnspecifiedMatching OMIM:612584 SPNS2 skos:exactMatch ncbigene:124976 semapv:UnspecifiedMatching OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:CLPTM1L semapv:UnspecifiedMatching OMIM:612585 CLPTM1L skos:exactMatch ncbigene:81037 semapv:UnspecifiedMatching -OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching OMIM:612588 BCLAF1 skos:exactMatch ncbigene:9774 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:CRTAM semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch ncbigene:56253 semapv:UnspecifiedMatching -OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:RNF11 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:MRM3 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch ncbigene:55178 semapv:UnspecifiedMatching -OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:RFPL4A semapv:UnspecifiedMatching OMIM:612601 RFPL4A skos:exactMatch ncbigene:342931 semapv:UnspecifiedMatching -OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:RBM15B semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:RFPL4A semapv:UnspecifiedMatching OMIM:612602 RBM15B skos:exactMatch ncbigene:29890 semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:RBM15B semapv:UnspecifiedMatching OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:LCE1A semapv:UnspecifiedMatching OMIM:612603 LCE1A skos:exactMatch ncbigene:353131 semapv:UnspecifiedMatching -OMIM:612604 LCE1B skos:exactMatch ncbigene:353132 semapv:UnspecifiedMatching OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:LCE1B semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch ncbigene:353132 semapv:UnspecifiedMatching OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:LCE1C semapv:UnspecifiedMatching OMIM:612605 LCE1C skos:exactMatch ncbigene:353133 semapv:UnspecifiedMatching OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:LCE1D semapv:UnspecifiedMatching OMIM:612606 LCE1D skos:exactMatch ncbigene:353134 semapv:UnspecifiedMatching -OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:LCE1E semapv:UnspecifiedMatching OMIM:612607 LCE1E skos:exactMatch ncbigene:353135 semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:LCE1E semapv:UnspecifiedMatching OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:LCE1F semapv:UnspecifiedMatching OMIM:612608 LCE1F skos:exactMatch ncbigene:353137 semapv:UnspecifiedMatching -OMIM:612609 LCE2A skos:exactMatch ncbigene:353139 semapv:UnspecifiedMatching OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:LCE2A semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch ncbigene:353139 semapv:UnspecifiedMatching OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:LCE2B semapv:UnspecifiedMatching OMIM:612610 LCE2B skos:exactMatch ncbigene:26239 semapv:UnspecifiedMatching OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:LCE2C semapv:UnspecifiedMatching OMIM:612611 LCE2C skos:exactMatch ncbigene:353140 semapv:UnspecifiedMatching -OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:LCE2D semapv:UnspecifiedMatching OMIM:612612 LCE2D skos:exactMatch ncbigene:353141 semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:LCE2D semapv:UnspecifiedMatching OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:LCE3A semapv:UnspecifiedMatching OMIM:612613 LCE3A skos:exactMatch ncbigene:353142 semapv:UnspecifiedMatching -OMIM:612614 LCE3B skos:exactMatch ncbigene:353143 semapv:UnspecifiedMatching OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:LCE3B semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch ncbigene:353143 semapv:UnspecifiedMatching OMIM:612615 LCE3C skos:exactMatch UMLS:C1537542 semapv:UnspecifiedMatching OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:LCE3C semapv:UnspecifiedMatching OMIM:612615 LCE3C skos:exactMatch ncbigene:353144 semapv:UnspecifiedMatching -OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:LCE3D semapv:UnspecifiedMatching OMIM:612616 LCE3D skos:exactMatch ncbigene:84648 semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:LCE3D semapv:UnspecifiedMatching OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:LCE3E semapv:UnspecifiedMatching OMIM:612617 LCE3E skos:exactMatch ncbigene:353145 semapv:UnspecifiedMatching OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:LCE4A semapv:UnspecifiedMatching OMIM:612618 LCE4A skos:exactMatch ncbigene:199834 semapv:UnspecifiedMatching -OMIM:612619 LCE5A skos:exactMatch ncbigene:254910 semapv:UnspecifiedMatching OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:LCE5A semapv:UnspecifiedMatching -OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:RASSF6 semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch ncbigene:254910 semapv:UnspecifiedMatching OMIM:612620 RASSF6 skos:exactMatch ncbigene:166824 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:RASSF6 semapv:UnspecifiedMatching OMIM:612622 iia 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching -OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:LMBRD1 semapv:UnspecifiedMatching OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch ncbigene:55788 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:LMBRD1 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:UNC80 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch ncbigene:285175 semapv:UnspecifiedMatching -OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:NDUFA11 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch hgnc.symbol:TBATA semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch ncbigene:219793 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017276 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch ncbigene:286 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017278 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017277 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:ANK1 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017278 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017275 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017274 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C1412402 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017276 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017277 semapv:UnspecifiedMatching OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:MACC1 semapv:UnspecifiedMatching OMIM:612646 MACC1 skos:exactMatch ncbigene:346389 semapv:UnspecifiedMatching OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:RSPH4A semapv:UnspecifiedMatching OMIM:612647 RSPH4A skos:exactMatch ncbigene:345895 semapv:UnspecifiedMatching -OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:RSPH9 semapv:UnspecifiedMatching OMIM:612648 RSPH9 skos:exactMatch ncbigene:221421 semapv:UnspecifiedMatching -OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:RSPH9 semapv:UnspecifiedMatching OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching +OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching OMIM:612654 TCHP skos:exactMatch hgnc.symbol:TCHP semapv:UnspecifiedMatching OMIM:612654 TCHP skos:exactMatch ncbigene:84260 semapv:UnspecifiedMatching -OMIM:612655 TBC1D7 skos:exactMatch ncbigene:51256 semapv:UnspecifiedMatching OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:TBC1D7 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch ncbigene:51256 semapv:UnspecifiedMatching OMIM:612657 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching OMIM:612657 cone-rod dystrophy 12 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:TJAP1 semapv:UnspecifiedMatching OMIM:612658 TJAP1 skos:exactMatch ncbigene:93643 semapv:UnspecifiedMatching -OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:RFX6 semapv:UnspecifiedMatching OMIM:612659 RFX6 skos:exactMatch ncbigene:222546 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:RFX6 semapv:UnspecifiedMatching OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:RFX7 semapv:UnspecifiedMatching OMIM:612660 RFX7 skos:exactMatch ncbigene:64864 semapv:UnspecifiedMatching -OMIM:612661 WRAP53 skos:exactMatch ncbigene:55135 semapv:UnspecifiedMatching OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:WRAP53 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch ncbigene:55135 semapv:UnspecifiedMatching OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:TBC1D15 semapv:UnspecifiedMatching OMIM:612662 TBC1D15 skos:exactMatch ncbigene:64786 semapv:UnspecifiedMatching -OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:TIFAB semapv:UnspecifiedMatching OMIM:612663 TIFAB skos:exactMatch ncbigene:497189 semapv:UnspecifiedMatching -OMIM:612664 RERG skos:exactMatch hgnc.symbol:RERG semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:TIFAB semapv:UnspecifiedMatching OMIM:612664 RERG skos:exactMatch ncbigene:85004 semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch hgnc.symbol:RERG semapv:UnspecifiedMatching OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:TEX101 semapv:UnspecifiedMatching OMIM:612665 TEX101 skos:exactMatch ncbigene:83639 semapv:UnspecifiedMatching -OMIM:612666 DSTYK skos:exactMatch ncbigene:25778 semapv:UnspecifiedMatching OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:DSTYK semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch ncbigene:25778 semapv:UnspecifiedMatching OMIM:612667 HJURP skos:exactMatch hgnc.symbol:HJURP semapv:UnspecifiedMatching OMIM:612667 HJURP skos:exactMatch ncbigene:55355 semapv:UnspecifiedMatching OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:TAS2R43 semapv:UnspecifiedMatching OMIM:612668 TAS2R43 skos:exactMatch ncbigene:259289 semapv:UnspecifiedMatching -OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:TAS2R31 semapv:UnspecifiedMatching OMIM:612669 TAS2R31 skos:exactMatch ncbigene:259290 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:TAS2R31 semapv:UnspecifiedMatching OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:RAB10 semapv:UnspecifiedMatching OMIM:612672 RAB10 skos:exactMatch ncbigene:10890 semapv:UnspecifiedMatching -OMIM:612673 RAB14 skos:exactMatch ncbigene:51552 semapv:UnspecifiedMatching OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:RAB14 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch ncbigene:51552 semapv:UnspecifiedMatching OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:SCARNA15 semapv:UnspecifiedMatching @@ -32566,8 +32570,8 @@ OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:PYHIN1 semapv:UnspecifiedMatching OMIM:612677 PYHIN1 skos:exactMatch ncbigene:149628 semapv:UnspecifiedMatching OMIM:612678 CELF3 skos:exactMatch ncbigene:11189 semapv:UnspecifiedMatching OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:CELF3 semapv:UnspecifiedMatching -OMIM:612679 CELF4 skos:exactMatch ncbigene:56853 semapv:UnspecifiedMatching OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:CELF4 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch ncbigene:56853 semapv:UnspecifiedMatching OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:CELF5 semapv:UnspecifiedMatching OMIM:612680 CELF5 skos:exactMatch ncbigene:60680 semapv:UnspecifiedMatching OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:CELF6 semapv:UnspecifiedMatching @@ -32575,107 +32579,107 @@ OMIM:612681 CELF6 skos:exactMatch ncbigene:60677 semapv:UnspecifiedMatching OMIM:612682 DRAXIN skos:exactMatch UMLS:C1823801 semapv:UnspecifiedMatching OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:DRAXIN semapv:UnspecifiedMatching OMIM:612682 DRAXIN skos:exactMatch ncbigene:374946 semapv:UnspecifiedMatching -OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:TEKT3 semapv:UnspecifiedMatching OMIM:612683 TEKT3 skos:exactMatch ncbigene:64518 semapv:UnspecifiedMatching -OMIM:612684 ISM2 skos:exactMatch ncbigene:145501 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:TEKT3 semapv:UnspecifiedMatching OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:ISM2 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch ncbigene:145501 semapv:UnspecifiedMatching OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:CAMSAP3 semapv:UnspecifiedMatching OMIM:612685 CAMSAP3 skos:exactMatch ncbigene:57662 semapv:UnspecifiedMatching OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:PLEKHA7 semapv:UnspecifiedMatching OMIM:612686 PLEKHA7 skos:exactMatch ncbigene:144100 semapv:UnspecifiedMatching OMIM:612687 RGMB skos:exactMatch hgnc.symbol:RGMB semapv:UnspecifiedMatching OMIM:612687 RGMB skos:exactMatch ncbigene:285704 semapv:UnspecifiedMatching -OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:RNF168 semapv:UnspecifiedMatching OMIM:612688 RNF168 skos:exactMatch ncbigene:165918 semapv:UnspecifiedMatching -OMIM:612689 TJP3 skos:exactMatch ncbigene:27134 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:RNF168 semapv:UnspecifiedMatching OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:TJP3 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch ncbigene:27134 semapv:UnspecifiedMatching OMIM:612693 URM1 skos:exactMatch hgnc.symbol:URM1 semapv:UnspecifiedMatching OMIM:612693 URM1 skos:exactMatch ncbigene:81605 semapv:UnspecifiedMatching OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:CTU1 semapv:UnspecifiedMatching OMIM:612694 CTU1 skos:exactMatch ncbigene:90353 semapv:UnspecifiedMatching OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:VTRNA1-1 semapv:UnspecifiedMatching OMIM:612695 VTRNA1-1 skos:exactMatch ncbigene:56664 semapv:UnspecifiedMatching -OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:VTRNA1-2 semapv:UnspecifiedMatching OMIM:612696 VTRNA1-2 skos:exactMatch ncbigene:56663 semapv:UnspecifiedMatching -OMIM:612697 VTRNA1-3 skos:exactMatch ncbigene:56662 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:VTRNA1-2 semapv:UnspecifiedMatching OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:VTRNA1-3 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch ncbigene:56662 semapv:UnspecifiedMatching OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:MIR187 semapv:UnspecifiedMatching OMIM:612698 MIR187 skos:exactMatch ncbigene:406963 semapv:UnspecifiedMatching OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:RIMBP3 semapv:UnspecifiedMatching OMIM:612699 RIMBP3 skos:exactMatch ncbigene:85376 semapv:UnspecifiedMatching -OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:RIMBP3B semapv:UnspecifiedMatching OMIM:612700 RIMBP3B skos:exactMatch ncbigene:440804 semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:RIMBP3B semapv:UnspecifiedMatching OMIM:612701 RIMBP3C skos:exactMatch ncbigene:150221 semapv:UnspecifiedMatching OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:RIMBP3C semapv:UnspecifiedMatching -OMIM:612704 RGPD1 skos:exactMatch ncbigene:400966 semapv:UnspecifiedMatching OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:RGPD1 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch ncbigene:400966 semapv:UnspecifiedMatching OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:RGPD2 semapv:UnspecifiedMatching OMIM:612705 RGPD2 skos:exactMatch ncbigene:729857 semapv:UnspecifiedMatching OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:RGPD3 semapv:UnspecifiedMatching OMIM:612706 RGPD3 skos:exactMatch ncbigene:653489 semapv:UnspecifiedMatching OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:RGPD4 semapv:UnspecifiedMatching OMIM:612707 RGPD4 skos:exactMatch ncbigene:285190 semapv:UnspecifiedMatching -OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:RGPD5 semapv:UnspecifiedMatching OMIM:612708 RGPD5 skos:exactMatch ncbigene:84220 semapv:UnspecifiedMatching -OMIM:612709 RGPD6 skos:exactMatch ncbigene:729540 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:RGPD5 semapv:UnspecifiedMatching OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:RGPD6 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch ncbigene:729540 semapv:UnspecifiedMatching OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:GCC2 semapv:UnspecifiedMatching OMIM:612711 GCC2 skos:exactMatch ncbigene:9648 semapv:UnspecifiedMatching OMIM:612719 PTS skos:exactMatch hgnc.symbol:PTS semapv:UnspecifiedMatching OMIM:612719 PTS skos:exactMatch ncbigene:5805 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch ncbigene:54505 semapv:UnspecifiedMatching OMIM:612720 DHX29 skos:exactMatch UMLS:C1423751 semapv:UnspecifiedMatching OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:DHX29 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch ncbigene:54505 semapv:UnspecifiedMatching OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch ncbigene:389075 semapv:UnspecifiedMatching OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:RESP18 semapv:UnspecifiedMatching -OMIM:612722 ELP3 skos:exactMatch ncbigene:55140 semapv:UnspecifiedMatching OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:ELP3 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch ncbigene:55140 semapv:UnspecifiedMatching OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:PLEKHH2 semapv:UnspecifiedMatching OMIM:612723 PLEKHH2 skos:exactMatch ncbigene:130271 semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch UMLS:C1412347 semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:ALDOB semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch ncbigene:229 semapv:UnspecifiedMatching -OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching OMIM:612725 PPP6C skos:exactMatch ncbigene:5537 semapv:UnspecifiedMatching -OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:SLC9A8 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch ncbigene:1371 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C0342856 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C1413681 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C4017281 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch hgnc.symbol:CPOX semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch ncbigene:1371 semapv:UnspecifiedMatching -OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:THOC5 semapv:UnspecifiedMatching OMIM:612733 THOC5 skos:exactMatch ncbigene:8563 semapv:UnspecifiedMatching -OMIM:612734 TLX1NB skos:exactMatch ncbigene:100038246 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:THOC5 semapv:UnspecifiedMatching OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:TLX1NB semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch ncbigene:100038246 semapv:UnspecifiedMatching OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:HLA-DRB3 semapv:UnspecifiedMatching OMIM:612735 HLA-DRB3 skos:exactMatch ncbigene:3125 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:SLC9C1 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch ncbigene:285335 semapv:UnspecifiedMatching -OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:SPACA1 semapv:UnspecifiedMatching OMIM:612739 SPACA1 skos:exactMatch ncbigene:81833 semapv:UnspecifiedMatching -OMIM:612741 SNAI3 skos:exactMatch ncbigene:333929 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:SPACA1 semapv:UnspecifiedMatching OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:SNAI3 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch ncbigene:333929 semapv:UnspecifiedMatching OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:MIR181A1 semapv:UnspecifiedMatching OMIM:612742 MIR181A1 skos:exactMatch ncbigene:406995 semapv:UnspecifiedMatching OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:MIR181A2 semapv:UnspecifiedMatching OMIM:612743 MIR181A2 skos:exactMatch ncbigene:406954 semapv:UnspecifiedMatching OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:MIR181B1 semapv:UnspecifiedMatching OMIM:612744 MIR181B1 skos:exactMatch ncbigene:406955 semapv:UnspecifiedMatching -OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:MIR181B2 semapv:UnspecifiedMatching OMIM:612745 MIR181B2 skos:exactMatch ncbigene:406956 semapv:UnspecifiedMatching -OMIM:612746 MIR181C skos:exactMatch ncbigene:406957 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:MIR181B2 semapv:UnspecifiedMatching OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:MIR181C semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch ncbigene:406957 semapv:UnspecifiedMatching OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:TFIP11 semapv:UnspecifiedMatching OMIM:612747 TFIP11 skos:exactMatch ncbigene:24144 semapv:UnspecifiedMatching OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:LYZL2 semapv:UnspecifiedMatching OMIM:612748 LYZL2 skos:exactMatch ncbigene:119180 semapv:UnspecifiedMatching -OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:SPACA3 semapv:UnspecifiedMatching OMIM:612749 SPACA3 skos:exactMatch ncbigene:124912 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:SPACA3 semapv:UnspecifiedMatching OMIM:612750 LYZL4 skos:exactMatch ncbigene:131375 semapv:UnspecifiedMatching OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:LYZL4 semapv:UnspecifiedMatching OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:LYZL6 semapv:UnspecifiedMatching @@ -32689,8 +32693,8 @@ OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:GLRX3 semapv:UnspecifiedMatching OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:NAA25 semapv:UnspecifiedMatching OMIM:612755 NAA25 skos:exactMatch ncbigene:80018 semapv:UnspecifiedMatching OMIM:612755 NAA25 skos:exactMatch UMLS:C1824351 semapv:UnspecifiedMatching -OMIM:612756 TCAM1 skos:exactMatch ncbigene:146771 semapv:UnspecifiedMatching OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:TCAM1P semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch ncbigene:146771 semapv:UnspecifiedMatching OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:GPIHBP1 semapv:UnspecifiedMatching OMIM:612757 GPIHBP1 skos:exactMatch ncbigene:338328 semapv:UnspecifiedMatching OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:TAPT1 semapv:UnspecifiedMatching @@ -32700,9 +32704,9 @@ OMIM:612760 SNRK skos:exactMatch ncbigene:54861 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch ncbigene:56916 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:SMARCAD1 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1852150 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1425496 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406767 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1425496 semapv:UnspecifiedMatching OMIM:612762 SUPT7L skos:exactMatch UMLS:C1823153 semapv:UnspecifiedMatching OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:SUPT7L semapv:UnspecifiedMatching OMIM:612762 SUPT7L skos:exactMatch ncbigene:9913 semapv:UnspecifiedMatching @@ -32715,9 +32719,9 @@ OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:SFI1 semapv:UnspecifiedMatching OMIM:612765 SFI1 skos:exactMatch ncbigene:9814 semapv:UnspecifiedMatching OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:BABAM1 semapv:UnspecifiedMatching OMIM:612766 BABAM1 skos:exactMatch ncbigene:29086 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch ncbigene:170506 semapv:UnspecifiedMatching OMIM:612767 DHX36 skos:exactMatch UMLS:C1422629 semapv:UnspecifiedMatching OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:DHX36 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch ncbigene:170506 semapv:UnspecifiedMatching OMIM:612768 FNIP2 skos:exactMatch ncbigene:57600 semapv:UnspecifiedMatching OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:FNIP2 semapv:UnspecifiedMatching OMIM:612769 NEAT1 skos:exactMatch UMLS:C2681866 semapv:UnspecifiedMatching @@ -32759,57 +32763,57 @@ OMIM:612799 EARS2 skos:exactMatch UMLS:C1825021 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch UMLS:C3554079 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:EARS2 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch ncbigene:124454 semapv:UnspecifiedMatching -OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:CARS2 semapv:UnspecifiedMatching OMIM:612800 CARS2 skos:exactMatch ncbigene:79587 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:CARS2 semapv:UnspecifiedMatching OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:IARS2 semapv:UnspecifiedMatching OMIM:612801 IARS2 skos:exactMatch ncbigene:55699 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch UMLS:C1823614 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:VARS2 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch ncbigene:57176 semapv:UnspecifiedMatching -OMIM:612803 NARS2 skos:exactMatch ncbigene:79731 semapv:UnspecifiedMatching OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:NARS2 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:SARS2 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch ncbigene:79731 semapv:UnspecifiedMatching OMIM:612804 SARS2 skos:exactMatch ncbigene:54938 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch UMLS:C1425041 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:SARS2 semapv:UnspecifiedMatching OMIM:612804 SARS2 skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch UMLS:C1425041 semapv:UnspecifiedMatching OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:TARS2 semapv:UnspecifiedMatching OMIM:612805 TARS2 skos:exactMatch ncbigene:80222 semapv:UnspecifiedMatching OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:GPR89B semapv:UnspecifiedMatching OMIM:612806 GPR89B skos:exactMatch ncbigene:51463 semapv:UnspecifiedMatching OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:LRFN1 semapv:UnspecifiedMatching OMIM:612807 LRFN1 skos:exactMatch ncbigene:57622 semapv:UnspecifiedMatching -OMIM:612808 LRFN2 skos:exactMatch ncbigene:57497 semapv:UnspecifiedMatching OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:LRFN2 semapv:UnspecifiedMatching -OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:LRFN3 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch ncbigene:57497 semapv:UnspecifiedMatching OMIM:612809 LRFN3 skos:exactMatch ncbigene:79414 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:LRFN3 semapv:UnspecifiedMatching OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:LRFN4 semapv:UnspecifiedMatching OMIM:612810 LRFN4 skos:exactMatch ncbigene:78999 semapv:UnspecifiedMatching OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:LRFN5 semapv:UnspecifiedMatching OMIM:612811 LRFN5 skos:exactMatch ncbigene:145581 semapv:UnspecifiedMatching OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:PFN3 semapv:UnspecifiedMatching OMIM:612812 PFN3 skos:exactMatch ncbigene:345456 semapv:UnspecifiedMatching -OMIM:612814 SPATA18 skos:exactMatch ncbigene:132671 semapv:UnspecifiedMatching OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:SPATA18 semapv:UnspecifiedMatching -OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:ZDHHC13 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch ncbigene:132671 semapv:UnspecifiedMatching OMIM:612815 ZDHHC13 skos:exactMatch ncbigene:54503 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:ZDHHC13 semapv:UnspecifiedMatching OMIM:612816 UTP18 skos:exactMatch UMLS:C1823611 semapv:UnspecifiedMatching OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:UTP18 semapv:UnspecifiedMatching OMIM:612816 UTP18 skos:exactMatch ncbigene:51096 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch ncbigene:11103 semapv:UnspecifiedMatching OMIM:612817 KRR1 skos:exactMatch UMLS:C1825740 semapv:UnspecifiedMatching OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:KRR1 semapv:UnspecifiedMatching -OMIM:612818 NUSAP1 skos:exactMatch ncbigene:51203 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch ncbigene:11103 semapv:UnspecifiedMatching OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:NUSAP1 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch UMLS:C1826447 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:NOC4L semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch ncbigene:51203 semapv:UnspecifiedMatching OMIM:612819 NOC4L skos:exactMatch ncbigene:79050 semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:NOC4L semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch UMLS:C1826447 semapv:UnspecifiedMatching OMIM:612820 NPTN skos:exactMatch hgnc.symbol:NPTN semapv:UnspecifiedMatching OMIM:612820 NPTN skos:exactMatch ncbigene:27020 semapv:UnspecifiedMatching OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:GPR89A semapv:UnspecifiedMatching OMIM:612821 GPR89A skos:exactMatch ncbigene:653519 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:UTP20 semapv:UnspecifiedMatching OMIM:612822 UTP20 skos:exactMatch UMLS:C1823612 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:UTP20 semapv:UnspecifiedMatching OMIM:612822 UTP20 skos:exactMatch ncbigene:27340 semapv:UnspecifiedMatching OMIM:612823 TAF1D skos:exactMatch ncbigene:79101 semapv:UnspecifiedMatching OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:TAF1D semapv:UnspecifiedMatching @@ -32829,12 +32833,12 @@ OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:DHRS3 semapv:UnspecifiedMatching OMIM:612830 DHRS3 skos:exactMatch ncbigene:9249 semapv:UnspecifiedMatching OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:HSD17B11 semapv:UnspecifiedMatching OMIM:612831 HSD17B11 skos:exactMatch ncbigene:51170 semapv:UnspecifiedMatching -OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:HSD17B14 semapv:UnspecifiedMatching OMIM:612832 HSD17B14 skos:exactMatch ncbigene:51171 semapv:UnspecifiedMatching -OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:DHRS7 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:HSD17B14 semapv:UnspecifiedMatching OMIM:612833 DHRS7 skos:exactMatch ncbigene:51635 semapv:UnspecifiedMatching -OMIM:612834 PHLDB1 skos:exactMatch ncbigene:23187 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:DHRS7 semapv:UnspecifiedMatching OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:PHLDB1 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch ncbigene:23187 semapv:UnspecifiedMatching OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:PLCH1 semapv:UnspecifiedMatching OMIM:612835 PLCH1 skos:exactMatch ncbigene:23007 semapv:UnspecifiedMatching OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:PLCH2 semapv:UnspecifiedMatching @@ -32851,50 +32855,50 @@ OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:RASD2 semapv:UnspecifiedMatching OMIM:612842 RASD2 skos:exactMatch ncbigene:23551 semapv:UnspecifiedMatching OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:SENP3 semapv:UnspecifiedMatching OMIM:612844 SENP3 skos:exactMatch ncbigene:26168 semapv:UnspecifiedMatching -OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:SENP5 semapv:UnspecifiedMatching OMIM:612845 SENP5 skos:exactMatch ncbigene:205564 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:SENP5 semapv:UnspecifiedMatching OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:SENP7 semapv:UnspecifiedMatching OMIM:612846 SENP7 skos:exactMatch ncbigene:57337 semapv:UnspecifiedMatching -OMIM:612848 SDHAF1 skos:exactMatch ncbigene:644096 semapv:UnspecifiedMatching OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:SDHAF1 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch ncbigene:644096 semapv:UnspecifiedMatching OMIM:612849 USP46 skos:exactMatch hgnc.symbol:USP46 semapv:UnspecifiedMatching OMIM:612849 USP46 skos:exactMatch ncbigene:64854 semapv:UnspecifiedMatching OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:TUBB2B semapv:UnspecifiedMatching OMIM:612850 TUBB2B skos:exactMatch ncbigene:347733 semapv:UnspecifiedMatching -OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching OMIM:612854 SEC16A skos:exactMatch ncbigene:9919 semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:SEC16B semapv:UnspecifiedMatching OMIM:612855 SEC16B skos:exactMatch ncbigene:89866 semapv:UnspecifiedMatching -OMIM:612856 ASTN2 skos:exactMatch ncbigene:23245 semapv:UnspecifiedMatching OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:ASTN2 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch ncbigene:23245 semapv:UnspecifiedMatching OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:PLAC9 semapv:UnspecifiedMatching OMIM:612857 PLAC9 skos:exactMatch ncbigene:219348 semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:TIGIT semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch ncbigene:201633 semapv:UnspecifiedMatching -OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:QSOX2 semapv:UnspecifiedMatching OMIM:612860 QSOX2 skos:exactMatch ncbigene:169714 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:QSOX2 semapv:UnspecifiedMatching OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:NOP16 semapv:UnspecifiedMatching OMIM:612861 NOP16 skos:exactMatch ncbigene:51491 semapv:UnspecifiedMatching -OMIM:612864 PLA2G4D skos:exactMatch ncbigene:283748 semapv:UnspecifiedMatching OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:PLA2G4D semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch ncbigene:283748 semapv:UnspecifiedMatching OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:PIP5KL1 semapv:UnspecifiedMatching OMIM:612865 PIP5KL1 skos:exactMatch ncbigene:138429 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C1823173 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:ALG14 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch ncbigene:199857 semapv:UnspecifiedMatching -OMIM:612869 ATRNL1 skos:exactMatch ncbigene:26033 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:ALG14 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C1823173 semapv:UnspecifiedMatching OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:ATRNL1 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch ncbigene:26033 semapv:UnspecifiedMatching OMIM:612870 PHIP skos:exactMatch hgnc.symbol:PHIP semapv:UnspecifiedMatching OMIM:612870 PHIP skos:exactMatch ncbigene:55023 semapv:UnspecifiedMatching OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:NKAIN1 semapv:UnspecifiedMatching OMIM:612871 NKAIN1 skos:exactMatch ncbigene:79570 semapv:UnspecifiedMatching OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:NKAIN3 semapv:UnspecifiedMatching OMIM:612872 NKAIN3 skos:exactMatch ncbigene:286183 semapv:UnspecifiedMatching -OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:NKAIN4 semapv:UnspecifiedMatching OMIM:612873 NKAIN4 skos:exactMatch ncbigene:128414 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:NKAIN4 semapv:UnspecifiedMatching OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:GNRHR2 semapv:UnspecifiedMatching OMIM:612878 EXPH5 skos:exactMatch ncbigene:23086 semapv:UnspecifiedMatching OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:EXPH5 semapv:UnspecifiedMatching @@ -32924,8 +32928,8 @@ OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:TUBB1 semapv:UnspecifiedMatching OMIM:612901 TUBB1 skos:exactMatch ncbigene:81027 semapv:UnspecifiedMatching OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:LCN8 semapv:UnspecifiedMatching OMIM:612902 LCN8 skos:exactMatch ncbigene:138307 semapv:UnspecifiedMatching -OMIM:612903 LCN9 skos:exactMatch ncbigene:392399 semapv:UnspecifiedMatching OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:LCN9 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch ncbigene:392399 semapv:UnspecifiedMatching OMIM:612904 LCN10 skos:exactMatch ncbigene:414332 semapv:UnspecifiedMatching OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:LCN10 semapv:UnspecifiedMatching OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:LCN12 semapv:UnspecifiedMatching @@ -32935,8 +32939,8 @@ OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:RAB32 semapv:UnspecifiedMatching OMIM:612906 RAB32 skos:exactMatch ncbigene:10981 semapv:UnspecifiedMatching OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:TRNT1 semapv:UnspecifiedMatching OMIM:612907 TRNT1 skos:exactMatch ncbigene:51095 semapv:UnspecifiedMatching -OMIM:612909 RAB6C skos:exactMatch ncbigene:84084 semapv:UnspecifiedMatching OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:RAB6C semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch ncbigene:84084 semapv:UnspecifiedMatching OMIM:612910 PHF23 skos:exactMatch ncbigene:79142 semapv:UnspecifiedMatching OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:PHF23 semapv:UnspecifiedMatching OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:NDUFAF3 semapv:UnspecifiedMatching @@ -32955,8 +32959,8 @@ OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:TSPEAR semapv:UnspecifiedMatching OMIM:612920 TSPEAR skos:exactMatch ncbigene:54084 semapv:UnspecifiedMatching OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:AVL9 semapv:UnspecifiedMatching OMIM:612927 AVL9 skos:exactMatch ncbigene:23080 semapv:UnspecifiedMatching -OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:ISOC2 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch ncbigene:55022 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch hgnc.symbol:PID1 semapv:UnspecifiedMatching OMIM:612931 PGAM2 skos:exactMatch UMLS:C0268149 semapv:UnspecifiedMatching @@ -32979,26 +32983,26 @@ OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:RAB4B semapv:UnspecifiedMatching OMIM:612945 RAB4B skos:exactMatch ncbigene:53916 semapv:UnspecifiedMatching OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching -OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching +OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C1824568 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:TACO1 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch ncbigene:51204 semapv:UnspecifiedMatching -OMIM:612959 ESRP1 skos:exactMatch ncbigene:54845 semapv:UnspecifiedMatching OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:ESRP1 semapv:UnspecifiedMatching -OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:ESRP2 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch ncbigene:54845 semapv:UnspecifiedMatching OMIM:612960 ESRP2 skos:exactMatch ncbigene:80004 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:ESRP2 semapv:UnspecifiedMatching OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:DCTN5 semapv:UnspecifiedMatching OMIM:612962 DCTN5 skos:exactMatch ncbigene:84516 semapv:UnspecifiedMatching OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:DCTN6 semapv:UnspecifiedMatching OMIM:612963 DCTN6 skos:exactMatch ncbigene:10671 semapv:UnspecifiedMatching -OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:RAB22A semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:TIGD7 semapv:UnspecifiedMatching OMIM:612969 TIGD7 skos:exactMatch ncbigene:91151 semapv:UnspecifiedMatching OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:NBPF17P semapv:UnspecifiedMatching @@ -33011,27 +33015,27 @@ OMIM:612973 TIGD2 skos:exactMatch ncbigene:166815 semapv:UnspecifiedMatching OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:DEPTOR semapv:UnspecifiedMatching OMIM:612974 DEPDC6 skos:exactMatch ncbigene:64798 semapv:UnspecifiedMatching OMIM:612975 short sleep, familial natural, 1 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching OMIM:612977 DCUN1D4 skos:exactMatch ncbigene:23142 semapv:UnspecifiedMatching -OMIM:612978 CBLN3 skos:exactMatch ncbigene:643866 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:CBLN3 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch ncbigene:643866 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch UMLS:C1823165 semapv:UnspecifiedMatching OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:SYS1 semapv:UnspecifiedMatching OMIM:612979 SYS1 skos:exactMatch ncbigene:90196 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch UMLS:C1823165 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch ncbigene:55272 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:IMP3 semapv:UnspecifiedMatching OMIM:612980 IMP3 skos:exactMatch UMLS:C1825597 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:IMP3 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch ncbigene:55272 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch ncbigene:92856 semapv:UnspecifiedMatching OMIM:612981 IMP4 skos:exactMatch UMLS:C1537406 semapv:UnspecifiedMatching OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:IMP4 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch ncbigene:92856 semapv:UnspecifiedMatching OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:MIR210 semapv:UnspecifiedMatching OMIM:612982 MIR210 skos:exactMatch ncbigene:406992 semapv:UnspecifiedMatching OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:MIR106B semapv:UnspecifiedMatching OMIM:612983 MIR106B skos:exactMatch ncbigene:406900 semapv:UnspecifiedMatching -OMIM:612984 MIR93 skos:exactMatch ncbigene:407050 semapv:UnspecifiedMatching OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:MIR93 semapv:UnspecifiedMatching -OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:IRX3 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch ncbigene:407050 semapv:UnspecifiedMatching OMIM:612985 IRX3 skos:exactMatch ncbigene:79191 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:IRX3 semapv:UnspecifiedMatching OMIM:612986 EID3 skos:exactMatch hgnc.symbol:EID3 semapv:UnspecifiedMatching OMIM:612986 EID3 skos:exactMatch ncbigene:493861 semapv:UnspecifiedMatching OMIM:612987 NSMCE4A skos:exactMatch UMLS:C1826474 semapv:UnspecifiedMatching @@ -33039,91 +33043,91 @@ OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:NSMCE4A semapv:UnspecifiedMatchi OMIM:612987 NSMCE4A skos:exactMatch ncbigene:54780 semapv:UnspecifiedMatching OMIM:612988 TMEM126A skos:exactMatch ncbigene:84233 semapv:UnspecifiedMatching OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:TMEM126A semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch ncbigene:171023 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:ASXL1 semapv:UnspecifiedMatching OMIM:612990 ASXL1 skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching OMIM:612990 ASXL1 skos:exactMatch UMLS:C1425445 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:ASXL1 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch ncbigene:171023 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch ncbigene:55252 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch UMLS:C1428272 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch UMLS:C4310672 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:ASXL2 semapv:UnspecifiedMatching -OMIM:612992 NBPF3 skos:exactMatch ncbigene:84224 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch ncbigene:55252 semapv:UnspecifiedMatching OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:NBPF3 semapv:UnspecifiedMatching -OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:FILIP1L semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch ncbigene:84224 semapv:UnspecifiedMatching OMIM:612993 FILIP1L skos:exactMatch ncbigene:11259 semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:FILIP1L semapv:UnspecifiedMatching OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:RAB28 semapv:UnspecifiedMatching OMIM:612994 RAB28 skos:exactMatch ncbigene:9364 semapv:UnspecifiedMatching OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:TRV-CAC1-2 semapv:UnspecifiedMatching OMIM:612995 TRV-CAC1-2 skos:exactMatch ncbigene:7240 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:TRK-CTT2-3 semapv:UnspecifiedMatching OMIM:612996 TRK-CTT2-3 skos:exactMatch UMLS:C1823498 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:TRK-CTT2-3 semapv:UnspecifiedMatching OMIM:612996 TRK-CTT2-3 skos:exactMatch ncbigene:790966 semapv:UnspecifiedMatching -OMIM:612997 spermatogenic failure 7 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:612997 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:612997 spermatogenic failure 7 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C2931923 semapv:UnspecifiedMatching OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C4552049 semapv:UnspecifiedMatching OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch hgnc.symbol:HTT semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch UMLS:C1415504 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch hgnc.symbol:HTT semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching OMIM:613006 iia 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching -OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching OMIM:613009 SEPSECS skos:exactMatch ncbigene:51091 semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching OMIM:613010 RFK skos:exactMatch hgnc.symbol:RFK semapv:UnspecifiedMatching OMIM:613010 RFK skos:exactMatch ncbigene:55312 semapv:UnspecifiedMatching OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:UROC1 semapv:UnspecifiedMatching OMIM:613012 UROC1 skos:exactMatch ncbigene:131669 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch ncbigene:6898 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch hgnc.symbol:TAT semapv:UnspecifiedMatching -OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:SDHAF2 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch ncbigene:6898 semapv:UnspecifiedMatching OMIM:613019 SDHAF2 skos:exactMatch ncbigene:54949 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:SDHAF2 semapv:UnspecifiedMatching OMIM:613022 OGDH skos:exactMatch hgnc.symbol:OGDH semapv:UnspecifiedMatching OMIM:613022 OGDH skos:exactMatch ncbigene:4967 semapv:UnspecifiedMatching OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:CEP170 semapv:UnspecifiedMatching OMIM:613023 CEP170 skos:exactMatch ncbigene:9859 semapv:UnspecifiedMatching -OMIM:613036 PMPCA skos:exactMatch ncbigene:23203 semapv:UnspecifiedMatching OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:PMPCA semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch ncbigene:23203 semapv:UnspecifiedMatching OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:INPP5E semapv:UnspecifiedMatching OMIM:613037 INPP5E skos:exactMatch ncbigene:56623 semapv:UnspecifiedMatching -OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:CHD1L semapv:UnspecifiedMatching OMIM:613039 CHD1L skos:exactMatch ncbigene:9557 semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:CHD1L semapv:UnspecifiedMatching OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:CCDC26 semapv:UnspecifiedMatching OMIM:613040 CCDC26 skos:exactMatch ncbigene:137196 semapv:UnspecifiedMatching OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:FAM90A1 semapv:UnspecifiedMatching OMIM:613041 FAM90A1 skos:exactMatch ncbigene:55138 semapv:UnspecifiedMatching OMIM:613042 FAM90A3 skos:exactMatch hgnc.symbol:FAM90A3P semapv:UnspecifiedMatching OMIM:613042 FAM90A3 skos:exactMatch ncbigene:389611 semapv:UnspecifiedMatching -OMIM:613043 FAM90A5 skos:exactMatch ncbigene:441315 semapv:UnspecifiedMatching OMIM:613043 FAM90A5 skos:exactMatch hgnc.symbol:FAM90A5P semapv:UnspecifiedMatching -OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:FAM90A7 semapv:UnspecifiedMatching +OMIM:613043 FAM90A5 skos:exactMatch ncbigene:441315 semapv:UnspecifiedMatching OMIM:613044 FAM90A7 skos:exactMatch ncbigene:441317 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:FAM90A7 semapv:UnspecifiedMatching OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:FAM90A8 semapv:UnspecifiedMatching OMIM:613045 FAM90A8 skos:exactMatch ncbigene:441324 semapv:UnspecifiedMatching OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:FAM90A9 semapv:UnspecifiedMatching OMIM:613046 FAM90A9 skos:exactMatch ncbigene:441327 semapv:UnspecifiedMatching OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:FAM90A10 semapv:UnspecifiedMatching OMIM:613047 FAM90A10 skos:exactMatch ncbigene:441328 semapv:UnspecifiedMatching -OMIM:613048 FAM90A12 skos:exactMatch ncbigene:645879 semapv:UnspecifiedMatching OMIM:613048 FAM90A12 skos:exactMatch hgnc.symbol:FAM90A12P semapv:UnspecifiedMatching -OMIM:613049 FAM90A13 skos:exactMatch hgnc.symbol:FAM90A13P semapv:UnspecifiedMatching +OMIM:613048 FAM90A12 skos:exactMatch ncbigene:645879 semapv:UnspecifiedMatching OMIM:613049 FAM90A13 skos:exactMatch ncbigene:441314 semapv:UnspecifiedMatching +OMIM:613049 FAM90A13 skos:exactMatch hgnc.symbol:FAM90A13P semapv:UnspecifiedMatching OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:FAM90A14 semapv:UnspecifiedMatching OMIM:613050 FAM90A14 skos:exactMatch ncbigene:645651 semapv:UnspecifiedMatching OMIM:613051 FAM90A15 skos:exactMatch hgnc.symbol:FAM90A15P semapv:UnspecifiedMatching OMIM:613051 FAM90A15 skos:exactMatch ncbigene:389630 semapv:UnspecifiedMatching OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:FAM90A18 semapv:UnspecifiedMatching OMIM:613052 FAM90A18 skos:exactMatch ncbigene:441326 semapv:UnspecifiedMatching -OMIM:613053 FAM90A19 skos:exactMatch ncbigene:728753 semapv:UnspecifiedMatching OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:FAM90A19 semapv:UnspecifiedMatching -OMIM:613054 FAM90A20 skos:exactMatch hgnc.symbol:FAM90A20P semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch ncbigene:728753 semapv:UnspecifiedMatching OMIM:613054 FAM90A20 skos:exactMatch ncbigene:728430 semapv:UnspecifiedMatching +OMIM:613054 FAM90A20 skos:exactMatch hgnc.symbol:FAM90A20P semapv:UnspecifiedMatching OMIM:613056 LUC7L2 skos:exactMatch UMLS:C1427644 semapv:UnspecifiedMatching OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:LUC7L2 semapv:UnspecifiedMatching OMIM:613056 LUC7L2 skos:exactMatch ncbigene:51631 semapv:UnspecifiedMatching @@ -33131,50 +33135,50 @@ OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:MIR26A2 semapv:UnspecifiedMatchi OMIM:613057 MIR26A2 skos:exactMatch ncbigene:407016 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:PKNOX2 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch ncbigene:63876 semapv:UnspecifiedMatching -OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching +OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:PHF10 semapv:UnspecifiedMatching OMIM:613069 PHF10 skos:exactMatch ncbigene:55274 semapv:UnspecifiedMatching OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:LOXHD1 semapv:UnspecifiedMatching OMIM:613072 LOXHD1 skos:exactMatch ncbigene:125336 semapv:UnspecifiedMatching OMIM:613075 macs syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching OMIM:613075 macs syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching -OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching +OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching -OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:KDM1B semapv:UnspecifiedMatching OMIM:613081 KDM1B skos:exactMatch ncbigene:221656 semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:KDM1B semapv:UnspecifiedMatching OMIM:613082 ATP2C2 skos:exactMatch UMLS:C1825505 semapv:UnspecifiedMatching OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:ATP2C2 semapv:UnspecifiedMatching OMIM:613082 ATP2C2 skos:exactMatch ncbigene:9914 semapv:UnspecifiedMatching OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:LTN1 semapv:UnspecifiedMatching OMIM:613083 LTN1 skos:exactMatch ncbigene:26046 semapv:UnspecifiedMatching -OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:MYT1L semapv:UnspecifiedMatching -OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:SRRM4 semapv:UnspecifiedMatching OMIM:613103 SRRM4 skos:exactMatch ncbigene:84530 semapv:UnspecifiedMatching OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:CACFD1 semapv:UnspecifiedMatching OMIM:613104 CACFD1 skos:exactMatch ncbigene:11094 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching -OMIM:613109 GM2A skos:exactMatch ncbigene:2760 semapv:UnspecifiedMatching OMIM:613109 GM2A skos:exactMatch hgnc.symbol:GM2A semapv:UnspecifiedMatching -OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:BLCAP semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch ncbigene:2760 semapv:UnspecifiedMatching OMIM:613110 BLCAP skos:exactMatch ncbigene:10904 semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:BLCAP semapv:UnspecifiedMatching OMIM:613111 CTSA skos:exactMatch hgnc.symbol:CTSA semapv:UnspecifiedMatching OMIM:613111 CTSA skos:exactMatch ncbigene:5476 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C4225458 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch ncbigene:4763 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch hgnc.symbol:NF1 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C4225458 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C0085113 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:RETREG1 semapv:UnspecifiedMatching OMIM:613114 RETREG1 skos:exactMatch ncbigene:54463 semapv:UnspecifiedMatching OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:SNORD50A semapv:UnspecifiedMatching @@ -33183,47 +33187,47 @@ OMIM:613121 NEXN skos:exactMatch hgnc.symbol:NEXN semapv:UnspecifiedMatching OMIM:613121 NEXN skos:exactMatch ncbigene:91624 semapv:UnspecifiedMatching OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:NRIP3 semapv:UnspecifiedMatching OMIM:613125 NRIP3 skos:exactMatch ncbigene:56675 semapv:UnspecifiedMatching -OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:PSRC1 semapv:UnspecifiedMatching OMIM:613126 PSRC1 skos:exactMatch ncbigene:84722 semapv:UnspecifiedMatching -OMIM:613127 CHRDL2 skos:exactMatch ncbigene:25884 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:PSRC1 semapv:UnspecifiedMatching OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:CHRDL2 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch ncbigene:79991 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch hgnc.symbol:STN1 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch ncbigene:25884 semapv:UnspecifiedMatching OMIM:613128 STN1 skos:exactMatch UMLS:C1428560 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch UMLS:C1824460 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch hgnc.symbol:STN1 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch ncbigene:79991 semapv:UnspecifiedMatching OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:CTC1 semapv:UnspecifiedMatching OMIM:613129 CTC1 skos:exactMatch ncbigene:80169 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch UMLS:C1824460 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching OMIM:613130 TEN1 skos:exactMatch UMLS:C2751072 semapv:UnspecifiedMatching OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:TEN1 semapv:UnspecifiedMatching OMIM:613130 TEN1 skos:exactMatch ncbigene:100134934 semapv:UnspecifiedMatching -OMIM:613131 MIR449A skos:exactMatch ncbigene:554213 semapv:UnspecifiedMatching OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:MIR449A semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch ncbigene:554213 semapv:UnspecifiedMatching OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:MIR449B semapv:UnspecifiedMatching OMIM:613132 MIR449B skos:exactMatch ncbigene:693123 semapv:UnspecifiedMatching -OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:TSPAN2 semapv:UnspecifiedMatching OMIM:613133 TSPAN2 skos:exactMatch ncbigene:10100 semapv:UnspecifiedMatching -OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:TSPAN3 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:TSPAN2 semapv:UnspecifiedMatching OMIM:613134 TSPAN3 skos:exactMatch ncbigene:10099 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:TSPAN3 semapv:UnspecifiedMatching OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:TSPAN5 semapv:UnspecifiedMatching OMIM:613136 TSPAN5 skos:exactMatch ncbigene:10098 semapv:UnspecifiedMatching -OMIM:613137 TSPAN9 skos:exactMatch ncbigene:10867 semapv:UnspecifiedMatching OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:TSPAN9 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch ncbigene:10867 semapv:UnspecifiedMatching OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:TSPAN12 semapv:UnspecifiedMatching OMIM:613138 TSPAN12 skos:exactMatch ncbigene:23554 semapv:UnspecifiedMatching OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:TSPAN13 semapv:UnspecifiedMatching OMIM:613139 TSPAN13 skos:exactMatch ncbigene:27075 semapv:UnspecifiedMatching OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:TSPAN15 semapv:UnspecifiedMatching OMIM:613140 TSPAN15 skos:exactMatch ncbigene:23555 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:DTX2 semapv:UnspecifiedMatching OMIM:613141 DTX2 skos:exactMatch UMLS:C1423876 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:DTX2 semapv:UnspecifiedMatching OMIM:613141 DTX2 skos:exactMatch ncbigene:113878 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch ncbigene:196403 semapv:UnspecifiedMatching OMIM:613142 DTX3 skos:exactMatch UMLS:C1428375 semapv:UnspecifiedMatching OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:DTX3 semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch UMLS:C1539313 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch ncbigene:196403 semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:DTX3L semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch UMLS:C1539313 semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch ncbigene:151636 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:MIR184 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch ncbigene:406960 semapv:UnspecifiedMatching @@ -33279,38 +33283,38 @@ OMIM:613173 NEGR1 skos:exactMatch ncbigene:257194 semapv:UnspecifiedMatching OMIM:613175 SMG8 skos:exactMatch UMLS:C1824463 semapv:UnspecifiedMatching OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:SMG8 semapv:UnspecifiedMatching OMIM:613175 SMG8 skos:exactMatch ncbigene:55181 semapv:UnspecifiedMatching -OMIM:613176 SMG9 skos:exactMatch ncbigene:56006 semapv:UnspecifiedMatching OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:SMG9 semapv:UnspecifiedMatching -OMIM:613178 CTIF skos:exactMatch hgnc.symbol:CTIF semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch ncbigene:56006 semapv:UnspecifiedMatching OMIM:613178 CTIF skos:exactMatch ncbigene:9811 semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch hgnc.symbol:CTIF semapv:UnspecifiedMatching OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:BOLA1 semapv:UnspecifiedMatching OMIM:613181 BOLA1 skos:exactMatch ncbigene:51027 semapv:UnspecifiedMatching OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:BOLA2 semapv:UnspecifiedMatching OMIM:613182 BOLA2 skos:exactMatch ncbigene:552900 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:BOLA3 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch ncbigene:388962 semapv:UnspecifiedMatching OMIM:613183 BOLA3 skos:exactMatch UMLS:C1826629 semapv:UnspecifiedMatching OMIM:613183 BOLA3 skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching -OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:TRIM68 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch ncbigene:388962 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:BOLA3 semapv:UnspecifiedMatching OMIM:613184 TRIM68 skos:exactMatch ncbigene:55128 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:TRIM68 semapv:UnspecifiedMatching OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:MIR95 semapv:UnspecifiedMatching OMIM:613185 MIR95 skos:exactMatch ncbigene:407052 semapv:UnspecifiedMatching OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:MIR100 semapv:UnspecifiedMatching OMIM:613186 MIR100 skos:exactMatch ncbigene:406892 semapv:UnspecifiedMatching OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:MIR103A1 semapv:UnspecifiedMatching OMIM:613187 MIR103-1 skos:exactMatch ncbigene:406895 semapv:UnspecifiedMatching -OMIM:613188 MIR103-2 skos:exactMatch ncbigene:406896 semapv:UnspecifiedMatching OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:MIR103A2 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch ncbigene:406896 semapv:UnspecifiedMatching OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:MIR107 semapv:UnspecifiedMatching OMIM:613189 MIR107 skos:exactMatch ncbigene:406901 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch UMLS:C1825897 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:DNAAF1 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch ncbigene:123872 semapv:UnspecifiedMatching -OMIM:613191 DUSP13 skos:exactMatch hgnc.symbol:DUSP13 semapv:UnspecifiedMatching +OMIM:613191 DUSP13 skos:exactMatch hgnc.symbol:DUSP13B semapv:UnspecifiedMatching OMIM:613191 DUSP13 skos:exactMatch ncbigene:51207 semapv:UnspecifiedMatching -OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:ETAA1 semapv:UnspecifiedMatching OMIM:613196 ETAA1 skos:exactMatch ncbigene:54465 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:ETAA1 semapv:UnspecifiedMatching OMIM:613197 TRAFD1 skos:exactMatch ncbigene:10906 semapv:UnspecifiedMatching OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:TRAFD1 semapv:UnspecifiedMatching OMIM:613198 KMT5C skos:exactMatch UMLS:C1539901 semapv:UnspecifiedMatching @@ -33327,12 +33331,12 @@ OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:CHTF18 semapv:UnspecifiedMatching OMIM:613202 CHTF8 skos:exactMatch UMLS:C2681361 semapv:UnspecifiedMatching OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:CHTF8 semapv:UnspecifiedMatching OMIM:613202 CHTF8 skos:exactMatch ncbigene:54921 semapv:UnspecifiedMatching -OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:DSCC1 semapv:UnspecifiedMatching OMIM:613203 DSCC1 skos:exactMatch ncbigene:79075 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:DSCC1 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch ncbigene:7508 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch hgnc.symbol:XPC semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch UMLS:C1421540 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:TMEM181 semapv:UnspecifiedMatching OMIM:613209 TMEM181 skos:exactMatch ncbigene:57583 semapv:UnspecifiedMatching OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:DPH7 semapv:UnspecifiedMatching @@ -33353,40 +33357,40 @@ OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:MTCH2 semapv:UnspecifiedMatching OMIM:613221 MTCH2 skos:exactMatch ncbigene:23788 semapv:UnspecifiedMatching OMIM:613222 GNPDA2 skos:exactMatch ncbigene:132789 semapv:UnspecifiedMatching OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:GNPDA2 semapv:UnspecifiedMatching -OMIM:613226 ZNF296 skos:exactMatch ncbigene:162979 semapv:UnspecifiedMatching OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:ZNF296 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch ncbigene:162979 semapv:UnspecifiedMatching OMIM:613228 AGA skos:exactMatch hgnc.symbol:AGA semapv:UnspecifiedMatching OMIM:613228 AGA skos:exactMatch ncbigene:175 semapv:UnspecifiedMatching OMIM:613230 PEPD skos:exactMatch hgnc.symbol:PEPD semapv:UnspecifiedMatching OMIM:613230 PEPD skos:exactMatch ncbigene:5184 semapv:UnspecifiedMatching OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:KIF26A semapv:UnspecifiedMatching OMIM:613231 KIF26A skos:exactMatch ncbigene:26153 semapv:UnspecifiedMatching -OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching OMIM:613232 RBM42 skos:exactMatch ncbigene:79171 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:NCEH1 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch ncbigene:57552 semapv:UnspecifiedMatching -OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:KCNJ18 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:PPP1R1C semapv:UnspecifiedMatching OMIM:613240 PPP1R1C skos:exactMatch ncbigene:151242 semapv:UnspecifiedMatching OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:PPP1R14C semapv:UnspecifiedMatching OMIM:613242 PPP1R14C skos:exactMatch ncbigene:81706 semapv:UnspecifiedMatching -OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:PPP1R12C semapv:UnspecifiedMatching OMIM:613245 PPP1R12C skos:exactMatch ncbigene:54776 semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:PPP1R12C semapv:UnspecifiedMatching OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:PPP1R1A semapv:UnspecifiedMatching OMIM:613246 PPP1R1A skos:exactMatch ncbigene:5502 semapv:UnspecifiedMatching -OMIM:613247 PLIN4 skos:exactMatch ncbigene:729359 semapv:UnspecifiedMatching OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:PLIN4 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch ncbigene:729359 semapv:UnspecifiedMatching OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:PLIN5 semapv:UnspecifiedMatching OMIM:613248 PLIN5 skos:exactMatch ncbigene:440503 semapv:UnspecifiedMatching OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:EBLN1 semapv:UnspecifiedMatching OMIM:613249 EBLN1 skos:exactMatch ncbigene:340900 semapv:UnspecifiedMatching -OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:EBLN2 semapv:UnspecifiedMatching OMIM:613250 EBLN2 skos:exactMatch ncbigene:55096 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:EBLN2 semapv:UnspecifiedMatching OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:PPP1R14D semapv:UnspecifiedMatching OMIM:613256 PPP1R14D skos:exactMatch ncbigene:54866 semapv:UnspecifiedMatching -OMIM:613257 PPP1R15B skos:exactMatch ncbigene:84919 semapv:UnspecifiedMatching OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:PPP1R15B semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch ncbigene:84919 semapv:UnspecifiedMatching OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:C18orf54 semapv:UnspecifiedMatching OMIM:613258 C18ORF54 skos:exactMatch ncbigene:162681 semapv:UnspecifiedMatching OMIM:613259 RPTN skos:exactMatch hgnc.symbol:RPTN semapv:UnspecifiedMatching @@ -33395,28 +33399,28 @@ OMIM:613260 KPRP skos:exactMatch hgnc.symbol:KPRP semapv:UnspecifiedMatching OMIM:613260 KPRP skos:exactMatch ncbigene:448834 semapv:UnspecifiedMatching OMIM:613261 PRTG skos:exactMatch ncbigene:283659 semapv:UnspecifiedMatching OMIM:613261 PRTG skos:exactMatch hgnc.symbol:PRTG semapv:UnspecifiedMatching -OMIM:613262 RSL24D1 skos:exactMatch ncbigene:51187 semapv:UnspecifiedMatching OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:RSL24D1 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch ncbigene:51187 semapv:UnspecifiedMatching OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:SNHG5 semapv:UnspecifiedMatching OMIM:613263 SNHG5 skos:exactMatch ncbigene:387066 semapv:UnspecifiedMatching OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:SNORD50B semapv:UnspecifiedMatching OMIM:613264 SNORD50B skos:exactMatch ncbigene:692088 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:KCTD3 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch ncbigene:51133 semapv:UnspecifiedMatching -OMIM:613273 INIP skos:exactMatch hgnc.symbol:INIP semapv:UnspecifiedMatching OMIM:613273 INIP skos:exactMatch ncbigene:58493 semapv:UnspecifiedMatching -OMIM:613274 MOCOS skos:exactMatch ncbigene:55034 semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch hgnc.symbol:INIP semapv:UnspecifiedMatching OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:MOCOS semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch ncbigene:55034 semapv:UnspecifiedMatching OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:PPP1R16B semapv:UnspecifiedMatching OMIM:613275 PPP1R16B skos:exactMatch ncbigene:26051 semapv:UnspecifiedMatching OMIM:613276 USB1 skos:exactMatch hgnc.symbol:USB1 semapv:UnspecifiedMatching OMIM:613276 USB1 skos:exactMatch ncbigene:79650 semapv:UnspecifiedMatching OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:TMEM216 semapv:UnspecifiedMatching OMIM:613277 TMEM216 skos:exactMatch ncbigene:51259 semapv:UnspecifiedMatching -OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:SLX4 semapv:UnspecifiedMatching OMIM:613278 SLX4 skos:exactMatch ncbigene:84464 semapv:UnspecifiedMatching -OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch ncbigene:79882 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:SLX4 semapv:UnspecifiedMatching OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:ZC3H14 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch ncbigene:79882 semapv:UnspecifiedMatching OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:SNX20 semapv:UnspecifiedMatching @@ -33425,8 +33429,8 @@ OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:GRXCR1 semapv:UnspecifiedMatching OMIM:613283 GRXCR1 skos:exactMatch ncbigene:389207 semapv:UnspecifiedMatching OMIM:613288 TRIM72 skos:exactMatch ncbigene:493829 semapv:UnspecifiedMatching OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:TRIM72 semapv:UnspecifiedMatching -OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:ATXN8 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:DENND1B semapv:UnspecifiedMatching OMIM:613292 DENND1B skos:exactMatch ncbigene:163486 semapv:UnspecifiedMatching OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:SH3PXD2B semapv:UnspecifiedMatching @@ -33436,28 +33440,28 @@ OMIM:613294 SAE1 skos:exactMatch ncbigene:10055 semapv:UnspecifiedMatching OMIM:613295 UBA2 skos:exactMatch ncbigene:10054 semapv:UnspecifiedMatching OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:UBA2 semapv:UnspecifiedMatching OMIM:613296 LAPTM4B skos:exactMatch ncbigene:55353 semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:LAPTM4B semapv:UnspecifiedMatching OMIM:613296 LAPTM4B skos:exactMatch UMLS:C1422129 semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:LAPTM4B semapv:UnspecifiedMatching OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:MARCHF6 semapv:UnspecifiedMatching OMIM:613297 MARCHF6 skos:exactMatch ncbigene:10299 semapv:UnspecifiedMatching OMIM:613298 TICRR skos:exactMatch hgnc.symbol:TICRR semapv:UnspecifiedMatching OMIM:613298 TICRR skos:exactMatch ncbigene:90381 semapv:UnspecifiedMatching OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:FAM13A semapv:UnspecifiedMatching OMIM:613299 FAM13A skos:exactMatch ncbigene:10144 semapv:UnspecifiedMatching -OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:FAM13A-AS1 semapv:UnspecifiedMatching OMIM:613300 FAM13AOS skos:exactMatch ncbigene:285512 semapv:UnspecifiedMatching -OMIM:613301 FEZF1 skos:exactMatch ncbigene:389549 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:FAM13A-AS1 semapv:UnspecifiedMatching OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:FEZF1 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch ncbigene:389549 semapv:UnspecifiedMatching OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:ALKBH4 semapv:UnspecifiedMatching OMIM:613302 ALKBH4 skos:exactMatch ncbigene:54784 semapv:UnspecifiedMatching OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:ALKBH5 semapv:UnspecifiedMatching OMIM:613303 ALKBH5 skos:exactMatch ncbigene:54890 semapv:UnspecifiedMatching -OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:ALKBH6 semapv:UnspecifiedMatching OMIM:613304 ALKBH6 skos:exactMatch ncbigene:84964 semapv:UnspecifiedMatching -OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:ALKBH7 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:ALKBH6 semapv:UnspecifiedMatching OMIM:613305 ALKBH7 skos:exactMatch ncbigene:84266 semapv:UnspecifiedMatching -OMIM:613306 ALKBH8 skos:exactMatch ncbigene:91801 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:ALKBH7 semapv:UnspecifiedMatching OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:ALKBH8 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch ncbigene:91801 semapv:UnspecifiedMatching OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:LYRM4 semapv:UnspecifiedMatching OMIM:613311 LYRM4 skos:exactMatch ncbigene:57128 semapv:UnspecifiedMatching OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:RPL37A semapv:UnspecifiedMatching @@ -33466,20 +33470,20 @@ OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:RPL41 semapv:UnspecifiedMatching OMIM:613315 RPL41 skos:exactMatch ncbigene:6171 semapv:UnspecifiedMatching OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:WDFY4 semapv:UnspecifiedMatching OMIM:613316 WDFY4 skos:exactMatch ncbigene:57705 semapv:UnspecifiedMatching -OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:DCAF11 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:GXYLT1 semapv:UnspecifiedMatching OMIM:613321 GXYLT1 skos:exactMatch ncbigene:283464 semapv:UnspecifiedMatching OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:GXYLT2 semapv:UnspecifiedMatching OMIM:613322 GXYLT2 skos:exactMatch ncbigene:727936 semapv:UnspecifiedMatching OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:FRMPD2 semapv:UnspecifiedMatching OMIM:613323 FRMPD2 skos:exactMatch ncbigene:143162 semapv:UnspecifiedMatching -OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:SPATA13 semapv:UnspecifiedMatching OMIM:613324 SPATA13 skos:exactMatch ncbigene:221178 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:SPATA13 semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch ncbigene:1807 semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch hgnc.symbol:DPYS semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch UMLS:C1414144 semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch UMLS:C1414144 semapv:UnspecifiedMatching OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:MARCHF1 semapv:UnspecifiedMatching OMIM:613331 MARCHF1 skos:exactMatch ncbigene:55016 semapv:UnspecifiedMatching OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:MARCHF2 semapv:UnspecifiedMatching @@ -33517,10 +33521,10 @@ OMIM:613354 TPRN skos:exactMatch hgnc.symbol:TPRN semapv:UnspecifiedMatching OMIM:613354 TPRN skos:exactMatch ncbigene:286262 semapv:UnspecifiedMatching OMIM:613356 TRIL skos:exactMatch hgnc.symbol:TRIL semapv:UnspecifiedMatching OMIM:613356 TRIL skos:exactMatch ncbigene:9865 semapv:UnspecifiedMatching -OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:FIBCD1 semapv:UnspecifiedMatching OMIM:613357 FIBCD1 skos:exactMatch ncbigene:84929 semapv:UnspecifiedMatching -OMIM:613358 ALDH16A1 skos:exactMatch ncbigene:126133 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:FIBCD1 semapv:UnspecifiedMatching OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:ALDH16A1 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch ncbigene:126133 semapv:UnspecifiedMatching OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:LYPD6 semapv:UnspecifiedMatching OMIM:613359 LYPD6 skos:exactMatch ncbigene:130574 semapv:UnspecifiedMatching OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:DRAM2 semapv:UnspecifiedMatching @@ -33529,27 +33533,27 @@ OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:SLC18B1 semapv:UnspecifiedMatchi OMIM:613361 SLC18B1 skos:exactMatch ncbigene:116843 semapv:UnspecifiedMatching OMIM:613362 CINP skos:exactMatch hgnc.symbol:CINP semapv:UnspecifiedMatching OMIM:613362 CINP skos:exactMatch ncbigene:51550 semapv:UnspecifiedMatching -OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:DYNC2I2 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:SLCO6A1 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch ncbigene:133482 semapv:UnspecifiedMatching OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:SLC10A6 semapv:UnspecifiedMatching OMIM:613366 SLC10A6 skos:exactMatch ncbigene:345274 semapv:UnspecifiedMatching -OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:LIN54 semapv:UnspecifiedMatching OMIM:613367 LIN54 skos:exactMatch ncbigene:132660 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:LIN54 semapv:UnspecifiedMatching OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:CARNS1 semapv:UnspecifiedMatching OMIM:613368 CARNS1 skos:exactMatch ncbigene:57571 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching OMIM:613369 DDX42 skos:exactMatch UMLS:C1425699 semapv:UnspecifiedMatching OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:DDX42 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:UFL1 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch ncbigene:23376 semapv:UnspecifiedMatching -OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:YEATS2 semapv:UnspecifiedMatching OMIM:613373 YEATS2 skos:exactMatch ncbigene:55689 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:YEATS2 semapv:UnspecifiedMatching OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:SGF29 semapv:UnspecifiedMatching OMIM:613374 CCDC101 skos:exactMatch ncbigene:112869 semapv:UnspecifiedMatching -OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching +OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching OMIM:613377 SH3RF2 skos:exactMatch UMLS:C1428570 semapv:UnspecifiedMatching OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:SH3RF2 semapv:UnspecifiedMatching OMIM:613377 SH3RF2 skos:exactMatch ncbigene:153769 semapv:UnspecifiedMatching @@ -33567,10 +33571,10 @@ OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:CCNL1 semapv:UnspecifiedMatching OMIM:613384 CCNL1 skos:exactMatch ncbigene:57018 semapv:UnspecifiedMatching OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching -OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching OMIM:613386 POMP skos:exactMatch ncbigene:51371 semapv:UnspecifiedMatching -OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:SLCO1C1 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch UMLS:C1537791 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:MIR138-1 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch ncbigene:406929 semapv:UnspecifiedMatching @@ -33578,74 +33582,74 @@ OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:MIR138-2 semapv:UnspecifiedMatc OMIM:613395 MIR138-2 skos:exactMatch ncbigene:406930 semapv:UnspecifiedMatching OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:DSCR8 semapv:UnspecifiedMatching OMIM:613396 DSCR8 skos:exactMatch ncbigene:84677 semapv:UnspecifiedMatching -OMIM:613397 AVIL skos:exactMatch hgnc.symbol:AVIL semapv:UnspecifiedMatching OMIM:613397 AVIL skos:exactMatch ncbigene:10677 semapv:UnspecifiedMatching -OMIM:613398 warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch hgnc.symbol:AVIL semapv:UnspecifiedMatching OMIM:613398 warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching +OMIM:613398 warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:ADI1 semapv:UnspecifiedMatching OMIM:613400 ADI1 skos:exactMatch ncbigene:55256 semapv:UnspecifiedMatching OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:VIPAS39 semapv:UnspecifiedMatching OMIM:613401 VIPAS39 skos:exactMatch ncbigene:63894 semapv:UnspecifiedMatching -OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch ncbigene:55654 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:TMEM127 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch UMLS:C1823386 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch UMLS:C1823386 semapv:UnspecifiedMatching OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:MIR2861 semapv:UnspecifiedMatching OMIM:613405 MIR2861 skos:exactMatch ncbigene:100422910 semapv:UnspecifiedMatching -OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching OMIM:613408 CCDC122 skos:exactMatch ncbigene:160857 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:LACC1 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch UMLS:C1824389 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch ncbigene:144811 semapv:UnspecifiedMatching -OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching OMIM:613413 TMEM106B skos:exactMatch ncbigene:54664 semapv:UnspecifiedMatching -OMIM:613414 IL17REL skos:exactMatch ncbigene:400935 semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:IL17REL semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch ncbigene:400935 semapv:UnspecifiedMatching OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:CKMT1A semapv:UnspecifiedMatching OMIM:613415 CKMT1A skos:exactMatch ncbigene:548596 semapv:UnspecifiedMatching OMIM:613416 SCIN skos:exactMatch hgnc.symbol:SCIN semapv:UnspecifiedMatching OMIM:613416 SCIN skos:exactMatch ncbigene:85477 semapv:UnspecifiedMatching OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:SUPT20H semapv:UnspecifiedMatching OMIM:613417 FAM48A skos:exactMatch ncbigene:55578 semapv:UnspecifiedMatching -OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:ZSCAN4 semapv:UnspecifiedMatching OMIM:613419 ZSCAN4 skos:exactMatch ncbigene:201516 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch ncbigene:284252 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:KCTD1 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:ZSCAN4 semapv:UnspecifiedMatching OMIM:613420 KCTD1 skos:exactMatch UMLS:C1425395 semapv:UnspecifiedMatching OMIM:613420 KCTD1 skos:exactMatch UMLS:C1867020 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:KCTD1 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch ncbigene:284252 semapv:UnspecifiedMatching OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:KCTD10 semapv:UnspecifiedMatching OMIM:613421 KCTD10 skos:exactMatch ncbigene:83892 semapv:UnspecifiedMatching OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:KCTD2 semapv:UnspecifiedMatching OMIM:613422 KCTD2 skos:exactMatch ncbigene:23510 semapv:UnspecifiedMatching -OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:KCTD16 semapv:UnspecifiedMatching OMIM:613423 KCTD16 skos:exactMatch ncbigene:57528 semapv:UnspecifiedMatching -OMIM:613425 PCARE skos:exactMatch ncbigene:388939 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:KCTD16 semapv:UnspecifiedMatching OMIM:613425 PCARE skos:exactMatch hgnc.symbol:PCARE semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch ncbigene:388939 semapv:UnspecifiedMatching OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:ANAPC16 semapv:UnspecifiedMatching OMIM:613427 ANAPC16 skos:exactMatch ncbigene:119504 semapv:UnspecifiedMatching OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:HAUS2 semapv:UnspecifiedMatching OMIM:613429 HAUS2 skos:exactMatch ncbigene:55142 semapv:UnspecifiedMatching OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:HAUS3 semapv:UnspecifiedMatching OMIM:613430 HAUS3 skos:exactMatch ncbigene:79441 semapv:UnspecifiedMatching -OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:HAUS4 semapv:UnspecifiedMatching OMIM:613431 HAUS4 skos:exactMatch ncbigene:54930 semapv:UnspecifiedMatching -OMIM:613432 HAUS5 skos:exactMatch ncbigene:23354 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:HAUS4 semapv:UnspecifiedMatching OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:HAUS5 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch ncbigene:23354 semapv:UnspecifiedMatching OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:HAUS6 semapv:UnspecifiedMatching OMIM:613433 HAUS6 skos:exactMatch ncbigene:54801 semapv:UnspecifiedMatching OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:HAUS8 semapv:UnspecifiedMatching OMIM:613434 HAUS8 skos:exactMatch ncbigene:93323 semapv:UnspecifiedMatching OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:FCHO1 semapv:UnspecifiedMatching OMIM:613437 FCHO1 skos:exactMatch ncbigene:23149 semapv:UnspecifiedMatching -OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:FCHO2 semapv:UnspecifiedMatching OMIM:613438 FCHO2 skos:exactMatch ncbigene:115548 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:FCHO2 semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch ncbigene:163882 semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch hgnc.symbol:CNST semapv:UnspecifiedMatching -OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:TCN2 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:PTX4 semapv:UnspecifiedMatching OMIM:613442 PTX4 skos:exactMatch ncbigene:390667 semapv:UnspecifiedMatching OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:CEP120 semapv:UnspecifiedMatching @@ -33654,28 +33658,28 @@ OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:SPICE1 semapv:UnspecifiedMatching OMIM:613447 SPICE1 skos:exactMatch ncbigene:152185 semapv:UnspecifiedMatching OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:MZT1 semapv:UnspecifiedMatching OMIM:613448 MZT1 skos:exactMatch ncbigene:440145 semapv:UnspecifiedMatching -OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:MZT2A semapv:UnspecifiedMatching OMIM:613449 FAM128A skos:exactMatch ncbigene:653784 semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:MZT2A semapv:UnspecifiedMatching OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:MZT2B semapv:UnspecifiedMatching OMIM:613450 MZT2B skos:exactMatch ncbigene:80097 semapv:UnspecifiedMatching OMIM:613451 frontonasal dysplasia 2 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching OMIM:613451 frontonasal dysplasia 2 skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:CATSPERG semapv:UnspecifiedMatching OMIM:613452 CATSPERG skos:exactMatch ncbigene:57828 semapv:UnspecifiedMatching -OMIM:613455 MIA3 skos:exactMatch ncbigene:375056 semapv:UnspecifiedMatching OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:MIA3 semapv:UnspecifiedMatching -OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch ncbigene:375056 semapv:UnspecifiedMatching OMIM:613456 frontonasal dysplasia 3 skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching +OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:LEPROT semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch ncbigene:54741 semapv:UnspecifiedMatching OMIM:613465 NME7 skos:exactMatch hgnc.symbol:NME7 semapv:UnspecifiedMatching OMIM:613465 NME7 skos:exactMatch ncbigene:29922 semapv:UnspecifiedMatching -OMIM:613466 PFDN2 skos:exactMatch ncbigene:5202 semapv:UnspecifiedMatching OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:PFDN2 semapv:UnspecifiedMatching -OMIM:613467 ZCCHC6 skos:exactMatch ncbigene:79670 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch ncbigene:5202 semapv:UnspecifiedMatching OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:TUT7 semapv:UnspecifiedMatching -OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:ASAH1 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch ncbigene:79670 semapv:UnspecifiedMatching OMIM:613468 ASAH1 skos:exactMatch ncbigene:427 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:ASAH1 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:HPSE2 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch ncbigene:60495 semapv:UnspecifiedMatching OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching @@ -33684,47 +33688,47 @@ OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:ULK3 semapv:UnspecifiedMatching OMIM:613472 ULK3 skos:exactMatch ncbigene:25989 semapv:UnspecifiedMatching OMIM:613473 WDR7 skos:exactMatch ncbigene:23335 semapv:UnspecifiedMatching OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:WDR7 semapv:UnspecifiedMatching -OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:ZFAND2B semapv:UnspecifiedMatching OMIM:613474 ZFAND2B skos:exactMatch ncbigene:130617 semapv:UnspecifiedMatching -OMIM:613475 RRP36 skos:exactMatch ncbigene:88745 semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:ZFAND2B semapv:UnspecifiedMatching OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:RRP36 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch ncbigene:88745 semapv:UnspecifiedMatching OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:MFSD6 semapv:UnspecifiedMatching OMIM:613476 MFSD6 skos:exactMatch ncbigene:54842 semapv:UnspecifiedMatching OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:CCDC106 semapv:UnspecifiedMatching OMIM:613478 CCDC106 skos:exactMatch ncbigene:29903 semapv:UnspecifiedMatching -OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:CEP131 semapv:UnspecifiedMatching OMIM:613479 CEP131 skos:exactMatch ncbigene:22994 semapv:UnspecifiedMatching -OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch ncbigene:84660 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:CEP131 semapv:UnspecifiedMatching OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:CCDC62 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch ncbigene:84660 semapv:UnspecifiedMatching OMIM:613482 CCNL2 skos:exactMatch UMLS:C1427009 semapv:UnspecifiedMatching OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:CCNL2 semapv:UnspecifiedMatching OMIM:613482 CCNL2 skos:exactMatch ncbigene:81669 semapv:UnspecifiedMatching OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:BHLHE22 semapv:UnspecifiedMatching OMIM:613483 BHLHE22 skos:exactMatch ncbigene:27319 semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch hgnc.symbol:SPEN semapv:UnspecifiedMatching OMIM:613484 SPEN skos:exactMatch ncbigene:23013 semapv:UnspecifiedMatching OMIM:613484 SPEN skos:exactMatch UMLS:C1539835 semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch hgnc.symbol:SPEN semapv:UnspecifiedMatching -OMIM:613486 MIR33B skos:exactMatch ncbigene:693120 semapv:UnspecifiedMatching OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:MIR33B semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch ncbigene:693120 semapv:UnspecifiedMatching OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:MIR212 semapv:UnspecifiedMatching OMIM:613487 MIR212 skos:exactMatch ncbigene:406994 semapv:UnspecifiedMatching OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:ACER1 semapv:UnspecifiedMatching OMIM:613491 ACER1 skos:exactMatch ncbigene:125981 semapv:UnspecifiedMatching -OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:ACER2 semapv:UnspecifiedMatching OMIM:613492 ACER2 skos:exactMatch ncbigene:340485 semapv:UnspecifiedMatching -OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:ACER2 semapv:UnspecifiedMatching OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching -OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching +OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching OMIM:613497 LIPA skos:exactMatch hgnc.symbol:LIPA semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:H2AC1 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch ncbigene:221613 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching -OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:HLA-DQA2 semapv:UnspecifiedMatching OMIM:613503 HLA-DQA2 skos:exactMatch ncbigene:3118 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:HLA-DQA2 semapv:UnspecifiedMatching OMIM:613504 ZFYVE21 skos:exactMatch ncbigene:79038 semapv:UnspecifiedMatching OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:ZFYVE21 semapv:UnspecifiedMatching OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:LRRC26 semapv:UnspecifiedMatching @@ -33745,27 +33749,27 @@ OMIM:613515 ATG14 skos:exactMatch UMLS:C3146639 semapv:UnspecifiedMatching OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:ATG14 semapv:UnspecifiedMatching OMIM:613515 ATG14 skos:exactMatch ncbigene:22863 semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch ncbigene:9711 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch UMLS:C1537447 semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:RUBCN semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch UMLS:C1537447 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:FGD6 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch ncbigene:55785 semapv:UnspecifiedMatching OMIM:613521 UROD skos:exactMatch hgnc.symbol:UROD semapv:UnspecifiedMatching OMIM:613521 UROD skos:exactMatch ncbigene:7389 semapv:UnspecifiedMatching OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:OPN1SW semapv:UnspecifiedMatching OMIM:613522 OPN1SW skos:exactMatch ncbigene:611 semapv:UnspecifiedMatching -OMIM:613524 SDCCAG8 skos:exactMatch ncbigene:10806 semapv:UnspecifiedMatching OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:SDCCAG8 semapv:UnspecifiedMatching -OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:PSORS1C1 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch ncbigene:10806 semapv:UnspecifiedMatching OMIM:613525 seek1 gene skos:exactMatch ncbigene:170679 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:PSORS1C1 semapv:UnspecifiedMatching OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:PSORS1C2 semapv:UnspecifiedMatching OMIM:613526 spr1 gene skos:exactMatch ncbigene:170680 semapv:UnspecifiedMatching OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:DNAJC27 semapv:UnspecifiedMatching OMIM:613527 DNAJC27 skos:exactMatch ncbigene:51277 semapv:UnspecifiedMatching OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:SYT9 semapv:UnspecifiedMatching OMIM:613528 SYT9 skos:exactMatch ncbigene:143425 semapv:UnspecifiedMatching -OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching OMIM:613529 CEP152 skos:exactMatch ncbigene:22995 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch ncbigene:11191 semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:PTENP1 semapv:UnspecifiedMatching OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:RAB8B semapv:UnspecifiedMatching @@ -33804,8 +33808,8 @@ OMIM:613555 TET3 skos:exactMatch UMLS:C5394586 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch UMLS:C5394587 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch hgnc.symbol:TET3 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch ncbigene:200424 semapv:UnspecifiedMatching -OMIM:613556 MIR659 skos:exactMatch ncbigene:724029 semapv:UnspecifiedMatching OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:MIR659 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch ncbigene:724029 semapv:UnspecifiedMatching OMIM:613560 NTMT1 skos:exactMatch ncbigene:28989 semapv:UnspecifiedMatching OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:NTMT1 semapv:UnspecifiedMatching OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:FCRL6 semapv:UnspecifiedMatching @@ -33814,8 +33818,8 @@ OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:UBE4B semapv:UnspecifiedMatching OMIM:613565 UBE4B skos:exactMatch ncbigene:10277 semapv:UnspecifiedMatching OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:ZMYM6 semapv:UnspecifiedMatching OMIM:613567 ZMYM6 skos:exactMatch ncbigene:9204 semapv:UnspecifiedMatching -OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:ZMYM4 semapv:UnspecifiedMatching OMIM:613568 ZMYM4 skos:exactMatch ncbigene:9202 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:ZMYM4 semapv:UnspecifiedMatching OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:SUN2 semapv:UnspecifiedMatching OMIM:613569 SUN2 skos:exactMatch ncbigene:25777 semapv:UnspecifiedMatching OMIM:613570 LDAH skos:exactMatch ncbigene:60526 semapv:UnspecifiedMatching @@ -33824,56 +33828,56 @@ OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:GPRC6A semapv:UnspecifiedMatching OMIM:613572 GPRC6A skos:exactMatch ncbigene:222545 semapv:UnspecifiedMatching OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:TTC39B semapv:UnspecifiedMatching OMIM:613574 TTC39B skos:exactMatch ncbigene:158219 semapv:UnspecifiedMatching -OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching OMIM:613575 retinitis pigmentosa 55 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch ncbigene:57465 semapv:UnspecifiedMatching +OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:TBC1D24 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3892048 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch ncbigene:57465 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1823245 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C2829265 semapv:UnspecifiedMatching OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:PRSS3 semapv:UnspecifiedMatching OMIM:613578 PRSS3 skos:exactMatch ncbigene:5646 semapv:UnspecifiedMatching OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:CLEC6A semapv:UnspecifiedMatching OMIM:613579 CLEC6A skos:exactMatch ncbigene:93978 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C4017316 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:WDPCP semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C2681211 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C4017315 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C4017316 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch ncbigene:51057 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C4017318 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C3501830 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C2681211 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch ncbigene:284403 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C1823826 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:WDR62 semapv:UnspecifiedMatching -OMIM:613584 ALDH1L2 skos:exactMatch ncbigene:160428 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C4017318 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C1823826 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C3501830 semapv:UnspecifiedMatching OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:ALDH1L2 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch ncbigene:160428 semapv:UnspecifiedMatching OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:TMEM147 semapv:UnspecifiedMatching OMIM:613585 TMEM147 skos:exactMatch ncbigene:10430 semapv:UnspecifiedMatching OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:NOB1 semapv:UnspecifiedMatching OMIM:613586 NOB1 skos:exactMatch ncbigene:28987 semapv:UnspecifiedMatching -OMIM:613587 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching OMIM:613587 occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching +OMIM:613587 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:CLEC3A semapv:UnspecifiedMatching OMIM:613588 CLEC3A skos:exactMatch ncbigene:10143 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch ncbigene:11120 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:BTN2A1 semapv:UnspecifiedMatching OMIM:613590 BTN2A1 skos:exactMatch UMLS:C1412843 semapv:UnspecifiedMatching -OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:BTN2A2 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:BTN2A1 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch ncbigene:11120 semapv:UnspecifiedMatching OMIM:613591 BTN2A2 skos:exactMatch ncbigene:10385 semapv:UnspecifiedMatching -OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:BTN2A3P semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:BTN2A2 semapv:UnspecifiedMatching OMIM:613592 BTN2A3 skos:exactMatch ncbigene:54718 semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:BTN2A3P semapv:UnspecifiedMatching OMIM:613593 BTN3A1 skos:exactMatch UMLS:C1412845 semapv:UnspecifiedMatching OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:BTN3A1 semapv:UnspecifiedMatching OMIM:613593 BTN3A1 skos:exactMatch ncbigene:11119 semapv:UnspecifiedMatching -OMIM:613594 BTN3A2 skos:exactMatch ncbigene:11118 semapv:UnspecifiedMatching OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:BTN3A2 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch ncbigene:11118 semapv:UnspecifiedMatching OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:BTN3A3 semapv:UnspecifiedMatching OMIM:613595 BTN3A3 skos:exactMatch ncbigene:10384 semapv:UnspecifiedMatching OMIM:613596 FAM161A skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching @@ -33882,111 +33886,111 @@ OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:FAM161A semapv:UnspecifiedMatchi OMIM:613596 FAM161A skos:exactMatch ncbigene:84140 semapv:UnspecifiedMatching OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:HOGA1 semapv:UnspecifiedMatching OMIM:613597 HOGA1 skos:exactMatch ncbigene:112817 semapv:UnspecifiedMatching -OMIM:613598 ZNF513 skos:exactMatch ncbigene:130557 semapv:UnspecifiedMatching OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:ZNF513 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch UMLS:C1825822 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch ncbigene:130557 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:ABHD12 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch UMLS:C1825822 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch ncbigene:26090 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:WDR35 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C4694035 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch ncbigene:57539 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C4694035 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:WDR35 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C1428820 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C4017319 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C1428820 semapv:UnspecifiedMatching OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome skos:exactMatch UMLS:C3150857 semapv:UnspecifiedMatching OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:BBIP1 semapv:UnspecifiedMatching OMIM:613605 BBIP1 skos:exactMatch ncbigene:92482 semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:THEMIS semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch ncbigene:387357 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch hgnc.symbol:HFE semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C4017322 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C4017321 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C3469186 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C3280096 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch ncbigene:3077 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C2673520 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C2673518 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C2673517 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch hgnc.symbol:HFE semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C1384665 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C2673520 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch ncbigene:3077 semapv:UnspecifiedMatching -OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching +OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:MIR208B semapv:UnspecifiedMatching OMIM:613613 MIR208B skos:exactMatch ncbigene:100126336 semapv:UnspecifiedMatching -OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:MIR499A semapv:UnspecifiedMatching OMIM:613614 MIR499 skos:exactMatch ncbigene:574501 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:MIR499A semapv:UnspecifiedMatching OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch UMLS:C3150878 semapv:UnspecifiedMatching OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching -OMIM:613619 SCARF2 skos:exactMatch ncbigene:91179 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:SCARF2 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch ncbigene:91179 semapv:UnspecifiedMatching OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:TBC1D10B semapv:UnspecifiedMatching OMIM:613620 TBC1D10B skos:exactMatch ncbigene:26000 semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch UMLS:C1538495 semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:NUBPL semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch ncbigene:80224 semapv:UnspecifiedMatching -OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:FOXRED1 semapv:UnspecifiedMatching OMIM:613622 FOXRED1 skos:exactMatch ncbigene:55572 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:FOXRED1 semapv:UnspecifiedMatching OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:ZNF592 semapv:UnspecifiedMatching OMIM:613624 ZNF592 skos:exactMatch ncbigene:9640 semapv:UnspecifiedMatching -OMIM:613629 PIEZO2 skos:exactMatch ncbigene:63895 semapv:UnspecifiedMatching OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:PIEZO2 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch ncbigene:63895 semapv:UnspecifiedMatching OMIM:613630 fetal encasement syndrome skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching OMIM:613630 fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:WASHC2C semapv:UnspecifiedMatching OMIM:613631 WASHC2C skos:exactMatch ncbigene:253725 semapv:UnspecifiedMatching -OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:WASHC1 semapv:UnspecifiedMatching OMIM:613632 WASHC1 skos:exactMatch ncbigene:100287171 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:WASHC1 semapv:UnspecifiedMatching OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:DENND1A semapv:UnspecifiedMatching OMIM:613633 DENND1A skos:exactMatch ncbigene:57706 semapv:UnspecifiedMatching -OMIM:613634 DENND1C skos:exactMatch ncbigene:79958 semapv:UnspecifiedMatching OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:DENND1C semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch ncbigene:79958 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C1539340 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:EIF2AK1 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch ncbigene:27102 semapv:UnspecifiedMatching -OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching OMIM:613639 ADGRD1 skos:exactMatch ncbigene:283383 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch UMLS:C3150898 semapv:UnspecifiedMatching OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:613644 ATF7IP skos:exactMatch ncbigene:55729 semapv:UnspecifiedMatching OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:ATF7IP semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch ncbigene:55729 semapv:UnspecifiedMatching OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:ATF7IP2 semapv:UnspecifiedMatching OMIM:613645 ATF7IP2 skos:exactMatch ncbigene:80063 semapv:UnspecifiedMatching -OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:MEG8 semapv:UnspecifiedMatching OMIM:613648 MEG8 skos:exactMatch ncbigene:79104 semapv:UnspecifiedMatching -OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:SNORD112 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:MEG8 semapv:UnspecifiedMatching OMIM:613649 SNORD112 skos:exactMatch ncbigene:692215 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:SNORD112 semapv:UnspecifiedMatching OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:SNORD113-1 semapv:UnspecifiedMatching OMIM:613650 SNORD113-1 skos:exactMatch ncbigene:767561 semapv:UnspecifiedMatching -OMIM:613651 SNORD114-1 skos:exactMatch ncbigene:767577 semapv:UnspecifiedMatching OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:SNORD114-1 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch ncbigene:767577 semapv:UnspecifiedMatching OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:AP5Z1 semapv:UnspecifiedMatching OMIM:613653 AP5Z1 skos:exactMatch ncbigene:9907 semapv:UnspecifiedMatching -OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:MIR380 semapv:UnspecifiedMatching OMIM:613654 MIR380 skos:exactMatch ncbigene:494329 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch UMLS:C1537435 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:KCNK18 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:MIR380 semapv:UnspecifiedMatching OMIM:613655 KCNK18 skos:exactMatch ncbigene:338567 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:KCNK18 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch UMLS:C1537435 semapv:UnspecifiedMatching OMIM:613656 migraine with or without aura, susceptibility to, 13 skos:exactMatch UMLS:C3150908 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C3150910 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:SHQ1 semapv:UnspecifiedMatching OMIM:613663 SHQ1 skos:exactMatch ncbigene:55164 semapv:UnspecifiedMatching -OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:SMTNL1 semapv:UnspecifiedMatching OMIM:613664 SMTNL1 skos:exactMatch ncbigene:219537 semapv:UnspecifiedMatching -OMIM:613665 ACKR1 skos:exactMatch ncbigene:2532 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:SMTNL1 semapv:UnspecifiedMatching OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:ACKR1 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch ncbigene:2532 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch UMLS:C1876205 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:ALG11 semapv:UnspecifiedMatching @@ -33995,31 +33999,31 @@ OMIM:613667 SOBP skos:exactMatch hgnc.symbol:SOBP semapv:UnspecifiedMatching OMIM:613667 SOBP skos:exactMatch ncbigene:55084 semapv:UnspecifiedMatching OMIM:613669 MTPAP skos:exactMatch ncbigene:55149 semapv:UnspecifiedMatching OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:MTPAP semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch UMLS:C3150928 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching -OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:MIR130B semapv:UnspecifiedMatching OMIM:613682 MIR130B skos:exactMatch ncbigene:406920 semapv:UnspecifiedMatching -OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:MIR130B semapv:UnspecifiedMatching OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:SLC50A1 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:PARPBP semapv:UnspecifiedMatching OMIM:613687 PARPBP skos:exactMatch ncbigene:55010 semapv:UnspecifiedMatching OMIM:613689 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching OMIM:613689 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching -OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:GRAMD4 semapv:UnspecifiedMatching OMIM:613691 GRAMD4 skos:exactMatch ncbigene:23151 semapv:UnspecifiedMatching -OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:TUT4 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:GRAMD4 semapv:UnspecifiedMatching OMIM:613692 TUT4 skos:exactMatch ncbigene:23318 semapv:UnspecifiedMatching -OMIM:613696 UBTFL1 skos:exactMatch ncbigene:642623 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:TUT4 semapv:UnspecifiedMatching OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:UBTFL1 semapv:UnspecifiedMatching -OMIM:613698 SLC25A20 skos:exactMatch ncbigene:788 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch ncbigene:642623 semapv:UnspecifiedMatching OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:SLC25A20 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch ncbigene:788 semapv:UnspecifiedMatching OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:GLT6D1 semapv:UnspecifiedMatching OMIM:613699 GLT6D1 skos:exactMatch ncbigene:360203 semapv:UnspecifiedMatching OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:MIR328 semapv:UnspecifiedMatching @@ -34028,16 +34032,16 @@ OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:EIF2D semapv:UnspecifiedMatching OMIM:613709 EIF2D skos:exactMatch ncbigene:1939 semapv:UnspecifiedMatching OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:PCID2 semapv:UnspecifiedMatching OMIM:613713 PCID2 skos:exactMatch ncbigene:55795 semapv:UnspecifiedMatching -OMIM:613714 b7 homolog 6 skos:exactMatch hgnc.symbol:NCR3LG1 semapv:UnspecifiedMatching -OMIM:613714 b7 homolog 6 skos:exactMatch ncbigene:374383 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:NCR3LG1 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch ncbigene:374383 semapv:UnspecifiedMatching OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:POLR1D semapv:UnspecifiedMatching OMIM:613715 POLR1D skos:exactMatch ncbigene:51082 semapv:UnspecifiedMatching -OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:MIR661 semapv:UnspecifiedMatching OMIM:613716 MIR661 skos:exactMatch ncbigene:724031 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:MSRB3 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch ncbigene:253827 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:MIR661 semapv:UnspecifiedMatching OMIM:613719 MSRB3 skos:exactMatch UMLS:C1537982 semapv:UnspecifiedMatching OMIM:613719 MSRB3 skos:exactMatch UMLS:C2239351 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:MSRB3 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch ncbigene:253827 semapv:UnspecifiedMatching OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching @@ -34045,124 +34049,124 @@ OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch Orphan OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:613725 SLC25A27 skos:exactMatch ncbigene:9481 semapv:UnspecifiedMatching OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:SLC25A27 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch ncbigene:9481 semapv:UnspecifiedMatching OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:ANO10 semapv:UnspecifiedMatching OMIM:613726 ANO10 skos:exactMatch ncbigene:55129 semapv:UnspecifiedMatching -OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:KBTBD13 semapv:UnspecifiedMatching OMIM:613727 KBTBD13 skos:exactMatch ncbigene:390594 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:KBTBD13 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4479701 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch ncbigene:4221 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:MEN1 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4479701 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4017332 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C4017331 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C2675664 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4017332 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C4017330 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C2675664 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C0694884 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:CCDC115 semapv:UnspecifiedMatching OMIM:613734 CCDC115 skos:exactMatch ncbigene:84317 semapv:UnspecifiedMatching -OMIM:613738 AGMO skos:exactMatch hgnc.symbol:AGMO semapv:UnspecifiedMatching OMIM:613738 AGMO skos:exactMatch ncbigene:392636 semapv:UnspecifiedMatching -OMIM:613739 THYN1 skos:exactMatch ncbigene:29087 semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch hgnc.symbol:AGMO semapv:UnspecifiedMatching OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:THYN1 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch ncbigene:29087 semapv:UnspecifiedMatching OMIM:613741 PYGL skos:exactMatch hgnc.symbol:PYGL semapv:UnspecifiedMatching OMIM:613741 PYGL skos:exactMatch ncbigene:5836 semapv:UnspecifiedMatching OMIM:613742 G6PC skos:exactMatch hgnc.symbol:G6PC1 semapv:UnspecifiedMatching OMIM:613742 G6PC skos:exactMatch ncbigene:2538 semapv:UnspecifiedMatching OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:ANAPC10 semapv:UnspecifiedMatching OMIM:613745 ANAPC10 skos:exactMatch ncbigene:10393 semapv:UnspecifiedMatching -OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:BCAR4 semapv:UnspecifiedMatching OMIM:613746 BCAR4 skos:exactMatch ncbigene:400500 semapv:UnspecifiedMatching -OMIM:613747 KIF24 skos:exactMatch ncbigene:347240 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:BCAR4 semapv:UnspecifiedMatching OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:KIF24 semapv:UnspecifiedMatching -OMIM:613748 CHCHD3 skos:exactMatch ncbigene:54927 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch ncbigene:347240 semapv:UnspecifiedMatching OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:CHCHD3 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch ncbigene:54927 semapv:UnspecifiedMatching OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:ZNF260 semapv:UnspecifiedMatching OMIM:613749 ZNF260 skos:exactMatch ncbigene:339324 semapv:UnspecifiedMatching -OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching -OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:MIR211 semapv:UnspecifiedMatching +OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching OMIM:613753 MIR211 skos:exactMatch ncbigene:406993 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:MIR211 semapv:UnspecifiedMatching OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:RNF187 semapv:UnspecifiedMatching OMIM:613754 RNF187 skos:exactMatch ncbigene:149603 semapv:UnspecifiedMatching -OMIM:613755 MIR326 skos:exactMatch ncbigene:442900 semapv:UnspecifiedMatching OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:MIR326 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch ncbigene:442900 semapv:UnspecifiedMatching OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:SLC36A4 semapv:UnspecifiedMatching OMIM:613760 SLC36A4 skos:exactMatch ncbigene:120103 semapv:UnspecifiedMatching -OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:SCAMP4 semapv:UnspecifiedMatching OMIM:613764 SCAMP4 skos:exactMatch ncbigene:113178 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch UMLS:C1428974 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:SCAMP4 semapv:UnspecifiedMatching OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:SCAMP5 semapv:UnspecifiedMatching OMIM:613766 SCAMP5 skos:exactMatch ncbigene:192683 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch UMLS:C1428974 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:RNF213 semapv:UnspecifiedMatching OMIM:613768 RNF213 skos:exactMatch ncbigene:57674 semapv:UnspecifiedMatching -OMIM:613770 PLAC4 skos:exactMatch ncbigene:191585 semapv:UnspecifiedMatching OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:PLAC4 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch ncbigene:191585 semapv:UnspecifiedMatching OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:TMEM205 semapv:UnspecifiedMatching OMIM:613771 TMEM205 skos:exactMatch ncbigene:374882 semapv:UnspecifiedMatching -OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:KLHL14 semapv:UnspecifiedMatching OMIM:613772 KLHL14 skos:exactMatch ncbigene:57565 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:KLHL14 semapv:UnspecifiedMatching OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:IGSF9B semapv:UnspecifiedMatching OMIM:613773 IGSF9B skos:exactMatch ncbigene:22997 semapv:UnspecifiedMatching OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:CAMSAP1 semapv:UnspecifiedMatching OMIM:613774 CAMSAP1 skos:exactMatch ncbigene:157922 semapv:UnspecifiedMatching -OMIM:613775 CAMSAP2 skos:exactMatch ncbigene:23271 semapv:UnspecifiedMatching OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:CAMSAP2 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch ncbigene:23271 semapv:UnspecifiedMatching OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:FOXRED2 semapv:UnspecifiedMatching OMIM:613777 FOXRED2 skos:exactMatch ncbigene:80020 semapv:UnspecifiedMatching OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching -OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:CCDC125 semapv:UnspecifiedMatching OMIM:613781 CCDC125 skos:exactMatch ncbigene:202243 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:CCDC125 semapv:UnspecifiedMatching OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:MSRB2 semapv:UnspecifiedMatching OMIM:613782 MSRB2 skos:exactMatch ncbigene:22921 semapv:UnspecifiedMatching -OMIM:613785 C1R skos:exactMatch ncbigene:715 semapv:UnspecifiedMatching OMIM:613785 C1R skos:exactMatch hgnc.symbol:C1R semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch ncbigene:715 semapv:UnspecifiedMatching OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:MIR148A semapv:UnspecifiedMatching OMIM:613786 MIR148A skos:exactMatch ncbigene:406940 semapv:UnspecifiedMatching OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:MIR148B semapv:UnspecifiedMatching OMIM:613787 MIR148B skos:exactMatch ncbigene:442892 semapv:UnspecifiedMatching -OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:MIR152 semapv:UnspecifiedMatching OMIM:613788 MIR152 skos:exactMatch ncbigene:406943 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:MIR152 semapv:UnspecifiedMatching OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:PRSS33 semapv:UnspecifiedMatching OMIM:613797 PRSS33 skos:exactMatch ncbigene:260429 semapv:UnspecifiedMatching -OMIM:613798 CCDC39 skos:exactMatch ncbigene:339829 semapv:UnspecifiedMatching OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:CCDC39 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch ncbigene:339829 semapv:UnspecifiedMatching OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:CCDC40 semapv:UnspecifiedMatching OMIM:613799 CCDC40 skos:exactMatch ncbigene:55036 semapv:UnspecifiedMatching OMIM:613802 MLEC skos:exactMatch hgnc.symbol:MLEC semapv:UnspecifiedMatching OMIM:613802 MLEC skos:exactMatch ncbigene:9761 semapv:UnspecifiedMatching -OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:MDM1 semapv:UnspecifiedMatching OMIM:613813 MDM1 skos:exactMatch ncbigene:56890 semapv:UnspecifiedMatching -OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:TTC19 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:MDM1 semapv:UnspecifiedMatching OMIM:613814 TTC19 skos:exactMatch ncbigene:54902 semapv:UnspecifiedMatching -OMIM:613815 CYP21A2 skos:exactMatch ncbigene:1589 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:TTC19 semapv:UnspecifiedMatching OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:CYP21A2 semapv:UnspecifiedMatching -OMIM:613816 UBR7 skos:exactMatch ncbigene:55148 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch ncbigene:1589 semapv:UnspecifiedMatching OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:UBR7 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch ncbigene:55148 semapv:UnspecifiedMatching OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:SPATS2L semapv:UnspecifiedMatching OMIM:613817 SPATS2L skos:exactMatch ncbigene:26010 semapv:UnspecifiedMatching OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:PPP3R2 semapv:UnspecifiedMatching OMIM:613821 PPP3R2 skos:exactMatch ncbigene:5535 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch UMLS:C1425429 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:PPP4R2 semapv:UnspecifiedMatching OMIM:613822 PPP4R2 skos:exactMatch ncbigene:151987 semapv:UnspecifiedMatching -OMIM:613823 seckel syndrome 5 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:PPP4R2 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch UMLS:C1425429 semapv:UnspecifiedMatching OMIM:613823 seckel syndrome 5 skos:exactMatch UMLS:C3151187 semapv:UnspecifiedMatching +OMIM:613823 seckel syndrome 5 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:UBR3 semapv:UnspecifiedMatching OMIM:613831 UBR3 skos:exactMatch ncbigene:130507 semapv:UnspecifiedMatching OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:KANSL1L semapv:UnspecifiedMatching OMIM:613833 KANSL1L skos:exactMatch ncbigene:151050 semapv:UnspecifiedMatching OMIM:613834 multisystemic smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching OMIM:613834 multisystemic smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching -OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:ZNF304 semapv:UnspecifiedMatching OMIM:613840 ZNF304 skos:exactMatch ncbigene:57343 semapv:UnspecifiedMatching -OMIM:613841 UBN2 skos:exactMatch ncbigene:254048 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:ZNF304 semapv:UnspecifiedMatching OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:UBN2 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch ncbigene:254048 semapv:UnspecifiedMatching OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:GZF1 semapv:UnspecifiedMatching OMIM:613842 GZF1 skos:exactMatch ncbigene:64412 semapv:UnspecifiedMatching OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:UQCRH semapv:UnspecifiedMatching @@ -34171,44 +34175,44 @@ OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching OMIM:613846 TCTN2 skos:exactMatch ncbigene:79867 semapv:UnspecifiedMatching OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:TCTN2 semapv:UnspecifiedMatching -OMIM:613847 TCTN3 skos:exactMatch ncbigene:26123 semapv:UnspecifiedMatching OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:TCTN3 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch ncbigene:26123 semapv:UnspecifiedMatching OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:PRIMA1 semapv:UnspecifiedMatching OMIM:613851 PRIMA1 skos:exactMatch ncbigene:145270 semapv:UnspecifiedMatching OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:PRSS56 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch ncbigene:646960 semapv:UnspecifiedMatching -OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:UMODL1 semapv:UnspecifiedMatching OMIM:613859 UMODL1 skos:exactMatch ncbigene:89766 semapv:UnspecifiedMatching -OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:UMODL1 semapv:UnspecifiedMatching OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:ZNF317 semapv:UnspecifiedMatching -OMIM:613866 PLAAT2 skos:exactMatch ncbigene:54979 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:PLAAT2 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch ncbigene:54979 semapv:UnspecifiedMatching OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:PLAAT3 semapv:UnspecifiedMatching OMIM:613867 PLAAT3 skos:exactMatch ncbigene:11145 semapv:UnspecifiedMatching OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:SLC14A1 semapv:UnspecifiedMatching OMIM:613868 SLC14A1 skos:exactMatch ncbigene:6563 semapv:UnspecifiedMatching -OMIM:613871 FAH skos:exactMatch hgnc.symbol:FAH semapv:UnspecifiedMatching OMIM:613871 FAH skos:exactMatch ncbigene:2184 semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch hgnc.symbol:FAH semapv:UnspecifiedMatching OMIM:613872 F10 skos:exactMatch hgnc.symbol:F10 semapv:UnspecifiedMatching OMIM:613872 F10 skos:exactMatch ncbigene:2159 semapv:UnspecifiedMatching OMIM:613878 F7 skos:exactMatch hgnc.symbol:F7 semapv:UnspecifiedMatching OMIM:613878 F7 skos:exactMatch ncbigene:2155 semapv:UnspecifiedMatching -OMIM:613879 TRH skos:exactMatch ncbigene:7200 semapv:UnspecifiedMatching OMIM:613879 TRH skos:exactMatch hgnc.symbol:TRH semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch ncbigene:7200 semapv:UnspecifiedMatching OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:BAHD1 semapv:UnspecifiedMatching OMIM:613880 BAHD1 skos:exactMatch ncbigene:22893 semapv:UnspecifiedMatching -OMIM:613883 KEL skos:exactMatch hgnc.symbol:KEL semapv:UnspecifiedMatching OMIM:613883 KEL skos:exactMatch ncbigene:3792 semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch hgnc.symbol:KEL semapv:UnspecifiedMatching OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:RHOT1 semapv:UnspecifiedMatching OMIM:613888 RHOT1 skos:exactMatch ncbigene:55288 semapv:UnspecifiedMatching OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:RHOT2 semapv:UnspecifiedMatching OMIM:613889 RHOT2 skos:exactMatch ncbigene:89941 semapv:UnspecifiedMatching -OMIM:613890 HSD3B2 skos:exactMatch ncbigene:3284 semapv:UnspecifiedMatching OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:HSD3B2 semapv:UnspecifiedMatching -OMIM:613891 UMPS skos:exactMatch hgnc.symbol:UMPS semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch ncbigene:3284 semapv:UnspecifiedMatching OMIM:613891 UMPS skos:exactMatch ncbigene:7372 semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch hgnc.symbol:UMPS semapv:UnspecifiedMatching OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:DPY19L1 semapv:UnspecifiedMatching OMIM:613892 DPY19L1 skos:exactMatch ncbigene:23333 semapv:UnspecifiedMatching OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:DPY19L2 semapv:UnspecifiedMatching @@ -34217,67 +34221,67 @@ OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:DPY19L3 semapv:UnspecifiedMatchi OMIM:613894 DPY19L3 skos:exactMatch ncbigene:147991 semapv:UnspecifiedMatching OMIM:613895 DPY19L4 skos:exactMatch ncbigene:286148 semapv:UnspecifiedMatching OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:DPY19L4 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch UMLS:C1412816 semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch hgnc.symbol:BPGM semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch ncbigene:669 semapv:UnspecifiedMatching OMIM:613897 FANCF skos:exactMatch hgnc.symbol:FANCF semapv:UnspecifiedMatching OMIM:613897 FANCF skos:exactMatch ncbigene:2188 semapv:UnspecifiedMatching OMIM:613898 HMGCL skos:exactMatch ncbigene:3155 semapv:UnspecifiedMatching OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:HMGCL semapv:UnspecifiedMatching -OMIM:613899 FANCC skos:exactMatch ncbigene:2176 semapv:UnspecifiedMatching OMIM:613899 FANCC skos:exactMatch hgnc.symbol:FANCC semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch ncbigene:2176 semapv:UnspecifiedMatching OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:TGM6 semapv:UnspecifiedMatching OMIM:613900 TGM6 skos:exactMatch ncbigene:343641 semapv:UnspecifiedMatching OMIM:613901 RTCB skos:exactMatch hgnc.symbol:RTCB semapv:UnspecifiedMatching OMIM:613901 RTCB skos:exactMatch ncbigene:51493 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch UMLS:C1428140 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:ZNF503 semapv:UnspecifiedMatching OMIM:613902 ZNF503 skos:exactMatch ncbigene:84858 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:ZNF503 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch UMLS:C1428140 semapv:UnspecifiedMatching OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:ZNF540 semapv:UnspecifiedMatching OMIM:613903 ZNF540 skos:exactMatch ncbigene:163255 semapv:UnspecifiedMatching -OMIM:613904 ZNF569 skos:exactMatch ncbigene:148266 semapv:UnspecifiedMatching OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:ZNF569 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch ncbigene:148266 semapv:UnspecifiedMatching OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:ZNF606 semapv:UnspecifiedMatching OMIM:613905 ZNF606 skos:exactMatch ncbigene:80095 semapv:UnspecifiedMatching OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:ZNF641 semapv:UnspecifiedMatching OMIM:613906 ZNF641 skos:exactMatch ncbigene:121274 semapv:UnspecifiedMatching -OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:ZNF652 semapv:UnspecifiedMatching OMIM:613907 ZNF652 skos:exactMatch ncbigene:22834 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:ZNF652 semapv:UnspecifiedMatching OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:ZNF480 semapv:UnspecifiedMatching OMIM:613910 ZNF480 skos:exactMatch ncbigene:147657 semapv:UnspecifiedMatching -OMIM:613911 ZNF496 skos:exactMatch ncbigene:84838 semapv:UnspecifiedMatching OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:ZNF496 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch ncbigene:84838 semapv:UnspecifiedMatching OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:ZNF746 semapv:UnspecifiedMatching OMIM:613914 ZNF746 skos:exactMatch ncbigene:155061 semapv:UnspecifiedMatching OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:ZBTB42 semapv:UnspecifiedMatching OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch ncbigene:100128927 semapv:UnspecifiedMatching -OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:MUC22 semapv:UnspecifiedMatching OMIM:613917 MUC22 skos:exactMatch ncbigene:100507679 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:MUC22 semapv:UnspecifiedMatching OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:HCG22 semapv:UnspecifiedMatching OMIM:613918 HCG22 skos:exactMatch ncbigene:285834 semapv:UnspecifiedMatching -OMIM:613919 KIF6 skos:exactMatch ncbigene:221458 semapv:UnspecifiedMatching OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:KIF6 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch ncbigene:221458 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch UMLS:C2240258 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch hgnc.symbol:COA5 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch ncbigene:493753 semapv:UnspecifiedMatching OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:LIPJ semapv:UnspecifiedMatching OMIM:613921 LIPJ skos:exactMatch ncbigene:142910 semapv:UnspecifiedMatching -OMIM:613922 LIPK skos:exactMatch hgnc.symbol:LIPK semapv:UnspecifiedMatching OMIM:613922 LIPK skos:exactMatch ncbigene:643414 semapv:UnspecifiedMatching -OMIM:613923 LIPM skos:exactMatch ncbigene:340654 semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch hgnc.symbol:LIPK semapv:UnspecifiedMatching OMIM:613923 LIPM skos:exactMatch hgnc.symbol:LIPM semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch ncbigene:340654 semapv:UnspecifiedMatching OMIM:613924 LIPN skos:exactMatch hgnc.symbol:LIPN semapv:UnspecifiedMatching OMIM:613924 LIPN skos:exactMatch ncbigene:643418 semapv:UnspecifiedMatching OMIM:613927 C2 skos:exactMatch hgnc.symbol:C2 semapv:UnspecifiedMatching OMIM:613927 C2 skos:exactMatch ncbigene:717 semapv:UnspecifiedMatching OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:MUCL3 semapv:UnspecifiedMatching OMIM:613928 MUCL3 skos:exactMatch ncbigene:135656 semapv:UnspecifiedMatching -OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching OMIM:613929 SPINK4 skos:exactMatch ncbigene:27290 semapv:UnspecifiedMatching -OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:TOE1 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:TNNI3K semapv:UnspecifiedMatching OMIM:613932 TNNI3K skos:exactMatch ncbigene:51086 semapv:UnspecifiedMatching OMIM:613934 TMEM25 skos:exactMatch UMLS:C1539994 semapv:UnspecifiedMatching @@ -34287,29 +34291,29 @@ OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:TMEM74 semapv:UnspecifiedMatching OMIM:613935 TMEM74 skos:exactMatch ncbigene:157753 semapv:UnspecifiedMatching OMIM:613936 TMEM102 skos:exactMatch ncbigene:284114 semapv:UnspecifiedMatching OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:TMEM102 semapv:UnspecifiedMatching -OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:TMEM184C semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:SPATA20 semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch ncbigene:64847 semapv:UnspecifiedMatching -OMIM:613940 SPATA5 skos:exactMatch hgnc.symbol:SPATA5 semapv:UnspecifiedMatching +OMIM:613940 SPATA5 skos:exactMatch hgnc.symbol:AFG2A semapv:UnspecifiedMatching OMIM:613940 SPATA5 skos:exactMatch ncbigene:166378 semapv:UnspecifiedMatching -OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:SPINT3 semapv:UnspecifiedMatching OMIM:613941 SPINT3 skos:exactMatch ncbigene:10816 semapv:UnspecifiedMatching -OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:SPINT3 semapv:UnspecifiedMatching OMIM:613942 SUN5 skos:exactMatch ncbigene:140732 semapv:UnspecifiedMatching -OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:DNAJC5B semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:DNAJC5G semapv:UnspecifiedMatching OMIM:613946 DNAJC5G skos:exactMatch ncbigene:285126 semapv:UnspecifiedMatching OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:SPATA6 semapv:UnspecifiedMatching OMIM:613947 SPATA6 skos:exactMatch ncbigene:54558 semapv:UnspecifiedMatching OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:SPATA8 semapv:UnspecifiedMatching OMIM:613948 SPATA8 skos:exactMatch ncbigene:145946 semapv:UnspecifiedMatching -OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:TENT5C semapv:UnspecifiedMatching OMIM:613952 TENT5C skos:exactMatch ncbigene:54855 semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:TENT5C semapv:UnspecifiedMatching OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:TAS2R19 semapv:UnspecifiedMatching @@ -34326,8 +34330,8 @@ OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:TAS2R42 semapv:UnspecifiedMatchi OMIM:613966 TAS2R42 skos:exactMatch ncbigene:353164 semapv:UnspecifiedMatching OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:TAS2R45 semapv:UnspecifiedMatching OMIM:613967 TAS2R45 skos:exactMatch ncbigene:259291 semapv:UnspecifiedMatching -OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:TAS2R60 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching OMIM:613973 CGAS skos:exactMatch UMLS:C3147783 semapv:UnspecifiedMatching @@ -34349,29 +34353,29 @@ OMIM:613984 FANCD2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:FANCD2 semapv:UnspecifiedMatching OMIM:613984 FANCD2 skos:exactMatch ncbigene:2177 semapv:UnspecifiedMatching OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:CDC42BPG semapv:UnspecifiedMatching OMIM:613991 CDC42BPG skos:exactMatch ncbigene:55561 semapv:UnspecifiedMatching OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:PPP2R2D semapv:UnspecifiedMatching OMIM:613992 PPP2R2D skos:exactMatch ncbigene:55844 semapv:UnspecifiedMatching OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:MYL7 semapv:UnspecifiedMatching OMIM:613993 MYL7 skos:exactMatch ncbigene:58498 semapv:UnspecifiedMatching -OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:NBPF4 semapv:UnspecifiedMatching OMIM:613994 NBPF4 skos:exactMatch ncbigene:148545 semapv:UnspecifiedMatching -OMIM:613995 NBPF5 skos:exactMatch ncbigene:100507044 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:NBPF4 semapv:UnspecifiedMatching OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:NBPF5P semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch ncbigene:100507044 semapv:UnspecifiedMatching OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:NBPF6 semapv:UnspecifiedMatching OMIM:613996 NBPF6 skos:exactMatch ncbigene:653149 semapv:UnspecifiedMatching OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:NBPF7P semapv:UnspecifiedMatching OMIM:613997 NBPF7 skos:exactMatch ncbigene:343505 semapv:UnspecifiedMatching -OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:NBPF8 semapv:UnspecifiedMatching OMIM:613998 NBPF8 skos:exactMatch ncbigene:728841 semapv:UnspecifiedMatching -OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:NBPF9 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:NBPF8 semapv:UnspecifiedMatching OMIM:613999 NBPF9 skos:exactMatch ncbigene:400818 semapv:UnspecifiedMatching -OMIM:614000 NBPF10 skos:exactMatch ncbigene:100132406 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:NBPF9 semapv:UnspecifiedMatching OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:NBPF10 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch ncbigene:100132406 semapv:UnspecifiedMatching OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:NBPF11 semapv:UnspecifiedMatching OMIM:614001 NBPF11 skos:exactMatch ncbigene:200030 semapv:UnspecifiedMatching OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:NBPF14 semapv:UnspecifiedMatching @@ -34380,8 +34384,8 @@ OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:NBPF19 semapv:UnspecifiedMatching OMIM:614006 NBPF19 skos:exactMatch ncbigene:101060226 semapv:UnspecifiedMatching OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:NBPF20 semapv:UnspecifiedMatching OMIM:614007 NBPF20 skos:exactMatch ncbigene:100288142 semapv:UnspecifiedMatching -OMIM:614010 IMPAD1 skos:exactMatch ncbigene:54928 semapv:UnspecifiedMatching OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:BPNT2 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch ncbigene:54928 semapv:UnspecifiedMatching OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:ERVK-4 semapv:UnspecifiedMatching OMIM:614011 ERVK-4 skos:exactMatch ncbigene:60359 semapv:UnspecifiedMatching OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:ERVK-5 semapv:UnspecifiedMatching @@ -34412,141 +34416,141 @@ OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:SPDYC semapv:UnspecifiedMatching OMIM:614030 SPDYC skos:exactMatch ncbigene:387778 semapv:UnspecifiedMatching OMIM:614031 RANBP10 skos:exactMatch ncbigene:57610 semapv:UnspecifiedMatching OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:RANBP10 semapv:UnspecifiedMatching -OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:TOX4 semapv:UnspecifiedMatching OMIM:614032 TOX4 skos:exactMatch ncbigene:9878 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:TOX4 semapv:UnspecifiedMatching OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:ZNF467 semapv:UnspecifiedMatching OMIM:614040 ZNF467 skos:exactMatch ncbigene:168544 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C4017354 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch ncbigene:5925 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch hgnc.symbol:RB1 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C4017355 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C4017354 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch ncbigene:5925 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C0694889 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:LRRFIP2 semapv:UnspecifiedMatching OMIM:614043 LRRFIP2 skos:exactMatch ncbigene:9209 semapv:UnspecifiedMatching OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:NIBAN2 semapv:UnspecifiedMatching OMIM:614045 FAM129B skos:exactMatch ncbigene:64855 semapv:UnspecifiedMatching -OMIM:614046 ARGLU1 skos:exactMatch ncbigene:55082 semapv:UnspecifiedMatching OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:ARGLU1 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch ncbigene:55082 semapv:UnspecifiedMatching OMIM:614047 MTHFD2L skos:exactMatch ncbigene:441024 semapv:UnspecifiedMatching OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:MTHFD2L semapv:UnspecifiedMatching -OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:ELAPOR2 semapv:UnspecifiedMatching OMIM:614048 ELAPOR2 skos:exactMatch ncbigene:222223 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:ELAPOR2 semapv:UnspecifiedMatching OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch UMLS:C1825155 semapv:UnspecifiedMatching OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:RIMKLB semapv:UnspecifiedMatching OMIM:614054 RIMKLB skos:exactMatch ncbigene:57494 semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch UMLS:C1825155 semapv:UnspecifiedMatching OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:PPP1R26 semapv:UnspecifiedMatching OMIM:614056 PPP1R26 skos:exactMatch ncbigene:9858 semapv:UnspecifiedMatching -OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:MIR409 semapv:UnspecifiedMatching OMIM:614057 MIR409 skos:exactMatch ncbigene:574413 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:MIR409 semapv:UnspecifiedMatching OMIM:614058 KHK skos:exactMatch hgnc.symbol:KHK semapv:UnspecifiedMatching OMIM:614058 KHK skos:exactMatch ncbigene:3795 semapv:UnspecifiedMatching OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:MIR338 semapv:UnspecifiedMatching OMIM:614059 MIR338 skos:exactMatch ncbigene:442906 semapv:UnspecifiedMatching -OMIM:614060 HOTTIP skos:exactMatch ncbigene:100316868 semapv:UnspecifiedMatching OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:HOTTIP semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch ncbigene:100316868 semapv:UnspecifiedMatching OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:OLFM4 semapv:UnspecifiedMatching OMIM:614061 OLFM4 skos:exactMatch ncbigene:10562 semapv:UnspecifiedMatching -OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:CDC42BPB semapv:UnspecifiedMatching OMIM:614062 CDC42BPB skos:exactMatch ncbigene:9578 semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:CDC42BPB semapv:UnspecifiedMatching OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:ZBTB24 semapv:UnspecifiedMatching OMIM:614064 ZBTB24 skos:exactMatch ncbigene:9841 semapv:UnspecifiedMatching -OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch UMLS:C3279738 semapv:UnspecifiedMatching -OMIM:614068 IFT43 skos:exactMatch ncbigene:112752 semapv:UnspecifiedMatching +OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:IFT43 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch ncbigene:112752 semapv:UnspecifiedMatching OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:MYZAP semapv:UnspecifiedMatching OMIM:614071 MYZAP skos:exactMatch ncbigene:100820829 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch UMLS:C1538106 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:WEE2 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch ncbigene:494551 semapv:UnspecifiedMatching -OMIM:614085 RHNO1 skos:exactMatch ncbigene:83695 semapv:UnspecifiedMatching OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:RHNO1 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch ncbigene:83695 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch ncbigene:345643 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:MCIDAS semapv:UnspecifiedMatching OMIM:614086 MCIDAS skos:exactMatch UMLS:C3463911 semapv:UnspecifiedMatching OMIM:614086 MCIDAS skos:exactMatch UMLS:C5231464 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:MCIDAS semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch ncbigene:345643 semapv:UnspecifiedMatching OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:ICAM4 semapv:UnspecifiedMatching OMIM:614088 ICAM4 skos:exactMatch ncbigene:3386 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C3279792 semapv:UnspecifiedMatching OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:RILPL1 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching OMIM:614092 RILPL1 skos:exactMatch ncbigene:353116 semapv:UnspecifiedMatching -OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:RILPL2 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:RILPL1 semapv:UnspecifiedMatching OMIM:614093 RILPL2 skos:exactMatch ncbigene:196383 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:RILPL2 semapv:UnspecifiedMatching OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:MARVELD3 semapv:UnspecifiedMatching OMIM:614094 MARVELD3 skos:exactMatch ncbigene:91862 semapv:UnspecifiedMatching -OMIM:614095 PCK2 skos:exactMatch ncbigene:5106 semapv:UnspecifiedMatching OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:PCK2 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch ncbigene:5106 semapv:UnspecifiedMatching OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching OMIM:614106 MLIP skos:exactMatch hgnc.symbol:MLIP semapv:UnspecifiedMatching OMIM:614106 MLIP skos:exactMatch ncbigene:90523 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch UMLS:C2681636 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:KPNA7 semapv:UnspecifiedMatching OMIM:614107 KPNA7 skos:exactMatch ncbigene:402569 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:KPNA7 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch UMLS:C2681636 semapv:UnspecifiedMatching OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:BPIFB2 semapv:UnspecifiedMatching OMIM:614108 BPIFB2 skos:exactMatch ncbigene:80341 semapv:UnspecifiedMatching OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:BPIFC semapv:UnspecifiedMatching OMIM:614109 BPIFC skos:exactMatch ncbigene:254240 semapv:UnspecifiedMatching OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:BPIFB6 semapv:UnspecifiedMatching OMIM:614110 BPIFB6 skos:exactMatch ncbigene:128859 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching -OMIM:614112 MIR320A skos:exactMatch ncbigene:407037 semapv:UnspecifiedMatching OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:MIR320A semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch ncbigene:407037 semapv:UnspecifiedMatching OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch UMLS:C3279843 semapv:UnspecifiedMatching OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:EXOC3L1 semapv:UnspecifiedMatching OMIM:614117 EXOC3L1 skos:exactMatch ncbigene:283849 semapv:UnspecifiedMatching -OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:TSHZ2 semapv:UnspecifiedMatching OMIM:614118 TSHZ2 skos:exactMatch ncbigene:128553 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:TSHZ2 semapv:UnspecifiedMatching OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:TSHZ3 semapv:UnspecifiedMatching OMIM:614119 TSHZ3 skos:exactMatch ncbigene:57616 semapv:UnspecifiedMatching -OMIM:614121 TENT2 skos:exactMatch ncbigene:167153 semapv:UnspecifiedMatching OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:TENT2 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch ncbigene:167153 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch ncbigene:54499 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch UMLS:C1823293 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:TMCO1 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch ncbigene:54499 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch UMLS:C2829540 semapv:UnspecifiedMatching OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:GPCPD1 semapv:UnspecifiedMatching OMIM:614124 GPCPD1 skos:exactMatch ncbigene:56261 semapv:UnspecifiedMatching -OMIM:614125 DPPA4 skos:exactMatch ncbigene:55211 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch UMLS:C2829540 semapv:UnspecifiedMatching OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:DPPA4 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch ncbigene:55211 semapv:UnspecifiedMatching OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:MTARC1 semapv:UnspecifiedMatching OMIM:614126 MTARC1 skos:exactMatch ncbigene:64757 semapv:UnspecifiedMatching OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:MTARC2 semapv:UnspecifiedMatching OMIM:614127 MTARC2 skos:exactMatch ncbigene:54996 semapv:UnspecifiedMatching OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:ADAD1 semapv:UnspecifiedMatching OMIM:614130 ADAD1 skos:exactMatch ncbigene:132612 semapv:UnspecifiedMatching -OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:HEPACAM2 semapv:UnspecifiedMatching OMIM:614133 HEPACAM2 skos:exactMatch ncbigene:253012 semapv:UnspecifiedMatching -OMIM:614136 TRAPPC8 skos:exactMatch ncbigene:22878 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:HEPACAM2 semapv:UnspecifiedMatching OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:TRAPPC8 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch ncbigene:22878 semapv:UnspecifiedMatching OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:TRAPPC3L semapv:UnspecifiedMatching OMIM:614137 TRAPPC3L skos:exactMatch ncbigene:100128327 semapv:UnspecifiedMatching OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:TRAPPC11 semapv:UnspecifiedMatching @@ -34555,43 +34559,43 @@ OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:TRAPPC12 semapv:UnspecifiedMatc OMIM:614139 TRAPPC12 skos:exactMatch ncbigene:51112 semapv:UnspecifiedMatching OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:SPECC1L semapv:UnspecifiedMatching OMIM:614140 SPECC1L skos:exactMatch ncbigene:23384 semapv:UnspecifiedMatching -OMIM:614141 TRIM2 skos:exactMatch ncbigene:23321 semapv:UnspecifiedMatching OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:TRIM2 semapv:UnspecifiedMatching -OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:CUEDC2 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch ncbigene:23321 semapv:UnspecifiedMatching OMIM:614142 CUEDC2 skos:exactMatch ncbigene:79004 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:CUEDC2 semapv:UnspecifiedMatching OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:IGFLR1 semapv:UnspecifiedMatching OMIM:614143 IGFLR1 skos:exactMatch ncbigene:79713 semapv:UnspecifiedMatching OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:B9D1 semapv:UnspecifiedMatching OMIM:614144 B9D1 skos:exactMatch ncbigene:27077 semapv:UnspecifiedMatching OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:CCDC8 semapv:UnspecifiedMatching OMIM:614145 CCDC8 skos:exactMatch ncbigene:83987 semapv:UnspecifiedMatching -OMIM:614146 DNAAF9 skos:exactMatch ncbigene:25943 semapv:UnspecifiedMatching OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:DNAAF9 semapv:UnspecifiedMatching -OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:C1QTNF8 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch ncbigene:25943 semapv:UnspecifiedMatching OMIM:614147 C1QTNF8 skos:exactMatch ncbigene:390664 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:C1QTNF8 semapv:UnspecifiedMatching OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:C1QTNF9B semapv:UnspecifiedMatching OMIM:614148 C1QTNF9B skos:exactMatch ncbigene:387911 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C2828534 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:PKDCC semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch ncbigene:91461 semapv:UnspecifiedMatching -OMIM:614151 RFWD3 skos:exactMatch ncbigene:55159 semapv:UnspecifiedMatching OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:RFWD3 semapv:UnspecifiedMatching -OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:NOP56 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch ncbigene:55159 semapv:UnspecifiedMatching OMIM:614154 NOP56 skos:exactMatch ncbigene:10528 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:NOP56 semapv:UnspecifiedMatching OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:MIR1292 semapv:UnspecifiedMatching OMIM:614155 MIR1292 skos:exactMatch ncbigene:100302138 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:ZNF644 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch ncbigene:84146 semapv:UnspecifiedMatching -OMIM:614161 PRDM5 skos:exactMatch ncbigene:11107 semapv:UnspecifiedMatching OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:PRDM5 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch ncbigene:11107 semapv:UnspecifiedMatching OMIM:614162 immunodeficiency 31c skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching OMIM:614162 immunodeficiency 31c skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching OMIM:614167 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch ncbigene:5105 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:PCK1 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch UMLS:C1418371 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:PCK1 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch ncbigene:5105 semapv:UnspecifiedMatching OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:NBEAL2 semapv:UnspecifiedMatching OMIM:614169 NBEAL2 skos:exactMatch ncbigene:23218 semapv:UnspecifiedMatching OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:MEIG1 semapv:UnspecifiedMatching @@ -34599,78 +34603,78 @@ OMIM:614174 MEIG1 skos:exactMatch UMLS:C1537684 semapv:UnspecifiedMatching OMIM:614174 MEIG1 skos:exactMatch ncbigene:644890 semapv:UnspecifiedMatching OMIM:614176 ZFYVE28 skos:exactMatch ncbigene:57732 semapv:UnspecifiedMatching OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:ZFYVE28 semapv:UnspecifiedMatching -OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:CRACR2B semapv:UnspecifiedMatching OMIM:614177 EFCAB4A skos:exactMatch ncbigene:283229 semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:CRACR2B semapv:UnspecifiedMatching OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:CRACR2A semapv:UnspecifiedMatching OMIM:614178 CRACR2A skos:exactMatch ncbigene:84766 semapv:UnspecifiedMatching OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:ISLR2 semapv:UnspecifiedMatching OMIM:614179 ISLR2 skos:exactMatch ncbigene:57611 semapv:UnspecifiedMatching OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:HEG1 semapv:UnspecifiedMatching OMIM:614182 HEG1 skos:exactMatch ncbigene:57493 semapv:UnspecifiedMatching -OMIM:614183 DIS3L skos:exactMatch ncbigene:115752 semapv:UnspecifiedMatching OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:DIS3L semapv:UnspecifiedMatching -OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:DIS3L2 semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch ncbigene:115752 semapv:UnspecifiedMatching OMIM:614184 DIS3L2 skos:exactMatch ncbigene:129563 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:DIS3L2 semapv:UnspecifiedMatching OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:GOLGA7B semapv:UnspecifiedMatching OMIM:614189 GOLGA7B skos:exactMatch ncbigene:401647 semapv:UnspecifiedMatching OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:DEPDC5 semapv:UnspecifiedMatching OMIM:614191 DEPDC5 skos:exactMatch ncbigene:9681 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:DOCK6 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch ncbigene:57572 semapv:UnspecifiedMatching -OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching OMIM:614197 MCU skos:exactMatch hgnc.symbol:MCU semapv:UnspecifiedMatching -OMIM:614202 rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching OMIM:614202 rafiq syndrome skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:614202 rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C0392439 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching -OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:CHTOP semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching OMIM:614214 KLHL6 skos:exactMatch ncbigene:89857 semapv:UnspecifiedMatching OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:KLHL6 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch UMLS:C1428365 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch ncbigene:51008 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:ASCC1 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch UMLS:C3277074 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch UMLS:C1428365 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:ASCC1 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch ncbigene:51008 semapv:UnspecifiedMatching OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:ASCC2 semapv:UnspecifiedMatching OMIM:614216 ASCC2 skos:exactMatch ncbigene:84164 semapv:UnspecifiedMatching -OMIM:614217 ASCC3 skos:exactMatch ncbigene:10973 semapv:UnspecifiedMatching OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:ASCC3 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch ncbigene:10973 semapv:UnspecifiedMatching OMIM:614218 WDR81 skos:exactMatch ncbigene:124997 semapv:UnspecifiedMatching OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:WDR81 semapv:UnspecifiedMatching -OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching +OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:HSD11B2 semapv:UnspecifiedMatching OMIM:614232 HSD11B2 skos:exactMatch ncbigene:3291 semapv:UnspecifiedMatching OMIM:614234 PIFO skos:exactMatch UMLS:C1823708 semapv:UnspecifiedMatching OMIM:614234 PIFO skos:exactMatch hgnc.symbol:PIFO semapv:UnspecifiedMatching OMIM:614234 PIFO skos:exactMatch ncbigene:128344 semapv:UnspecifiedMatching -OMIM:614235 PDZD8 skos:exactMatch ncbigene:118987 semapv:UnspecifiedMatching OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:PDZD8 semapv:UnspecifiedMatching -OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch ncbigene:118987 semapv:UnspecifiedMatching OMIM:614236 SLC38A7 skos:exactMatch ncbigene:55238 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:PHETA1 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch ncbigene:144717 semapv:UnspecifiedMatching OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:PHETA2 semapv:UnspecifiedMatching OMIM:614240 PHETA2 skos:exactMatch ncbigene:150368 semapv:UnspecifiedMatching OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:LCLAT1 semapv:UnspecifiedMatching OMIM:614241 LCLAT1 skos:exactMatch ncbigene:253558 semapv:UnspecifiedMatching -OMIM:614242 SLC16A9 skos:exactMatch ncbigene:220963 semapv:UnspecifiedMatching OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:SLC16A9 semapv:UnspecifiedMatching -OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:OPLAH semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch ncbigene:220963 semapv:UnspecifiedMatching OMIM:614243 OPLAH skos:exactMatch ncbigene:26873 semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:OPLAH semapv:UnspecifiedMatching OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:PDXDC1 semapv:UnspecifiedMatching OMIM:614244 PDXDC1 skos:exactMatch ncbigene:23042 semapv:UnspecifiedMatching OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:ACSF3 semapv:UnspecifiedMatching OMIM:614245 ACSF3 skos:exactMatch ncbigene:197322 semapv:UnspecifiedMatching -OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:NAA60 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:614255 nescav syndrome skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching @@ -34699,8 +34703,8 @@ OMIM:614270 CFAP65 skos:exactMatch UMLS:C1824636 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:CFAP65 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch ncbigene:255101 semapv:UnspecifiedMatching -OMIM:614271 CCDC137 skos:exactMatch ncbigene:339230 semapv:UnspecifiedMatching OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:CCDC137 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch ncbigene:339230 semapv:UnspecifiedMatching OMIM:614272 FASTKD5 skos:exactMatch ncbigene:60493 semapv:UnspecifiedMatching OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:FASTKD5 semapv:UnspecifiedMatching OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:OR4C46 semapv:UnspecifiedMatching @@ -34721,8 +34725,8 @@ OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:SDF4 semapv:UnspecifiedMatching OMIM:614282 SDF4 skos:exactMatch ncbigene:51150 semapv:UnspecifiedMatching OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:GLCCI1 semapv:UnspecifiedMatching OMIM:614283 GLCCI1 skos:exactMatch ncbigene:113263 semapv:UnspecifiedMatching -OMIM:614285 C1QTNF9 skos:exactMatch ncbigene:338872 semapv:UnspecifiedMatching OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:C1QTNF9 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch ncbigene:338872 semapv:UnspecifiedMatching OMIM:614286 myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching OMIM:614286 myelodysplastic syndrome skos:exactMatch UMLS:C3463824 semapv:UnspecifiedMatching OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:OFCC1 semapv:UnspecifiedMatching @@ -34731,18 +34735,18 @@ OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:ACAD11 semapv:UnspecifiedMatching OMIM:614288 ACAD11 skos:exactMatch ncbigene:84129 semapv:UnspecifiedMatching OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:SEL1L2 semapv:UnspecifiedMatching OMIM:614289 SEL1L2 skos:exactMatch ncbigene:80343 semapv:UnspecifiedMatching -OMIM:614295 BICC1 skos:exactMatch ncbigene:80114 semapv:UnspecifiedMatching OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:BICC1 semapv:UnspecifiedMatching -OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:C19orf12 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch ncbigene:80114 semapv:UnspecifiedMatching OMIM:614297 C19ORF12 skos:exactMatch ncbigene:83636 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:C19orf12 semapv:UnspecifiedMatching OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:ATXN1L semapv:UnspecifiedMatching OMIM:614301 ATXN1L skos:exactMatch ncbigene:342371 semapv:UnspecifiedMatching OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:MIR137 semapv:UnspecifiedMatching OMIM:614304 MIR137 skos:exactMatch ncbigene:406928 semapv:UnspecifiedMatching -OMIM:614308 FTCDNL1 skos:exactMatch ncbigene:348751 semapv:UnspecifiedMatching OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:FTCDNL1 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch ncbigene:348751 semapv:UnspecifiedMatching OMIM:614309 TRMT44 skos:exactMatch ncbigene:152992 semapv:UnspecifiedMatching OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:TRMT44 semapv:UnspecifiedMatching OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:CEP70 semapv:UnspecifiedMatching @@ -34761,8 +34765,8 @@ OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:VTI1A semapv:UnspecifiedMatching OMIM:614316 VTI1A skos:exactMatch ncbigene:143187 semapv:UnspecifiedMatching OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching -OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C1304501 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch ncbigene:165257 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:C1QL2 semapv:UnspecifiedMatching @@ -34776,14 +34780,14 @@ OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:ZNF638 semapv:UnspecifiedMatching OMIM:614349 ZNF638 skos:exactMatch ncbigene:27332 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch ncbigene:9688 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:NUP93 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch UMLS:C1428756 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch UMLS:C1425685 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:NUP205 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch ncbigene:23165 semapv:UnspecifiedMatching -OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:HAS2-AS1 semapv:UnspecifiedMatching OMIM:614353 HAS2AS1 skos:exactMatch ncbigene:594842 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:HAS2-AS1 semapv:UnspecifiedMatching OMIM:614354 pro2268 gene skos:exactMatch ncbigene:55390 semapv:UnspecifiedMatching OMIM:614355 ACSS1 skos:exactMatch ncbigene:84532 semapv:UnspecifiedMatching OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:ACSS1 semapv:UnspecifiedMatching @@ -34793,8 +34797,8 @@ OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:ACSM1 semapv:UnspecifiedMatching OMIM:614357 ACSM1 skos:exactMatch ncbigene:116285 semapv:UnspecifiedMatching OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:ACSM2A semapv:UnspecifiedMatching OMIM:614358 ACSM2A skos:exactMatch ncbigene:123876 semapv:UnspecifiedMatching -OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:ACSM2B semapv:UnspecifiedMatching OMIM:614359 ACSM2B skos:exactMatch ncbigene:348158 semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:ACSM2B semapv:UnspecifiedMatching OMIM:614360 ACSM4 skos:exactMatch ncbigene:341392 semapv:UnspecifiedMatching OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:ACSM4 semapv:UnspecifiedMatching OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:ACSM5 semapv:UnspecifiedMatching @@ -34825,8 +34829,8 @@ OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:TDRD3 semapv:UnspecifiedMatching OMIM:614392 TDRD3 skos:exactMatch ncbigene:81550 semapv:UnspecifiedMatching OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:OARD1 semapv:UnspecifiedMatching OMIM:614393 OARD1 skos:exactMatch ncbigene:221443 semapv:UnspecifiedMatching -OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:IFT20 semapv:UnspecifiedMatching OMIM:614394 IFT20 skos:exactMatch ncbigene:90410 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:IFT20 semapv:UnspecifiedMatching OMIM:614396 GPATCH8 skos:exactMatch ncbigene:23131 semapv:UnspecifiedMatching OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:GPATCH8 semapv:UnspecifiedMatching OMIM:614397 MFSD2A skos:exactMatch UMLS:C1825980 semapv:UnspecifiedMatching @@ -34835,8 +34839,8 @@ OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:MFSD2A semapv:UnspecifiedMatching OMIM:614397 MFSD2A skos:exactMatch ncbigene:84879 semapv:UnspecifiedMatching OMIM:614398 JCAD skos:exactMatch hgnc.symbol:JCAD semapv:UnspecifiedMatching OMIM:614398 JCAD skos:exactMatch ncbigene:57608 semapv:UnspecifiedMatching -OMIM:614403 RHBDF1 skos:exactMatch ncbigene:64285 semapv:UnspecifiedMatching OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:RHBDF1 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch ncbigene:64285 semapv:UnspecifiedMatching OMIM:614404 RHBDF2 skos:exactMatch ncbigene:79651 semapv:UnspecifiedMatching OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:RHBDF2 semapv:UnspecifiedMatching OMIM:614405 DHX33 skos:exactMatch UMLS:C1424504 semapv:UnspecifiedMatching @@ -34848,48 +34852,48 @@ OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:AFAP1L1 semapv:UnspecifiedMatchi OMIM:614410 AFAP1L1 skos:exactMatch ncbigene:134265 semapv:UnspecifiedMatching OMIM:614412 TOPAZ1 skos:exactMatch ncbigene:375337 semapv:UnspecifiedMatching OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:TOPAZ1 semapv:UnspecifiedMatching -OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:ACY3 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:TMEM237 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch ncbigene:65062 semapv:UnspecifiedMatching OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:TTI1 semapv:UnspecifiedMatching OMIM:614425 TTI1 skos:exactMatch ncbigene:9675 semapv:UnspecifiedMatching -OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:TTI2 semapv:UnspecifiedMatching OMIM:614426 TTI2 skos:exactMatch ncbigene:80185 semapv:UnspecifiedMatching -OMIM:614427 TSHZ1 skos:exactMatch ncbigene:10194 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:TTI2 semapv:UnspecifiedMatching OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:TSHZ1 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch ncbigene:10194 semapv:UnspecifiedMatching OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:TFAP2E semapv:UnspecifiedMatching OMIM:614428 TFAP2E skos:exactMatch ncbigene:339488 semapv:UnspecifiedMatching OMIM:614439 ARL14 skos:exactMatch UMLS:C1824214 semapv:UnspecifiedMatching OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:ARL14 semapv:UnspecifiedMatching OMIM:614439 ARL14 skos:exactMatch ncbigene:80117 semapv:UnspecifiedMatching -OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:PSD3 semapv:UnspecifiedMatching OMIM:614440 PSD3 skos:exactMatch ncbigene:23362 semapv:UnspecifiedMatching -OMIM:614442 PSD4 skos:exactMatch ncbigene:23550 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:PSD3 semapv:UnspecifiedMatching OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:PSD4 semapv:UnspecifiedMatching -OMIM:614443 EBNA1BP2 skos:exactMatch ncbigene:10969 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch ncbigene:23550 semapv:UnspecifiedMatching OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:EBNA1BP2 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch ncbigene:10969 semapv:UnspecifiedMatching OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:RALGPS1 semapv:UnspecifiedMatching OMIM:614444 RALGPS1 skos:exactMatch ncbigene:9649 semapv:UnspecifiedMatching OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:DPPA2 semapv:UnspecifiedMatching OMIM:614445 DPPA2 skos:exactMatch ncbigene:151871 semapv:UnspecifiedMatching -OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:ATP9B semapv:UnspecifiedMatching OMIM:614446 ATP9B skos:exactMatch ncbigene:374868 semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:ATP9B semapv:UnspecifiedMatching OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:G0S2 semapv:UnspecifiedMatching OMIM:614447 G0S2 skos:exactMatch ncbigene:50486 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch ncbigene:647309 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch hgnc.symbol:GMNC semapv:UnspecifiedMatching OMIM:614448 GMNC skos:exactMatch UMLS:C3280816 semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch hgnc.symbol:GMNC semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch ncbigene:647309 semapv:UnspecifiedMatching OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:PCDH20 semapv:UnspecifiedMatching OMIM:614449 PCDH20 skos:exactMatch ncbigene:64881 semapv:UnspecifiedMatching -OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:ELOVL7 semapv:UnspecifiedMatching OMIM:614451 ELOVL7 skos:exactMatch ncbigene:79993 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch UMLS:C1428532 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:ELOVL7 semapv:UnspecifiedMatching OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:ATAD1 semapv:UnspecifiedMatching OMIM:614452 ATAD1 skos:exactMatch ncbigene:84896 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch UMLS:C1428532 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching OMIM:614453 LRRC7 skos:exactMatch ncbigene:57554 semapv:UnspecifiedMatching OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:LRRC7 semapv:UnspecifiedMatching OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:UBE3C semapv:UnspecifiedMatching @@ -34909,8 +34913,8 @@ OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatc OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching OMIM:614471 USP19 skos:exactMatch hgnc.symbol:USP19 semapv:UnspecifiedMatching OMIM:614471 USP19 skos:exactMatch ncbigene:10869 semapv:UnspecifiedMatching -OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:RNF123 semapv:UnspecifiedMatching OMIM:614472 RNF123 skos:exactMatch ncbigene:63891 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:RNF123 semapv:UnspecifiedMatching OMIM:614476 THSD4 skos:exactMatch ncbigene:79875 semapv:UnspecifiedMatching OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:THSD4 semapv:UnspecifiedMatching OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:CFAP418 semapv:UnspecifiedMatching @@ -34930,8 +34934,8 @@ OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:ANAPC13 semapv:UnspecifiedMatchi OMIM:614484 ANAPC13 skos:exactMatch ncbigene:25847 semapv:UnspecifiedMatching OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching -OMIM:614488 MIR1258 skos:exactMatch ncbigene:100302172 semapv:UnspecifiedMatching OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:MIR1258 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch ncbigene:100302172 semapv:UnspecifiedMatching OMIM:614489 MIR616 skos:exactMatch ncbigene:693201 semapv:UnspecifiedMatching OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:MIR616 semapv:UnspecifiedMatching OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching @@ -34942,30 +34946,30 @@ OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:KLHDC8A semapv:UnspecifiedMatchi OMIM:614503 KLHDC8A skos:exactMatch ncbigene:55220 semapv:UnspecifiedMatching OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:FKBP14 semapv:UnspecifiedMatching OMIM:614505 FKBP14 skos:exactMatch ncbigene:55033 semapv:UnspecifiedMatching -OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:BRAT1 semapv:UnspecifiedMatching OMIM:614506 BRAT1 skos:exactMatch ncbigene:221927 semapv:UnspecifiedMatching -OMIM:614509 MIR99A skos:exactMatch ncbigene:407055 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:BRAT1 semapv:UnspecifiedMatching OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:MIR99A semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch ncbigene:407055 semapv:UnspecifiedMatching OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:MIR99B semapv:UnspecifiedMatching OMIM:614510 MIR99B skos:exactMatch ncbigene:407056 semapv:UnspecifiedMatching OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:MDFIC semapv:UnspecifiedMatching OMIM:614511 MDFIC skos:exactMatch ncbigene:29969 semapv:UnspecifiedMatching OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:TOR1AIP1 semapv:UnspecifiedMatching OMIM:614512 TOR1AIP1 skos:exactMatch ncbigene:26092 semapv:UnspecifiedMatching -OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:TOR1AIP2 semapv:UnspecifiedMatching OMIM:614513 TOR1AIP2 skos:exactMatch ncbigene:163590 semapv:UnspecifiedMatching -OMIM:614515 GPR179 skos:exactMatch ncbigene:440435 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:TOR1AIP2 semapv:UnspecifiedMatching OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:GPR179 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch ncbigene:440435 semapv:UnspecifiedMatching OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:DOLPP1 semapv:UnspecifiedMatching OMIM:614516 DOLPP1 skos:exactMatch ncbigene:57171 semapv:UnspecifiedMatching OMIM:614517 ARNTL2 skos:exactMatch hgnc.symbol:BMAL2 semapv:UnspecifiedMatching OMIM:614517 ARNTL2 skos:exactMatch ncbigene:56938 semapv:UnspecifiedMatching OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:GATAD1 semapv:UnspecifiedMatching OMIM:614518 GATAD1 skos:exactMatch ncbigene:57798 semapv:UnspecifiedMatching -OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:KLHL12 semapv:UnspecifiedMatching OMIM:614522 KLHL12 skos:exactMatch ncbigene:59349 semapv:UnspecifiedMatching -OMIM:614523 MIR489 skos:exactMatch ncbigene:574442 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:KLHL12 semapv:UnspecifiedMatching OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:MIR489 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch ncbigene:574442 semapv:UnspecifiedMatching OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:NFATC2IP semapv:UnspecifiedMatching OMIM:614525 NFATC2IP skos:exactMatch ncbigene:84901 semapv:UnspecifiedMatching OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:HIF1A-AS1 semapv:UnspecifiedMatching @@ -34984,112 +34988,112 @@ OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:ANAPC11 semapv:UnspecifiedMatchi OMIM:614534 ANAPC11 skos:exactMatch ncbigene:51529 semapv:UnspecifiedMatching OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:ZSWIM7 semapv:UnspecifiedMatching OMIM:614535 ZSWIM7 skos:exactMatch ncbigene:125150 semapv:UnspecifiedMatching -OMIM:614536 SWSAP1 skos:exactMatch ncbigene:126074 semapv:UnspecifiedMatching OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:SWSAP1 semapv:UnspecifiedMatching -OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:LRMDA semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch ncbigene:126074 semapv:UnspecifiedMatching OMIM:614537 LRMDA skos:exactMatch ncbigene:83938 semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:LRMDA semapv:UnspecifiedMatching OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:MIR570 semapv:UnspecifiedMatching OMIM:614538 MIR570 skos:exactMatch ncbigene:693155 semapv:UnspecifiedMatching OMIM:614539 HELB skos:exactMatch hgnc.symbol:HELB semapv:UnspecifiedMatching OMIM:614539 HELB skos:exactMatch ncbigene:92797 semapv:UnspecifiedMatching OMIM:614542 FAM69A skos:exactMatch hgnc.symbol:DIPK1A semapv:UnspecifiedMatching OMIM:614542 FAM69A skos:exactMatch ncbigene:388650 semapv:UnspecifiedMatching -OMIM:614543 FAM69B skos:exactMatch ncbigene:138311 semapv:UnspecifiedMatching OMIM:614543 FAM69B skos:exactMatch hgnc.symbol:DIPK1B semapv:UnspecifiedMatching -OMIM:614544 FAM69C skos:exactMatch hgnc.symbol:DIPK1C semapv:UnspecifiedMatching +OMIM:614543 FAM69B skos:exactMatch ncbigene:138311 semapv:UnspecifiedMatching OMIM:614544 FAM69C skos:exactMatch ncbigene:125704 semapv:UnspecifiedMatching +OMIM:614544 FAM69C skos:exactMatch hgnc.symbol:DIPK1C semapv:UnspecifiedMatching OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:EMC10 semapv:UnspecifiedMatching OMIM:614545 EMC10 skos:exactMatch ncbigene:284361 semapv:UnspecifiedMatching OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:RAMAC semapv:UnspecifiedMatching OMIM:614547 FAM103A1 skos:exactMatch ncbigene:83640 semapv:UnspecifiedMatching -OMIM:614548 SERINC1 skos:exactMatch ncbigene:57515 semapv:UnspecifiedMatching OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:SERINC1 semapv:UnspecifiedMatching -OMIM:614549 SERINC2 skos:exactMatch ncbigene:347735 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch ncbigene:57515 semapv:UnspecifiedMatching OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:SERINC2 semapv:UnspecifiedMatching -OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:SERINC4 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch ncbigene:347735 semapv:UnspecifiedMatching OMIM:614550 SERINC4 skos:exactMatch ncbigene:619189 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:SERINC4 semapv:UnspecifiedMatching OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:SERINC5 semapv:UnspecifiedMatching OMIM:614551 SERINC5 skos:exactMatch ncbigene:256987 semapv:UnspecifiedMatching OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:XXYLT1 semapv:UnspecifiedMatching OMIM:614552 XXYLT1 skos:exactMatch ncbigene:152002 semapv:UnspecifiedMatching -OMIM:614553 N6AMT1 skos:exactMatch ncbigene:29104 semapv:UnspecifiedMatching OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:N6AMT1 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch ncbigene:29104 semapv:UnspecifiedMatching OMIM:614554 FAM32A skos:exactMatch ncbigene:26017 semapv:UnspecifiedMatching OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:FAM32A semapv:UnspecifiedMatching -OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:FRMD6 semapv:UnspecifiedMatching OMIM:614555 FRMD6 skos:exactMatch ncbigene:122786 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:FRMD6 semapv:UnspecifiedMatching OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:ARID1B semapv:UnspecifiedMatching OMIM:614556 ARID1B skos:exactMatch ncbigene:57492 semapv:UnspecifiedMatching OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch ncbigene:23383 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:MAU2 semapv:UnspecifiedMatching OMIM:614560 MAU2 skos:exactMatch UMLS:C1428798 semapv:UnspecifiedMatching -OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:MAU2 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch ncbigene:23383 semapv:UnspecifiedMatching OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching +OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:DNAAF3 semapv:UnspecifiedMatching OMIM:614566 DNAAF3 skos:exactMatch ncbigene:352909 semapv:UnspecifiedMatching OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:DIAPH3 semapv:UnspecifiedMatching OMIM:614567 DIAPH3 skos:exactMatch ncbigene:81624 semapv:UnspecifiedMatching OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:UNC13C semapv:UnspecifiedMatching OMIM:614568 UNC13C skos:exactMatch ncbigene:440279 semapv:UnspecifiedMatching -OMIM:614570 KIF18B skos:exactMatch ncbigene:146909 semapv:UnspecifiedMatching OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:KIF18B semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch ncbigene:146909 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:CPLANE1 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch ncbigene:65250 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2240273 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:CPLANE1 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch ncbigene:65250 semapv:UnspecifiedMatching OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:ZFP42 semapv:UnspecifiedMatching OMIM:614572 ZFP42 skos:exactMatch ncbigene:132625 semapv:UnspecifiedMatching -OMIM:614573 GPR158 skos:exactMatch ncbigene:57512 semapv:UnspecifiedMatching OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:GPR158 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch ncbigene:57512 semapv:UnspecifiedMatching OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:ROGDI semapv:UnspecifiedMatching OMIM:614574 ROGDI skos:exactMatch ncbigene:79641 semapv:UnspecifiedMatching -OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching +OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:PAQR3 semapv:UnspecifiedMatching OMIM:614577 PAQR3 skos:exactMatch ncbigene:152559 semapv:UnspecifiedMatching -OMIM:614578 PAQR4 skos:exactMatch ncbigene:124222 semapv:UnspecifiedMatching OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:PAQR4 semapv:UnspecifiedMatching -OMIM:614579 PAQR6 skos:exactMatch ncbigene:79957 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch ncbigene:124222 semapv:UnspecifiedMatching OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:PAQR6 semapv:UnspecifiedMatching -OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:PAQR9 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch ncbigene:79957 semapv:UnspecifiedMatching OMIM:614580 PAQR9 skos:exactMatch ncbigene:344838 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:PAQR9 semapv:UnspecifiedMatching OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:MMD2 semapv:UnspecifiedMatching OMIM:614581 MMD2 skos:exactMatch ncbigene:221938 semapv:UnspecifiedMatching OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:P4HTM semapv:UnspecifiedMatching OMIM:614584 P4HTM skos:exactMatch ncbigene:54681 semapv:UnspecifiedMatching OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:FDX2 semapv:UnspecifiedMatching OMIM:614585 FDX2 skos:exactMatch ncbigene:112812 semapv:UnspecifiedMatching -OMIM:614586 ZDHHC5 skos:exactMatch ncbigene:25921 semapv:UnspecifiedMatching OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:ZDHHC5 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch UMLS:C1824730 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch ncbigene:25921 semapv:UnspecifiedMatching OMIM:614587 CHAC1 skos:exactMatch ncbigene:79094 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch UMLS:C1824730 semapv:UnspecifiedMatching OMIM:614589 SKIC3 skos:exactMatch hgnc.symbol:SKIC3 semapv:UnspecifiedMatching OMIM:614589 SKIC3 skos:exactMatch ncbigene:9652 semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:CEACAM16 semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch ncbigene:388551 semapv:UnspecifiedMatching -OMIM:614593 MARF1 skos:exactMatch ncbigene:9665 semapv:UnspecifiedMatching OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:MARF1 semapv:UnspecifiedMatching -OMIM:614596 MIR302A skos:exactMatch ncbigene:407028 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch ncbigene:9665 semapv:UnspecifiedMatching OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:MIR302A semapv:UnspecifiedMatching -OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:MIR302B semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch ncbigene:407028 semapv:UnspecifiedMatching OMIM:614597 MIR302B skos:exactMatch ncbigene:442894 semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:MIR302B semapv:UnspecifiedMatching OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:MIR302C semapv:UnspecifiedMatching OMIM:614598 MIR302C skos:exactMatch ncbigene:442895 semapv:UnspecifiedMatching OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:MIR302D semapv:UnspecifiedMatching OMIM:614599 MIR302D skos:exactMatch ncbigene:442896 semapv:UnspecifiedMatching OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:MIR367 semapv:UnspecifiedMatching OMIM:614600 MIR367 skos:exactMatch ncbigene:442912 semapv:UnspecifiedMatching -OMIM:614601 ZNF326 skos:exactMatch ncbigene:284695 semapv:UnspecifiedMatching OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:ZNF326 semapv:UnspecifiedMatching -OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:DDHD1 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch ncbigene:284695 semapv:UnspecifiedMatching OMIM:614603 DDHD1 skos:exactMatch ncbigene:80821 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:DDHD1 semapv:UnspecifiedMatching OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:ZDHHC7 semapv:UnspecifiedMatching OMIM:614604 ZDHHC7 skos:exactMatch ncbigene:55625 semapv:UnspecifiedMatching OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:ZDHHC21 semapv:UnspecifiedMatching @@ -35098,69 +35102,69 @@ OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:FOCAD semapv:UnspecifiedMatching OMIM:614606 FOCAD skos:exactMatch ncbigene:54914 semapv:UnspecifiedMatching OMIM:614610 KANK2 skos:exactMatch ncbigene:25959 semapv:UnspecifiedMatching OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:KANK2 semapv:UnspecifiedMatching -OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:KANK3 semapv:UnspecifiedMatching OMIM:614611 KANK3 skos:exactMatch ncbigene:256949 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:KANK3 semapv:UnspecifiedMatching OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:KANK4 semapv:UnspecifiedMatching OMIM:614612 KANK4 skos:exactMatch ncbigene:163782 semapv:UnspecifiedMatching OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:IFT140 semapv:UnspecifiedMatching OMIM:614620 IFT140 skos:exactMatch ncbigene:9742 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:MALSU1 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch ncbigene:115416 semapv:UnspecifiedMatching -OMIM:614625 DANCR skos:exactMatch ncbigene:57291 semapv:UnspecifiedMatching OMIM:614625 DANCR skos:exactMatch hgnc.symbol:DANCR semapv:UnspecifiedMatching -OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:SNORA26 semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch ncbigene:57291 semapv:UnspecifiedMatching OMIM:614626 SNORA26 skos:exactMatch ncbigene:677810 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:SNORA26 semapv:UnspecifiedMatching OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:MIR4449 semapv:UnspecifiedMatching OMIM:614627 MIR4449 skos:exactMatch ncbigene:100616436 semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch hgnc.symbol:ADGB semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch ncbigene:79747 semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch ncbigene:729920 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:CRPPA semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch UMLS:C2829592 semapv:UnspecifiedMatching -OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:UVSSA semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:CRPPA semapv:UnspecifiedMatching OMIM:614632 UVSSA skos:exactMatch ncbigene:57654 semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:UVSSA semapv:UnspecifiedMatching OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:VPS54 semapv:UnspecifiedMatching OMIM:614633 VPS54 skos:exactMatch ncbigene:51542 semapv:UnspecifiedMatching OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:CEP126 semapv:UnspecifiedMatching OMIM:614634 CEP126 skos:exactMatch ncbigene:57562 semapv:UnspecifiedMatching -OMIM:614635 LINC00538 skos:exactMatch ncbigene:100861504 semapv:UnspecifiedMatching OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:LINC00538 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch ncbigene:100861504 semapv:UnspecifiedMatching OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:MYO1H semapv:UnspecifiedMatching OMIM:614636 MYO1H skos:exactMatch ncbigene:283446 semapv:UnspecifiedMatching -OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:DESI1 semapv:UnspecifiedMatching OMIM:614637 DESI1 skos:exactMatch ncbigene:27351 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:DESI1 semapv:UnspecifiedMatching OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:DESI2 semapv:UnspecifiedMatching OMIM:614638 DESI2 skos:exactMatch ncbigene:51029 semapv:UnspecifiedMatching OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:ZBTB46 semapv:UnspecifiedMatching OMIM:614639 ZBTB46 skos:exactMatch ncbigene:140685 semapv:UnspecifiedMatching OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:LAMP5 semapv:UnspecifiedMatching OMIM:614641 LAMP5 skos:exactMatch ncbigene:24141 semapv:UnspecifiedMatching -OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:STARD9 semapv:UnspecifiedMatching -OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:COQ6 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch ncbigene:51004 semapv:UnspecifiedMatching OMIM:614648 RALYL skos:exactMatch hgnc.symbol:RALYL semapv:UnspecifiedMatching OMIM:614648 RALYL skos:exactMatch ncbigene:138046 semapv:UnspecifiedMatching OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:RNF170 semapv:UnspecifiedMatching OMIM:614649 RNF170 skos:exactMatch ncbigene:81790 semapv:UnspecifiedMatching -OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch UMLS:C3553349 semapv:UnspecifiedMatching -OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching +OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching OMIM:614656 PALD1 skos:exactMatch ncbigene:27143 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:AMOTL1 semapv:UnspecifiedMatching OMIM:614657 AMOTL1 skos:exactMatch ncbigene:154810 semapv:UnspecifiedMatching OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:AMOTL2 semapv:UnspecifiedMatching OMIM:614658 AMOTL2 skos:exactMatch ncbigene:51421 semapv:UnspecifiedMatching OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:AMER2 semapv:UnspecifiedMatching OMIM:614659 AMER2 skos:exactMatch ncbigene:219287 semapv:UnspecifiedMatching -OMIM:614660 PATL1 skos:exactMatch ncbigene:219988 semapv:UnspecifiedMatching OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:PATL1 semapv:UnspecifiedMatching -OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:PATL2 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch ncbigene:219988 semapv:UnspecifiedMatching OMIM:614661 PATL2 skos:exactMatch ncbigene:197135 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:PATL2 semapv:UnspecifiedMatching OMIM:614663 RALY skos:exactMatch UMLS:C1423833 semapv:UnspecifiedMatching OMIM:614663 RALY skos:exactMatch hgnc.symbol:RALY semapv:UnspecifiedMatching OMIM:614663 RALY skos:exactMatch ncbigene:22913 semapv:UnspecifiedMatching @@ -35168,52 +35172,52 @@ OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:TREML4 semapv:UnspecifiedMatching OMIM:614664 TREML4 skos:exactMatch ncbigene:285852 semapv:UnspecifiedMatching OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:CCDC78 semapv:UnspecifiedMatching OMIM:614666 CCDC78 skos:exactMatch ncbigene:124093 semapv:UnspecifiedMatching -OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching OMIM:614667 MTO1 skos:exactMatch ncbigene:25821 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553407 semapv:UnspecifiedMatching OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553408 semapv:UnspecifiedMatching -OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:CCDC103 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching -OMIM:614681 AGPHD1 skos:exactMatch ncbigene:123688 semapv:UnspecifiedMatching OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:HYKK semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch ncbigene:123688 semapv:UnspecifiedMatching OMIM:614682 AGXT2L1 skos:exactMatch ncbigene:64850 semapv:UnspecifiedMatching OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:ETNPPL semapv:UnspecifiedMatching -OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:PHYKPL semapv:UnspecifiedMatching OMIM:614683 PHYKPL skos:exactMatch ncbigene:85007 semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:PHYKPL semapv:UnspecifiedMatching OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:ZNF597 semapv:UnspecifiedMatching OMIM:614685 ZNF597 skos:exactMatch ncbigene:146434 semapv:UnspecifiedMatching OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:FAM50B semapv:UnspecifiedMatching OMIM:614686 FAM50B skos:exactMatch ncbigene:26240 semapv:UnspecifiedMatching OMIM:614690 C4ORF48 skos:exactMatch hgnc.symbol:C4orf48 semapv:UnspecifiedMatching OMIM:614690 C4ORF48 skos:exactMatch ncbigene:401115 semapv:UnspecifiedMatching -OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:ATMIN semapv:UnspecifiedMatching -OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:RPRD1B semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching OMIM:614694 RPRD1B skos:exactMatch ncbigene:58490 semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:RPRD1B semapv:UnspecifiedMatching OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:RPRD2 semapv:UnspecifiedMatching OMIM:614695 RPRD2 skos:exactMatch ncbigene:23248 semapv:UnspecifiedMatching OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:KATNAL2 semapv:UnspecifiedMatching OMIM:614697 KATNAL2 skos:exactMatch ncbigene:83473 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch hgnc.symbol:COX20 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch ncbigene:116228 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch UMLS:C3469918 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch hgnc.symbol:COX20 semapv:UnspecifiedMatching OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch UMLS:C3553529 semapv:UnspecifiedMatching OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:SRGAP2B semapv:UnspecifiedMatching OMIM:614703 SRGAP2B skos:exactMatch ncbigene:647135 semapv:UnspecifiedMatching OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:SRGAP2C semapv:UnspecifiedMatching OMIM:614704 SRGAP2C skos:exactMatch ncbigene:653464 semapv:UnspecifiedMatching -OMIM:614705 SRGAP2D skos:exactMatch ncbigene:100996712 semapv:UnspecifiedMatching OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:SRGAP2D semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch ncbigene:100996712 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:SCUBE3 semapv:UnspecifiedMatching OMIM:614708 SCUBE3 skos:exactMatch ncbigene:222663 semapv:UnspecifiedMatching OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:LYRM1 semapv:UnspecifiedMatching @@ -35222,18 +35226,18 @@ OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:FAM72A semapv:UnspecifiedMatching OMIM:614710 FAM72A skos:exactMatch ncbigene:729533 semapv:UnspecifiedMatching OMIM:614711 FAM72B skos:exactMatch ncbigene:653820 semapv:UnspecifiedMatching OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:FAM72B semapv:UnspecifiedMatching -OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:FAM72D semapv:UnspecifiedMatching OMIM:614712 FAM72D skos:exactMatch ncbigene:728833 semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:FAM72D semapv:UnspecifiedMatching OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:RASSF10 semapv:UnspecifiedMatching OMIM:614713 RASSF10 skos:exactMatch ncbigene:644943 semapv:UnspecifiedMatching OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:TMIGD2 semapv:UnspecifiedMatching OMIM:614715 TMIGD2 skos:exactMatch ncbigene:126259 semapv:UnspecifiedMatching OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:CARMIL3 semapv:UnspecifiedMatching OMIM:614716 CARMIL3 skos:exactMatch ncbigene:90668 semapv:UnspecifiedMatching -OMIM:614717 ANAPC15 skos:exactMatch ncbigene:25906 semapv:UnspecifiedMatching OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:ANAPC15 semapv:UnspecifiedMatching -OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:KNSTRN semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch ncbigene:25906 semapv:UnspecifiedMatching OMIM:614718 KNSTRN skos:exactMatch ncbigene:90417 semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:KNSTRN semapv:UnspecifiedMatching OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:KCMF1 semapv:UnspecifiedMatching OMIM:614719 KCMF1 skos:exactMatch ncbigene:56888 semapv:UnspecifiedMatching OMIM:614720 CDK19 skos:exactMatch UMLS:C1540298 semapv:UnspecifiedMatching @@ -35242,26 +35246,26 @@ OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:CDK19 semapv:UnspecifiedMatching OMIM:614720 CDK19 skos:exactMatch ncbigene:23097 semapv:UnspecifiedMatching OMIM:614721 TSPYL5 skos:exactMatch ncbigene:85453 semapv:UnspecifiedMatching OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:TSPYL5 semapv:UnspecifiedMatching -OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:MIR3120 semapv:UnspecifiedMatching OMIM:614722 MIR3120 skos:exactMatch ncbigene:100422882 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:MIR3120 semapv:UnspecifiedMatching OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:CEP63 semapv:UnspecifiedMatching OMIM:614724 CEP63 skos:exactMatch ncbigene:80254 semapv:UnspecifiedMatching OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:SERAC1 semapv:UnspecifiedMatching OMIM:614725 SERAC1 skos:exactMatch ncbigene:84947 semapv:UnspecifiedMatching OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:TMEM165 semapv:UnspecifiedMatching OMIM:614726 TMEM165 skos:exactMatch ncbigene:55858 semapv:UnspecifiedMatching -OMIM:614729 COPS6 skos:exactMatch ncbigene:10980 semapv:UnspecifiedMatching OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:COPS6 semapv:UnspecifiedMatching -OMIM:614730 PIGO skos:exactMatch hgnc.symbol:PIGO semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch ncbigene:10980 semapv:UnspecifiedMatching OMIM:614730 PIGO skos:exactMatch ncbigene:84720 semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch hgnc.symbol:PIGO semapv:UnspecifiedMatching OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:MIR193A semapv:UnspecifiedMatching OMIM:614733 MIR193A skos:exactMatch ncbigene:406968 semapv:UnspecifiedMatching OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:MIR193B semapv:UnspecifiedMatching OMIM:614734 MIR193B skos:exactMatch ncbigene:574455 semapv:UnspecifiedMatching OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:MIR365A semapv:UnspecifiedMatching OMIM:614735 MIR365A skos:exactMatch ncbigene:100126355 semapv:UnspecifiedMatching -OMIM:614737 MPC2 skos:exactMatch ncbigene:25874 semapv:UnspecifiedMatching OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:MPC2 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch ncbigene:25874 semapv:UnspecifiedMatching OMIM:614738 MPC1 skos:exactMatch ncbigene:51660 semapv:UnspecifiedMatching OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:MPC1 semapv:UnspecifiedMatching OMIM:614753 malan syndrome skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching @@ -35272,41 +35276,41 @@ OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:MIR520H semapv:UnspecifiedMatchi OMIM:614755 MIR520H skos:exactMatch ncbigene:574493 semapv:UnspecifiedMatching OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch UMLS:C3553661 semapv:UnspecifiedMatching OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching -OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:IFITM5 semapv:UnspecifiedMatching OMIM:614757 IFITM5 skos:exactMatch ncbigene:387733 semapv:UnspecifiedMatching -OMIM:614758 DCTN4 skos:exactMatch ncbigene:51164 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:IFITM5 semapv:UnspecifiedMatching OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:DCTN4 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch ncbigene:51164 semapv:UnspecifiedMatching OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:CFAP53 semapv:UnspecifiedMatching OMIM:614759 CFAP53 skos:exactMatch ncbigene:220136 semapv:UnspecifiedMatching OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:SLC66A1 semapv:UnspecifiedMatching OMIM:614760 SLC66A1 skos:exactMatch ncbigene:54896 semapv:UnspecifiedMatching OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:GLYATL1 semapv:UnspecifiedMatching OMIM:614761 GLYATL1 skos:exactMatch ncbigene:92292 semapv:UnspecifiedMatching -OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:GLYATL2 semapv:UnspecifiedMatching OMIM:614762 GLYATL2 skos:exactMatch ncbigene:219970 semapv:UnspecifiedMatching -OMIM:614763 GLYATL3 skos:exactMatch ncbigene:389396 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:GLYATL2 semapv:UnspecifiedMatching OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:GLYATL3 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch ncbigene:389396 semapv:UnspecifiedMatching OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:KATNAL1 semapv:UnspecifiedMatching OMIM:614764 KATNAL1 skos:exactMatch ncbigene:84056 semapv:UnspecifiedMatching OMIM:614765 STRN skos:exactMatch hgnc.symbol:STRN semapv:UnspecifiedMatching OMIM:614765 STRN skos:exactMatch ncbigene:6801 semapv:UnspecifiedMatching -OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:STRN3 semapv:UnspecifiedMatching OMIM:614766 STRN3 skos:exactMatch ncbigene:29966 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:STRN3 semapv:UnspecifiedMatching OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:STRN4 semapv:UnspecifiedMatching OMIM:614767 STRN4 skos:exactMatch ncbigene:29888 semapv:UnspecifiedMatching -OMIM:614768 TMEM66 skos:exactMatch ncbigene:51669 semapv:UnspecifiedMatching OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:SARAF semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch UMLS:C1824229 semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch ncbigene:51669 semapv:UnspecifiedMatching OMIM:614769 COA1 skos:exactMatch hgnc.symbol:COA1 semapv:UnspecifiedMatching OMIM:614769 COA1 skos:exactMatch ncbigene:55744 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch UMLS:C3541664 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch UMLS:C1824229 semapv:UnspecifiedMatching OMIM:614770 PET100 skos:exactMatch hgnc.symbol:PET100 semapv:UnspecifiedMatching OMIM:614770 PET100 skos:exactMatch ncbigene:100131801 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch ncbigene:100303755 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch UMLS:C3541664 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching OMIM:614771 PET117 skos:exactMatch hgnc.symbol:PET117 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch ncbigene:100303755 semapv:UnspecifiedMatching OMIM:614771 PET117 skos:exactMatch UMLS:C3471365 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch UMLS:C1425251 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch hgnc.symbol:COA6 semapv:UnspecifiedMatching @@ -35320,9 +35324,9 @@ OMIM:614775 COA3 skos:exactMatch UMLS:C1824580 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch hgnc.symbol:COA3 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch ncbigene:28958 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:SIK3 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch UMLS:C2828701 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch UMLS:C4748455 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:SIK3 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch ncbigene:23387 semapv:UnspecifiedMatching OMIM:614777 MMS19 skos:exactMatch ncbigene:64210 semapv:UnspecifiedMatching OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:MMS19 semapv:UnspecifiedMatching @@ -35332,8 +35336,8 @@ OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:SNX10 semapv:UnspecifiedMatching OMIM:614780 SNX10 skos:exactMatch ncbigene:29887 semapv:UnspecifiedMatching OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:TECPR1 semapv:UnspecifiedMatching OMIM:614781 TECPR1 skos:exactMatch ncbigene:25851 semapv:UnspecifiedMatching -OMIM:614783 POC1A skos:exactMatch ncbigene:25886 semapv:UnspecifiedMatching OMIM:614783 POC1A skos:exactMatch hgnc.symbol:POC1A semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch ncbigene:25886 semapv:UnspecifiedMatching OMIM:614784 POC1B skos:exactMatch ncbigene:282809 semapv:UnspecifiedMatching OMIM:614784 POC1B skos:exactMatch hgnc.symbol:POC1B semapv:UnspecifiedMatching OMIM:614785 MFF skos:exactMatch hgnc.symbol:MFF semapv:UnspecifiedMatching @@ -35342,12 +35346,12 @@ OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:TMEM207 semapv:UnspecifiedMatchi OMIM:614786 TMEM207 skos:exactMatch ncbigene:131920 semapv:UnspecifiedMatching OMIM:614787 POGZ skos:exactMatch hgnc.symbol:POGZ semapv:UnspecifiedMatching OMIM:614787 POGZ skos:exactMatch ncbigene:23126 semapv:UnspecifiedMatching -OMIM:614788 FGD5 skos:exactMatch ncbigene:152273 semapv:UnspecifiedMatching OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:FGD5 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch ncbigene:152273 semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch ncbigene:285203 semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch hgnc.symbol:EOGT semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch UMLS:C1824159 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching OMIM:614790 WTIP skos:exactMatch hgnc.symbol:WTIP semapv:UnspecifiedMatching OMIM:614790 WTIP skos:exactMatch ncbigene:126374 semapv:UnspecifiedMatching OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:MIR199B semapv:UnspecifiedMatching @@ -35365,10 +35369,10 @@ OMIM:614796 AGPAT5 skos:exactMatch ncbigene:55326 semapv:UnspecifiedMatching OMIM:614797 PELI1 skos:exactMatch ncbigene:57162 semapv:UnspecifiedMatching OMIM:614797 PELI1 skos:exactMatch UMLS:C1418453 semapv:UnspecifiedMatching OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:PELI1 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch ncbigene:57161 semapv:UnspecifiedMatching OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:PELI2 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch ncbigene:57161 semapv:UnspecifiedMatching OMIM:614798 PELI2 skos:exactMatch UMLS:C1418454 semapv:UnspecifiedMatching -OMIM:614799 C1ORF109 skos:exactMatch hgnc.symbol:C1orf109 semapv:UnspecifiedMatching +OMIM:614799 C1ORF109 skos:exactMatch hgnc.symbol:AIRIM semapv:UnspecifiedMatching OMIM:614799 C1ORF109 skos:exactMatch ncbigene:54955 semapv:UnspecifiedMatching OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:MSL1 semapv:UnspecifiedMatching OMIM:614801 MSL1 skos:exactMatch ncbigene:339287 semapv:UnspecifiedMatching @@ -35376,61 +35380,61 @@ OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:MSL2 semapv:UnspecifiedMatching OMIM:614802 MSL2 skos:exactMatch ncbigene:55167 semapv:UnspecifiedMatching OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:DMRTA1 semapv:UnspecifiedMatching OMIM:614803 DMRTA1 skos:exactMatch ncbigene:63951 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:DMRTA2 semapv:UnspecifiedMatching OMIM:614804 DMRTA2 skos:exactMatch ncbigene:63950 semapv:UnspecifiedMatching OMIM:614804 DMRTA2 skos:exactMatch UMLS:C1422262 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:DMRTA2 semapv:UnspecifiedMatching OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:DMRTB1 semapv:UnspecifiedMatching OMIM:614805 DMRTB1 skos:exactMatch ncbigene:63948 semapv:UnspecifiedMatching OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:DMRTC2 semapv:UnspecifiedMatching OMIM:614806 DMRTC2 skos:exactMatch ncbigene:63946 semapv:UnspecifiedMatching OMIM:614810 multiple sclerosis, susceptibility to, 5 skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:614811 L3HYPDH skos:exactMatch ncbigene:112849 semapv:UnspecifiedMatching OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:L3HYPDH semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch ncbigene:112849 semapv:UnspecifiedMatching OMIM:614812 NUPR1 skos:exactMatch ncbigene:26471 semapv:UnspecifiedMatching OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:NUPR1 semapv:UnspecifiedMatching -OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching +OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching OMIM:614818 FRY skos:exactMatch UMLS:C1825319 semapv:UnspecifiedMatching OMIM:614818 FRY skos:exactMatch hgnc.symbol:FRY semapv:UnspecifiedMatching OMIM:614818 FRY skos:exactMatch ncbigene:10129 semapv:UnspecifiedMatching OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:PTCSC3 semapv:UnspecifiedMatching OMIM:614821 PTCSC3 skos:exactMatch ncbigene:100886964 semapv:UnspecifiedMatching -OMIM:614824 AP5S1 skos:exactMatch ncbigene:55317 semapv:UnspecifiedMatching OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:AP5S1 semapv:UnspecifiedMatching -OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:REPS1 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch ncbigene:55317 semapv:UnspecifiedMatching OMIM:614825 REPS1 skos:exactMatch ncbigene:85021 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:REPS1 semapv:UnspecifiedMatching OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:DNAJC11 semapv:UnspecifiedMatching OMIM:614827 DNAJC11 skos:exactMatch ncbigene:55735 semapv:UnspecifiedMatching OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:POMGNT2 semapv:UnspecifiedMatching OMIM:614828 POMGNT2 skos:exactMatch ncbigene:84892 semapv:UnspecifiedMatching -OMIM:614829 ODAPH skos:exactMatch ncbigene:152816 semapv:UnspecifiedMatching OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:ODAPH semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch ncbigene:152816 semapv:UnspecifiedMatching OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching -OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching OMIM:614835 ACTBL2 skos:exactMatch ncbigene:345651 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching OMIM:614843 ODAM skos:exactMatch hgnc.symbol:ODAM semapv:UnspecifiedMatching OMIM:614843 ODAM skos:exactMatch ncbigene:54959 semapv:UnspecifiedMatching OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:CEP164 semapv:UnspecifiedMatching OMIM:614848 CEP164 skos:exactMatch ncbigene:22897 semapv:UnspecifiedMatching -OMIM:614853 CRLF3 skos:exactMatch ncbigene:51379 semapv:UnspecifiedMatching OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:CRLF3 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch ncbigene:55379 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch ncbigene:51379 semapv:UnspecifiedMatching OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:LRRC59 semapv:UnspecifiedMatching OMIM:614854 LRRC59 skos:exactMatch UMLS:C1825904 semapv:UnspecifiedMatching -OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:TBC1D14 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch ncbigene:55379 semapv:UnspecifiedMatching OMIM:614855 TBC1D14 skos:exactMatch ncbigene:57533 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:TBC1D14 semapv:UnspecifiedMatching OMIM:614860 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching OMIM:614860 dystonia 23 skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:DNAAF5 semapv:UnspecifiedMatching OMIM:614864 DNAAF5 skos:exactMatch ncbigene:54919 semapv:UnspecifiedMatching -OMIM:614865 DBET skos:exactMatch ncbigene:100419743 semapv:UnspecifiedMatching OMIM:614865 DBET skos:exactMatch hgnc.symbol:DBET semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch ncbigene:100419743 semapv:UnspecifiedMatching OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching -OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:VWA3B semapv:UnspecifiedMatching OMIM:614884 VWA3B skos:exactMatch ncbigene:200403 semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:VWA3B semapv:UnspecifiedMatching OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:AAGAB semapv:UnspecifiedMatching OMIM:614888 AAGAB skos:exactMatch ncbigene:79719 semapv:UnspecifiedMatching OMIM:614889 immunodeficiency 28 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching @@ -35456,8 +35460,8 @@ OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:HIKESHI semapv:UnspecifiedMatchi OMIM:614908 HIKESHI skos:exactMatch ncbigene:51501 semapv:UnspecifiedMatching OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:TMEM174 semapv:UnspecifiedMatching OMIM:614909 TMEM174 skos:exactMatch ncbigene:134288 semapv:UnspecifiedMatching -OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:C1QTNF6 semapv:UnspecifiedMatching OMIM:614910 C1QTNF6 skos:exactMatch ncbigene:114904 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:C1QTNF6 semapv:UnspecifiedMatching OMIM:614911 C1QTNF4 skos:exactMatch ncbigene:114900 semapv:UnspecifiedMatching OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:C1QTNF4 semapv:UnspecifiedMatching OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:TRABD2A semapv:UnspecifiedMatching @@ -35466,10 +35470,10 @@ OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:TRABD2B semapv:UnspecifiedMatchi OMIM:614913 TRABD2B skos:exactMatch ncbigene:388630 semapv:UnspecifiedMatching OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:MIR298 semapv:UnspecifiedMatching OMIM:614914 MIR298 skos:exactMatch ncbigene:100126296 semapv:UnspecifiedMatching -OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:RMND1 semapv:UnspecifiedMatching OMIM:614917 RMND1 skos:exactMatch ncbigene:55005 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch ncbigene:55037 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:RMND1 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:PTCD3 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch ncbigene:55037 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch UMLS:C1826731 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:NOA1 semapv:UnspecifiedMatching @@ -35499,8 +35503,8 @@ OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:TAMM41 semapv:UnspecifiedMatching OMIM:614948 TAMM41 skos:exactMatch ncbigene:132001 semapv:UnspecifiedMatching OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:TMEM231 semapv:UnspecifiedMatching OMIM:614949 TMEM231 skos:exactMatch ncbigene:79583 semapv:UnspecifiedMatching -OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:TMEM17 semapv:UnspecifiedMatching OMIM:614950 TMEM17 skos:exactMatch ncbigene:200728 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:TMEM17 semapv:UnspecifiedMatching OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:HEATR3 semapv:UnspecifiedMatching OMIM:614951 HEATR3 skos:exactMatch ncbigene:55027 semapv:UnspecifiedMatching OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:SLFN5 semapv:UnspecifiedMatching @@ -35509,8 +35513,8 @@ OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:SLFN11 semapv:UnspecifiedMatching OMIM:614953 SLFN11 skos:exactMatch ncbigene:91607 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:SLFN12 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch ncbigene:55106 semapv:UnspecifiedMatching -OMIM:614956 SLFN12L skos:exactMatch ncbigene:100506736 semapv:UnspecifiedMatching OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:SLFN12L semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch ncbigene:100506736 semapv:UnspecifiedMatching OMIM:614957 SLFN13 skos:exactMatch ncbigene:146857 semapv:UnspecifiedMatching OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:SLFN13 semapv:UnspecifiedMatching OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:SLFN14 semapv:UnspecifiedMatching @@ -35521,41 +35525,41 @@ OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:PLD6 semapv:UnspecifiedMatching OMIM:614960 PLD6 skos:exactMatch ncbigene:201164 semapv:UnspecifiedMatching OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:ELFN1 semapv:UnspecifiedMatching OMIM:614964 ELFN1 skos:exactMatch ncbigene:392617 semapv:UnspecifiedMatching -OMIM:614965 SCRN1 skos:exactMatch ncbigene:9805 semapv:UnspecifiedMatching OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:SCRN1 semapv:UnspecifiedMatching -OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:SCRN2 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch ncbigene:9805 semapv:UnspecifiedMatching OMIM:614966 SCRN2 skos:exactMatch ncbigene:90507 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:SCRN2 semapv:UnspecifiedMatching OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:SCRN3 semapv:UnspecifiedMatching OMIM:614967 SCRN3 skos:exactMatch ncbigene:79634 semapv:UnspecifiedMatching OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:SH2D4A semapv:UnspecifiedMatching OMIM:614968 SH2D4A skos:exactMatch ncbigene:63898 semapv:UnspecifiedMatching OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:TUG1 semapv:UnspecifiedMatching OMIM:614971 TUG1 skos:exactMatch ncbigene:55000 semapv:UnspecifiedMatching -OMIM:614975 FENDRR skos:exactMatch ncbigene:400550 semapv:UnspecifiedMatching OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:FENDRR semapv:UnspecifiedMatching -OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:LINC01081 semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch ncbigene:400550 semapv:UnspecifiedMatching OMIM:614977 LINC01081 skos:exactMatch ncbigene:101154687 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:LINC01081 semapv:UnspecifiedMatching OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:LINC01082 semapv:UnspecifiedMatching OMIM:614978 LINC01082 skos:exactMatch ncbigene:100506542 semapv:UnspecifiedMatching OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching -OMIM:614981 ATPIF1 skos:exactMatch ncbigene:93974 semapv:UnspecifiedMatching OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:ATP5IF1 semapv:UnspecifiedMatching -OMIM:614982 SMCHD1 skos:exactMatch ncbigene:23347 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch ncbigene:93974 semapv:UnspecifiedMatching OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:SMCHD1 semapv:UnspecifiedMatching -OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:BATF2 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch ncbigene:23347 semapv:UnspecifiedMatching OMIM:614983 BATF2 skos:exactMatch ncbigene:116071 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:BATF2 semapv:UnspecifiedMatching OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:DHTKD1 semapv:UnspecifiedMatching OMIM:614984 DHTKD1 skos:exactMatch ncbigene:55526 semapv:UnspecifiedMatching OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:HELLPAR semapv:UnspecifiedMatching OMIM:614985 HELLPAR skos:exactMatch ncbigene:101101692 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:CAMK2N1 semapv:UnspecifiedMatching OMIM:614986 CAMK2N1 skos:exactMatch UMLS:C1824522 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:CAMK2N1 semapv:UnspecifiedMatching OMIM:614986 CAMK2N1 skos:exactMatch ncbigene:55450 semapv:UnspecifiedMatching -OMIM:614987 EPS8L1 skos:exactMatch ncbigene:54869 semapv:UnspecifiedMatching OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:EPS8L1 semapv:UnspecifiedMatching -OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:EPS8L2 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch ncbigene:54869 semapv:UnspecifiedMatching OMIM:614988 EPS8L2 skos:exactMatch ncbigene:64787 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:EPS8L2 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch UMLS:C1333349 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:EPS8L3 semapv:UnspecifiedMatching @@ -35573,9 +35577,9 @@ OMIM:614996 MSE skos:exactMatch ncbigene:101180900 semapv:UnspecifiedMatching OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:GATAD2A semapv:UnspecifiedMatching OMIM:614997 GATAD2A skos:exactMatch ncbigene:54815 semapv:UnspecifiedMatching OMIM:614998 GATAD2B skos:exactMatch ncbigene:57459 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch UMLS:C1539553 semapv:UnspecifiedMatching OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:GATAD2B semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch UMLS:C1539553 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:CYP4X1 semapv:UnspecifiedMatching OMIM:614999 CYP4X1 skos:exactMatch ncbigene:260293 semapv:UnspecifiedMatching OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:TECPR2 semapv:UnspecifiedMatching @@ -35592,8 +35596,8 @@ OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch UMLS:C OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:H2AC11 semapv:UnspecifiedMatching OMIM:615012 HIST1H2AG skos:exactMatch ncbigene:8969 semapv:UnspecifiedMatching -OMIM:615013 HIST1H2AH skos:exactMatch ncbigene:85235 semapv:UnspecifiedMatching OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:H2AC12 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch ncbigene:85235 semapv:UnspecifiedMatching OMIM:615014 HIST2H2AB skos:exactMatch ncbigene:317772 semapv:UnspecifiedMatching OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:H2AC21 semapv:UnspecifiedMatching OMIM:615015 HIST3H2A skos:exactMatch hgnc.symbol:H2AC25 semapv:UnspecifiedMatching @@ -35613,61 +35617,61 @@ OMIM:615029 CBLN4 skos:exactMatch ncbigene:140689 semapv:UnspecifiedMatching OMIM:615032 intellectual developmental disorder with autism and macrocephaly skos:exactMatch UMLS:C3554373 semapv:UnspecifiedMatching OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:MIR410 semapv:UnspecifiedMatching OMIM:615036 MIR410 skos:exactMatch ncbigene:574434 semapv:UnspecifiedMatching -OMIM:615037 MIR487B skos:exactMatch ncbigene:664616 semapv:UnspecifiedMatching OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:MIR487B semapv:UnspecifiedMatching -OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:ODAD1 semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch ncbigene:664616 semapv:UnspecifiedMatching OMIM:615038 ODAD1 skos:exactMatch ncbigene:93233 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:ODAD1 semapv:UnspecifiedMatching OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:NDST4 semapv:UnspecifiedMatching OMIM:615039 NDST4 skos:exactMatch ncbigene:64579 semapv:UnspecifiedMatching OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:H2BC11 semapv:UnspecifiedMatching OMIM:615044 HIST1H2BJ skos:exactMatch ncbigene:8970 semapv:UnspecifiedMatching -OMIM:615045 HIST1H2BK skos:exactMatch ncbigene:85236 semapv:UnspecifiedMatching OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:H2BC12 semapv:UnspecifiedMatching -OMIM:615046 HIST3H2BB skos:exactMatch ncbigene:128312 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch ncbigene:85236 semapv:UnspecifiedMatching OMIM:615046 HIST3H2BB skos:exactMatch hgnc.symbol:H2BC26 semapv:UnspecifiedMatching +OMIM:615046 HIST3H2BB skos:exactMatch ncbigene:128312 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch ncbigene:26115 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:TANC2 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C1823227 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C5394588 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C5394589 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:TANC2 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch ncbigene:26115 semapv:UnspecifiedMatching OMIM:615049 WAC skos:exactMatch hgnc.symbol:WAC semapv:UnspecifiedMatching OMIM:615049 WAC skos:exactMatch ncbigene:51322 semapv:UnspecifiedMatching OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:ASB5 semapv:UnspecifiedMatching OMIM:615050 ASB5 skos:exactMatch ncbigene:140458 semapv:UnspecifiedMatching -OMIM:615051 ASB6 skos:exactMatch ncbigene:140459 semapv:UnspecifiedMatching OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:ASB6 semapv:UnspecifiedMatching -OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:ASB7 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch ncbigene:140459 semapv:UnspecifiedMatching OMIM:615052 ASB7 skos:exactMatch ncbigene:140460 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:ASB7 semapv:UnspecifiedMatching OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:ASB8 semapv:UnspecifiedMatching OMIM:615053 ASB8 skos:exactMatch ncbigene:140461 semapv:UnspecifiedMatching OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:ASB10 semapv:UnspecifiedMatching OMIM:615054 ASB10 skos:exactMatch ncbigene:136371 semapv:UnspecifiedMatching OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:ASB13 semapv:UnspecifiedMatching OMIM:615055 ASB13 skos:exactMatch ncbigene:79754 semapv:UnspecifiedMatching -OMIM:615056 ASB16 skos:exactMatch ncbigene:92591 semapv:UnspecifiedMatching OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:ASB16 semapv:UnspecifiedMatching -OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch ncbigene:92591 semapv:UnspecifiedMatching OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching OMIM:615059 hypotrichosis 11 skos:exactMatch UMLS:C3554409 semapv:UnspecifiedMatching OMIM:615059 hypotrichosis 11 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:SCGB1D1 semapv:UnspecifiedMatching OMIM:615060 SCGB1D1 skos:exactMatch ncbigene:10648 semapv:UnspecifiedMatching OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:SCGB1D2 semapv:UnspecifiedMatching OMIM:615061 SCGB1D2 skos:exactMatch ncbigene:10647 semapv:UnspecifiedMatching -OMIM:615062 SCGB1D4 skos:exactMatch ncbigene:404552 semapv:UnspecifiedMatching OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:SCGB1D4 semapv:UnspecifiedMatching -OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:SCGB2B2 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch ncbigene:404552 semapv:UnspecifiedMatching OMIM:615063 SCGB2B2 skos:exactMatch ncbigene:284402 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:SCGB2B2 semapv:UnspecifiedMatching OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:SLC25A29 semapv:UnspecifiedMatching OMIM:615064 SLC25A29 skos:exactMatch ncbigene:123096 semapv:UnspecifiedMatching OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:EPG5 semapv:UnspecifiedMatching OMIM:615068 EPG5 skos:exactMatch ncbigene:57724 semapv:UnspecifiedMatching OMIM:615069 H4-16 skos:exactMatch hgnc.symbol:H4C16 semapv:UnspecifiedMatching OMIM:615069 H4-16 skos:exactMatch ncbigene:121504 semapv:UnspecifiedMatching -OMIM:615070 MIR590 skos:exactMatch ncbigene:693175 semapv:UnspecifiedMatching OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:MIR590 semapv:UnspecifiedMatching -OMIM:615071 alazami syndrome skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch ncbigene:693175 semapv:UnspecifiedMatching OMIM:615071 alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching +OMIM:615071 alazami syndrome skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching OMIM:615074 gand syndrome skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching OMIM:615074 gand syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:MGME1 semapv:UnspecifiedMatching @@ -35678,36 +35682,36 @@ OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:GOLT1B semapv:UnspecifiedMatching OMIM:615078 GOLT1B skos:exactMatch ncbigene:51026 semapv:UnspecifiedMatching OMIM:615079 ASUN skos:exactMatch ncbigene:55726 semapv:UnspecifiedMatching OMIM:615079 ASUN skos:exactMatch hgnc.symbol:INTS13 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch UMLS:C3554460 semapv:UnspecifiedMatching OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:HARBI1 semapv:UnspecifiedMatching OMIM:615086 HARBI1 skos:exactMatch ncbigene:283254 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch UMLS:C3146638 semapv:UnspecifiedMatching OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:ATG13 semapv:UnspecifiedMatching OMIM:615088 ATG13 skos:exactMatch ncbigene:9776 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch UMLS:C3146638 semapv:UnspecifiedMatching OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:ATG101 semapv:UnspecifiedMatching OMIM:615089 ATG101 skos:exactMatch ncbigene:60673 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch ncbigene:101180976 semapv:UnspecifiedMatching OMIM:615090 IFNL4 skos:exactMatch UMLS:C3541708 semapv:UnspecifiedMatching OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:IFNL4 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch ncbigene:101180976 semapv:UnspecifiedMatching OMIM:615093 LY6K skos:exactMatch hgnc.symbol:LY6K semapv:UnspecifiedMatching OMIM:615093 LY6K skos:exactMatch ncbigene:54742 semapv:UnspecifiedMatching OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:PROX2 semapv:UnspecifiedMatching OMIM:615094 PROX2 skos:exactMatch ncbigene:283571 semapv:UnspecifiedMatching OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch UMLS:C3554499 semapv:UnspecifiedMatching -OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:MIR217 semapv:UnspecifiedMatching OMIM:615096 MIR217 skos:exactMatch ncbigene:406999 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:MIR217 semapv:UnspecifiedMatching OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:SLC6A13 semapv:UnspecifiedMatching OMIM:615097 SLC6A13 skos:exactMatch ncbigene:6540 semapv:UnspecifiedMatching OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:TTC28 semapv:UnspecifiedMatching OMIM:615098 TTC28 skos:exactMatch ncbigene:23331 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch ncbigene:151176 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch hgnc.symbol:ERFE semapv:UnspecifiedMatching OMIM:615099 ERFE skos:exactMatch UMLS:C2239422 semapv:UnspecifiedMatching -OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:CTTNBP2NL semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch hgnc.symbol:ERFE semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch ncbigene:151176 semapv:UnspecifiedMatching OMIM:615100 CTTNBP2NL skos:exactMatch ncbigene:55917 semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:CTTNBP2NL semapv:UnspecifiedMatching OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:TUBB2A semapv:UnspecifiedMatching OMIM:615101 TUBB2A skos:exactMatch ncbigene:7280 semapv:UnspecifiedMatching OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:TUBB6 semapv:UnspecifiedMatching @@ -35716,132 +35720,132 @@ OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:NCKAP5L semapv:UnspecifiedMatchi OMIM:615104 NCKAP5L skos:exactMatch ncbigene:57701 semapv:UnspecifiedMatching OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:MRI1 semapv:UnspecifiedMatching OMIM:615105 MRI1 skos:exactMatch ncbigene:84245 semapv:UnspecifiedMatching -OMIM:615110 WDR53 skos:exactMatch ncbigene:348793 semapv:UnspecifiedMatching OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:WDR53 semapv:UnspecifiedMatching -OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:DENND2D semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch ncbigene:348793 semapv:UnspecifiedMatching OMIM:615111 DENND2D skos:exactMatch ncbigene:79961 semapv:UnspecifiedMatching -OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:ZNF516 semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:DENND2D semapv:UnspecifiedMatching OMIM:615114 ZNF516 skos:exactMatch ncbigene:9658 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:ZNF516 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch UMLS:C2239906 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch UMLS:C3809650 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:ASXL3 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch ncbigene:80816 semapv:UnspecifiedMatching -OMIM:615116 SPEM1 skos:exactMatch ncbigene:374768 semapv:UnspecifiedMatching OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:SPEM1 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch ncbigene:374768 semapv:UnspecifiedMatching OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:C2orf88 semapv:UnspecifiedMatching OMIM:615117 C2ORF88 skos:exactMatch ncbigene:84281 semapv:UnspecifiedMatching OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching -OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:ANKRD13A semapv:UnspecifiedMatching OMIM:615123 ANKRD13A skos:exactMatch ncbigene:88455 semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:ANKRD13A semapv:UnspecifiedMatching OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:ANKRD13B semapv:UnspecifiedMatching OMIM:615124 ANKRD13B skos:exactMatch ncbigene:124930 semapv:UnspecifiedMatching -OMIM:615125 ANKRD13C skos:exactMatch ncbigene:81573 semapv:UnspecifiedMatching OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:ANKRD13C semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch ncbigene:81573 semapv:UnspecifiedMatching OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:ANKRD13D semapv:UnspecifiedMatching OMIM:615126 ANKRD13D skos:exactMatch ncbigene:338692 semapv:UnspecifiedMatching OMIM:615128 CENPX skos:exactMatch hgnc.symbol:CENPX semapv:UnspecifiedMatching OMIM:615128 CENPX skos:exactMatch ncbigene:201254 semapv:UnspecifiedMatching -OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:GALNT5 semapv:UnspecifiedMatching OMIM:615129 GALNT5 skos:exactMatch ncbigene:11227 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:GALNT5 semapv:UnspecifiedMatching OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:GALNT11 semapv:UnspecifiedMatching OMIM:615130 GALNT11 skos:exactMatch ncbigene:63917 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch ncbigene:117248 semapv:UnspecifiedMatching OMIM:615131 GALNT15 skos:exactMatch UMLS:C1427591 semapv:UnspecifiedMatching OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:GALNT15 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch ncbigene:117248 semapv:UnspecifiedMatching OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:GALNT16 semapv:UnspecifiedMatching OMIM:615132 GALNT16 skos:exactMatch ncbigene:57452 semapv:UnspecifiedMatching OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:GALNTL5 semapv:UnspecifiedMatching OMIM:615133 GALNTL5 skos:exactMatch ncbigene:168391 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching -OMIM:615136 GALNT18 skos:exactMatch ncbigene:374378 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:GALNT18 semapv:UnspecifiedMatching -OMIM:615137 GALNT17 skos:exactMatch ncbigene:64409 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch ncbigene:374378 semapv:UnspecifiedMatching OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:GALNT17 semapv:UnspecifiedMatching -OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:GALNTL6 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch ncbigene:64409 semapv:UnspecifiedMatching OMIM:615138 GALNTL6 skos:exactMatch ncbigene:442117 semapv:UnspecifiedMatching -OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:C12orf57 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:GALNTL6 semapv:UnspecifiedMatching OMIM:615140 C12ORF57 skos:exactMatch ncbigene:113246 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:C12orf57 semapv:UnspecifiedMatching OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:KIF2B semapv:UnspecifiedMatching OMIM:615142 KIF2B skos:exactMatch ncbigene:84643 semapv:UnspecifiedMatching OMIM:615143 USP20 skos:exactMatch hgnc.symbol:USP20 semapv:UnspecifiedMatching OMIM:615143 USP20 skos:exactMatch ncbigene:10868 semapv:UnspecifiedMatching -OMIM:615144 PRSS55 skos:exactMatch ncbigene:203074 semapv:UnspecifiedMatching OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:PRSS55 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch ncbigene:203074 semapv:UnspecifiedMatching OMIM:615146 USP33 skos:exactMatch hgnc.symbol:USP33 semapv:UnspecifiedMatching OMIM:615146 USP33 skos:exactMatch ncbigene:23032 semapv:UnspecifiedMatching -OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:MIR551A semapv:UnspecifiedMatching OMIM:615148 MIR551A skos:exactMatch ncbigene:693135 semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:MIR551A semapv:UnspecifiedMatching OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:MIR495 semapv:UnspecifiedMatching OMIM:615149 MIR495 skos:exactMatch ncbigene:574453 semapv:UnspecifiedMatching OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:MIR191 semapv:UnspecifiedMatching OMIM:615150 MIR191 skos:exactMatch ncbigene:406966 semapv:UnspecifiedMatching -OMIM:615151 MIR30C1 skos:exactMatch ncbigene:407031 semapv:UnspecifiedMatching OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:MIR30C1 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch ncbigene:407031 semapv:UnspecifiedMatching OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:KLHDC10 semapv:UnspecifiedMatching OMIM:615152 KLHDC10 skos:exactMatch ncbigene:23008 semapv:UnspecifiedMatching -OMIM:615153 MLKL skos:exactMatch hgnc.symbol:MLKL semapv:UnspecifiedMatching OMIM:615153 MLKL skos:exactMatch ncbigene:197259 semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch hgnc.symbol:MLKL semapv:UnspecifiedMatching OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:DYDC1 semapv:UnspecifiedMatching OMIM:615154 DYDC1 skos:exactMatch ncbigene:143241 semapv:UnspecifiedMatching -OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:HLA-DQB2 semapv:UnspecifiedMatching -OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:AKIRIN1 semapv:UnspecifiedMatching -OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:AKIRIN2 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching OMIM:615165 AKIRIN2 skos:exactMatch ncbigene:55122 semapv:UnspecifiedMatching -OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:CMC1 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:AKIRIN2 semapv:UnspecifiedMatching OMIM:615166 CMC1 skos:exactMatch ncbigene:152100 semapv:UnspecifiedMatching -OMIM:615167 LRWD1 skos:exactMatch ncbigene:222229 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:CMC1 semapv:UnspecifiedMatching OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:LRWD1 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch ncbigene:222229 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch UMLS:C2239529 semapv:UnspecifiedMatching OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:AMZ1 semapv:UnspecifiedMatching OMIM:615168 AMZ1 skos:exactMatch ncbigene:155185 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch UMLS:C2239529 semapv:UnspecifiedMatching -OMIM:615169 AMZ2 skos:exactMatch ncbigene:51321 semapv:UnspecifiedMatching OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:AMZ2 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch ncbigene:51321 semapv:UnspecifiedMatching OMIM:615171 loc100134040 gene skos:exactMatch ncbigene:100134040 semapv:UnspecifiedMatching -OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:RNFT1 semapv:UnspecifiedMatching OMIM:615172 RNFT1 skos:exactMatch ncbigene:51136 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:RNFT1 semapv:UnspecifiedMatching OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:LINC-ROR semapv:UnspecifiedMatching OMIM:615173 LINC-ROR skos:exactMatch ncbigene:100885779 semapv:UnspecifiedMatching OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:TDH semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch UMLS:C1539464 semapv:UnspecifiedMatching OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:TLCD3B semapv:UnspecifiedMatching OMIM:615175 TLCD3B skos:exactMatch ncbigene:83723 semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch UMLS:C1539464 semapv:UnspecifiedMatching OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:NPTN-IT1 semapv:UnspecifiedMatching OMIM:615176 NPTNIT1 skos:exactMatch ncbigene:101241892 semapv:UnspecifiedMatching -OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:RNF126 semapv:UnspecifiedMatching OMIM:615177 RNF126 skos:exactMatch ncbigene:55658 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:RNF126 semapv:UnspecifiedMatching OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:KXD1 semapv:UnspecifiedMatching OMIM:615178 KXD1 skos:exactMatch ncbigene:79036 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:TIMM21 semapv:UnspecifiedMatching OMIM:615180 TIMM21 skos:exactMatch UMLS:C3469993 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:TIMM21 semapv:UnspecifiedMatching OMIM:615180 TIMM21 skos:exactMatch ncbigene:29090 semapv:UnspecifiedMatching -OMIM:615183 C1ORF86 skos:exactMatch ncbigene:199990 semapv:UnspecifiedMatching OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:FAAP20 semapv:UnspecifiedMatching -OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:CWC22 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch ncbigene:199990 semapv:UnspecifiedMatching OMIM:615186 CWC22 skos:exactMatch ncbigene:57703 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:CWC22 semapv:UnspecifiedMatching OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:PGAP2 semapv:UnspecifiedMatching OMIM:615187 PGAP2 skos:exactMatch ncbigene:27315 semapv:UnspecifiedMatching OMIM:615188 cataract 39, multiple types skos:exactMatch UMLS:C3808800 semapv:UnspecifiedMatching OMIM:615188 cataract 39, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:ANKRD55 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching OMIM:615194 DHRS2 skos:exactMatch ncbigene:10202 semapv:UnspecifiedMatching OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:DHRS2 semapv:UnspecifiedMatching -OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:DHRS4L1 semapv:UnspecifiedMatching OMIM:615195 DHRS4L1 skos:exactMatch ncbigene:728635 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:DHRS4L1 semapv:UnspecifiedMatching OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:DHRS4L2 semapv:UnspecifiedMatching OMIM:615196 DHRS4L2 skos:exactMatch ncbigene:317749 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching -OMIM:615199 SLC35G5 skos:exactMatch ncbigene:83650 semapv:UnspecifiedMatching OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:SLC35G5 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch ncbigene:83650 semapv:UnspecifiedMatching OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:PLEKHF1 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch ncbigene:79156 semapv:UnspecifiedMatching OMIM:615200 PLEKHF1 skos:exactMatch UMLS:C1427120 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch ncbigene:79156 semapv:UnspecifiedMatching OMIM:615201 MIR1909 skos:exactMatch ncbigene:100302210 semapv:UnspecifiedMatching OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:MIR1909 semapv:UnspecifiedMatching OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:MIR1915 semapv:UnspecifiedMatching @@ -35852,52 +35856,52 @@ OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:ATP5MK semapv:UnspecifiedMatching OMIM:615204 ATP5MD skos:exactMatch ncbigene:84833 semapv:UnspecifiedMatching OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:SPINK13 semapv:UnspecifiedMatching OMIM:615205 SPINK13 skos:exactMatch ncbigene:153218 semapv:UnspecifiedMatching -OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:PLEKHF2 semapv:UnspecifiedMatching OMIM:615208 PLEKHF2 skos:exactMatch ncbigene:79666 semapv:UnspecifiedMatching -OMIM:615209 MIR149 skos:exactMatch ncbigene:406941 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:PLEKHF2 semapv:UnspecifiedMatching OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:MIR149 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch ncbigene:406941 semapv:UnspecifiedMatching OMIM:615210 PCNP skos:exactMatch hgnc.symbol:PCNP semapv:UnspecifiedMatching OMIM:615210 PCNP skos:exactMatch ncbigene:57092 semapv:UnspecifiedMatching OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:UHRF2 semapv:UnspecifiedMatching OMIM:615211 UHRF2 skos:exactMatch ncbigene:115426 semapv:UnspecifiedMatching OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:LRRC38 semapv:UnspecifiedMatching OMIM:615212 LRRC38 skos:exactMatch ncbigene:126755 semapv:UnspecifiedMatching -OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:LRRC55 semapv:UnspecifiedMatching OMIM:615213 LRRC55 skos:exactMatch ncbigene:219527 semapv:UnspecifiedMatching -OMIM:615215 KCNU1 skos:exactMatch ncbigene:157855 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:LRRC55 semapv:UnspecifiedMatching OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:KCNU1 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch ncbigene:157855 semapv:UnspecifiedMatching OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:KIFC2 semapv:UnspecifiedMatching OMIM:615216 KIFC2 skos:exactMatch ncbigene:90990 semapv:UnspecifiedMatching OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:LRRC52 semapv:UnspecifiedMatching OMIM:615218 LRRC52 skos:exactMatch ncbigene:440699 semapv:UnspecifiedMatching OMIM:615223 IFNE skos:exactMatch hgnc.symbol:IFNE semapv:UnspecifiedMatching OMIM:615223 IFNE skos:exactMatch ncbigene:338376 semapv:UnspecifiedMatching -OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching -OMIM:615227 C1QL3 skos:exactMatch ncbigene:389941 semapv:UnspecifiedMatching +OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:C1QL3 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch ncbigene:389941 semapv:UnspecifiedMatching OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4 skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:C1QL4 semapv:UnspecifiedMatching OMIM:615229 C1QL4 skos:exactMatch ncbigene:338761 semapv:UnspecifiedMatching OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:LINC01080 semapv:UnspecifiedMatching OMIM:615230 LINC01080 skos:exactMatch ncbigene:101515984 semapv:UnspecifiedMatching -OMIM:615231 RC3H2 skos:exactMatch ncbigene:54542 semapv:UnspecifiedMatching OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:RC3H2 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch ncbigene:54542 semapv:UnspecifiedMatching OMIM:615239 MIR7-1 skos:exactMatch ncbigene:407043 semapv:UnspecifiedMatching OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:MIR7-1 semapv:UnspecifiedMatching -OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:KCTD15 semapv:UnspecifiedMatching OMIM:615240 KCTD15 skos:exactMatch ncbigene:79047 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:KCTD15 semapv:UnspecifiedMatching OMIM:615241 TINCR skos:exactMatch hgnc.symbol:TINCR semapv:UnspecifiedMatching OMIM:615241 TINCR skos:exactMatch ncbigene:257000 semapv:UnspecifiedMatching OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:SMIM1 semapv:UnspecifiedMatching OMIM:615242 SMIM1 skos:exactMatch ncbigene:388588 semapv:UnspecifiedMatching OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:DEFB114 semapv:UnspecifiedMatching OMIM:615243 DEFB114 skos:exactMatch ncbigene:245928 semapv:UnspecifiedMatching -OMIM:615245 MIR671 skos:exactMatch ncbigene:768213 semapv:UnspecifiedMatching OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:MIR671 semapv:UnspecifiedMatching -OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:ZBED2 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch ncbigene:768213 semapv:UnspecifiedMatching OMIM:615246 ZBED2 skos:exactMatch ncbigene:79413 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:ZBED2 semapv:UnspecifiedMatching OMIM:615247 POMK skos:exactMatch hgnc.symbol:POMK semapv:UnspecifiedMatching OMIM:615247 POMK skos:exactMatch ncbigene:84197 semapv:UnspecifiedMatching OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:ZBED3 semapv:UnspecifiedMatching @@ -35906,28 +35910,28 @@ OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:ZBED5 semapv:UnspecifiedMatching OMIM:615251 ZBED5 skos:exactMatch ncbigene:58486 semapv:UnspecifiedMatching OMIM:615252 ZBED6CL skos:exactMatch ncbigene:113763 semapv:UnspecifiedMatching OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:ZBED10P semapv:UnspecifiedMatching -OMIM:615253 ZBED8 skos:exactMatch hgnc.symbol:FAM200C semapv:UnspecifiedMatching OMIM:615253 ZBED8 skos:exactMatch ncbigene:63920 semapv:UnspecifiedMatching +OMIM:615253 ZBED8 skos:exactMatch hgnc.symbol:FAM200C semapv:UnspecifiedMatching OMIM:615254 SCAND3 skos:exactMatch hgnc.symbol:SCAND3 semapv:UnspecifiedMatching OMIM:615254 SCAND3 skos:exactMatch ncbigene:114821 semapv:UnspecifiedMatching OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:METTL18 semapv:UnspecifiedMatching OMIM:615255 METTL18 skos:exactMatch ncbigene:92342 semapv:UnspecifiedMatching -OMIM:615256 ETFBKMT skos:exactMatch ncbigene:254013 semapv:UnspecifiedMatching OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:ETFBKMT semapv:UnspecifiedMatching -OMIM:615257 METTL21A skos:exactMatch ncbigene:151194 semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch ncbigene:254013 semapv:UnspecifiedMatching OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:METTL21A semapv:UnspecifiedMatching -OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:EEF1AKMT3 semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch ncbigene:151194 semapv:UnspecifiedMatching OMIM:615258 EEF1AKMT3 skos:exactMatch ncbigene:25895 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:EEF1AKMT3 semapv:UnspecifiedMatching OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:METTL21C semapv:UnspecifiedMatching OMIM:615259 METTL21C skos:exactMatch ncbigene:196541 semapv:UnspecifiedMatching OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:VCPKMT semapv:UnspecifiedMatching OMIM:615260 VCPKMT skos:exactMatch ncbigene:79609 semapv:UnspecifiedMatching -OMIM:615261 METTL22 skos:exactMatch ncbigene:79091 semapv:UnspecifiedMatching OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:METTL22 semapv:UnspecifiedMatching -OMIM:615262 METTL23 skos:exactMatch ncbigene:124512 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch ncbigene:79091 semapv:UnspecifiedMatching OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:METTL23 semapv:UnspecifiedMatching -OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:EEF2KMT semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch ncbigene:124512 semapv:UnspecifiedMatching OMIM:615263 EEF2KMT skos:exactMatch ncbigene:196483 semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:EEF2KMT semapv:UnspecifiedMatching OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:FNBP4 semapv:UnspecifiedMatching OMIM:615265 FNBP4 skos:exactMatch ncbigene:23360 semapv:UnspecifiedMatching OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching @@ -35935,8 +35939,8 @@ OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:40 OMIM:615275 ACOD1 skos:exactMatch UMLS:C2239547 semapv:UnspecifiedMatching OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:ACOD1 semapv:UnspecifiedMatching OMIM:615275 ACOD1 skos:exactMatch ncbigene:730249 semapv:UnspecifiedMatching -OMIM:615276 CERS3 skos:exactMatch ncbigene:204219 semapv:UnspecifiedMatching OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:CERS3 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch ncbigene:204219 semapv:UnspecifiedMatching OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching @@ -35944,61 +35948,61 @@ OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch Orphanet:1340 semapv OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch UMLS:C3809007 semapv:UnspecifiedMatching OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch ncbigene:149371 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:EXOC8 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch UMLS:C1428397 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch UMLS:C3809039 semapv:UnspecifiedMatching OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch UMLS:C1824106 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:DRC1 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch ncbigene:92749 semapv:UnspecifiedMatching -OMIM:615289 MISP skos:exactMatch hgnc.symbol:MISP semapv:UnspecifiedMatching OMIM:615289 MISP skos:exactMatch ncbigene:126353 semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch hgnc.symbol:MISP semapv:UnspecifiedMatching OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch UMLS:C4747715 semapv:UnspecifiedMatching OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017378 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:B3GALT6 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017377 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch ncbigene:126792 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:B3GALT6 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1425214 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch ncbigene:126792 semapv:UnspecifiedMatching OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:FAM111A semapv:UnspecifiedMatching OMIM:615292 FAM111A skos:exactMatch ncbigene:63901 semapv:UnspecifiedMatching -OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching OMIM:615295 USP34 skos:exactMatch hgnc.symbol:USP34 semapv:UnspecifiedMatching OMIM:615295 USP34 skos:exactMatch ncbigene:9736 semapv:UnspecifiedMatching -OMIM:615296 IL1F10 skos:exactMatch ncbigene:84639 semapv:UnspecifiedMatching OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:IL1F10 semapv:UnspecifiedMatching -OMIM:615297 adams-oliver syndrome 4 skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch ncbigene:84639 semapv:UnspecifiedMatching OMIM:615297 adams-oliver syndrome 4 skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching -OMIM:615298 symphalangism, proximal, 1b skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching +OMIM:615297 adams-oliver syndrome 4 skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching OMIM:615298 symphalangism, proximal, 1b skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching +OMIM:615298 symphalangism, proximal, 1b skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:NXNL2 semapv:UnspecifiedMatching OMIM:615299 NXNL2 skos:exactMatch ncbigene:158046 semapv:UnspecifiedMatching OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:TMEM214 semapv:UnspecifiedMatching OMIM:615301 TMEM214 skos:exactMatch ncbigene:54867 semapv:UnspecifiedMatching OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:ADAT3 semapv:UnspecifiedMatching OMIM:615302 ADAT3 skos:exactMatch ncbigene:113179 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch ncbigene:7197 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch UMLS:C1421119 semapv:UnspecifiedMatching OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:TRG-TCC1-1 semapv:UnspecifiedMatching -OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:TRV-CAC3-1 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch UMLS:C1421119 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch ncbigene:7197 semapv:UnspecifiedMatching OMIM:615304 TRV-CAC3-1 skos:exactMatch ncbigene:100189416 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:TRV-CAC3-1 semapv:UnspecifiedMatching OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:TRR-ACG1-2 semapv:UnspecifiedMatching OMIM:615305 TRR-ACG1-2 skos:exactMatch ncbigene:7231 semapv:UnspecifiedMatching OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:TRV-CAC1-6 semapv:UnspecifiedMatching OMIM:615306 TRV-CAC1-6 skos:exactMatch ncbigene:100189227 semapv:UnspecifiedMatching -OMIM:615307 TRV-AAC5-1 skos:exactMatch ncbigene:100189014 semapv:UnspecifiedMatching OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:TRV-AAC5-1 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch ncbigene:100189014 semapv:UnspecifiedMatching OMIM:615308 TRV-AAC4-1 skos:exactMatch ncbigene:100189161 semapv:UnspecifiedMatching OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:TRV-AAC4-1 semapv:UnspecifiedMatching -OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:TRT-AGT2-2 semapv:UnspecifiedMatching OMIM:615309 TRT-AGT2-2 skos:exactMatch ncbigene:100189340 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:TRT-AGT2-2 semapv:UnspecifiedMatching OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:TRV-AAC1-1 semapv:UnspecifiedMatching OMIM:615310 TRV-AAC1-1 skos:exactMatch ncbigene:100189318 semapv:UnspecifiedMatching OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:B3GNT7 semapv:UnspecifiedMatching @@ -36008,163 +36012,163 @@ OMIM:615314 craniosynostosis 3 skos:exactMatch UMLS:C3715051 semapv:UnspecifiedM OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching OMIM:615315 B3GNT6 skos:exactMatch ncbigene:192134 semapv:UnspecifiedMatching OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:B3GNT6 semapv:UnspecifiedMatching -OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:IBA57 semapv:UnspecifiedMatching OMIM:615316 IBA57 skos:exactMatch ncbigene:200205 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:IBA57 semapv:UnspecifiedMatching OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:ISCA2 semapv:UnspecifiedMatching OMIM:615317 ISCA2 skos:exactMatch ncbigene:122961 semapv:UnspecifiedMatching OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:TMEM14C semapv:UnspecifiedMatching OMIM:615318 TMEM14C skos:exactMatch ncbigene:51522 semapv:UnspecifiedMatching -OMIM:615319 IMPACT skos:exactMatch ncbigene:55364 semapv:UnspecifiedMatching OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:IMPACT semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C1539586 semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch ncbigene:55364 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch ncbigene:29925 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:GMPPB semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C1539586 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:GMPPB semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch ncbigene:29925 semapv:UnspecifiedMatching -OMIM:615321 CLIC6 skos:exactMatch ncbigene:54102 semapv:UnspecifiedMatching OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:CLIC6 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch ncbigene:54102 semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch ncbigene:375387 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch hgnc.symbol:NRROS semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch UMLS:C1537608 semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching -OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:JOSD1 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch hgnc.symbol:NRROS semapv:UnspecifiedMatching OMIM:615323 JOSD1 skos:exactMatch ncbigene:9929 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:JOSD1 semapv:UnspecifiedMatching OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:JOSD2 semapv:UnspecifiedMatching OMIM:615324 JOSD2 skos:exactMatch ncbigene:126119 semapv:UnspecifiedMatching OMIM:615326 IFNK skos:exactMatch hgnc.symbol:IFNK semapv:UnspecifiedMatching OMIM:615326 IFNK skos:exactMatch ncbigene:56832 semapv:UnspecifiedMatching -OMIM:615329 EXOC2 skos:exactMatch ncbigene:55770 semapv:UnspecifiedMatching OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:EXOC2 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch ncbigene:55770 semapv:UnspecifiedMatching OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:IRF2BP1 semapv:UnspecifiedMatching OMIM:615331 IRF2BP1 skos:exactMatch ncbigene:26145 semapv:UnspecifiedMatching -OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:IRF2BP2 semapv:UnspecifiedMatching OMIM:615332 IRF2BP2 skos:exactMatch ncbigene:359948 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:IRF2BP2 semapv:UnspecifiedMatching OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:B3GNT5 semapv:UnspecifiedMatching OMIM:615333 B3GNT5 skos:exactMatch ncbigene:84002 semapv:UnspecifiedMatching OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:CERS4 semapv:UnspecifiedMatching OMIM:615334 CERS4 skos:exactMatch ncbigene:79603 semapv:UnspecifiedMatching OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:CERS5 semapv:UnspecifiedMatching OMIM:615335 CERS5 skos:exactMatch ncbigene:91012 semapv:UnspecifiedMatching -OMIM:615336 CERS6 skos:exactMatch ncbigene:253782 semapv:UnspecifiedMatching OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:CERS6 semapv:UnspecifiedMatching -OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:B3GNTL1 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch ncbigene:253782 semapv:UnspecifiedMatching OMIM:615337 B3GNTL1 skos:exactMatch ncbigene:146712 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:B3GNTL1 semapv:UnspecifiedMatching OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:DNAJC15 semapv:UnspecifiedMatching OMIM:615339 DNAJC15 skos:exactMatch ncbigene:29103 semapv:UnspecifiedMatching -OMIM:615340 kelch-like 40: klhl40 skos:exactMatch ncbigene:131377 semapv:UnspecifiedMatching OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:KLHL40 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch ncbigene:131377 semapv:UnspecifiedMatching OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:CYP4A22 semapv:UnspecifiedMatching OMIM:615341 CYP4A22 skos:exactMatch ncbigene:284541 semapv:UnspecifiedMatching OMIM:615345 MYMK skos:exactMatch hgnc.symbol:MYMK semapv:UnspecifiedMatching OMIM:615345 MYMK skos:exactMatch ncbigene:389827 semapv:UnspecifiedMatching -OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:ATAD2B semapv:UnspecifiedMatching OMIM:615347 ATAD2B skos:exactMatch ncbigene:54454 semapv:UnspecifiedMatching -OMIM:615348 nemaline myopathy 8 skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:ATAD2B semapv:UnspecifiedMatching OMIM:615348 nemaline myopathy 8 skos:exactMatch UMLS:C3809209 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +OMIM:615348 nemaline myopathy 8 skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching -OMIM:615353 CCDC28A skos:exactMatch ncbigene:25901 semapv:UnspecifiedMatching OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:CCDC28A semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch ncbigene:25901 semapv:UnspecifiedMatching OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:LRIF1 semapv:UnspecifiedMatching OMIM:615354 LRIF1 skos:exactMatch ncbigene:55791 semapv:UnspecifiedMatching -OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:B3GNT8 semapv:UnspecifiedMatching OMIM:615357 B3GNT8 skos:exactMatch ncbigene:374907 semapv:UnspecifiedMatching -OMIM:615358 AK9 skos:exactMatch hgnc.symbol:AK9 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:B3GNT8 semapv:UnspecifiedMatching OMIM:615358 AK9 skos:exactMatch ncbigene:221264 semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch hgnc.symbol:MIOS semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch hgnc.symbol:AK9 semapv:UnspecifiedMatching OMIM:615359 MIOS skos:exactMatch UMLS:C2681663 semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch hgnc.symbol:MIOS semapv:UnspecifiedMatching OMIM:615359 MIOS skos:exactMatch ncbigene:54468 semapv:UnspecifiedMatching -OMIM:615364 AK7 skos:exactMatch ncbigene:122481 semapv:UnspecifiedMatching OMIM:615364 AK7 skos:exactMatch hgnc.symbol:AK7 semapv:UnspecifiedMatching -OMIM:615365 AK8 skos:exactMatch ncbigene:158067 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch ncbigene:122481 semapv:UnspecifiedMatching OMIM:615365 AK8 skos:exactMatch hgnc.symbol:AK8 semapv:UnspecifiedMatching -OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:NOL11 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch ncbigene:158067 semapv:UnspecifiedMatching OMIM:615366 NOL11 skos:exactMatch ncbigene:25926 semapv:UnspecifiedMatching -OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:NTAN1 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:NOL11 semapv:UnspecifiedMatching OMIM:615367 NTAN1 skos:exactMatch ncbigene:123803 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:NTAN1 semapv:UnspecifiedMatching OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:ANKS6 semapv:UnspecifiedMatching OMIM:615370 ANKS6 skos:exactMatch ncbigene:203286 semapv:UnspecifiedMatching OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:MIR1260B semapv:UnspecifiedMatching OMIM:615372 MIR1260B skos:exactMatch ncbigene:100422991 semapv:UnspecifiedMatching -OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:IRAK1BP1 semapv:UnspecifiedMatching OMIM:615375 IRAK1BP1 skos:exactMatch ncbigene:134728 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:IRAK1BP1 semapv:UnspecifiedMatching OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:MIR650 semapv:UnspecifiedMatching OMIM:615379 MIR650 skos:exactMatch ncbigene:723778 semapv:UnspecifiedMatching -OMIM:615380 AREL1 skos:exactMatch ncbigene:9870 semapv:UnspecifiedMatching OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:AREL1 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch ncbigene:9870 semapv:UnspecifiedMatching OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:FIGNL1 semapv:UnspecifiedMatching OMIM:615383 FIGNL1 skos:exactMatch ncbigene:63979 semapv:UnspecifiedMatching OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:SPIDR semapv:UnspecifiedMatching OMIM:615384 SPIDR skos:exactMatch ncbigene:23514 semapv:UnspecifiedMatching -OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:MIR485 semapv:UnspecifiedMatching OMIM:615385 MIR485 skos:exactMatch ncbigene:574436 semapv:UnspecifiedMatching -OMIM:615388 ADAT2 skos:exactMatch ncbigene:134637 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:MIR485 semapv:UnspecifiedMatching OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:ADAT2 semapv:UnspecifiedMatching -OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch ncbigene:134637 semapv:UnspecifiedMatching OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:IDI2 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:IDI2-AS1 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch ncbigene:55853 semapv:UnspecifiedMatching OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:SFMBT2 semapv:UnspecifiedMatching OMIM:615392 SFMBT2 skos:exactMatch ncbigene:57713 semapv:UnspecifiedMatching -OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:MTERF4 semapv:UnspecifiedMatching OMIM:615393 MTERF4 skos:exactMatch ncbigene:130916 semapv:UnspecifiedMatching -OMIM:615394 NSUN4 skos:exactMatch ncbigene:387338 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:MTERF4 semapv:UnspecifiedMatching OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:NSUN4 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch ncbigene:79228 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:THOC6 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch ncbigene:387338 semapv:UnspecifiedMatching OMIM:615403 THOC6 skos:exactMatch UMLS:C1823273 semapv:UnspecifiedMatching -OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:TM4SF20 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:THOC6 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch ncbigene:79228 semapv:UnspecifiedMatching OMIM:615404 TM4SF20 skos:exactMatch ncbigene:79853 semapv:UnspecifiedMatching -OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:GNG12 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:TM4SF20 semapv:UnspecifiedMatching OMIM:615405 GNG12 skos:exactMatch ncbigene:55970 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:GNG12 semapv:UnspecifiedMatching OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:GNG12-AS1 semapv:UnspecifiedMatching OMIM:615406 GNG12AS1 skos:exactMatch ncbigene:100289178 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch ncbigene:23568 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:ARL2BP semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch UMLS:C1424778 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch UMLS:C4749131 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:ARL2BP semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch ncbigene:23568 semapv:UnspecifiedMatching OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:ODAD2 semapv:UnspecifiedMatching OMIM:615408 ODAD2 skos:exactMatch ncbigene:55130 semapv:UnspecifiedMatching -OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:SPATA33 semapv:UnspecifiedMatching OMIM:615409 SPATA33 skos:exactMatch ncbigene:124045 semapv:UnspecifiedMatching -OMIM:615410 MRAP2 skos:exactMatch ncbigene:112609 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:SPATA33 semapv:UnspecifiedMatching OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:MRAP2 semapv:UnspecifiedMatching -OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch ncbigene:112609 semapv:UnspecifiedMatching OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch UMLS:C3809431 semapv:UnspecifiedMatching +OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:BHLHA9 semapv:UnspecifiedMatching OMIM:615416 BHLHA9 skos:exactMatch ncbigene:727857 semapv:UnspecifiedMatching OMIM:615417 BET1L skos:exactMatch hgnc.symbol:BET1L semapv:UnspecifiedMatching OMIM:615417 BET1L skos:exactMatch ncbigene:51272 semapv:UnspecifiedMatching -OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:PRIMPOL semapv:UnspecifiedMatching OMIM:615421 CCDC111 skos:exactMatch ncbigene:201973 semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:PRIMPOL semapv:UnspecifiedMatching OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:TRMT10C semapv:UnspecifiedMatching OMIM:615423 TRMT10C skos:exactMatch ncbigene:54931 semapv:UnspecifiedMatching -OMIM:615427 ELMOD3 skos:exactMatch ncbigene:84173 semapv:UnspecifiedMatching OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:ELMOD3 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch ncbigene:84173 semapv:UnspecifiedMatching OMIM:615428 DDX47 skos:exactMatch UMLS:C1425702 semapv:UnspecifiedMatching OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:DDX47 semapv:UnspecifiedMatching OMIM:615428 DDX47 skos:exactMatch ncbigene:51202 semapv:UnspecifiedMatching -OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:TMEM241 semapv:UnspecifiedMatching OMIM:615430 TMEM241 skos:exactMatch ncbigene:85019 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:TMEM241 semapv:UnspecifiedMatching OMIM:615432 specific language impairment 5 skos:exactMatch UMLS:C3809483 semapv:UnspecifiedMatching OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:ERO1A semapv:UnspecifiedMatching OMIM:615435 ERO1L skos:exactMatch ncbigene:30001 semapv:UnspecifiedMatching @@ -36172,556 +36176,556 @@ OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:ERO1B semapv:UnspecifiedMatching OMIM:615437 ERO1LB skos:exactMatch ncbigene:56605 semapv:UnspecifiedMatching OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching -OMIM:615445 TRBC2 skos:exactMatch ncbigene:28638 semapv:UnspecifiedMatching OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:TRBC2 semapv:UnspecifiedMatching -OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:TRBD1 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch ncbigene:28638 semapv:UnspecifiedMatching OMIM:615447 TRBD1 skos:exactMatch ncbigene:28637 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:TRBD1 semapv:UnspecifiedMatching OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:TRBD2 semapv:UnspecifiedMatching OMIM:615448 TRBD2 skos:exactMatch ncbigene:28636 semapv:UnspecifiedMatching OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:TRGC2 semapv:UnspecifiedMatching OMIM:615450 TRGC2 skos:exactMatch ncbigene:6967 semapv:UnspecifiedMatching OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:PRNCR1 semapv:UnspecifiedMatching OMIM:615452 PRNCR1 skos:exactMatch ncbigene:101867536 semapv:UnspecifiedMatching -OMIM:615456 ELMOD1 skos:exactMatch ncbigene:55531 semapv:UnspecifiedMatching OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:ELMOD1 semapv:UnspecifiedMatching -OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:DYNC2I1 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch ncbigene:55531 semapv:UnspecifiedMatching OMIM:615462 WDR60 skos:exactMatch ncbigene:55112 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:DYNC2I1 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C1825662 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:SZT2 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch ncbigene:23334 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch ncbigene:83479 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:DDX59 semapv:UnspecifiedMatching OMIM:615464 DDX59 skos:exactMatch UMLS:C1539234 semapv:UnspecifiedMatching OMIM:615464 DDX59 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching -OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:TLNRD1 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:DDX59 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch ncbigene:83479 semapv:UnspecifiedMatching OMIM:615466 TLNRD1 skos:exactMatch ncbigene:59274 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:TLNRD1 semapv:UnspecifiedMatching OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:CPTP semapv:UnspecifiedMatching OMIM:615467 GLTPD1 skos:exactMatch ncbigene:80772 semapv:UnspecifiedMatching OMIM:615468 immunodeficiency 12 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching OMIM:615468 immunodeficiency 12 skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching -OMIM:615469 MIR574 skos:exactMatch ncbigene:693159 semapv:UnspecifiedMatching OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:MIR574 semapv:UnspecifiedMatching -OMIM:615470 CEP89 skos:exactMatch ncbigene:84902 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch ncbigene:693159 semapv:UnspecifiedMatching OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:CEP89 semapv:UnspecifiedMatching -OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:COPZ1 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch ncbigene:84902 semapv:UnspecifiedMatching OMIM:615472 COPZ1 skos:exactMatch ncbigene:22818 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:COPZ1 semapv:UnspecifiedMatching OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:615475 DHX34 skos:exactMatch UMLS:C1424505 semapv:UnspecifiedMatching OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:DHX34 semapv:UnspecifiedMatching OMIM:615475 DHX34 skos:exactMatch ncbigene:9704 semapv:UnspecifiedMatching -OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching -OMIM:615477 NYAP1 skos:exactMatch ncbigene:222950 semapv:UnspecifiedMatching +OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:NYAP1 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch ncbigene:222950 semapv:UnspecifiedMatching OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:NYAP2 semapv:UnspecifiedMatching OMIM:615478 NYAP2 skos:exactMatch ncbigene:57624 semapv:UnspecifiedMatching -OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:MYO16 semapv:UnspecifiedMatching OMIM:615479 MYO16 skos:exactMatch ncbigene:23026 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:MYO16 semapv:UnspecifiedMatching OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:BLACAT1 semapv:UnspecifiedMatching OMIM:615480 BLACAT1 skos:exactMatch ncbigene:101669762 semapv:UnspecifiedMatching OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:PTCD2 semapv:UnspecifiedMatching OMIM:615484 PTCD2 skos:exactMatch ncbigene:79810 semapv:UnspecifiedMatching -OMIM:615487 SNORA2C skos:exactMatch ncbigene:677815 semapv:UnspecifiedMatching OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:SNORA2C semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch ncbigene:677815 semapv:UnspecifiedMatching OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:KANSL2 semapv:UnspecifiedMatching OMIM:615488 KANSL2 skos:exactMatch ncbigene:54934 semapv:UnspecifiedMatching -OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch ncbigene:56683 semapv:UnspecifiedMatching +OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C1412981 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017383 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017384 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:CFAP298 semapv:UnspecifiedMatching -OMIM:615495 GMPPA skos:exactMatch ncbigene:29926 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch ncbigene:56683 semapv:UnspecifiedMatching OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:GMPPA semapv:UnspecifiedMatching -OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:AGBL1 semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch ncbigene:29926 semapv:UnspecifiedMatching OMIM:615496 AGBL1 skos:exactMatch ncbigene:123624 semapv:UnspecifiedMatching -OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:MIEF1 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:AGBL1 semapv:UnspecifiedMatching OMIM:615497 MIEF1 skos:exactMatch ncbigene:54471 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:MIEF1 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch UMLS:C1425177 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:MIEF2 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch ncbigene:125170 semapv:UnspecifiedMatching -OMIM:615499 PDP2 skos:exactMatch ncbigene:57546 semapv:UnspecifiedMatching OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:PDP2 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch ncbigene:57546 semapv:UnspecifiedMatching OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch UMLS:C3809684 semapv:UnspecifiedMatching OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:615507 NISCH skos:exactMatch hgnc.symbol:NISCH semapv:UnspecifiedMatching OMIM:615507 NISCH skos:exactMatch ncbigene:11188 semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch hgnc.symbol:NISCH semapv:UnspecifiedMatching OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:MIR675 semapv:UnspecifiedMatching OMIM:615509 MIR675 skos:exactMatch ncbigene:100033819 semapv:UnspecifiedMatching -OMIM:615514 CDK12 skos:exactMatch ncbigene:51755 semapv:UnspecifiedMatching OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:CDK12 semapv:UnspecifiedMatching -OMIM:615519 TOM1L2 skos:exactMatch ncbigene:146691 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch ncbigene:51755 semapv:UnspecifiedMatching OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:TOM1L2 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch ncbigene:146691 semapv:UnspecifiedMatching OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:MIR297 semapv:UnspecifiedMatching OMIM:615520 MIR297 skos:exactMatch ncbigene:100126354 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch UMLS:C1539880 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:STAC3 semapv:UnspecifiedMatching OMIM:615521 STAC3 skos:exactMatch ncbigene:246329 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:STAC3 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch UMLS:C1539880 semapv:UnspecifiedMatching OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:COPG1 semapv:UnspecifiedMatching OMIM:615525 COPG1 skos:exactMatch ncbigene:22820 semapv:UnspecifiedMatching OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:COPZ2 semapv:UnspecifiedMatching OMIM:615526 COPZ2 skos:exactMatch ncbigene:51226 semapv:UnspecifiedMatching -OMIM:615531 TMEM79 skos:exactMatch ncbigene:84283 semapv:UnspecifiedMatching OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:TMEM79 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch ncbigene:84283 semapv:UnspecifiedMatching OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:ERMARD semapv:UnspecifiedMatching OMIM:615532 ERMARD skos:exactMatch ncbigene:55780 semapv:UnspecifiedMatching -OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:TMEM126B semapv:UnspecifiedMatching OMIM:615533 TMEM126B skos:exactMatch ncbigene:55863 semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:TMEM126B semapv:UnspecifiedMatching OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:TIMMDC1 semapv:UnspecifiedMatching OMIM:615534 TIMMDC1 skos:exactMatch ncbigene:51300 semapv:UnspecifiedMatching OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:SYNE4 semapv:UnspecifiedMatching OMIM:615535 SYNE4 skos:exactMatch ncbigene:163183 semapv:UnspecifiedMatching -OMIM:615536 C2ORF80 skos:exactMatch ncbigene:389073 semapv:UnspecifiedMatching OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:C2orf80 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch ncbigene:389073 semapv:UnspecifiedMatching OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch UMLS:C3809853 semapv:UnspecifiedMatching OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching -OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:ARPIN semapv:UnspecifiedMatching OMIM:615543 ARPIN skos:exactMatch ncbigene:348110 semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:ARPIN semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C1859724 semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching -OMIM:615549 ARMC5 skos:exactMatch ncbigene:79798 semapv:UnspecifiedMatching OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:ARMC5 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch ncbigene:79798 semapv:UnspecifiedMatching OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch UMLS:C1427398 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:ATAT1 semapv:UnspecifiedMatching OMIM:615556 ATAT1 skos:exactMatch ncbigene:79969 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:ATAT1 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch UMLS:C1427398 semapv:UnspecifiedMatching OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch UMLS:C3714942 semapv:UnspecifiedMatching OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching OMIM:615561 complement factor B deficiency skos:exactMatch UMLS:C3809950 semapv:UnspecifiedMatching -OMIM:615562 SPAG5 skos:exactMatch ncbigene:10615 semapv:UnspecifiedMatching OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:SPAG5 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch ncbigene:10615 semapv:UnspecifiedMatching OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:NRBP2 semapv:UnspecifiedMatching OMIM:615563 NRBP2 skos:exactMatch ncbigene:340371 semapv:UnspecifiedMatching -OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:SFXN4 semapv:UnspecifiedMatching OMIM:615564 SFXN4 skos:exactMatch ncbigene:119559 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:SFXN4 semapv:UnspecifiedMatching OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:BTBD3 semapv:UnspecifiedMatching OMIM:615566 BTBD3 skos:exactMatch ncbigene:22903 semapv:UnspecifiedMatching OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:COQ8B semapv:UnspecifiedMatching OMIM:615567 COQ8B skos:exactMatch ncbigene:79934 semapv:UnspecifiedMatching -OMIM:615568 SCHLAP1 skos:exactMatch ncbigene:101669767 semapv:UnspecifiedMatching OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:SCHLAP1 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch ncbigene:101669767 semapv:UnspecifiedMatching OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:SFXN1 semapv:UnspecifiedMatching OMIM:615569 SFXN1 skos:exactMatch ncbigene:94081 semapv:UnspecifiedMatching -OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:SFXN2 semapv:UnspecifiedMatching OMIM:615570 SFXN2 skos:exactMatch ncbigene:118980 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:SFXN2 semapv:UnspecifiedMatching OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:SFXN3 semapv:UnspecifiedMatching OMIM:615571 SFXN3 skos:exactMatch ncbigene:81855 semapv:UnspecifiedMatching OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:SFXN5 semapv:UnspecifiedMatching OMIM:615572 SFXN5 skos:exactMatch ncbigene:94097 semapv:UnspecifiedMatching -OMIM:615574 asparagine synthetase deficiency skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching OMIM:615574 asparagine synthetase deficiency skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching -OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:MIR185 semapv:UnspecifiedMatching +OMIM:615574 asparagine synthetase deficiency skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching OMIM:615576 MIR185 skos:exactMatch ncbigene:406961 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:MIR185 semapv:UnspecifiedMatching OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:ATXN7L3B semapv:UnspecifiedMatching OMIM:615579 ATXN7L3B skos:exactMatch ncbigene:552889 semapv:UnspecifiedMatching -OMIM:615580 ZNF528 skos:exactMatch ncbigene:84436 semapv:UnspecifiedMatching OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:ZNF528 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch ncbigene:84436 semapv:UnspecifiedMatching OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:DUX4L9 semapv:UnspecifiedMatching OMIM:615581 DUX4L9 skos:exactMatch ncbigene:100288711 semapv:UnspecifiedMatching OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:FAM111B semapv:UnspecifiedMatching OMIM:615584 FAM111B skos:exactMatch ncbigene:374393 semapv:UnspecifiedMatching -OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:SLC38A8 semapv:UnspecifiedMatching OMIM:615585 SLC38A8 skos:exactMatch ncbigene:146167 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:SLC38A8 semapv:UnspecifiedMatching OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:CEP19 semapv:UnspecifiedMatching OMIM:615586 CEP19 skos:exactMatch ncbigene:84984 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch ncbigene:23511 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:NUP188 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching OMIM:615587 NUP188 skos:exactMatch UMLS:C1425136 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:NUP188 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch ncbigene:23511 semapv:UnspecifiedMatching OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:SMDT1 semapv:UnspecifiedMatching OMIM:615588 SMDT1 skos:exactMatch ncbigene:91689 semapv:UnspecifiedMatching -OMIM:615592 immunodeficiency 15b skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching OMIM:615592 immunodeficiency 15b skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching +OMIM:615592 immunodeficiency 15b skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching OMIM:615594 APELA skos:exactMatch hgnc.symbol:APELA semapv:UnspecifiedMatching OMIM:615594 APELA skos:exactMatch ncbigene:100506013 semapv:UnspecifiedMatching OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching -OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch UMLS:C3810080 semapv:UnspecifiedMatching +OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:ZNF582 semapv:UnspecifiedMatching OMIM:615600 ZNF582 skos:exactMatch ncbigene:147948 semapv:UnspecifiedMatching -OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:GADL1 semapv:UnspecifiedMatching OMIM:615601 GADL1 skos:exactMatch ncbigene:339896 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:GADL1 semapv:UnspecifiedMatching OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:CPPED1 semapv:UnspecifiedMatching OMIM:615603 CPPED1 skos:exactMatch ncbigene:55313 semapv:UnspecifiedMatching OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch UMLS:C3810100 semapv:UnspecifiedMatching OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:615606 BTNL8 skos:exactMatch ncbigene:79908 semapv:UnspecifiedMatching OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:BTNL8 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch ncbigene:79908 semapv:UnspecifiedMatching OMIM:615608 VSIR skos:exactMatch UMLS:C1824302 semapv:UnspecifiedMatching OMIM:615608 VSIR skos:exactMatch hgnc.symbol:VSIR semapv:UnspecifiedMatching OMIM:615608 VSIR skos:exactMatch ncbigene:64115 semapv:UnspecifiedMatching -OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:SIAH3 semapv:UnspecifiedMatching OMIM:615609 SIAH3 skos:exactMatch ncbigene:283514 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:SIAH3 semapv:UnspecifiedMatching OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:CDHR3 semapv:UnspecifiedMatching OMIM:615610 CDHR3 skos:exactMatch ncbigene:222256 semapv:UnspecifiedMatching -OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching OMIM:615611 CLPX skos:exactMatch hgnc.symbol:CLPX semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:HCCAT5 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch ncbigene:283902 semapv:UnspecifiedMatching OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:MMS22L semapv:UnspecifiedMatching OMIM:615614 MMS22L skos:exactMatch ncbigene:253714 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching -OMIM:615620 KPTN skos:exactMatch ncbigene:11133 semapv:UnspecifiedMatching OMIM:615620 KPTN skos:exactMatch hgnc.symbol:KPTN semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch ncbigene:11133 semapv:UnspecifiedMatching OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:RESF1 semapv:UnspecifiedMatching OMIM:615621 RESF1 skos:exactMatch ncbigene:55196 semapv:UnspecifiedMatching -OMIM:615622 THRIL skos:exactMatch hgnc.symbol:THRIL semapv:UnspecifiedMatching OMIM:615622 THRIL skos:exactMatch ncbigene:102659353 semapv:UnspecifiedMatching -OMIM:615623 COA7 skos:exactMatch hgnc.symbol:COA7 semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch hgnc.symbol:THRIL semapv:UnspecifiedMatching OMIM:615623 COA7 skos:exactMatch ncbigene:65260 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch hgnc.symbol:COA7 semapv:UnspecifiedMatching OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:CRNDE semapv:UnspecifiedMatching OMIM:615624 CRNDE skos:exactMatch ncbigene:643911 semapv:UnspecifiedMatching -OMIM:615626 CDIN1 skos:exactMatch ncbigene:84529 semapv:UnspecifiedMatching OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:CDIN1 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch ncbigene:84529 semapv:UnspecifiedMatching OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:BRI3BP semapv:UnspecifiedMatching OMIM:615627 BRI3BP skos:exactMatch ncbigene:140707 semapv:UnspecifiedMatching OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:BRI3 semapv:UnspecifiedMatching OMIM:615628 BRI3 skos:exactMatch ncbigene:25798 semapv:UnspecifiedMatching OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching -OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:CHCHD6 semapv:UnspecifiedMatching OMIM:615634 CHCHD6 skos:exactMatch ncbigene:84303 semapv:UnspecifiedMatching -OMIM:615635 ZFR skos:exactMatch ncbigene:51663 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:CHCHD6 semapv:UnspecifiedMatching OMIM:615635 ZFR skos:exactMatch hgnc.symbol:ZFR semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch ncbigene:51663 semapv:UnspecifiedMatching OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:NCAPD2 semapv:UnspecifiedMatching OMIM:615638 NCAPD2 skos:exactMatch ncbigene:9918 semapv:UnspecifiedMatching OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:SCARNA10 semapv:UnspecifiedMatching OMIM:615639 SCARNA10 skos:exactMatch ncbigene:692148 semapv:UnspecifiedMatching OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:SCARNA5 semapv:UnspecifiedMatching OMIM:615640 SCARNA5 skos:exactMatch ncbigene:677775 semapv:UnspecifiedMatching -OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:SCARNA6 semapv:UnspecifiedMatching OMIM:615641 SCARNA6 skos:exactMatch ncbigene:677772 semapv:UnspecifiedMatching -OMIM:615642 SCARNA12 skos:exactMatch ncbigene:677777 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:SCARNA6 semapv:UnspecifiedMatching OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:SCARNA12 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch ncbigene:677777 semapv:UnspecifiedMatching OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:SCARNA7 semapv:UnspecifiedMatching OMIM:615644 SCARNA7 skos:exactMatch ncbigene:677767 semapv:UnspecifiedMatching OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:SCARNA17 semapv:UnspecifiedMatching OMIM:615645 SCARNA17 skos:exactMatch ncbigene:677769 semapv:UnspecifiedMatching OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:SCARNA8 semapv:UnspecifiedMatching OMIM:615646 SCARNA8 skos:exactMatch ncbigene:677776 semapv:UnspecifiedMatching -OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:TEX19 semapv:UnspecifiedMatching OMIM:615647 TEX19 skos:exactMatch ncbigene:400629 semapv:UnspecifiedMatching -OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:TEX19 semapv:UnspecifiedMatching OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:NLRC3 semapv:UnspecifiedMatching -OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:RGS22 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:ACOT13 semapv:UnspecifiedMatching OMIM:615652 ACOT13 skos:exactMatch ncbigene:55856 semapv:UnspecifiedMatching -OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:THEM5 semapv:UnspecifiedMatching OMIM:615653 THEM5 skos:exactMatch ncbigene:284486 semapv:UnspecifiedMatching -OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:ZRANB3 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:THEM5 semapv:UnspecifiedMatching OMIM:615655 ZRANB3 skos:exactMatch ncbigene:84083 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:ZRANB3 semapv:UnspecifiedMatching OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:MIR142 semapv:UnspecifiedMatching OMIM:615657 MIR142 skos:exactMatch ncbigene:406934 semapv:UnspecifiedMatching -OMIM:615659 TMEM131 skos:exactMatch ncbigene:23505 semapv:UnspecifiedMatching OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:TMEM131 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch ncbigene:23505 semapv:UnspecifiedMatching OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:RPL10A semapv:UnspecifiedMatching OMIM:615660 RPL10A skos:exactMatch ncbigene:4736 semapv:UnspecifiedMatching OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:PDCD2L semapv:UnspecifiedMatching OMIM:615661 PDCD2L skos:exactMatch ncbigene:84306 semapv:UnspecifiedMatching -OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:SERPINB12 semapv:UnspecifiedMatching OMIM:615662 SERPINB12 skos:exactMatch ncbigene:89777 semapv:UnspecifiedMatching -OMIM:615663 warburg micro syndrome 4 skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:SERPINB12 semapv:UnspecifiedMatching OMIM:615663 warburg micro syndrome 4 skos:exactMatch UMLS:C3810265 semapv:UnspecifiedMatching -OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching +OMIM:615663 warburg micro syndrome 4 skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:TESPA1 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching OMIM:615666 KIAA1456 skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching -OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching OMIM:615667 ERCC6L2 skos:exactMatch ncbigene:375748 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching OMIM:615669 EMB skos:exactMatch hgnc.symbol:EMB semapv:UnspecifiedMatching OMIM:615669 EMB skos:exactMatch ncbigene:133418 semapv:UnspecifiedMatching -OMIM:615671 SETD3 skos:exactMatch ncbigene:84193 semapv:UnspecifiedMatching OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:SETD3 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch ncbigene:84193 semapv:UnspecifiedMatching OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:MIR497 semapv:UnspecifiedMatching OMIM:615672 MIR497 skos:exactMatch ncbigene:574456 semapv:UnspecifiedMatching -OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching -OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching +OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching OMIM:615675 MIR301A skos:exactMatch ncbigene:407027 semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:TDRG1 semapv:UnspecifiedMatching OMIM:615676 TDRG1 skos:exactMatch ncbigene:732253 semapv:UnspecifiedMatching -OMIM:615677 SERPINA9 skos:exactMatch ncbigene:327657 semapv:UnspecifiedMatching OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:SERPINA9 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch ncbigene:327657 semapv:UnspecifiedMatching OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:SH3BGRL2 semapv:UnspecifiedMatching OMIM:615678 SH3BGRL2 skos:exactMatch ncbigene:83699 semapv:UnspecifiedMatching -OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:SH3BGRL3 semapv:UnspecifiedMatching OMIM:615679 SH3BGRL3 skos:exactMatch ncbigene:83442 semapv:UnspecifiedMatching -OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:CARD16 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:SH3BGRL3 semapv:UnspecifiedMatching OMIM:615680 CARD16 skos:exactMatch ncbigene:114769 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:CARD16 semapv:UnspecifiedMatching OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:SERPINB11 semapv:UnspecifiedMatching OMIM:615682 SERPINB11 skos:exactMatch ncbigene:89778 semapv:UnspecifiedMatching -OMIM:615684 HFM1 skos:exactMatch ncbigene:164045 semapv:UnspecifiedMatching OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:HFM1 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch ncbigene:164045 semapv:UnspecifiedMatching OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:BECN2 semapv:UnspecifiedMatching OMIM:615687 BECN2 skos:exactMatch ncbigene:441925 semapv:UnspecifiedMatching OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:AMIGO1 semapv:UnspecifiedMatching OMIM:615689 AMIGO1 skos:exactMatch ncbigene:57463 semapv:UnspecifiedMatching -OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:AMIGO2 semapv:UnspecifiedMatching OMIM:615690 AMIGO2 skos:exactMatch ncbigene:347902 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:AMIGO2 semapv:UnspecifiedMatching OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:AMIGO3 semapv:UnspecifiedMatching OMIM:615691 AMIGO3 skos:exactMatch ncbigene:386724 semapv:UnspecifiedMatching -OMIM:615692 CHID1 skos:exactMatch ncbigene:66005 semapv:UnspecifiedMatching OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:CHID1 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch ncbigene:66005 semapv:UnspecifiedMatching OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:COLCA1 semapv:UnspecifiedMatching OMIM:615693 COLCA1 skos:exactMatch ncbigene:399948 semapv:UnspecifiedMatching -OMIM:615694 COLCA2 skos:exactMatch hgnc.symbol:POU2AF3 semapv:UnspecifiedMatching OMIM:615694 COLCA2 skos:exactMatch ncbigene:120376 semapv:UnspecifiedMatching -OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatching +OMIM:615694 COLCA2 skos:exactMatch hgnc.symbol:POU2AF3 semapv:UnspecifiedMatching OMIM:615695 HEXIM2 skos:exactMatch ncbigene:124790 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:PLD3 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch ncbigene:23646 semapv:UnspecifiedMatching -OMIM:615699 ZFTA skos:exactMatch ncbigene:65998 semapv:UnspecifiedMatching OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:ZFTA semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch ncbigene:65998 semapv:UnspecifiedMatching OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:PYDC1 semapv:UnspecifiedMatching OMIM:615700 PYDC1 skos:exactMatch ncbigene:260434 semapv:UnspecifiedMatching OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:PYDC2 semapv:UnspecifiedMatching OMIM:615701 PYDC2 skos:exactMatch ncbigene:152138 semapv:UnspecifiedMatching -OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:OR5AN1 semapv:UnspecifiedMatching OMIM:615702 OR5AN1 skos:exactMatch ncbigene:390195 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:OR5AN1 semapv:UnspecifiedMatching OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching OMIM:615707 immunodeficiency 20 skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching OMIM:615707 immunodeficiency 20 skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:ZNF451 semapv:UnspecifiedMatching OMIM:615708 ZNF451 skos:exactMatch ncbigene:26036 semapv:UnspecifiedMatching -OMIM:615710 mitchell-riley syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching OMIM:615710 mitchell-riley syndrome skos:exactMatch UMLS:C2748662 semapv:UnspecifiedMatching -OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:OTULIN semapv:UnspecifiedMatching +OMIM:615710 mitchell-riley syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching OMIM:615712 OTULIN skos:exactMatch ncbigene:90268 semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:OTULIN semapv:UnspecifiedMatching OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:ZMYND8 semapv:UnspecifiedMatching OMIM:615713 ZMYND8 skos:exactMatch ncbigene:23613 semapv:UnspecifiedMatching OMIM:615714 POLR1HASP skos:exactMatch UMLS:C1422276 semapv:UnspecifiedMatching OMIM:615714 POLR1HASP skos:exactMatch hgnc.symbol:POLR1HASP semapv:UnspecifiedMatching OMIM:615714 POLR1HASP skos:exactMatch ncbigene:80862 semapv:UnspecifiedMatching -OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching +OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:BPIFB3 semapv:UnspecifiedMatching OMIM:615717 BPIFB3 skos:exactMatch ncbigene:359710 semapv:UnspecifiedMatching -OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:BPIFB4 semapv:UnspecifiedMatching OMIM:615718 BPIFB4 skos:exactMatch ncbigene:149954 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:BPIFB4 semapv:UnspecifiedMatching OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:TUNAR semapv:UnspecifiedMatching OMIM:615719 TUNAR skos:exactMatch ncbigene:100507043 semapv:UnspecifiedMatching OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:SLC7A14 semapv:UnspecifiedMatching OMIM:615720 SLC7A14 skos:exactMatch ncbigene:57709 semapv:UnspecifiedMatching -OMIM:615726 pachyonychia congenita 3 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:615726 pachyonychia congenita 3 skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching +OMIM:615726 pachyonychia congenita 3 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:KIR2DL5B semapv:UnspecifiedMatching OMIM:615727 KIR2DL5B skos:exactMatch ncbigene:553128 semapv:UnspecifiedMatching -OMIM:615728 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching OMIM:615728 pachyonychia congenita 4 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +OMIM:615728 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:SBNO2 semapv:UnspecifiedMatching OMIM:615729 SBNO2 skos:exactMatch ncbigene:22904 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch UMLS:C1426078 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:DOCK7 semapv:UnspecifiedMatching OMIM:615730 DOCK7 skos:exactMatch ncbigene:85440 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch UMLS:C1426078 semapv:UnspecifiedMatching OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:NSUN5 semapv:UnspecifiedMatching OMIM:615732 NSUN5 skos:exactMatch ncbigene:55695 semapv:UnspecifiedMatching -OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:BUD23 semapv:UnspecifiedMatching OMIM:615733 BUD23 skos:exactMatch ncbigene:114049 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:BUD23 semapv:UnspecifiedMatching OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:WDR47 semapv:UnspecifiedMatching OMIM:615734 WDR47 skos:exactMatch ncbigene:22911 semapv:UnspecifiedMatching -OMIM:615736 ECSCR skos:exactMatch ncbigene:641700 semapv:UnspecifiedMatching OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:ECSCR semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch ncbigene:390243 semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:IZUMO1R semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch ncbigene:641700 semapv:UnspecifiedMatching OMIM:615737 IZUMO1R skos:exactMatch UMLS:C2681534 semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:IZUMO1R semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch ncbigene:390243 semapv:UnspecifiedMatching OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:VPS51 semapv:UnspecifiedMatching OMIM:615738 VPS51 skos:exactMatch ncbigene:738 semapv:UnspecifiedMatching -OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:POU5F1B semapv:UnspecifiedMatching OMIM:615739 POU5F1B skos:exactMatch ncbigene:5462 semapv:UnspecifiedMatching -OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:TBC1D5 semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:POU5F1B semapv:UnspecifiedMatching OMIM:615740 TBC1D5 skos:exactMatch ncbigene:9779 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch ncbigene:9812 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:DELE1 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:TBC1D5 semapv:UnspecifiedMatching OMIM:615741 DELE1 skos:exactMatch UMLS:C1537445 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:DELE1 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch ncbigene:9812 semapv:UnspecifiedMatching OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:RGP1 semapv:UnspecifiedMatching OMIM:615742 RGP1 skos:exactMatch ncbigene:9827 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch UMLS:C1822689 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch UMLS:C3810406 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:SETD5 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch ncbigene:55209 semapv:UnspecifiedMatching -OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching -OMIM:615746 ZXDC skos:exactMatch ncbigene:79364 semapv:UnspecifiedMatching +OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:ZXDC semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch ncbigene:79364 semapv:UnspecifiedMatching OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:CEACAM8 semapv:UnspecifiedMatching OMIM:615747 CEACAM8 skos:exactMatch ncbigene:1088 semapv:UnspecifiedMatching OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:WASHC4 semapv:UnspecifiedMatching OMIM:615748 WASHC4 skos:exactMatch ncbigene:23325 semapv:UnspecifiedMatching OMIM:615753 POM121 skos:exactMatch hgnc.symbol:POM121 semapv:UnspecifiedMatching OMIM:615753 POM121 skos:exactMatch ncbigene:9883 semapv:UnspecifiedMatching -OMIM:615754 POM121C skos:exactMatch hgnc.symbol:POM121C semapv:UnspecifiedMatching OMIM:615754 POM121C skos:exactMatch ncbigene:100101267 semapv:UnspecifiedMatching -OMIM:615755 FOXR1 skos:exactMatch ncbigene:283150 semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch hgnc.symbol:POM121C semapv:UnspecifiedMatching OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:FOXR1 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch ncbigene:283150 semapv:UnspecifiedMatching OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:SECISBP2L semapv:UnspecifiedMatching OMIM:615756 SECISBP2L skos:exactMatch ncbigene:9728 semapv:UnspecifiedMatching OMIM:615757 KIZ skos:exactMatch hgnc.symbol:KIZ semapv:UnspecifiedMatching OMIM:615757 KIZ skos:exactMatch ncbigene:55857 semapv:UnspecifiedMatching OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:KIDINS220 semapv:UnspecifiedMatching OMIM:615759 KIDINS220 skos:exactMatch ncbigene:57498 semapv:UnspecifiedMatching -OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:GRXCR2 semapv:UnspecifiedMatching OMIM:615762 GRXCR2 skos:exactMatch ncbigene:643226 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:GRXCR2 semapv:UnspecifiedMatching OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:LSINCT5 semapv:UnspecifiedMatching OMIM:615764 LSINCT5 skos:exactMatch ncbigene:101234261 semapv:UnspecifiedMatching -OMIM:615765 SLC16A11 skos:exactMatch ncbigene:162515 semapv:UnspecifiedMatching OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:SLC16A11 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch ncbigene:162515 semapv:UnspecifiedMatching OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:MTCL1 semapv:UnspecifiedMatching OMIM:615766 MTCL1 skos:exactMatch ncbigene:23255 semapv:UnspecifiedMatching OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch UMLS:C4014261 semapv:UnspecifiedMatching OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching -OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:FAM169A semapv:UnspecifiedMatching OMIM:615769 FAM169A skos:exactMatch ncbigene:26049 semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:FAM169A semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch ncbigene:645638 semapv:UnspecifiedMatching OMIM:615772 WFDC21P skos:exactMatch UMLS:C3891272 semapv:UnspecifiedMatching OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:WFDC21P semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch ncbigene:645638 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch ncbigene:57001 semapv:UnspecifiedMatching OMIM:615773 SDHAF3 skos:exactMatch UMLS:C1427742 semapv:UnspecifiedMatching OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:SDHAF3 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch ncbigene:57001 semapv:UnspecifiedMatching OMIM:615774 oocyte maturation defect 1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching OMIM:615774 oocyte maturation defect 1 skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:SYCE3 semapv:UnspecifiedMatching OMIM:615775 SYCE3 skos:exactMatch ncbigene:644186 semapv:UnspecifiedMatching -OMIM:615776 CROCC skos:exactMatch hgnc.symbol:CROCC semapv:UnspecifiedMatching OMIM:615776 CROCC skos:exactMatch ncbigene:9696 semapv:UnspecifiedMatching -OMIM:615777 desbuquois dysplasia 2 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch hgnc.symbol:CROCC semapv:UnspecifiedMatching OMIM:615777 desbuquois dysplasia 2 skos:exactMatch UMLS:C4014294 semapv:UnspecifiedMatching -OMIM:615778 CLDN15 skos:exactMatch ncbigene:24146 semapv:UnspecifiedMatching +OMIM:615777 desbuquois dysplasia 2 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:CLDN15 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch ncbigene:24146 semapv:UnspecifiedMatching OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch UMLS:C1425929 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:AP1S3 semapv:UnspecifiedMatching OMIM:615781 AP1S3 skos:exactMatch ncbigene:130340 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:AP1S3 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch UMLS:C1425929 semapv:UnspecifiedMatching OMIM:615782 CIART skos:exactMatch hgnc.symbol:CIART semapv:UnspecifiedMatching OMIM:615782 CIART skos:exactMatch ncbigene:148523 semapv:UnspecifiedMatching OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:NAT16 semapv:UnspecifiedMatching OMIM:615783 NAT16 skos:exactMatch ncbigene:375607 semapv:UnspecifiedMatching OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:GPX7 semapv:UnspecifiedMatching OMIM:615784 GPX7 skos:exactMatch ncbigene:2882 semapv:UnspecifiedMatching -OMIM:615785 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching OMIM:615785 white sponge nevus 2 skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching -OMIM:615786 NACC2 skos:exactMatch ncbigene:138151 semapv:UnspecifiedMatching +OMIM:615785 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:NACC2 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch ncbigene:133686 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:NADK2 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch ncbigene:138151 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C3471268 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C5394591 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:NADK2 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch ncbigene:133686 semapv:UnspecifiedMatching OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:N4BP2L2 semapv:UnspecifiedMatching OMIM:615788 N4BP2L2 skos:exactMatch ncbigene:10443 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch ncbigene:27245 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:AHDC1 semapv:UnspecifiedMatching OMIM:615790 AHDC1 skos:exactMatch UMLS:C1826617 semapv:UnspecifiedMatching OMIM:615790 AHDC1 skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:AHDC1 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch ncbigene:27245 semapv:UnspecifiedMatching -OMIM:615791 NUDT18 skos:exactMatch ncbigene:79873 semapv:UnspecifiedMatching OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:NUDT18 semapv:UnspecifiedMatching -OMIM:615792 NUDT15 skos:exactMatch ncbigene:55270 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch ncbigene:79873 semapv:UnspecifiedMatching OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:NUDT15 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch ncbigene:55270 semapv:UnspecifiedMatching OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:ISM1 semapv:UnspecifiedMatching OMIM:615793 ISM1 skos:exactMatch ncbigene:140862 semapv:UnspecifiedMatching -OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:FNDC3A semapv:UnspecifiedMatching OMIM:615794 FNDC3A skos:exactMatch ncbigene:22862 semapv:UnspecifiedMatching -OMIM:615795 FSIP1 skos:exactMatch ncbigene:161835 semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:FNDC3A semapv:UnspecifiedMatching OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:FSIP1 semapv:UnspecifiedMatching -OMIM:615796 FSIP2 skos:exactMatch ncbigene:401024 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch ncbigene:161835 semapv:UnspecifiedMatching OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:FSIP2 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch ncbigene:401024 semapv:UnspecifiedMatching OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:HCG9 semapv:UnspecifiedMatching OMIM:615797 HCG9 skos:exactMatch ncbigene:10255 semapv:UnspecifiedMatching -OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:CLDN6 semapv:UnspecifiedMatching OMIM:615798 CLDN6 skos:exactMatch ncbigene:9074 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:CLDN6 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch ncbigene:9080 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:CLDN9 semapv:UnspecifiedMatching OMIM:615799 CLDN9 skos:exactMatch UMLS:C1413479 semapv:UnspecifiedMatching OMIM:615799 CLDN9 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:CLDN9 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch ncbigene:9080 semapv:UnspecifiedMatching -OMIM:615800 FSCN3 skos:exactMatch ncbigene:29999 semapv:UnspecifiedMatching OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:FSCN3 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch ncbigene:29999 semapv:UnspecifiedMatching OMIM:615804 URAD skos:exactMatch hgnc.symbol:URAD semapv:UnspecifiedMatching OMIM:615804 URAD skos:exactMatch ncbigene:646625 semapv:UnspecifiedMatching OMIM:615805 URAHP skos:exactMatch hgnc.symbol:URAHP semapv:UnspecifiedMatching OMIM:615805 URAHP skos:exactMatch ncbigene:100130015 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch UMLS:C1427907 semapv:UnspecifiedMatching OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:SLC15A4 semapv:UnspecifiedMatching OMIM:615806 SLC15A4 skos:exactMatch ncbigene:121260 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch UMLS:C1427907 semapv:UnspecifiedMatching OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:TMA7 semapv:UnspecifiedMatching OMIM:615808 TMA7 skos:exactMatch ncbigene:51372 semapv:UnspecifiedMatching -OMIM:615810 C11ORF54 skos:exactMatch ncbigene:28970 semapv:UnspecifiedMatching OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:C11orf54 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch ncbigene:28970 semapv:UnspecifiedMatching OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:PPIL3 semapv:UnspecifiedMatching OMIM:615811 PPIL3 skos:exactMatch ncbigene:53938 semapv:UnspecifiedMatching -OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:FAM193B semapv:UnspecifiedMatching OMIM:615813 FAM193B skos:exactMatch ncbigene:54540 semapv:UnspecifiedMatching -OMIM:615814 STYX skos:exactMatch hgnc.symbol:STYX semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:FAM193B semapv:UnspecifiedMatching OMIM:615814 STYX skos:exactMatch ncbigene:6815 semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch hgnc.symbol:STYX semapv:UnspecifiedMatching OMIM:615815 SENCR skos:exactMatch hgnc.symbol:SENCR semapv:UnspecifiedMatching OMIM:615815 SENCR skos:exactMatch ncbigene:100507392 semapv:UnspecifiedMatching -OMIM:615816 immunodeficiency 23 skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching OMIM:615816 immunodeficiency 23 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching +OMIM:615816 immunodeficiency 23 skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:RRP8 semapv:UnspecifiedMatching OMIM:615818 RRP8 skos:exactMatch ncbigene:23378 semapv:UnspecifiedMatching OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:SULT1A4 semapv:UnspecifiedMatching OMIM:615819 SULT1A4 skos:exactMatch ncbigene:445329 semapv:UnspecifiedMatching -OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:DCAF8 semapv:UnspecifiedMatching OMIM:615820 DCAF8 skos:exactMatch ncbigene:50717 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:DCAF8 semapv:UnspecifiedMatching OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch UMLS:C4014393 semapv:UnspecifiedMatching OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching -OMIM:615822 SLX1A skos:exactMatch ncbigene:548593 semapv:UnspecifiedMatching OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:SLX1A semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch ncbigene:548593 semapv:UnspecifiedMatching OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:SLX1B semapv:UnspecifiedMatching OMIM:615823 SLX1B skos:exactMatch ncbigene:79008 semapv:UnspecifiedMatching -OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:SUSD2 semapv:UnspecifiedMatching OMIM:615825 SUSD2 skos:exactMatch ncbigene:56241 semapv:UnspecifiedMatching -OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:STPG1 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:SUSD2 semapv:UnspecifiedMatching OMIM:615826 STPG1 skos:exactMatch ncbigene:90529 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:STPG1 semapv:UnspecifiedMatching OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:SUSD4 semapv:UnspecifiedMatching OMIM:615827 SUSD4 skos:exactMatch ncbigene:55061 semapv:UnspecifiedMatching -OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching +OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C5436345 semapv:UnspecifiedMatching OMIM:615829 xia-gibbs syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching -OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching +OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:LYRM7 semapv:UnspecifiedMatching OMIM:615831 LYRM7 skos:exactMatch ncbigene:90624 semapv:UnspecifiedMatching OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:UBE2QL1 semapv:UnspecifiedMatching OMIM:615832 UBE2QL1 skos:exactMatch ncbigene:134111 semapv:UnspecifiedMatching -OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching +OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615836 STK38L skos:exactMatch hgnc.symbol:STK38L semapv:UnspecifiedMatching OMIM:615836 STK38L skos:exactMatch ncbigene:23012 semapv:UnspecifiedMatching -OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:DECR2 semapv:UnspecifiedMatching OMIM:615839 DECR2 skos:exactMatch ncbigene:26063 semapv:UnspecifiedMatching -OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:DCTPP1 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:DECR2 semapv:UnspecifiedMatching OMIM:615840 DCTPP1 skos:exactMatch ncbigene:79077 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch ncbigene:8560 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:DEGS1 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:DCTPP1 semapv:UnspecifiedMatching OMIM:615843 DEGS1 skos:exactMatch UMLS:C1539265 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:DEGS1 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch ncbigene:8560 semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch UMLS:C1824882 semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch hgnc.symbol:TKFC semapv:UnspecifiedMatching @@ -36736,8 +36740,8 @@ OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:VPS53 semapv:UnspecifiedMatching OMIM:615850 VPS53 skos:exactMatch ncbigene:55275 semapv:UnspecifiedMatching OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:RAB6B semapv:UnspecifiedMatching OMIM:615852 RAB6B skos:exactMatch ncbigene:51560 semapv:UnspecifiedMatching -OMIM:615853 PAOX skos:exactMatch hgnc.symbol:PAOX semapv:UnspecifiedMatching OMIM:615853 PAOX skos:exactMatch ncbigene:196743 semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch hgnc.symbol:PAOX semapv:UnspecifiedMatching OMIM:615854 SMOX skos:exactMatch ncbigene:54498 semapv:UnspecifiedMatching OMIM:615854 SMOX skos:exactMatch hgnc.symbol:SMOX semapv:UnspecifiedMatching OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:TMTC1 semapv:UnspecifiedMatching @@ -36748,228 +36752,228 @@ OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:OGFOD1 semapv:UnspecifiedMatching OMIM:615857 OGFOD1 skos:exactMatch ncbigene:55239 semapv:UnspecifiedMatching OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:RSBN1 semapv:UnspecifiedMatching OMIM:615858 RSBN1 skos:exactMatch ncbigene:54665 semapv:UnspecifiedMatching -OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching -OMIM:615864 CEP97 skos:exactMatch ncbigene:79598 semapv:UnspecifiedMatching +OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:CEP97 semapv:UnspecifiedMatching -OMIM:615865 NEURL4 skos:exactMatch ncbigene:84461 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch ncbigene:79598 semapv:UnspecifiedMatching OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:NEURL4 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch ncbigene:84461 semapv:UnspecifiedMatching OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:TBC1D32 semapv:UnspecifiedMatching OMIM:615867 TBC1D32 skos:exactMatch ncbigene:221322 semapv:UnspecifiedMatching -OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:SPINK6 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:TBC1D32 semapv:UnspecifiedMatching OMIM:615868 SPINK6 skos:exactMatch ncbigene:404203 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:SPINK6 semapv:UnspecifiedMatching OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:TNFAIP8L1 semapv:UnspecifiedMatching OMIM:615869 TNFAIP8L1 skos:exactMatch ncbigene:126282 semapv:UnspecifiedMatching -OMIM:615870 IFT27 skos:exactMatch ncbigene:11020 semapv:UnspecifiedMatching OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:IFT27 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch ncbigene:11020 semapv:UnspecifiedMatching OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:RSL1D1 semapv:UnspecifiedMatching OMIM:615874 RSL1D1 skos:exactMatch ncbigene:26156 semapv:UnspecifiedMatching -OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:RWDD3 semapv:UnspecifiedMatching OMIM:615875 RWDD3 skos:exactMatch ncbigene:25950 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:RWDD3 semapv:UnspecifiedMatching OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:RSPH3 semapv:UnspecifiedMatching OMIM:615876 RSPH3 skos:exactMatch ncbigene:83861 semapv:UnspecifiedMatching -OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching +OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:ARHGAP39 semapv:UnspecifiedMatching OMIM:615880 ARHGAP39 skos:exactMatch ncbigene:80728 semapv:UnspecifiedMatching OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:RABGAP1 semapv:UnspecifiedMatching OMIM:615882 RABGAP1 skos:exactMatch ncbigene:23637 semapv:UnspecifiedMatching -OMIM:615884 APMAP skos:exactMatch hgnc.symbol:APMAP semapv:UnspecifiedMatching OMIM:615884 APMAP skos:exactMatch ncbigene:57136 semapv:UnspecifiedMatching -OMIM:615886 FAM83G skos:exactMatch ncbigene:644815 semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch hgnc.symbol:APMAP semapv:UnspecifiedMatching OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:FAM83G semapv:UnspecifiedMatching -OMIM:615890 DYNC1LI1 skos:exactMatch ncbigene:51143 semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch ncbigene:644815 semapv:UnspecifiedMatching OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:DYNC1LI1 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch ncbigene:51143 semapv:UnspecifiedMatching OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:ZBTB8OS semapv:UnspecifiedMatching OMIM:615891 ZBTB8OS skos:exactMatch ncbigene:339487 semapv:UnspecifiedMatching -OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching OMIM:615893 NEURL1B skos:exactMatch ncbigene:54492 semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching OMIM:615894 ZNF407 skos:exactMatch ncbigene:55628 semapv:UnspecifiedMatching OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:ZNF407 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch UMLS:C2240250 semapv:UnspecifiedMatching OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:NDUFAF7 semapv:UnspecifiedMatching OMIM:615898 NDUFAF7 skos:exactMatch ncbigene:55471 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch UMLS:C2240250 semapv:UnspecifiedMatching -OMIM:615899 OLFML2A skos:exactMatch ncbigene:169611 semapv:UnspecifiedMatching OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:OLFML2A semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch ncbigene:169611 semapv:UnspecifiedMatching OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:AGBL5 semapv:UnspecifiedMatching OMIM:615900 AGBL5 skos:exactMatch ncbigene:60509 semapv:UnspecifiedMatching -OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:NCCRP1 semapv:UnspecifiedMatching OMIM:615901 NCCRP1 skos:exactMatch ncbigene:342897 semapv:UnspecifiedMatching -OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:PPP2R3C semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:NCCRP1 semapv:UnspecifiedMatching OMIM:615902 PPP2R3C skos:exactMatch ncbigene:55012 semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:PPP2R3C semapv:UnspecifiedMatching OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:CHCHD10 semapv:UnspecifiedMatching OMIM:615903 CHCHD10 skos:exactMatch ncbigene:400916 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch ncbigene:137902 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:PXDNL semapv:UnspecifiedMatching OMIM:615904 PXDNL skos:exactMatch UMLS:C1826746 semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:PXDNL semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch ncbigene:137902 semapv:UnspecifiedMatching OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch UMLS:C1426846 semapv:UnspecifiedMatching OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:OBI1 semapv:UnspecifiedMatching OMIM:615906 OBI1 skos:exactMatch ncbigene:79596 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch UMLS:C1426846 semapv:UnspecifiedMatching OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:MIR520C semapv:UnspecifiedMatching OMIM:615908 MIR520C skos:exactMatch ncbigene:574476 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch ncbigene:55739 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch hgnc.symbol:NAXD semapv:UnspecifiedMatching OMIM:615910 NAXD skos:exactMatch UMLS:C2681323 semapv:UnspecifiedMatching OMIM:615910 NAXD skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching -OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:GSTCD semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch hgnc.symbol:NAXD semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch ncbigene:55739 semapv:UnspecifiedMatching OMIM:615912 GSTCD skos:exactMatch ncbigene:79807 semapv:UnspecifiedMatching -OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:PM20D2 semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:GSTCD semapv:UnspecifiedMatching OMIM:615913 PM20D2 skos:exactMatch ncbigene:135293 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:PM20D2 semapv:UnspecifiedMatching OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:CDKN2AIP semapv:UnspecifiedMatching OMIM:615914 CDKN2AIP skos:exactMatch ncbigene:55602 semapv:UnspecifiedMatching -OMIM:615915 ZPLD1 skos:exactMatch ncbigene:131368 semapv:UnspecifiedMatching OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:ZPLD1 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch ncbigene:131368 semapv:UnspecifiedMatching OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:PRR11 semapv:UnspecifiedMatching OMIM:615920 PRR11 skos:exactMatch ncbigene:55771 semapv:UnspecifiedMatching -OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:PERM1 semapv:UnspecifiedMatching OMIM:615921 PERM1 skos:exactMatch ncbigene:84808 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:PERM1 semapv:UnspecifiedMatching OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:RFLNA semapv:UnspecifiedMatching OMIM:615927 RFLNA skos:exactMatch ncbigene:144347 semapv:UnspecifiedMatching -OMIM:615928 RFLNB skos:exactMatch ncbigene:359845 semapv:UnspecifiedMatching OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:RFLNB semapv:UnspecifiedMatching -OMIM:615929 ANKRD17 skos:exactMatch ncbigene:26057 semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch ncbigene:359845 semapv:UnspecifiedMatching OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:ANKRD17 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch ncbigene:26057 semapv:UnspecifiedMatching OMIM:615930 CAHM skos:exactMatch hgnc.symbol:CAHM semapv:UnspecifiedMatching OMIM:615930 CAHM skos:exactMatch ncbigene:100526820 semapv:UnspecifiedMatching -OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:PRR16 semapv:UnspecifiedMatching OMIM:615931 PRR16 skos:exactMatch ncbigene:51334 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:PRR16 semapv:UnspecifiedMatching OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:KCTD20 semapv:UnspecifiedMatching OMIM:615932 KCTD20 skos:exactMatch ncbigene:222658 semapv:UnspecifiedMatching OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:BTBD10 semapv:UnspecifiedMatching OMIM:615933 BTBD10 skos:exactMatch ncbigene:84280 semapv:UnspecifiedMatching -OMIM:615936 ARHGAP42 skos:exactMatch ncbigene:143872 semapv:UnspecifiedMatching OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:ARHGAP42 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch ncbigene:143872 semapv:UnspecifiedMatching OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch UMLS:C4014738 semapv:UnspecifiedMatching OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching -OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:HACD2 semapv:UnspecifiedMatching OMIM:615939 PTPLB skos:exactMatch ncbigene:201562 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:HACD2 semapv:UnspecifiedMatching OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:HACD3 semapv:UnspecifiedMatching OMIM:615940 PTPLAD1 skos:exactMatch ncbigene:51495 semapv:UnspecifiedMatching -OMIM:615941 PTPLAD2 skos:exactMatch ncbigene:401494 semapv:UnspecifiedMatching OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:HACD4 semapv:UnspecifiedMatching -OMIM:615943 MAGI3 skos:exactMatch ncbigene:260425 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch ncbigene:401494 semapv:UnspecifiedMatching OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:MAGI3 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch ncbigene:260425 semapv:UnspecifiedMatching OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:C2CD3 semapv:UnspecifiedMatching OMIM:615944 C2CD3 skos:exactMatch ncbigene:26005 semapv:UnspecifiedMatching -OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching +OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:TMEM98 semapv:UnspecifiedMatching OMIM:615949 TMEM98 skos:exactMatch ncbigene:26022 semapv:UnspecifiedMatching OMIM:615950 SPEG skos:exactMatch hgnc.symbol:SPEG semapv:UnspecifiedMatching OMIM:615950 SPEG skos:exactMatch ncbigene:10290 semapv:UnspecifiedMatching -OMIM:615951 ZSWIM6 skos:exactMatch ncbigene:57688 semapv:UnspecifiedMatching OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:ZSWIM6 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch ncbigene:57688 semapv:UnspecifiedMatching OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:CCDC183 semapv:UnspecifiedMatching OMIM:615955 CCDC183 skos:exactMatch ncbigene:84960 semapv:UnspecifiedMatching -OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:ODAD3 semapv:UnspecifiedMatching OMIM:615956 ODAD3 skos:exactMatch ncbigene:115948 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:ODAD3 semapv:UnspecifiedMatching OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:SLX4IP semapv:UnspecifiedMatching OMIM:615958 SLX4IP skos:exactMatch ncbigene:128710 semapv:UnspecifiedMatching OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:MIR99AHG semapv:UnspecifiedMatching OMIM:615964 MIR99AHG skos:exactMatch ncbigene:388815 semapv:UnspecifiedMatching -OMIM:615965 MIR100HG skos:exactMatch ncbigene:399959 semapv:UnspecifiedMatching OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:MIR100HG semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch ncbigene:399959 semapv:UnspecifiedMatching OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch UMLS:C4014833 semapv:UnspecifiedMatching OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:CYP2W1 semapv:UnspecifiedMatching OMIM:615967 CYP2W1 skos:exactMatch ncbigene:54905 semapv:UnspecifiedMatching -OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:MYCNUT semapv:UnspecifiedMatching OMIM:615968 MYCNUT skos:exactMatch ncbigene:103752554 semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:MYCNUT semapv:UnspecifiedMatching OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:TMEM129 semapv:UnspecifiedMatching OMIM:615975 TMEM129 skos:exactMatch ncbigene:92305 semapv:UnspecifiedMatching -OMIM:615976 FOXCUT skos:exactMatch ncbigene:101927703 semapv:UnspecifiedMatching OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:FOXCUT semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch ncbigene:101927703 semapv:UnspecifiedMatching OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:MIR339 semapv:UnspecifiedMatching OMIM:615977 MIR339 skos:exactMatch ncbigene:442907 semapv:UnspecifiedMatching OMIM:615978 immunodeficiency 27b skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching OMIM:615978 immunodeficiency 27b skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching -OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching +OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:DEFB119 semapv:UnspecifiedMatching OMIM:615997 DEFB119 skos:exactMatch ncbigene:245932 semapv:UnspecifiedMatching -OMIM:615998 RNF10 skos:exactMatch ncbigene:9921 semapv:UnspecifiedMatching OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:RNF10 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch ncbigene:9921 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch UMLS:C3471496 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:COA8 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch ncbigene:84334 semapv:UnspecifiedMatching -OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:COPS4 semapv:UnspecifiedMatching OMIM:616008 COPS4 skos:exactMatch ncbigene:51138 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:COPS4 semapv:UnspecifiedMatching OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:COPS7A semapv:UnspecifiedMatching OMIM:616009 COPS7A skos:exactMatch ncbigene:50813 semapv:UnspecifiedMatching -OMIM:616010 COPS7B skos:exactMatch ncbigene:64708 semapv:UnspecifiedMatching OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:COPS7B semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch ncbigene:64708 semapv:UnspecifiedMatching OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:COPS8 semapv:UnspecifiedMatching OMIM:616011 COPS8 skos:exactMatch ncbigene:10920 semapv:UnspecifiedMatching OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:JAGN1 semapv:UnspecifiedMatching OMIM:616012 JAGN1 skos:exactMatch ncbigene:84522 semapv:UnspecifiedMatching -OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:TRMT10A semapv:UnspecifiedMatching OMIM:616013 TRMT10A skos:exactMatch ncbigene:93587 semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:TRMT10A semapv:UnspecifiedMatching OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:RNF25 semapv:UnspecifiedMatching OMIM:616014 RNF25 skos:exactMatch ncbigene:64320 semapv:UnspecifiedMatching OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:RNF180 semapv:UnspecifiedMatching OMIM:616015 RNF180 skos:exactMatch ncbigene:285671 semapv:UnspecifiedMatching -OMIM:616016 PPM1H skos:exactMatch ncbigene:57460 semapv:UnspecifiedMatching OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:PPM1H semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch ncbigene:57460 semapv:UnspecifiedMatching OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:TRIM69 semapv:UnspecifiedMatching OMIM:616017 TRIM69 skos:exactMatch ncbigene:140691 semapv:UnspecifiedMatching -OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:RCOR2 semapv:UnspecifiedMatching OMIM:616019 RCOR2 skos:exactMatch ncbigene:283248 semapv:UnspecifiedMatching -OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:CYYR1 semapv:UnspecifiedMatching +OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:RCOR2 semapv:UnspecifiedMatching OMIM:616020 CYYR1 skos:exactMatch ncbigene:116159 semapv:UnspecifiedMatching +OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:CYYR1 semapv:UnspecifiedMatching OMIM:616021 CYYR1AS1 skos:exactMatch hgnc.symbol:CYYR1-AS1 semapv:UnspecifiedMatching OMIM:616021 CYYR1AS1 skos:exactMatch ncbigene:100996571 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch ncbigene:57466 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:SCAF4 semapv:UnspecifiedMatching OMIM:616023 SCAF4 skos:exactMatch UMLS:C1426151 semapv:UnspecifiedMatching OMIM:616023 SCAF4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:SCAF4 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch ncbigene:57466 semapv:UnspecifiedMatching OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:SCAF8 semapv:UnspecifiedMatching OMIM:616024 SCAF8 skos:exactMatch ncbigene:22828 semapv:UnspecifiedMatching -OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching +OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching OMIM:616027 ANLN skos:exactMatch hgnc.symbol:ANLN semapv:UnspecifiedMatching OMIM:616027 ANLN skos:exactMatch ncbigene:54443 semapv:UnspecifiedMatching -OMIM:616031 CCDC141 skos:exactMatch ncbigene:285025 semapv:UnspecifiedMatching OMIM:616031 CCDC141 skos:exactMatch hgnc.symbol:CCDC141 semapv:UnspecifiedMatching +OMIM:616031 CCDC141 skos:exactMatch ncbigene:285025 semapv:UnspecifiedMatching OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch Orphanet:431361 semapv:UnspecifiedMatching OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:FOXJ3 semapv:UnspecifiedMatching OMIM:616035 FOXJ3 skos:exactMatch ncbigene:22887 semapv:UnspecifiedMatching -OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:MIR494 semapv:UnspecifiedMatching OMIM:616036 MIR494 skos:exactMatch ncbigene:574452 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:MIR494 semapv:UnspecifiedMatching OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:TSTD1 semapv:UnspecifiedMatching OMIM:616041 TSTD1 skos:exactMatch ncbigene:100131187 semapv:UnspecifiedMatching -OMIM:616043 PCAT1 skos:exactMatch ncbigene:100750225 semapv:UnspecifiedMatching OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:PCAT1 semapv:UnspecifiedMatching +OMIM:616043 PCAT1 skos:exactMatch ncbigene:100750225 semapv:UnspecifiedMatching OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching -OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:PSTPIP2 semapv:UnspecifiedMatching OMIM:616046 PSTPIP2 skos:exactMatch ncbigene:9050 semapv:UnspecifiedMatching -OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:CFAP97 semapv:UnspecifiedMatching +OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:PSTPIP2 semapv:UnspecifiedMatching OMIM:616047 CFAP97 skos:exactMatch ncbigene:57587 semapv:UnspecifiedMatching +OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:CFAP97 semapv:UnspecifiedMatching OMIM:616048 APTR skos:exactMatch hgnc.symbol:APTR semapv:UnspecifiedMatching OMIM:616048 APTR skos:exactMatch ncbigene:100505854 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch ncbigene:10953 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:TOMM34 semapv:UnspecifiedMatching OMIM:616049 TOMM34 skos:exactMatch UMLS:C1423699 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:TOMM34 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch ncbigene:10953 semapv:UnspecifiedMatching OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch Orphanet:352479 semapv:UnspecifiedMatching -OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:ELP2 semapv:UnspecifiedMatching OMIM:616054 ELP2 skos:exactMatch ncbigene:55250 semapv:UnspecifiedMatching -OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching +OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:ELP2 semapv:UnspecifiedMatching OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching OMIM:616057 TUSC7 skos:exactMatch hgnc.symbol:TUSC7 semapv:UnspecifiedMatching OMIM:616057 TUSC7 skos:exactMatch ncbigene:285194 semapv:UnspecifiedMatching -OMIM:616058 TARID skos:exactMatch ncbigene:100507308 semapv:UnspecifiedMatching OMIM:616058 TARID skos:exactMatch hgnc.symbol:TARID semapv:UnspecifiedMatching +OMIM:616058 TARID skos:exactMatch ncbigene:100507308 semapv:UnspecifiedMatching OMIM:616061 MGA skos:exactMatch hgnc.symbol:MGA semapv:UnspecifiedMatching OMIM:616061 MGA skos:exactMatch ncbigene:23269 semapv:UnspecifiedMatching OMIM:616062 ANKLE2 skos:exactMatch UMLS:C2678596 semapv:UnspecifiedMatching @@ -36978,230 +36982,230 @@ OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:ANKLE2 semapv:UnspecifiedMatching OMIM:616062 ANKLE2 skos:exactMatch ncbigene:23141 semapv:UnspecifiedMatching OMIM:616064 TINAGL1 skos:exactMatch ncbigene:64129 semapv:UnspecifiedMatching OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:TINAGL1 semapv:UnspecifiedMatching -OMIM:616065 PIANP skos:exactMatch ncbigene:196500 semapv:UnspecifiedMatching OMIM:616065 PIANP skos:exactMatch hgnc.symbol:PIANP semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch ncbigene:196500 semapv:UnspecifiedMatching OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:SOHLH2 semapv:UnspecifiedMatching OMIM:616066 SOHLH2 skos:exactMatch ncbigene:54937 semapv:UnspecifiedMatching OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching -OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CCDC113 semapv:UnspecifiedMatching OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching -OMIM:616071 C7ORF31 skos:exactMatch ncbigene:136895 semapv:UnspecifiedMatching +OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CCDC113 semapv:UnspecifiedMatching OMIM:616071 C7ORF31 skos:exactMatch hgnc.symbol:C7orf31 semapv:UnspecifiedMatching +OMIM:616071 C7ORF31 skos:exactMatch ncbigene:136895 semapv:UnspecifiedMatching OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:HP1BP3 semapv:UnspecifiedMatching OMIM:616072 HP1BP3 skos:exactMatch ncbigene:50809 semapv:UnspecifiedMatching OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:DEPDC1B semapv:UnspecifiedMatching OMIM:616073 DEPDC1B skos:exactMatch ncbigene:55789 semapv:UnspecifiedMatching OMIM:616074 CKLF skos:exactMatch hgnc.symbol:CKLF semapv:UnspecifiedMatching OMIM:616074 CKLF skos:exactMatch ncbigene:51192 semapv:UnspecifiedMatching -OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:DEFB121 semapv:UnspecifiedMatching OMIM:616075 DEFB121 skos:exactMatch ncbigene:245934 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:DEFB121 semapv:UnspecifiedMatching OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:DEFB123 semapv:UnspecifiedMatching OMIM:616076 DEFB123 skos:exactMatch ncbigene:245936 semapv:UnspecifiedMatching -OMIM:616077 DEFB122 skos:exactMatch ncbigene:245935 semapv:UnspecifiedMatching OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:DEFB122 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch ncbigene:245935 semapv:UnspecifiedMatching OMIM:616082 C12ORF4 skos:exactMatch hgnc.symbol:C12orf4 semapv:UnspecifiedMatching OMIM:616082 C12ORF4 skos:exactMatch ncbigene:57102 semapv:UnspecifiedMatching -OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:ZNF37A semapv:UnspecifiedMatching OMIM:616085 ZNF37A skos:exactMatch ncbigene:7587 semapv:UnspecifiedMatching -OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:SPRTN semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:ZNF37A semapv:UnspecifiedMatching OMIM:616086 SPRTN skos:exactMatch ncbigene:83932 semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:SPRTN semapv:UnspecifiedMatching OMIM:616087 iia 2 diabetes 5 skos:exactMatch UMLS:C4015183 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch ncbigene:440712 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch hgnc.symbol:RHEX semapv:UnspecifiedMatching OMIM:616088 RHEX skos:exactMatch UMLS:C1823800 semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch hgnc.symbol:RHEX semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch ncbigene:440712 semapv:UnspecifiedMatching OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:MIR802 semapv:UnspecifiedMatching OMIM:616090 MIR802 skos:exactMatch ncbigene:768219 semapv:UnspecifiedMatching OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:METTL17 semapv:UnspecifiedMatching OMIM:616091 METTL17 skos:exactMatch ncbigene:64745 semapv:UnspecifiedMatching -OMIM:616092 FALEC skos:exactMatch hgnc.symbol:FALEC semapv:UnspecifiedMatching OMIM:616092 FALEC skos:exactMatch ncbigene:100874054 semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch hgnc.symbol:FALEC semapv:UnspecifiedMatching OMIM:616096 MHRT skos:exactMatch hgnc.symbol:MHRT semapv:UnspecifiedMatching OMIM:616096 MHRT skos:exactMatch ncbigene:104564225 semapv:UnspecifiedMatching -OMIM:616097 UQCC3 skos:exactMatch ncbigene:790955 semapv:UnspecifiedMatching OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:UQCC3 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch ncbigene:790955 semapv:UnspecifiedMatching OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:TMEM240 semapv:UnspecifiedMatching OMIM:616101 TMEM240 skos:exactMatch ncbigene:339453 semapv:UnspecifiedMatching OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:TMX3 semapv:UnspecifiedMatching OMIM:616102 TMX3 skos:exactMatch ncbigene:54495 semapv:UnspecifiedMatching -OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:LRIT1 semapv:UnspecifiedMatching OMIM:616103 LRIT1 skos:exactMatch ncbigene:26103 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:LRIT1 semapv:UnspecifiedMatching OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:RBPJL semapv:UnspecifiedMatching OMIM:616104 RBPJL skos:exactMatch ncbigene:11317 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch ncbigene:57231 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:SNX14 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching OMIM:616105 SNX14 skos:exactMatch UMLS:C1423104 semapv:UnspecifiedMatching -OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:SNX14 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch ncbigene:57231 semapv:UnspecifiedMatching OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching -OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:FAR1 semapv:UnspecifiedMatching +OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching OMIM:616107 FAR1 skos:exactMatch ncbigene:84188 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:FAR1 semapv:UnspecifiedMatching OMIM:616109 C11ORF80 skos:exactMatch hgnc.symbol:C11orf80 semapv:UnspecifiedMatching OMIM:616109 C11ORF80 skos:exactMatch ncbigene:79703 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch ncbigene:23220 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:DTX4 semapv:UnspecifiedMatching OMIM:616110 DTX4 skos:exactMatch UMLS:C1428799 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:DTX4 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch ncbigene:23220 semapv:UnspecifiedMatching OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:LMOD3 semapv:UnspecifiedMatching OMIM:616112 LMOD3 skos:exactMatch ncbigene:56203 semapv:UnspecifiedMatching -OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:CHD6 semapv:UnspecifiedMatching OMIM:616114 CHD6 skos:exactMatch ncbigene:84181 semapv:UnspecifiedMatching -OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch UMLS:C4015285 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:CHD6 semapv:UnspecifiedMatching OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching +OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch UMLS:C4015285 semapv:UnspecifiedMatching OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:CFAP126 semapv:UnspecifiedMatching OMIM:616119 CFAP126 skos:exactMatch ncbigene:257177 semapv:UnspecifiedMatching -OMIM:616120 CWF19L1 skos:exactMatch ncbigene:55280 semapv:UnspecifiedMatching OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:CWF19L1 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch ncbigene:55280 semapv:UnspecifiedMatching OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:GVINP1 semapv:UnspecifiedMatching OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:FAM86B1 semapv:UnspecifiedMatching OMIM:616122 FAM86B1 skos:exactMatch ncbigene:85002 semapv:UnspecifiedMatching OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:FAM86B2 semapv:UnspecifiedMatching OMIM:616123 FAM86B2 skos:exactMatch ncbigene:653333 semapv:UnspecifiedMatching -OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:FAM86C1P semapv:UnspecifiedMatching OMIM:616124 FAM86C1P skos:exactMatch ncbigene:55199 semapv:UnspecifiedMatching -OMIM:616125 PRMT9 skos:exactMatch ncbigene:90826 semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:FAM86C1P semapv:UnspecifiedMatching OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:PRMT9 semapv:UnspecifiedMatching -OMIM:616128 FAM89B skos:exactMatch ncbigene:23625 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch ncbigene:90826 semapv:UnspecifiedMatching OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:FAM89B semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch ncbigene:23625 semapv:UnspecifiedMatching OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:LURAP1 semapv:UnspecifiedMatching OMIM:616129 LURAP1 skos:exactMatch ncbigene:541468 semapv:UnspecifiedMatching OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:LURAP1L semapv:UnspecifiedMatching OMIM:616130 LURAP1L skos:exactMatch ncbigene:286343 semapv:UnspecifiedMatching -OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:GACAT2 semapv:UnspecifiedMatching OMIM:616131 GACAT2 skos:exactMatch ncbigene:100287082 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:GACAT2 semapv:UnspecifiedMatching OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:GACAT3 semapv:UnspecifiedMatching OMIM:616132 GACAT3 skos:exactMatch ncbigene:104797537 semapv:UnspecifiedMatching -OMIM:616133 MPV17L2 skos:exactMatch ncbigene:84769 semapv:UnspecifiedMatching OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:MPV17L2 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch ncbigene:84769 semapv:UnspecifiedMatching OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:H3-5 semapv:UnspecifiedMatching OMIM:616134 H3F3C skos:exactMatch ncbigene:440093 semapv:UnspecifiedMatching OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:IFIT5 semapv:UnspecifiedMatching OMIM:616135 IFIT5 skos:exactMatch ncbigene:24138 semapv:UnspecifiedMatching -OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:RNF220 semapv:UnspecifiedMatching OMIM:616136 RNF220 skos:exactMatch ncbigene:55182 semapv:UnspecifiedMatching -OMIM:616137 MIR873 skos:exactMatch ncbigene:100126316 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:RNF220 semapv:UnspecifiedMatching OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:MIR873 semapv:UnspecifiedMatching -OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch ncbigene:100126316 semapv:UnspecifiedMatching OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching +OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:MACROH2A2 semapv:UnspecifiedMatching OMIM:616141 MACROH2A2 skos:exactMatch ncbigene:55506 semapv:UnspecifiedMatching -OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:FAM98B semapv:UnspecifiedMatching OMIM:616142 FAM98B skos:exactMatch ncbigene:283742 semapv:UnspecifiedMatching -OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:LYPLA2 semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:FAM98B semapv:UnspecifiedMatching OMIM:616143 LYPLA2 skos:exactMatch ncbigene:11313 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:LYPLA2 semapv:UnspecifiedMatching OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:WDR73 semapv:UnspecifiedMatching OMIM:616144 WDR73 skos:exactMatch ncbigene:84942 semapv:UnspecifiedMatching -OMIM:616146 TGDS skos:exactMatch ncbigene:23483 semapv:UnspecifiedMatching OMIM:616146 TGDS skos:exactMatch hgnc.symbol:TGDS semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch ncbigene:23483 semapv:UnspecifiedMatching OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:CDK15 semapv:UnspecifiedMatching OMIM:616147 CDK15 skos:exactMatch ncbigene:65061 semapv:UnspecifiedMatching OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:TRIM59 semapv:UnspecifiedMatching OMIM:616148 TRIM59 skos:exactMatch ncbigene:286827 semapv:UnspecifiedMatching -OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:SLC25A36 semapv:UnspecifiedMatching OMIM:616149 SLC25A36 skos:exactMatch ncbigene:55186 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:SLC25A36 semapv:UnspecifiedMatching OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:SLC25A48 semapv:UnspecifiedMatching OMIM:616150 SLC25A48 skos:exactMatch ncbigene:153328 semapv:UnspecifiedMatching -OMIM:616153 SLC25A52 skos:exactMatch ncbigene:147407 semapv:UnspecifiedMatching OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:SLC25A52 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch ncbigene:147407 semapv:UnspecifiedMatching OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:FAR2 semapv:UnspecifiedMatching OMIM:616156 FAR2 skos:exactMatch ncbigene:55711 semapv:UnspecifiedMatching -OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:DHRS13 semapv:UnspecifiedMatching OMIM:616157 DHRS13 skos:exactMatch ncbigene:147015 semapv:UnspecifiedMatching -OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:DHRS11 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:DHRS13 semapv:UnspecifiedMatching OMIM:616159 DHRS11 skos:exactMatch ncbigene:79154 semapv:UnspecifiedMatching -OMIM:616160 DHRS7B skos:exactMatch ncbigene:25979 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:DHRS11 semapv:UnspecifiedMatching OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:DHRS7B semapv:UnspecifiedMatching -OMIM:616161 DHRS7C skos:exactMatch ncbigene:201140 semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch ncbigene:25979 semapv:UnspecifiedMatching OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:DHRS7C semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch ncbigene:201140 semapv:UnspecifiedMatching OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:SDR39U1 semapv:UnspecifiedMatching OMIM:616162 SDR39U1 skos:exactMatch ncbigene:56948 semapv:UnspecifiedMatching OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:DHRS12 semapv:UnspecifiedMatching OMIM:616163 DHRS12 skos:exactMatch ncbigene:79758 semapv:UnspecifiedMatching -OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:SDR42E1 semapv:UnspecifiedMatching OMIM:616164 SDR42E1 skos:exactMatch ncbigene:93517 semapv:UnspecifiedMatching -OMIM:616167 DCUN1D3 skos:exactMatch ncbigene:123879 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:SDR42E1 semapv:UnspecifiedMatching OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:DCUN1D3 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch ncbigene:100188893 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:TOMM6 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch ncbigene:123879 semapv:UnspecifiedMatching OMIM:616168 TOMM6 skos:exactMatch UMLS:C2680495 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:TOMM6 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch ncbigene:100188893 semapv:UnspecifiedMatching OMIM:616169 TOMM5 skos:exactMatch UMLS:C1538341 semapv:UnspecifiedMatching OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:TOMM5 semapv:UnspecifiedMatching OMIM:616169 TOMM5 skos:exactMatch ncbigene:401505 semapv:UnspecifiedMatching -OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:NSRP1 semapv:UnspecifiedMatching OMIM:616173 NSRP1 skos:exactMatch ncbigene:84081 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:NSRP1 semapv:UnspecifiedMatching OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:CKAP2L semapv:UnspecifiedMatching OMIM:616174 CKAP2L skos:exactMatch ncbigene:150468 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch ncbigene:51465 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:UBE2J1 semapv:UnspecifiedMatching OMIM:616175 UBE2J1 skos:exactMatch UMLS:C1425009 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:UBE2J1 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch ncbigene:51465 semapv:UnspecifiedMatching OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:DDRGK1 semapv:UnspecifiedMatching OMIM:616177 DDRGK1 skos:exactMatch ncbigene:65992 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch ncbigene:124842 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:TMEM132E semapv:UnspecifiedMatching OMIM:616178 TMEM132E skos:exactMatch UMLS:C1823395 semapv:UnspecifiedMatching OMIM:616178 TMEM132E skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:TMEM132E semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch ncbigene:124842 semapv:UnspecifiedMatching OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:TXNDC16 semapv:UnspecifiedMatching OMIM:616179 TXNDC16 skos:exactMatch ncbigene:57544 semapv:UnspecifiedMatching -OMIM:616180 GOLGA8A skos:exactMatch ncbigene:23015 semapv:UnspecifiedMatching OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:GOLGA8A semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch ncbigene:23015 semapv:UnspecifiedMatching OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:ZNF713 semapv:UnspecifiedMatching OMIM:616181 ZNF713 skos:exactMatch ncbigene:349075 semapv:UnspecifiedMatching -OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching OMIM:616183 TMEM107 skos:exactMatch ncbigene:84314 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching OMIM:616184 CLUH skos:exactMatch hgnc.symbol:CLUH semapv:UnspecifiedMatching OMIM:616184 CLUH skos:exactMatch ncbigene:23277 semapv:UnspecifiedMatching OMIM:616186 h19/igf2-imprinting control region skos:exactMatch ncbigene:105259599 semapv:UnspecifiedMatching OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:CMTR1 semapv:UnspecifiedMatching OMIM:616189 CMTR1 skos:exactMatch ncbigene:23070 semapv:UnspecifiedMatching -OMIM:616190 CMTR2 skos:exactMatch ncbigene:55783 semapv:UnspecifiedMatching OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:CMTR2 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch ncbigene:55783 semapv:UnspecifiedMatching OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:DLGAP4 semapv:UnspecifiedMatching OMIM:616191 DLGAP4 skos:exactMatch ncbigene:22839 semapv:UnspecifiedMatching -OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:UTP15 semapv:UnspecifiedMatching OMIM:616194 UTP15 skos:exactMatch ncbigene:84135 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:UTP15 semapv:UnspecifiedMatching OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:WDR43 semapv:UnspecifiedMatching OMIM:616195 WDR43 skos:exactMatch ncbigene:23160 semapv:UnspecifiedMatching OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:DCAF13 semapv:UnspecifiedMatching OMIM:616196 DCAF13 skos:exactMatch ncbigene:25879 semapv:UnspecifiedMatching OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:NOL10 semapv:UnspecifiedMatching OMIM:616197 NOL10 skos:exactMatch ncbigene:79954 semapv:UnspecifiedMatching -OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:SLC38A9 semapv:UnspecifiedMatching OMIM:616203 SLC38A9 skos:exactMatch ncbigene:153129 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:SLC38A9 semapv:UnspecifiedMatching OMIM:616205 MIR648 skos:exactMatch ncbigene:693233 semapv:UnspecifiedMatching OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:MIR648 semapv:UnspecifiedMatching -OMIM:616206 NBAT1 skos:exactMatch ncbigene:729177 semapv:UnspecifiedMatching OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:NBAT1 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch ncbigene:729177 semapv:UnspecifiedMatching OMIM:616207 NRAV skos:exactMatch hgnc.symbol:NRAV semapv:UnspecifiedMatching OMIM:616207 NRAV skos:exactMatch ncbigene:100506668 semapv:UnspecifiedMatching OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:C4orf46 semapv:UnspecifiedMatching OMIM:616210 C4ORF46 skos:exactMatch ncbigene:201725 semapv:UnspecifiedMatching OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:ZNF292 semapv:UnspecifiedMatching OMIM:616213 ZNF292 skos:exactMatch ncbigene:23036 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch ncbigene:90993 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:CREB3L1 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:ZNF292 semapv:UnspecifiedMatching OMIM:616215 CREB3L1 skos:exactMatch UMLS:C1425827 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:CREB3L1 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch ncbigene:90993 semapv:UnspecifiedMatching OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:TBC1D13 semapv:UnspecifiedMatching OMIM:616218 TBC1D13 skos:exactMatch ncbigene:54662 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching OMIM:616222 temple syndrome skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching OMIM:616222 temple syndrome skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch ncbigene:55908 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching OMIM:616223 ANGPTL8 skos:exactMatch UMLS:C3469759 semapv:UnspecifiedMatching OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:ANGPTL8 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch ncbigene:55908 semapv:UnspecifiedMatching OMIM:616225 ATG2A skos:exactMatch UMLS:C2239907 semapv:UnspecifiedMatching OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:ATG2A semapv:UnspecifiedMatching OMIM:616225 ATG2A skos:exactMatch ncbigene:23130 semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch UMLS:C1426760 semapv:UnspecifiedMatching OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:ATG2B semapv:UnspecifiedMatching OMIM:616226 ATG2B skos:exactMatch ncbigene:55102 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch UMLS:C1426760 semapv:UnspecifiedMatching OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:MEIKIN semapv:UnspecifiedMatching OMIM:616232 MEIKIN skos:exactMatch ncbigene:728637 semapv:UnspecifiedMatching @@ -37211,42 +37215,42 @@ OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:KATNBL1 semapv:UnspecifiedMatchi OMIM:616235 KATNBL1 skos:exactMatch ncbigene:79768 semapv:UnspecifiedMatching OMIM:616236 CHADL skos:exactMatch hgnc.symbol:CHADL semapv:UnspecifiedMatching OMIM:616236 CHADL skos:exactMatch ncbigene:150356 semapv:UnspecifiedMatching -OMIM:616237 KNDC1 skos:exactMatch ncbigene:85442 semapv:UnspecifiedMatching OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:KNDC1 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch ncbigene:85442 semapv:UnspecifiedMatching OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:ZBTB49 semapv:UnspecifiedMatching OMIM:616238 ZBTB49 skos:exactMatch ncbigene:166793 semapv:UnspecifiedMatching -OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:OLMALINC semapv:UnspecifiedMatching OMIM:616240 OLMALINC skos:exactMatch ncbigene:90271 semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:OLMALINC semapv:UnspecifiedMatching OMIM:616241 METRNL skos:exactMatch hgnc.symbol:METRNL semapv:UnspecifiedMatching OMIM:616241 METRNL skos:exactMatch ncbigene:284207 semapv:UnspecifiedMatching OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:TMCC1 semapv:UnspecifiedMatching OMIM:616242 TMCC1 skos:exactMatch ncbigene:23023 semapv:UnspecifiedMatching -OMIM:616243 TMEM131L skos:exactMatch ncbigene:23240 semapv:UnspecifiedMatching OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:TMEM131L semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch ncbigene:23240 semapv:UnspecifiedMatching OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:CHCHD2 semapv:UnspecifiedMatching OMIM:616244 CHCHD2 skos:exactMatch ncbigene:51142 semapv:UnspecifiedMatching -OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:EMC4 semapv:UnspecifiedMatching OMIM:616245 EMC4 skos:exactMatch ncbigene:51234 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:EMC4 semapv:UnspecifiedMatching OMIM:616246 MRLN skos:exactMatch hgnc.symbol:MRLN semapv:UnspecifiedMatching OMIM:616246 MRLN skos:exactMatch ncbigene:100507027 semapv:UnspecifiedMatching OMIM:616247 long qt syndrome 14 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:616249 long qt syndrome 15 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching -OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:NWD1 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:616250 NWD1 skos:exactMatch ncbigene:284434 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:NWD1 semapv:UnspecifiedMatching OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:TCAF1 semapv:UnspecifiedMatching OMIM:616251 TCAF1 skos:exactMatch ncbigene:9747 semapv:UnspecifiedMatching OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:TCAF2 semapv:UnspecifiedMatching OMIM:616252 TCAF2 skos:exactMatch ncbigene:285966 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch UMLS:C2239511 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:GSX2 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch ncbigene:170825 semapv:UnspecifiedMatching -OMIM:616254 CLPB skos:exactMatch hgnc.symbol:CLPB semapv:UnspecifiedMatching OMIM:616254 CLPB skos:exactMatch ncbigene:81570 semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch hgnc.symbol:CLPB semapv:UnspecifiedMatching OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:CLEC4G semapv:UnspecifiedMatching OMIM:616256 CLEC4G skos:exactMatch ncbigene:339390 semapv:UnspecifiedMatching OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:FKBP9 semapv:UnspecifiedMatching @@ -37255,91 +37259,91 @@ OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:SNHG14 semapv:UnspecifiedMatching OMIM:616259 SNHG14 skos:exactMatch ncbigene:104472715 semapv:UnspecifiedMatching OMIM:616261 PUS7 skos:exactMatch ncbigene:54517 semapv:UnspecifiedMatching OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:PUS7 semapv:UnspecifiedMatching -OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:KLHL21 semapv:UnspecifiedMatching OMIM:616262 KLHL21 skos:exactMatch ncbigene:9903 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:KLHL21 semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch UMLS:C3891017 semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:MAFTRR semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch ncbigene:102467146 semapv:UnspecifiedMatching OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching -OMIM:616268 arboleda-tham syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching OMIM:616268 arboleda-tham syndrome skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching +OMIM:616268 arboleda-tham syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:MIR520G semapv:UnspecifiedMatching OMIM:616272 MIR520G skos:exactMatch ncbigene:574484 semapv:UnspecifiedMatching -OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:PCAT29 semapv:UnspecifiedMatching OMIM:616273 PCAT29 skos:exactMatch ncbigene:104472713 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:PCAT29 semapv:UnspecifiedMatching OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:MIR4276 semapv:UnspecifiedMatching OMIM:616274 MIR4276 skos:exactMatch ncbigene:100423042 semapv:UnspecifiedMatching OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:FAM136A semapv:UnspecifiedMatching OMIM:616275 FAM136A skos:exactMatch ncbigene:84908 semapv:UnspecifiedMatching -OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching +OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching -OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch UMLS:C4225387 semapv:UnspecifiedMatching OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching +OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch UMLS:C4225387 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch UMLS:C1538753 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:PUS3 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch ncbigene:83480 semapv:UnspecifiedMatching -OMIM:616284 FLG2 skos:exactMatch ncbigene:388698 semapv:UnspecifiedMatching OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:FLG2 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch ncbigene:388698 semapv:UnspecifiedMatching OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:FMNL2 semapv:UnspecifiedMatching OMIM:616285 FMNL2 skos:exactMatch ncbigene:114793 semapv:UnspecifiedMatching -OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:FMNL3 semapv:UnspecifiedMatching OMIM:616288 FMNL3 skos:exactMatch ncbigene:91010 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:FMNL3 semapv:UnspecifiedMatching OMIM:616289 optic atrophy 9 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching OMIM:616289 optic atrophy 9 skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:ZNF658 semapv:UnspecifiedMatching OMIM:616290 ZNF658 skos:exactMatch ncbigene:26149 semapv:UnspecifiedMatching OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching -OMIM:616292 SAXO1 skos:exactMatch ncbigene:158297 semapv:UnspecifiedMatching OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:SAXO1 semapv:UnspecifiedMatching -OMIM:616293 HRNR skos:exactMatch hgnc.symbol:HRNR semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch ncbigene:158297 semapv:UnspecifiedMatching OMIM:616293 HRNR skos:exactMatch ncbigene:388697 semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch hgnc.symbol:HRNR semapv:UnspecifiedMatching OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch UMLS:C4225382 semapv:UnspecifiedMatching OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:MCTP1 semapv:UnspecifiedMatching OMIM:616296 MCTP1 skos:exactMatch ncbigene:79772 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch UMLS:C1825955 semapv:UnspecifiedMatching OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:MCTP2 semapv:UnspecifiedMatching OMIM:616297 MCTP2 skos:exactMatch ncbigene:55784 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch UMLS:C1825955 semapv:UnspecifiedMatching OMIM:616298 singleton-merten syndrome 2 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching OMIM:616298 singleton-merten syndrome 2 skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching -OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching +OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:CD300LD semapv:UnspecifiedMatching OMIM:616301 CD300LD skos:exactMatch ncbigene:100131439 semapv:UnspecifiedMatching -OMIM:616302 FOXK1 skos:exactMatch ncbigene:221937 semapv:UnspecifiedMatching OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:FOXK1 semapv:UnspecifiedMatching -OMIM:616303 WDR91 skos:exactMatch ncbigene:29062 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch ncbigene:221937 semapv:UnspecifiedMatching OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:WDR91 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch ncbigene:29062 semapv:UnspecifiedMatching OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:FRMD4A semapv:UnspecifiedMatching OMIM:616305 FRMD4A skos:exactMatch ncbigene:55691 semapv:UnspecifiedMatching -OMIM:616306 FSBP skos:exactMatch hgnc.symbol:FSBP semapv:UnspecifiedMatching OMIM:616306 FSBP skos:exactMatch ncbigene:100861412 semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch hgnc.symbol:FSBP semapv:UnspecifiedMatching OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:BGLT3 semapv:UnspecifiedMatching OMIM:616308 BGLT3 skos:exactMatch ncbigene:103344929 semapv:UnspecifiedMatching OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:FRMD5 semapv:UnspecifiedMatching OMIM:616309 FRMD5 skos:exactMatch ncbigene:84978 semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch ncbigene:89839 semapv:UnspecifiedMatching OMIM:616310 ARHGAP11B skos:exactMatch UMLS:C1538923 semapv:UnspecifiedMatching OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:ARHGAP11B semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch ncbigene:89839 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch ncbigene:221496 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:LEMD2 semapv:UnspecifiedMatching OMIM:616312 LEMD2 skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching OMIM:616312 LEMD2 skos:exactMatch UMLS:C1427448 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:LEMD2 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch ncbigene:221496 semapv:UnspecifiedMatching OMIM:616315 PAXX skos:exactMatch hgnc.symbol:PAXX semapv:UnspecifiedMatching OMIM:616315 PAXX skos:exactMatch ncbigene:286257 semapv:UnspecifiedMatching OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:FAM168A semapv:UnspecifiedMatching OMIM:616316 FAM168A skos:exactMatch ncbigene:23201 semapv:UnspecifiedMatching -OMIM:616317 GDPD1 skos:exactMatch ncbigene:284161 semapv:UnspecifiedMatching OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:GDPD1 semapv:UnspecifiedMatching -OMIM:616318 GDPD3 skos:exactMatch ncbigene:79153 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch ncbigene:284161 semapv:UnspecifiedMatching OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:GDPD3 semapv:UnspecifiedMatching -OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:RNF138 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch ncbigene:79153 semapv:UnspecifiedMatching OMIM:616319 RNF138 skos:exactMatch ncbigene:51444 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:RNF138 semapv:UnspecifiedMatching OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:FAHD1 semapv:UnspecifiedMatching OMIM:616320 FAHD1 skos:exactMatch ncbigene:81889 semapv:UnspecifiedMatching OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch UMLS:C4225371 semapv:UnspecifiedMatching @@ -37348,8 +37352,8 @@ OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Or OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:CHAMP1 semapv:UnspecifiedMatching OMIM:616327 CHAMP1 skos:exactMatch ncbigene:283489 semapv:UnspecifiedMatching OMIM:616328 long intergenic noncoding RNA pinky skos:exactMatch ncbigene:105447646 semapv:UnspecifiedMatching -OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:ARMT1 semapv:UnspecifiedMatching OMIM:616332 ARMT1 skos:exactMatch ncbigene:79624 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:ARMT1 semapv:UnspecifiedMatching OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:WSPAR semapv:UnspecifiedMatching OMIM:616333 WSPAR skos:exactMatch ncbigene:105664404 semapv:UnspecifiedMatching OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:TMEM100 semapv:UnspecifiedMatching @@ -37358,153 +37362,153 @@ OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:AKR1B15 semapv:UnspecifiedMatchi OMIM:616336 AKR1B15 skos:exactMatch ncbigene:441282 semapv:UnspecifiedMatching OMIM:616337 SOCS4 skos:exactMatch ncbigene:122809 semapv:UnspecifiedMatching OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:SOCS4 semapv:UnspecifiedMatching -OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:SOX2-OT semapv:UnspecifiedMatching OMIM:616338 SOX2OT skos:exactMatch ncbigene:347689 semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:SOX2-OT semapv:UnspecifiedMatching OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch UMLS:C4084712 semapv:UnspecifiedMatching OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch ncbigene:102800311 semapv:UnspecifiedMatching OMIM:616343 TP53COR1 skos:exactMatch UMLS:C4085705 semapv:UnspecifiedMatching OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:TP53COR1 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch ncbigene:102800311 semapv:UnspecifiedMatching OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:TTC23L semapv:UnspecifiedMatching OMIM:616344 TTC23L skos:exactMatch ncbigene:153657 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching OMIM:616346 developmental and epileptic encephalopathy 31 skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching OMIM:616346 developmental and epileptic encephalopathy 31 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616347 PRDM11 skos:exactMatch ncbigene:56981 semapv:UnspecifiedMatching OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:PRDM11 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch ncbigene:56981 semapv:UnspecifiedMatching OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:ZNF695 semapv:UnspecifiedMatching OMIM:616348 ZNF695 skos:exactMatch ncbigene:57116 semapv:UnspecifiedMatching -OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:SORBS2 semapv:UnspecifiedMatching OMIM:616349 SORBS2 skos:exactMatch ncbigene:8470 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:SORBS2 semapv:UnspecifiedMatching OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:PARTICL semapv:UnspecifiedMatching OMIM:616350 PARTICL skos:exactMatch ncbigene:100630918 semapv:UnspecifiedMatching OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:ACBD6 semapv:UnspecifiedMatching OMIM:616352 ACBD6 skos:exactMatch ncbigene:84320 semapv:UnspecifiedMatching -OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching +OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:MIR31HG semapv:UnspecifiedMatching OMIM:616356 MIR31HG skos:exactMatch ncbigene:554202 semapv:UnspecifiedMatching -OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:MIR379 semapv:UnspecifiedMatching OMIM:616358 MIR379 skos:exactMatch ncbigene:494328 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:MIR379 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch UMLS:C1824777 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:COQ5 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch ncbigene:84274 semapv:UnspecifiedMatching -OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:TMEM135 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:SPRR4 semapv:UnspecifiedMatching OMIM:616363 SPRR4 skos:exactMatch ncbigene:163778 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch ncbigene:55681 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:SCYL2 semapv:UnspecifiedMatching OMIM:616365 SCYL2 skos:exactMatch UMLS:C1539735 semapv:UnspecifiedMatching OMIM:616365 SCYL2 skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:SCYL2 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch ncbigene:55681 semapv:UnspecifiedMatching OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616372 DCAF4 skos:exactMatch ncbigene:26094 semapv:UnspecifiedMatching OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:DCAF4 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch ncbigene:26094 semapv:UnspecifiedMatching OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:BEND3 semapv:UnspecifiedMatching OMIM:616374 BEND3 skos:exactMatch ncbigene:57673 semapv:UnspecifiedMatching -OMIM:616375 UNK skos:exactMatch hgnc.symbol:UNK semapv:UnspecifiedMatching OMIM:616375 UNK skos:exactMatch ncbigene:85451 semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch hgnc.symbol:UNK semapv:UnspecifiedMatching OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:MIR656 semapv:UnspecifiedMatching OMIM:616376 MIR656 skos:exactMatch ncbigene:724026 semapv:UnspecifiedMatching OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:PRODH2 semapv:UnspecifiedMatching OMIM:616377 PRODH2 skos:exactMatch ncbigene:58510 semapv:UnspecifiedMatching OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:UBXN1 semapv:UnspecifiedMatching OMIM:616378 UBXN1 skos:exactMatch ncbigene:51035 semapv:UnspecifiedMatching -OMIM:616379 UBXN7 skos:exactMatch ncbigene:26043 semapv:UnspecifiedMatching OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:UBXN7 semapv:UnspecifiedMatching -OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:LAMB4 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch ncbigene:26043 semapv:UnspecifiedMatching OMIM:616380 LAMB4 skos:exactMatch ncbigene:22798 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:LAMB4 semapv:UnspecifiedMatching OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:ZCCHC8 semapv:UnspecifiedMatching OMIM:616381 ZCCHC8 skos:exactMatch ncbigene:55596 semapv:UnspecifiedMatching OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:UGT2A3 semapv:UnspecifiedMatching OMIM:616382 UGT2A3 skos:exactMatch ncbigene:79799 semapv:UnspecifiedMatching OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:UGT3A1 semapv:UnspecifiedMatching OMIM:616383 UGT3A1 skos:exactMatch ncbigene:133688 semapv:UnspecifiedMatching -OMIM:616384 UGT3A2 skos:exactMatch ncbigene:167127 semapv:UnspecifiedMatching OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:UGT3A2 semapv:UnspecifiedMatching -OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:LINC01018 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch ncbigene:167127 semapv:UnspecifiedMatching OMIM:616385 LINC01018 skos:exactMatch ncbigene:255167 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:LINC01018 semapv:UnspecifiedMatching OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:KCTD17 semapv:UnspecifiedMatching OMIM:616386 KCTD17 skos:exactMatch ncbigene:79734 semapv:UnspecifiedMatching OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:DRAIC semapv:UnspecifiedMatching OMIM:616387 DRAIC skos:exactMatch ncbigene:145837 semapv:UnspecifiedMatching OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:UBTD1 semapv:UnspecifiedMatching OMIM:616388 UBTD1 skos:exactMatch ncbigene:80019 semapv:UnspecifiedMatching -OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch UMLS:C4225344 semapv:UnspecifiedMatching -OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:RANBP3L semapv:UnspecifiedMatching +OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:616391 RANBP3L skos:exactMatch ncbigene:202151 semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:RANBP3L semapv:UnspecifiedMatching OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:SKINT1L semapv:UnspecifiedMatching OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch ncbigene:22955 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:SCMH1 semapv:UnspecifiedMatching OMIM:616396 SCMH1 skos:exactMatch UMLS:C1425943 semapv:UnspecifiedMatching -OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:PXMP4 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:SCMH1 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch ncbigene:22955 semapv:UnspecifiedMatching OMIM:616397 PXMP4 skos:exactMatch ncbigene:11264 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:PXMP4 semapv:UnspecifiedMatching OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:SPDL1 semapv:UnspecifiedMatching OMIM:616401 SPDL1 skos:exactMatch ncbigene:54908 semapv:UnspecifiedMatching OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:TP53TG1 semapv:UnspecifiedMatching OMIM:616403 TP53TG1 skos:exactMatch ncbigene:11257 semapv:UnspecifiedMatching -OMIM:616404 POLR1A skos:exactMatch ncbigene:25885 semapv:UnspecifiedMatching OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:POLR1A semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch ncbigene:25885 semapv:UnspecifiedMatching OMIM:616405 AAK1 skos:exactMatch ncbigene:22848 semapv:UnspecifiedMatching OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:AAK1 semapv:UnspecifiedMatching -OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:PYCR2 semapv:UnspecifiedMatching OMIM:616406 PYCR2 skos:exactMatch ncbigene:29920 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:PYCR2 semapv:UnspecifiedMatching OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:PYCR3 semapv:UnspecifiedMatching OMIM:616408 PYCRL skos:exactMatch ncbigene:65263 semapv:UnspecifiedMatching OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:TXNDC5 semapv:UnspecifiedMatching OMIM:616412 TXNDC5 skos:exactMatch ncbigene:81567 semapv:UnspecifiedMatching -OMIM:616416 ADGRL1 skos:exactMatch ncbigene:22859 semapv:UnspecifiedMatching OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:ADGRL1 semapv:UnspecifiedMatching -OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:ADGRL3 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch ncbigene:22859 semapv:UnspecifiedMatching OMIM:616417 ADGRL3 skos:exactMatch ncbigene:23284 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:ADGRL3 semapv:UnspecifiedMatching OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:ADGRL4 semapv:UnspecifiedMatching OMIM:616419 ADGRL4 skos:exactMatch ncbigene:64123 semapv:UnspecifiedMatching OMIM:616422 TEFM skos:exactMatch hgnc.symbol:TEFM semapv:UnspecifiedMatching OMIM:616422 TEFM skos:exactMatch ncbigene:79736 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch ncbigene:22907 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:DHX30 semapv:UnspecifiedMatching OMIM:616423 DHX30 skos:exactMatch UMLS:C1424502 semapv:UnspecifiedMatching OMIM:616423 DHX30 skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:SETD6 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:DHX30 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch ncbigene:22907 semapv:UnspecifiedMatching OMIM:616424 SETD6 skos:exactMatch ncbigene:79918 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:SETD6 semapv:UnspecifiedMatching OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:CEP192 semapv:UnspecifiedMatching OMIM:616426 CEP192 skos:exactMatch ncbigene:55125 semapv:UnspecifiedMatching OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:AKAIN1 semapv:UnspecifiedMatching OMIM:616427 AKAIN1 skos:exactMatch ncbigene:642597 semapv:UnspecifiedMatching -OMIM:616429 SUSD3 skos:exactMatch ncbigene:203328 semapv:UnspecifiedMatching OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:SUSD3 semapv:UnspecifiedMatching -OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:GPAT2 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch ncbigene:203328 semapv:UnspecifiedMatching OMIM:616431 GPAT2 skos:exactMatch ncbigene:150763 semapv:UnspecifiedMatching -OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:ARHGEF18 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:GPAT2 semapv:UnspecifiedMatching OMIM:616432 ARHGEF18 skos:exactMatch ncbigene:23370 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:ARHGEF18 semapv:UnspecifiedMatching OMIM:616434 IST1 skos:exactMatch UMLS:C3470516 semapv:UnspecifiedMatching OMIM:616434 IST1 skos:exactMatch hgnc.symbol:IST1 semapv:UnspecifiedMatching OMIM:616434 IST1 skos:exactMatch ncbigene:9798 semapv:UnspecifiedMatching OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:TNFAIP8L3 semapv:UnspecifiedMatching OMIM:616438 TNFAIP8L3 skos:exactMatch ncbigene:388121 semapv:UnspecifiedMatching -OMIM:616440 SLC32A1 skos:exactMatch ncbigene:140679 semapv:UnspecifiedMatching OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:SLC32A1 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch ncbigene:140679 semapv:UnspecifiedMatching OMIM:616441 OVOL2 skos:exactMatch ncbigene:58495 semapv:UnspecifiedMatching OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:OVOL2 semapv:UnspecifiedMatching -OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:OVOL3 semapv:UnspecifiedMatching OMIM:616442 OVOL3 skos:exactMatch ncbigene:728361 semapv:UnspecifiedMatching +OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:OVOL3 semapv:UnspecifiedMatching OMIM:616443 ZMYM5 skos:exactMatch hgnc.symbol:ZMYM5 semapv:UnspecifiedMatching OMIM:616443 ZMYM5 skos:exactMatch ncbigene:9205 semapv:UnspecifiedMatching OMIM:616444 RBM19 skos:exactMatch hgnc.symbol:RBM19 semapv:UnspecifiedMatching @@ -37532,10 +37536,10 @@ OMIM:616463 ZNF232 skos:exactMatch ncbigene:7775 semapv:UnspecifiedMatching OMIM:616464 ECD skos:exactMatch UMLS:C1825023 semapv:UnspecifiedMatching OMIM:616464 ECD skos:exactMatch hgnc.symbol:ECD semapv:UnspecifiedMatching OMIM:616464 ECD skos:exactMatch ncbigene:11319 semapv:UnspecifiedMatching -OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:VPS50 semapv:UnspecifiedMatching OMIM:616465 VPS50 skos:exactMatch ncbigene:55610 semapv:UnspecifiedMatching -OMIM:616466 UNC5D skos:exactMatch ncbigene:137970 semapv:UnspecifiedMatching +OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:VPS50 semapv:UnspecifiedMatching OMIM:616466 UNC5D skos:exactMatch hgnc.symbol:UNC5D semapv:UnspecifiedMatching +OMIM:616466 UNC5D skos:exactMatch ncbigene:137970 semapv:UnspecifiedMatching OMIM:616467 DPCD skos:exactMatch hgnc.symbol:DPCD semapv:UnspecifiedMatching OMIM:616467 DPCD skos:exactMatch ncbigene:25911 semapv:UnspecifiedMatching OMIM:616471 bethlem myopathy 2 skos:exactMatch UMLS:C4225313 semapv:UnspecifiedMatching @@ -37546,39 +37550,39 @@ OMIM:616473 MIR558 skos:exactMatch hgnc.symbol:MIR558 semapv:UnspecifiedMatching OMIM:616473 MIR558 skos:exactMatch ncbigene:693143 semapv:UnspecifiedMatching OMIM:616474 ZSCAN26 skos:exactMatch ncbigene:7741 semapv:UnspecifiedMatching OMIM:616474 ZSCAN26 skos:exactMatch hgnc.symbol:ZSCAN26 semapv:UnspecifiedMatching -OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:CEP72 semapv:UnspecifiedMatching OMIM:616475 CEP72 skos:exactMatch ncbigene:55722 semapv:UnspecifiedMatching +OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:CEP72 semapv:UnspecifiedMatching OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:AGBL4 semapv:UnspecifiedMatching OMIM:616476 AGBL4 skos:exactMatch ncbigene:84871 semapv:UnspecifiedMatching OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:NRBF2 semapv:UnspecifiedMatching OMIM:616477 NRBF2 skos:exactMatch ncbigene:29982 semapv:UnspecifiedMatching OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:LRGUK semapv:UnspecifiedMatching OMIM:616478 LRGUK skos:exactMatch ncbigene:136332 semapv:UnspecifiedMatching -OMIM:616480 KIAA1328 skos:exactMatch ncbigene:57536 semapv:UnspecifiedMatching OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:KIAA1328 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C1539930 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:TAX1BP3 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch ncbigene:57536 semapv:UnspecifiedMatching OMIM:616484 TAX1BP3 skos:exactMatch ncbigene:30851 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:TAX1BP3 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C1539930 semapv:UnspecifiedMatching OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:ZBTB21 semapv:UnspecifiedMatching OMIM:616485 ZBTB21 skos:exactMatch ncbigene:49854 semapv:UnspecifiedMatching -OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:616489 silver-russell syndrome 3 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching -OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:EWSAT1 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching OMIM:616492 EWSAT1 skos:exactMatch ncbigene:283673 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:EWSAT1 semapv:UnspecifiedMatching OMIM:616493 TASOR skos:exactMatch hgnc.symbol:TASOR semapv:UnspecifiedMatching OMIM:616493 TASOR skos:exactMatch ncbigene:23272 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C1538932 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:ARL6IP6 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch ncbigene:151188 semapv:UnspecifiedMatching -OMIM:616496 NEMP1 skos:exactMatch ncbigene:23306 semapv:UnspecifiedMatching OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:NEMP1 semapv:UnspecifiedMatching -OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:NEMP2 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch ncbigene:23306 semapv:UnspecifiedMatching OMIM:616497 NEMP2 skos:exactMatch ncbigene:100131211 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:NEMP2 semapv:UnspecifiedMatching OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:RETREG3 semapv:UnspecifiedMatching OMIM:616498 RETREG3 skos:exactMatch ncbigene:162427 semapv:UnspecifiedMatching OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:TMEM203 semapv:UnspecifiedMatching @@ -37587,9 +37591,9 @@ OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch U OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch ncbigene:57721 semapv:UnspecifiedMatching OMIM:616504 METTL14 skos:exactMatch UMLS:C2681660 semapv:UnspecifiedMatching OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:METTL14 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch ncbigene:57721 semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch UMLS:C3472710 semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch hgnc.symbol:NDNF semapv:UnspecifiedMatching @@ -37604,9 +37608,9 @@ OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:LARP4B semapv:UnspecifiedMatching OMIM:616513 LARP4B skos:exactMatch ncbigene:23185 semapv:UnspecifiedMatching OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:MCRIP1 semapv:UnspecifiedMatching OMIM:616514 FAM195B skos:exactMatch ncbigene:348262 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching OMIM:616518 SLC38A6 skos:exactMatch ncbigene:145389 semapv:UnspecifiedMatching OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:SLC38A6 semapv:UnspecifiedMatching OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:PDE12 semapv:UnspecifiedMatching @@ -37615,10 +37619,10 @@ OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:AHCYL2 semapv:UnspecifiedMatching OMIM:616520 AHCYL2 skos:exactMatch ncbigene:23382 semapv:UnspecifiedMatching OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:DCUN1D5 semapv:UnspecifiedMatching OMIM:616522 DCUN1D5 skos:exactMatch ncbigene:84259 semapv:UnspecifiedMatching -OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:MFAP3L semapv:UnspecifiedMatching OMIM:616523 MFAP3L skos:exactMatch ncbigene:9848 semapv:UnspecifiedMatching -OMIM:616524 TMEM139 skos:exactMatch ncbigene:135932 semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:MFAP3L semapv:UnspecifiedMatching OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:TMEM139 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch ncbigene:135932 semapv:UnspecifiedMatching OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:SLC38A10 semapv:UnspecifiedMatching OMIM:616525 SLC38A10 skos:exactMatch ncbigene:124565 semapv:UnspecifiedMatching OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:SLC38A11 semapv:UnspecifiedMatching @@ -37627,9 +37631,9 @@ OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:SFR1 semapv:UnspecifiedMatching OMIM:616527 SFR1 skos:exactMatch ncbigene:119392 semapv:UnspecifiedMatching OMIM:616528 SWI5 skos:exactMatch ncbigene:375757 semapv:UnspecifiedMatching OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:SWI5 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:YTHDF1 semapv:UnspecifiedMatching OMIM:616529 YTHDF1 skos:exactMatch ncbigene:54915 semapv:UnspecifiedMatching OMIM:616529 YTHDF1 skos:exactMatch UMLS:C1538132 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:YTHDF1 semapv:UnspecifiedMatching OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:YTHDC2 semapv:UnspecifiedMatching OMIM:616530 YTHDC2 skos:exactMatch ncbigene:64848 semapv:UnspecifiedMatching OMIM:616533 DDX31 skos:exactMatch UMLS:C1424501 semapv:UnspecifiedMatching @@ -37637,40 +37641,40 @@ OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:DDX31 semapv:UnspecifiedMatching OMIM:616533 DDX31 skos:exactMatch ncbigene:64794 semapv:UnspecifiedMatching OMIM:616536 CST9L skos:exactMatch hgnc.symbol:CST9L semapv:UnspecifiedMatching OMIM:616536 CST9L skos:exactMatch ncbigene:128821 semapv:UnspecifiedMatching -OMIM:616537 VSTM2L skos:exactMatch ncbigene:128434 semapv:UnspecifiedMatching OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:VSTM2L semapv:UnspecifiedMatching -OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:GSX1 semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch ncbigene:128434 semapv:UnspecifiedMatching OMIM:616542 GSX1 skos:exactMatch ncbigene:219409 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:GSX1 semapv:UnspecifiedMatching OMIM:616543 CST9 skos:exactMatch hgnc.symbol:CST9 semapv:UnspecifiedMatching OMIM:616543 CST9 skos:exactMatch ncbigene:128822 semapv:UnspecifiedMatching OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:PRELID3A semapv:UnspecifiedMatching OMIM:616545 PRELID3A skos:exactMatch ncbigene:10650 semapv:UnspecifiedMatching OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:LYG2 semapv:UnspecifiedMatching OMIM:616547 LYG2 skos:exactMatch ncbigene:254773 semapv:UnspecifiedMatching -OMIM:616548 LYPLAL1 skos:exactMatch ncbigene:127018 semapv:UnspecifiedMatching OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:LYPLAL1 semapv:UnspecifiedMatching -OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:TMEM120A semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch ncbigene:127018 semapv:UnspecifiedMatching OMIM:616550 TMEM120A skos:exactMatch ncbigene:83862 semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:TMEM120A semapv:UnspecifiedMatching OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:TMEM120B semapv:UnspecifiedMatching OMIM:616551 TMEM120B skos:exactMatch ncbigene:144404 semapv:UnspecifiedMatching OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:CARNMT1 semapv:UnspecifiedMatching OMIM:616552 CARNMT1 skos:exactMatch ncbigene:138199 semapv:UnspecifiedMatching -OMIM:616554 SPAG17 skos:exactMatch ncbigene:200162 semapv:UnspecifiedMatching OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:SPAG17 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch ncbigene:200162 semapv:UnspecifiedMatching OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:LRRC37A semapv:UnspecifiedMatching OMIM:616555 LRRC37A skos:exactMatch ncbigene:9884 semapv:UnspecifiedMatching -OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:LRRC37A2 semapv:UnspecifiedMatching OMIM:616556 LRRC37A2 skos:exactMatch ncbigene:474170 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:LRRC37A2 semapv:UnspecifiedMatching OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:LRRC37A3 semapv:UnspecifiedMatching OMIM:616557 LRRC37A3 skos:exactMatch ncbigene:374819 semapv:UnspecifiedMatching OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:LRRC37B semapv:UnspecifiedMatching OMIM:616558 LRRC37B skos:exactMatch ncbigene:114659 semapv:UnspecifiedMatching -OMIM:616560 cd300h antigen skos:exactMatch ncbigene:100130520 semapv:UnspecifiedMatching OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:CD300H semapv:UnspecifiedMatching -OMIM:616561 RASAL3 skos:exactMatch ncbigene:64926 semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch ncbigene:100130520 semapv:UnspecifiedMatching OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:RASAL3 semapv:UnspecifiedMatching -OMIM:616563 SLK skos:exactMatch hgnc.symbol:SLK semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch ncbigene:64926 semapv:UnspecifiedMatching OMIM:616563 SLK skos:exactMatch ncbigene:9748 semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch hgnc.symbol:SLK semapv:UnspecifiedMatching OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:ANKRD30B semapv:UnspecifiedMatching OMIM:616565 ANKRD30B skos:exactMatch ncbigene:374860 semapv:UnspecifiedMatching OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:DAPK2 semapv:UnspecifiedMatching @@ -37687,8 +37691,8 @@ OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:MICOS10 semapv:UnspecifiedMatchi OMIM:616574 MICOS10 skos:exactMatch ncbigene:440574 semapv:UnspecifiedMatching OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:LENG8 semapv:UnspecifiedMatching OMIM:616575 LENG8 skos:exactMatch ncbigene:114823 semapv:UnspecifiedMatching -OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch UMLS:C4225276 semapv:UnspecifiedMatching OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:ZBTB1 semapv:UnspecifiedMatching @@ -37707,12 +37711,12 @@ OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:FAM118B semapv:UnspecifiedMatchi OMIM:616587 FAM118B skos:exactMatch ncbigene:79607 semapv:UnspecifiedMatching OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:DHFR2 semapv:UnspecifiedMatching OMIM:616588 DHFRL1 skos:exactMatch ncbigene:200895 semapv:UnspecifiedMatching -OMIM:616590 ZBTB5 skos:exactMatch ncbigene:9925 semapv:UnspecifiedMatching OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:ZBTB5 semapv:UnspecifiedMatching -OMIM:616591 ZBTB7C skos:exactMatch ncbigene:201501 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch ncbigene:9925 semapv:UnspecifiedMatching OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:ZBTB7C semapv:UnspecifiedMatching -OMIM:616592 kosaki overgrowth syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch ncbigene:201501 semapv:UnspecifiedMatching OMIM:616592 kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching +OMIM:616592 kosaki overgrowth syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching OMIM:616593 C1QTNF12 skos:exactMatch UMLS:C1823201 semapv:UnspecifiedMatching OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:C1QTNF12 semapv:UnspecifiedMatching OMIM:616593 C1QTNF12 skos:exactMatch ncbigene:388581 semapv:UnspecifiedMatching @@ -37728,8 +37732,8 @@ OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:ARL8A semapv:UnspecifiedMatching OMIM:616597 ARL8A skos:exactMatch ncbigene:127829 semapv:UnspecifiedMatching OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:BORCS5 semapv:UnspecifiedMatching OMIM:616598 BORCS5 skos:exactMatch ncbigene:118426 semapv:UnspecifiedMatching -OMIM:616599 BORCS6 skos:exactMatch ncbigene:54785 semapv:UnspecifiedMatching OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:BORCS6 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch ncbigene:54785 semapv:UnspecifiedMatching OMIM:616600 BORCS7 skos:exactMatch ncbigene:119032 semapv:UnspecifiedMatching OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:BORCS7 semapv:UnspecifiedMatching OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:BORCS8 semapv:UnspecifiedMatching @@ -37748,114 +37752,114 @@ OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:TMEM65 semapv:UnspecifiedMatching OMIM:616609 TMEM65 skos:exactMatch ncbigene:157378 semapv:UnspecifiedMatching OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:CASC15 semapv:UnspecifiedMatching OMIM:616610 CASC15 skos:exactMatch ncbigene:401237 semapv:UnspecifiedMatching -OMIM:616611 LINC00461 skos:exactMatch ncbigene:645323 semapv:UnspecifiedMatching OMIM:616611 LINC00461 skos:exactMatch hgnc.symbol:LINC00461 semapv:UnspecifiedMatching -OMIM:616612 COL6A4P2 skos:exactMatch ncbigene:646300 semapv:UnspecifiedMatching +OMIM:616611 LINC00461 skos:exactMatch ncbigene:645323 semapv:UnspecifiedMatching OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:COL6A4P2 semapv:UnspecifiedMatching -OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:COL6A6 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch ncbigene:646300 semapv:UnspecifiedMatching OMIM:616613 COL6A6 skos:exactMatch ncbigene:131873 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:COL6A6 semapv:UnspecifiedMatching OMIM:616614 HPF1 skos:exactMatch UMLS:C1824170 semapv:UnspecifiedMatching OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:HPF1 semapv:UnspecifiedMatching OMIM:616614 HPF1 skos:exactMatch ncbigene:54969 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:CSGALNACT1 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch ncbigene:55790 semapv:UnspecifiedMatching OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C2239313 semapv:UnspecifiedMatching OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:CSGALNACT1 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch ncbigene:55790 semapv:UnspecifiedMatching OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:CSGALNACT2 semapv:UnspecifiedMatching OMIM:616616 CSGALNACT2 skos:exactMatch ncbigene:55454 semapv:UnspecifiedMatching -OMIM:616617 heimler syndrome 2 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching OMIM:616617 heimler syndrome 2 skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:ACBD5 semapv:UnspecifiedMatching +OMIM:616617 heimler syndrome 2 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch UMLS:C1428043 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:ACBD5 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch ncbigene:91452 semapv:UnspecifiedMatching -OMIM:616619 DUBR skos:exactMatch ncbigene:344595 semapv:UnspecifiedMatching OMIM:616619 DUBR skos:exactMatch hgnc.symbol:DUBR semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch ncbigene:344595 semapv:UnspecifiedMatching OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:WDR12 semapv:UnspecifiedMatching OMIM:616620 WDR12 skos:exactMatch ncbigene:55759 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch ncbigene:55661 semapv:UnspecifiedMatching OMIM:616621 DDX27 skos:exactMatch UMLS:C1423765 semapv:UnspecifiedMatching OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:DDX27 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch ncbigene:55661 semapv:UnspecifiedMatching OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:FAM30A semapv:UnspecifiedMatching OMIM:616623 FAM30A skos:exactMatch ncbigene:9834 semapv:UnspecifiedMatching -OMIM:616624 NCBP3 skos:exactMatch ncbigene:55421 semapv:UnspecifiedMatching OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:NCBP3 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch ncbigene:55421 semapv:UnspecifiedMatching OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:CERCAM semapv:UnspecifiedMatching OMIM:616626 CERCAM skos:exactMatch ncbigene:51148 semapv:UnspecifiedMatching -OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:PODXL2 semapv:UnspecifiedMatching OMIM:616627 PODXL2 skos:exactMatch ncbigene:50512 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:PODXL2 semapv:UnspecifiedMatching OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:FAM220A semapv:UnspecifiedMatching OMIM:616628 FAM220A skos:exactMatch ncbigene:84792 semapv:UnspecifiedMatching OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:NRSN1 semapv:UnspecifiedMatching OMIM:616630 NRSN1 skos:exactMatch ncbigene:140767 semapv:UnspecifiedMatching OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:PRR12 semapv:UnspecifiedMatching OMIM:616633 PRR12 skos:exactMatch ncbigene:57479 semapv:UnspecifiedMatching -OMIM:616634 SNED1 skos:exactMatch ncbigene:25992 semapv:UnspecifiedMatching OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:SNED1 semapv:UnspecifiedMatching -OMIM:616635 CYHR1 skos:exactMatch hgnc.symbol:ZFTRAF1 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch ncbigene:25992 semapv:UnspecifiedMatching OMIM:616635 CYHR1 skos:exactMatch ncbigene:50626 semapv:UnspecifiedMatching -OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:TBC1D16 semapv:UnspecifiedMatching +OMIM:616635 CYHR1 skos:exactMatch hgnc.symbol:ZFTRAF1 semapv:UnspecifiedMatching OMIM:616637 TBC1D16 skos:exactMatch ncbigene:125058 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:TBC1D16 semapv:UnspecifiedMatching OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:PRDM8 semapv:UnspecifiedMatching OMIM:616639 PRDM8 skos:exactMatch ncbigene:56978 semapv:UnspecifiedMatching OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:RNF141 semapv:UnspecifiedMatching OMIM:616641 RNF141 skos:exactMatch ncbigene:50862 semapv:UnspecifiedMatching -OMIM:616642 C6ORF89 skos:exactMatch ncbigene:221477 semapv:UnspecifiedMatching OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:C6orf89 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch ncbigene:221477 semapv:UnspecifiedMatching OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:HDGFL3 semapv:UnspecifiedMatching OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch ncbigene:50810 semapv:UnspecifiedMatching -OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:CUZD1 semapv:UnspecifiedMatching OMIM:616644 CUZD1 skos:exactMatch ncbigene:50624 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:CUZD1 semapv:UnspecifiedMatching OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:KRT25 semapv:UnspecifiedMatching OMIM:616646 KRT25 skos:exactMatch ncbigene:147183 semapv:UnspecifiedMatching -OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching +OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:KATNIP semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch ncbigene:23247 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching OMIM:616653 PNISR skos:exactMatch hgnc.symbol:PNISR semapv:UnspecifiedMatching OMIM:616653 PNISR skos:exactMatch ncbigene:25957 semapv:UnspecifiedMatching OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:SIPA1L3 semapv:UnspecifiedMatching OMIM:616655 SIPA1L3 skos:exactMatch ncbigene:23094 semapv:UnspecifiedMatching -OMIM:616656 COMMD8 skos:exactMatch ncbigene:54951 semapv:UnspecifiedMatching OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:COMMD8 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch ncbigene:54951 semapv:UnspecifiedMatching OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching -OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:MICOS13 semapv:UnspecifiedMatching OMIM:616658 MICOS13 skos:exactMatch ncbigene:125988 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:MICOS13 semapv:UnspecifiedMatching OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:TBC1D17 semapv:UnspecifiedMatching OMIM:616659 TBC1D17 skos:exactMatch ncbigene:79735 semapv:UnspecifiedMatching OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:TMEM175 semapv:UnspecifiedMatching OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch ncbigene:84286 semapv:UnspecifiedMatching OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:MORC2 semapv:UnspecifiedMatching OMIM:616661 MORC2 skos:exactMatch ncbigene:22880 semapv:UnspecifiedMatching -OMIM:616662 THUMPD1 skos:exactMatch ncbigene:55623 semapv:UnspecifiedMatching OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:THUMPD1 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch UMLS:C1823074 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:SNORD118 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch ncbigene:55623 semapv:UnspecifiedMatching OMIM:616663 SNORD118 skos:exactMatch ncbigene:727676 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:SNORD118 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch UMLS:C1823074 semapv:UnspecifiedMatching OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:SNORD13 semapv:UnspecifiedMatching OMIM:616664 SNORD13 skos:exactMatch ncbigene:692084 semapv:UnspecifiedMatching OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:SYPL1 semapv:UnspecifiedMatching OMIM:616665 SYPL1 skos:exactMatch ncbigene:6856 semapv:UnspecifiedMatching -OMIM:616666 SEZ6 skos:exactMatch ncbigene:124925 semapv:UnspecifiedMatching OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:SEZ6 semapv:UnspecifiedMatching -OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:SEZ6L2 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch ncbigene:124925 semapv:UnspecifiedMatching OMIM:616667 SEZ6L2 skos:exactMatch ncbigene:26470 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:SEZ6L2 semapv:UnspecifiedMatching OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:ESYT1 semapv:UnspecifiedMatching OMIM:616670 ESYT1 skos:exactMatch ncbigene:23344 semapv:UnspecifiedMatching OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:KRT76 semapv:UnspecifiedMatching OMIM:616671 KRT76 skos:exactMatch ncbigene:51350 semapv:UnspecifiedMatching OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:SKA1 semapv:UnspecifiedMatching OMIM:616673 SKA1 skos:exactMatch ncbigene:220134 semapv:UnspecifiedMatching -OMIM:616674 SKA2 skos:exactMatch ncbigene:348235 semapv:UnspecifiedMatching OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:SKA2 semapv:UnspecifiedMatching -OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:KRT26 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch ncbigene:348235 semapv:UnspecifiedMatching OMIM:616675 KRT26 skos:exactMatch ncbigene:353288 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:KRT26 semapv:UnspecifiedMatching OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:KRT27 semapv:UnspecifiedMatching OMIM:616676 KRT27 skos:exactMatch ncbigene:342574 semapv:UnspecifiedMatching OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:KRT28 semapv:UnspecifiedMatching @@ -37864,81 +37868,81 @@ OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:KRT39 semapv:UnspecifiedMatching OMIM:616678 KRT39 skos:exactMatch ncbigene:390792 semapv:UnspecifiedMatching OMIM:616679 KRT40 skos:exactMatch ncbigene:125115 semapv:UnspecifiedMatching OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:KRT40 semapv:UnspecifiedMatching -OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching OMIM:616686 SYNCRIP skos:exactMatch ncbigene:10492 semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:CEP104 semapv:UnspecifiedMatching OMIM:616690 CEP104 skos:exactMatch ncbigene:9731 semapv:UnspecifiedMatching OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:ESYT2 semapv:UnspecifiedMatching OMIM:616691 ESYT2 skos:exactMatch ncbigene:57488 semapv:UnspecifiedMatching -OMIM:616692 ESYT3 skos:exactMatch ncbigene:83850 semapv:UnspecifiedMatching OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:ESYT3 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch ncbigene:51802 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch ncbigene:83850 semapv:UnspecifiedMatching OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:ASIC5 semapv:UnspecifiedMatching OMIM:616693 ASIC5 skos:exactMatch UMLS:C3469621 semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch UMLS:C1428777 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch ncbigene:51802 semapv:UnspecifiedMatching OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:ECPAS semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch UMLS:C1428777 semapv:UnspecifiedMatching OMIM:616694 ECPAS skos:exactMatch ncbigene:23392 semapv:UnspecifiedMatching -OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:STYXL1 semapv:UnspecifiedMatching OMIM:616695 STYXL1 skos:exactMatch ncbigene:51657 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:STYXL1 semapv:UnspecifiedMatching OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:KIAA0040 semapv:UnspecifiedMatching OMIM:616696 KIAA0040 skos:exactMatch ncbigene:9674 semapv:UnspecifiedMatching -OMIM:616698 ZNF593 skos:exactMatch ncbigene:51042 semapv:UnspecifiedMatching OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:ZNF593 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch ncbigene:51042 semapv:UnspecifiedMatching OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:COMMD2 semapv:UnspecifiedMatching OMIM:616699 COMMD2 skos:exactMatch ncbigene:51122 semapv:UnspecifiedMatching -OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:COMMD3 semapv:UnspecifiedMatching OMIM:616700 COMMD3 skos:exactMatch ncbigene:23412 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:COMMD3 semapv:UnspecifiedMatching OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:COMMD4 semapv:UnspecifiedMatching OMIM:616701 COMMD4 skos:exactMatch ncbigene:54939 semapv:UnspecifiedMatching OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:ZNF589 semapv:UnspecifiedMatching OMIM:616702 ZNF589 skos:exactMatch ncbigene:51385 semapv:UnspecifiedMatching -OMIM:616703 COMMD7 skos:exactMatch ncbigene:149951 semapv:UnspecifiedMatching OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:COMMD7 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch ncbigene:149951 semapv:UnspecifiedMatching OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:COMMD10 semapv:UnspecifiedMatching OMIM:616704 COMMD10 skos:exactMatch ncbigene:51397 semapv:UnspecifiedMatching -OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:PARP11 semapv:UnspecifiedMatching OMIM:616706 PARP11 skos:exactMatch ncbigene:57097 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:PARP11 semapv:UnspecifiedMatching OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching OMIM:616708 desanto-shinawi syndrome skos:exactMatch UMLS:C4225239 semapv:UnspecifiedMatching OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching -OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:A4GNT semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching OMIM:616709 A4GNT skos:exactMatch ncbigene:51146 semapv:UnspecifiedMatching -OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:TAOK3 semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:A4GNT semapv:UnspecifiedMatching OMIM:616711 TAOK3 skos:exactMatch ncbigene:51347 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:STARD7 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:TAOK3 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch UMLS:C1425274 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:STARD7 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch ncbigene:56910 semapv:UnspecifiedMatching OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:PIPOX semapv:UnspecifiedMatching OMIM:616713 PIPOX skos:exactMatch ncbigene:51268 semapv:UnspecifiedMatching OMIM:616714 HBP1 skos:exactMatch ncbigene:26959 semapv:UnspecifiedMatching OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:HBP1 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch UMLS:C2680492 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:TMX2 semapv:UnspecifiedMatching OMIM:616715 TMX2 skos:exactMatch ncbigene:51075 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch UMLS:C2680492 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:TEX10 semapv:UnspecifiedMatching OMIM:616717 TEX10 skos:exactMatch ncbigene:54881 semapv:UnspecifiedMatching OMIM:616718 NGRN skos:exactMatch hgnc.symbol:NGRN semapv:UnspecifiedMatching OMIM:616718 NGRN skos:exactMatch ncbigene:51335 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch ncbigene:91351 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:DDX60L semapv:UnspecifiedMatching OMIM:616725 DDX60L skos:exactMatch UMLS:C2239343 semapv:UnspecifiedMatching -OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:PHF21B semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:DDX60L semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch ncbigene:91351 semapv:UnspecifiedMatching OMIM:616727 PHF21B skos:exactMatch ncbigene:112885 semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:PHF21B semapv:UnspecifiedMatching OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch UMLS:C4225229 semapv:UnspecifiedMatching OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:OR2W3 semapv:UnspecifiedMatching OMIM:616729 OR2W3 skos:exactMatch ncbigene:343171 semapv:UnspecifiedMatching OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:NEK5 semapv:UnspecifiedMatching OMIM:616731 NEK5 skos:exactMatch ncbigene:341676 semapv:UnspecifiedMatching -OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch ncbigene:51244 semapv:UnspecifiedMatching OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:CCDC174 semapv:UnspecifiedMatching -OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch ncbigene:51244 semapv:UnspecifiedMatching OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching +OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching OMIM:616741 PRDM13 skos:exactMatch UMLS:C1422335 semapv:UnspecifiedMatching OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:PRDM13 semapv:UnspecifiedMatching OMIM:616741 PRDM13 skos:exactMatch ncbigene:59336 semapv:UnspecifiedMatching @@ -37948,72 +37952,72 @@ OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:RGL3 semapv:UnspecifiedMatching OMIM:616743 RGL3 skos:exactMatch ncbigene:57139 semapv:UnspecifiedMatching OMIM:616745 BOD1 skos:exactMatch ncbigene:91272 semapv:UnspecifiedMatching OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:BOD1 semapv:UnspecifiedMatching -OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:BOD1L1 semapv:UnspecifiedMatching OMIM:616746 BOD1L1 skos:exactMatch ncbigene:259282 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:BOD1L1 semapv:UnspecifiedMatching OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:CHPT1 semapv:UnspecifiedMatching OMIM:616747 CHPT1 skos:exactMatch ncbigene:56994 semapv:UnspecifiedMatching OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:ENTPD8 semapv:UnspecifiedMatching OMIM:616748 ENTPD8 skos:exactMatch ncbigene:377841 semapv:UnspecifiedMatching OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:ZDHHC16 semapv:UnspecifiedMatching OMIM:616750 ZDHHC16 skos:exactMatch ncbigene:84287 semapv:UnspecifiedMatching -OMIM:616751 CEPT1 skos:exactMatch ncbigene:10390 semapv:UnspecifiedMatching OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:CEPT1 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch ncbigene:10390 semapv:UnspecifiedMatching OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:NSG2 semapv:UnspecifiedMatching OMIM:616752 NSG2 skos:exactMatch ncbigene:51617 semapv:UnspecifiedMatching -OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:ENTPD7 semapv:UnspecifiedMatching OMIM:616753 ENTPD7 skos:exactMatch ncbigene:57089 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:ENTPD7 semapv:UnspecifiedMatching OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:TRIM62 semapv:UnspecifiedMatching OMIM:616755 TRIM62 skos:exactMatch ncbigene:55223 semapv:UnspecifiedMatching OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:TMEM150A semapv:UnspecifiedMatching OMIM:616757 TMEM150A skos:exactMatch ncbigene:129303 semapv:UnspecifiedMatching -OMIM:616758 KDF1 skos:exactMatch ncbigene:126695 semapv:UnspecifiedMatching OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:KDF1 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch ncbigene:126695 semapv:UnspecifiedMatching OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:NOSIP semapv:UnspecifiedMatching OMIM:616759 NOSIP skos:exactMatch ncbigene:51070 semapv:UnspecifiedMatching -OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:SUSD6 semapv:UnspecifiedMatching OMIM:616761 SUSD6 skos:exactMatch ncbigene:9766 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:SUSD6 semapv:UnspecifiedMatching OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:CCSAP semapv:UnspecifiedMatching OMIM:616762 CCSAP skos:exactMatch ncbigene:126731 semapv:UnspecifiedMatching -OMIM:616764 SLC46A3 skos:exactMatch ncbigene:283537 semapv:UnspecifiedMatching OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:SLC46A3 semapv:UnspecifiedMatching -OMIM:616765 SAMD11 skos:exactMatch ncbigene:148398 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch ncbigene:283537 semapv:UnspecifiedMatching OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:SAMD11 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch ncbigene:148398 semapv:UnspecifiedMatching OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:TMX4 semapv:UnspecifiedMatching OMIM:616766 TMX4 skos:exactMatch ncbigene:56255 semapv:UnspecifiedMatching -OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:CAPNS2 semapv:UnspecifiedMatching OMIM:616767 CAPNS2 skos:exactMatch ncbigene:84290 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:CAPNS2 semapv:UnspecifiedMatching OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:TUBB8 semapv:UnspecifiedMatching OMIM:616768 TUBB8 skos:exactMatch ncbigene:347688 semapv:UnspecifiedMatching OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:NIT2 semapv:UnspecifiedMatching OMIM:616769 NIT2 skos:exactMatch ncbigene:56954 semapv:UnspecifiedMatching -OMIM:616770 MIR218-1 skos:exactMatch ncbigene:407000 semapv:UnspecifiedMatching OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:MIR218-1 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch ncbigene:407000 semapv:UnspecifiedMatching OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:MIR218-2 semapv:UnspecifiedMatching OMIM:616771 MIR218-2 skos:exactMatch ncbigene:407001 semapv:UnspecifiedMatching -OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:MAN1C1 semapv:UnspecifiedMatching OMIM:616772 MAN1C1 skos:exactMatch ncbigene:57134 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:MAN1C1 semapv:UnspecifiedMatching OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:MIGA1 semapv:UnspecifiedMatching OMIM:616773 MIGA1 skos:exactMatch ncbigene:374986 semapv:UnspecifiedMatching OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:MIGA2 semapv:UnspecifiedMatching OMIM:616774 MIGA2 skos:exactMatch ncbigene:84895 semapv:UnspecifiedMatching -OMIM:616775 ZNF683 skos:exactMatch ncbigene:257101 semapv:UnspecifiedMatching OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:ZNF683 semapv:UnspecifiedMatching -OMIM:616776 DUSP15 skos:exactMatch ncbigene:128853 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch ncbigene:257101 semapv:UnspecifiedMatching OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:DUSP15 semapv:UnspecifiedMatching -OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:DUSP22 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch ncbigene:128853 semapv:UnspecifiedMatching OMIM:616778 DUSP22 skos:exactMatch ncbigene:56940 semapv:UnspecifiedMatching -OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:GCNT4 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:DUSP22 semapv:UnspecifiedMatching OMIM:616782 GCNT4 skos:exactMatch ncbigene:51301 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:GCNT4 semapv:UnspecifiedMatching OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:UBXN10 semapv:UnspecifiedMatching OMIM:616783 UBXN10 skos:exactMatch ncbigene:127733 semapv:UnspecifiedMatching OMIM:616784 joubert syndrome 26 skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching OMIM:616784 joubert syndrome 26 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:PHTF2 semapv:UnspecifiedMatching OMIM:616785 PHTF2 skos:exactMatch ncbigene:57157 semapv:UnspecifiedMatching -OMIM:616786 MAPKBP1 skos:exactMatch ncbigene:23005 semapv:UnspecifiedMatching OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:MAPKBP1 semapv:UnspecifiedMatching -OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:CLUAP1 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch ncbigene:23005 semapv:UnspecifiedMatching OMIM:616787 CLUAP1 skos:exactMatch ncbigene:23059 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:CLUAP1 semapv:UnspecifiedMatching OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:PPP4R4 semapv:UnspecifiedMatching OMIM:616790 PPP4R4 skos:exactMatch ncbigene:57718 semapv:UnspecifiedMatching OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:PGBD5 semapv:UnspecifiedMatching @@ -38022,179 +38026,179 @@ OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:PLA2G2F semapv:UnspecifiedMatchi OMIM:616793 PLA2G2F skos:exactMatch ncbigene:64600 semapv:UnspecifiedMatching OMIM:616796 RDH14 skos:exactMatch ncbigene:57665 semapv:UnspecifiedMatching OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:RDH14 semapv:UnspecifiedMatching -OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:EFR3B semapv:UnspecifiedMatching OMIM:616797 EFR3B skos:exactMatch ncbigene:22979 semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:EFR3B semapv:UnspecifiedMatching OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:ZFP28 semapv:UnspecifiedMatching OMIM:616798 ZFP28 skos:exactMatch ncbigene:140612 semapv:UnspecifiedMatching OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:SYCP2L semapv:UnspecifiedMatching OMIM:616799 SYCP2L skos:exactMatch ncbigene:221711 semapv:UnspecifiedMatching OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:LOXL1-AS1 semapv:UnspecifiedMatching OMIM:616800 LOXL1AS1 skos:exactMatch ncbigene:100287616 semapv:UnspecifiedMatching -OMIM:616802 TARM1 skos:exactMatch ncbigene:441864 semapv:UnspecifiedMatching OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:TARM1 semapv:UnspecifiedMatching -OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:VSTM1 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch ncbigene:441864 semapv:UnspecifiedMatching OMIM:616804 VSTM1 skos:exactMatch ncbigene:284415 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:VSTM1 semapv:UnspecifiedMatching OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:MYCT1 semapv:UnspecifiedMatching OMIM:616805 MYCT1 skos:exactMatch ncbigene:80177 semapv:UnspecifiedMatching OMIM:616806 wilms tumor 6 skos:exactMatch UMLS:C3891301 semapv:UnspecifiedMatching OMIM:616806 wilms tumor 6 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching -OMIM:616807 FBF1 skos:exactMatch ncbigene:85302 semapv:UnspecifiedMatching OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:FBF1 semapv:UnspecifiedMatching -OMIM:616808 SHFL skos:exactMatch ncbigene:55337 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch ncbigene:85302 semapv:UnspecifiedMatching OMIM:616808 SHFL skos:exactMatch hgnc.symbol:SHFL semapv:UnspecifiedMatching -OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:IGDCC4 semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch ncbigene:55337 semapv:UnspecifiedMatching OMIM:616810 IGDCC4 skos:exactMatch ncbigene:57722 semapv:UnspecifiedMatching -OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:AGAP3 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:IGDCC4 semapv:UnspecifiedMatching OMIM:616813 AGAP3 skos:exactMatch ncbigene:116988 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:AGAP3 semapv:UnspecifiedMatching OMIM:616814 preimplantation embryonic lethality 1 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:TMEM199 semapv:UnspecifiedMatching OMIM:616815 TMEM199 skos:exactMatch ncbigene:147007 semapv:UnspecifiedMatching OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:MTHFSD semapv:UnspecifiedMatching OMIM:616820 MTHFSD skos:exactMatch ncbigene:64779 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch ncbigene:55901 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:THSD1 semapv:UnspecifiedMatching OMIM:616821 THSD1 skos:exactMatch UMLS:C1425063 semapv:UnspecifiedMatching OMIM:616821 THSD1 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:THSD1 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch ncbigene:55901 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch ncbigene:23041 semapv:UnspecifiedMatching OMIM:616822 MON2 skos:exactMatch UMLS:C1826264 semapv:UnspecifiedMatching OMIM:616822 MON2 skos:exactMatch hgnc.symbol:MON2 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch ncbigene:23041 semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch ncbigene:23033 semapv:UnspecifiedMatching OMIM:616823 DOP1A skos:exactMatch UMLS:C1824958 semapv:UnspecifiedMatching OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:DOP1A semapv:UnspecifiedMatching -OMIM:616824 TRNP1 skos:exactMatch ncbigene:388610 semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch ncbigene:23033 semapv:UnspecifiedMatching OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:TRNP1 semapv:UnspecifiedMatching -OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:NCOA5 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch ncbigene:388610 semapv:UnspecifiedMatching OMIM:616825 NCOA5 skos:exactMatch ncbigene:57727 semapv:UnspecifiedMatching -OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:EPS15L1 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:NCOA5 semapv:UnspecifiedMatching OMIM:616826 EPS15L1 skos:exactMatch ncbigene:58513 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:EPS15L1 semapv:UnspecifiedMatching OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:TANGO2 semapv:UnspecifiedMatching OMIM:616830 TANGO2 skos:exactMatch ncbigene:128989 semapv:UnspecifiedMatching OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:MYOM3 semapv:UnspecifiedMatching OMIM:616832 MYOM3 skos:exactMatch ncbigene:127294 semapv:UnspecifiedMatching -OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching +OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:GPATCH2 semapv:UnspecifiedMatching OMIM:616836 GPATCH2 skos:exactMatch ncbigene:55105 semapv:UnspecifiedMatching OMIM:616837 human pluripotency-associated transcript 5, noncoding skos:exactMatch ncbigene:112590798 semapv:UnspecifiedMatching -OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:CLEC17A semapv:UnspecifiedMatching OMIM:616838 CLEC17A skos:exactMatch ncbigene:388512 semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:CLEC17A semapv:UnspecifiedMatching OMIM:616839 exercise intolerance, riboflavin-responsive skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching -OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch UMLS:C4225186 semapv:UnspecifiedMatching -OMIM:616841 ZNF468 skos:exactMatch ncbigene:90333 semapv:UnspecifiedMatching +OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:ZNF468 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch ncbigene:90333 semapv:UnspecifiedMatching OMIM:616842 DHS6S1 skos:exactMatch ncbigene:111365204 semapv:UnspecifiedMatching OMIM:616843 lymphatic malformation 6 skos:exactMatch UMLS:C4225184 semapv:UnspecifiedMatching -OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:DNAJC17 semapv:UnspecifiedMatching OMIM:616844 DNAJC17 skos:exactMatch ncbigene:55192 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:DNAJC17 semapv:UnspecifiedMatching OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:CLEC14A semapv:UnspecifiedMatching OMIM:616845 CLEC14A skos:exactMatch ncbigene:161198 semapv:UnspecifiedMatching OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:EMC1 semapv:UnspecifiedMatching OMIM:616846 EMC1 skos:exactMatch ncbigene:23065 semapv:UnspecifiedMatching -OMIM:616847 ZNF543 skos:exactMatch ncbigene:125919 semapv:UnspecifiedMatching OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:ZNF543 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch ncbigene:125919 semapv:UnspecifiedMatching OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:MIER1 semapv:UnspecifiedMatching OMIM:616848 MIER1 skos:exactMatch ncbigene:57708 semapv:UnspecifiedMatching -OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:WDR83 semapv:UnspecifiedMatching OMIM:616850 WDR83 skos:exactMatch ncbigene:84292 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:WDR83 semapv:UnspecifiedMatching OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:FAM72C semapv:UnspecifiedMatching OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch ncbigene:554282 semapv:UnspecifiedMatching OMIM:616855 COX8C skos:exactMatch hgnc.symbol:COX8C semapv:UnspecifiedMatching OMIM:616855 COX8C skos:exactMatch ncbigene:341947 semapv:UnspecifiedMatching -OMIM:616856 BRPF3 skos:exactMatch ncbigene:27154 semapv:UnspecifiedMatching OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:BRPF3 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch ncbigene:27154 semapv:UnspecifiedMatching OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:CLCA4 semapv:UnspecifiedMatching OMIM:616857 CLCA4 skos:exactMatch ncbigene:22802 semapv:UnspecifiedMatching -OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching +OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:SLC12A9 semapv:UnspecifiedMatching OMIM:616861 SLC12A9 skos:exactMatch ncbigene:56996 semapv:UnspecifiedMatching -OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:RPL34 semapv:UnspecifiedMatching -OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching OMIM:616863 hao-fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching -OMIM:616864 HEXD skos:exactMatch hgnc.symbol:HEXD semapv:UnspecifiedMatching +OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching OMIM:616864 HEXD skos:exactMatch ncbigene:284004 semapv:UnspecifiedMatching -OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:PAPOLG semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch hgnc.symbol:HEXD semapv:UnspecifiedMatching OMIM:616865 PAPOLG skos:exactMatch ncbigene:64895 semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:PAPOLG semapv:UnspecifiedMatching OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C1849101 semapv:UnspecifiedMatching OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C4225177 semapv:UnspecifiedMatching OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching -OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching +OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:CNEP1R1 semapv:UnspecifiedMatching OMIM:616869 CNEP1R1 skos:exactMatch ncbigene:255919 semapv:UnspecifiedMatching -OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:TMEM14A semapv:UnspecifiedMatching OMIM:616870 TMEM14A skos:exactMatch ncbigene:28978 semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:TMEM14A semapv:UnspecifiedMatching OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch UMLS:C4225174 semapv:UnspecifiedMatching OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:TM9SF3 semapv:UnspecifiedMatching OMIM:616872 TM9SF3 skos:exactMatch ncbigene:56889 semapv:UnspecifiedMatching -OMIM:616874 TMBIM4 skos:exactMatch ncbigene:51643 semapv:UnspecifiedMatching OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:TMBIM4 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch ncbigene:51643 semapv:UnspecifiedMatching OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:TMED5 semapv:UnspecifiedMatching OMIM:616876 TMED5 skos:exactMatch ncbigene:50999 semapv:UnspecifiedMatching -OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:TMEM9 semapv:UnspecifiedMatching OMIM:616877 TMEM9 skos:exactMatch ncbigene:252839 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:TMEM9 semapv:UnspecifiedMatching OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:TBC1D22A semapv:UnspecifiedMatching OMIM:616879 TBC1D22A skos:exactMatch ncbigene:25771 semapv:UnspecifiedMatching OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:TBC1D22B semapv:UnspecifiedMatching OMIM:616880 TBC1D22B skos:exactMatch ncbigene:55633 semapv:UnspecifiedMatching -OMIM:616883 SRPRB skos:exactMatch ncbigene:58477 semapv:UnspecifiedMatching OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:SRPRB semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch ncbigene:58477 semapv:UnspecifiedMatching OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:UNC79 semapv:UnspecifiedMatching OMIM:616884 UNC79 skos:exactMatch ncbigene:57578 semapv:UnspecifiedMatching -OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:CARHSP1 semapv:UnspecifiedMatching OMIM:616885 CARHSP1 skos:exactMatch ncbigene:23589 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:CARHSP1 semapv:UnspecifiedMatching OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:GSE1 semapv:UnspecifiedMatching OMIM:616886 GSE1 skos:exactMatch ncbigene:23199 semapv:UnspecifiedMatching -OMIM:616888 TMEM8B skos:exactMatch ncbigene:51754 semapv:UnspecifiedMatching OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:TMEM8B semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch ncbigene:51754 semapv:UnspecifiedMatching OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:CEP68 semapv:UnspecifiedMatching OMIM:616889 CEP68 skos:exactMatch ncbigene:23177 semapv:UnspecifiedMatching OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:STRIT1 semapv:UnspecifiedMatching OMIM:616891 STRIT1 skos:exactMatch ncbigene:100507537 semapv:UnspecifiedMatching -OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:616895 SAMMSON skos:exactMatch ncbigene:101927152 semapv:UnspecifiedMatching +OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:SAMMSON semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch ncbigene:101927152 semapv:UnspecifiedMatching OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch UMLS:C4225163 semapv:UnspecifiedMatching -OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch UMLS:C4225162 semapv:UnspecifiedMatching -OMIM:616899 TBCK skos:exactMatch ncbigene:93627 semapv:UnspecifiedMatching +OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching OMIM:616899 TBCK skos:exactMatch hgnc.symbol:TBCK semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch ncbigene:93627 semapv:UnspecifiedMatching OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:DOCK5 semapv:UnspecifiedMatching OMIM:616904 DOCK5 skos:exactMatch ncbigene:80005 semapv:UnspecifiedMatching -OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:MRFAP1 semapv:UnspecifiedMatching OMIM:616905 MRFAP1 skos:exactMatch ncbigene:93621 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:MRFAP1 semapv:UnspecifiedMatching OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:DNAI7 semapv:UnspecifiedMatching OMIM:616906 CASC1 skos:exactMatch ncbigene:55259 semapv:UnspecifiedMatching OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:PTCHD4 semapv:UnspecifiedMatching OMIM:616908 PTCHD4 skos:exactMatch ncbigene:442213 semapv:UnspecifiedMatching -OMIM:616909 CCDC68 skos:exactMatch ncbigene:80323 semapv:UnspecifiedMatching OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:CCDC68 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch ncbigene:80323 semapv:UnspecifiedMatching OMIM:616912 EVL skos:exactMatch hgnc.symbol:EVL semapv:UnspecifiedMatching OMIM:616912 EVL skos:exactMatch ncbigene:51466 semapv:UnspecifiedMatching -OMIM:616915 ZEB1AS1 skos:exactMatch hgnc.symbol:ZEB1-AS1 semapv:UnspecifiedMatching OMIM:616915 ZEB1AS1 skos:exactMatch ncbigene:220930 semapv:UnspecifiedMatching +OMIM:616915 ZEB1AS1 skos:exactMatch hgnc.symbol:ZEB1-AS1 semapv:UnspecifiedMatching OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:SMAP2 semapv:UnspecifiedMatching OMIM:616916 SMAP2 skos:exactMatch ncbigene:64744 semapv:UnspecifiedMatching -OMIM:616918 PIGG skos:exactMatch ncbigene:54872 semapv:UnspecifiedMatching OMIM:616918 PIGG skos:exactMatch hgnc.symbol:PIGG semapv:UnspecifiedMatching -OMIM:616919 FRMPD1 skos:exactMatch ncbigene:22844 semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch ncbigene:54872 semapv:UnspecifiedMatching OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:FRMPD1 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch ncbigene:22844 semapv:UnspecifiedMatching OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:RNF207 semapv:UnspecifiedMatching OMIM:616923 RNF207 skos:exactMatch ncbigene:388591 semapv:UnspecifiedMatching -OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:DHRS4-AS1 semapv:UnspecifiedMatching OMIM:616925 DHRS4AS1 skos:exactMatch ncbigene:55449 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:DHRS4-AS1 semapv:UnspecifiedMatching OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:FXYD4 semapv:UnspecifiedMatching OMIM:616926 FXYD4 skos:exactMatch ncbigene:53828 semapv:UnspecifiedMatching OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:EXOC3L2 semapv:UnspecifiedMatching OMIM:616927 EXOC3L2 skos:exactMatch ncbigene:90332 semapv:UnspecifiedMatching -OMIM:616928 TMEM45A skos:exactMatch ncbigene:55076 semapv:UnspecifiedMatching OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:TMEM45A semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch ncbigene:55076 semapv:UnspecifiedMatching OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:MTERF2 semapv:UnspecifiedMatching OMIM:616929 MTERF2 skos:exactMatch ncbigene:80298 semapv:UnspecifiedMatching OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:MTERF3 semapv:UnspecifiedMatching @@ -38203,283 +38207,283 @@ OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:FUT10 semapv:UnspecifiedMatching OMIM:616931 FUT10 skos:exactMatch ncbigene:84750 semapv:UnspecifiedMatching OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:FUT11 semapv:UnspecifiedMatching OMIM:616932 FUT11 skos:exactMatch ncbigene:170384 semapv:UnspecifiedMatching -OMIM:616933 FYTTD1 skos:exactMatch ncbigene:84248 semapv:UnspecifiedMatching OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:FYTTD1 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch ncbigene:84248 semapv:UnspecifiedMatching OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:MEIOC semapv:UnspecifiedMatching OMIM:616934 MEIOC skos:exactMatch ncbigene:284071 semapv:UnspecifiedMatching -OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:FAF2 semapv:UnspecifiedMatching OMIM:616935 FAF2 skos:exactMatch ncbigene:23197 semapv:UnspecifiedMatching -OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:CHD9 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:FAF2 semapv:UnspecifiedMatching OMIM:616936 CHD9 skos:exactMatch ncbigene:80205 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:CHD9 semapv:UnspecifiedMatching OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:EXD2 semapv:UnspecifiedMatching OMIM:616940 EXD2 skos:exactMatch ncbigene:55218 semapv:UnspecifiedMatching -OMIM:616942 PDIA5 skos:exactMatch ncbigene:10954 semapv:UnspecifiedMatching OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:PDIA5 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch ncbigene:10954 semapv:UnspecifiedMatching OMIM:616944 intellectual developmental disorder, autosomal dominant 41 skos:exactMatch UMLS:C4310784 semapv:UnspecifiedMatching OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:CLVS2 semapv:UnspecifiedMatching OMIM:616945 CLVS2 skos:exactMatch ncbigene:134829 semapv:UnspecifiedMatching OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:MTSS2 semapv:UnspecifiedMatching OMIM:616951 MTSS2 skos:exactMatch ncbigene:92154 semapv:UnspecifiedMatching -OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:MCUR1 semapv:UnspecifiedMatching OMIM:616952 MCUR1 skos:exactMatch ncbigene:63933 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:MCUR1 semapv:UnspecifiedMatching OMIM:616953 CUTA skos:exactMatch hgnc.symbol:CUTA semapv:UnspecifiedMatching OMIM:616953 CUTA skos:exactMatch ncbigene:51596 semapv:UnspecifiedMatching -OMIM:616955 REM2 skos:exactMatch ncbigene:161253 semapv:UnspecifiedMatching OMIM:616955 REM2 skos:exactMatch hgnc.symbol:REM2 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch ncbigene:161253 semapv:UnspecifiedMatching OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:TPPP2 semapv:UnspecifiedMatching OMIM:616956 TPPP2 skos:exactMatch ncbigene:122664 semapv:UnspecifiedMatching OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:TPPP3 semapv:UnspecifiedMatching OMIM:616957 TPPP3 skos:exactMatch ncbigene:51673 semapv:UnspecifiedMatching -OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:GIMAP6 semapv:UnspecifiedMatching OMIM:616960 GIMAP6 skos:exactMatch ncbigene:474344 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:GIMAP6 semapv:UnspecifiedMatching OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:GIMAP7 semapv:UnspecifiedMatching OMIM:616961 GIMAP7 skos:exactMatch ncbigene:168537 semapv:UnspecifiedMatching -OMIM:616962 GIMAP8 skos:exactMatch ncbigene:155038 semapv:UnspecifiedMatching OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:GIMAP8 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch ncbigene:155038 semapv:UnspecifiedMatching OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch UMLS:C4310473 semapv:UnspecifiedMatching OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching -OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:ADGRG5 semapv:UnspecifiedMatching OMIM:616965 ADGRG5 skos:exactMatch ncbigene:221188 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch UMLS:C1427543 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:ABHD6 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:ADGRG5 semapv:UnspecifiedMatching OMIM:616966 ABHD6 skos:exactMatch ncbigene:57406 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:ABHD6 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch UMLS:C1427543 semapv:UnspecifiedMatching OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:TXNDC17 semapv:UnspecifiedMatching OMIM:616967 TXNDC17 skos:exactMatch ncbigene:84817 semapv:UnspecifiedMatching -OMIM:616970 MARVELD1 skos:exactMatch ncbigene:83742 semapv:UnspecifiedMatching OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:MARVELD1 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch ncbigene:83742 semapv:UnspecifiedMatching OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:ERGIC3 semapv:UnspecifiedMatching OMIM:616971 ERGIC3 skos:exactMatch ncbigene:51614 semapv:UnspecifiedMatching -OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:MIR490 semapv:UnspecifiedMatching OMIM:616972 MIR490 skos:exactMatch ncbigene:574443 semapv:UnspecifiedMatching -OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:TRIM40 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:MIR490 semapv:UnspecifiedMatching OMIM:616976 TRIM40 skos:exactMatch ncbigene:135644 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:TRIM40 semapv:UnspecifiedMatching OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:CHCHD5 semapv:UnspecifiedMatching OMIM:616978 CHCHD5 skos:exactMatch ncbigene:84269 semapv:UnspecifiedMatching -OMIM:616979 DTHD1 skos:exactMatch ncbigene:401124 semapv:UnspecifiedMatching OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:DTHD1 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch ncbigene:401124 semapv:UnspecifiedMatching OMIM:616980 CYREN skos:exactMatch hgnc.symbol:CYREN semapv:UnspecifiedMatching OMIM:616980 CYREN skos:exactMatch ncbigene:78996 semapv:UnspecifiedMatching OMIM:616981 developmental and epileptic encephalopathy 37 skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:PRDM6 semapv:UnspecifiedMatching OMIM:616982 PRDM6 skos:exactMatch ncbigene:93166 semapv:UnspecifiedMatching -OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:ENPP6 semapv:UnspecifiedMatching OMIM:616983 ENPP6 skos:exactMatch ncbigene:133121 semapv:UnspecifiedMatching -OMIM:616984 NPVF skos:exactMatch ncbigene:64111 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:ENPP6 semapv:UnspecifiedMatching OMIM:616984 NPVF skos:exactMatch hgnc.symbol:NPVF semapv:UnspecifiedMatching -OMIM:616985 MTRNR2L1 skos:exactMatch ncbigene:100462977 semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch ncbigene:64111 semapv:UnspecifiedMatching OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:MTRNR2L1 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch ncbigene:100462977 semapv:UnspecifiedMatching OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:C6orf120 semapv:UnspecifiedMatching OMIM:616987 C6ORF120 skos:exactMatch ncbigene:387263 semapv:UnspecifiedMatching OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:CLLU1 semapv:UnspecifiedMatching OMIM:616988 CLLU1 skos:exactMatch ncbigene:574028 semapv:UnspecifiedMatching -OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:CLLU1-AS1 semapv:UnspecifiedMatching OMIM:616989 CLLU1OS skos:exactMatch ncbigene:574016 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:CLLU1-AS1 semapv:UnspecifiedMatching OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:CLUL1 semapv:UnspecifiedMatching OMIM:616990 CLUL1 skos:exactMatch ncbigene:27098 semapv:UnspecifiedMatching -OMIM:616991 MUC21 skos:exactMatch ncbigene:394263 semapv:UnspecifiedMatching OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:MUC21 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch ncbigene:394263 semapv:UnspecifiedMatching OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:C8orf17 semapv:UnspecifiedMatching OMIM:616992 C8ORF17 skos:exactMatch ncbigene:100507249 semapv:UnspecifiedMatching OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:TMEM243 semapv:UnspecifiedMatching OMIM:616993 TMEM243 skos:exactMatch ncbigene:79161 semapv:UnspecifiedMatching -OMIM:616995 CIPC skos:exactMatch hgnc.symbol:CIPC semapv:UnspecifiedMatching OMIM:616995 CIPC skos:exactMatch ncbigene:85457 semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch hgnc.symbol:CIPC semapv:UnspecifiedMatching OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:TRIM56 semapv:UnspecifiedMatching OMIM:616996 TRIM56 skos:exactMatch ncbigene:81844 semapv:UnspecifiedMatching -OMIM:616997 ENPP7 skos:exactMatch ncbigene:339221 semapv:UnspecifiedMatching OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:ENPP7 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch ncbigene:339221 semapv:UnspecifiedMatching OMIM:616998 LLPH skos:exactMatch hgnc.symbol:LLPH semapv:UnspecifiedMatching OMIM:616998 LLPH skos:exactMatch ncbigene:84298 semapv:UnspecifiedMatching OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:RBFOX3 semapv:UnspecifiedMatching OMIM:616999 RBFOX3 skos:exactMatch ncbigene:146713 semapv:UnspecifiedMatching -OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:ENPP4 semapv:UnspecifiedMatching OMIM:617000 ENPP4 skos:exactMatch ncbigene:22875 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:ENPP4 semapv:UnspecifiedMatching OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:ENPP5 semapv:UnspecifiedMatching OMIM:617001 ENPP5 skos:exactMatch ncbigene:59084 semapv:UnspecifiedMatching -OMIM:617002 BICDL1 skos:exactMatch ncbigene:92558 semapv:UnspecifiedMatching OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:BICDL1 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch ncbigene:92558 semapv:UnspecifiedMatching OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:BICDL2 semapv:UnspecifiedMatching OMIM:617003 BICDL2 skos:exactMatch ncbigene:146439 semapv:UnspecifiedMatching OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:CLDN17 semapv:UnspecifiedMatching OMIM:617005 CLDN17 skos:exactMatch ncbigene:26285 semapv:UnspecifiedMatching -OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:TRIM35 semapv:UnspecifiedMatching OMIM:617007 TRIM35 skos:exactMatch ncbigene:23087 semapv:UnspecifiedMatching -OMIM:617009 ANKRD53 skos:exactMatch ncbigene:79998 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:TRIM35 semapv:UnspecifiedMatching OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:ANKRD53 semapv:UnspecifiedMatching -OMIM:617010 ULK4 skos:exactMatch ncbigene:54986 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch ncbigene:79998 semapv:UnspecifiedMatching OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:ULK4 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch ncbigene:54986 semapv:UnspecifiedMatching OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:PVRIG semapv:UnspecifiedMatching OMIM:617012 PVRIG skos:exactMatch ncbigene:79037 semapv:UnspecifiedMatching OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching -OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:PLCXD2 semapv:UnspecifiedMatching OMIM:617015 PLCXD2 skos:exactMatch ncbigene:257068 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:PLCXD2 semapv:UnspecifiedMatching OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:PLCXD3 semapv:UnspecifiedMatching OMIM:617016 PLCXD3 skos:exactMatch ncbigene:345557 semapv:UnspecifiedMatching -OMIM:617019 TMEM230 skos:exactMatch ncbigene:29058 semapv:UnspecifiedMatching OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:TMEM230 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch ncbigene:29058 semapv:UnspecifiedMatching OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch UMLS:C4310760 semapv:UnspecifiedMatching OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching -OMIM:617025 nevus comedonicus skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching OMIM:617025 nevus comedonicus skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching +OMIM:617025 nevus comedonicus skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:SEMA4B semapv:UnspecifiedMatching OMIM:617029 SEMA4B skos:exactMatch ncbigene:10509 semapv:UnspecifiedMatching OMIM:617030 myopathy, distal, 5 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching OMIM:617030 myopathy, distal, 5 skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching -OMIM:617031 PRPF38A skos:exactMatch ncbigene:84950 semapv:UnspecifiedMatching OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:PRPF38A semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch ncbigene:84950 semapv:UnspecifiedMatching OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:PGGHG semapv:UnspecifiedMatching OMIM:617032 PGGHG skos:exactMatch ncbigene:80162 semapv:UnspecifiedMatching -OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:CASTOR2 semapv:UnspecifiedMatching OMIM:617033 CASTOR2 skos:exactMatch ncbigene:729438 semapv:UnspecifiedMatching -OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:CASTOR1 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:CASTOR2 semapv:UnspecifiedMatching OMIM:617034 CASTOR1 skos:exactMatch ncbigene:652968 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:CASTOR1 semapv:UnspecifiedMatching OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:ACER3 semapv:UnspecifiedMatching OMIM:617036 ACER3 skos:exactMatch ncbigene:55331 semapv:UnspecifiedMatching -OMIM:617037 NORAD skos:exactMatch ncbigene:647979 semapv:UnspecifiedMatching OMIM:617037 NORAD skos:exactMatch hgnc.symbol:NORAD semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch ncbigene:647979 semapv:UnspecifiedMatching OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:LINC01370 semapv:UnspecifiedMatching OMIM:617038 LINC01370 skos:exactMatch ncbigene:100505663 semapv:UnspecifiedMatching OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:MIR1231 semapv:UnspecifiedMatching OMIM:617040 MIR1231 skos:exactMatch ncbigene:100302158 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch UMLS:C1539620 semapv:UnspecifiedMatching OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:GSDMD semapv:UnspecifiedMatching OMIM:617042 GSDMD skos:exactMatch ncbigene:79792 semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch UMLS:C1539620 semapv:UnspecifiedMatching OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:ARHGEF17 semapv:UnspecifiedMatching OMIM:617043 ARHGEF17 skos:exactMatch ncbigene:9828 semapv:UnspecifiedMatching OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:ZNF703 semapv:UnspecifiedMatching OMIM:617045 ZNF703 skos:exactMatch ncbigene:80139 semapv:UnspecifiedMatching -OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:DNAJC21 semapv:UnspecifiedMatching OMIM:617048 DNAJC21 skos:exactMatch ncbigene:134218 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:DNAJC21 semapv:UnspecifiedMatching OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching -OMIM:617053 mirage syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching OMIM:617053 mirage syndrome skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching +OMIM:617053 mirage syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch UMLS:C4310743 semapv:UnspecifiedMatching OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching OMIM:617055 perching syndrome skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching OMIM:617055 perching syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching -OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:CTU2 semapv:UnspecifiedMatching OMIM:617057 CTU2 skos:exactMatch ncbigene:348180 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:CTU2 semapv:UnspecifiedMatching OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:TSR3 semapv:UnspecifiedMatching OMIM:617058 TSR3 skos:exactMatch ncbigene:115939 semapv:UnspecifiedMatching -OMIM:617059 ZDBF2 skos:exactMatch ncbigene:57683 semapv:UnspecifiedMatching OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:ZDBF2 semapv:UnspecifiedMatching -OMIM:617060 LCTL skos:exactMatch ncbigene:197021 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch ncbigene:57683 semapv:UnspecifiedMatching OMIM:617060 LCTL skos:exactMatch hgnc.symbol:LCTL semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch ncbigene:197021 semapv:UnspecifiedMatching OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch UMLS:C1825432 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:GUF1 semapv:UnspecifiedMatching OMIM:617064 GUF1 skos:exactMatch ncbigene:60558 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:GUF1 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch UMLS:C1825432 semapv:UnspecifiedMatching OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:617067 LYPD8 skos:exactMatch ncbigene:646627 semapv:UnspecifiedMatching OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:LYPD8 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch ncbigene:646627 semapv:UnspecifiedMatching OMIM:617074 SMCR8 skos:exactMatch UMLS:C1425178 semapv:UnspecifiedMatching OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:SMCR8 semapv:UnspecifiedMatching OMIM:617074 SMCR8 skos:exactMatch ncbigene:140775 semapv:UnspecifiedMatching -OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:FKBPL semapv:UnspecifiedMatching OMIM:617076 FKBPL skos:exactMatch ncbigene:63943 semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:FKBPL semapv:UnspecifiedMatching OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:ZNF618 semapv:UnspecifiedMatching OMIM:617077 ZNF618 skos:exactMatch ncbigene:114991 semapv:UnspecifiedMatching -OMIM:617078 DEDD2 skos:exactMatch ncbigene:162989 semapv:UnspecifiedMatching OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:DEDD2 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch ncbigene:162989 semapv:UnspecifiedMatching OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:LINC00673 semapv:UnspecifiedMatching OMIM:617079 LINC00673 skos:exactMatch ncbigene:100499467 semapv:UnspecifiedMatching -OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch UMLS:C1538537 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:OMA1 semapv:UnspecifiedMatching +OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching OMIM:617081 OMA1 skos:exactMatch ncbigene:115209 semapv:UnspecifiedMatching -OMIM:617083 DYNC2LI1 skos:exactMatch ncbigene:51626 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:OMA1 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch UMLS:C1538537 semapv:UnspecifiedMatching OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:DYNC2LI1 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch ncbigene:51626 semapv:UnspecifiedMatching OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:TMEM59 semapv:UnspecifiedMatching OMIM:617084 TMEM59 skos:exactMatch ncbigene:9528 semapv:UnspecifiedMatching OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:FIBIN semapv:UnspecifiedMatching OMIM:617085 FIBIN skos:exactMatch ncbigene:387758 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch ncbigene:25871 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:NEPRO semapv:UnspecifiedMatching OMIM:617089 NEPRO skos:exactMatch UMLS:C1540228 semapv:UnspecifiedMatching OMIM:617089 NEPRO skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:NEPRO semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch ncbigene:25871 semapv:UnspecifiedMatching OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch UMLS:C4310723 semapv:UnspecifiedMatching OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch ncbigene:51098 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:IFT52 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C1825567 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C4310846 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C4310847 semapv:UnspecifiedMatching -OMIM:617095 TTC25 skos:exactMatch hgnc.symbol:ODAD4 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch ncbigene:51098 semapv:UnspecifiedMatching OMIM:617095 TTC25 skos:exactMatch ncbigene:83538 semapv:UnspecifiedMatching +OMIM:617095 TTC25 skos:exactMatch hgnc.symbol:ODAD4 semapv:UnspecifiedMatching OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:TMEM59L semapv:UnspecifiedMatching OMIM:617096 TMEM59L skos:exactMatch ncbigene:25789 semapv:UnspecifiedMatching OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:LINC01194 semapv:UnspecifiedMatching OMIM:617097 LINC01194 skos:exactMatch ncbigene:404663 semapv:UnspecifiedMatching OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:RNASEK semapv:UnspecifiedMatching OMIM:617098 RNASEK skos:exactMatch ncbigene:440400 semapv:UnspecifiedMatching -OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch UMLS:C4310718 semapv:UnspecifiedMatching -OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:ZNF668 semapv:UnspecifiedMatching +OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:617103 ZNF668 skos:exactMatch ncbigene:79759 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:ZNF668 semapv:UnspecifiedMatching OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:PIP4K2C semapv:UnspecifiedMatching OMIM:617104 PIP4K2C skos:exactMatch ncbigene:79837 semapv:UnspecifiedMatching OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching +OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:CREBRF semapv:UnspecifiedMatching OMIM:617109 CREBRF skos:exactMatch ncbigene:153222 semapv:UnspecifiedMatching -OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:CEP78 semapv:UnspecifiedMatching OMIM:617110 CEP78 skos:exactMatch ncbigene:84131 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:CEP78 semapv:UnspecifiedMatching OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:KIAA0753 semapv:UnspecifiedMatching OMIM:617112 KIAA0753 skos:exactMatch ncbigene:9851 semapv:UnspecifiedMatching OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:617117 LINC00663 skos:exactMatch ncbigene:284440 semapv:UnspecifiedMatching OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:LINC00663 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch ncbigene:284440 semapv:UnspecifiedMatching OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:PCOTH semapv:UnspecifiedMatching OMIM:617122 C1QTNF9BAS1 skos:exactMatch ncbigene:542767 semapv:UnspecifiedMatching OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:PM20D1 semapv:UnspecifiedMatching OMIM:617124 PM20D1 skos:exactMatch ncbigene:148811 semapv:UnspecifiedMatching -OMIM:617128 INSYN1 skos:exactMatch ncbigene:388135 semapv:UnspecifiedMatching OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:INSYN1 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch ncbigene:388135 semapv:UnspecifiedMatching OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:INSYN2A semapv:UnspecifiedMatching OMIM:617129 INSYN2A skos:exactMatch ncbigene:642938 semapv:UnspecifiedMatching -OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:MAJIN semapv:UnspecifiedMatching OMIM:617130 MAJIN skos:exactMatch ncbigene:283129 semapv:UnspecifiedMatching -OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:TERB2 semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:MAJIN semapv:UnspecifiedMatching OMIM:617131 TERB2 skos:exactMatch ncbigene:145645 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:TERB2 semapv:UnspecifiedMatching OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617134 TMCO3 skos:exactMatch ncbigene:55002 semapv:UnspecifiedMatching OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:TMCO3 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch ncbigene:55002 semapv:UnspecifiedMatching OMIM:617135 L3MBTL4 skos:exactMatch UMLS:C1537515 semapv:UnspecifiedMatching OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:L3MBTL4 semapv:UnspecifiedMatching OMIM:617135 L3MBTL4 skos:exactMatch ncbigene:91133 semapv:UnspecifiedMatching OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:TFAP2A-AS2 semapv:UnspecifiedMatching OMIM:617136 TFAP2AAS2 skos:exactMatch ncbigene:109729173 semapv:UnspecifiedMatching -OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching -OMIM:617138 SKOR2 skos:exactMatch ncbigene:652991 semapv:UnspecifiedMatching +OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:SKOR2 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch ncbigene:652991 semapv:UnspecifiedMatching OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:LGALS7B semapv:UnspecifiedMatching OMIM:617139 LGALS7B skos:exactMatch ncbigene:653499 semapv:UnspecifiedMatching OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:MIR4435-2HG semapv:UnspecifiedMatching OMIM:617144 MIR4435-2HG skos:exactMatch ncbigene:541471 semapv:UnspecifiedMatching OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch UMLS:C4310692 semapv:UnspecifiedMatching -OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:CCDC14 semapv:UnspecifiedMatching OMIM:617147 CCDC14 skos:exactMatch ncbigene:64770 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:CCDC14 semapv:UnspecifiedMatching OMIM:617148 DEUP1 skos:exactMatch ncbigene:159989 semapv:UnspecifiedMatching OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:DEUP1 semapv:UnspecifiedMatching OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:CEP20 semapv:UnspecifiedMatching @@ -38490,164 +38494,164 @@ OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:SULT1C3 semapv:UnspecifiedMatchi OMIM:617151 SULT1C3 skos:exactMatch ncbigene:442038 semapv:UnspecifiedMatching OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:SULT6B1 semapv:UnspecifiedMatching OMIM:617152 SULT6B1 skos:exactMatch ncbigene:391365 semapv:UnspecifiedMatching -OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:MRNIP semapv:UnspecifiedMatching OMIM:617154 MRNIP skos:exactMatch ncbigene:51149 semapv:UnspecifiedMatching OMIM:617155 ST18 skos:exactMatch hgnc.symbol:ST18 semapv:UnspecifiedMatching OMIM:617155 ST18 skos:exactMatch ncbigene:9705 semapv:UnspecifiedMatching -OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching -OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching +OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching -OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:PROM2 semapv:UnspecifiedMatching +OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching OMIM:617160 PROM2 skos:exactMatch ncbigene:150696 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:PROM2 semapv:UnspecifiedMatching OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:GSG1L semapv:UnspecifiedMatching OMIM:617161 GSG1L skos:exactMatch ncbigene:146395 semapv:UnspecifiedMatching OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617163 RNF186 skos:exactMatch ncbigene:54546 semapv:UnspecifiedMatching OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:RNF186 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch ncbigene:54546 semapv:UnspecifiedMatching OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:PRXL2A semapv:UnspecifiedMatching OMIM:617165 FAM213A skos:exactMatch ncbigene:84293 semapv:UnspecifiedMatching -OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:SLC35G1 semapv:UnspecifiedMatching OMIM:617167 SLC35G1 skos:exactMatch ncbigene:159371 semapv:UnspecifiedMatching OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:CWC27 semapv:UnspecifiedMatching OMIM:617170 CWC27 skos:exactMatch ncbigene:10283 semapv:UnspecifiedMatching -OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching +OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:GPX8 semapv:UnspecifiedMatching OMIM:617172 GPX8 skos:exactMatch ncbigene:493869 semapv:UnspecifiedMatching -OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:MIR4271 semapv:UnspecifiedMatching OMIM:617176 MIR4271 skos:exactMatch ncbigene:100422952 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:MIR4271 semapv:UnspecifiedMatching OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:MYL10 semapv:UnspecifiedMatching OMIM:617177 MYL10 skos:exactMatch ncbigene:93408 semapv:UnspecifiedMatching -OMIM:617178 RNF166 skos:exactMatch ncbigene:115992 semapv:UnspecifiedMatching OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:RNF166 semapv:UnspecifiedMatching -OMIM:617179 PANDAR skos:exactMatch ncbigene:101154753 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch ncbigene:115992 semapv:UnspecifiedMatching OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:PANDAR semapv:UnspecifiedMatching -OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:TMC4 semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch ncbigene:101154753 semapv:UnspecifiedMatching OMIM:617181 TMC4 skos:exactMatch ncbigene:147798 semapv:UnspecifiedMatching -OMIM:617183 harel-yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:TMC4 semapv:UnspecifiedMatching OMIM:617183 harel-yoon syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching +OMIM:617183 harel-yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:NSUN7 semapv:UnspecifiedMatching OMIM:617185 NSUN7 skos:exactMatch ncbigene:79730 semapv:UnspecifiedMatching -OMIM:617189 TMEM110 skos:exactMatch ncbigene:375346 semapv:UnspecifiedMatching OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:STIMATE semapv:UnspecifiedMatching -OMIM:617191 PICSAR skos:exactMatch ncbigene:378825 semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch ncbigene:375346 semapv:UnspecifiedMatching OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:PICSAR semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch ncbigene:378825 semapv:UnspecifiedMatching OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:EEPD1 semapv:UnspecifiedMatching OMIM:617192 EEPD1 skos:exactMatch ncbigene:80820 semapv:UnspecifiedMatching OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch UMLS:C4310671 semapv:UnspecifiedMatching OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching -OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:MUSTN1 semapv:UnspecifiedMatching OMIM:617195 MUSTN1 skos:exactMatch ncbigene:389125 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:MUSTN1 semapv:UnspecifiedMatching OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:TMC3 semapv:UnspecifiedMatching OMIM:617196 TMC3 skos:exactMatch ncbigene:342125 semapv:UnspecifiedMatching -OMIM:617197 TMC5 skos:exactMatch ncbigene:79838 semapv:UnspecifiedMatching OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:TMC5 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch ncbigene:79838 semapv:UnspecifiedMatching OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:TMC7 semapv:UnspecifiedMatching OMIM:617198 TMC7 skos:exactMatch ncbigene:79905 semapv:UnspecifiedMatching OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:NSUN6 semapv:UnspecifiedMatching OMIM:617199 NSUN6 skos:exactMatch ncbigene:221078 semapv:UnspecifiedMatching -OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:OPALIN semapv:UnspecifiedMatching OMIM:617200 OPALIN skos:exactMatch ncbigene:93377 semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:OPALIN semapv:UnspecifiedMatching OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:FOXI2 semapv:UnspecifiedMatching OMIM:617202 FOXI2 skos:exactMatch ncbigene:399823 semapv:UnspecifiedMatching -OMIM:617203 TMEM87B skos:exactMatch ncbigene:84910 semapv:UnspecifiedMatching OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:TMEM87B semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch ncbigene:84910 semapv:UnspecifiedMatching OMIM:617204 VMAC skos:exactMatch hgnc.symbol:VMAC semapv:UnspecifiedMatching OMIM:617204 VMAC skos:exactMatch ncbigene:400673 semapv:UnspecifiedMatching OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:NEURL3 semapv:UnspecifiedMatching OMIM:617206 NEURL3 skos:exactMatch ncbigene:93082 semapv:UnspecifiedMatching -OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:MAMDC4 semapv:UnspecifiedMatching OMIM:617208 MAMDC4 skos:exactMatch ncbigene:158056 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:MAMDC4 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch UMLS:C1427248 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:QRSL1 semapv:UnspecifiedMatching OMIM:617209 QRSL1 skos:exactMatch ncbigene:55278 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch UMLS:C1427248 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch ncbigene:283459 semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch UMLS:C2239482 semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch hgnc.symbol:GATC semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch ncbigene:283459 semapv:UnspecifiedMatching -OMIM:617211 DMKN skos:exactMatch hgnc.symbol:DMKN semapv:UnspecifiedMatching OMIM:617211 DMKN skos:exactMatch ncbigene:93099 semapv:UnspecifiedMatching -OMIM:617212 KRTDAP skos:exactMatch ncbigene:388533 semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch hgnc.symbol:DMKN semapv:UnspecifiedMatching OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:KRTDAP semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch ncbigene:388533 semapv:UnspecifiedMatching OMIM:617214 spermatogenic failure 17 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching -OMIM:617215 C17ORF49 skos:exactMatch ncbigene:124944 semapv:UnspecifiedMatching OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:C17orf49 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch ncbigene:124944 semapv:UnspecifiedMatching OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:ZNF420 semapv:UnspecifiedMatching OMIM:617216 ZNF420 skos:exactMatch ncbigene:147923 semapv:UnspecifiedMatching -OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:TMTC3 semapv:UnspecifiedMatching OMIM:617218 TMTC3 skos:exactMatch ncbigene:160418 semapv:UnspecifiedMatching -OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:PYROXD1 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:TMTC3 semapv:UnspecifiedMatching OMIM:617220 PYROXD1 skos:exactMatch ncbigene:79912 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:PYROXD1 semapv:UnspecifiedMatching OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:HKDC1 semapv:UnspecifiedMatching OMIM:617221 HKDC1 skos:exactMatch ncbigene:80201 semapv:UnspecifiedMatching -OMIM:617224 GAS2L3 skos:exactMatch ncbigene:283431 semapv:UnspecifiedMatching OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:GAS2L3 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch ncbigene:283431 semapv:UnspecifiedMatching OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:MAPK1IP1L semapv:UnspecifiedMatching OMIM:617226 MAPK1IP1L skos:exactMatch ncbigene:93487 semapv:UnspecifiedMatching -OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:ATAD3C semapv:UnspecifiedMatching OMIM:617227 ATAD3C skos:exactMatch ncbigene:219293 semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:ATAD3C semapv:UnspecifiedMatching OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:FAM53A semapv:UnspecifiedMatching OMIM:617229 FAM53A skos:exactMatch ncbigene:152877 semapv:UnspecifiedMatching -OMIM:617230 ZFP1 skos:exactMatch ncbigene:162239 semapv:UnspecifiedMatching OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:ZFP1 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch ncbigene:162239 semapv:UnspecifiedMatching OMIM:617231 LHPP skos:exactMatch hgnc.symbol:LHPP semapv:UnspecifiedMatching OMIM:617231 LHPP skos:exactMatch ncbigene:64077 semapv:UnspecifiedMatching OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:WDR70 semapv:UnspecifiedMatching OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching -OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:HAND2-AS1 semapv:UnspecifiedMatching OMIM:617240 HAND2AS1 skos:exactMatch ncbigene:79804 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:HAND2-AS1 semapv:UnspecifiedMatching OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch ncbigene:253017 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch hgnc.symbol:TECRL semapv:UnspecifiedMatching OMIM:617242 TECRL skos:exactMatch UMLS:C2828772 semapv:UnspecifiedMatching OMIM:617242 TECRL skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch hgnc.symbol:TECRL semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch ncbigene:253017 semapv:UnspecifiedMatching OMIM:617244 fanconi anemia, complementation group r skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching OMIM:617244 fanconi anemia, complementation group r skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching -OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:HECW2 semapv:UnspecifiedMatching OMIM:617245 HECW2 skos:exactMatch ncbigene:57520 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:NSMCE2 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:HECW2 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch UMLS:C1826473 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch UMLS:C4310647 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:NSMCE2 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch ncbigene:286053 semapv:UnspecifiedMatching -OMIM:617249 FAM122A skos:exactMatch ncbigene:116224 semapv:UnspecifiedMatching OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:PABIR1 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch ncbigene:116224 semapv:UnspecifiedMatching OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:ERC2 semapv:UnspecifiedMatching OMIM:617250 ERC2 skos:exactMatch ncbigene:26059 semapv:UnspecifiedMatching OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:LMNTD1 semapv:UnspecifiedMatching OMIM:617254 LMNTD1 skos:exactMatch ncbigene:160492 semapv:UnspecifiedMatching -OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:SLC7A13 semapv:UnspecifiedMatching OMIM:617256 SLC7A13 skos:exactMatch ncbigene:157724 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:SLC7A13 semapv:UnspecifiedMatching OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:SPATA46 semapv:UnspecifiedMatching OMIM:617257 SPATA46 skos:exactMatch ncbigene:284680 semapv:UnspecifiedMatching -OMIM:617259 DCAF1 skos:exactMatch ncbigene:9730 semapv:UnspecifiedMatching OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:DCAF1 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch ncbigene:9730 semapv:UnspecifiedMatching OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:DMAC1 semapv:UnspecifiedMatching OMIM:617261 TMEM261 skos:exactMatch ncbigene:90871 semapv:UnspecifiedMatching OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:DMAC2 semapv:UnspecifiedMatching OMIM:617262 ATP5SL skos:exactMatch ncbigene:55101 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch UMLS:C1538488 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:NSMCE1 semapv:UnspecifiedMatching OMIM:617263 NSMCE1 skos:exactMatch ncbigene:197370 semapv:UnspecifiedMatching -OMIM:617264 SCAF1 skos:exactMatch ncbigene:58506 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:NSMCE1 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch UMLS:C1538488 semapv:UnspecifiedMatching OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:SCAF1 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch ncbigene:58506 semapv:UnspecifiedMatching OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:KCTD9 semapv:UnspecifiedMatching OMIM:617265 KCTD9 skos:exactMatch ncbigene:54793 semapv:UnspecifiedMatching OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:KIAA0825 semapv:UnspecifiedMatching OMIM:617266 KIAA0825 skos:exactMatch ncbigene:285600 semapv:UnspecifiedMatching OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:MAIP1 semapv:UnspecifiedMatching OMIM:617267 MAIP1 skos:exactMatch ncbigene:79568 semapv:UnspecifiedMatching -OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:SOCS2-AS1 semapv:UnspecifiedMatching OMIM:617269 SOCS2AS1 skos:exactMatch ncbigene:144481 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:SOCS2-AS1 semapv:UnspecifiedMatching OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:CIBAR1 semapv:UnspecifiedMatching OMIM:617273 CIBAR1 skos:exactMatch ncbigene:137392 semapv:UnspecifiedMatching OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:CIBAR2 semapv:UnspecifiedMatching @@ -38655,167 +38659,167 @@ OMIM:617274 CIBAR2 skos:exactMatch ncbigene:339145 semapv:UnspecifiedMatching OMIM:617275 tooth agenesis, selective, 9 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617277 DNHD1 skos:exactMatch ncbigene:144132 semapv:UnspecifiedMatching OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:DNHD1 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:DENND5A semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch ncbigene:144132 semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch ncbigene:23258 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:DENND5A semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch UMLS:C1426178 semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching -OMIM:617279 DENND5B skos:exactMatch ncbigene:160518 semapv:UnspecifiedMatching OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:DENND5B semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch ncbigene:160518 semapv:UnspecifiedMatching OMIM:617281 developmental and epileptic encephalopathy 49 skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch ncbigene:91746 semapv:UnspecifiedMatching OMIM:617283 YTHDC1 skos:exactMatch UMLS:C1823897 semapv:UnspecifiedMatching OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:YTHDC1 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch ncbigene:91746 semapv:UnspecifiedMatching -OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:HMGB4 semapv:UnspecifiedMatching OMIM:617285 HMGB4 skos:exactMatch ncbigene:127540 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:HMGB4 semapv:UnspecifiedMatching OMIM:617286 PANCR skos:exactMatch hgnc.symbol:PANCR semapv:UnspecifiedMatching OMIM:617286 PANCR skos:exactMatch ncbigene:110231149 semapv:UnspecifiedMatching -OMIM:617287 PLPPR5 skos:exactMatch ncbigene:163404 semapv:UnspecifiedMatching OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:PLPPR5 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch ncbigene:163404 semapv:UnspecifiedMatching OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:SPINK7 semapv:UnspecifiedMatching OMIM:617288 SPINK7 skos:exactMatch ncbigene:84651 semapv:UnspecifiedMatching OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:FAM53B semapv:UnspecifiedMatching OMIM:617289 FAM53B skos:exactMatch ncbigene:9679 semapv:UnspecifiedMatching -OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:TMEM150B semapv:UnspecifiedMatching OMIM:617291 TMEM150B skos:exactMatch ncbigene:284417 semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:TMEM150B semapv:UnspecifiedMatching OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:TMEM150C semapv:UnspecifiedMatching OMIM:617292 TMEM150C skos:exactMatch ncbigene:441027 semapv:UnspecifiedMatching -OMIM:617293 MXRA8 skos:exactMatch ncbigene:54587 semapv:UnspecifiedMatching OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:MXRA8 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch ncbigene:54587 semapv:UnspecifiedMatching OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:RUNDC3B semapv:UnspecifiedMatching OMIM:617295 RUNDC3B skos:exactMatch ncbigene:154661 semapv:UnspecifiedMatching -OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:AIFM3 semapv:UnspecifiedMatching OMIM:617298 AIFM3 skos:exactMatch ncbigene:150209 semapv:UnspecifiedMatching -OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:RPAIN semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:AIFM3 semapv:UnspecifiedMatching OMIM:617299 RPAIN skos:exactMatch ncbigene:84268 semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:RPAIN semapv:UnspecifiedMatching OMIM:617300 lymphatic malformation 7 skos:exactMatch UMLS:C4310629 semapv:UnspecifiedMatching -OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching +OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:CALHM6 semapv:UnspecifiedMatching OMIM:617305 FAM26F skos:exactMatch ncbigene:441168 semapv:UnspecifiedMatching OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:C14orf39 semapv:UnspecifiedMatching OMIM:617307 C14ORF39 skos:exactMatch ncbigene:317761 semapv:UnspecifiedMatching -OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:IGFN1 semapv:UnspecifiedMatching OMIM:617309 IGFN1 skos:exactMatch ncbigene:91156 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:IGFN1 semapv:UnspecifiedMatching OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:ANKS3 semapv:UnspecifiedMatching OMIM:617310 ANKS3 skos:exactMatch ncbigene:124401 semapv:UnspecifiedMatching OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:ZG16 semapv:UnspecifiedMatching OMIM:617311 ZG16 skos:exactMatch ncbigene:653808 semapv:UnspecifiedMatching -OMIM:617312 FHIP2A skos:exactMatch ncbigene:57700 semapv:UnspecifiedMatching OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:FHIP2A semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch ncbigene:57700 semapv:UnspecifiedMatching OMIM:617313 SHF skos:exactMatch hgnc.symbol:SHF semapv:UnspecifiedMatching OMIM:617313 SHF skos:exactMatch ncbigene:90525 semapv:UnspecifiedMatching -OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:SH3YL1 semapv:UnspecifiedMatching OMIM:617314 SH3YL1 skos:exactMatch ncbigene:26751 semapv:UnspecifiedMatching -OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:TP53TG5 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:SH3YL1 semapv:UnspecifiedMatching OMIM:617316 TP53TG5 skos:exactMatch ncbigene:27296 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:TP53TG5 semapv:UnspecifiedMatching OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:ZFP30 semapv:UnspecifiedMatching OMIM:617317 ZFP30 skos:exactMatch ncbigene:22835 semapv:UnspecifiedMatching -OMIM:617318 RUSC1 skos:exactMatch ncbigene:23623 semapv:UnspecifiedMatching OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:RUSC1 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch ncbigene:23623 semapv:UnspecifiedMatching OMIM:617321 yao syndrome skos:exactMatch UMLS:C4310620 semapv:UnspecifiedMatching OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:SHKBP1 semapv:UnspecifiedMatching OMIM:617322 SHKBP1 skos:exactMatch ncbigene:92799 semapv:UnspecifiedMatching OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:SHISA2 semapv:UnspecifiedMatching OMIM:617324 SHISA2 skos:exactMatch ncbigene:387914 semapv:UnspecifiedMatching -OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:SHISA3 semapv:UnspecifiedMatching OMIM:617325 SHISA3 skos:exactMatch ncbigene:152573 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:SHISA3 semapv:UnspecifiedMatching OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:SHISA4 semapv:UnspecifiedMatching OMIM:617326 SHISA4 skos:exactMatch ncbigene:149345 semapv:UnspecifiedMatching -OMIM:617327 SHISA6 skos:exactMatch ncbigene:388336 semapv:UnspecifiedMatching OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:SHISA6 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch ncbigene:388336 semapv:UnspecifiedMatching OMIM:617328 SHISA7 skos:exactMatch UMLS:C2828684 semapv:UnspecifiedMatching OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:SHISA7 semapv:UnspecifiedMatching OMIM:617328 SHISA7 skos:exactMatch ncbigene:729956 semapv:UnspecifiedMatching -OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:SHISA8 semapv:UnspecifiedMatching OMIM:617329 SHISA8 skos:exactMatch ncbigene:440829 semapv:UnspecifiedMatching -OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:MFSD4B semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:SHISA8 semapv:UnspecifiedMatching OMIM:617331 MFSD4B skos:exactMatch ncbigene:91749 semapv:UnspecifiedMatching -OMIM:617332 TERB1 skos:exactMatch ncbigene:283847 semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:MFSD4B semapv:UnspecifiedMatching OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:TERB1 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch ncbigene:283847 semapv:UnspecifiedMatching OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch UMLS:C4310617 semapv:UnspecifiedMatching OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:ZDHHC23 semapv:UnspecifiedMatching OMIM:617334 ZDHHC23 skos:exactMatch ncbigene:254887 semapv:UnspecifiedMatching OMIM:617335 EBPL skos:exactMatch hgnc.symbol:EBPL semapv:UnspecifiedMatching OMIM:617335 EBPL skos:exactMatch ncbigene:84650 semapv:UnspecifiedMatching -OMIM:617338 NUDT16L1 skos:exactMatch ncbigene:84309 semapv:UnspecifiedMatching OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:NUDT16L1 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch ncbigene:84309 semapv:UnspecifiedMatching OMIM:617339 developmental and epileptic encephalopathy 51 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching -OMIM:617340 UPP2 skos:exactMatch ncbigene:151531 semapv:UnspecifiedMatching OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:UPP2 semapv:UnspecifiedMatching -OMIM:617342 PTRHD1 skos:exactMatch ncbigene:391356 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch ncbigene:151531 semapv:UnspecifiedMatching OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:PTRHD1 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch ncbigene:391356 semapv:UnspecifiedMatching OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:PRAG1 semapv:UnspecifiedMatching OMIM:617344 PRAG1 skos:exactMatch ncbigene:157285 semapv:UnspecifiedMatching OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:AGBL2 semapv:UnspecifiedMatching OMIM:617345 AGBL2 skos:exactMatch ncbigene:79841 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch UMLS:C1826609 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:AGBL3 semapv:UnspecifiedMatching OMIM:617346 AGBL3 skos:exactMatch ncbigene:340351 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:AGBL3 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch UMLS:C1826609 semapv:UnspecifiedMatching OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:CPXM2 semapv:UnspecifiedMatching OMIM:617348 CPXM2 skos:exactMatch ncbigene:119587 semapv:UnspecifiedMatching -OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching +OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:IGSF10 semapv:UnspecifiedMatching OMIM:617351 IGSF10 skos:exactMatch ncbigene:285313 semapv:UnspecifiedMatching OMIM:617353 TCTEX1D2 skos:exactMatch hgnc.symbol:DYNLT2B semapv:UnspecifiedMatching OMIM:617353 TCTEX1D2 skos:exactMatch ncbigene:255758 semapv:UnspecifiedMatching -OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:CBX8 semapv:UnspecifiedMatching OMIM:617354 CBX8 skos:exactMatch ncbigene:57332 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:CBX8 semapv:UnspecifiedMatching OMIM:617355 EID2B skos:exactMatch hgnc.symbol:EID2B semapv:UnspecifiedMatching OMIM:617355 EID2B skos:exactMatch ncbigene:126272 semapv:UnspecifiedMatching -OMIM:617356 SSPO skos:exactMatch ncbigene:23145 semapv:UnspecifiedMatching OMIM:617356 SSPO skos:exactMatch hgnc.symbol:SSPOP semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch ncbigene:23145 semapv:UnspecifiedMatching OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:ZNF222 semapv:UnspecifiedMatching OMIM:617357 ZNF222 skos:exactMatch ncbigene:7673 semapv:UnspecifiedMatching OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:SDCBP2 semapv:UnspecifiedMatching OMIM:617358 SDCBP2 skos:exactMatch ncbigene:27111 semapv:UnspecifiedMatching -OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:STOX2 semapv:UnspecifiedMatching OMIM:617359 STOX2 skos:exactMatch ncbigene:56977 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:STOX2 semapv:UnspecifiedMatching OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:TMEM108 semapv:UnspecifiedMatching OMIM:617361 TMEM108 skos:exactMatch ncbigene:66000 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch ncbigene:57647 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:DHX37 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C5231548 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C5231546 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C1424824 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C5231546 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C5231547 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C5231548 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:DHX37 semapv:UnspecifiedMatching OMIM:617363 TMEM132A skos:exactMatch ncbigene:54972 semapv:UnspecifiedMatching OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:TMEM132A semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch UMLS:C1423806 semapv:UnspecifiedMatching OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:AAR2 semapv:UnspecifiedMatching OMIM:617365 AAR2 skos:exactMatch ncbigene:25980 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch UMLS:C1423806 semapv:UnspecifiedMatching OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:CCDC91 semapv:UnspecifiedMatching OMIM:617366 CCDC91 skos:exactMatch ncbigene:55297 semapv:UnspecifiedMatching OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:KIAA1217 semapv:UnspecifiedMatching OMIM:617367 KIAA1217 skos:exactMatch ncbigene:56243 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch ncbigene:23616 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:SH3BP1 semapv:UnspecifiedMatching OMIM:617368 SH3BP1 skos:exactMatch UMLS:C1420021 semapv:UnspecifiedMatching OMIM:617368 SH3BP1 skos:exactMatch UMLS:C4479253 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:SH3BP1 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch ncbigene:23616 semapv:UnspecifiedMatching -OMIM:617369 HABP4 skos:exactMatch ncbigene:22927 semapv:UnspecifiedMatching OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:HABP4 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch ncbigene:22927 semapv:UnspecifiedMatching OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:ZNF462 semapv:UnspecifiedMatching OMIM:617371 ZNF462 skos:exactMatch ncbigene:58499 semapv:UnspecifiedMatching OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:SHC4 semapv:UnspecifiedMatching OMIM:617372 SHC4 skos:exactMatch ncbigene:399694 semapv:UnspecifiedMatching OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:PRRC2C semapv:UnspecifiedMatching OMIM:617373 PRRC2C skos:exactMatch ncbigene:23215 semapv:UnspecifiedMatching -OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:INCA1 semapv:UnspecifiedMatching OMIM:617374 INCA1 skos:exactMatch ncbigene:388324 semapv:UnspecifiedMatching -OMIM:617375 KLHDC9 skos:exactMatch ncbigene:126823 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:INCA1 semapv:UnspecifiedMatching OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:KLHDC9 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch ncbigene:126823 semapv:UnspecifiedMatching OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:PROCA1 semapv:UnspecifiedMatching OMIM:617376 PROCA1 skos:exactMatch ncbigene:147011 semapv:UnspecifiedMatching OMIM:617377 SYDE1 skos:exactMatch UMLS:C1823159 semapv:UnspecifiedMatching OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:SYDE1 semapv:UnspecifiedMatching OMIM:617377 SYDE1 skos:exactMatch ncbigene:85360 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:MYL11 semapv:UnspecifiedMatching OMIM:617378 MYL11 skos:exactMatch ncbigene:29895 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch UMLS:C2681932 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:MYL11 semapv:UnspecifiedMatching OMIM:617378 MYL11 skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch UMLS:C2681932 semapv:UnspecifiedMatching OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:MYO19 semapv:UnspecifiedMatching OMIM:617379 MYO19 skos:exactMatch ncbigene:80179 semapv:UnspecifiedMatching OMIM:617380 TIMM29 skos:exactMatch UMLS:C4321054 semapv:UnspecifiedMatching @@ -38823,8 +38827,8 @@ OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:TIMM29 semapv:UnspecifiedMatching OMIM:617380 TIMM29 skos:exactMatch ncbigene:90580 semapv:UnspecifiedMatching OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:NUDT16 semapv:UnspecifiedMatching OMIM:617381 NUDT16 skos:exactMatch ncbigene:131870 semapv:UnspecifiedMatching -OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:STARD10 semapv:UnspecifiedMatching OMIM:617382 STARD10 skos:exactMatch ncbigene:10809 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:STARD10 semapv:UnspecifiedMatching OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:ATP6V1E2 semapv:UnspecifiedMatching OMIM:617385 ATP6V1E2 skos:exactMatch ncbigene:90423 semapv:UnspecifiedMatching OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:NR1H5P semapv:UnspecifiedMatching @@ -38832,71 +38836,71 @@ OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:QRICH1 semapv:UnspecifiedMatching OMIM:617387 QRICH1 skos:exactMatch ncbigene:54870 semapv:UnspecifiedMatching OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:KIAA1958 semapv:UnspecifiedMatching OMIM:617390 KIAA1958 skos:exactMatch ncbigene:158405 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:KIAA1958 semapv:UnspecifiedMatching OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching +OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:FKBP15 semapv:UnspecifiedMatching OMIM:617398 FKBP15 skos:exactMatch ncbigene:23307 semapv:UnspecifiedMatching OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:PXMP2 semapv:UnspecifiedMatching OMIM:617399 PXMP2 skos:exactMatch ncbigene:5827 semapv:UnspecifiedMatching -OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:EPHX3 semapv:UnspecifiedMatching OMIM:617400 EPHX3 skos:exactMatch ncbigene:79852 semapv:UnspecifiedMatching -OMIM:617401 EPHX4 skos:exactMatch ncbigene:253152 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:EPHX3 semapv:UnspecifiedMatching OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:EPHX4 semapv:UnspecifiedMatching -OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch ncbigene:253152 semapv:UnspecifiedMatching OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching +OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching -OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:PCGF5 semapv:UnspecifiedMatching OMIM:617407 PCGF5 skos:exactMatch ncbigene:84333 semapv:UnspecifiedMatching -OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:ZNF419 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:PCGF5 semapv:UnspecifiedMatching OMIM:617410 ZNF419 skos:exactMatch ncbigene:79744 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:ZNF419 semapv:UnspecifiedMatching OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:ARFGEF3 semapv:UnspecifiedMatching OMIM:617411 ARFGEF3 skos:exactMatch ncbigene:57221 semapv:UnspecifiedMatching -OMIM:617413 PRUNE1 skos:exactMatch ncbigene:58497 semapv:UnspecifiedMatching OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:PRUNE1 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch ncbigene:58497 semapv:UnspecifiedMatching OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:RPL14 semapv:UnspecifiedMatching OMIM:617414 RPL14 skos:exactMatch ncbigene:9045 semapv:UnspecifiedMatching OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:RPL31 semapv:UnspecifiedMatching OMIM:617415 RPL31 skos:exactMatch ncbigene:6160 semapv:UnspecifiedMatching -OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:RPL3L semapv:UnspecifiedMatching OMIM:617416 RPL3L skos:exactMatch ncbigene:6123 semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:RPL3L semapv:UnspecifiedMatching OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:RPL7L1 semapv:UnspecifiedMatching OMIM:617417 RPL7L1 skos:exactMatch ncbigene:285855 semapv:UnspecifiedMatching -OMIM:617418 WDR59 skos:exactMatch ncbigene:79726 semapv:UnspecifiedMatching OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:WDR59 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch ncbigene:79726 semapv:UnspecifiedMatching OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:P3H4 semapv:UnspecifiedMatching OMIM:617419 P3H4 skos:exactMatch ncbigene:10609 semapv:UnspecifiedMatching OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:KICS2 semapv:UnspecifiedMatching OMIM:617420 KICS2 skos:exactMatch ncbigene:144577 semapv:UnspecifiedMatching OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:ITFG2 semapv:UnspecifiedMatching OMIM:617421 ITFG2 skos:exactMatch ncbigene:55846 semapv:UnspecifiedMatching -OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:ADNP2 semapv:UnspecifiedMatching OMIM:617422 ADNP2 skos:exactMatch ncbigene:22850 semapv:UnspecifiedMatching -OMIM:617423 PRR14 skos:exactMatch ncbigene:78994 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:ADNP2 semapv:UnspecifiedMatching OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:PRR14 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch ncbigene:78994 semapv:UnspecifiedMatching OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:WDR26 semapv:UnspecifiedMatching OMIM:617424 WDR26 skos:exactMatch ncbigene:80232 semapv:UnspecifiedMatching OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:CRCT1 semapv:UnspecifiedMatching OMIM:617426 CRCT1 skos:exactMatch ncbigene:54544 semapv:UnspecifiedMatching OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:S100A7A semapv:UnspecifiedMatching OMIM:617427 S100A7A skos:exactMatch ncbigene:338324 semapv:UnspecifiedMatching -OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:C1orf43 semapv:UnspecifiedMatching OMIM:617428 C1ORF43 skos:exactMatch ncbigene:25912 semapv:UnspecifiedMatching -OMIM:617429 UBE2Q1 skos:exactMatch ncbigene:55585 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:C1orf43 semapv:UnspecifiedMatching OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:UBE2Q1 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch ncbigene:55585 semapv:UnspecifiedMatching OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:ADGRF1 semapv:UnspecifiedMatching OMIM:617430 ADGRF1 skos:exactMatch ncbigene:266977 semapv:UnspecifiedMatching OMIM:617431 USP53 skos:exactMatch hgnc.symbol:USP53 semapv:UnspecifiedMatching OMIM:617431 USP53 skos:exactMatch ncbigene:54532 semapv:UnspecifiedMatching OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:CERNA2 semapv:UnspecifiedMatching OMIM:617434 long noncoding RNA host2 skos:exactMatch ncbigene:642934 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch ncbigene:84520 semapv:UnspecifiedMatching OMIM:617436 GON7 skos:exactMatch hgnc.symbol:GON7 semapv:UnspecifiedMatching OMIM:617436 GON7 skos:exactMatch UMLS:C4320392 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch ncbigene:84520 semapv:UnspecifiedMatching OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:S100A16 semapv:UnspecifiedMatching OMIM:617437 S100A16 skos:exactMatch ncbigene:140576 semapv:UnspecifiedMatching OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:CBX6 semapv:UnspecifiedMatching @@ -38907,40 +38911,40 @@ OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:ZNF479 semapv:UnspecifiedMatching OMIM:617444 ZNF479 skos:exactMatch ncbigene:90827 semapv:UnspecifiedMatching OMIM:617445 USP48 skos:exactMatch ncbigene:84196 semapv:UnspecifiedMatching OMIM:617445 USP48 skos:exactMatch hgnc.symbol:USP48 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch UMLS:C1824731 semapv:UnspecifiedMatching OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:CHAC2 semapv:UnspecifiedMatching OMIM:617446 CHAC2 skos:exactMatch ncbigene:494143 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch UMLS:C1824731 semapv:UnspecifiedMatching OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:PAN2 semapv:UnspecifiedMatching OMIM:617447 PAN2 skos:exactMatch ncbigene:9924 semapv:UnspecifiedMatching OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:PAN3 semapv:UnspecifiedMatching OMIM:617448 PAN3 skos:exactMatch ncbigene:255967 semapv:UnspecifiedMatching -OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:TMEM260 semapv:UnspecifiedMatching OMIM:617449 TMEM260 skos:exactMatch ncbigene:54916 semapv:UnspecifiedMatching -OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:AKR1E2 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:TMEM260 semapv:UnspecifiedMatching OMIM:617451 AKR1E2 skos:exactMatch ncbigene:83592 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:AKR1E2 semapv:UnspecifiedMatching +OMIM:617453 TTC26 skos:exactMatch hgnc.symbol:IFT56 semapv:UnspecifiedMatching OMIM:617453 TTC26 skos:exactMatch ncbigene:79989 semapv:UnspecifiedMatching -OMIM:617453 TTC26 skos:exactMatch hgnc.symbol:TTC26 semapv:UnspecifiedMatching OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:POLR3C semapv:UnspecifiedMatching OMIM:617454 POLR3C skos:exactMatch ncbigene:10623 semapv:UnspecifiedMatching OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:POLR3F semapv:UnspecifiedMatching OMIM:617455 POLR3F skos:exactMatch ncbigene:10621 semapv:UnspecifiedMatching OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:POLR3G semapv:UnspecifiedMatching OMIM:617456 POLR3G skos:exactMatch ncbigene:10622 semapv:UnspecifiedMatching -OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:POLR3GL semapv:UnspecifiedMatching OMIM:617457 POLR3GL skos:exactMatch ncbigene:84265 semapv:UnspecifiedMatching -OMIM:617458 PRKRIP1 skos:exactMatch ncbigene:79706 semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:POLR3GL semapv:UnspecifiedMatching OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:PRKRIP1 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch ncbigene:79706 semapv:UnspecifiedMatching OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:TMCC3 semapv:UnspecifiedMatching OMIM:617459 TMCC3 skos:exactMatch ncbigene:57458 semapv:UnspecifiedMatching OMIM:617461 YBEY skos:exactMatch hgnc.symbol:YBEY semapv:UnspecifiedMatching OMIM:617461 YBEY skos:exactMatch ncbigene:54059 semapv:UnspecifiedMatching -OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:PPRC1 semapv:UnspecifiedMatching OMIM:617462 PPRC1 skos:exactMatch ncbigene:23082 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:PPRC1 semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch ncbigene:64718 semapv:UnspecifiedMatching OMIM:617463 UNKL skos:exactMatch hgnc.symbol:UNKL semapv:UnspecifiedMatching OMIM:617463 UNKL skos:exactMatch UMLS:C1422471 semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch ncbigene:64718 semapv:UnspecifiedMatching -OMIM:617464 UNC5CL skos:exactMatch ncbigene:222643 semapv:UnspecifiedMatching OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:UNC5CL semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch ncbigene:222643 semapv:UnspecifiedMatching OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:SMIM20 semapv:UnspecifiedMatching OMIM:617465 SMIM20 skos:exactMatch ncbigene:389203 semapv:UnspecifiedMatching OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:FRMD4B semapv:UnspecifiedMatching @@ -38949,18 +38953,18 @@ OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching OMIM:617469 AFG1L skos:exactMatch ncbigene:246269 semapv:UnspecifiedMatching OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:AFG1L semapv:UnspecifiedMatching -OMIM:617470 USPL1 skos:exactMatch ncbigene:10208 semapv:UnspecifiedMatching OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:USPL1 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch ncbigene:10208 semapv:UnspecifiedMatching OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:SERPINA12 semapv:UnspecifiedMatching OMIM:617471 SERPINA12 skos:exactMatch ncbigene:145264 semapv:UnspecifiedMatching OMIM:617472 TNN skos:exactMatch hgnc.symbol:TNN semapv:UnspecifiedMatching OMIM:617472 TNN skos:exactMatch ncbigene:63923 semapv:UnspecifiedMatching OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:ATP5MG semapv:UnspecifiedMatching OMIM:617473 ATP5L skos:exactMatch ncbigene:10632 semapv:UnspecifiedMatching -OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:ZNF609 semapv:UnspecifiedMatching OMIM:617474 ZNF609 skos:exactMatch ncbigene:23060 semapv:UnspecifiedMatching -OMIM:617475 specific granule deficiency 2 skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:ZNF609 semapv:UnspecifiedMatching OMIM:617475 specific granule deficiency 2 skos:exactMatch UMLS:C4479548 semapv:UnspecifiedMatching +OMIM:617475 specific granule deficiency 2 skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:CNKSR3 semapv:UnspecifiedMatching OMIM:617476 CNKSR3 skos:exactMatch ncbigene:154043 semapv:UnspecifiedMatching OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:ZNF324 semapv:UnspecifiedMatching @@ -38970,183 +38974,183 @@ OMIM:617479 SSUH2 skos:exactMatch ncbigene:51066 semapv:UnspecifiedMatching OMIM:617480 46,xx sex reversal 4 skos:exactMatch UMLS:C4479552 semapv:UnspecifiedMatching OMIM:617482 TP53TG3 skos:exactMatch ncbigene:24150 semapv:UnspecifiedMatching OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:TP53TG3 semapv:UnspecifiedMatching -OMIM:617483 CNIH4 skos:exactMatch ncbigene:29097 semapv:UnspecifiedMatching OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:CNIH4 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch ncbigene:29097 semapv:UnspecifiedMatching OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:GTSF1 semapv:UnspecifiedMatching OMIM:617484 GTSF1 skos:exactMatch ncbigene:121355 semapv:UnspecifiedMatching OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:WDFY3 semapv:UnspecifiedMatching OMIM:617485 WDFY3 skos:exactMatch ncbigene:23001 semapv:UnspecifiedMatching OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:GPATCH3 semapv:UnspecifiedMatching OMIM:617486 GPATCH3 skos:exactMatch ncbigene:63906 semapv:UnspecifiedMatching -OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:DNAJB14 semapv:UnspecifiedMatching OMIM:617487 DNAJB14 skos:exactMatch ncbigene:79982 semapv:UnspecifiedMatching -OMIM:617488 RPUSD4 skos:exactMatch ncbigene:84881 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:DNAJB14 semapv:UnspecifiedMatching OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:RPUSD4 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch ncbigene:84881 semapv:UnspecifiedMatching OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:LINC00305 semapv:UnspecifiedMatching OMIM:617489 LINC00305 skos:exactMatch ncbigene:221241 semapv:UnspecifiedMatching OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:CATSPERD semapv:UnspecifiedMatching OMIM:617490 CATSPERD skos:exactMatch ncbigene:257062 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch ncbigene:63899 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:NSUN3 semapv:UnspecifiedMatching OMIM:617491 NSUN3 skos:exactMatch UMLS:C1538490 semapv:UnspecifiedMatching OMIM:617491 NSUN3 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:NSUN3 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch ncbigene:63899 semapv:UnspecifiedMatching OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:OLFM2 semapv:UnspecifiedMatching OMIM:617492 OLFM2 skos:exactMatch ncbigene:93145 semapv:UnspecifiedMatching -OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching +OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617494 EML2 skos:exactMatch hgnc.symbol:EML2 semapv:UnspecifiedMatching OMIM:617494 EML2 skos:exactMatch ncbigene:24139 semapv:UnspecifiedMatching OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching OMIM:617495 FAM19A1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching -OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching OMIM:617496 FAM19A2 skos:exactMatch ncbigene:338811 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:TAFA3 semapv:UnspecifiedMatching OMIM:617497 FAM19A3 skos:exactMatch ncbigene:284467 semapv:UnspecifiedMatching -OMIM:617498 FAM19A4 skos:exactMatch ncbigene:151647 semapv:UnspecifiedMatching OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:TAFA4 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch ncbigene:151647 semapv:UnspecifiedMatching OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:TAFA5 semapv:UnspecifiedMatching OMIM:617499 FAM19A5 skos:exactMatch ncbigene:25817 semapv:UnspecifiedMatching OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:UCA1 semapv:UnspecifiedMatching OMIM:617500 UCA1 skos:exactMatch ncbigene:652995 semapv:UnspecifiedMatching -OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:KAT14 semapv:UnspecifiedMatching OMIM:617501 KAT14 skos:exactMatch ncbigene:57325 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch ncbigene:55255 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:KAT14 semapv:UnspecifiedMatching OMIM:617502 WDR41 skos:exactMatch UMLS:C1538082 semapv:UnspecifiedMatching OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:WDR41 semapv:UnspecifiedMatching -OMIM:617503 DENND3 skos:exactMatch ncbigene:22898 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch ncbigene:55255 semapv:UnspecifiedMatching OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:DENND3 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch ncbigene:22898 semapv:UnspecifiedMatching OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:SIPA1L1 semapv:UnspecifiedMatching OMIM:617504 SIPA1L1 skos:exactMatch ncbigene:26037 semapv:UnspecifiedMatching OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:TRAM1L1 semapv:UnspecifiedMatching OMIM:617505 TRAM1L1 skos:exactMatch ncbigene:133022 semapv:UnspecifiedMatching -OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:ZNF598 semapv:UnspecifiedMatching OMIM:617508 ZNF598 skos:exactMatch ncbigene:90850 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:ZNF598 semapv:UnspecifiedMatching OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:VWA8 semapv:UnspecifiedMatching OMIM:617509 VWA8 skos:exactMatch ncbigene:23078 semapv:UnspecifiedMatching -OMIM:617510 CATSPERE skos:exactMatch ncbigene:257044 semapv:UnspecifiedMatching OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:CATSPERE semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch ncbigene:257044 semapv:UnspecifiedMatching OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:CATSPERZ semapv:UnspecifiedMatching OMIM:617511 CATSPERZ skos:exactMatch ncbigene:25858 semapv:UnspecifiedMatching OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:ZNF318 semapv:UnspecifiedMatching OMIM:617512 ZNF318 skos:exactMatch ncbigene:24149 semapv:UnspecifiedMatching -OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:OGDHL semapv:UnspecifiedMatching OMIM:617513 OGDHL skos:exactMatch ncbigene:55753 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch ncbigene:84236 semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:OGDHL semapv:UnspecifiedMatching OMIM:617515 RHBDD1 skos:exactMatch UMLS:C1826822 semapv:UnspecifiedMatching OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:RHBDD1 semapv:UnspecifiedMatching -OMIM:617517 RPS6KC1 skos:exactMatch ncbigene:26750 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch ncbigene:84236 semapv:UnspecifiedMatching OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:RPS6KC1 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch ncbigene:26750 semapv:UnspecifiedMatching OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:BSDC1 semapv:UnspecifiedMatching OMIM:617518 BSDC1 skos:exactMatch ncbigene:55108 semapv:UnspecifiedMatching OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:YIPF1 semapv:UnspecifiedMatching OMIM:617521 YIPF1 skos:exactMatch ncbigene:54432 semapv:UnspecifiedMatching -OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:YIPF2 semapv:UnspecifiedMatching OMIM:617522 YIPF2 skos:exactMatch ncbigene:78992 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:YIPF2 semapv:UnspecifiedMatching OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching -OMIM:617528 PSMG3 skos:exactMatch ncbigene:84262 semapv:UnspecifiedMatching OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:PSMG3 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch ncbigene:84262 semapv:UnspecifiedMatching OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:FASTKD1 semapv:UnspecifiedMatching OMIM:617529 FASTKD1 skos:exactMatch ncbigene:79675 semapv:UnspecifiedMatching OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:FASTKD3 semapv:UnspecifiedMatching OMIM:617530 FASTKD3 skos:exactMatch ncbigene:79072 semapv:UnspecifiedMatching -OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:COLGALT1 semapv:UnspecifiedMatching OMIM:617531 COLGALT1 skos:exactMatch ncbigene:79709 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:COLGALT1 semapv:UnspecifiedMatching OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:COLGALT2 semapv:UnspecifiedMatching OMIM:617533 COLGALT2 skos:exactMatch ncbigene:23127 semapv:UnspecifiedMatching -OMIM:617534 YIPF4 skos:exactMatch ncbigene:84272 semapv:UnspecifiedMatching OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:YIPF4 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch ncbigene:84272 semapv:UnspecifiedMatching OMIM:617535 FAIM skos:exactMatch hgnc.symbol:FAIM semapv:UnspecifiedMatching OMIM:617535 FAIM skos:exactMatch ncbigene:55179 semapv:UnspecifiedMatching OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:BAIAP2L2 semapv:UnspecifiedMatching OMIM:617536 BAIAP2L2 skos:exactMatch ncbigene:80115 semapv:UnspecifiedMatching -OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:EFL1 semapv:UnspecifiedMatching OMIM:617538 EFL1 skos:exactMatch ncbigene:79631 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch ncbigene:23155 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:CLCC1 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:EFL1 semapv:UnspecifiedMatching OMIM:617539 CLCC1 skos:exactMatch UMLS:C1824741 semapv:UnspecifiedMatching OMIM:617539 CLCC1 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:CLCC1 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch ncbigene:23155 semapv:UnspecifiedMatching OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:ANKZF1 semapv:UnspecifiedMatching OMIM:617541 ANKZF1 skos:exactMatch ncbigene:55139 semapv:UnspecifiedMatching -OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:PCGF3 semapv:UnspecifiedMatching OMIM:617543 PCGF3 skos:exactMatch ncbigene:10336 semapv:UnspecifiedMatching -OMIM:617544 LINC00672 skos:exactMatch hgnc.symbol:LASP1NB semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:PCGF3 semapv:UnspecifiedMatching OMIM:617544 LINC00672 skos:exactMatch ncbigene:100505576 semapv:UnspecifiedMatching +OMIM:617544 LINC00672 skos:exactMatch hgnc.symbol:LASP1NB semapv:UnspecifiedMatching OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:MCMDC2 semapv:UnspecifiedMatching OMIM:617545 MCMDC2 skos:exactMatch ncbigene:157777 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch ncbigene:391723 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch hgnc.symbol:HELT semapv:UnspecifiedMatching OMIM:617546 HELT skos:exactMatch UMLS:C2681564 semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch hgnc.symbol:HELT semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch ncbigene:391723 semapv:UnspecifiedMatching OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:WFDC2 semapv:UnspecifiedMatching OMIM:617548 WFDC2 skos:exactMatch ncbigene:10406 semapv:UnspecifiedMatching -OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:TP53INP2 semapv:UnspecifiedMatching OMIM:617549 TP53INP2 skos:exactMatch ncbigene:58476 semapv:UnspecifiedMatching -OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:PSMG4 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:TP53INP2 semapv:UnspecifiedMatching OMIM:617550 PSMG4 skos:exactMatch ncbigene:389362 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:PSMG4 semapv:UnspecifiedMatching OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:SIDT2 semapv:UnspecifiedMatching OMIM:617551 SIDT2 skos:exactMatch ncbigene:51092 semapv:UnspecifiedMatching -OMIM:617552 ARHGEF26 skos:exactMatch ncbigene:26084 semapv:UnspecifiedMatching OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:ARHGEF26 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch ncbigene:26084 semapv:UnspecifiedMatching OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:FCGBP semapv:UnspecifiedMatching OMIM:617553 FCGBP skos:exactMatch ncbigene:8857 semapv:UnspecifiedMatching OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:FGD3 semapv:UnspecifiedMatching OMIM:617554 FGD3 skos:exactMatch ncbigene:89846 semapv:UnspecifiedMatching -OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:FCHSD1 semapv:UnspecifiedMatching OMIM:617555 FCHSD1 skos:exactMatch ncbigene:89848 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:FCHSD1 semapv:UnspecifiedMatching OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:FCHSD2 semapv:UnspecifiedMatching OMIM:617556 FCHSD2 skos:exactMatch ncbigene:9873 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch ncbigene:80217 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:CFAP43 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch UMLS:C1538396 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching -OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:CFAP44 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:CFAP43 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch ncbigene:80217 semapv:UnspecifiedMatching OMIM:617559 CFAP44 skos:exactMatch ncbigene:55779 semapv:UnspecifiedMatching -OMIM:617561 cohen-gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:CFAP44 semapv:UnspecifiedMatching OMIM:617561 cohen-gibson syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +OMIM:617561 cohen-gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching OMIM:617565 perrault syndrome 6 skos:exactMatch UMLS:C4479656 semapv:UnspecifiedMatching OMIM:617565 perrault syndrome 6 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching -OMIM:617566 ZNF568 skos:exactMatch ncbigene:374900 semapv:UnspecifiedMatching OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:ZNF568 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch ncbigene:374900 semapv:UnspecifiedMatching OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:TPD52L3 semapv:UnspecifiedMatching OMIM:617567 TPD52L3 skos:exactMatch ncbigene:89882 semapv:UnspecifiedMatching OMIM:617568 USF3 skos:exactMatch hgnc.symbol:USF3 semapv:UnspecifiedMatching OMIM:617568 USF3 skos:exactMatch ncbigene:205717 semapv:UnspecifiedMatching -OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:KIF15 semapv:UnspecifiedMatching OMIM:617569 KIF15 skos:exactMatch ncbigene:56992 semapv:UnspecifiedMatching -OMIM:617570 DZIP1L skos:exactMatch ncbigene:199221 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:KIF15 semapv:UnspecifiedMatching OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:DZIP1L semapv:UnspecifiedMatching -OMIM:617573 CLEC12B skos:exactMatch ncbigene:387837 semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch ncbigene:199221 semapv:UnspecifiedMatching OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:CLEC12B semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch ncbigene:387837 semapv:UnspecifiedMatching OMIM:617578 FERD3L skos:exactMatch UMLS:C1424474 semapv:UnspecifiedMatching OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:FERD3L semapv:UnspecifiedMatching OMIM:617578 FERD3L skos:exactMatch ncbigene:222894 semapv:UnspecifiedMatching -OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:CLDN10 semapv:UnspecifiedMatching OMIM:617579 CLDN10 skos:exactMatch ncbigene:9071 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:CLDN10 semapv:UnspecifiedMatching OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:TSPAN16 semapv:UnspecifiedMatching OMIM:617580 TSPAN16 skos:exactMatch ncbigene:26526 semapv:UnspecifiedMatching -OMIM:617581 C2CD2 skos:exactMatch ncbigene:25966 semapv:UnspecifiedMatching OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:C2CD2 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch ncbigene:25966 semapv:UnspecifiedMatching OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:C2CD2L semapv:UnspecifiedMatching OMIM:617582 C2CD2L skos:exactMatch ncbigene:9854 semapv:UnspecifiedMatching OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:SRXN1 semapv:UnspecifiedMatching OMIM:617583 SRXN1 skos:exactMatch ncbigene:140809 semapv:UnspecifiedMatching -OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:FARP2 semapv:UnspecifiedMatching OMIM:617586 FARP2 skos:exactMatch ncbigene:9855 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:FARP2 semapv:UnspecifiedMatching OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:SPRR2D semapv:UnspecifiedMatching OMIM:617587 SPRR2D skos:exactMatch ncbigene:6703 semapv:UnspecifiedMatching -OMIM:617588 SPRR2E skos:exactMatch ncbigene:6704 semapv:UnspecifiedMatching OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:SPRR2E semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch ncbigene:6704 semapv:UnspecifiedMatching OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:SPRR2F semapv:UnspecifiedMatching OMIM:617589 SPRR2F skos:exactMatch ncbigene:6705 semapv:UnspecifiedMatching OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:SPRR2G semapv:UnspecifiedMatching OMIM:617590 SPRR2G skos:exactMatch ncbigene:6706 semapv:UnspecifiedMatching OMIM:617591 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch UMLS:C4747850 semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch ncbigene:79864 semapv:UnspecifiedMatching OMIM:617594 JHY skos:exactMatch UMLS:C1824329 semapv:UnspecifiedMatching OMIM:617594 JHY skos:exactMatch hgnc.symbol:JHY semapv:UnspecifiedMatching -OMIM:617595 birk-landau-perez syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch ncbigene:79864 semapv:UnspecifiedMatching OMIM:617595 birk-landau-perez syndrome skos:exactMatch UMLS:C4539828 semapv:UnspecifiedMatching +OMIM:617595 birk-landau-perez syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:RETSAT semapv:UnspecifiedMatching OMIM:617597 RETSAT skos:exactMatch ncbigene:54884 semapv:UnspecifiedMatching OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching @@ -39156,13 +39160,13 @@ OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:RBM24 semapv:UnspecifiedMatching OMIM:617603 RBM24 skos:exactMatch ncbigene:221662 semapv:UnspecifiedMatching OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:ALPK3 semapv:UnspecifiedMatching OMIM:617608 ALPK3 skos:exactMatch ncbigene:57538 semapv:UnspecifiedMatching -OMIM:617611 PIMREG skos:exactMatch ncbigene:54478 semapv:UnspecifiedMatching OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:PIMREG semapv:UnspecifiedMatching -OMIM:617612 ARMC9 skos:exactMatch ncbigene:80210 semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch ncbigene:54478 semapv:UnspecifiedMatching OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:ARMC9 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch ncbigene:80210 semapv:UnspecifiedMatching OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching -OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:SPOUT1 semapv:UnspecifiedMatching OMIM:617614 SPOUT1 skos:exactMatch ncbigene:51490 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:SPOUT1 semapv:UnspecifiedMatching OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:TMEM258 semapv:UnspecifiedMatching OMIM:617615 TMEM258 skos:exactMatch ncbigene:746 semapv:UnspecifiedMatching OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:SPRY4-IT1 semapv:UnspecifiedMatching @@ -39171,15 +39175,15 @@ OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:TOGARAM1 semapv:UnspecifiedMatc OMIM:617618 TOGARAM1 skos:exactMatch ncbigene:23116 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch ncbigene:55154 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:MSTO1 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540597 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540596 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch UMLS:C1826310 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540597 semapv:UnspecifiedMatching OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:LRRC3 semapv:UnspecifiedMatching OMIM:617620 LRRC3 skos:exactMatch ncbigene:81543 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch ncbigene:94104 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch UMLS:C1422075 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:PAXBP1 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch ncbigene:94104 semapv:UnspecifiedMatching OMIM:617623 SPDYE1 skos:exactMatch ncbigene:285955 semapv:UnspecifiedMatching OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:SPDYE1 semapv:UnspecifiedMatching OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:SPDYE2 semapv:UnspecifiedMatching @@ -39198,19 +39202,19 @@ OMIM:617631 IQCE skos:exactMatch hgnc.symbol:IQCE semapv:UnspecifiedMatching OMIM:617631 IQCE skos:exactMatch ncbigene:23288 semapv:UnspecifiedMatching OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:EFCAB7 semapv:UnspecifiedMatching OMIM:617632 EFCAB7 skos:exactMatch ncbigene:84455 semapv:UnspecifiedMatching -OMIM:617634 CCER2 skos:exactMatch ncbigene:643669 semapv:UnspecifiedMatching OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:CCER2 semapv:UnspecifiedMatching -OMIM:617636 GPR1AS skos:exactMatch ncbigene:101669764 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch ncbigene:643669 semapv:UnspecifiedMatching OMIM:617636 GPR1AS skos:exactMatch hgnc.symbol:CMKLR2-AS semapv:UnspecifiedMatching -OMIM:617640 ST7L skos:exactMatch hgnc.symbol:ST7L semapv:UnspecifiedMatching +OMIM:617636 GPR1AS skos:exactMatch ncbigene:101669764 semapv:UnspecifiedMatching OMIM:617640 ST7L skos:exactMatch ncbigene:54879 semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch hgnc.symbol:ST7L semapv:UnspecifiedMatching OMIM:617642 polydactyly, postaxial, iia a7 skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching -OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:KBTBD4 semapv:UnspecifiedMatching OMIM:617645 KBTBD4 skos:exactMatch ncbigene:55709 semapv:UnspecifiedMatching -OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:BAHCC1 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:KBTBD4 semapv:UnspecifiedMatching OMIM:617646 BAHCC1 skos:exactMatch ncbigene:57597 semapv:UnspecifiedMatching -OMIM:617647 PCAT18 skos:exactMatch ncbigene:728606 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:BAHCC1 semapv:UnspecifiedMatching OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:PCAT18 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch ncbigene:728606 semapv:UnspecifiedMatching OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:BMP2K semapv:UnspecifiedMatching OMIM:617648 BMP2K skos:exactMatch ncbigene:55589 semapv:UnspecifiedMatching OMIM:617649 UBE2O skos:exactMatch UMLS:C1823570 semapv:UnspecifiedMatching @@ -39218,10 +39222,10 @@ OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:UBE2O semapv:UnspecifiedMatching OMIM:617649 UBE2O skos:exactMatch ncbigene:63893 semapv:UnspecifiedMatching OMIM:617650 PACERR skos:exactMatch hgnc.symbol:PACERR semapv:UnspecifiedMatching OMIM:617650 PACERR skos:exactMatch ncbigene:103752588 semapv:UnspecifiedMatching -OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:MOB3B semapv:UnspecifiedMatching OMIM:617652 MOB3B skos:exactMatch ncbigene:79817 semapv:UnspecifiedMatching -OMIM:617653 EQTN skos:exactMatch ncbigene:54586 semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:MOB3B semapv:UnspecifiedMatching OMIM:617653 EQTN skos:exactMatch hgnc.symbol:EQTN semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch ncbigene:54586 semapv:UnspecifiedMatching OMIM:617655 PCNX1 skos:exactMatch UMLS:C1426376 semapv:UnspecifiedMatching OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:PCNX1 semapv:UnspecifiedMatching OMIM:617655 PCNX1 skos:exactMatch ncbigene:22990 semapv:UnspecifiedMatching @@ -39241,75 +39245,75 @@ OMIM:617665 developmental and epileptic encephalopathy 56 skos:exactMatch UMLS:C OMIM:617667 fraser syndrome 3 skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching OMIM:617667 fraser syndrome 3 skos:exactMatch UMLS:C4540040 semapv:UnspecifiedMatching OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch UMLS:C4540052 semapv:UnspecifiedMatching -OMIM:617670 MEIOB skos:exactMatch ncbigene:254528 semapv:UnspecifiedMatching OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:MEIOB semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch ncbigene:254528 semapv:UnspecifiedMatching OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:SPATA22 semapv:UnspecifiedMatching OMIM:617673 SPATA22 skos:exactMatch ncbigene:84690 semapv:UnspecifiedMatching OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:SERP1 semapv:UnspecifiedMatching OMIM:617674 SERP1 skos:exactMatch ncbigene:27230 semapv:UnspecifiedMatching -OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching -OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:PSMD3 semapv:UnspecifiedMatching +OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching OMIM:617676 PSMD3 skos:exactMatch ncbigene:5709 semapv:UnspecifiedMatching -OMIM:617678 PCAT2 skos:exactMatch ncbigene:103164619 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:PSMD3 semapv:UnspecifiedMatching OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:PCAT2 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch ncbigene:103164619 semapv:UnspecifiedMatching OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:KLHL20 semapv:UnspecifiedMatching OMIM:617679 KLHL20 skos:exactMatch ncbigene:27252 semapv:UnspecifiedMatching OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:SSU72 semapv:UnspecifiedMatching OMIM:617680 SSU72 skos:exactMatch ncbigene:29101 semapv:UnspecifiedMatching OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:EGFLAM semapv:UnspecifiedMatching OMIM:617683 EGFLAM skos:exactMatch ncbigene:133584 semapv:UnspecifiedMatching -OMIM:617684 LYAR skos:exactMatch hgnc.symbol:LYAR semapv:UnspecifiedMatching OMIM:617684 LYAR skos:exactMatch ncbigene:55646 semapv:UnspecifiedMatching -OMIM:617685 CDH26 skos:exactMatch ncbigene:60437 semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch hgnc.symbol:LYAR semapv:UnspecifiedMatching OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:CDH26 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch ncbigene:60437 semapv:UnspecifiedMatching OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:TBC1D23 semapv:UnspecifiedMatching OMIM:617687 TBC1D23 skos:exactMatch ncbigene:55773 semapv:UnspecifiedMatching OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:PARM1 semapv:UnspecifiedMatching OMIM:617688 PARM1 skos:exactMatch ncbigene:25849 semapv:UnspecifiedMatching OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:CSDC2 semapv:UnspecifiedMatching OMIM:617689 CSDC2 skos:exactMatch ncbigene:27254 semapv:UnspecifiedMatching -OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:PRDM15 semapv:UnspecifiedMatching OMIM:617692 PRDM15 skos:exactMatch ncbigene:63977 semapv:UnspecifiedMatching -OMIM:617693 VIT skos:exactMatch ncbigene:5212 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:PRDM15 semapv:UnspecifiedMatching OMIM:617693 VIT skos:exactMatch hgnc.symbol:VIT semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch ncbigene:5212 semapv:UnspecifiedMatching OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:LINC01488 semapv:UnspecifiedMatching OMIM:617696 LINC01488 skos:exactMatch ncbigene:101928292 semapv:UnspecifiedMatching OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:LINC02747 semapv:UnspecifiedMatching OMIM:617697 LINC02747 skos:exactMatch ncbigene:105379407 semapv:UnspecifiedMatching -OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching +OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch ncbigene:79018 semapv:UnspecifiedMatching OMIM:617699 GID4 skos:exactMatch hgnc.symbol:GID4 semapv:UnspecifiedMatching OMIM:617699 GID4 skos:exactMatch UMLS:C3539395 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch ncbigene:79018 semapv:UnspecifiedMatching -OMIM:617700 UBE2F skos:exactMatch ncbigene:140739 semapv:UnspecifiedMatching OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:UBE2F semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch ncbigene:140739 semapv:UnspecifiedMatching OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:CASC8 semapv:UnspecifiedMatching OMIM:617701 CASC8 skos:exactMatch ncbigene:727677 semapv:UnspecifiedMatching OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:CASC21 semapv:UnspecifiedMatching OMIM:617702 CASC21 skos:exactMatch ncbigene:103021164 semapv:UnspecifiedMatching -OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:CASC19 semapv:UnspecifiedMatching OMIM:617703 CASC19 skos:exactMatch ncbigene:103021165 semapv:UnspecifiedMatching -OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:CASC11 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:CASC19 semapv:UnspecifiedMatching OMIM:617704 CASC11 skos:exactMatch ncbigene:100270680 semapv:UnspecifiedMatching -OMIM:617705 CCAT1 skos:exactMatch ncbigene:100507056 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:CASC11 semapv:UnspecifiedMatching OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:CCAT1 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch ncbigene:100507056 semapv:UnspecifiedMatching OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:CDC123 semapv:UnspecifiedMatching OMIM:617708 CDC123 skos:exactMatch ncbigene:8872 semapv:UnspecifiedMatching OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:CAVIN4 semapv:UnspecifiedMatching OMIM:617714 CAVIN4 skos:exactMatch ncbigene:347273 semapv:UnspecifiedMatching OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:MALRD1 semapv:UnspecifiedMatching OMIM:617715 MALRD1 skos:exactMatch ncbigene:340895 semapv:UnspecifiedMatching -OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:ARHGAP44 semapv:UnspecifiedMatching OMIM:617716 ARHGAP44 skos:exactMatch ncbigene:9912 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:ARHGAP44 semapv:UnspecifiedMatching OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:PPP1R42 semapv:UnspecifiedMatching OMIM:617720 PPP1R42 skos:exactMatch ncbigene:286187 semapv:UnspecifiedMatching OMIM:617721 neuronopathy, distal hereditary motor, iia 9 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:TXNL4B semapv:UnspecifiedMatching OMIM:617722 TXNL4B skos:exactMatch ncbigene:54957 semapv:UnspecifiedMatching -OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:RRP12 semapv:UnspecifiedMatching OMIM:617723 RRP12 skos:exactMatch ncbigene:23223 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:RRP12 semapv:UnspecifiedMatching OMIM:617724 TSC22D2 skos:exactMatch ncbigene:9819 semapv:UnspecifiedMatching OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:TSC22D2 semapv:UnspecifiedMatching OMIM:617725 FUOM skos:exactMatch hgnc.symbol:FUOM semapv:UnspecifiedMatching @@ -39320,51 +39324,51 @@ OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:TM9SF4 semapv:UnspecifiedMatching OMIM:617727 TM9SF4 skos:exactMatch ncbigene:9777 semapv:UnspecifiedMatching OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:CEP295 semapv:UnspecifiedMatching OMIM:617728 CEP295 skos:exactMatch ncbigene:85459 semapv:UnspecifiedMatching -OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:ZNF518A semapv:UnspecifiedMatching OMIM:617733 ZNF518A skos:exactMatch ncbigene:9849 semapv:UnspecifiedMatching -OMIM:617734 ZNF518B skos:exactMatch ncbigene:85460 semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:ZNF518A semapv:UnspecifiedMatching OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:ZNF518B semapv:UnspecifiedMatching -OMIM:617735 C10ORF90 skos:exactMatch ncbigene:118611 semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch ncbigene:85460 semapv:UnspecifiedMatching OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:C10orf90 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch ncbigene:118611 semapv:UnspecifiedMatching OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:MORN4 semapv:UnspecifiedMatching OMIM:617736 MORN4 skos:exactMatch ncbigene:118812 semapv:UnspecifiedMatching OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:SMPDL3B semapv:UnspecifiedMatching OMIM:617737 SMPDL3B skos:exactMatch ncbigene:27293 semapv:UnspecifiedMatching -OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:KBTBD6 semapv:UnspecifiedMatching OMIM:617738 KBTBD6 skos:exactMatch ncbigene:89890 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:KBTBD6 semapv:UnspecifiedMatching OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:KBTBD7 semapv:UnspecifiedMatching OMIM:617739 KBTBD7 skos:exactMatch ncbigene:84078 semapv:UnspecifiedMatching -OMIM:617740 VSIG10L skos:exactMatch ncbigene:147645 semapv:UnspecifiedMatching OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:VSIG10L semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch ncbigene:147645 semapv:UnspecifiedMatching OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:WDR20 semapv:UnspecifiedMatching OMIM:617741 WDR20 skos:exactMatch ncbigene:91833 semapv:UnspecifiedMatching OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:KANSL3 semapv:UnspecifiedMatching OMIM:617742 KANSL3 skos:exactMatch ncbigene:55683 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch UMLS:C3470954 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch UMLS:C4694043 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:MFSD12 semapv:UnspecifiedMatching OMIM:617745 MFSD12 skos:exactMatch ncbigene:126321 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:MFSD12 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch UMLS:C4694043 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch UMLS:C3470954 semapv:UnspecifiedMatching OMIM:617746 sweeney-cox syndrome skos:exactMatch UMLS:C4540299 semapv:UnspecifiedMatching -OMIM:617747 SP140L skos:exactMatch ncbigene:93349 semapv:UnspecifiedMatching OMIM:617747 SP140L skos:exactMatch hgnc.symbol:SP140L semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch ncbigene:93349 semapv:UnspecifiedMatching OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:TDRD5 semapv:UnspecifiedMatching OMIM:617748 TDRD5 skos:exactMatch ncbigene:163589 semapv:UnspecifiedMatching OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:LIMCH1 semapv:UnspecifiedMatching OMIM:617750 LIMCH1 skos:exactMatch ncbigene:22998 semapv:UnspecifiedMatching -OMIM:617752 clark-baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching OMIM:617752 clark-baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching +OMIM:617752 clark-baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:RIOK1 semapv:UnspecifiedMatching OMIM:617753 RIOK1 skos:exactMatch ncbigene:83732 semapv:UnspecifiedMatching -OMIM:617754 RIOK2 skos:exactMatch ncbigene:55781 semapv:UnspecifiedMatching OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:RIOK2 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch ncbigene:55781 semapv:UnspecifiedMatching OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:ZNF692 semapv:UnspecifiedMatching OMIM:617758 ZNF692 skos:exactMatch ncbigene:55657 semapv:UnspecifiedMatching OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:RPUSD3 semapv:UnspecifiedMatching OMIM:617759 RPUSD3 skos:exactMatch ncbigene:285367 semapv:UnspecifiedMatching -OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:ZER1 semapv:UnspecifiedMatching OMIM:617764 ZER1 skos:exactMatch ncbigene:10444 semapv:UnspecifiedMatching -OMIM:617766 FAM192A skos:exactMatch ncbigene:80011 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:ZER1 semapv:UnspecifiedMatching OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:PSME3IP1 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch ncbigene:80011 semapv:UnspecifiedMatching OMIM:617767 joubert syndrome 33 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching OMIM:617771 developmental and epileptic encephalopathy 57 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching OMIM:617772 deafness, autosomal dominant 34, with or without inflammation skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching @@ -39372,133 +39376,133 @@ OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:LONP2 semapv:UnspecifiedMatching OMIM:617774 LONP2 skos:exactMatch ncbigene:83752 semapv:UnspecifiedMatching OMIM:617775 C10ORF99 skos:exactMatch hgnc.symbol:GPR15LG semapv:UnspecifiedMatching OMIM:617775 C10ORF99 skos:exactMatch ncbigene:387695 semapv:UnspecifiedMatching -OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:BAGE2 semapv:UnspecifiedMatching OMIM:617776 BAGE2 skos:exactMatch ncbigene:85319 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:BAGE2 semapv:UnspecifiedMatching OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:BAGE3 semapv:UnspecifiedMatching OMIM:617777 BAGE3 skos:exactMatch ncbigene:85318 semapv:UnspecifiedMatching -OMIM:617778 TXNDC15 skos:exactMatch ncbigene:79770 semapv:UnspecifiedMatching OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:TXNDC15 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch ncbigene:79770 semapv:UnspecifiedMatching OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:TMEM256 semapv:UnspecifiedMatching OMIM:617779 TMEM256 skos:exactMatch ncbigene:254863 semapv:UnspecifiedMatching OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch UMLS:C4540434 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch ncbigene:80000 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:GREB1L semapv:UnspecifiedMatching OMIM:617782 GREB1L skos:exactMatch UMLS:C1429058 semapv:UnspecifiedMatching OMIM:617782 GREB1L skos:exactMatch UMLS:C4540497 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:GREB1L semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch ncbigene:80000 semapv:UnspecifiedMatching -OMIM:617785 PAPLN skos:exactMatch ncbigene:89932 semapv:UnspecifiedMatching OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:PAPLN semapv:UnspecifiedMatching -OMIM:617786 CCT8 skos:exactMatch ncbigene:10694 semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch ncbigene:89932 semapv:UnspecifiedMatching OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:CCT8 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch ncbigene:10694 semapv:UnspecifiedMatching OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:TXNDC8 semapv:UnspecifiedMatching OMIM:617789 TXNDC8 skos:exactMatch ncbigene:255220 semapv:UnspecifiedMatching -OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:TXNDC2 semapv:UnspecifiedMatching OMIM:617790 TXNDC2 skos:exactMatch ncbigene:84203 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:TXNDC2 semapv:UnspecifiedMatching OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:LRRCC1 semapv:UnspecifiedMatching OMIM:617791 LRRCC1 skos:exactMatch ncbigene:85444 semapv:UnspecifiedMatching OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:TXNDC11 semapv:UnspecifiedMatching OMIM:617792 TXNDC11 skos:exactMatch ncbigene:51061 semapv:UnspecifiedMatching -OMIM:617793 EEF1AKMT1 skos:exactMatch ncbigene:221143 semapv:UnspecifiedMatching OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:EEF1AKMT1 semapv:UnspecifiedMatching -OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:EEF1AKMT2 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch ncbigene:221143 semapv:UnspecifiedMatching OMIM:617794 EEF1AKMT2 skos:exactMatch ncbigene:399818 semapv:UnspecifiedMatching -OMIM:617795 EPOP skos:exactMatch hgnc.symbol:EPOP semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:EEF1AKMT2 semapv:UnspecifiedMatching OMIM:617795 EPOP skos:exactMatch ncbigene:100170841 semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch hgnc.symbol:EPOP semapv:UnspecifiedMatching OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch UMLS:C4540478 semapv:UnspecifiedMatching OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:617797 SRMS skos:exactMatch ncbigene:6725 semapv:UnspecifiedMatching OMIM:617797 SRMS skos:exactMatch hgnc.symbol:SRMS semapv:UnspecifiedMatching -OMIM:617801 CAP1 skos:exactMatch ncbigene:10487 semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch ncbigene:6725 semapv:UnspecifiedMatching OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:CAP1 semapv:UnspecifiedMatching -OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:TMEM26 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch ncbigene:10487 semapv:UnspecifiedMatching OMIM:617803 TMEM26 skos:exactMatch ncbigene:219623 semapv:UnspecifiedMatching -OMIM:617804 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:TMEM86B semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:TMEM26 semapv:UnspecifiedMatching +OMIM:617804 neurodevelopmental disorder with variable motor and language impairment skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching OMIM:617806 TMEM86B skos:exactMatch ncbigene:255043 semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:TMEM86B semapv:UnspecifiedMatching OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:SMU1 semapv:UnspecifiedMatching OMIM:617811 SMU1 skos:exactMatch ncbigene:55234 semapv:UnspecifiedMatching -OMIM:617812 SLC35G2 skos:exactMatch ncbigene:80723 semapv:UnspecifiedMatching OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:SLC35G2 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch ncbigene:80723 semapv:UnspecifiedMatching OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:TMEM88 semapv:UnspecifiedMatching OMIM:617813 TMEM88 skos:exactMatch ncbigene:92162 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch UMLS:C1823356 semapv:UnspecifiedMatching OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:TMEM95 semapv:UnspecifiedMatching OMIM:617814 TMEM95 skos:exactMatch ncbigene:339168 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch UMLS:C1823356 semapv:UnspecifiedMatching OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:POLR3E semapv:UnspecifiedMatching OMIM:617815 POLR3E skos:exactMatch ncbigene:55718 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch ncbigene:10844 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231550 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:TUBGCP2 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C1425637 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching -OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:TUBGCP3 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231550 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:TUBGCP2 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch ncbigene:10844 semapv:UnspecifiedMatching OMIM:617818 TUBGCP3 skos:exactMatch ncbigene:10426 semapv:UnspecifiedMatching -OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:RALGPS2 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:TUBGCP3 semapv:UnspecifiedMatching OMIM:617819 RALGPS2 skos:exactMatch ncbigene:55103 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:RALGPS2 semapv:UnspecifiedMatching OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:PWWP2A semapv:UnspecifiedMatching OMIM:617823 PWWP2A skos:exactMatch ncbigene:114825 semapv:UnspecifiedMatching OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:BRWD1 semapv:UnspecifiedMatching OMIM:617824 BRWD1 skos:exactMatch ncbigene:54014 semapv:UnspecifiedMatching -OMIM:617826 UNC50 skos:exactMatch ncbigene:25972 semapv:UnspecifiedMatching OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:UNC50 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch ncbigene:25972 semapv:UnspecifiedMatching OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:ZFHX2 semapv:UnspecifiedMatching OMIM:617828 ZFHX2 skos:exactMatch ncbigene:85446 semapv:UnspecifiedMatching -OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching OMIM:617832 SNTN skos:exactMatch hgnc.symbol:SNTN semapv:UnspecifiedMatching OMIM:617832 SNTN skos:exactMatch ncbigene:132203 semapv:UnspecifiedMatching -OMIM:617833 ZFHX2AS1 skos:exactMatch ncbigene:109729160 semapv:UnspecifiedMatching OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:ZFHX2-AS1 semapv:UnspecifiedMatching -OMIM:617834 PLEKHJ1 skos:exactMatch ncbigene:55111 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch ncbigene:109729160 semapv:UnspecifiedMatching OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:PLEKHJ1 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch ncbigene:55111 semapv:UnspecifiedMatching OMIM:617835 PDPR skos:exactMatch hgnc.symbol:PDPR semapv:UnspecifiedMatching OMIM:617835 PDPR skos:exactMatch ncbigene:55066 semapv:UnspecifiedMatching -OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:GFRAL semapv:UnspecifiedMatching OMIM:617837 GFRAL skos:exactMatch ncbigene:389400 semapv:UnspecifiedMatching -OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:FAM234B semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:GFRAL semapv:UnspecifiedMatching OMIM:617838 FAM234B skos:exactMatch ncbigene:57613 semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:FAM234B semapv:UnspecifiedMatching OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:TRIT1 semapv:UnspecifiedMatching OMIM:617840 TRIT1 skos:exactMatch ncbigene:54802 semapv:UnspecifiedMatching -OMIM:617841 PSMA8 skos:exactMatch ncbigene:143471 semapv:UnspecifiedMatching OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:PSMA8 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch ncbigene:143471 semapv:UnspecifiedMatching OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:PSMD1 semapv:UnspecifiedMatching OMIM:617842 PSMD1 skos:exactMatch ncbigene:5707 semapv:UnspecifiedMatching OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:RWDD2B semapv:UnspecifiedMatching OMIM:617843 RWDD2B skos:exactMatch ncbigene:10069 semapv:UnspecifiedMatching -OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:PSMD8 semapv:UnspecifiedMatching OMIM:617844 PSMD8 skos:exactMatch ncbigene:5714 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:PSMD8 semapv:UnspecifiedMatching OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:MFSD2B semapv:UnspecifiedMatching OMIM:617845 MFSD2B skos:exactMatch ncbigene:388931 semapv:UnspecifiedMatching -OMIM:617846 PHF5A skos:exactMatch ncbigene:84844 semapv:UnspecifiedMatching OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:PHF5A semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch ncbigene:84844 semapv:UnspecifiedMatching OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:SF3B5 semapv:UnspecifiedMatching OMIM:617847 SF3B5 skos:exactMatch ncbigene:83443 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch ncbigene:9879 semapv:UnspecifiedMatching OMIM:617848 DDX46 skos:exactMatch UMLS:C1425701 semapv:UnspecifiedMatching OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:DDX46 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch ncbigene:9879 semapv:UnspecifiedMatching -OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:U2SURP semapv:UnspecifiedMatching OMIM:617849 U2SURP skos:exactMatch ncbigene:23350 semapv:UnspecifiedMatching -OMIM:617850 SERTAD1 skos:exactMatch ncbigene:29950 semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:U2SURP semapv:UnspecifiedMatching OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:SERTAD1 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch ncbigene:29950 semapv:UnspecifiedMatching OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:SERTAD2 semapv:UnspecifiedMatching OMIM:617851 SERTAD2 skos:exactMatch ncbigene:9792 semapv:UnspecifiedMatching OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:SEC23IP semapv:UnspecifiedMatching OMIM:617852 SEC23IP skos:exactMatch ncbigene:11196 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch UMLS:C1824548 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch UMLS:C1824548 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching -OMIM:617856 THEMIS2 skos:exactMatch ncbigene:9473 semapv:UnspecifiedMatching OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch ncbigene:9473 semapv:UnspecifiedMatching OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:PSMD6 semapv:UnspecifiedMatching OMIM:617857 PSMD6 skos:exactMatch ncbigene:9861 semapv:UnspecifiedMatching -OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:PSMF1 semapv:UnspecifiedMatching OMIM:617858 PSMF1 skos:exactMatch ncbigene:9491 semapv:UnspecifiedMatching -OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:DLGAP5 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:PSMF1 semapv:UnspecifiedMatching OMIM:617859 DLGAP5 skos:exactMatch ncbigene:9787 semapv:UnspecifiedMatching -OMIM:617860 SFTA3 skos:exactMatch ncbigene:253970 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:DLGAP5 semapv:UnspecifiedMatching OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:SFTA3 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch ncbigene:253970 semapv:UnspecifiedMatching OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:MYPOP semapv:UnspecifiedMatching OMIM:617861 MYPOP skos:exactMatch ncbigene:339344 semapv:UnspecifiedMatching OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch UMLS:C4693405 semapv:UnspecifiedMatching @@ -39506,52 +39510,52 @@ OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:TP53I11 semapv:UnspecifiedMatchi OMIM:617867 TP53I11 skos:exactMatch ncbigene:9537 semapv:UnspecifiedMatching OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:NAF1 semapv:UnspecifiedMatching OMIM:617868 NAF1 skos:exactMatch ncbigene:92345 semapv:UnspecifiedMatching -OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:NKX1-1 semapv:UnspecifiedMatching OMIM:617869 NKX1-1 skos:exactMatch ncbigene:54729 semapv:UnspecifiedMatching -OMIM:617870 CEP350 skos:exactMatch ncbigene:9857 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:NKX1-1 semapv:UnspecifiedMatching OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:CEP350 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch ncbigene:9857 semapv:UnspecifiedMatching OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:RNU7-1 semapv:UnspecifiedMatching OMIM:617876 RNU7-1 skos:exactMatch ncbigene:100147744 semapv:UnspecifiedMatching OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:TUBA3D semapv:UnspecifiedMatching OMIM:617878 TUBA3D skos:exactMatch ncbigene:113457 semapv:UnspecifiedMatching OMIM:617880 POC5 skos:exactMatch hgnc.symbol:POC5 semapv:UnspecifiedMatching OMIM:617880 POC5 skos:exactMatch ncbigene:134359 semapv:UnspecifiedMatching -OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:C4orf54 semapv:UnspecifiedMatching OMIM:617881 C4ORF54 skos:exactMatch ncbigene:285556 semapv:UnspecifiedMatching -OMIM:617884 HDGFL2 skos:exactMatch ncbigene:84717 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:C4orf54 semapv:UnspecifiedMatching OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:HDGFL2 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch ncbigene:84717 semapv:UnspecifiedMatching OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:ZNF512B semapv:UnspecifiedMatching OMIM:617886 ZNF512B skos:exactMatch ncbigene:57473 semapv:UnspecifiedMatching OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:AGMAT semapv:UnspecifiedMatching OMIM:617887 AGMAT skos:exactMatch ncbigene:79814 semapv:UnspecifiedMatching OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:ZNF580 semapv:UnspecifiedMatching OMIM:617888 ZNF580 skos:exactMatch ncbigene:51157 semapv:UnspecifiedMatching -OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:PYROXD2 semapv:UnspecifiedMatching OMIM:617889 PYROXD2 skos:exactMatch ncbigene:84795 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:PYROXD2 semapv:UnspecifiedMatching OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:ZNF664 semapv:UnspecifiedMatching OMIM:617890 ZNF664 skos:exactMatch ncbigene:144348 semapv:UnspecifiedMatching -OMIM:617891 ZNF655 skos:exactMatch ncbigene:79027 semapv:UnspecifiedMatching OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:ZNF655 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch ncbigene:79027 semapv:UnspecifiedMatching OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch UMLS:C4693523 semapv:UnspecifiedMatching OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:RPL36 semapv:UnspecifiedMatching OMIM:617893 RPL36 skos:exactMatch ncbigene:25873 semapv:UnspecifiedMatching OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:TMEM50B semapv:UnspecifiedMatching OMIM:617894 TMEM50B skos:exactMatch ncbigene:757 semapv:UnspecifiedMatching -OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:ZIC5 semapv:UnspecifiedMatching OMIM:617896 ZIC5 skos:exactMatch ncbigene:85416 semapv:UnspecifiedMatching -OMIM:617897 CSKMT skos:exactMatch ncbigene:751071 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:ZIC5 semapv:UnspecifiedMatching OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:CSKMT semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch ncbigene:751071 semapv:UnspecifiedMatching OMIM:617901 DEXI skos:exactMatch hgnc.symbol:DEXI semapv:UnspecifiedMatching OMIM:617901 DEXI skos:exactMatch ncbigene:28955 semapv:UnspecifiedMatching OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:LGALSL semapv:UnspecifiedMatching OMIM:617902 LGALSL skos:exactMatch ncbigene:29094 semapv:UnspecifiedMatching OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching -OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:HILPDA semapv:UnspecifiedMatching OMIM:617905 HILPDA skos:exactMatch ncbigene:29923 semapv:UnspecifiedMatching -OMIM:617906 CFAP20 skos:exactMatch ncbigene:29105 semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:HILPDA semapv:UnspecifiedMatching OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:CFAP20 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch ncbigene:29105 semapv:UnspecifiedMatching OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:ZNF473 semapv:UnspecifiedMatching OMIM:617908 ZNF473 skos:exactMatch ncbigene:25888 semapv:UnspecifiedMatching OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:LSM10 semapv:UnspecifiedMatching @@ -39572,16 +39576,16 @@ OMIM:617922 GYPA skos:exactMatch ncbigene:2993 semapv:UnspecifiedMatching OMIM:617923 GYPB skos:exactMatch hgnc.symbol:GYPB semapv:UnspecifiedMatching OMIM:617923 GYPB skos:exactMatch ncbigene:2994 semapv:UnspecifiedMatching OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching -OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching +OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:RHPN2 semapv:UnspecifiedMatching OMIM:617932 RHPN2 skos:exactMatch ncbigene:85415 semapv:UnspecifiedMatching OMIM:617933 developmental and epileptic encephalopathy 61 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:AEBP2 semapv:UnspecifiedMatching OMIM:617934 AEBP2 skos:exactMatch ncbigene:121536 semapv:UnspecifiedMatching OMIM:617935 epilepsy, familial focal, with variable foci 4 skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1867467 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1867467 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C0268379 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 semapv:UnspecifiedMatching OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:RBM11 semapv:UnspecifiedMatching @@ -39592,39 +39596,39 @@ OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:ZFP69 semapv:UnspecifiedMatching OMIM:617939 ZFP69 skos:exactMatch ncbigene:339559 semapv:UnspecifiedMatching OMIM:617940 PLEKHG3 skos:exactMatch ncbigene:26030 semapv:UnspecifiedMatching OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:PLEKHG3 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch ncbigene:81926 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:ABHD17A semapv:UnspecifiedMatching OMIM:617942 ABHD17A skos:exactMatch UMLS:C1825237 semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:ABHD17A semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch ncbigene:81926 semapv:UnspecifiedMatching OMIM:617943 ABHD17B skos:exactMatch UMLS:C1428366 semapv:UnspecifiedMatching OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:ABHD17B semapv:UnspecifiedMatching OMIM:617943 ABHD17B skos:exactMatch ncbigene:51104 semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch UMLS:C3541169 semapv:UnspecifiedMatching OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:ABHD17C semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch UMLS:C3541169 semapv:UnspecifiedMatching OMIM:617944 ABHD17C skos:exactMatch ncbigene:58489 semapv:UnspecifiedMatching -OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:BTBD8 semapv:UnspecifiedMatching OMIM:617945 BTBD8 skos:exactMatch ncbigene:284697 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch ncbigene:57222 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:ERGIC1 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:BTBD8 semapv:UnspecifiedMatching OMIM:617946 ERGIC1 skos:exactMatch UMLS:C1825061 semapv:UnspecifiedMatching OMIM:617946 ERGIC1 skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:ERGIC1 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch ncbigene:57222 semapv:UnspecifiedMatching OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:WDR74 semapv:UnspecifiedMatching OMIM:617947 WDR74 skos:exactMatch ncbigene:54663 semapv:UnspecifiedMatching -OMIM:617948 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching OMIM:617948 elliptocytosis 3 skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching +OMIM:617948 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:CFAP69 semapv:UnspecifiedMatching OMIM:617949 CFAP69 skos:exactMatch ncbigene:79846 semapv:UnspecifiedMatching -OMIM:617957 LRRIQ3 skos:exactMatch ncbigene:127255 semapv:UnspecifiedMatching OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:LRRIQ3 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch ncbigene:127255 semapv:UnspecifiedMatching OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:ICE1 semapv:UnspecifiedMatching OMIM:617958 ICE1 skos:exactMatch ncbigene:23379 semapv:UnspecifiedMatching OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:ZNF827 semapv:UnspecifiedMatching OMIM:617962 ZNF827 skos:exactMatch ncbigene:152485 semapv:UnspecifiedMatching -OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:TDRD9 semapv:UnspecifiedMatching OMIM:617963 TDRD9 skos:exactMatch ncbigene:122402 semapv:UnspecifiedMatching -OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:DNAI3 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:TDRD9 semapv:UnspecifiedMatching OMIM:617968 WDR63 skos:exactMatch ncbigene:126820 semapv:UnspecifiedMatching -OMIM:617969 CCDC63 skos:exactMatch ncbigene:160762 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:DNAI3 semapv:UnspecifiedMatching OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:CCDC63 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch ncbigene:160762 semapv:UnspecifiedMatching OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:ZDHHC20 semapv:UnspecifiedMatching OMIM:617972 ZDHHC20 skos:exactMatch ncbigene:253832 semapv:UnspecifiedMatching OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:FAM210A semapv:UnspecifiedMatching @@ -39641,10 +39645,10 @@ OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:NAA30 semapv:UnspecifiedMatching OMIM:617989 NAA30 skos:exactMatch ncbigene:122830 semapv:UnspecifiedMatching OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:NAA38 semapv:UnspecifiedMatching OMIM:617990 NAA38 skos:exactMatch ncbigene:84316 semapv:UnspecifiedMatching -OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch UMLS:C4693863 semapv:UnspecifiedMatching -OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching +OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching OMIM:617996 oocyte maturation defect 5 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:RCCD1 semapv:UnspecifiedMatching OMIM:617997 RCCD1 skos:exactMatch ncbigene:91433 semapv:UnspecifiedMatching @@ -39652,8 +39656,8 @@ OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:GAREM1 semapv:UnspecifiedMatching OMIM:617998 GAREM1 skos:exactMatch ncbigene:64762 semapv:UnspecifiedMatching OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:GAREM2 semapv:UnspecifiedMatching OMIM:617999 GAREM2 skos:exactMatch ncbigene:150946 semapv:UnspecifiedMatching -OMIM:618001 RELCH skos:exactMatch ncbigene:57614 semapv:UnspecifiedMatching OMIM:618001 RELCH skos:exactMatch hgnc.symbol:RELCH semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch ncbigene:57614 semapv:UnspecifiedMatching OMIM:618002 MAST4 skos:exactMatch ncbigene:375449 semapv:UnspecifiedMatching OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:MAST4 semapv:UnspecifiedMatching OMIM:618004 developmental and epileptic encephalopathy 64 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching @@ -39663,10 +39667,10 @@ OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch Orphan OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch UMLS:C4747891 semapv:UnspecifiedMatching -OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:RNPC3 semapv:UnspecifiedMatching OMIM:618016 RNPC3 skos:exactMatch ncbigene:55599 semapv:UnspecifiedMatching -OMIM:618017 ANKRD16 skos:exactMatch ncbigene:54522 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:RNPC3 semapv:UnspecifiedMatching OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:ANKRD16 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch ncbigene:54522 semapv:UnspecifiedMatching OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:KLHL22 semapv:UnspecifiedMatching OMIM:618020 KLHL22 skos:exactMatch ncbigene:84861 semapv:UnspecifiedMatching OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:NOTCH2NLA semapv:UnspecifiedMatching @@ -39675,38 +39679,38 @@ OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:NOTCH2NLB semapv:UnspecifiedMa OMIM:618024 NOTCH2NLB skos:exactMatch ncbigene:100996763 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch ncbigene:100996717 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:NOTCH2NLC semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C4747952 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C4747952 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:NOTCH2NLR semapv:UnspecifiedMatching OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:SHLD1 semapv:UnspecifiedMatching OMIM:618028 SHLD1 skos:exactMatch ncbigene:149840 semapv:UnspecifiedMatching OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:SHLD2 semapv:UnspecifiedMatching OMIM:618029 SHLD2 skos:exactMatch ncbigene:54537 semapv:UnspecifiedMatching -OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:SHLD3 semapv:UnspecifiedMatching OMIM:618030 SHLD3 skos:exactMatch ncbigene:112441434 semapv:UnspecifiedMatching -OMIM:618032 ZNF768 skos:exactMatch ncbigene:79724 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:SHLD3 semapv:UnspecifiedMatching OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:ZNF768 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch ncbigene:79724 semapv:UnspecifiedMatching OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:ZNF689 semapv:UnspecifiedMatching OMIM:618033 ZNF689 skos:exactMatch ncbigene:115509 semapv:UnspecifiedMatching OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:SLC43A3 semapv:UnspecifiedMatching OMIM:618034 SLC43A3 skos:exactMatch ncbigene:29015 semapv:UnspecifiedMatching -OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:TBC1D9 semapv:UnspecifiedMatching OMIM:618035 TBC1D9 skos:exactMatch ncbigene:23158 semapv:UnspecifiedMatching -OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:ZNF536 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:TBC1D9 semapv:UnspecifiedMatching OMIM:618037 ZNF536 skos:exactMatch ncbigene:9745 semapv:UnspecifiedMatching -OMIM:618038 SHOC1 skos:exactMatch ncbigene:158401 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:ZNF536 semapv:UnspecifiedMatching OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:SHOC1 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch ncbigene:158401 semapv:UnspecifiedMatching OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:TBC1D9B semapv:UnspecifiedMatching OMIM:618039 TBC1D9B skos:exactMatch ncbigene:23061 semapv:UnspecifiedMatching OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:DGCR5 semapv:UnspecifiedMatching OMIM:618040 DGCR5 skos:exactMatch ncbigene:26220 semapv:UnspecifiedMatching -OMIM:618041 PURG skos:exactMatch hgnc.symbol:PURG semapv:UnspecifiedMatching OMIM:618041 PURG skos:exactMatch ncbigene:29942 semapv:UnspecifiedMatching -OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:POU6F1 semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch hgnc.symbol:PURG semapv:UnspecifiedMatching OMIM:618043 POU6F1 skos:exactMatch ncbigene:5463 semapv:UnspecifiedMatching -OMIM:618044 C2CD5 skos:exactMatch ncbigene:9847 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:POU6F1 semapv:UnspecifiedMatching OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:C2CD5 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch ncbigene:9847 semapv:UnspecifiedMatching OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:DDIAS semapv:UnspecifiedMatching OMIM:618045 DDIAS skos:exactMatch ncbigene:220042 semapv:UnspecifiedMatching OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:OR1A1 semapv:UnspecifiedMatching @@ -39737,16 +39741,16 @@ OMIM:618066 HOXBAS1 skos:exactMatch ncbigene:100874362 semapv:UnspecifiedMatchin OMIM:618067 developmental and epileptic encephalopathy 66 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching OMIM:618068 SPZ1 skos:exactMatch ncbigene:84654 semapv:UnspecifiedMatching OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:SPZ1 semapv:UnspecifiedMatching -OMIM:618069 CNOT6L skos:exactMatch ncbigene:246175 semapv:UnspecifiedMatching OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:CNOT6L semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch ncbigene:246175 semapv:UnspecifiedMatching OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:ATP6V1C2 semapv:UnspecifiedMatching OMIM:618070 ATP6V1C2 skos:exactMatch ncbigene:245973 semapv:UnspecifiedMatching OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:ATP6V1G3 semapv:UnspecifiedMatching OMIM:618071 ATP6V1G3 skos:exactMatch ncbigene:127124 semapv:UnspecifiedMatching -OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:ATP6V0D2 semapv:UnspecifiedMatching OMIM:618072 ATP6V0D2 skos:exactMatch ncbigene:245972 semapv:UnspecifiedMatching -OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:SAMD12 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:ATP6V0D2 semapv:UnspecifiedMatching OMIM:618073 SAMD12 skos:exactMatch ncbigene:401474 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:SAMD12 semapv:UnspecifiedMatching OMIM:618074 epilepsy, familial adult myoclonic, 6 skos:exactMatch UMLS:C4748079 semapv:UnspecifiedMatching OMIM:618075 epilepsy, familial adult myoclonic, 7 skos:exactMatch UMLS:C4748080 semapv:UnspecifiedMatching OMIM:618077 inflammatory bowel disease 29 skos:exactMatch UMLS:C4748083 semapv:UnspecifiedMatching @@ -39754,10 +39758,10 @@ OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:WDFY1 semapv:UnspecifiedMatching OMIM:618080 WDFY1 skos:exactMatch ncbigene:57590 semapv:UnspecifiedMatching OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:ILDR2 semapv:UnspecifiedMatching OMIM:618081 ILDR2 skos:exactMatch ncbigene:387597 semapv:UnspecifiedMatching -OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:WDR33 semapv:UnspecifiedMatching OMIM:618082 WDR33 skos:exactMatch ncbigene:55339 semapv:UnspecifiedMatching -OMIM:618083 WBP11 skos:exactMatch ncbigene:51729 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:WDR33 semapv:UnspecifiedMatching OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:WBP11 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch ncbigene:51729 semapv:UnspecifiedMatching OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:PMFBP1 semapv:UnspecifiedMatching OMIM:618085 PMFBP1 skos:exactMatch ncbigene:83449 semapv:UnspecifiedMatching OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch UMLS:C4748127 semapv:UnspecifiedMatching @@ -39774,21 +39778,21 @@ OMIM:618104 MMEL1 skos:exactMatch ncbigene:79258 semapv:UnspecifiedMatching OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:SIGLEC15 semapv:UnspecifiedMatching OMIM:618105 SIGLEC15 skos:exactMatch ncbigene:284266 semapv:UnspecifiedMatching OMIM:618108 immunodeficiency 57 with autoinflammation skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching -OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch UMLS:C4748219 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:ZFP64 semapv:UnspecifiedMatching +OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:618111 ZFP64 skos:exactMatch ncbigene:55734 semapv:UnspecifiedMatching OMIM:618111 ZFP64 skos:exactMatch UMLS:C1423846 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:ZFP64 semapv:UnspecifiedMatching OMIM:618114 liddle syndrome 2 skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching OMIM:618114 liddle syndrome 2 skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch UMLS:C1825051 semapv:UnspecifiedMatching OMIM:618118 EML3 skos:exactMatch hgnc.symbol:EML3 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch UMLS:C1825051 semapv:UnspecifiedMatching OMIM:618118 EML3 skos:exactMatch ncbigene:256364 semapv:UnspecifiedMatching -OMIM:618119 EML5 skos:exactMatch hgnc.symbol:EML5 semapv:UnspecifiedMatching OMIM:618119 EML5 skos:exactMatch ncbigene:161436 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch hgnc.symbol:EML5 semapv:UnspecifiedMatching OMIM:618121 ATP5PD skos:exactMatch ncbigene:10476 semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:ATP5PD semapv:UnspecifiedMatching OMIM:618121 ATP5PD skos:exactMatch UMLS:C1412666 semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:ATP5PD semapv:UnspecifiedMatching OMIM:618122 MTREX skos:exactMatch hgnc.symbol:MTREX semapv:UnspecifiedMatching OMIM:618122 MTREX skos:exactMatch ncbigene:23517 semapv:UnspecifiedMatching OMIM:618125 CCDC155 skos:exactMatch hgnc.symbol:KASH5 semapv:UnspecifiedMatching @@ -39813,12 +39817,12 @@ OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:MIS18BP1 semapv:UnspecifiedMatc OMIM:618139 MIS18BP1 skos:exactMatch ncbigene:55320 semapv:UnspecifiedMatching OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch ncbigene:144406 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch UMLS:C1823830 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch UMLS:C4748395 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:CFAP251 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch ncbigene:144406 semapv:UnspecifiedMatching -OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching +OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching OMIM:618149 orofacial cleft 8 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching OMIM:618149 orofacial cleft 8 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:TSBP1 semapv:UnspecifiedMatching @@ -39826,53 +39830,53 @@ OMIM:618151 TSBP1 skos:exactMatch ncbigene:10665 semapv:UnspecifiedMatching OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch UMLS:C4722273 semapv:UnspecifiedMatching OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch UMLS:C4748428 semapv:UnspecifiedMatching -OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:PPP1R21 semapv:UnspecifiedMatching OMIM:618159 PPP1R21 skos:exactMatch ncbigene:129285 semapv:UnspecifiedMatching -OMIM:618161 joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:PPP1R21 semapv:UnspecifiedMatching OMIM:618161 joubert syndrome 35 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:618161 joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:TMEM94 semapv:UnspecifiedMatching OMIM:618163 TMEM94 skos:exactMatch ncbigene:9772 semapv:UnspecifiedMatching OMIM:618164 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C4748484 semapv:UnspecifiedMatching -OMIM:618166 CNTD1 skos:exactMatch ncbigene:124817 semapv:UnspecifiedMatching OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:CNTD1 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch ncbigene:124817 semapv:UnspecifiedMatching OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:PANTR1 semapv:UnspecifiedMatching OMIM:618169 PANTR1 skos:exactMatch ncbigene:100506421 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch UMLS:C1423791 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:KIF16B semapv:UnspecifiedMatching OMIM:618171 KIF16B skos:exactMatch ncbigene:55614 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:KIF16B semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch UMLS:C1423791 semapv:UnspecifiedMatching OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:LUARIS semapv:UnspecifiedMatching OMIM:618172 LUARIS skos:exactMatch ncbigene:100506895 semapv:UnspecifiedMatching -OMIM:618173 retinitis pigmentosa 83 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618173 retinitis pigmentosa 83 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching +OMIM:618173 retinitis pigmentosa 83 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch UMLS:C4748545 semapv:UnspecifiedMatching OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch UMLS:C4748552 semapv:UnspecifiedMatching OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:ZBTB11 semapv:UnspecifiedMatching OMIM:618181 ZBTB11 skos:exactMatch ncbigene:27107 semapv:UnspecifiedMatching -OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch UMLS:C4748608 semapv:UnspecifiedMatching -OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:LUCAT1 semapv:UnspecifiedMatching +OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching OMIM:618190 LUCAT1 skos:exactMatch ncbigene:100505994 semapv:UnspecifiedMatching -OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:CEACAM21 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:LUCAT1 semapv:UnspecifiedMatching OMIM:618191 CEACAM21 skos:exactMatch ncbigene:90273 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:CEACAM21 semapv:UnspecifiedMatching OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:PCAT19 semapv:UnspecifiedMatching OMIM:618192 PCAT19 skos:exactMatch ncbigene:100505495 semapv:UnspecifiedMatching OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching -OMIM:618194 SSC5D skos:exactMatch ncbigene:284297 semapv:UnspecifiedMatching OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:SSC5D semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch ncbigene:284297 semapv:UnspecifiedMatching OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching OMIM:618199 A1CF skos:exactMatch hgnc.symbol:A1CF semapv:UnspecifiedMatching OMIM:618199 A1CF skos:exactMatch ncbigene:29974 semapv:UnspecifiedMatching OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:MDN1 semapv:UnspecifiedMatching OMIM:618200 MDN1 skos:exactMatch ncbigene:23195 semapv:UnspecifiedMatching -OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching OMIM:618202 DNAJC30 skos:exactMatch ncbigene:84277 semapv:UnspecifiedMatching OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:DNAJC30 semapv:UnspecifiedMatching OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:TMTC4 semapv:UnspecifiedMatching @@ -39903,10 +39907,10 @@ OMIM:618217 ELDR skos:exactMatch hgnc.symbol:ELDR semapv:UnspecifiedMatching OMIM:618217 ELDR skos:exactMatch ncbigene:102725541 semapv:UnspecifiedMatching OMIM:618220 retinitis pigmentosa 84 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching OMIM:618220 retinitis pigmentosa 84 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:LRRC56 semapv:UnspecifiedMatching OMIM:618227 LRRC56 skos:exactMatch ncbigene:115399 semapv:UnspecifiedMatching -OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:LRRC56 semapv:UnspecifiedMatching OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch UMLS:C4722258 semapv:UnspecifiedMatching +OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching @@ -39933,8 +39937,8 @@ OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:ZNF341 semapv:UnspecifiedMatching OMIM:618269 ZNF341 skos:exactMatch ncbigene:84905 semapv:UnspecifiedMatching OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:SEC61A2 semapv:UnspecifiedMatching OMIM:618271 SEC61A2 skos:exactMatch ncbigene:55176 semapv:UnspecifiedMatching -OMIM:618274 PPWD1 skos:exactMatch ncbigene:23398 semapv:UnspecifiedMatching OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:PPWD1 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch ncbigene:23398 semapv:UnspecifiedMatching OMIM:618275 hypotrichosis 14 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:618275 hypotrichosis 14 skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:NHLRC2 semapv:UnspecifiedMatching @@ -39946,8 +39950,8 @@ OMIM:618288 HMCES skos:exactMatch hgnc.symbol:HMCES semapv:UnspecifiedMatching OMIM:618288 HMCES skos:exactMatch ncbigene:56941 semapv:UnspecifiedMatching OMIM:618289 ENTR1 skos:exactMatch ncbigene:10807 semapv:UnspecifiedMatching OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:ENTR1 semapv:UnspecifiedMatching -OMIM:618290 WDR90 skos:exactMatch ncbigene:197335 semapv:UnspecifiedMatching OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:WDR90 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch ncbigene:197335 semapv:UnspecifiedMatching OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch UMLS:C4749003 semapv:UnspecifiedMatching OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching @@ -39955,8 +39959,8 @@ OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:IFITM10 semapv:UnspecifiedMatchi OMIM:618293 IFITM10 skos:exactMatch ncbigene:402778 semapv:UnspecifiedMatching OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:TMEM91 semapv:UnspecifiedMatching OMIM:618294 TMEM91 skos:exactMatch ncbigene:641649 semapv:UnspecifiedMatching -OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:TMEM233 semapv:UnspecifiedMatching OMIM:618296 TMEM233 skos:exactMatch ncbigene:387890 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:TMEM233 semapv:UnspecifiedMatching OMIM:618297 PRRT1 skos:exactMatch ncbigene:80863 semapv:UnspecifiedMatching OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:PRRT1 semapv:UnspecifiedMatching OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching @@ -39985,12 +39989,12 @@ OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch UMLS:C5193021 semapv:Unsp OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch UMLS:C5193022 semapv:UnspecifiedMatching OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:RPL35 semapv:UnspecifiedMatching OMIM:618315 RPL35 skos:exactMatch ncbigene:11224 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:RPL35 semapv:UnspecifiedMatching OMIM:618318 CFAP119 skos:exactMatch ncbigene:90835 semapv:UnspecifiedMatching OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:CFAP119 semapv:UnspecifiedMatching -OMIM:618319 PRDM10 skos:exactMatch ncbigene:56980 semapv:UnspecifiedMatching OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:PRDM10 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch ncbigene:56980 semapv:UnspecifiedMatching OMIM:618320 PLA2G2E skos:exactMatch UMLS:C1421980 semapv:UnspecifiedMatching OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:PLA2G2E semapv:UnspecifiedMatching OMIM:618320 PLA2G2E skos:exactMatch ncbigene:30814 semapv:UnspecifiedMatching @@ -39998,20 +40002,20 @@ OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or le OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching OMIM:618322 USP38 skos:exactMatch hgnc.symbol:USP38 semapv:UnspecifiedMatching OMIM:618322 USP38 skos:exactMatch ncbigene:84640 semapv:UnspecifiedMatching -OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:ZCCHC3 semapv:UnspecifiedMatching OMIM:618326 ZCCHC3 skos:exactMatch ncbigene:85364 semapv:UnspecifiedMatching -OMIM:618327 CRACD skos:exactMatch ncbigene:57482 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:ZCCHC3 semapv:UnspecifiedMatching OMIM:618327 CRACD skos:exactMatch hgnc.symbol:CRACD semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch ncbigene:57482 semapv:UnspecifiedMatching OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching OMIM:618332 menke-hennekam syndrome 1 skos:exactMatch UMLS:C5193034 semapv:UnspecifiedMatching OMIM:618333 menke-hennekam syndrome 2 skos:exactMatch UMLS:C5193035 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch UMLS:C1824454 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:CYBC1 semapv:UnspecifiedMatching OMIM:618334 CYBC1 skos:exactMatch ncbigene:79415 semapv:UnspecifiedMatching -OMIM:618335 LINC00958 skos:exactMatch ncbigene:100506305 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch UMLS:C1824454 semapv:UnspecifiedMatching OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:LINC00958 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch ncbigene:100506305 semapv:UnspecifiedMatching OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:FRMD8 semapv:UnspecifiedMatching OMIM:618337 FRMD8 skos:exactMatch ncbigene:83786 semapv:UnspecifiedMatching OMIM:618338 METTL7A skos:exactMatch hgnc.symbol:TMT1A semapv:UnspecifiedMatching @@ -40020,25 +40024,25 @@ OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impair OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:SMR3A semapv:UnspecifiedMatching OMIM:618340 SMR3A skos:exactMatch ncbigene:26952 semapv:UnspecifiedMatching OMIM:618341 spermatogenic failure 35 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching -OMIM:618344 PRR15 skos:exactMatch ncbigene:222171 semapv:UnspecifiedMatching OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:PRR15 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch ncbigene:222171 semapv:UnspecifiedMatching OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:TRAPPC14 semapv:UnspecifiedMatching OMIM:618350 MAP11 skos:exactMatch ncbigene:55262 semapv:UnspecifiedMatching OMIM:618355 ALG10 skos:exactMatch UMLS:C4760639 semapv:UnspecifiedMatching OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:ALG10 semapv:UnspecifiedMatching OMIM:618355 ALG10 skos:exactMatch ncbigene:84920 semapv:UnspecifiedMatching OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:ZNF197 semapv:UnspecifiedMatching OMIM:618359 ZNF197 skos:exactMatch ncbigene:10168 semapv:UnspecifiedMatching -OMIM:618361 DUSP23 skos:exactMatch ncbigene:54935 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:ZNF197 semapv:UnspecifiedMatching OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:DUSP23 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch ncbigene:54935 semapv:UnspecifiedMatching OMIM:618364 myoclonus, familial, 2 skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:ZSCAN10 semapv:UnspecifiedMatching OMIM:618365 ZSCAN10 skos:exactMatch ncbigene:84891 semapv:UnspecifiedMatching OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:VPS8 semapv:UnspecifiedMatching OMIM:618366 VPS8 skos:exactMatch ncbigene:23355 semapv:UnspecifiedMatching -OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:DUSP26 semapv:UnspecifiedMatching OMIM:618368 DUSP26 skos:exactMatch ncbigene:78986 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:DUSP26 semapv:UnspecifiedMatching OMIM:618370 NEXNAS1 skos:exactMatch ncbigene:374987 semapv:UnspecifiedMatching OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:NEXN-AS1 semapv:UnspecifiedMatching OMIM:618374 developmental and epileptic encephalopathy 72 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching @@ -40050,8 +40054,8 @@ OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch UMLS:C OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching OMIM:618380 FAM83D skos:exactMatch ncbigene:81610 semapv:UnspecifiedMatching OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:FAM83D semapv:UnspecifiedMatching -OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching OMIM:618385 CAP2 skos:exactMatch ncbigene:10486 semapv:UnspecifiedMatching @@ -40067,84 +40071,84 @@ OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch UMLS:C OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch UMLS:C5193075 semapv:UnspecifiedMatching OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch ncbigene:55830 semapv:UnspecifiedMatching OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:GLT8D1 semapv:UnspecifiedMatching OMIM:618399 GLT8D1 skos:exactMatch UMLS:C1539576 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch ncbigene:55830 semapv:UnspecifiedMatching -OMIM:618401 FAM170A skos:exactMatch ncbigene:340069 semapv:UnspecifiedMatching OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:FAM170A semapv:UnspecifiedMatching -OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch ncbigene:340069 semapv:UnspecifiedMatching OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch UMLS:C5193077 semapv:UnspecifiedMatching +OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:FAM124B semapv:UnspecifiedMatching OMIM:618403 FAM124B skos:exactMatch ncbigene:79843 semapv:UnspecifiedMatching OMIM:618404 leukodystrophy, hypomyelinating, 18 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching -OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:ZNF717 semapv:UnspecifiedMatching OMIM:618405 ZNF717 skos:exactMatch ncbigene:100131827 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4054546 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4759928 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:ZNF717 semapv:UnspecifiedMatching OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching -OMIM:618407 MINDY1 skos:exactMatch ncbigene:55793 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4759928 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4054546 semapv:UnspecifiedMatching OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:MINDY1 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch ncbigene:55793 semapv:UnspecifiedMatching OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:MINDY2 semapv:UnspecifiedMatching OMIM:618408 MINDY2 skos:exactMatch ncbigene:54629 semapv:UnspecifiedMatching OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:FAM8A1 semapv:UnspecifiedMatching OMIM:618409 FAM8A1 skos:exactMatch ncbigene:51439 semapv:UnspecifiedMatching -OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:FTSJ3 semapv:UnspecifiedMatching OMIM:618411 FTSJ3 skos:exactMatch ncbigene:117246 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:FAM149B1 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch ncbigene:317662 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:FTSJ3 semapv:UnspecifiedMatching OMIM:618413 FAM149B1 skos:exactMatch UMLS:C2239438 semapv:UnspecifiedMatching OMIM:618413 FAM149B1 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:FAM149B1 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch ncbigene:317662 semapv:UnspecifiedMatching OMIM:618417 MEI4 skos:exactMatch UMLS:C3544029 semapv:UnspecifiedMatching OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:MEI4 semapv:UnspecifiedMatching OMIM:618417 MEI4 skos:exactMatch ncbigene:101928601 semapv:UnspecifiedMatching OMIM:618421 REC114 skos:exactMatch hgnc.symbol:REC114 semapv:UnspecifiedMatching OMIM:618421 REC114 skos:exactMatch ncbigene:283677 semapv:UnspecifiedMatching -OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch ncbigene:256006 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:ANKRD31 semapv:UnspecifiedMatching +OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching OMIM:618423 ANKRD31 skos:exactMatch UMLS:C1538289 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:ANKRD31 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch ncbigene:256006 semapv:UnspecifiedMatching OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:ARMC2 semapv:UnspecifiedMatching OMIM:618424 ARMC2 skos:exactMatch ncbigene:84071 semapv:UnspecifiedMatching OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:PACC1 semapv:UnspecifiedMatching OMIM:618427 PACC1 skos:exactMatch ncbigene:55248 semapv:UnspecifiedMatching -OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching +OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch UMLS:C5193096 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618439 USP45 skos:exactMatch hgnc.symbol:USP45 semapv:UnspecifiedMatching OMIM:618439 USP45 skos:exactMatch ncbigene:85015 semapv:UnspecifiedMatching OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:ADGRG3 semapv:UnspecifiedMatching OMIM:618441 ADGRG3 skos:exactMatch ncbigene:222487 semapv:UnspecifiedMatching -OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:KCTD8 semapv:UnspecifiedMatching OMIM:618442 KCTD8 skos:exactMatch ncbigene:386617 semapv:UnspecifiedMatching -OMIM:618444 PLGRKT skos:exactMatch ncbigene:55848 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:KCTD8 semapv:UnspecifiedMatching OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:PLGRKT semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch ncbigene:55848 semapv:UnspecifiedMatching OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:GHRLOS semapv:UnspecifiedMatching OMIM:618445 GHRLOS skos:exactMatch ncbigene:100126793 semapv:UnspecifiedMatching OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:GPC2 semapv:UnspecifiedMatching OMIM:618446 GPC2 skos:exactMatch ncbigene:221914 semapv:UnspecifiedMatching OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:GPR139 semapv:UnspecifiedMatching OMIM:618448 GPR139 skos:exactMatch ncbigene:124274 semapv:UnspecifiedMatching -OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:RTKN2 semapv:UnspecifiedMatching OMIM:618450 RTKN2 skos:exactMatch ncbigene:219790 semapv:UnspecifiedMatching -OMIM:618452 PLEKHB2 skos:exactMatch ncbigene:55041 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:RTKN2 semapv:UnspecifiedMatching OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:PLEKHB2 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch ncbigene:55041 semapv:UnspecifiedMatching OMIM:618454 developmental delay with or without dysmorphic facies and autism skos:exactMatch UMLS:C5193106 semapv:UnspecifiedMatching OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:HEPHL1 semapv:UnspecifiedMatching OMIM:618455 HEPHL1 skos:exactMatch ncbigene:341208 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch ncbigene:284184 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C4320593 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:NDUFAF8 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch ncbigene:284184 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch ncbigene:65980 semapv:UnspecifiedMatching OMIM:618465 BRD9 skos:exactMatch UMLS:C1428523 semapv:UnspecifiedMatching OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:BRD9 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch ncbigene:65980 semapv:UnspecifiedMatching OMIM:618466 BRIX1 skos:exactMatch UMLS:C1538972 semapv:UnspecifiedMatching OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:BRIX1 semapv:UnspecifiedMatching OMIM:618466 BRIX1 skos:exactMatch ncbigene:55299 semapv:UnspecifiedMatching @@ -40154,28 +40158,28 @@ OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch UMLS:C OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching -OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching +OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:RPF2 semapv:UnspecifiedMatching OMIM:618471 RPF2 skos:exactMatch ncbigene:84154 semapv:UnspecifiedMatching OMIM:618472 ASPG skos:exactMatch hgnc.symbol:ASPG semapv:UnspecifiedMatching OMIM:618472 ASPG skos:exactMatch ncbigene:374569 semapv:UnspecifiedMatching -OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:EIF1AD semapv:UnspecifiedMatching OMIM:618473 EIF1AD skos:exactMatch ncbigene:84285 semapv:UnspecifiedMatching -OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:WDR83OS semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:EIF1AD semapv:UnspecifiedMatching OMIM:618474 WDR83OS skos:exactMatch ncbigene:51398 semapv:UnspecifiedMatching -OMIM:618478 FYB2 skos:exactMatch ncbigene:199920 semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:WDR83OS semapv:UnspecifiedMatching OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:FYB2 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch ncbigene:199920 semapv:UnspecifiedMatching OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch UMLS:C5193118 semapv:UnspecifiedMatching OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch UMLS:C5193119 semapv:UnspecifiedMatching OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching -OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:LLGL2 semapv:UnspecifiedMatching OMIM:618483 LLGL2 skos:exactMatch ncbigene:3993 semapv:UnspecifiedMatching -OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:LLGL2 semapv:UnspecifiedMatching OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching +OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:ZBTB40-IT1 semapv:UnspecifiedMatching OMIM:618485 ZBTB40IT1 skos:exactMatch ncbigene:100874345 semapv:UnspecifiedMatching OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:PLBD1 semapv:UnspecifiedMatching @@ -40184,19 +40188,19 @@ OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:GPR151 semapv:UnspecifiedMatching OMIM:618487 GPR151 skos:exactMatch ncbigene:134391 semapv:UnspecifiedMatching OMIM:618488 PLD4 skos:exactMatch ncbigene:122618 semapv:UnspecifiedMatching OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:PLD4 semapv:UnspecifiedMatching -OMIM:618489 BRD7 skos:exactMatch ncbigene:29117 semapv:UnspecifiedMatching OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:BRD7 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch ncbigene:29117 semapv:UnspecifiedMatching OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:GPR107 semapv:UnspecifiedMatching OMIM:618490 GPR107 skos:exactMatch ncbigene:57720 semapv:UnspecifiedMatching OMIM:618491 GPR108 skos:exactMatch UMLS:C1425110 semapv:UnspecifiedMatching OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:GPR108 semapv:UnspecifiedMatching OMIM:618491 GPR108 skos:exactMatch ncbigene:56927 semapv:UnspecifiedMatching -OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching +OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:BICRAL semapv:UnspecifiedMatching OMIM:618502 BICRAL skos:exactMatch ncbigene:23506 semapv:UnspecifiedMatching -OMIM:618503 POGLUT3 skos:exactMatch ncbigene:143888 semapv:UnspecifiedMatching OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:POGLUT3 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch ncbigene:143888 semapv:UnspecifiedMatching OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:WAKMAR1 semapv:UnspecifiedMatching OMIM:618507 WAKMAR1 skos:exactMatch ncbigene:105372576 semapv:UnspecifiedMatching OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:WAKMAR2 semapv:UnspecifiedMatching @@ -40235,68 +40239,68 @@ OMIM:618530 STKLD1 skos:exactMatch ncbigene:169436 semapv:UnspecifiedMatching OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:CLASRP semapv:UnspecifiedMatching OMIM:618532 CLASRP skos:exactMatch ncbigene:11129 semapv:UnspecifiedMatching OMIM:618533 deafness, autosomal dominant 37 skos:exactMatch UMLS:C4760307 semapv:UnspecifiedMatching -OMIM:618534 immunodeficiency 64 skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching -OMIM:618534 immunodeficiency 64 skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching -OMIM:618536 CACTIN skos:exactMatch ncbigene:58509 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:CACTIN semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch ncbigene:58509 semapv:UnspecifiedMatching OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:AVPI1 semapv:UnspecifiedMatching OMIM:618537 AVPI1 skos:exactMatch ncbigene:60370 semapv:UnspecifiedMatching OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:CNRIP1 semapv:UnspecifiedMatching OMIM:618538 CNRIP1 skos:exactMatch ncbigene:25927 semapv:UnspecifiedMatching -OMIM:618539 CHERP skos:exactMatch hgnc.symbol:CHERP semapv:UnspecifiedMatching OMIM:618539 CHERP skos:exactMatch ncbigene:10523 semapv:UnspecifiedMatching -OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:CREG2 semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch hgnc.symbol:CHERP semapv:UnspecifiedMatching OMIM:618540 CREG2 skos:exactMatch ncbigene:200407 semapv:UnspecifiedMatching -OMIM:618542 RABL3 skos:exactMatch ncbigene:285282 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:CREG2 semapv:UnspecifiedMatching OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:RABL3 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch ncbigene:285282 semapv:UnspecifiedMatching OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:CFAP46 semapv:UnspecifiedMatching OMIM:618543 CFAP46 skos:exactMatch ncbigene:54777 semapv:UnspecifiedMatching OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:ZSCAN16 semapv:UnspecifiedMatching OMIM:618544 ZSCAN16 skos:exactMatch ncbigene:80345 semapv:UnspecifiedMatching OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:GRPEL2 semapv:UnspecifiedMatching OMIM:618545 GRPEL2 skos:exactMatch ncbigene:134266 semapv:UnspecifiedMatching -OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:618551 MAP10 skos:exactMatch ncbigene:54627 semapv:UnspecifiedMatching +OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:MAP10 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch ncbigene:54627 semapv:UnspecifiedMatching OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:SPACA9 semapv:UnspecifiedMatching OMIM:618552 SPACA9 skos:exactMatch ncbigene:11092 semapv:UnspecifiedMatching OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:BMNCR semapv:UnspecifiedMatching OMIM:618553 BMNCR skos:exactMatch ncbigene:107985249 semapv:UnspecifiedMatching OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:ZNF84 semapv:UnspecifiedMatching OMIM:618554 ZNF84 skos:exactMatch ncbigene:7637 semapv:UnspecifiedMatching -OMIM:618556 ENHO skos:exactMatch hgnc.symbol:ENHO semapv:UnspecifiedMatching OMIM:618556 ENHO skos:exactMatch ncbigene:375704 semapv:UnspecifiedMatching -OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch hgnc.symbol:ENHO semapv:UnspecifiedMatching OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching +OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:GPSM3 semapv:UnspecifiedMatching OMIM:618558 GPSM3 skos:exactMatch ncbigene:63940 semapv:UnspecifiedMatching OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:B4GALNT4 semapv:UnspecifiedMatching OMIM:618560 B4GALNT4 skos:exactMatch ncbigene:338707 semapv:UnspecifiedMatching -OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:CWH43 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:B4GALNT4 semapv:UnspecifiedMatching OMIM:618561 CWH43 skos:exactMatch ncbigene:80157 semapv:UnspecifiedMatching -OMIM:618562 TEX261 skos:exactMatch ncbigene:113419 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:CWH43 semapv:UnspecifiedMatching OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:TEX261 semapv:UnspecifiedMatching -OMIM:618563 SLC10A4 skos:exactMatch ncbigene:201780 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch ncbigene:113419 semapv:UnspecifiedMatching OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:SLC10A4 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch ncbigene:201780 semapv:UnspecifiedMatching OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:H1-7 semapv:UnspecifiedMatching OMIM:618565 H1-7 skos:exactMatch ncbigene:341567 semapv:UnspecifiedMatching -OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:ANTKMT semapv:UnspecifiedMatching OMIM:618566 ANTKMT skos:exactMatch ncbigene:65990 semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:ANTKMT semapv:UnspecifiedMatching OMIM:618567 mitochondrial DNA depletion syndrome 17 skos:exactMatch UMLS:C5231412 semapv:UnspecifiedMatching -OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:ATPSCKMT semapv:UnspecifiedMatching OMIM:618568 ATPSCKMT skos:exactMatch ncbigene:134145 semapv:UnspecifiedMatching -OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:ATPSCKMT semapv:UnspecifiedMatching OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching +OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:TRIM71 semapv:UnspecifiedMatching OMIM:618570 TRIM71 skos:exactMatch ncbigene:131405 semapv:UnspecifiedMatching OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:DUSP29 semapv:UnspecifiedMatching OMIM:618574 DUPD1 skos:exactMatch ncbigene:338599 semapv:UnspecifiedMatching -OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:EMSLR semapv:UnspecifiedMatching OMIM:618575 EMSLR skos:exactMatch ncbigene:101927746 semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:EMSLR semapv:UnspecifiedMatching OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:ZBTB10 semapv:UnspecifiedMatching OMIM:618576 ZBTB10 skos:exactMatch ncbigene:65986 semapv:UnspecifiedMatching OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch UMLS:C5231416 semapv:UnspecifiedMatching @@ -40305,29 +40309,29 @@ OMIM:618579 DMAC2L skos:exactMatch ncbigene:27109 semapv:UnspecifiedMatching OMIM:618580 developmental and epileptic encephalopathy 80 skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:ANKRD34B semapv:UnspecifiedMatching OMIM:618581 ANKRD34B skos:exactMatch ncbigene:340120 semapv:UnspecifiedMatching -OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:SLC10A5 semapv:UnspecifiedMatching OMIM:618582 SLC10A5 skos:exactMatch ncbigene:347051 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch ncbigene:51250 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:MTRES1 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:SLC10A5 semapv:UnspecifiedMatching OMIM:618583 MTRES1 skos:exactMatch UMLS:C1425209 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:MTRES1 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch ncbigene:51250 semapv:UnspecifiedMatching OMIM:618584 NME9 skos:exactMatch hgnc.symbol:NME9 semapv:UnspecifiedMatching OMIM:618584 NME9 skos:exactMatch ncbigene:347736 semapv:UnspecifiedMatching OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:CCDC51 semapv:UnspecifiedMatching OMIM:618585 CCDC51 skos:exactMatch ncbigene:79714 semapv:UnspecifiedMatching OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:WDR37 semapv:UnspecifiedMatching OMIM:618586 WDR37 skos:exactMatch ncbigene:22884 semapv:UnspecifiedMatching -OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching -OMIM:618588 PDILT skos:exactMatch ncbigene:204474 semapv:UnspecifiedMatching +OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching OMIM:618588 PDILT skos:exactMatch hgnc.symbol:PDILT semapv:UnspecifiedMatching -OMIM:618589 GKN2 skos:exactMatch ncbigene:200504 semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch ncbigene:204474 semapv:UnspecifiedMatching OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:GKN2 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch ncbigene:200504 semapv:UnspecifiedMatching OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching OMIM:618591 short sleep, familial natural, 2 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching -OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:RNF217 semapv:UnspecifiedMatching OMIM:618592 RNF217 skos:exactMatch ncbigene:154214 semapv:UnspecifiedMatching -OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:ZNF398 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:RNF217 semapv:UnspecifiedMatching OMIM:618593 ZNF398 skos:exactMatch ncbigene:57541 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:ZNF398 semapv:UnspecifiedMatching OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:CKAP4 semapv:UnspecifiedMatching OMIM:618595 CKAP4 skos:exactMatch ncbigene:10970 semapv:UnspecifiedMatching OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching @@ -40335,61 +40339,61 @@ OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:BEGAIN semapv:UnspecifiedMatching OMIM:618597 BEGAIN skos:exactMatch ncbigene:57596 semapv:UnspecifiedMatching OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:CDH24 semapv:UnspecifiedMatching OMIM:618599 CDH24 skos:exactMatch ncbigene:64403 semapv:UnspecifiedMatching -OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:CABS1 semapv:UnspecifiedMatching OMIM:618600 CABS1 skos:exactMatch ncbigene:85438 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:CABS1 semapv:UnspecifiedMatching OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:EXO5 semapv:UnspecifiedMatching OMIM:618601 EXO5 skos:exactMatch ncbigene:64789 semapv:UnspecifiedMatching -OMIM:618602 ADAM32 skos:exactMatch ncbigene:203102 semapv:UnspecifiedMatching OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:ADAM32 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch ncbigene:203102 semapv:UnspecifiedMatching OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:ANKRD9 semapv:UnspecifiedMatching OMIM:618605 ANKRD9 skos:exactMatch ncbigene:122416 semapv:UnspecifiedMatching -OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:YJEFN3 semapv:UnspecifiedMatching OMIM:618607 YJEFN3 skos:exactMatch ncbigene:374887 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:YJEFN3 semapv:UnspecifiedMatching OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:HEMK1 semapv:UnspecifiedMatching OMIM:618609 HEMK1 skos:exactMatch ncbigene:51409 semapv:UnspecifiedMatching -OMIM:618610 HMBOX1 skos:exactMatch ncbigene:79618 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:HEMK1 semapv:UnspecifiedMatching OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:HMBOX1 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch ncbigene:79618 semapv:UnspecifiedMatching OMIM:618611 HROB skos:exactMatch hgnc.symbol:HROB semapv:UnspecifiedMatching OMIM:618611 HROB skos:exactMatch ncbigene:78995 semapv:UnspecifiedMatching OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:CBY2 semapv:UnspecifiedMatching OMIM:618614 CBY2 skos:exactMatch ncbigene:220082 semapv:UnspecifiedMatching -OMIM:618615 HEIH skos:exactMatch hgnc.symbol:HEIH semapv:UnspecifiedMatching OMIM:618615 HEIH skos:exactMatch ncbigene:100859930 semapv:UnspecifiedMatching -OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:MAPK15 semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch hgnc.symbol:HEIH semapv:UnspecifiedMatching OMIM:618616 MAPK15 skos:exactMatch ncbigene:225689 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:MAPK15 semapv:UnspecifiedMatching OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:ZNHIT1 semapv:UnspecifiedMatching OMIM:618617 ZNHIT1 skos:exactMatch ncbigene:10467 semapv:UnspecifiedMatching -OMIM:618621 ZDHHC2 skos:exactMatch ncbigene:51201 semapv:UnspecifiedMatching OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:ZDHHC2 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch ncbigene:51201 semapv:UnspecifiedMatching OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:HIGD1A semapv:UnspecifiedMatching OMIM:618623 HIGD1A skos:exactMatch ncbigene:25994 semapv:UnspecifiedMatching -OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C5231433 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:PCIF1 semapv:UnspecifiedMatching OMIM:618626 PCIF1 skos:exactMatch ncbigene:63935 semapv:UnspecifiedMatching -OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:GMCL1 semapv:UnspecifiedMatching OMIM:618627 GMCL1 skos:exactMatch ncbigene:64395 semapv:UnspecifiedMatching -OMIM:618628 METTL5 skos:exactMatch ncbigene:29081 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:GMCL1 semapv:UnspecifiedMatching OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:METTL5 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch ncbigene:29081 semapv:UnspecifiedMatching OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:GMCL2 semapv:UnspecifiedMatching OMIM:618629 GMCL2 skos:exactMatch ncbigene:64396 semapv:UnspecifiedMatching OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:TRMT112 semapv:UnspecifiedMatching OMIM:618630 TRMT112 skos:exactMatch ncbigene:51504 semapv:UnspecifiedMatching OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:NRDE2 semapv:UnspecifiedMatching OMIM:618631 NRDE2 skos:exactMatch ncbigene:55051 semapv:UnspecifiedMatching -OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:SLC5A4 semapv:UnspecifiedMatching OMIM:618633 SLC5A4 skos:exactMatch ncbigene:6527 semapv:UnspecifiedMatching -OMIM:618634 DLEU7 skos:exactMatch ncbigene:220107 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:SLC5A4 semapv:UnspecifiedMatching OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:DLEU7 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch ncbigene:220107 semapv:UnspecifiedMatching OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:SLC5A10 semapv:UnspecifiedMatching OMIM:618636 SLC5A10 skos:exactMatch ncbigene:125206 semapv:UnspecifiedMatching OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:HECTD3 semapv:UnspecifiedMatching OMIM:618638 HECTD3 skos:exactMatch ncbigene:79654 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:NUTM2B-AS1 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch ncbigene:101060691 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:NUTM2B-AS1 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C3890651 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:ZC3H3 semapv:UnspecifiedMatching @@ -40398,19 +40402,19 @@ OMIM:618642 SH3RF1 skos:exactMatch UMLS:C1822713 semapv:UnspecifiedMatching OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:SH3RF1 semapv:UnspecifiedMatching OMIM:618642 SH3RF1 skos:exactMatch ncbigene:57630 semapv:UnspecifiedMatching OMIM:618644 osteogenesis imperfecta, iia 20 skos:exactMatch UMLS:C5231439 semapv:UnspecifiedMatching -OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:PHF12 semapv:UnspecifiedMatching OMIM:618645 PHF12 skos:exactMatch ncbigene:57649 semapv:UnspecifiedMatching -OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:C1QTNF2 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:PHF12 semapv:UnspecifiedMatching OMIM:618647 C1QTNF2 skos:exactMatch ncbigene:114898 semapv:UnspecifiedMatching -OMIM:618649 HECTD1 skos:exactMatch ncbigene:25831 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:C1QTNF2 semapv:UnspecifiedMatching OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:HECTD1 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch ncbigene:25831 semapv:UnspecifiedMatching OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:RNF169 semapv:UnspecifiedMatching OMIM:618650 RNF169 skos:exactMatch ncbigene:254225 semapv:UnspecifiedMatching OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching -OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:PERCC1 semapv:UnspecifiedMatching +OMIM:618654 congenital myopathy 8 skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching OMIM:618656 PERCC1 skos:exactMatch ncbigene:105371045 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:PERCC1 semapv:UnspecifiedMatching OMIM:618657 LARP4 skos:exactMatch ncbigene:113251 semapv:UnspecifiedMatching OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:LARP4 semapv:UnspecifiedMatching OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:UnspecifiedMatching @@ -40429,12 +40433,12 @@ OMIM:618668 GABRR3 skos:exactMatch ncbigene:200959 semapv:UnspecifiedMatching OMIM:618669 YTHDF3 skos:exactMatch UMLS:C1538136 semapv:UnspecifiedMatching OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:YTHDF3 semapv:UnspecifiedMatching OMIM:618669 YTHDF3 skos:exactMatch ncbigene:253943 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch ncbigene:131540 semapv:UnspecifiedMatching OMIM:618671 ZDHHC19 skos:exactMatch UMLS:C1427090 semapv:UnspecifiedMatching OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:ZDHHC19 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch ncbigene:131540 semapv:UnspecifiedMatching OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching -OMIM:618673 ZYG11B skos:exactMatch ncbigene:79699 semapv:UnspecifiedMatching OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:ZYG11B semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch ncbigene:79699 semapv:UnspecifiedMatching OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:ZYG11A semapv:UnspecifiedMatching OMIM:618675 ZYG11A skos:exactMatch ncbigene:440590 semapv:UnspecifiedMatching OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:ZBTB43 semapv:UnspecifiedMatching @@ -40444,17 +40448,17 @@ OMIM:618678 CES5A skos:exactMatch ncbigene:221223 semapv:UnspecifiedMatching OMIM:618679 GFRA4 skos:exactMatch ncbigene:64096 semapv:UnspecifiedMatching OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:GFRA4 semapv:UnspecifiedMatching OMIM:618680 pancreatic cancer, susceptibility to, 5 skos:exactMatch UMLS:C5231459 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch ncbigene:127003 semapv:UnspecifiedMatching OMIM:618682 CFAP276 skos:exactMatch UMLS:C1823808 semapv:UnspecifiedMatching OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:CFAP276 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch ncbigene:127003 semapv:UnspecifiedMatching OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:TMEM63A semapv:UnspecifiedMatching OMIM:618685 TMEM63A skos:exactMatch ncbigene:9725 semapv:UnspecifiedMatching OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:TEKT5 semapv:UnspecifiedMatching OMIM:618686 TEKT5 skos:exactMatch ncbigene:146279 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch UMLS:C1422545 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch ncbigene:84628 semapv:UnspecifiedMatching OMIM:618689 NTNG2 skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch UMLS:C1422545 semapv:UnspecifiedMatching OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:NTNG2 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch ncbigene:84628 semapv:UnspecifiedMatching OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:PSORS1C3 semapv:UnspecifiedMatching OMIM:618690 PSORS1C3 skos:exactMatch ncbigene:100130889 semapv:UnspecifiedMatching OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:TMEM266 semapv:UnspecifiedMatching @@ -40464,17 +40468,17 @@ OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:VGLL4 semapv:UnspecifiedMatching OMIM:618692 VGLL4 skos:exactMatch ncbigene:9686 semapv:UnspecifiedMatching OMIM:618693 CELA3A skos:exactMatch ncbigene:10136 semapv:UnspecifiedMatching OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:CELA3A semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch ncbigene:23436 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:CELA3B semapv:UnspecifiedMatching OMIM:618694 CELA3B skos:exactMatch UMLS:C1423849 semapv:UnspecifiedMatching OMIM:618694 CELA3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:CELA3B semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch ncbigene:23436 semapv:UnspecifiedMatching OMIM:618696 GFY skos:exactMatch hgnc.symbol:GFY semapv:UnspecifiedMatching OMIM:618696 GFY skos:exactMatch ncbigene:100507003 semapv:UnspecifiedMatching -OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch UMLS:C2239362 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch hgnc.symbol:DUXB semapv:UnspecifiedMatching +OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching OMIM:618698 DUXB skos:exactMatch ncbigene:100033411 semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch hgnc.symbol:DUXB semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch UMLS:C2239362 semapv:UnspecifiedMatching OMIM:618699 ciliary dyskinesia, primary, 43 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching OMIM:618700 CPHXL skos:exactMatch UMLS:C4085168 semapv:UnspecifiedMatching OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:CPHXL semapv:UnspecifiedMatching @@ -40482,39 +40486,39 @@ OMIM:618700 CPHXL skos:exactMatch ncbigene:105371346 semapv:UnspecifiedMatching OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:LEUTX semapv:UnspecifiedMatching OMIM:618701 LEUTX skos:exactMatch ncbigene:342900 semapv:UnspecifiedMatching OMIM:618702 short stature and microcephaly with genital anomalies skos:exactMatch UMLS:C5231467 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:ZNF281 semapv:UnspecifiedMatching OMIM:618703 ZNF281 skos:exactMatch ncbigene:23528 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:ZNF281 semapv:UnspecifiedMatching OMIM:618703 ZNF281 skos:exactMatch UMLS:C1421767 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch ncbigene:200373 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:CFAP221 semapv:UnspecifiedMatching OMIM:618704 CFAP221 skos:exactMatch UMLS:C3890126 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:CFAP221 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch ncbigene:200373 semapv:UnspecifiedMatching OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:MBTD1 semapv:UnspecifiedMatching OMIM:618705 MBTD1 skos:exactMatch ncbigene:54799 semapv:UnspecifiedMatching OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:HOXA-AS3 semapv:UnspecifiedMatching OMIM:618706 HOXAAS3 skos:exactMatch ncbigene:100133311 semapv:UnspecifiedMatching OMIM:618707 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch UMLS:C5231469 semapv:UnspecifiedMatching -OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:NBR2 semapv:UnspecifiedMatching OMIM:618708 NBR2 skos:exactMatch ncbigene:10230 semapv:UnspecifiedMatching -OMIM:618710 PNO1 skos:exactMatch ncbigene:56902 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:NBR2 semapv:UnspecifiedMatching OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:PNO1 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch ncbigene:56902 semapv:UnspecifiedMatching OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:METTL15 semapv:UnspecifiedMatching OMIM:618711 METTL15 skos:exactMatch ncbigene:196074 semapv:UnspecifiedMatching OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:ANKRD45 semapv:UnspecifiedMatching OMIM:618712 ANKRD45 skos:exactMatch ncbigene:339416 semapv:UnspecifiedMatching OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:CYS1 semapv:UnspecifiedMatching OMIM:618713 CYS1 skos:exactMatch ncbigene:192668 semapv:UnspecifiedMatching -OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:RAP1GAP2 semapv:UnspecifiedMatching OMIM:618714 RAP1GAP2 skos:exactMatch ncbigene:23108 semapv:UnspecifiedMatching -OMIM:618715 ZDHHC6 skos:exactMatch ncbigene:64429 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:RAP1GAP2 semapv:UnspecifiedMatching OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:ZDHHC6 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch ncbigene:64429 semapv:UnspecifiedMatching OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:ATG16L2 semapv:UnspecifiedMatching OMIM:618716 ATG16L2 skos:exactMatch ncbigene:89849 semapv:UnspecifiedMatching OMIM:618717 EPGN skos:exactMatch hgnc.symbol:EPGN semapv:UnspecifiedMatching OMIM:618717 EPGN skos:exactMatch ncbigene:255324 semapv:UnspecifiedMatching OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching OMIM:618719 megabladder, congenital skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching -OMIM:618720 PDF skos:exactMatch ncbigene:64146 semapv:UnspecifiedMatching OMIM:618720 PDF skos:exactMatch hgnc.symbol:PDF semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch ncbigene:64146 semapv:UnspecifiedMatching OMIM:618721 developmental and epileptic encephalopathy 82 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:FAM210B semapv:UnspecifiedMatching OMIM:618722 FAM210B skos:exactMatch ncbigene:116151 semapv:UnspecifiedMatching @@ -40522,9 +40526,9 @@ OMIM:618723 premature ovarian failure 16 skos:exactMatch UMLS:C5231474 semapv:Un OMIM:618723 premature ovarian failure 16 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching OMIM:618724 heyn-sproul-jackson syndrome skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch UMLS:C1425630 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:NEK10 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch UMLS:C1425630 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch ncbigene:152110 semapv:UnspecifiedMatching OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch UMLS:C5231477 semapv:UnspecifiedMatching OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching @@ -40533,8 +40537,8 @@ OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformation OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch UMLS:C5231481 semapv:UnspecifiedMatching OMIM:618732 poirier-bienvenu neurodevelopmental syndrome skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching OMIM:618733 neuromuscular oculoauditory syndrome skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching -OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching +OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch ncbigene:83894 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:TTC29 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching @@ -40553,12 +40557,12 @@ OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atr OMIM:618742 ZBTB8A skos:exactMatch UMLS:C1428355 semapv:UnspecifiedMatching OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:ZBTB8A semapv:UnspecifiedMatching OMIM:618742 ZBTB8A skos:exactMatch ncbigene:653121 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch UMLS:C1826651 semapv:UnspecifiedMatching OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:PLPP7 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch UMLS:C1826651 semapv:UnspecifiedMatching OMIM:618743 PLPP7 skos:exactMatch ncbigene:84814 semapv:UnspecifiedMatching OMIM:618744 developmental and epileptic encephalopathy 83 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching -OMIM:618745 spermatogenic failure 42 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:618745 spermatogenic failure 42 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching +OMIM:618745 spermatogenic failure 42 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:618746 CTXN3 skos:exactMatch UMLS:C1429082 semapv:UnspecifiedMatching OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:CTXN3 semapv:UnspecifiedMatching OMIM:618746 CTXN3 skos:exactMatch ncbigene:613212 semapv:UnspecifiedMatching @@ -40566,25 +40570,25 @@ OMIM:618747 C1ORF61 skos:exactMatch UMLS:C1823207 semapv:UnspecifiedMatching OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:MIR9-1HG semapv:UnspecifiedMatching OMIM:618747 C1ORF61 skos:exactMatch ncbigene:10485 semapv:UnspecifiedMatching OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:LRRC17 semapv:UnspecifiedMatching OMIM:618749 LRRC17 skos:exactMatch ncbigene:10234 semapv:UnspecifiedMatching OMIM:618749 LRRC17 skos:exactMatch UMLS:C1424621 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:LRRC17 semapv:UnspecifiedMatching OMIM:618750 ABT1 skos:exactMatch UMLS:C1424941 semapv:UnspecifiedMatching OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:ABT1 semapv:UnspecifiedMatching OMIM:618750 ABT1 skos:exactMatch ncbigene:29777 semapv:UnspecifiedMatching OMIM:618751 spermatogenic failure 43 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching OMIM:618751 spermatogenic failure 43 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching -OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:LRRC41 semapv:UnspecifiedMatching OMIM:618753 LRRC41 skos:exactMatch ncbigene:10489 semapv:UnspecifiedMatching OMIM:618753 LRRC41 skos:exactMatch UMLS:C1825888 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:LRRC41 semapv:UnspecifiedMatching OMIM:618754 CPQ skos:exactMatch UMLS:C2985237 semapv:UnspecifiedMatching OMIM:618754 CPQ skos:exactMatch hgnc.symbol:CPQ semapv:UnspecifiedMatching OMIM:618754 CPQ skos:exactMatch ncbigene:10404 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch ncbigene:647087 semapv:UnspecifiedMatching OMIM:618755 STMP1 skos:exactMatch UMLS:C3469749 semapv:UnspecifiedMatching OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:STMP1 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch ncbigene:647087 semapv:UnspecifiedMatching OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:ABHD10 semapv:UnspecifiedMatching OMIM:618756 ABHD10 skos:exactMatch ncbigene:55347 semapv:UnspecifiedMatching OMIM:618756 ABHD10 skos:exactMatch UMLS:C1538895 semapv:UnspecifiedMatching @@ -40594,9 +40598,9 @@ OMIM:618757 CYB561A3 skos:exactMatch ncbigene:220002 semapv:UnspecifiedMatching OMIM:618758 DRC3 skos:exactMatch UMLS:C1825895 semapv:UnspecifiedMatching OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:DRC3 semapv:UnspecifiedMatching OMIM:618758 DRC3 skos:exactMatch ncbigene:83450 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:CABP7 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch UMLS:C1427154 semapv:UnspecifiedMatching OMIM:618759 CABP7 skos:exactMatch ncbigene:164633 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch UMLS:C1427154 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:CABP7 semapv:UnspecifiedMatching OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch UMLS:C5231491 semapv:UnspecifiedMatching OMIM:618761 catifa syndrome skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching OMIM:618762 DNPH1 skos:exactMatch UMLS:C1427424 semapv:UnspecifiedMatching @@ -40604,33 +40608,33 @@ OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:DNPH1 semapv:UnspecifiedMatching OMIM:618762 DNPH1 skos:exactMatch ncbigene:10591 semapv:UnspecifiedMatching OMIM:618763 joubert syndrome 36 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching OMIM:618763 joubert syndrome 36 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch UMLS:C1428228 semapv:UnspecifiedMatching OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:CACUL1 semapv:UnspecifiedMatching OMIM:618764 CACUL1 skos:exactMatch ncbigene:143384 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch UMLS:C1428228 semapv:UnspecifiedMatching OMIM:618765 ESF1 skos:exactMatch ncbigene:51575 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch UMLS:C1825066 semapv:UnspecifiedMatching OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:ESF1 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch UMLS:C1825066 semapv:UnspecifiedMatching OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch UMLS:C1540249 semapv:UnspecifiedMatching OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:DRC7 semapv:UnspecifiedMatching OMIM:618769 DRC7 skos:exactMatch ncbigene:84229 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch UMLS:C1540249 semapv:UnspecifiedMatching OMIM:618770 spastic paraplegia 82, autosomal recessive skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch ncbigene:25864 semapv:UnspecifiedMatching OMIM:618771 ABHD14A skos:exactMatch UMLS:C1538897 semapv:UnspecifiedMatching OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:ABHD14A semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch ncbigene:25864 semapv:UnspecifiedMatching OMIM:618772 CABLES2 skos:exactMatch UMLS:C1424021 semapv:UnspecifiedMatching OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:CABLES2 semapv:UnspecifiedMatching OMIM:618772 CABLES2 skos:exactMatch ncbigene:81928 semapv:UnspecifiedMatching OMIM:618773 lymphatic malformation 8 skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching OMIM:618774 cebalid syndrome skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching -OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching -OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching +OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching OMIM:618777 CAPN8 skos:exactMatch UMLS:C1413118 semapv:UnspecifiedMatching OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:CAPN8 semapv:UnspecifiedMatching OMIM:618777 CAPN8 skos:exactMatch ncbigene:388743 semapv:UnspecifiedMatching @@ -40638,20 +40642,20 @@ OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch UMLS:C5394059 semapv OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:618779 coffin-siris syndrome 11 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching OMIM:618779 coffin-siris syndrome 11 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching -OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching +OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching +OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching +OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch UMLS:C1413182 semapv:UnspecifiedMatching OMIM:618783 CCNI skos:exactMatch hgnc.symbol:CCNI semapv:UnspecifiedMatching OMIM:618783 CCNI skos:exactMatch ncbigene:10983 semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch UMLS:C1413182 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch UMLS:C1823748 semapv:UnspecifiedMatching OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:PITHD1 semapv:UnspecifiedMatching OMIM:618784 PITHD1 skos:exactMatch ncbigene:57095 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch UMLS:C1823748 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:CDCA2 semapv:UnspecifiedMatching OMIM:618785 CDCA2 skos:exactMatch ncbigene:157313 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:CDCA2 semapv:UnspecifiedMatching OMIM:618785 CDCA2 skos:exactMatch UMLS:C1422795 semapv:UnspecifiedMatching OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching @@ -40671,9 +40675,9 @@ OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:KCTD6 semapv:UnspecifiedMatching OMIM:618791 KCTD6 skos:exactMatch ncbigene:200845 semapv:UnspecifiedMatching OMIM:618792 developmental and epileptic encephalopathy 84 skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching OMIM:618793 intellectual developmental disorder, autosomal dominant 62 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch ncbigene:9920 semapv:UnspecifiedMatching OMIM:618794 KBTBD11 skos:exactMatch UMLS:C1825643 semapv:UnspecifiedMatching OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:KBTBD11 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch ncbigene:9920 semapv:UnspecifiedMatching OMIM:618795 juvenile arthritis skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching OMIM:618795 juvenile arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching OMIM:618796 SAC3D1 skos:exactMatch UMLS:C1539720 semapv:UnspecifiedMatching @@ -40681,16 +40685,16 @@ OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:SAC3D1 semapv:UnspecifiedMatching OMIM:618796 SAC3D1 skos:exactMatch ncbigene:29901 semapv:UnspecifiedMatching OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching OMIM:618798 beck-fahrner syndrome skos:exactMatch UMLS:C5394097 semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:CAPSL semapv:UnspecifiedMatching OMIM:618799 CAPSL skos:exactMatch UMLS:C1824527 semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:CAPSL semapv:UnspecifiedMatching OMIM:618799 CAPSL skos:exactMatch ncbigene:133690 semapv:UnspecifiedMatching OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch hgnc.symbol:THG1L semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch UMLS:C1823272 semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch hgnc.symbol:THG1L semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch ncbigene:54974 semapv:UnspecifiedMatching OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching OMIM:618804 sandestig-stefanova syndrome skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching @@ -40699,8 +40703,8 @@ OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autos OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching OMIM:618807 lipoprotein(a) quantitative trait locus skos:exactMatch UMLS:C5394134 semapv:UnspecifiedMatching OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch UMLS:C5394135 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch UMLS:C3890491 semapv:UnspecifiedMatching OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:PIGBOS1 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch UMLS:C3890491 semapv:UnspecifiedMatching OMIM:618809 PIGBOS1 skos:exactMatch ncbigene:101928527 semapv:UnspecifiedMatching OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching OMIM:618811 mitochondrial DNA depletion syndrome 18 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching @@ -40728,8 +40732,8 @@ OMIM:618819 PBXIP1 skos:exactMatch UMLS:C1427407 semapv:UnspecifiedMatching OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:PBXIP1 semapv:UnspecifiedMatching OMIM:618820 genitourinary and/or brain malformation syndrome skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching OMIM:618821 rhizomelic limb shortening with dysmorphic features skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching -OMIM:618822 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching -OMIM:618823 myopathy, congenital proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching +OMIM:618822 congenital myopathy 9a skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching +OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching @@ -40744,8 +40748,8 @@ OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:TMEM37 semapv:UnspecifiedMatching OMIM:618831 TMEM37 skos:exactMatch ncbigene:140738 semapv:UnspecifiedMatching OMIM:618832 epilepsy, early-onset, with or without developmental delay skos:exactMatch UMLS:C5394228 semapv:UnspecifiedMatching OMIM:618833 RALGAPB skos:exactMatch ncbigene:57148 semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:RALGAPB semapv:UnspecifiedMatching OMIM:618833 RALGAPB skos:exactMatch UMLS:C1825680 semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:RALGAPB semapv:UnspecifiedMatching OMIM:618834 LAMTOR4 skos:exactMatch UMLS:C3541686 semapv:UnspecifiedMatching OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:LAMTOR4 semapv:UnspecifiedMatching OMIM:618834 LAMTOR4 skos:exactMatch ncbigene:389541 semapv:UnspecifiedMatching @@ -40764,16 +40768,16 @@ OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch Orphanet OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching OMIM:618842 HORMAD2 skos:exactMatch ncbigene:150280 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch UMLS:C1539675 semapv:UnspecifiedMatching OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:HORMAD2 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch UMLS:C1539675 semapv:UnspecifiedMatching OMIM:618843 LAYN skos:exactMatch UMLS:C1825794 semapv:UnspecifiedMatching OMIM:618843 LAYN skos:exactMatch hgnc.symbol:LAYN semapv:UnspecifiedMatching OMIM:618843 LAYN skos:exactMatch ncbigene:143903 semapv:UnspecifiedMatching OMIM:618844 L3MBTL3 skos:exactMatch UMLS:C1427866 semapv:UnspecifiedMatching OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:L3MBTL3 semapv:UnspecifiedMatching OMIM:618844 L3MBTL3 skos:exactMatch ncbigene:84456 semapv:UnspecifiedMatching -OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching +OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching OMIM:618846 diets-jongmans syndrome skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching OMIM:618847 immunodeficiency 66 skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching @@ -40781,10 +40785,10 @@ OMIM:618849 bone marrow failure syndrome 6 skos:exactMatch UMLS:C5394274 semapv: OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching OMIM:618851 combined oxidative phosphorylation deficiency 43 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching OMIM:618852 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching -OMIM:618853 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching OMIM:618853 anauxetic dysplasia 3 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch ncbigene:60559 semapv:UnspecifiedMatching +OMIM:618853 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:SPCS3 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch ncbigene:60559 semapv:UnspecifiedMatching OMIM:618854 SPCS3 skos:exactMatch UMLS:C1539819 semapv:UnspecifiedMatching OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching @@ -40808,26 +40812,26 @@ OMIM:618863 retinal dystrophy with leukodystrophy skos:exactMatch UMLS:C5394315 OMIM:618864 C19ORF48 skos:exactMatch ncbigene:84798 semapv:UnspecifiedMatching OMIM:618864 C19ORF48 skos:exactMatch UMLS:C1824489 semapv:UnspecifiedMatching OMIM:618864 C19ORF48 skos:exactMatch hgnc.symbol:C19orf48P semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch ncbigene:387119 semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch UMLS:C3469888 semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:CEP85L semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch ncbigene:387119 semapv:UnspecifiedMatching OMIM:618866 tremor, hereditary essential, 6 skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch hgnc.symbol:RHOF semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch UMLS:C1423669 semapv:UnspecifiedMatching OMIM:618867 RHOF skos:exactMatch ncbigene:54509 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch UMLS:C1423669 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch hgnc.symbol:RHOF semapv:UnspecifiedMatching OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch ncbigene:255488 semapv:UnspecifiedMatching OMIM:618869 RNF144B skos:exactMatch UMLS:C1427625 semapv:UnspecifiedMatching OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:RNF144B semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch ncbigene:255488 semapv:UnspecifiedMatching OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching OMIM:618871 ARHGEF16 skos:exactMatch UMLS:C1423545 semapv:UnspecifiedMatching OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:ARHGEF16 semapv:UnspecifiedMatching OMIM:618871 ARHGEF16 skos:exactMatch ncbigene:27237 semapv:UnspecifiedMatching OMIM:618872 nizon-isidor syndrome skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching OMIM:618873 lissencephaly 10 skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching -OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching +OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching OMIM:618876 epilepsy, progressive myoclonic, 11 skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching @@ -40836,19 +40840,19 @@ OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, w OMIM:618880 glaucoma, primary closed-angle skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching OMIM:618881 galactosemia 4 skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching OMIM:618881 galactosemia 4 skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching -OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching -OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching +OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching +OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching OMIM:618884 proteinuria, chronic benign skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching OMIM:618885 congenital disorder of glycosylation, iia iit skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching OMIM:618886 pseudo-torch syndrome 3 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch ncbigene:84807 semapv:UnspecifiedMatching OMIM:618887 NFKBID skos:exactMatch UMLS:C2681901 semapv:UnspecifiedMatching OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:NFKBID semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch ncbigene:84807 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:CASS4 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch UMLS:C1423799 semapv:UnspecifiedMatching OMIM:618888 CASS4 skos:exactMatch ncbigene:57091 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch UMLS:C1423799 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:CASS4 semapv:UnspecifiedMatching OMIM:618889 liberfarb syndrome skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch UMLS:C5394423 semapv:UnspecifiedMatching OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching @@ -40856,21 +40860,21 @@ OMIM:618892 harderoporphyria skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMat OMIM:618893 NOL4L skos:exactMatch UMLS:C1423987 semapv:UnspecifiedMatching OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:NOL4L semapv:UnspecifiedMatching OMIM:618893 NOL4L skos:exactMatch ncbigene:140688 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch UMLS:C1424062 semapv:UnspecifiedMatching OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:ROMO1 semapv:UnspecifiedMatching OMIM:618894 ROMO1 skos:exactMatch ncbigene:140823 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch UMLS:C1424062 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch ncbigene:126123 semapv:UnspecifiedMatching OMIM:618895 IZUMO2 skos:exactMatch UMLS:C1824482 semapv:UnspecifiedMatching OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:IZUMO2 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch UMLS:C1538360 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch ncbigene:126123 semapv:UnspecifiedMatching OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:IZUMO3 semapv:UnspecifiedMatching OMIM:618896 IZUMO3 skos:exactMatch ncbigene:100129669 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch UMLS:C3147678 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch UMLS:C1538360 semapv:UnspecifiedMatching OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:IZUMO4 semapv:UnspecifiedMatching OMIM:618897 IZUMO4 skos:exactMatch ncbigene:113177 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:CEP85 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch UMLS:C3147678 semapv:UnspecifiedMatching OMIM:618898 CEP85 skos:exactMatch ncbigene:64793 semapv:UnspecifiedMatching OMIM:618898 CEP85 skos:exactMatch UMLS:C1824546 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:CEP85 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch UMLS:C1428881 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:MAN2B2 semapv:UnspecifiedMatching @@ -40879,16 +40883,16 @@ OMIM:618900 ZCWPW1 skos:exactMatch UMLS:C1428099 semapv:UnspecifiedMatching OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:ZCWPW1 semapv:UnspecifiedMatching OMIM:618900 ZCWPW1 skos:exactMatch ncbigene:55063 semapv:UnspecifiedMatching OMIM:618901 46,xx sex reversal 5 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch ncbigene:339175 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:METTL2A semapv:UnspecifiedMatching OMIM:618902 METTL2A skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:METTL2A semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch ncbigene:339175 semapv:UnspecifiedMatching OMIM:618903 METTL6 skos:exactMatch UMLS:C1825975 semapv:UnspecifiedMatching OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:METTL6 semapv:UnspecifiedMatching OMIM:618903 METTL6 skos:exactMatch ncbigene:131965 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch UMLS:C1539217 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:DALRD3 semapv:UnspecifiedMatching OMIM:618904 DALRD3 skos:exactMatch ncbigene:55152 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch UMLS:C1539217 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5394446 semapv:UnspecifiedMatching OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5400127 semapv:UnspecifiedMatching OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch UMLS:C5394447 semapv:UnspecifiedMatching @@ -40897,58 +40901,58 @@ OMIM:618907 silver-russell syndrome 4 skos:exactMatch UMLS:C5394450 semapv:Unspe OMIM:618907 silver-russell syndrome 4 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching OMIM:618908 silver-russell syndrome 5 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching OMIM:618908 silver-russell syndrome 5 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:ILKAP semapv:UnspecifiedMatching OMIM:618909 ILKAP skos:exactMatch ncbigene:80895 semapv:UnspecifiedMatching OMIM:618909 ILKAP skos:exactMatch UMLS:C1423578 semapv:UnspecifiedMatching -OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:ILKAP semapv:UnspecifiedMatching OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching +OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618911 C16ORF92 skos:exactMatch UMLS:C2681297 semapv:UnspecifiedMatching OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:C16orf92 semapv:UnspecifiedMatching OMIM:618911 C16ORF92 skos:exactMatch ncbigene:146378 semapv:UnspecifiedMatching OMIM:618912 sorbitol dehydrogenase deficiency with peripheral neuropathy skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching +OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:KLHL42 semapv:UnspecifiedMatching OMIM:618919 KLHL42 skos:exactMatch ncbigene:57542 semapv:UnspecifiedMatching OMIM:618919 KLHL42 skos:exactMatch UMLS:C1537491 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:KLHL42 semapv:UnspecifiedMatching -OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching +OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:618921 LACTB2 skos:exactMatch UMLS:C1425568 semapv:UnspecifiedMatching OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:LACTB2 semapv:UnspecifiedMatching OMIM:618921 LACTB2 skos:exactMatch ncbigene:51110 semapv:UnspecifiedMatching OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch UMLS:C2681462 semapv:UnspecifiedMatching OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:FABP12 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch UMLS:C2681462 semapv:UnspecifiedMatching OMIM:618923 FABP12 skos:exactMatch ncbigene:646486 semapv:UnspecifiedMatching OMIM:618924 episodic ataxia, iia 9 skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch ncbigene:29909 semapv:UnspecifiedMatching OMIM:618925 GPR171 skos:exactMatch UMLS:C1539606 semapv:UnspecifiedMatching OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:GPR171 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch ncbigene:29909 semapv:UnspecifiedMatching OMIM:618926 OMD skos:exactMatch UMLS:C1417948 semapv:UnspecifiedMatching OMIM:618926 OMD skos:exactMatch hgnc.symbol:OMD semapv:UnspecifiedMatching OMIM:618926 OMD skos:exactMatch ncbigene:4958 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:KRTAP24-1 semapv:UnspecifiedMatching OMIM:618927 KRTAP24-1 skos:exactMatch ncbigene:643803 semapv:UnspecifiedMatching OMIM:618927 KRTAP24-1 skos:exactMatch UMLS:C2239642 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:KRTAP24-1 semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch UMLS:C1537556 semapv:UnspecifiedMatching OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:LDHAL6A semapv:UnspecifiedMatching OMIM:618928 LDHAL6A skos:exactMatch ncbigene:160287 semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch UMLS:C1537556 semapv:UnspecifiedMatching OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch ncbigene:441459 semapv:UnspecifiedMatching OMIM:618930 ANKRD18B skos:exactMatch UMLS:C1538281 semapv:UnspecifiedMatching OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:ANKRD18B semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch ncbigene:441459 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch UMLS:C1824076 semapv:UnspecifiedMatching OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:ZNFX1 semapv:UnspecifiedMatching OMIM:618931 ZNFX1 skos:exactMatch ncbigene:57169 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch UMLS:C1824076 semapv:UnspecifiedMatching OMIM:618932 OST4 skos:exactMatch ncbigene:100128731 semapv:UnspecifiedMatching OMIM:618932 OST4 skos:exactMatch hgnc.symbol:OST4 semapv:UnspecifiedMatching OMIM:618932 OST4 skos:exactMatch UMLS:C2829972 semapv:UnspecifiedMatching @@ -40958,38 +40962,38 @@ OMIM:618933 SH3RF3 skos:exactMatch ncbigene:344558 semapv:UnspecifiedMatching OMIM:618934 CCSER1 skos:exactMatch UMLS:C2829370 semapv:UnspecifiedMatching OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:CCSER1 semapv:UnspecifiedMatching OMIM:618934 CCSER1 skos:exactMatch ncbigene:401145 semapv:UnspecifiedMatching -OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch ncbigene:128497 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:SPATA25 semapv:UnspecifiedMatching +OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching OMIM:618936 SPATA25 skos:exactMatch UMLS:C3469867 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:SPATA25 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch ncbigene:128497 semapv:UnspecifiedMatching OMIM:618937 PPP1R35 skos:exactMatch UMLS:C3471437 semapv:UnspecifiedMatching OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:PPP1R35 semapv:UnspecifiedMatching OMIM:618937 PPP1R35 skos:exactMatch ncbigene:221908 semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch UMLS:C5240280 semapv:UnspecifiedMatching OMIM:618938 LASTR skos:exactMatch hgnc.symbol:LASTR semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch UMLS:C5240280 semapv:UnspecifiedMatching OMIM:618938 LASTR skos:exactMatch ncbigene:105376382 semapv:UnspecifiedMatching -OMIM:618939 treacher collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching OMIM:618939 treacher collins syndrome 4 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching +OMIM:618939 treacher collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch ncbigene:90416 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch UMLS:C1824556 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:CCDC32 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:IQANK1 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch ncbigene:90416 semapv:UnspecifiedMatching OMIM:618942 IQANK1 skos:exactMatch ncbigene:642574 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch UMLS:C4320409 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:IQANK1 semapv:UnspecifiedMatching OMIM:618942 IQANK1 skos:exactMatch UMLS:C5394549 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch ncbigene:319103 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:SNORD8 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch UMLS:C4320409 semapv:UnspecifiedMatching OMIM:618943 SNORD8 skos:exactMatch UMLS:C1822912 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:SNORD8 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch ncbigene:319103 semapv:UnspecifiedMatching OMIM:618944 hyper-ige recurrent infection syndrome 5, autosomal recessive skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching OMIM:618945 SPACA6 skos:exactMatch UMLS:C2681867 semapv:UnspecifiedMatching OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:SPACA6 semapv:UnspecifiedMatching OMIM:618945 SPACA6 skos:exactMatch ncbigene:147650 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch UMLS:C1427740 semapv:UnspecifiedMatching OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:LLCFC1 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch UMLS:C1427740 semapv:UnspecifiedMatching OMIM:618946 LLCFC1 skos:exactMatch ncbigene:135927 semapv:UnspecifiedMatching OMIM:618947 arthrogryposis multiplex congenita 5 skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching @@ -40999,40 +41003,40 @@ OMIM:618949 RIMKLA skos:exactMatch ncbigene:284716 semapv:UnspecifiedMatching OMIM:618950 suleiman-el-hattab syndrome skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching OMIM:618951 combined oxidative phosphorylation deficiency 45 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching OMIM:618952 combined oxidative phosphorylation deficiency 46 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch UMLS:C1539214 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:CYP4Z1 semapv:UnspecifiedMatching OMIM:618953 CYP4Z1 skos:exactMatch ncbigene:199974 semapv:UnspecifiedMatching -OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:CYP4Z2P semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:CYP4Z1 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch UMLS:C1539214 semapv:UnspecifiedMatching OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch UMLS:C2681396 semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:CYP4Z2P semapv:UnspecifiedMatching OMIM:618955 retinitis pigmentosa 89 skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching OMIM:618955 retinitis pigmentosa 89 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618956 RHEBL1 skos:exactMatch UMLS:C1419384 semapv:UnspecifiedMatching OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:RHEBL1 semapv:UnspecifiedMatching OMIM:618956 RHEBL1 skos:exactMatch ncbigene:121268 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch UMLS:C1428472 semapv:UnspecifiedMatching OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:ANKRD27 semapv:UnspecifiedMatching OMIM:618957 ANKRD27 skos:exactMatch ncbigene:84079 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch UMLS:C1428472 semapv:UnspecifiedMatching OMIM:618958 combined oxidative phosphorylation deficiency 47 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching -OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching +OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618960 mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch UMLS:C1538556 semapv:UnspecifiedMatching OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:OVCH2 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch UMLS:C1538556 semapv:UnspecifiedMatching OMIM:618962 OVCH2 skos:exactMatch ncbigene:341277 semapv:UnspecifiedMatching OMIM:618963 immunodeficiency 69 skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch ncbigene:64795 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:RMND5A semapv:UnspecifiedMatching OMIM:618964 RMND5A skos:exactMatch UMLS:C1826834 semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:RMND5A semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch ncbigene:64795 semapv:UnspecifiedMatching OMIM:618965 TM9SF1 skos:exactMatch UMLS:C1420772 semapv:UnspecifiedMatching OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:TM9SF1 semapv:UnspecifiedMatching OMIM:618965 TM9SF1 skos:exactMatch ncbigene:10548 semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch UMLS:C1823425 semapv:UnspecifiedMatching OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:TMEM161A semapv:UnspecifiedMatching OMIM:618966 TMEM161A skos:exactMatch ncbigene:54929 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:ABCF3 semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch UMLS:C1823425 semapv:UnspecifiedMatching OMIM:618967 ABCF3 skos:exactMatch ncbigene:55324 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:ABCF3 semapv:UnspecifiedMatching OMIM:618967 ABCF3 skos:exactMatch UMLS:C1412095 semapv:UnspecifiedMatching OMIM:618968 C1ORF146 skos:exactMatch UMLS:C1823765 semapv:UnspecifiedMatching OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:C1orf146 semapv:UnspecifiedMatching @@ -41044,55 +41048,55 @@ OMIM:618972 mitochondrial DNA depletion syndrome 19 skos:exactMatch UMLS:C543651 OMIM:618973 sodium-dependent multivitamin transporter deficiency skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching +OMIM:618975 congenital myopathy 17 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching OMIM:618976 MYOSLID skos:exactMatch UMLS:C4320587 semapv:UnspecifiedMatching OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:MYOSLID semapv:UnspecifiedMatching OMIM:618976 MYOSLID skos:exactMatch ncbigene:105373853 semapv:UnspecifiedMatching OMIM:618977 optic atrophy 12 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching OMIM:618977 optic atrophy 12 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch UMLS:C1823428 semapv:UnspecifiedMatching OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:TMEM163 semapv:UnspecifiedMatching OMIM:618978 TMEM163 skos:exactMatch ncbigene:81615 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch UMLS:C1823428 semapv:UnspecifiedMatching OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch UMLS:C3888126 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch ncbigene:201134 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:CEP112 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C1824570 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:CEP112 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch ncbigene:201134 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch ncbigene:57020 semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch UMLS:C2240311 semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:VPS35L semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch ncbigene:57020 semapv:UnspecifiedMatching -OMIM:618982 immunodeficiency 72 with autoinflammation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching +OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching OMIM:618983 blood group, lewis system skos:exactMatch UMLS:C0023595 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch ncbigene:256979 semapv:UnspecifiedMatching OMIM:618984 SUN3 skos:exactMatch UMLS:C1539898 semapv:UnspecifiedMatching OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:SUN3 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch ncbigene:256979 semapv:UnspecifiedMatching OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch UMLS:C2239304 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:CLRN2 semapv:UnspecifiedMatching OMIM:618988 CLRN2 skos:exactMatch ncbigene:645104 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch ncbigene:338773 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:CLRN2 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch UMLS:C2239304 semapv:UnspecifiedMatching OMIM:618989 TMEM119 skos:exactMatch UMLS:C1823380 semapv:UnspecifiedMatching OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:TMEM119 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch ncbigene:338773 semapv:UnspecifiedMatching OMIM:618990 EVA1A skos:exactMatch UMLS:C1823431 semapv:UnspecifiedMatching OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:EVA1A semapv:UnspecifiedMatching OMIM:618990 EVA1A skos:exactMatch ncbigene:84141 semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch UMLS:C1419953 semapv:UnspecifiedMatching OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:SEMA4G semapv:UnspecifiedMatching OMIM:618991 SEMA4G skos:exactMatch ncbigene:57715 semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch UMLS:C1419953 semapv:UnspecifiedMatching OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch ncbigene:727800 semapv:UnspecifiedMatching OMIM:618993 RNF208 skos:exactMatch UMLS:C2239896 semapv:UnspecifiedMatching OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:RNF208 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch ncbigene:727800 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch ncbigene:84842 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C1825370 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch hgnc.symbol:HPDL semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch ncbigene:84842 semapv:UnspecifiedMatching OMIM:618995 BPESC1 skos:exactMatch ncbigene:60467 semapv:UnspecifiedMatching OMIM:618995 BPESC1 skos:exactMatch UMLS:C1421889 semapv:UnspecifiedMatching OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:BPESC1 semapv:UnspecifiedMatching @@ -41104,20 +41108,20 @@ OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:CDADC1 semapv:UnspecifiedMatching OMIM:618997 CDADC1 skos:exactMatch ncbigene:81602 semapv:UnspecifiedMatching OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching -OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching +OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619001 ANGEL2 skos:exactMatch UMLS:C1823660 semapv:UnspecifiedMatching OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:ANGEL2 semapv:UnspecifiedMatching OMIM:619001 ANGEL2 skos:exactMatch ncbigene:90806 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch UMLS:C1537598 semapv:UnspecifiedMatching OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:LRRC18 semapv:UnspecifiedMatching OMIM:619002 LRRC18 skos:exactMatch ncbigene:474354 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch UMLS:C1537598 semapv:UnspecifiedMatching OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching OMIM:619004 deeah syndrome skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch ncbigene:54841 semapv:UnspecifiedMatching OMIM:619006 BIVM skos:exactMatch UMLS:C1423926 semapv:UnspecifiedMatching OMIM:619006 BIVM skos:exactMatch hgnc.symbol:BIVM semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch ncbigene:54841 semapv:UnspecifiedMatching OMIM:619007 retinitis pigmentosa 90 skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching OMIM:619007 retinitis pigmentosa 90 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:619008 LINC00598 skos:exactMatch UMLS:C1427631 semapv:UnspecifiedMatching @@ -41131,43 +41135,43 @@ OMIM:619011 oocyte maturation defect 9 skos:exactMatch UMLS:C5436599 semapv:Unsp OMIM:619012 combined oxidative phosphorylation deficiency 48 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch ncbigene:91875 semapv:UnspecifiedMatching OMIM:619014 TTC5 skos:exactMatch UMLS:C1426138 semapv:UnspecifiedMatching OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:TTC5 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch ncbigene:91875 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch ncbigene:56943 semapv:UnspecifiedMatching OMIM:619015 ENY2 skos:exactMatch UMLS:C1825055 semapv:UnspecifiedMatching OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:ENY2 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch ncbigene:56943 semapv:UnspecifiedMatching OMIM:619016 ifap syndrome 2 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching OMIM:619016 ifap syndrome 2 skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch UMLS:C1424334 semapv:UnspecifiedMatching OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:RHBDL3 semapv:UnspecifiedMatching OMIM:619017 RHBDL3 skos:exactMatch ncbigene:162494 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch UMLS:C1424334 semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch UMLS:C1537737 semapv:UnspecifiedMatching OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:MIR30B semapv:UnspecifiedMatching OMIM:619018 MIR30B skos:exactMatch ncbigene:407030 semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch UMLS:C1537737 semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch UMLS:C1537740 semapv:UnspecifiedMatching OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:MIR30D semapv:UnspecifiedMatching OMIM:619019 MIR30D skos:exactMatch ncbigene:407033 semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch UMLS:C1537740 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch ncbigene:55805 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:LRP2BP semapv:UnspecifiedMatching OMIM:619020 LRP2BP skos:exactMatch UMLS:C1537591 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch UMLS:C1538295 semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:LRP2BP semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch ncbigene:55805 semapv:UnspecifiedMatching OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:ANKRD37 semapv:UnspecifiedMatching OMIM:619021 ANKRD37 skos:exactMatch ncbigene:353322 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch UMLS:C1538295 semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch ncbigene:161145 semapv:UnspecifiedMatching OMIM:619022 TMEM229B skos:exactMatch UMLS:C1426714 semapv:UnspecifiedMatching OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:TMEM229B semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch ncbigene:161145 semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch UMLS:C2678545 semapv:UnspecifiedMatching OMIM:619023 OSTC skos:exactMatch hgnc.symbol:OSTC semapv:UnspecifiedMatching OMIM:619023 OSTC skos:exactMatch ncbigene:58505 semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch UMLS:C2678545 semapv:UnspecifiedMatching OMIM:619024 combined oxidative phosphorylation deficiency 49 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching OMIM:619025 combined oxidative phosphorylation deficiency 50 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching OMIM:619027 spastic paraplegia 83, autosomal recessive skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching -OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:KRTCAP2 semapv:UnspecifiedMatching +OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching OMIM:619029 KRTCAP2 skos:exactMatch UMLS:C1428752 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:KRTCAP2 semapv:UnspecifiedMatching OMIM:619029 KRTCAP2 skos:exactMatch ncbigene:200185 semapv:UnspecifiedMatching OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching @@ -41175,12 +41179,12 @@ OMIM:619032 RCN3 skos:exactMatch UMLS:C1427360 semapv:UnspecifiedMatching OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:RCN3 semapv:UnspecifiedMatching OMIM:619032 RCN3 skos:exactMatch ncbigene:57333 semapv:UnspecifiedMatching OMIM:619033 vissers-bodmer syndrome skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch ncbigene:348093 semapv:UnspecifiedMatching OMIM:619034 RBPMS2 skos:exactMatch UMLS:C1538819 semapv:UnspecifiedMatching OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:RBPMS2 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch ncbigene:348093 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch ncbigene:407025 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:MIR29B2 semapv:UnspecifiedMatching OMIM:619035 MIR29B2 skos:exactMatch UMLS:C1537734 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:MIR29B2 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch ncbigene:407025 semapv:UnspecifiedMatching OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching OMIM:619037 LRRC34 skos:exactMatch UMLS:C1537609 semapv:UnspecifiedMatching OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:LRRC34 semapv:UnspecifiedMatching @@ -41189,51 +41193,51 @@ OMIM:619038 SPOCD1 skos:exactMatch UMLS:C1539846 semapv:UnspecifiedMatching OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:SPOCD1 semapv:UnspecifiedMatching OMIM:619038 SPOCD1 skos:exactMatch ncbigene:90853 semapv:UnspecifiedMatching OMIM:619039 REPIN1 skos:exactMatch ncbigene:29803 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:REPIN1 semapv:UnspecifiedMatching OMIM:619039 REPIN1 skos:exactMatch UMLS:C1425179 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:REPIN1 semapv:UnspecifiedMatching OMIM:619040 myofibrillar myopathy 10 skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching -OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching +OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching OMIM:619042 spinal muscular atrophy, infantile, james iia skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch UMLS:C1825614 semapv:UnspecifiedMatching OMIM:619043 IPPK skos:exactMatch hgnc.symbol:IPPK semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch UMLS:C1825614 semapv:UnspecifiedMatching OMIM:619043 IPPK skos:exactMatch ncbigene:64768 semapv:UnspecifiedMatching OMIM:619044 spermatogenic failure 44 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619044 spermatogenic failure 44 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch UMLS:C1539752 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:SERHL2 semapv:UnspecifiedMatching OMIM:619045 SERHL2 skos:exactMatch ncbigene:253190 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:SERHL2 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch UMLS:C1539752 semapv:UnspecifiedMatching OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619047 PPP1R32 skos:exactMatch UMLS:C3471436 semapv:UnspecifiedMatching OMIM:619047 PPP1R32 skos:exactMatch hgnc.symbol:PPP1R32 semapv:UnspecifiedMatching OMIM:619047 PPP1R32 skos:exactMatch ncbigene:220004 semapv:UnspecifiedMatching -OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch UMLS:C1824251 semapv:UnspecifiedMatching +OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619049 TDRP skos:exactMatch hgnc.symbol:TDRP semapv:UnspecifiedMatching OMIM:619049 TDRP skos:exactMatch ncbigene:157695 semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch UMLS:C1824251 semapv:UnspecifiedMatching OMIM:619050 HMGCLL1 skos:exactMatch UMLS:C1427507 semapv:UnspecifiedMatching OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:HMGCLL1 semapv:UnspecifiedMatching OMIM:619050 HMGCLL1 skos:exactMatch ncbigene:54511 semapv:UnspecifiedMatching OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching +OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching +OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching OMIM:619057 combined oxidative phosphorylation deficiency 51 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching +OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching @@ -41242,18 +41246,18 @@ OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch UMLS:C1429015 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch UMLS:C5436729 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:ZNF532 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch ncbigene:55205 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch ncbigene:83693 semapv:UnspecifiedMatching OMIM:619067 HSDL1 skos:exactMatch UMLS:C1537382 semapv:UnspecifiedMatching OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:HSDL1 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch ncbigene:83693 semapv:UnspecifiedMatching OMIM:619068 LRRC19 skos:exactMatch ncbigene:64922 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch UMLS:C1428058 semapv:UnspecifiedMatching OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:LRRC19 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch UMLS:C1428058 semapv:UnspecifiedMatching OMIM:619069 TENT5B skos:exactMatch UMLS:C1539444 semapv:UnspecifiedMatching OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:TENT5B semapv:UnspecifiedMatching OMIM:619069 TENT5B skos:exactMatch ncbigene:115572 semapv:UnspecifiedMatching @@ -41270,9 +41274,9 @@ OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain a OMIM:619077 HSPA4L skos:exactMatch UMLS:C1537386 semapv:UnspecifiedMatching OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:HSPA4L semapv:UnspecifiedMatching OMIM:619077 HSPA4L skos:exactMatch ncbigene:22824 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch ncbigene:55175 semapv:UnspecifiedMatching OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:KLHL11 semapv:UnspecifiedMatching OMIM:619078 KLHL11 skos:exactMatch UMLS:C1425947 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch ncbigene:55175 semapv:UnspecifiedMatching OMIM:619079 inflammatory bowel disease (crohn disease) 30 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching OMIM:619080 kilquist syndrome skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching @@ -41280,21 +41284,21 @@ OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch Orphanet:90635 semap OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching OMIM:619083 delpire-mcneill syndrome skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching OMIM:619083 delpire-mcneill syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch ncbigene:220359 semapv:UnspecifiedMatching OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:TIGD3 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch ncbigene:220359 semapv:UnspecifiedMatching OMIM:619084 TIGD3 skos:exactMatch UMLS:C1425454 semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch ncbigene:101928062 semapv:UnspecifiedMatching OMIM:619085 PRANCR skos:exactMatch UMLS:C5240597 semapv:UnspecifiedMatching OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:PRANCR semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch ncbigene:101928062 semapv:UnspecifiedMatching OMIM:619086 deafness, autosomal dominant 79 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching OMIM:619087 noonan syndrome 13 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching OMIM:619087 noonan syndrome 13 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch UMLS:C2240287 semapv:UnspecifiedMatching OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:NUGGC semapv:UnspecifiedMatching OMIM:619088 NUGGC skos:exactMatch ncbigene:389643 semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch UMLS:C2240287 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch UMLS:C1825352 semapv:UnspecifiedMatching OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:GIPC2 semapv:UnspecifiedMatching OMIM:619089 GIPC2 skos:exactMatch ncbigene:54810 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch UMLS:C1825352 semapv:UnspecifiedMatching OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching OMIM:619093 deafness, autosomal recessive 116 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching @@ -41302,16 +41306,16 @@ OMIM:619094 spermatogenic failure 45 skos:exactMatch UMLS:C5436791 semapv:Unspec OMIM:619094 spermatogenic failure 45 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619095 spermatogenic failure 46 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching OMIM:619095 spermatogenic failure 46 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching -OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching +OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch UMLS:C2240259 semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch hgnc.symbol:M1AP semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch UMLS:C2240259 semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch ncbigene:130951 semapv:UnspecifiedMatching -OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching +OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:CCDC25 semapv:UnspecifiedMatching OMIM:619100 CCDC25 skos:exactMatch ncbigene:55246 semapv:UnspecifiedMatching OMIM:619100 CCDC25 skos:exactMatch UMLS:C1824550 semapv:UnspecifiedMatching @@ -41320,41 +41324,41 @@ OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch Orphanet:252202 se OMIM:619102 spermatogenic failure 47 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching OMIM:619102 spermatogenic failure 47 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:RBM47 semapv:UnspecifiedMatching OMIM:619104 RBM47 skos:exactMatch ncbigene:54502 semapv:UnspecifiedMatching OMIM:619104 RBM47 skos:exactMatch UMLS:C2239875 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch UMLS:C1537741 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:MIR30E semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:RBM47 semapv:UnspecifiedMatching OMIM:619105 MIR30E skos:exactMatch ncbigene:407034 semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:MIR30E semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch UMLS:C1537741 semapv:UnspecifiedMatching OMIM:619106 PRRT3AS1 skos:exactMatch UMLS:C5436822 semapv:UnspecifiedMatching OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:PRRT3-AS1 semapv:UnspecifiedMatching OMIM:619106 PRRT3AS1 skos:exactMatch ncbigene:100874032 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:SNX33 semapv:UnspecifiedMatching OMIM:619107 SNX33 skos:exactMatch UMLS:C1822710 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:SNX33 semapv:UnspecifiedMatching OMIM:619107 SNX33 skos:exactMatch ncbigene:257364 semapv:UnspecifiedMatching -OMIM:619108 spermatogenic failure 48 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching OMIM:619108 spermatogenic failure 48 skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching +OMIM:619108 spermatogenic failure 48 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch ncbigene:90522 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:YIF1B semapv:UnspecifiedMatching OMIM:619109 YIF1B skos:exactMatch UMLS:C1538126 semapv:UnspecifiedMatching OMIM:619109 YIF1B skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:YIF1B semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch ncbigene:90522 semapv:UnspecifiedMatching OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching -OMIM:619111 coach syndrome 2 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching OMIM:619111 coach syndrome 2 skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching +OMIM:619111 coach syndrome 2 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching OMIM:619112 neuronopathy, distal hereditary motor, iia 5c skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching OMIM:619112 neuronopathy, distal hereditary motor, iia 5c skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching -OMIM:619113 coach syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching OMIM:619113 coach syndrome 3 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +OMIM:619113 coach syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching OMIM:619114 SMYD5 skos:exactMatch UMLS:C1424131 semapv:UnspecifiedMatching OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:SMYD5 semapv:UnspecifiedMatching OMIM:619114 SMYD5 skos:exactMatch ncbigene:10322 semapv:UnspecifiedMatching OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch UMLS:C1426756 semapv:UnspecifiedMatching OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:SLC39A9 semapv:UnspecifiedMatching OMIM:619116 SLC39A9 skos:exactMatch ncbigene:55334 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch UMLS:C1426756 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:ARL16 semapv:UnspecifiedMatching OMIM:619117 ARL16 skos:exactMatch ncbigene:339231 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:ARL16 semapv:UnspecifiedMatching OMIM:619117 ARL16 skos:exactMatch UMLS:C1824216 semapv:UnspecifiedMatching OMIM:619118 ATP13A1 skos:exactMatch UMLS:C1540214 semapv:UnspecifiedMatching OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:ATP13A1 semapv:UnspecifiedMatching @@ -41366,18 +41370,18 @@ OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:e OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching OMIM:619122 vertebral hypersegmentation and orofacial anomalies skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching OMIM:619123 cardiofacioneurodevelopmental syndrome skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching -OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching OMIM:619125 kaya-barakat-masson syndrome skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching -OMIM:619126 immunodeficiency 75 skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching +OMIM:619126 immunodeficiency 75 with lymphoproliferation skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching OMIM:619127 mandibuloacral dysplasia progeroid syndrome skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching OMIM:619128 HYI skos:exactMatch UMLS:C1825556 semapv:UnspecifiedMatching OMIM:619128 HYI skos:exactMatch hgnc.symbol:HYI semapv:UnspecifiedMatching OMIM:619128 HYI skos:exactMatch ncbigene:81888 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch ncbigene:159686 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:CFAP58 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch UMLS:C1428618 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:CFAP58 semapv:UnspecifiedMatching OMIM:619130 thrombocytopenia 7 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching OMIM:619130 thrombocytopenia 7 skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching @@ -41385,20 +41389,20 @@ OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch Orphanet:666 semapv OMIM:619134 SMYD4 skos:exactMatch UMLS:C1427288 semapv:UnspecifiedMatching OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:SMYD4 semapv:UnspecifiedMatching OMIM:619134 SMYD4 skos:exactMatch ncbigene:114826 semapv:UnspecifiedMatching -OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching +OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching OMIM:619136 SLC37A2 skos:exactMatch UMLS:C1427053 semapv:UnspecifiedMatching OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:SLC37A2 semapv:UnspecifiedMatching OMIM:619136 SLC37A2 skos:exactMatch ncbigene:219855 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch UMLS:C1427059 semapv:UnspecifiedMatching OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:SLC37A3 semapv:UnspecifiedMatching OMIM:619137 SLC37A3 skos:exactMatch ncbigene:84255 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch UMLS:C1427059 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:N4BP1 semapv:UnspecifiedMatching OMIM:619138 N4BP1 skos:exactMatch ncbigene:9683 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:N4BP1 semapv:UnspecifiedMatching OMIM:619138 N4BP1 skos:exactMatch UMLS:C2239766 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch ncbigene:55728 semapv:UnspecifiedMatching OMIM:619139 N4BP2 skos:exactMatch UMLS:C2239767 semapv:UnspecifiedMatching OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:N4BP2 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch ncbigene:55728 semapv:UnspecifiedMatching OMIM:619140 N4BP3 skos:exactMatch UMLS:C3148457 semapv:UnspecifiedMatching OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:N4BP3 semapv:UnspecifiedMatching OMIM:619140 N4BP3 skos:exactMatch ncbigene:23138 semapv:UnspecifiedMatching @@ -41415,8 +41419,8 @@ OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:SLC25A51 semapv:UnspecifiedMatc OMIM:619153 SLC25A51 skos:exactMatch ncbigene:92014 semapv:UnspecifiedMatching OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:LRRC47 semapv:UnspecifiedMatching OMIM:619154 LRRC47 skos:exactMatch ncbigene:57470 semapv:UnspecifiedMatching -OMIM:619156 DNAI4 skos:exactMatch ncbigene:79819 semapv:UnspecifiedMatching OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:DNAI4 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch ncbigene:79819 semapv:UnspecifiedMatching OMIM:619158 PIK3IP1 skos:exactMatch ncbigene:113791 semapv:UnspecifiedMatching OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:PIK3IP1 semapv:UnspecifiedMatching OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:CEACAM4 semapv:UnspecifiedMatching @@ -41449,28 +41453,28 @@ OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:TTLL3 semapv:UnspecifiedMatching OMIM:619195 TTLL3 skos:exactMatch ncbigene:26140 semapv:UnspecifiedMatching OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:EIF3L semapv:UnspecifiedMatching OMIM:619197 EIF3L skos:exactMatch ncbigene:51386 semapv:UnspecifiedMatching -OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:SDHAF4 semapv:UnspecifiedMatching OMIM:619198 SDHAF4 skos:exactMatch ncbigene:135154 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:SDHAF4 semapv:UnspecifiedMatching OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:SNX21 semapv:UnspecifiedMatching OMIM:619200 SNX21 skos:exactMatch ncbigene:90203 semapv:UnspecifiedMatching OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:NIP7 semapv:UnspecifiedMatching OMIM:619204 NIP7 skos:exactMatch ncbigene:51388 semapv:UnspecifiedMatching -OMIM:619205 GHITM skos:exactMatch ncbigene:27069 semapv:UnspecifiedMatching OMIM:619205 GHITM skos:exactMatch hgnc.symbol:GHITM semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch ncbigene:27069 semapv:UnspecifiedMatching OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:SCHIP1 semapv:UnspecifiedMatching OMIM:619206 SCHIP1 skos:exactMatch ncbigene:29970 semapv:UnspecifiedMatching -OMIM:619207 INO80D skos:exactMatch hgnc.symbol:INO80D semapv:UnspecifiedMatching OMIM:619207 INO80D skos:exactMatch ncbigene:54891 semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch hgnc.symbol:INO80D semapv:UnspecifiedMatching OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:HS3ST6 semapv:UnspecifiedMatching OMIM:619210 HS3ST6 skos:exactMatch ncbigene:64711 semapv:UnspecifiedMatching -OMIM:619211 HPCAL4 skos:exactMatch ncbigene:51440 semapv:UnspecifiedMatching OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:HPCAL4 semapv:UnspecifiedMatching -OMIM:619212 IRAIN skos:exactMatch ncbigene:104472848 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch ncbigene:51440 semapv:UnspecifiedMatching OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:IRAIN semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch ncbigene:104472848 semapv:UnspecifiedMatching OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:ZSWIM8 semapv:UnspecifiedMatching OMIM:619213 ZSWIM8 skos:exactMatch ncbigene:23053 semapv:UnspecifiedMatching -OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:ZNF639 semapv:UnspecifiedMatching OMIM:619214 ZNF639 skos:exactMatch ncbigene:51193 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:ZNF639 semapv:UnspecifiedMatching OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:C2orf69 semapv:UnspecifiedMatching OMIM:619219 C2ORF69 skos:exactMatch ncbigene:205327 semapv:UnspecifiedMatching OMIM:619222 SCAI skos:exactMatch hgnc.symbol:SCAI semapv:UnspecifiedMatching @@ -41487,8 +41491,8 @@ OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:RPP25 semapv:UnspecifiedMatching OMIM:619235 RPP25 skos:exactMatch ncbigene:54913 semapv:UnspecifiedMatching OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:KIAA0408 semapv:UnspecifiedMatching OMIM:619236 KIAA0408 skos:exactMatch ncbigene:9729 semapv:UnspecifiedMatching -OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:KIAA0232 semapv:UnspecifiedMatching OMIM:619237 KIAA0232 skos:exactMatch ncbigene:9778 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:KIAA0232 semapv:UnspecifiedMatching OMIM:619240 GDPGP1 skos:exactMatch ncbigene:390637 semapv:UnspecifiedMatching OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:GDPGP1 semapv:UnspecifiedMatching OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:JPT2 semapv:UnspecifiedMatching @@ -41507,8 +41511,8 @@ OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:ACTL9 semapv:UnspecifiedMatching OMIM:619251 ACTL9 skos:exactMatch ncbigene:284382 semapv:UnspecifiedMatching OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:BZW1 semapv:UnspecifiedMatching OMIM:619252 BZW1 skos:exactMatch ncbigene:9689 semapv:UnspecifiedMatching -OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:WSCD2 semapv:UnspecifiedMatching OMIM:619253 WSCD2 skos:exactMatch ncbigene:9671 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:WSCD2 semapv:UnspecifiedMatching OMIM:619254 ZNF17 skos:exactMatch ncbigene:7565 semapv:UnspecifiedMatching OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:ZNF17 semapv:UnspecifiedMatching OMIM:619257 HRURF skos:exactMatch hgnc.symbol:HRURF semapv:UnspecifiedMatching @@ -41529,80 +41533,80 @@ OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:BRME1 semapv:UnspecifiedMatching OMIM:619276 BRME1 skos:exactMatch ncbigene:79173 semapv:UnspecifiedMatching OMIM:619277 C20ORF85 skos:exactMatch hgnc.symbol:C20orf85 semapv:UnspecifiedMatching OMIM:619277 C20ORF85 skos:exactMatch ncbigene:128602 semapv:UnspecifiedMatching -OMIM:619280 CCDC59 skos:exactMatch ncbigene:29080 semapv:UnspecifiedMatching OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:CCDC59 semapv:UnspecifiedMatching -OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:FAM131B semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch ncbigene:29080 semapv:UnspecifiedMatching OMIM:619282 FAM131B skos:exactMatch ncbigene:9715 semapv:UnspecifiedMatching -OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:RNF44 semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:FAM131B semapv:UnspecifiedMatching OMIM:619283 RNF44 skos:exactMatch ncbigene:22838 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:RNF44 semapv:UnspecifiedMatching OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:ZFR2 semapv:UnspecifiedMatching OMIM:619284 ZFR2 skos:exactMatch ncbigene:23217 semapv:UnspecifiedMatching OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:TMEM218 semapv:UnspecifiedMatching OMIM:619285 TMEM218 skos:exactMatch ncbigene:219854 semapv:UnspecifiedMatching -OMIM:619287 CCDC66 skos:exactMatch ncbigene:285331 semapv:UnspecifiedMatching OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:CCDC66 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch ncbigene:285331 semapv:UnspecifiedMatching OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:CCDC69 semapv:UnspecifiedMatching OMIM:619288 CCDC69 skos:exactMatch ncbigene:26112 semapv:UnspecifiedMatching -OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:ZFP91 semapv:UnspecifiedMatching OMIM:619289 ZFP91 skos:exactMatch ncbigene:80829 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:ZFP91 semapv:UnspecifiedMatching OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:VPS9D1 semapv:UnspecifiedMatching OMIM:619292 VPS9D1 skos:exactMatch ncbigene:9605 semapv:UnspecifiedMatching OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:NIBAN1 semapv:UnspecifiedMatching OMIM:619294 NIBAN1 skos:exactMatch ncbigene:116496 semapv:UnspecifiedMatching -OMIM:619295 ZDHHC14 skos:exactMatch ncbigene:79683 semapv:UnspecifiedMatching OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:ZDHHC14 semapv:UnspecifiedMatching -OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:THORLNC semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch ncbigene:79683 semapv:UnspecifiedMatching OMIM:619296 THORLNC skos:exactMatch ncbigene:100506797 semapv:UnspecifiedMatching -OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:ZNF777 semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:THORLNC semapv:UnspecifiedMatching OMIM:619298 ZNF777 skos:exactMatch ncbigene:27153 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:ZNF777 semapv:UnspecifiedMatching OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:ZNF646 semapv:UnspecifiedMatching OMIM:619299 ZNF646 skos:exactMatch ncbigene:9726 semapv:UnspecifiedMatching OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:ZNF394 semapv:UnspecifiedMatching OMIM:619300 ZNF394 skos:exactMatch ncbigene:84124 semapv:UnspecifiedMatching OMIM:619305 TC2N skos:exactMatch hgnc.symbol:TC2N semapv:UnspecifiedMatching OMIM:619305 TC2N skos:exactMatch ncbigene:123036 semapv:UnspecifiedMatching -OMIM:619307 MRS2 skos:exactMatch ncbigene:57380 semapv:UnspecifiedMatching OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:MRS2 semapv:UnspecifiedMatching -OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:PPM1E semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch ncbigene:57380 semapv:UnspecifiedMatching OMIM:619308 PPM1E skos:exactMatch ncbigene:22843 semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:PPM1E semapv:UnspecifiedMatching OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:PPM1F semapv:UnspecifiedMatching OMIM:619309 PPM1F skos:exactMatch ncbigene:9647 semapv:UnspecifiedMatching OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:SLC35E2B semapv:UnspecifiedMatching OMIM:619315 SLC35E2B skos:exactMatch ncbigene:728661 semapv:UnspecifiedMatching OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:TRANK1 semapv:UnspecifiedMatching OMIM:619316 TRANK1 skos:exactMatch ncbigene:9881 semapv:UnspecifiedMatching -OMIM:619327 LRRC15 skos:exactMatch ncbigene:131578 semapv:UnspecifiedMatching OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:LRRC15 semapv:UnspecifiedMatching -OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:TATDN2 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch ncbigene:131578 semapv:UnspecifiedMatching OMIM:619330 TATDN2 skos:exactMatch ncbigene:9797 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:TATDN2 semapv:UnspecifiedMatching OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:MEAK7 semapv:UnspecifiedMatching OMIM:619331 MEAK7 skos:exactMatch ncbigene:57707 semapv:UnspecifiedMatching OMIM:619332 TMEM251 skos:exactMatch hgnc.symbol:LYSET semapv:UnspecifiedMatching OMIM:619332 TMEM251 skos:exactMatch ncbigene:26175 semapv:UnspecifiedMatching OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:GARRE1 semapv:UnspecifiedMatching OMIM:619335 GARRE1 skos:exactMatch ncbigene:9710 semapv:UnspecifiedMatching -OMIM:619336 MTX3 skos:exactMatch ncbigene:345778 semapv:UnspecifiedMatching OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:MTX3 semapv:UnspecifiedMatching -OMIM:619337 NMS skos:exactMatch hgnc.symbol:NMS semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch ncbigene:345778 semapv:UnspecifiedMatching OMIM:619337 NMS skos:exactMatch ncbigene:129521 semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch hgnc.symbol:NMS semapv:UnspecifiedMatching OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:PJA2 semapv:UnspecifiedMatching OMIM:619341 PJA2 skos:exactMatch ncbigene:9867 semapv:UnspecifiedMatching OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:PGAP6 semapv:UnspecifiedMatching OMIM:619342 PGAP6 skos:exactMatch ncbigene:58986 semapv:UnspecifiedMatching OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching -OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CCDC96 semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching +OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CCDC96 semapv:UnspecifiedMatching OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:ANKLE1 semapv:UnspecifiedMatching OMIM:619348 ANKLE1 skos:exactMatch ncbigene:126549 semapv:UnspecifiedMatching OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:COPS9 semapv:UnspecifiedMatching OMIM:619349 COPS9 skos:exactMatch ncbigene:150678 semapv:UnspecifiedMatching OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:PARD3B semapv:UnspecifiedMatching OMIM:619353 PARD3B skos:exactMatch ncbigene:117583 semapv:UnspecifiedMatching -OMIM:619357 AK6 skos:exactMatch ncbigene:102157402 semapv:UnspecifiedMatching OMIM:619357 AK6 skos:exactMatch hgnc.symbol:AK6 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch ncbigene:102157402 semapv:UnspecifiedMatching OMIM:619358 MTUS2 skos:exactMatch ncbigene:23281 semapv:UnspecifiedMatching OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:MTUS2 semapv:UnspecifiedMatching OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:BRINP2 semapv:UnspecifiedMatching @@ -41613,38 +41617,38 @@ OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:LRRC14 semapv:UnspecifiedMatching OMIM:619368 LRRC14 skos:exactMatch ncbigene:9684 semapv:UnspecifiedMatching OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:KHDC4 semapv:UnspecifiedMatching OMIM:619370 KHDC4 skos:exactMatch ncbigene:22889 semapv:UnspecifiedMatching -OMIM:619372 URB2 skos:exactMatch ncbigene:9816 semapv:UnspecifiedMatching OMIM:619372 URB2 skos:exactMatch hgnc.symbol:URB2 semapv:UnspecifiedMatching -OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:SNORA31 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch ncbigene:9816 semapv:UnspecifiedMatching OMIM:619378 SNORA31 skos:exactMatch ncbigene:677814 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:SNORA31 semapv:UnspecifiedMatching OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:ZBTB39 semapv:UnspecifiedMatching OMIM:619384 ZBTB39 skos:exactMatch ncbigene:9880 semapv:UnspecifiedMatching OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:ZNF510 semapv:UnspecifiedMatching OMIM:619385 ZNF510 skos:exactMatch ncbigene:22869 semapv:UnspecifiedMatching -OMIM:619387 CATIP skos:exactMatch ncbigene:375307 semapv:UnspecifiedMatching OMIM:619387 CATIP skos:exactMatch hgnc.symbol:CATIP semapv:UnspecifiedMatching -OMIM:619388 TTC17 skos:exactMatch ncbigene:55761 semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch ncbigene:375307 semapv:UnspecifiedMatching OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:TTC17 semapv:UnspecifiedMatching -OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:COL20A1 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch ncbigene:55761 semapv:UnspecifiedMatching OMIM:619390 COL20A1 skos:exactMatch ncbigene:57642 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:COL20A1 semapv:UnspecifiedMatching OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:CCDC157 semapv:UnspecifiedMatching OMIM:619391 CCDC157 skos:exactMatch ncbigene:550631 semapv:UnspecifiedMatching OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:C14orf180 semapv:UnspecifiedMatching OMIM:619392 C14ORF180 skos:exactMatch ncbigene:400258 semapv:UnspecifiedMatching OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:KBTBD2 semapv:UnspecifiedMatching OMIM:619393 KBTBD2 skos:exactMatch ncbigene:25948 semapv:UnspecifiedMatching -OMIM:619394 CBR4 skos:exactMatch ncbigene:84869 semapv:UnspecifiedMatching OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:CBR4 semapv:UnspecifiedMatching -OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:MYEF2 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch ncbigene:84869 semapv:UnspecifiedMatching OMIM:619395 MYEF2 skos:exactMatch ncbigene:50804 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:MYEF2 semapv:UnspecifiedMatching OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:ZFPL1 semapv:UnspecifiedMatching OMIM:619397 ZFPL1 skos:exactMatch ncbigene:7542 semapv:UnspecifiedMatching OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:TSPAN18 semapv:UnspecifiedMatching OMIM:619399 TSPAN18 skos:exactMatch ncbigene:90139 semapv:UnspecifiedMatching OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:CCAT2 semapv:UnspecifiedMatching OMIM:619403 CCAT2 skos:exactMatch ncbigene:101805488 semapv:UnspecifiedMatching -OMIM:619404 TRMT61B skos:exactMatch ncbigene:55006 semapv:UnspecifiedMatching OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:TRMT61B semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch ncbigene:55006 semapv:UnspecifiedMatching OMIM:619408 TRIM65 skos:exactMatch ncbigene:201292 semapv:UnspecifiedMatching OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:TRIM65 semapv:UnspecifiedMatching OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:TSPO2 semapv:UnspecifiedMatching @@ -41655,8 +41659,8 @@ OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:SPCS2 semapv:UnspecifiedMatching OMIM:619411 SPCS2 skos:exactMatch ncbigene:9789 semapv:UnspecifiedMatching OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:SEC14L5 semapv:UnspecifiedMatching OMIM:619412 SEC14L5 skos:exactMatch ncbigene:9717 semapv:UnspecifiedMatching -OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:CCDC144A semapv:UnspecifiedMatching OMIM:619413 CCDC144A skos:exactMatch ncbigene:9720 semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:CCDC144A semapv:UnspecifiedMatching OMIM:619414 MTFR1 skos:exactMatch ncbigene:9650 semapv:UnspecifiedMatching OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:MTFR1 semapv:UnspecifiedMatching OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:TTBK1 semapv:UnspecifiedMatching @@ -41675,8 +41679,8 @@ OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:TMCC2 semapv:UnspecifiedMatching OMIM:619429 TMCC2 skos:exactMatch ncbigene:9911 semapv:UnspecifiedMatching OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:SPINT4 semapv:UnspecifiedMatching OMIM:619430 SPINT4 skos:exactMatch ncbigene:391253 semapv:UnspecifiedMatching -OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:NAA11 semapv:UnspecifiedMatching OMIM:619432 NAA11 skos:exactMatch ncbigene:84779 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:NAA11 semapv:UnspecifiedMatching OMIM:619434 SUCO skos:exactMatch ncbigene:51430 semapv:UnspecifiedMatching OMIM:619434 SUCO skos:exactMatch hgnc.symbol:SUCO semapv:UnspecifiedMatching OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:NAA35 semapv:UnspecifiedMatching @@ -41685,8 +41689,8 @@ OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:PARP6 semapv:UnspecifiedMatching OMIM:619439 PARP6 skos:exactMatch ncbigene:56965 semapv:UnspecifiedMatching OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:QSER1 semapv:UnspecifiedMatching OMIM:619440 QSER1 skos:exactMatch ncbigene:79832 semapv:UnspecifiedMatching -OMIM:619442 TULP4 skos:exactMatch ncbigene:56995 semapv:UnspecifiedMatching OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:TULP4 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch ncbigene:56995 semapv:UnspecifiedMatching OMIM:619443 MEIS3 skos:exactMatch ncbigene:56917 semapv:UnspecifiedMatching OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:MEIS3 semapv:UnspecifiedMatching OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:CCDC7 semapv:UnspecifiedMatching @@ -41697,112 +41701,112 @@ OMIM:619448 SRARP skos:exactMatch hgnc.symbol:SRARP semapv:UnspecifiedMatching OMIM:619448 SRARP skos:exactMatch ncbigene:149563 semapv:UnspecifiedMatching OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:RRP7A semapv:UnspecifiedMatching OMIM:619449 RRP7A skos:exactMatch ncbigene:27341 semapv:UnspecifiedMatching -OMIM:619450 MIR874 skos:exactMatch ncbigene:100126343 semapv:UnspecifiedMatching OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:MIR874 semapv:UnspecifiedMatching -OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:RNF144A semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch ncbigene:100126343 semapv:UnspecifiedMatching OMIM:619454 RNF144A skos:exactMatch ncbigene:9781 semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:RNF144A semapv:UnspecifiedMatching OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:SH3PXD2A semapv:UnspecifiedMatching OMIM:619455 SH3PXD2A skos:exactMatch ncbigene:9644 semapv:UnspecifiedMatching OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:CDC42SE1 semapv:UnspecifiedMatching OMIM:619456 CDC42SE1 skos:exactMatch ncbigene:56882 semapv:UnspecifiedMatching OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:CDC42SE2 semapv:UnspecifiedMatching OMIM:619457 CDC42SE2 skos:exactMatch ncbigene:56990 semapv:UnspecifiedMatching -OMIM:619458 MBD6 skos:exactMatch ncbigene:114785 semapv:UnspecifiedMatching OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:MBD6 semapv:UnspecifiedMatching -OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:ZZEF1 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch ncbigene:114785 semapv:UnspecifiedMatching OMIM:619459 ZZEF1 skos:exactMatch ncbigene:23140 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:ZZEF1 semapv:UnspecifiedMatching OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:TMEM222 semapv:UnspecifiedMatching OMIM:619469 TMEM222 skos:exactMatch ncbigene:84065 semapv:UnspecifiedMatching OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:R3HDM1 semapv:UnspecifiedMatching OMIM:619474 R3HDM1 skos:exactMatch ncbigene:23518 semapv:UnspecifiedMatching -OMIM:619485 PAPPA2 skos:exactMatch ncbigene:60676 semapv:UnspecifiedMatching OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:PAPPA2 semapv:UnspecifiedMatching -OMIM:619490 LMBRD2 skos:exactMatch ncbigene:92255 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch ncbigene:60676 semapv:UnspecifiedMatching OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:LMBRD2 semapv:UnspecifiedMatching -OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:SNHG11 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch ncbigene:92255 semapv:UnspecifiedMatching OMIM:619494 SNHG11 skos:exactMatch ncbigene:128439 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:SNHG11 semapv:UnspecifiedMatching OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:ADAM18 semapv:UnspecifiedMatching OMIM:619495 ADAM18 skos:exactMatch ncbigene:8749 semapv:UnspecifiedMatching OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:ZNF358 semapv:UnspecifiedMatching OMIM:619496 ZNF358 skos:exactMatch ncbigene:140467 semapv:UnspecifiedMatching -OMIM:619497 NAA16 skos:exactMatch ncbigene:79612 semapv:UnspecifiedMatching OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:NAA16 semapv:UnspecifiedMatching -OMIM:619498 ZC3H4 skos:exactMatch ncbigene:23211 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch ncbigene:79612 semapv:UnspecifiedMatching OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:ZC3H4 semapv:UnspecifiedMatching -OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:ZNF383 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch ncbigene:23211 semapv:UnspecifiedMatching OMIM:619499 ZNF383 skos:exactMatch ncbigene:163087 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:ZNF383 semapv:UnspecifiedMatching OMIM:619502 C9ORF24 skos:exactMatch hgnc.symbol:C9orf24 semapv:UnspecifiedMatching OMIM:619502 C9ORF24 skos:exactMatch ncbigene:84688 semapv:UnspecifiedMatching OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:ZNF431 semapv:UnspecifiedMatching OMIM:619505 ZNF431 skos:exactMatch ncbigene:170959 semapv:UnspecifiedMatching OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:ZNF415 semapv:UnspecifiedMatching OMIM:619506 ZNF415 skos:exactMatch ncbigene:55786 semapv:UnspecifiedMatching -OMIM:619507 ZNF425 skos:exactMatch ncbigene:155054 semapv:UnspecifiedMatching OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:ZNF425 semapv:UnspecifiedMatching -OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:ZNF445 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch ncbigene:155054 semapv:UnspecifiedMatching OMIM:619508 ZNF445 skos:exactMatch ncbigene:353274 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:ZNF445 semapv:UnspecifiedMatching OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:ZNF418 semapv:UnspecifiedMatching OMIM:619509 ZNF418 skos:exactMatch ncbigene:147686 semapv:UnspecifiedMatching OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:ZNF354C semapv:UnspecifiedMatching OMIM:619511 ZNF354C skos:exactMatch ncbigene:30832 semapv:UnspecifiedMatching -OMIM:619513 SWT1 skos:exactMatch ncbigene:54823 semapv:UnspecifiedMatching OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:SWT1 semapv:UnspecifiedMatching -OMIM:619514 SHCBP1L skos:exactMatch ncbigene:81626 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch ncbigene:54823 semapv:UnspecifiedMatching OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:SHCBP1L semapv:UnspecifiedMatching -OMIM:619516 BFAR skos:exactMatch hgnc.symbol:BFAR semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch ncbigene:81626 semapv:UnspecifiedMatching OMIM:619516 BFAR skos:exactMatch ncbigene:51283 semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch hgnc.symbol:BFAR semapv:UnspecifiedMatching OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:ZNF764 semapv:UnspecifiedMatching OMIM:619524 ZNF764 skos:exactMatch ncbigene:92595 semapv:UnspecifiedMatching OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:ZNF706 semapv:UnspecifiedMatching OMIM:619526 ZNF706 skos:exactMatch ncbigene:51123 semapv:UnspecifiedMatching OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:PNLDC1 semapv:UnspecifiedMatching OMIM:619529 PNLDC1 skos:exactMatch ncbigene:154197 semapv:UnspecifiedMatching -OMIM:619530 SLC35C2 skos:exactMatch ncbigene:51006 semapv:UnspecifiedMatching OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:SLC35C2 semapv:UnspecifiedMatching -OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:ADAD2 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch ncbigene:51006 semapv:UnspecifiedMatching OMIM:619532 ADAD2 skos:exactMatch ncbigene:161931 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:ADAD2 semapv:UnspecifiedMatching OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:RAD21L1 semapv:UnspecifiedMatching OMIM:619533 RAD21L1 skos:exactMatch ncbigene:642636 semapv:UnspecifiedMatching OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:RNF115 semapv:UnspecifiedMatching OMIM:619535 RNF115 skos:exactMatch ncbigene:27246 semapv:UnspecifiedMatching OMIM:619536 USP31 skos:exactMatch hgnc.symbol:USP31 semapv:UnspecifiedMatching OMIM:619536 USP31 skos:exactMatch ncbigene:57478 semapv:UnspecifiedMatching -OMIM:619537 ANGEL1 skos:exactMatch ncbigene:23357 semapv:UnspecifiedMatching OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:ANGEL1 semapv:UnspecifiedMatching -OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:PPP1R3E semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch ncbigene:23357 semapv:UnspecifiedMatching OMIM:619540 PPP1R3E skos:exactMatch ncbigene:90673 semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:PPP1R3E semapv:UnspecifiedMatching OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:PPP1R3G semapv:UnspecifiedMatching OMIM:619541 PPP1R3G skos:exactMatch ncbigene:648791 semapv:UnspecifiedMatching OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:PRRC2B semapv:UnspecifiedMatching OMIM:619544 PRRC2B skos:exactMatch ncbigene:84726 semapv:UnspecifiedMatching OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:OR10J5 semapv:UnspecifiedMatching OMIM:619546 OR10J5 skos:exactMatch ncbigene:127385 semapv:UnspecifiedMatching -OMIM:619547 RAB15 skos:exactMatch ncbigene:376267 semapv:UnspecifiedMatching OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:RAB15 semapv:UnspecifiedMatching -OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:RAB40B semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch ncbigene:376267 semapv:UnspecifiedMatching OMIM:619550 RAB40B skos:exactMatch ncbigene:10966 semapv:UnspecifiedMatching -OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:RAB40C semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:RAB40B semapv:UnspecifiedMatching OMIM:619551 RAB40C skos:exactMatch ncbigene:57799 semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:RAB40C semapv:UnspecifiedMatching OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:MAGOHB semapv:UnspecifiedMatching OMIM:619552 MAGOHB skos:exactMatch ncbigene:55110 semapv:UnspecifiedMatching OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:MTIF3 semapv:UnspecifiedMatching OMIM:619554 MTIF3 skos:exactMatch ncbigene:219402 semapv:UnspecifiedMatching -OMIM:619558 RAB39A skos:exactMatch ncbigene:54734 semapv:UnspecifiedMatching OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:RAB39A semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch ncbigene:54734 semapv:UnspecifiedMatching OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:EFCAB14 semapv:UnspecifiedMatching OMIM:619559 EFCAB14 skos:exactMatch ncbigene:9813 semapv:UnspecifiedMatching -OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:MIR135B semapv:UnspecifiedMatching OMIM:619560 MIR135B skos:exactMatch ncbigene:442891 semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:MIR135B semapv:UnspecifiedMatching OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:MICALL1 semapv:UnspecifiedMatching OMIM:619563 MICALL1 skos:exactMatch ncbigene:85377 semapv:UnspecifiedMatching OMIM:619564 EFCAB1 skos:exactMatch hgnc.symbol:CLXN semapv:UnspecifiedMatching OMIM:619564 EFCAB1 skos:exactMatch ncbigene:79645 semapv:UnspecifiedMatching -OMIM:619567 EFCAB3 skos:exactMatch ncbigene:146779 semapv:UnspecifiedMatching OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:EFCAB3 semapv:UnspecifiedMatching -OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:ENDOD1 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch ncbigene:146779 semapv:UnspecifiedMatching OMIM:619568 ENDOD1 skos:exactMatch ncbigene:23052 semapv:UnspecifiedMatching -OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:C9orf78 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:ENDOD1 semapv:UnspecifiedMatching OMIM:619569 C9ORF78 skos:exactMatch ncbigene:51759 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:C9orf78 semapv:UnspecifiedMatching OMIM:619570 UHRF1BP1 skos:exactMatch hgnc.symbol:BLTP3A semapv:UnspecifiedMatching OMIM:619570 UHRF1BP1 skos:exactMatch ncbigene:54887 semapv:UnspecifiedMatching OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:ANKRD49 semapv:UnspecifiedMatching @@ -41812,7 +41816,7 @@ OMIM:619572 MIR15B skos:exactMatch ncbigene:406949 semapv:UnspecifiedMatching OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:ZGPAT semapv:UnspecifiedMatching OMIM:619577 ZGPAT skos:exactMatch ncbigene:84619 semapv:UnspecifiedMatching OMIM:619578 SPATA5L1 skos:exactMatch ncbigene:79029 semapv:UnspecifiedMatching -OMIM:619578 SPATA5L1 skos:exactMatch hgnc.symbol:SPATA5L1 semapv:UnspecifiedMatching +OMIM:619578 SPATA5L1 skos:exactMatch hgnc.symbol:AFG2B semapv:UnspecifiedMatching OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:KHNYN semapv:UnspecifiedMatching OMIM:619579 KHNYN skos:exactMatch ncbigene:23351 semapv:UnspecifiedMatching OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:SLC45A4 semapv:UnspecifiedMatching @@ -41861,80 +41865,80 @@ OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:LMTK3 semapv:UnspecifiedMatching OMIM:619624 LMTK3 skos:exactMatch ncbigene:114783 semapv:UnspecifiedMatching OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:C11orf58 semapv:UnspecifiedMatching OMIM:619625 C11ORF58 skos:exactMatch ncbigene:10944 semapv:UnspecifiedMatching -OMIM:619626 METTL4 skos:exactMatch ncbigene:64863 semapv:UnspecifiedMatching OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:METTL4 semapv:UnspecifiedMatching -OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:HEATR5B semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch ncbigene:64863 semapv:UnspecifiedMatching OMIM:619627 HEATR5B skos:exactMatch ncbigene:54497 semapv:UnspecifiedMatching -OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:AFTPH semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:HEATR5B semapv:UnspecifiedMatching OMIM:619628 AFTPH skos:exactMatch ncbigene:54812 semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:AFTPH semapv:UnspecifiedMatching OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:SNRNP27 semapv:UnspecifiedMatching OMIM:619629 SNRNP27 skos:exactMatch ncbigene:11017 semapv:UnspecifiedMatching OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:SNRNP35 semapv:UnspecifiedMatching OMIM:619631 SNRNP35 skos:exactMatch ncbigene:11066 semapv:UnspecifiedMatching -OMIM:619633 OCIAD2 skos:exactMatch ncbigene:132299 semapv:UnspecifiedMatching OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:OCIAD2 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch ncbigene:132299 semapv:UnspecifiedMatching OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:OSGEPL1 semapv:UnspecifiedMatching OMIM:619634 OSGEPL1 skos:exactMatch ncbigene:64172 semapv:UnspecifiedMatching -OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:ZFYVE19 semapv:UnspecifiedMatching OMIM:619635 ZFYVE19 skos:exactMatch ncbigene:84936 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:ZFYVE19 semapv:UnspecifiedMatching OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:KDM7A semapv:UnspecifiedMatching OMIM:619640 KDM7A skos:exactMatch ncbigene:80853 semapv:UnspecifiedMatching OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:TMED2 semapv:UnspecifiedMatching OMIM:619642 TMED2 skos:exactMatch ncbigene:10959 semapv:UnspecifiedMatching -OMIM:619650 VHLL skos:exactMatch ncbigene:391104 semapv:UnspecifiedMatching OMIM:619650 VHLL skos:exactMatch hgnc.symbol:VHLL semapv:UnspecifiedMatching -OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:C3orf33 semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch ncbigene:391104 semapv:UnspecifiedMatching OMIM:619654 C3ORF33 skos:exactMatch ncbigene:285315 semapv:UnspecifiedMatching -OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:RPL10L semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:C3orf33 semapv:UnspecifiedMatching OMIM:619655 RPL10L skos:exactMatch ncbigene:140801 semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:RPL10L semapv:UnspecifiedMatching OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:SNAP47 semapv:UnspecifiedMatching OMIM:619659 SNAP47 skos:exactMatch ncbigene:116841 semapv:UnspecifiedMatching OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:BCL2L15 semapv:UnspecifiedMatching OMIM:619660 BCL2L15 skos:exactMatch ncbigene:440603 semapv:UnspecifiedMatching OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:UTP25 semapv:UnspecifiedMatching OMIM:619663 UTP25 skos:exactMatch ncbigene:27042 semapv:UnspecifiedMatching -OMIM:619664 EFCAB6 skos:exactMatch ncbigene:64800 semapv:UnspecifiedMatching OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:EFCAB6 semapv:UnspecifiedMatching -OMIM:619666 VILL skos:exactMatch hgnc.symbol:VILL semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch ncbigene:64800 semapv:UnspecifiedMatching OMIM:619666 VILL skos:exactMatch ncbigene:50853 semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch hgnc.symbol:VILL semapv:UnspecifiedMatching OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:SLC35F6 semapv:UnspecifiedMatching OMIM:619667 SLC35F6 skos:exactMatch ncbigene:54978 semapv:UnspecifiedMatching OMIM:619668 DERA skos:exactMatch hgnc.symbol:DERA semapv:UnspecifiedMatching OMIM:619668 DERA skos:exactMatch ncbigene:51071 semapv:UnspecifiedMatching OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:PIERCE2 semapv:UnspecifiedMatching OMIM:619669 PIERCE2 skos:exactMatch ncbigene:145788 semapv:UnspecifiedMatching -OMIM:619670 ALKAL1 skos:exactMatch ncbigene:389658 semapv:UnspecifiedMatching OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:ALKAL1 semapv:UnspecifiedMatching -OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:ALKAL2 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch ncbigene:389658 semapv:UnspecifiedMatching OMIM:619671 ALKAL2 skos:exactMatch ncbigene:285016 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:ALKAL2 semapv:UnspecifiedMatching OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:PRADC1 semapv:UnspecifiedMatching OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:TEX37 semapv:UnspecifiedMatching OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching -OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching -OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:C22orf23 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching OMIM:619678 C22ORF23 skos:exactMatch ncbigene:84645 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:C22orf23 semapv:UnspecifiedMatching OMIM:619679 TSACC skos:exactMatch hgnc.symbol:TSACC semapv:UnspecifiedMatching OMIM:619679 TSACC skos:exactMatch ncbigene:128229 semapv:UnspecifiedMatching OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:ATRAID semapv:UnspecifiedMatching OMIM:619682 ATRAID skos:exactMatch ncbigene:51374 semapv:UnspecifiedMatching OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:BSPRY semapv:UnspecifiedMatching OMIM:619683 BSPRY skos:exactMatch ncbigene:54836 semapv:UnspecifiedMatching -OMIM:619684 MGARP skos:exactMatch ncbigene:84709 semapv:UnspecifiedMatching OMIM:619684 MGARP skos:exactMatch hgnc.symbol:MGARP semapv:UnspecifiedMatching -OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:C1orf127 semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch ncbigene:84709 semapv:UnspecifiedMatching OMIM:619700 C1ORF127 skos:exactMatch ncbigene:148345 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:C1orf127 semapv:UnspecifiedMatching OMIM:619703 CIROP skos:exactMatch hgnc.symbol:CIROP semapv:UnspecifiedMatching OMIM:619703 CIROP skos:exactMatch ncbigene:100128908 semapv:UnspecifiedMatching OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:ZC3H15 semapv:UnspecifiedMatching OMIM:619704 ZC3H15 skos:exactMatch ncbigene:55854 semapv:UnspecifiedMatching OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:LRRN4 semapv:UnspecifiedMatching OMIM:619706 LRRN4 skos:exactMatch ncbigene:164312 semapv:UnspecifiedMatching -OMIM:619709 KIAA0930 skos:exactMatch ncbigene:23313 semapv:UnspecifiedMatching OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:KIAA0930 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch ncbigene:23313 semapv:UnspecifiedMatching OMIM:619710 HAPLN4 skos:exactMatch ncbigene:404037 semapv:UnspecifiedMatching OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:HAPLN4 semapv:UnspecifiedMatching OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:C19orf33 semapv:UnspecifiedMatching @@ -41945,38 +41949,38 @@ OMIM:619715 WIZ skos:exactMatch hgnc.symbol:WIZ semapv:UnspecifiedMatching OMIM:619715 WIZ skos:exactMatch ncbigene:58525 semapv:UnspecifiedMatching OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:ACTR8 semapv:UnspecifiedMatching OMIM:619716 ACTR8 skos:exactMatch ncbigene:93973 semapv:UnspecifiedMatching -OMIM:619722 TMEM53 skos:exactMatch ncbigene:79639 semapv:UnspecifiedMatching OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:TMEM53 semapv:UnspecifiedMatching -OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:SCPEP1 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch ncbigene:79639 semapv:UnspecifiedMatching OMIM:619723 SCPEP1 skos:exactMatch ncbigene:59342 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:SCPEP1 semapv:UnspecifiedMatching OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:HAPLN2 semapv:UnspecifiedMatching OMIM:619726 HAPLN2 skos:exactMatch ncbigene:60484 semapv:UnspecifiedMatching OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:ABHD4 semapv:UnspecifiedMatching OMIM:619728 ABHD4 skos:exactMatch ncbigene:63874 semapv:UnspecifiedMatching -OMIM:619729 ACTR6 skos:exactMatch ncbigene:64431 semapv:UnspecifiedMatching OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:ACTR6 semapv:UnspecifiedMatching -OMIM:619730 ACTR5 skos:exactMatch ncbigene:79913 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch ncbigene:64431 semapv:UnspecifiedMatching OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:ACTR5 semapv:UnspecifiedMatching -OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:ACTR10 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch ncbigene:79913 semapv:UnspecifiedMatching OMIM:619731 ACTR10 skos:exactMatch ncbigene:55860 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:ACTR10 semapv:UnspecifiedMatching OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:PXYLP1 semapv:UnspecifiedMatching OMIM:619732 PXYLP1 skos:exactMatch ncbigene:92370 semapv:UnspecifiedMatching OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:EPDR1 semapv:UnspecifiedMatching OMIM:619734 EPDR1 skos:exactMatch ncbigene:54749 semapv:UnspecifiedMatching OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:ASNSD1 semapv:UnspecifiedMatching OMIM:619739 ASNSD1 skos:exactMatch ncbigene:54529 semapv:UnspecifiedMatching -OMIM:619740 ASDURF skos:exactMatch ncbigene:110599588 semapv:UnspecifiedMatching OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:ASDURF semapv:UnspecifiedMatching -OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:ZMAT5 semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch ncbigene:110599588 semapv:UnspecifiedMatching OMIM:619741 ZMAT5 skos:exactMatch ncbigene:55954 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:ZMAT5 semapv:UnspecifiedMatching OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:ZCCHC17 semapv:UnspecifiedMatching OMIM:619744 ZCCHC17 skos:exactMatch ncbigene:51538 semapv:UnspecifiedMatching OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:ZC3HC1 semapv:UnspecifiedMatching OMIM:619746 ZC3HC1 skos:exactMatch ncbigene:51530 semapv:UnspecifiedMatching OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:LRRN3 semapv:UnspecifiedMatching OMIM:619748 LRRN3 skos:exactMatch ncbigene:54674 semapv:UnspecifiedMatching -OMIM:619749 VEZT skos:exactMatch ncbigene:55591 semapv:UnspecifiedMatching OMIM:619749 VEZT skos:exactMatch hgnc.symbol:VEZT semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch ncbigene:55591 semapv:UnspecifiedMatching OMIM:619753 PYM1 skos:exactMatch ncbigene:84305 semapv:UnspecifiedMatching OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:PYM1 semapv:UnspecifiedMatching OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:YIPF7 semapv:UnspecifiedMatching @@ -41989,18 +41993,18 @@ OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:ATP23 semapv:UnspecifiedMatching OMIM:619760 ATP23 skos:exactMatch ncbigene:91419 semapv:UnspecifiedMatching OMIM:619763 WDTC1 skos:exactMatch ncbigene:23038 semapv:UnspecifiedMatching OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:WDTC1 semapv:UnspecifiedMatching -OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:CRYBG2 semapv:UnspecifiedMatching OMIM:619765 CRYBG2 skos:exactMatch ncbigene:55057 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:CRYBG2 semapv:UnspecifiedMatching OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:YLPM1 semapv:UnspecifiedMatching OMIM:619766 YLPM1 skos:exactMatch ncbigene:56252 semapv:UnspecifiedMatching OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:ARRDC1 semapv:UnspecifiedMatching OMIM:619768 ARRDC1 skos:exactMatch ncbigene:92714 semapv:UnspecifiedMatching OMIM:619770 YDJC skos:exactMatch hgnc.symbol:YDJC semapv:UnspecifiedMatching OMIM:619770 YDJC skos:exactMatch ncbigene:150223 semapv:UnspecifiedMatching -OMIM:619771 VRK3 skos:exactMatch ncbigene:51231 semapv:UnspecifiedMatching OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:VRK3 semapv:UnspecifiedMatching -OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:PAAF1 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch ncbigene:51231 semapv:UnspecifiedMatching OMIM:619772 PAAF1 skos:exactMatch ncbigene:80227 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:PAAF1 semapv:UnspecifiedMatching OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:C2CD6 semapv:UnspecifiedMatching OMIM:619776 C2CD6 skos:exactMatch ncbigene:151254 semapv:UnspecifiedMatching OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:ANKRD42 semapv:UnspecifiedMatching @@ -42009,8 +42013,8 @@ OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:AFAP1-AS1 semapv:UnspecifiedMat OMIM:619779 AFAP1AS1 skos:exactMatch ncbigene:84740 semapv:UnspecifiedMatching OMIM:619782 SPACDR skos:exactMatch ncbigene:402573 semapv:UnspecifiedMatching OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:SPACDR semapv:UnspecifiedMatching -OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:ARRDC4 semapv:UnspecifiedMatching OMIM:619788 ARRDC4 skos:exactMatch ncbigene:91947 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:ARRDC4 semapv:UnspecifiedMatching OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:ATP10B semapv:UnspecifiedMatching OMIM:619791 ATP10B skos:exactMatch ncbigene:23120 semapv:UnspecifiedMatching OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:ATP5MF semapv:UnspecifiedMatching @@ -42029,38 +42033,38 @@ OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:MYBPHL semapv:UnspecifiedMatching OMIM:619807 MYBPHL skos:exactMatch ncbigene:343263 semapv:UnspecifiedMatching OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:UGT2A2 semapv:UnspecifiedMatching OMIM:619809 UGT2A2 skos:exactMatch ncbigene:574537 semapv:UnspecifiedMatching -OMIM:619811 UHRF1BP1L skos:exactMatch ncbigene:23074 semapv:UnspecifiedMatching OMIM:619811 UHRF1BP1L skos:exactMatch hgnc.symbol:BLTP3B semapv:UnspecifiedMatching -OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:ATP10D semapv:UnspecifiedMatching +OMIM:619811 UHRF1BP1L skos:exactMatch ncbigene:23074 semapv:UnspecifiedMatching OMIM:619815 ATP10D skos:exactMatch ncbigene:57205 semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:ATP10D semapv:UnspecifiedMatching OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:ELOF1 semapv:UnspecifiedMatching OMIM:619818 ELOF1 skos:exactMatch ncbigene:84337 semapv:UnspecifiedMatching OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:ZC3H7A semapv:UnspecifiedMatching OMIM:619819 ZC3H7A skos:exactMatch ncbigene:29066 semapv:UnspecifiedMatching OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:ATOH8 semapv:UnspecifiedMatching OMIM:619820 ATOH8 skos:exactMatch ncbigene:84913 semapv:UnspecifiedMatching -OMIM:619821 ENDOV skos:exactMatch ncbigene:284131 semapv:UnspecifiedMatching OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:ENDOV semapv:UnspecifiedMatching -OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:BCL2L13 semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch ncbigene:284131 semapv:UnspecifiedMatching OMIM:619822 BCL2L13 skos:exactMatch ncbigene:23786 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:BCL2L13 semapv:UnspecifiedMatching OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:ANP32B semapv:UnspecifiedMatching OMIM:619823 ANP32B skos:exactMatch ncbigene:10541 semapv:UnspecifiedMatching OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:CCDC146 semapv:UnspecifiedMatching OMIM:619829 CCDC146 skos:exactMatch ncbigene:57639 semapv:UnspecifiedMatching OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:DBX1 semapv:UnspecifiedMatching OMIM:619830 DBX1 skos:exactMatch ncbigene:120237 semapv:UnspecifiedMatching -OMIM:619837 MORN5 skos:exactMatch ncbigene:254956 semapv:UnspecifiedMatching OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:MORN5 semapv:UnspecifiedMatching -OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:TTLL9 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch ncbigene:254956 semapv:UnspecifiedMatching OMIM:619838 TTLL9 skos:exactMatch ncbigene:164395 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:TTLL9 semapv:UnspecifiedMatching OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:SNX31 semapv:UnspecifiedMatching OMIM:619839 SNX31 skos:exactMatch ncbigene:169166 semapv:UnspecifiedMatching OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:RIPOR1 semapv:UnspecifiedMatching OMIM:619842 RIPOR1 skos:exactMatch ncbigene:79567 semapv:UnspecifiedMatching OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:DENND4B semapv:UnspecifiedMatching OMIM:619843 DENND4B skos:exactMatch ncbigene:9909 semapv:UnspecifiedMatching -OMIM:619848 TBCCD1 skos:exactMatch ncbigene:55171 semapv:UnspecifiedMatching OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:TBCCD1 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch ncbigene:55171 semapv:UnspecifiedMatching OMIM:619850 A3GALT2 skos:exactMatch ncbigene:127550 semapv:UnspecifiedMatching OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:A3GALT2 semapv:UnspecifiedMatching OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:GARIN4 semapv:UnspecifiedMatching @@ -42071,30 +42075,30 @@ OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:ANKRD50 semapv:UnspecifiedMatchi OMIM:619856 ANKRD50 skos:exactMatch ncbigene:57182 semapv:UnspecifiedMatching OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:SPATA3 semapv:UnspecifiedMatching OMIM:619857 SPATA3 skos:exactMatch ncbigene:130560 semapv:UnspecifiedMatching -OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:DCST1 semapv:UnspecifiedMatching OMIM:619860 DCST1 skos:exactMatch ncbigene:149095 semapv:UnspecifiedMatching -OMIM:619861 DCST2 skos:exactMatch ncbigene:127579 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:DCST1 semapv:UnspecifiedMatching OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:DCST2 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch ncbigene:127579 semapv:UnspecifiedMatching OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:JPH4 semapv:UnspecifiedMatching OMIM:619863 JPH4 skos:exactMatch ncbigene:84502 semapv:UnspecifiedMatching OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:TMEM14B semapv:UnspecifiedMatching OMIM:619865 TMEM14B skos:exactMatch ncbigene:81853 semapv:UnspecifiedMatching OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:CFAP97D1 semapv:UnspecifiedMatching OMIM:619866 CFAP97D1 skos:exactMatch ncbigene:284067 semapv:UnspecifiedMatching -OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:CCDC82 semapv:UnspecifiedMatching OMIM:619870 CCDC82 skos:exactMatch ncbigene:79780 semapv:UnspecifiedMatching -OMIM:619875 SLCO1B7 skos:exactMatch ncbigene:338821 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:CCDC82 semapv:UnspecifiedMatching OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:SLCO1B7 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch ncbigene:338821 semapv:UnspecifiedMatching OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:TYW5 semapv:UnspecifiedMatching OMIM:619882 TYW5 skos:exactMatch ncbigene:129450 semapv:UnspecifiedMatching OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:GARIN3 semapv:UnspecifiedMatching OMIM:619883 GARIN3 skos:exactMatch ncbigene:153745 semapv:UnspecifiedMatching OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:TTC39A semapv:UnspecifiedMatching OMIM:619885 TTC39A skos:exactMatch ncbigene:22996 semapv:UnspecifiedMatching -OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:R3HDM2 semapv:UnspecifiedMatching OMIM:619886 R3HDM2 skos:exactMatch ncbigene:22864 semapv:UnspecifiedMatching -OMIM:619888 GHET1 skos:exactMatch ncbigene:102723099 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:R3HDM2 semapv:UnspecifiedMatching OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:GHET1 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch ncbigene:102723099 semapv:UnspecifiedMatching OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:TCP11L2 semapv:UnspecifiedMatching OMIM:619889 TCP11L2 skos:exactMatch ncbigene:255394 semapv:UnspecifiedMatching OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:GARIN5A semapv:UnspecifiedMatching @@ -42103,16 +42107,16 @@ OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:WDR93 semapv:UnspecifiedMatching OMIM:619891 WDR93 skos:exactMatch ncbigene:56964 semapv:UnspecifiedMatching OMIM:619892 ZZZ3 skos:exactMatch ncbigene:26009 semapv:UnspecifiedMatching OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:ZZZ3 semapv:UnspecifiedMatching -OMIM:619893 KLHL25 skos:exactMatch ncbigene:64410 semapv:UnspecifiedMatching OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:KLHL25 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch ncbigene:64410 semapv:UnspecifiedMatching OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:ABHD15 semapv:UnspecifiedMatching OMIM:619894 ABHD15 skos:exactMatch ncbigene:116236 semapv:UnspecifiedMatching OMIM:619896 MATCAP2 skos:exactMatch hgnc.symbol:MATCAP2 semapv:UnspecifiedMatching OMIM:619896 MATCAP2 skos:exactMatch ncbigene:23366 semapv:UnspecifiedMatching OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:GARIN2 semapv:UnspecifiedMatching OMIM:619898 GARIN2 skos:exactMatch ncbigene:161142 semapv:UnspecifiedMatching -OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:NALF1 semapv:UnspecifiedMatching OMIM:619899 NALF1 skos:exactMatch ncbigene:728215 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:NALF1 semapv:UnspecifiedMatching OMIM:619900 KDELR3 skos:exactMatch ncbigene:11015 semapv:UnspecifiedMatching OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:KDELR3 semapv:UnspecifiedMatching OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:EIF1 semapv:UnspecifiedMatching @@ -42141,8 +42145,8 @@ OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:ARHGEF38 semapv:UnspecifiedMatc OMIM:619919 ARHGEF38 skos:exactMatch ncbigene:54848 semapv:UnspecifiedMatching OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:ANKDD1B semapv:UnspecifiedMatching OMIM:619920 ANKDD1B skos:exactMatch ncbigene:728780 semapv:UnspecifiedMatching -OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:KLHL18 semapv:UnspecifiedMatching @@ -42153,30 +42157,30 @@ OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:TEX2 semapv:UnspecifiedMatching OMIM:619929 TEX2 skos:exactMatch ncbigene:55852 semapv:UnspecifiedMatching OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:ZMAT2 semapv:UnspecifiedMatching OMIM:619930 ZMAT2 skos:exactMatch ncbigene:153527 semapv:UnspecifiedMatching -OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:GFOD1 semapv:UnspecifiedMatching OMIM:619932 GFOD1 skos:exactMatch ncbigene:54438 semapv:UnspecifiedMatching -OMIM:619933 GFOD2 skos:exactMatch ncbigene:81577 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:GFOD1 semapv:UnspecifiedMatching OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:GFOD2 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch ncbigene:81577 semapv:UnspecifiedMatching OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:ASB17 semapv:UnspecifiedMatching OMIM:619936 ASB17 skos:exactMatch ncbigene:127247 semapv:UnspecifiedMatching OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:OR4M1 semapv:UnspecifiedMatching OMIM:619939 OR4M1 skos:exactMatch ncbigene:441670 semapv:UnspecifiedMatching OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:XKR8 semapv:UnspecifiedMatching OMIM:619940 XKR8 skos:exactMatch ncbigene:55113 semapv:UnspecifiedMatching -OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:ZNF541 semapv:UnspecifiedMatching OMIM:619942 ZNF541 skos:exactMatch ncbigene:84215 semapv:UnspecifiedMatching -OMIM:619943 KCTD19 skos:exactMatch ncbigene:146212 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:ZNF541 semapv:UnspecifiedMatching OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:KCTD19 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch ncbigene:146212 semapv:UnspecifiedMatching OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:CCSER2 semapv:UnspecifiedMatching OMIM:619944 CCSER2 skos:exactMatch ncbigene:54462 semapv:UnspecifiedMatching OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:FAM184B semapv:UnspecifiedMatching OMIM:619945 FAM184B skos:exactMatch ncbigene:27146 semapv:UnspecifiedMatching OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:MCF2L2 semapv:UnspecifiedMatching OMIM:619946 MCF2L2 skos:exactMatch ncbigene:23101 semapv:UnspecifiedMatching -OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:IPCEF1 semapv:UnspecifiedMatching OMIM:619948 IPCEF1 skos:exactMatch ncbigene:26034 semapv:UnspecifiedMatching -OMIM:619952 TMEM63B skos:exactMatch ncbigene:55362 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:IPCEF1 semapv:UnspecifiedMatching OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:TMEM63B semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch ncbigene:55362 semapv:UnspecifiedMatching OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:TMEM63C semapv:UnspecifiedMatching OMIM:619953 TMEM63C skos:exactMatch ncbigene:57156 semapv:UnspecifiedMatching OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:SYCE1L semapv:UnspecifiedMatching @@ -42185,8 +42189,8 @@ OMIM:619956 PYURF skos:exactMatch hgnc.symbol:PYURF semapv:UnspecifiedMatching OMIM:619956 PYURF skos:exactMatch ncbigene:100996939 semapv:UnspecifiedMatching OMIM:619958 GLMP skos:exactMatch ncbigene:112770 semapv:UnspecifiedMatching OMIM:619958 GLMP skos:exactMatch hgnc.symbol:GLMP semapv:UnspecifiedMatching -OMIM:619960 RAB5IF skos:exactMatch ncbigene:55969 semapv:UnspecifiedMatching OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:RAB5IF semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch ncbigene:55969 semapv:UnspecifiedMatching OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:FOXB1 semapv:UnspecifiedMatching OMIM:619961 FOXB1 skos:exactMatch ncbigene:27023 semapv:UnspecifiedMatching OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:FOXB2 semapv:UnspecifiedMatching @@ -42197,276 +42201,276 @@ OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:ALPK2 semapv:UnspecifiedMatching OMIM:619965 ALPK2 skos:exactMatch ncbigene:115701 semapv:UnspecifiedMatching OMIM:619968 ACBD4 skos:exactMatch ncbigene:79777 semapv:UnspecifiedMatching OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:ACBD4 semapv:UnspecifiedMatching -OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:ZBTB47 semapv:UnspecifiedMatching OMIM:619969 ZBTB47 skos:exactMatch ncbigene:92999 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:ZBTB47 semapv:UnspecifiedMatching OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:DNAJC16 semapv:UnspecifiedMatching OMIM:619973 DNAJC16 skos:exactMatch ncbigene:23341 semapv:UnspecifiedMatching OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:ESPNL semapv:UnspecifiedMatching OMIM:619974 ESPNL skos:exactMatch ncbigene:339768 semapv:UnspecifiedMatching OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:MFSD1 semapv:UnspecifiedMatching OMIM:619976 MFSD1 skos:exactMatch ncbigene:64747 semapv:UnspecifiedMatching -OMIM:619978 MATCAP1 skos:exactMatch ncbigene:653319 semapv:UnspecifiedMatching OMIM:619978 MATCAP1 skos:exactMatch hgnc.symbol:MATCAP1 semapv:UnspecifiedMatching -OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:C18orf32 semapv:UnspecifiedMatching +OMIM:619978 MATCAP1 skos:exactMatch ncbigene:653319 semapv:UnspecifiedMatching OMIM:619979 C18ORF32 skos:exactMatch ncbigene:497661 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:C18orf32 semapv:UnspecifiedMatching OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:VIM-AS1 semapv:UnspecifiedMatching OMIM:619982 VIMAS1 skos:exactMatch ncbigene:100507347 semapv:UnspecifiedMatching OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:NPIPB3 semapv:UnspecifiedMatching OMIM:619984 NPIPB3 skos:exactMatch ncbigene:23117 semapv:UnspecifiedMatching -OMIM:619987 NRARP skos:exactMatch ncbigene:441478 semapv:UnspecifiedMatching OMIM:619987 NRARP skos:exactMatch hgnc.symbol:NRARP semapv:UnspecifiedMatching -OMIM:619990 TMED7 skos:exactMatch ncbigene:51014 semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch ncbigene:441478 semapv:UnspecifiedMatching OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:TMED7 semapv:UnspecifiedMatching -OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:C3orf20 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch ncbigene:51014 semapv:UnspecifiedMatching OMIM:619992 C3ORF20 skos:exactMatch ncbigene:84077 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:C3orf20 semapv:UnspecifiedMatching OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:PRRT3 semapv:UnspecifiedMatching OMIM:619993 PRRT3 skos:exactMatch ncbigene:285368 semapv:UnspecifiedMatching OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:DYNLT5 semapv:UnspecifiedMatching OMIM:619994 DYNLT5 skos:exactMatch ncbigene:200132 semapv:UnspecifiedMatching -OMIM:619996 RSRC2 skos:exactMatch ncbigene:65117 semapv:UnspecifiedMatching OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:RSRC2 semapv:UnspecifiedMatching -OMIM:619997 SLC35F5 skos:exactMatch ncbigene:80255 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch ncbigene:65117 semapv:UnspecifiedMatching OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:SLC35F5 semapv:UnspecifiedMatching -OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:NUP42 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch ncbigene:80255 semapv:UnspecifiedMatching OMIM:619998 NUP42 skos:exactMatch ncbigene:11097 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:NUP42 semapv:UnspecifiedMatching OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:NAA40 semapv:UnspecifiedMatching OMIM:619999 NAA40 skos:exactMatch ncbigene:79829 semapv:UnspecifiedMatching OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:TMEM167A semapv:UnspecifiedMatching OMIM:620000 TMEM167A skos:exactMatch ncbigene:153339 semapv:UnspecifiedMatching OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:C5orf47 semapv:UnspecifiedMatching OMIM:620002 C5ORF47 skos:exactMatch ncbigene:133491 semapv:UnspecifiedMatching -OMIM:620003 TBC1D12 skos:exactMatch ncbigene:23232 semapv:UnspecifiedMatching OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:TBC1D12 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch ncbigene:23232 semapv:UnspecifiedMatching OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:NMRAL1 semapv:UnspecifiedMatching OMIM:620004 NMRAL1 skos:exactMatch ncbigene:57407 semapv:UnspecifiedMatching -OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:RAD54L2 semapv:UnspecifiedMatching OMIM:620006 RAD54L2 skos:exactMatch ncbigene:23132 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:RAD54L2 semapv:UnspecifiedMatching OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:H2AZ2 semapv:UnspecifiedMatching OMIM:620008 H2AZ2 skos:exactMatch ncbigene:94239 semapv:UnspecifiedMatching -OMIM:620013 RRP9 skos:exactMatch ncbigene:9136 semapv:UnspecifiedMatching OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:RRP9 semapv:UnspecifiedMatching -OMIM:620016 MXD4 skos:exactMatch ncbigene:10608 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch ncbigene:9136 semapv:UnspecifiedMatching OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:MXD4 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch ncbigene:10608 semapv:UnspecifiedMatching OMIM:620017 NRM skos:exactMatch hgnc.symbol:NRM semapv:UnspecifiedMatching OMIM:620017 NRM skos:exactMatch ncbigene:11270 semapv:UnspecifiedMatching -OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:PDIA4 semapv:UnspecifiedMatching OMIM:620018 PDIA4 skos:exactMatch ncbigene:9601 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:PDIA4 semapv:UnspecifiedMatching OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:G3BP2 semapv:UnspecifiedMatching OMIM:620020 G3BP2 skos:exactMatch ncbigene:9908 semapv:UnspecifiedMatching OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:ZSCAN1 semapv:UnspecifiedMatching OMIM:620026 ZSCAN1 skos:exactMatch ncbigene:284312 semapv:UnspecifiedMatching -OMIM:620030 RSRP1 skos:exactMatch ncbigene:57035 semapv:UnspecifiedMatching OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:RSRP1 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch ncbigene:57035 semapv:UnspecifiedMatching OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:PHC3 semapv:UnspecifiedMatching OMIM:620031 PHC3 skos:exactMatch ncbigene:80012 semapv:UnspecifiedMatching -OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:NIPAL3 semapv:UnspecifiedMatching OMIM:620034 NIPAL3 skos:exactMatch ncbigene:57185 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:NIPAL3 semapv:UnspecifiedMatching OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:SMAD5-AS1 semapv:UnspecifiedMatching OMIM:620035 SMAD5AS1 skos:exactMatch ncbigene:9597 semapv:UnspecifiedMatching OMIM:620036 IER2 skos:exactMatch hgnc.symbol:IER2 semapv:UnspecifiedMatching OMIM:620036 IER2 skos:exactMatch ncbigene:9592 semapv:UnspecifiedMatching -OMIM:620037 FAM193A skos:exactMatch ncbigene:8603 semapv:UnspecifiedMatching OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:FAM193A semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch ncbigene:8603 semapv:UnspecifiedMatching OMIM:620039 POGK skos:exactMatch hgnc.symbol:POGK semapv:UnspecifiedMatching OMIM:620039 POGK skos:exactMatch ncbigene:57645 semapv:UnspecifiedMatching -OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:NT5C3B semapv:UnspecifiedMatching OMIM:620041 NT5C3B skos:exactMatch ncbigene:115024 semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:NT5C3B semapv:UnspecifiedMatching OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:PHYHD1 semapv:UnspecifiedMatching OMIM:620042 PHYHD1 skos:exactMatch ncbigene:254295 semapv:UnspecifiedMatching OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:RDH16 semapv:UnspecifiedMatching OMIM:620043 RDH16 skos:exactMatch ncbigene:8608 semapv:UnspecifiedMatching -OMIM:620046 PFN4 skos:exactMatch ncbigene:375189 semapv:UnspecifiedMatching OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:PFN4 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch ncbigene:375189 semapv:UnspecifiedMatching OMIM:620048 RER1 skos:exactMatch hgnc.symbol:RER1 semapv:UnspecifiedMatching OMIM:620048 RER1 skos:exactMatch ncbigene:11079 semapv:UnspecifiedMatching -OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:PHF20L1 semapv:UnspecifiedMatching OMIM:620050 PHF20L1 skos:exactMatch ncbigene:51105 semapv:UnspecifiedMatching -OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:RNF41 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:PHF20L1 semapv:UnspecifiedMatching OMIM:620051 RNF41 skos:exactMatch ncbigene:10193 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:RNF41 semapv:UnspecifiedMatching OMIM:620052 ENTREP2 skos:exactMatch hgnc.symbol:ENTREP2 semapv:UnspecifiedMatching OMIM:620052 ENTREP2 skos:exactMatch ncbigene:23359 semapv:UnspecifiedMatching -OMIM:620053 LINC00974 skos:exactMatch ncbigene:147093 semapv:UnspecifiedMatching OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:LINC00974 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch ncbigene:147093 semapv:UnspecifiedMatching OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:PHF13 semapv:UnspecifiedMatching OMIM:620054 PHF13 skos:exactMatch ncbigene:148479 semapv:UnspecifiedMatching OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:PWP1 semapv:UnspecifiedMatching OMIM:620055 PWP1 skos:exactMatch ncbigene:11137 semapv:UnspecifiedMatching OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:PHF7 semapv:UnspecifiedMatching OMIM:620057 PHF7 skos:exactMatch ncbigene:51533 semapv:UnspecifiedMatching -OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:LINC00472 semapv:UnspecifiedMatching OMIM:620059 LINC00472 skos:exactMatch ncbigene:79940 semapv:UnspecifiedMatching -OMIM:620060 TTC7B skos:exactMatch ncbigene:145567 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:LINC00472 semapv:UnspecifiedMatching OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:TTC7B semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch ncbigene:145567 semapv:UnspecifiedMatching OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:CDK2AP2 semapv:UnspecifiedMatching OMIM:620061 CDK2AP2 skos:exactMatch ncbigene:10263 semapv:UnspecifiedMatching OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:POLA2 semapv:UnspecifiedMatching OMIM:620063 POLA2 skos:exactMatch ncbigene:23649 semapv:UnspecifiedMatching OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:OXER1 semapv:UnspecifiedMatching OMIM:620064 OXER1 skos:exactMatch ncbigene:165140 semapv:UnspecifiedMatching -OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:ANKIB1 semapv:UnspecifiedMatching OMIM:620069 ANKIB1 skos:exactMatch ncbigene:54467 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:ANKIB1 semapv:UnspecifiedMatching OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:LTV1 semapv:UnspecifiedMatching OMIM:620074 LTV1 skos:exactMatch ncbigene:84946 semapv:UnspecifiedMatching -OMIM:620077 PCMTD2 skos:exactMatch ncbigene:55251 semapv:UnspecifiedMatching OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:PCMTD2 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch ncbigene:55251 semapv:UnspecifiedMatching OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:FAM168B semapv:UnspecifiedMatching OMIM:620078 FAM168B skos:exactMatch ncbigene:130074 semapv:UnspecifiedMatching OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:LINC00467 semapv:UnspecifiedMatching OMIM:620079 LINC00467 skos:exactMatch ncbigene:84791 semapv:UnspecifiedMatching -OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:RBM26 semapv:UnspecifiedMatching OMIM:620081 RBM26 skos:exactMatch ncbigene:64062 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:RBM26 semapv:UnspecifiedMatching OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:RBM27 semapv:UnspecifiedMatching OMIM:620082 RBM27 skos:exactMatch ncbigene:54439 semapv:UnspecifiedMatching -OMIM:620087 DCAF12 skos:exactMatch ncbigene:25853 semapv:UnspecifiedMatching OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:DCAF12 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch ncbigene:25853 semapv:UnspecifiedMatching OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:WWC2-AS1 semapv:UnspecifiedMatching OMIM:620088 WWC2AS1 skos:exactMatch ncbigene:101928734 semapv:UnspecifiedMatching -OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:ZNF675 semapv:UnspecifiedMatching OMIM:620090 ZNF675 skos:exactMatch ncbigene:171392 semapv:UnspecifiedMatching -OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:PCMTD1 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:ZNF675 semapv:UnspecifiedMatching OMIM:620091 PCMTD1 skos:exactMatch ncbigene:115294 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:PCMTD1 semapv:UnspecifiedMatching OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:MIER2 semapv:UnspecifiedMatching OMIM:620092 MIER2 skos:exactMatch ncbigene:54531 semapv:UnspecifiedMatching -OMIM:620093 ACTMAP skos:exactMatch ncbigene:284325 semapv:UnspecifiedMatching OMIM:620093 ACTMAP skos:exactMatch hgnc.symbol:ACTMAP semapv:UnspecifiedMatching +OMIM:620093 ACTMAP skos:exactMatch ncbigene:284325 semapv:UnspecifiedMatching OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:ZCCHC2 semapv:UnspecifiedMatching OMIM:620095 ZCCHC2 skos:exactMatch ncbigene:54877 semapv:UnspecifiedMatching OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:RNF185 semapv:UnspecifiedMatching OMIM:620096 RNF185 skos:exactMatch ncbigene:91445 semapv:UnspecifiedMatching -OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:PLBD2 semapv:UnspecifiedMatching OMIM:620097 PLBD2 skos:exactMatch ncbigene:196463 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:PLBD2 semapv:UnspecifiedMatching OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:MIER3 semapv:UnspecifiedMatching OMIM:620100 MIER3 skos:exactMatch ncbigene:166968 semapv:UnspecifiedMatching -OMIM:620101 RHOV skos:exactMatch ncbigene:171177 semapv:UnspecifiedMatching OMIM:620101 RHOV skos:exactMatch hgnc.symbol:RHOV semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch ncbigene:171177 semapv:UnspecifiedMatching OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:CLEC4F semapv:UnspecifiedMatching OMIM:620105 CLEC4F skos:exactMatch ncbigene:165530 semapv:UnspecifiedMatching OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:TMEM151A semapv:UnspecifiedMatching OMIM:620108 TMEM151A skos:exactMatch ncbigene:256472 semapv:UnspecifiedMatching -OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:DCAF15 semapv:UnspecifiedMatching OMIM:620109 DCAF15 skos:exactMatch ncbigene:90379 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:DCAF15 semapv:UnspecifiedMatching OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:WWC2 semapv:UnspecifiedMatching OMIM:620110 WWC2 skos:exactMatch ncbigene:80014 semapv:UnspecifiedMatching -OMIM:620112 APOA1AS skos:exactMatch ncbigene:104326055 semapv:UnspecifiedMatching OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:APOA1-AS semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch ncbigene:104326055 semapv:UnspecifiedMatching OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:MIR887 semapv:UnspecifiedMatching OMIM:620117 MIR887 skos:exactMatch ncbigene:100126347 semapv:UnspecifiedMatching -OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:ZNF490 semapv:UnspecifiedMatching OMIM:620118 ZNF490 skos:exactMatch ncbigene:57474 semapv:UnspecifiedMatching -OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:DENND2A semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:ZNF490 semapv:UnspecifiedMatching OMIM:620120 DENND2A skos:exactMatch ncbigene:27147 semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:DENND2A semapv:UnspecifiedMatching OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:DENND11 semapv:UnspecifiedMatching OMIM:620122 DENND11 skos:exactMatch ncbigene:57189 semapv:UnspecifiedMatching -OMIM:620123 FBRSL1 skos:exactMatch ncbigene:57666 semapv:UnspecifiedMatching OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:FBRSL1 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch ncbigene:57666 semapv:UnspecifiedMatching OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:ZNF492 semapv:UnspecifiedMatching OMIM:620124 ZNF492 skos:exactMatch ncbigene:57615 semapv:UnspecifiedMatching -OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:MIR151A semapv:UnspecifiedMatching OMIM:620127 MIR151A skos:exactMatch ncbigene:442893 semapv:UnspecifiedMatching -OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:FSTL5 semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:MIR151A semapv:UnspecifiedMatching OMIM:620128 FSTL5 skos:exactMatch ncbigene:56884 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:FSTL5 semapv:UnspecifiedMatching OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:NYNRIN semapv:UnspecifiedMatching OMIM:620129 NYNRIN skos:exactMatch ncbigene:57523 semapv:UnspecifiedMatching -OMIM:620130 ODF2L skos:exactMatch ncbigene:57489 semapv:UnspecifiedMatching OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:ODF2L semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch ncbigene:57489 semapv:UnspecifiedMatching OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:DEFB126 semapv:UnspecifiedMatching OMIM:620131 DEFB126 skos:exactMatch ncbigene:81623 semapv:UnspecifiedMatching OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:ZSWIM5 semapv:UnspecifiedMatching OMIM:620132 ZSWIM5 skos:exactMatch ncbigene:57643 semapv:UnspecifiedMatching -OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:PLEKHG1 semapv:UnspecifiedMatching OMIM:620134 PLEKHG1 skos:exactMatch ncbigene:57480 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:PLEKHG1 semapv:UnspecifiedMatching OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:NUDCD2 semapv:UnspecifiedMatching OMIM:620136 NUDCD2 skos:exactMatch ncbigene:134492 semapv:UnspecifiedMatching -OMIM:620140 SYCN skos:exactMatch ncbigene:342898 semapv:UnspecifiedMatching OMIM:620140 SYCN skos:exactMatch hgnc.symbol:SYCN semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch ncbigene:342898 semapv:UnspecifiedMatching OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:CENATAC semapv:UnspecifiedMatching OMIM:620142 CENATAC skos:exactMatch ncbigene:338657 semapv:UnspecifiedMatching -OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:TMEM232 semapv:UnspecifiedMatching OMIM:620143 TMEM232 skos:exactMatch ncbigene:642987 semapv:UnspecifiedMatching -OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:CACHD1 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:TMEM232 semapv:UnspecifiedMatching OMIM:620144 CACHD1 skos:exactMatch ncbigene:57685 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:CACHD1 semapv:UnspecifiedMatching OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:CRYBG3 semapv:UnspecifiedMatching OMIM:620146 CRYBG3 skos:exactMatch ncbigene:131544 semapv:UnspecifiedMatching -OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:RBM46 semapv:UnspecifiedMatching -OMIM:620159 PNMA8B skos:exactMatch ncbigene:57469 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:PNMA8B semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch ncbigene:57469 semapv:UnspecifiedMatching OMIM:620160 IQCN skos:exactMatch hgnc.symbol:IQCN semapv:UnspecifiedMatching OMIM:620160 IQCN skos:exactMatch ncbigene:80726 semapv:UnspecifiedMatching -OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:ZNF471 semapv:UnspecifiedMatching OMIM:620162 ZNF471 skos:exactMatch ncbigene:57573 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:ZNF471 semapv:UnspecifiedMatching OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:ZFP14 semapv:UnspecifiedMatching OMIM:620163 ZFP14 skos:exactMatch ncbigene:57677 semapv:UnspecifiedMatching OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:ZBTB26 semapv:UnspecifiedMatching OMIM:620164 ZBTB26 skos:exactMatch ncbigene:57684 semapv:UnspecifiedMatching -OMIM:620165 LRCH4 skos:exactMatch ncbigene:4034 semapv:UnspecifiedMatching OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:LRCH4 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch ncbigene:4034 semapv:UnspecifiedMatching OMIM:620168 ATOSA skos:exactMatch hgnc.symbol:ATOSA semapv:UnspecifiedMatching OMIM:620168 ATOSA skos:exactMatch ncbigene:56204 semapv:UnspecifiedMatching -OMIM:620169 ATOSB skos:exactMatch hgnc.symbol:ATOSB semapv:UnspecifiedMatching OMIM:620169 ATOSB skos:exactMatch ncbigene:80256 semapv:UnspecifiedMatching +OMIM:620169 ATOSB skos:exactMatch hgnc.symbol:ATOSB semapv:UnspecifiedMatching OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:NHSL1 semapv:UnspecifiedMatching OMIM:620171 NHSL1 skos:exactMatch ncbigene:57224 semapv:UnspecifiedMatching -OMIM:620172 NWD2 skos:exactMatch ncbigene:57495 semapv:UnspecifiedMatching OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:NWD2 semapv:UnspecifiedMatching -OMIM:620175 RUBCNL skos:exactMatch ncbigene:80183 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch ncbigene:57495 semapv:UnspecifiedMatching OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:RUBCNL semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch ncbigene:80183 semapv:UnspecifiedMatching OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:DDX55 semapv:UnspecifiedMatching OMIM:620176 DDX55 skos:exactMatch ncbigene:57696 semapv:UnspecifiedMatching -OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:GRAMD1A semapv:UnspecifiedMatching OMIM:620178 GRAMD1A skos:exactMatch ncbigene:57655 semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:GRAMD1A semapv:UnspecifiedMatching OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:GRAMD1B semapv:UnspecifiedMatching OMIM:620179 GRAMD1B skos:exactMatch ncbigene:57476 semapv:UnspecifiedMatching OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:GRAMD1C semapv:UnspecifiedMatching OMIM:620180 GRAMD1C skos:exactMatch ncbigene:54762 semapv:UnspecifiedMatching -OMIM:620181 GRAMD2A skos:exactMatch ncbigene:196996 semapv:UnspecifiedMatching OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:GRAMD2A semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch ncbigene:196996 semapv:UnspecifiedMatching OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:GRAMD2B semapv:UnspecifiedMatching OMIM:620182 GRAMD2B skos:exactMatch ncbigene:65983 semapv:UnspecifiedMatching -OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:CFAP74 semapv:UnspecifiedMatching OMIM:620187 CFAP74 skos:exactMatch ncbigene:85452 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:CFAP74 semapv:UnspecifiedMatching OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:TANGO6 semapv:UnspecifiedMatching OMIM:620188 TANGO6 skos:exactMatch ncbigene:79613 semapv:UnspecifiedMatching OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:ABHD16B semapv:UnspecifiedMatching OMIM:620190 ABHD16B skos:exactMatch ncbigene:140701 semapv:UnspecifiedMatching -OMIM:620202 VAT1L skos:exactMatch ncbigene:57687 semapv:UnspecifiedMatching OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:VAT1L semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch ncbigene:57687 semapv:UnspecifiedMatching OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:RNU12 semapv:UnspecifiedMatching OMIM:620204 RNU12 skos:exactMatch ncbigene:267010 semapv:UnspecifiedMatching -OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:ITPRIP semapv:UnspecifiedMatching OMIM:620205 ITPRIP skos:exactMatch ncbigene:85450 semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:ITPRIP semapv:UnspecifiedMatching OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:SAMD1 semapv:UnspecifiedMatching OMIM:620206 SAMD1 skos:exactMatch ncbigene:90378 semapv:UnspecifiedMatching OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:HECTD4 semapv:UnspecifiedMatching OMIM:620209 HECTD4 skos:exactMatch ncbigene:283450 semapv:UnspecifiedMatching -OMIM:620212 SBK1 skos:exactMatch ncbigene:388228 semapv:UnspecifiedMatching OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:SBK1 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch ncbigene:388228 semapv:UnspecifiedMatching OMIM:620213 SANBR skos:exactMatch hgnc.symbol:SANBR semapv:UnspecifiedMatching OMIM:620213 SANBR skos:exactMatch ncbigene:84542 semapv:UnspecifiedMatching OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:HHIPL2 semapv:UnspecifiedMatching OMIM:620214 HHIPL2 skos:exactMatch ncbigene:79802 semapv:UnspecifiedMatching -OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:MINAR2 semapv:UnspecifiedMatching OMIM:620215 MINAR2 skos:exactMatch ncbigene:100127206 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:MINAR2 semapv:UnspecifiedMatching OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:SLC5A9 semapv:UnspecifiedMatching OMIM:620216 SLC5A9 skos:exactMatch ncbigene:200010 semapv:UnspecifiedMatching -OMIM:620217 CEP44 skos:exactMatch ncbigene:80817 semapv:UnspecifiedMatching OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:CEP44 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch ncbigene:80817 semapv:UnspecifiedMatching OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:SHISAL2A semapv:UnspecifiedMatching OMIM:620218 SHISAL2A skos:exactMatch ncbigene:348378 semapv:UnspecifiedMatching OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:SHISAL2B semapv:UnspecifiedMatching OMIM:620219 SHISAL2B skos:exactMatch ncbigene:100132916 semapv:UnspecifiedMatching -OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:SHISAL1 semapv:UnspecifiedMatching OMIM:620220 SHISAL1 skos:exactMatch ncbigene:85352 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:SHISAL1 semapv:UnspecifiedMatching OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:ELFN2 semapv:UnspecifiedMatching OMIM:620223 ELFN2 skos:exactMatch ncbigene:114794 semapv:UnspecifiedMatching -OMIM:620225 SOGA1 skos:exactMatch ncbigene:140710 semapv:UnspecifiedMatching OMIM:620225 SOGA1 skos:exactMatch hgnc.symbol:SOGA1 semapv:UnspecifiedMatching +OMIM:620225 SOGA1 skos:exactMatch ncbigene:140710 semapv:UnspecifiedMatching OMIM:620226 USP37 skos:exactMatch hgnc.symbol:USP37 semapv:UnspecifiedMatching OMIM:620226 USP37 skos:exactMatch ncbigene:57695 semapv:UnspecifiedMatching OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:FHIP1B semapv:UnspecifiedMatching OMIM:620229 FHIP1B skos:exactMatch ncbigene:84067 semapv:UnspecifiedMatching -OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:FHIP2B semapv:UnspecifiedMatching OMIM:620230 FHIP2B skos:exactMatch ncbigene:64760 semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:FHIP2B semapv:UnspecifiedMatching OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:ANKRD24 semapv:UnspecifiedMatching OMIM:620234 ANKRD24 skos:exactMatch ncbigene:170961 semapv:UnspecifiedMatching OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:B3GALT9 semapv:UnspecifiedMatching @@ -42475,8 +42479,62 @@ OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:TMEM80 semapv:UnspecifiedMatching OMIM:620248 TMEM80 skos:exactMatch ncbigene:283232 semapv:UnspecifiedMatching OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:CEP170B semapv:UnspecifiedMatching OMIM:620251 CEP170B skos:exactMatch ncbigene:283638 semapv:UnspecifiedMatching -OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:TMEM245 semapv:UnspecifiedMatching OMIM:620252 TMEM245 skos:exactMatch ncbigene:23731 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:TMEM245 semapv:UnspecifiedMatching OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:RNFT2 semapv:UnspecifiedMatching OMIM:620254 RNFT2 skos:exactMatch ncbigene:84900 semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:MFSD13A semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch ncbigene:79847 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:CLRN3 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch ncbigene:119467 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:TMEM158 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch ncbigene:25907 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch ncbigene:54958 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:TMEM160 semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch ncbigene:253650 semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:ANKRD18A semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:TMEM132B semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch ncbigene:114795 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:EMC6 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch ncbigene:83460 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:ANKRD36 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch ncbigene:375248 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:OOSP2 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch ncbigene:219990 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch ncbigene:84302 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:PGAP4 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:RIMOC1 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch ncbigene:285636 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:RMC1 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch ncbigene:29919 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:FHDC1 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch ncbigene:85462 semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch ncbigene:440026 semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:TMEM41B semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch ncbigene:283999 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:TMEM235 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:EMC3 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch ncbigene:55831 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:WDR87 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch ncbigene:83889 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:DAW1 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch ncbigene:164781 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:TMEM71 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch ncbigene:137835 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch ncbigene:127670 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:TEDDM1 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:TMEM234 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch ncbigene:56063 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:TMEM219 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch ncbigene:124446 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:WDR18 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch ncbigene:57418 semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:TMEM9B semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch ncbigene:56674 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:DCAF10 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch ncbigene:79269 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:SLC35A4 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch ncbigene:113829 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:SLC35A5 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch ncbigene:55032 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index d16909ae..ac11e791 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-24") +Annotation(owl:versionInfo "2023-03-28") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index e2b48da4..ad807950 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-24") +Annotation(owl:versionInfo "2023-03-28") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 836c6e21..fa83f168 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,29 +3,29 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in `unmapped_icd_lex`: 1947 - * Number of mappings in `unmapped_omim_lex`: 13 - * Number of mappings in `unmapped_ordo_lex`: 83 - * Number of mappings in `unmapped_doid_lex`: 1211 - * Number of mappings in `unmapped_ncit_lex`: 417 - * Number of mappings in `unmapped_icd_mondo`: 36 - * Number of mappings in `unmapped_omim_mondo`: 1749 - * Number of mappings in `unmapped_ordo_mondo`: 1366 + * Number of mappings in `unmapped_icd_lex`: 1937 + * Number of mappings in `unmapped_omim_lex`: 43 + * Number of mappings in `unmapped_ordo_lex`: 78 + * Number of mappings in `unmapped_doid_lex`: 1094 + * Number of mappings in `unmapped_ncit_lex`: 418 + * Number of mappings in `unmapped_icd_mondo`: 37 + * Number of mappings in `unmapped_omim_mondo`: 2164 + * Number of mappings in `unmapped_ordo_mondo`: 1369 * Number of mappings in `unmapped_doid_mondo`: 48 - * Number of mappings in `unmapped_ncit_mondo`: 2761 + * Number of mappings in `unmapped_ncit_mondo`: 2759 + * Number of mappings in `mondo_exactmatch_orphanet`: 1445 + * Number of mappings in `mondo_closematch_orphanet`: 17 + * Number of mappings in `mondo_broadmatch_orphanet`: 1 + * Number of mappings in `mondo_exactmatch_icd10cm`: 1972 * Number of mappings in `mondo_narrowmatch_icd10cm`: 354 - * Number of mappings in `mondo_exactmatch_icd10cm`: 1981 + * Number of mappings in `mondo_closematch_icd10cm`: 426 * Number of mappings in `mondo_broadmatch_icd10cm`: 77 - * Number of mappings in `mondo_closematch_icd10cm`: 432 - * Number of mappings in `mondo_exactmatch_orphanet`: 1447 - * Number of mappings in `mondo_broadmatch_orphanet`: 1 - * Number of mappings in `mondo_closematch_orphanet`: 25 - * Number of mappings in `mondo_exactmatch_ncit`: 3179 + * Number of mappings in `mondo_exactmatch_ncit`: 3178 + * Number of mappings in `mondo_closematch_ncit`: 273 * Number of mappings in `mondo_broadmatch_ncit`: 29 - * Number of mappings in `mondo_closematch_ncit`: 275 - * Number of mappings in `mondo_narrowmatch_doid`: 28 - * Number of mappings in `mondo_exactmatch_doid`: 1257 - * Number of mappings in `mondo_broadmatch_doid`: 18 - * Number of mappings in `mondo_closematch_doid`: 2041 - * Number of mappings in `mondo_exactmatch_omim`: 1220 - * Number of mappings in `mondo_closematch_omim`: 7 + * Number of mappings in `mondo_exactmatch_omim`: 1673 + * Number of mappings in `mondo_closematch_omim`: 4 + * Number of mappings in `mondo_exactmatch_doid`: 1140 + * Number of mappings in `mondo_narrowmatch_doid`: 26 + * Number of mappings in `mondo_closematch_doid`: 1694 + * Number of mappings in `mondo_broadmatch_doid`: 12 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_icd_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_icd_mondo.tsv index 9f1cd115..e7511a6d 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_icd_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_icd_mondo.tsv @@ -23,6 +23,7 @@ MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis ICD10CM:M08. MONDO:0006731 drug-induced akathisia ICD10CM:G25.71 MONDO:equivalentTo Drug induced akathisia semapv:UnspecifiedMatching MONDO:0006977 spermatocele ICD10CM:N43.4 MONDO:equivalentTo Spermatocele of epididymis semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome ICD10CM:A81.82 MONDO:equivalentTo Gerstmann-Sträussler-Scheinker syndrome semapv:UnspecifiedMatching +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency ICD10CM:E71.312 MONDO:equivalentTo Short chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption ICD10CM:Q25.21 MONDO:equivalentTo Interruption of aortic arch semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.819 MONDO:equivalentTo Biotin-dependent carboxylase deficiency, unspecified semapv:UnspecifiedMatching MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral ICD10CM:Q71.13 MONDO:equivalentTo Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index e4147276..ee68d006 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -913,7 +913,6 @@ MONDO:0007266 hypertrophic cardiomyopathy 2 NCIT:C142892 MONDO:equivalentTo Fami MONDO:0007268 hypertrophic cardiomyopathy 4 NCIT:C133725 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 NCIT:C134952 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation NCIT:C84567 MONDO:equivalentTo Aortic Coarctation semapv:UnspecifiedMatching -MONDO:0007356 Lynch syndrome 1 NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy NCIT:C123025 MONDO:equivalentTo Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 NCIT:C129744 MONDO:equivalentTo Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 NCIT:C129741 MONDO:equivalentTo Glucokinase-Associated Diabetes Mellitus semapv:UnspecifiedMatching @@ -1052,7 +1051,6 @@ MONDO:0012089 ichthyosis prematurity syndrome NCIT:C62590 MONDO:equivalentTo Idi MONDO:0012105 granulomatosis with polyangiitis NCIT:C123111 MONDO:equivalentTo Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head NCIT:C35480 MONDO:equivalentTo Aseptic Necrosis of Femoral Head semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K NCIT:C133730 MONDO:equivalentTo Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching -MONDO:0012249 colorectal cancer, hereditary nonpolyposis, type 2 NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency NCIT:C98863 MONDO:equivalentTo Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism NCIT:C131839 MONDO:equivalentTo Monocarboxylate Transporter 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia NCIT:C35172 MONDO:equivalentTo Congenital Aphakia semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 93772550..98af7110 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -121,11 +121,11 @@ MONDO:0005500 congenital disorder of glycosylation type I OMIMPS:212065 MONDO:eq MONDO:0005501 congenital disorder of glycosylation type II OMIMPS:212066 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia OMIMPS:600165 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized OMIMPS:600669 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0005711 congenital diaphragmatic hernia OMIMPS:142340 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus OMIMPS:310700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia OMIMPS:256450 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome OMIMPS:236680 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole OMIMPS:231090 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0006292 malignant mesothelioma OMIM:156240 MONDO:equivalentTo mesothelioma, malignant semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma OMIM:155720 MONDO:equivalentTo melanoma, uveal semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis OMIMPS:235200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy OMIMPS:608594 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -148,7 +148,9 @@ MONDO:0007339 blepharocheilodontic syndrome OMIMPS:119580 MONDO:equivalentTo se MONDO:0007347 obsolete Coxsackievirus B3 susceptibility OMIM:120050 MONDO:equivalentTo coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO:0007348 obsolete colchicine resistance OMIM:120080 MONDO:equivalentTo colchicine resistance semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy OMIMPS:122100 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0007380 lattice corneal dystrophy type I OMIM:122200 MONDO:equivalentTo corneal dystrophy, lattice iia 1 semapv:UnspecifiedMatching MONDO:0007386 obsolete human coronavirus sensitivity OMIM:122460 MONDO:equivalentTo human coronavirus sensitivity semapv:UnspecifiedMatching +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 OMIM:124000 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna OMIM:124400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal OMIM:125800 MONDO:equivalentTo diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching @@ -160,8 +162,8 @@ MONDO:0007506 obsoleted echo virus 11 sensitivity OMIM:129150 MONDO:equivalentTo MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type OMIM:131950 MONDO:equivalentTo epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching MONDO:0007602 obsolete favism, susceptibility to OMIM:134700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles OMIMPS:135700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007617 Coffin-Siris syndrome 1 OMIM:609943 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 OMIM:614562 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0007617 Coffin-Siris syndrome 1 OMIM:609943 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) OMIM:136580 MONDO:equivalentTo fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type OMIM:136630 MONDO:equivalentTo intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia OMIM:137560 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -171,12 +173,14 @@ MONDO:0007779 autosomal dominant Opitz G/BBB syndrome OMIM:145410 MONDO:equivale MONDO:0007788 hypertriglyceridemia, familial OMIM:145750 MONDO:equivalentTo hypertriglyceridemia 1 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 OMIM:146200 MONDO:equivalentTo hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots OMIM:146400 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0007808 ichthyosis hystrix of Curth-Macklin OMIM:146590 MONDO:equivalentTo ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:146840 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines OMIMPS:151100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007903 Li-Fraumeni syndrome 1 OMIM:609266 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy OMIM:153870 MONDO:equivalentTo retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type OMIM:156230 MONDO:equivalentTo mesomelic dwarfism of hypoplastic tibia and radius iia semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type OMIM:156400 MONDO:equivalentTo metaphyseal chondrodysplasia, jansen iia semapv:UnspecifiedMatching +MONDO:0007983 Schmid metaphyseal chondrodysplasia OMIM:156500 MONDO:equivalentTo metaphyseal chondrodysplasia, schmid iia semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 OMIM:156520 MONDO:equivalentTo metatarsus varus, iia 1 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse OMIMPS:157700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia OMIM:158310 MONDO:equivalentTo mucoepithelial dysplasia, hereditary semapv:UnspecifiedMatching @@ -186,6 +190,7 @@ MONDO:0008046 autosomal dominant myoglobinuria OMIM:160010 MONDO:equivalentTo my MONDO:0008051 tubular aggregate myopathy OMIMPS:160565 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008074 obsolete nerve growth factor, alpha subunit OMIM:162020 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis OMIMPS:162091 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0008076 amyotrophic neuralgia OMIM:162100 MONDO:equivalentTo amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching MONDO:0008091 obsolete abnormal neutrophil chemotactic response OMIM:162820 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008126 obsolete oncogene Yuasa OMIM:164891 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome OMIMPS:166780 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -196,15 +201,19 @@ MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies OMIM MONDO:0008323 Liddle syndrome OMIMPS:177200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome OMIMPS:180860 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type OMIM:180950 MONDO:equivalentTo salivary substance, clostridium botulinum iia semapv:UnspecifiedMatching +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy OMIM:181430 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008415 obsolete Scholte syndrome OMIM:181515 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia OMIMPS:182250 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0008448 spheroid body myopathy OMIM:182920 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type OMIM:184095 MONDO:equivalentTo spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type OMIM:184252 MONDO:equivalentTo spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:277610 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism OMIMPS:185800 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome OMIM:609464 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of OMIM:191800 MONDO:equivalentTo bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching +MONDO:0008701 achondrogenesis type IA OMIM:200600 MONDO:equivalentTo achondrogenesis, iia 1a semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type OMIM:201250 MONDO:equivalentTo acromesomelic dysplasia 2c semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency OMIMPS:202200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome OMIMPS:203650 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -226,7 +235,10 @@ MONDO:0009050 Cushing disease due to pituitary adenoma OMIM:219090 MONDO:equival MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type OMIM:220111 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome OMIMPS:222470 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0009117 obsolete disorganization, mouse, homolog of OMIM:223200 MONDO:equivalentTo disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium OMIMPS:224050 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia OMIM:224410 MONDO:equivalentTo dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type OMIM:225320 MONDO:equivalentTo ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B OMIM:614894 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome OMIMPS:229200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency OMIM:230450 MONDO:equivalentTo gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching @@ -243,29 +255,34 @@ MONDO:0009506 specific granule deficiency OMIMPS:245480 MONDO:equivalentTo sema MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease OMIMPS:248600 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type OMIM:250400 MONDO:equivalentTo metaphyseal dysplasia, spahr iia semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type OMIM:251100 MONDO:equivalentTo methylmalonic aciduria, cbla iia semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type OMIM:251110 MONDO:equivalentTo methylmalonic aciduria, cblb iia semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome OMIMPS:251290 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome OMIMPS:251300 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo mucopolysaccharidoses, unclassified types semapv:UnspecifiedMatching +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B OMIM:253601 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy OMIM:253900 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy OMIMPS:254130 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy OMIMPS:254770 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome OMIMPS:256040 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0009733 nephrotic syndrome, type 4 OMIM:256370 MONDO:equivalentTo nephrotic syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type OMIM:259250 MONDO:equivalentTo osteodysplasia, familial, anderson iia semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis OMIMPS:260370 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome OMIMPS:260400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM:260570 MONDO:equivalentTo immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome OMIMPS:261100 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0009893 polydactyly, postaxial, type A5 OMIM:263450 MONDO:equivalentTo polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome OMIM:263650 MONDO:equivalentTo bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, autosomal recessive OMIM:265400 MONDO:equivalentTo pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease OMIMPS:265450 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome OMIMPS:268400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability OMIM:270600 MONDO:equivalentTo spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type OMIM:271650 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, irapa iia semapv:UnspecifiedMatching MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis OMIM:278100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome OMIM:278800 MONDO:equivalentTo lange sanctis-cacchione syndrome semapv:UnspecifiedMatching +MONDO:0010241 congenital stationary night blindness 2A OMIM:300071 MONDO:equivalentTo night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching MONDO:0010244 CGF1 OMIM:300082 MONDO:equivalentTo cognitive function 1, social semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome OMIM:300987 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency OMIM:300274 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -276,6 +293,8 @@ MONDO:0010327 HSD10 mitochondrial disease OMIM:300220 MONDO:equivalentTo semapv MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome OMIM:300455 MONDO:equivalentTo retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome OMIM:300471 MONDO:equivalentTo cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM:300491 MONDO:equivalentTo epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching +MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 OMIM:300494 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 OMIM:300497 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 OMIM:300498 MONDO:equivalentTo intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -285,6 +304,7 @@ MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome MONDO:0010443 macular degeneration, X-linked atrophic OMIM:300834 MONDO:equivalentTo macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 OMIM:300852 MONDO:equivalentTo intellectual developmental disorder, X-linked 88 semapv:UnspecifiedMatching MONDO:0010470 obsolete Baratela-Scott syndrome OMIM:300881 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010471 Cornelia de Lange syndrome 5 OMIM:300882 MONDO:equivalentTo cornelia lange lange syndrome 5 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 OMIM:300958 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, snijders blok iia semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 OMIM:300966 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic 33 semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome OMIM:300979 MONDO:equivalentTo chromosome xq25 duplication syndrome semapv:UnspecifiedMatching @@ -298,24 +318,33 @@ MONDO:0010600 granulomatous disease, chronic, X-linked OMIM:138990 MONDO:equival MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010666 obsolete Miles-Carpenter syndrome OMIM:309605 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies OMIMPS:309801 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010720 partial androgen insensitivity syndrome OMIM:312100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome OMIM:307300 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010720 partial androgen insensitivity syndrome OMIM:312100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked OMIM:400004 MONDO:equivalentTo retinitis pigmentosa, Y-linked semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis OMIMPS:400044 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010804 obsolete BRCATA OMIM:600048 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy OMIMPS:600131 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III OMIM:600209 MONDO:equivalentTo exostoses, multiple, iia 3 semapv:UnspecifiedMatching +MONDO:0010859 atrioventricular septal defect 3 OMIM:600309 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010903 craniosynostosis, Adelaide type OMIM:600593 MONDO:equivalentTo craniosynostosis, adelaide iia semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma OMIM:600634 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010920 microtia OMIM:600674 MONDO:equivalentTo microtia-anotia semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria OMIMPS:600721 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010931 vitamin D-dependent rickets, type 2B OMIM:600785 MONDO:equivalentTo vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM:614696 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010957 agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations OMIM:600908 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010966 achondrogenesis type IB OMIM:600972 MONDO:equivalentTo achondrogenesis, iia 1b semapv:UnspecifiedMatching +MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 OMIM:600996 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 OMIM:601101 MONDO:equivalentTo telangiectasia, hereditary hemorrhagic, iia 3 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome OMIMPS:601228 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F OMIM:601287 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type OMIM:601356 MONDO:equivalentTo lethal short-limb skeletal dysplasia, al gazali iia semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis OMIMPS:601471 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome OMIM:601812 MONDO:equivalentTo premature aging syndrome, penttinen iia semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G OMIM:601954 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0011187 polydactyly, postaxial, type A2 OMIM:602085 MONDO:equivalentTo polydactyly, postaxial, iia a2 semapv:UnspecifiedMatching +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type OMIM:602557 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, shohat iia semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 OMIM:603285 MONDO:equivalentTo cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II OMIM:603592 MONDO:equivalentTo xanthinuria, iia 2 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure OMIM:607569 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -323,6 +352,7 @@ MONDO:0011381 dominant beta-thalassemia OMIM:603902 MONDO:equivalentTo beta-thal MONDO:0011401 Alzheimer disease without neurofibrillary tangles OMIM:611155 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E OMIM:604286 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder OMIMPS:604391 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0011493 Stickler syndrome type 2 OMIM:604841 MONDO:equivalentTo stickler syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 OMIM:605115 MONDO:equivalentTo hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:UnspecifiedMatching MONDO:0011525 Carney complex type 2 OMIM:605244 MONDO:equivalentTo carney complex, iia 2 semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -331,6 +361,7 @@ MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome O MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting OMIM:605856 MONDO:equivalentTo short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type OMIM:605946 MONDO:equivalentTo metaphyseal dysplasia, braun-tinschert iia semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG OMIM:606483 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2gg semapv:UnspecifiedMatching +MONDO:0011690 Camurati-Engelmann disease, type 2 OMIM:606631 MONDO:equivalentTo camurati-engelmann disease, iia 2 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM:606721 MONDO:equivalentTo lipodystrophy, familial partial, iia 7 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 OMIM:606785 MONDO:equivalentTo crigler-najjar syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome OMIM:607080 MONDO:equivalentTo 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching @@ -351,7 +382,9 @@ MONDO:0012016 capillary malformation-arteriovenous malformation syndrome OMIMPS: MONDO:0012017 Parkes Weber syndrome OMIM:608355 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F OMIM:608423 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 OMIM:608443 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0012044 corneal dystrophy, lattice type 3A OMIM:608471 MONDO:equivalentTo corneal dystrophy, lattice iia 3a semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome OMIMPS:608567 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy OMIM:608612 MONDO:equivalentTo mandibuloacral dysplasia with iia B lipodystrophy semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome OMIM:608615 MONDO:equivalentTo oligodontia-colorectal cancer syndrome semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head OMIMPS:608805 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J OMIM:608807 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching @@ -363,42 +396,63 @@ MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 OMIM:609161 M MONDO:0012215 myofibrillar myopathy 3 OMIM:159000 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type OMIM:609223 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 OMIM:609241 MONDO:equivalentTo schindler disease, iia 1 semapv:UnspecifiedMatching +MONDO:0012239 nemaline myopathy 1 OMIM:609284 MONDO:equivalentTo congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 OMIM:609307 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0012279 congenital muscular dystrophy merosin-positive OMIM:609456 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related OMIM:609535 MONDO:equivalentTo drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO:0012337 glaucoma 1, open angle, I OMIM:609745 MONDO:equivalentTo glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type OMIM:610140 MONDO:equivalentTo heart-hand syndrome, slovenian iia semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome OMIMPS:610253 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 OMIM:610269 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012501 obsolete mutagen sensitivity OMIM:610452 MONDO:equivalentTo mutagen sensitivity semapv:UnspecifiedMatching +MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 OMIM:610655 MONDO:equivalentTo telangiectasia, hereditary hemorrhagic, iia 4 semapv:UnspecifiedMatching +MONDO:0012546 nephrotic syndrome, type 3 OMIM:610725 MONDO:equivalentTo nephrotic syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency OMIM:610798 MONDO:equivalentTo immunodeficiency due to defect 1n mapbp-interacting protein semapv:UnspecifiedMatching MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 OMIM:610799 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis OMIMPS:265120 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 OMIM:611038 MONDO:equivalentTo microphthalmia, syndromic 16 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L OMIM:611307 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome OMIM:611890 MONDO:equivalentTo congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching +MONDO:0012755 episodic ataxia type 7 OMIM:611907 MONDO:equivalentTo episodic ataxia, iia 7 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 OMIM:611929 MONDO:equivalentTo camptodactyly syndrome, guadalajara, iia 3 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome OMIMPS:612199 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency OMIM:612260 MONDO:equivalentTo immunodeficiency 68 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome OMIM:233500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012878 Cowden syndrome 2 OMIM:612359 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0012890 pontocerebellar hypoplasia type 2B OMIM:612389 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2b semapv:UnspecifiedMatching +MONDO:0012891 pontocerebellar hypoplasia type 2C OMIM:612390 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2c semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 OMIM:612526 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 3 semapv:UnspecifiedMatching +MONDO:0012982 episodic ataxia type 6 OMIM:612656 MONDO:equivalentTo episodic ataxia, iia 6 semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia OMIM:612759 MONDO:equivalentTo synesthesia semapv:UnspecifiedMatching +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type OMIM:612813 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, aggrecan iia semapv:UnspecifiedMatching +MONDO:0013039 3M syndrome 2 OMIM:612921 MONDO:equivalentTo three m syndrome 2 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form OMIMPS:613038 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins OMIM:613070 MONDO:equivalentTo liver failure, infantile, transient semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency OMIM:613118 MONDO:equivalentTo antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile OMIMPS:613135 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive OMIM:613195 MONDO:equivalentTo weill-marchesani syndrome 4 semapv:UnspecifiedMatching MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 OMIM:613244 MONDO:equivalentTo lynch syndrome 8 semapv:UnspecifiedMatching +MONDO:0013214 bile acid malabsorption, primary OMIM:613291 MONDO:equivalentTo bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 OMIM:613327 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy OMIMPS:613339 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0013234 hypokalemic periodic paralysis, type 2 OMIM:613345 MONDO:equivalentTo hypokalemic periodic paralysis, iia 2 semapv:UnspecifiedMatching MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 OMIM:613387 MONDO:equivalentTo fatty liver disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013311 ectodermal dysplasia-syndactyly syndrome OMIMPS:613573 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0013360 brachyolmia, Maroteaux type OMIM:613678 MONDO:equivalentTo brachyolmia iia 2 semapv:UnspecifiedMatching MONDO:0013374 supernumerary der(22)t(8;22) syndrome OMIM:613700 MONDO:equivalentTo supernumerary der(22)t(8 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q OMIM:613723 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:UnspecifiedMatching +MONDO:0013464 episodic ataxia type 5 OMIM:613855 MONDO:equivalentTo episodic ataxia, iia 5 semapv:UnspecifiedMatching MONDO:0013476 hypertrophic cardiomyopathy 19 OMIM:613875 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013586 obsolete Chitotriosidase deficiency OMIM:614122 MONDO:equivalentTo chitotriosidase deficiency semapv:UnspecifiedMatching +MONDO:0013590 Stickler syndrome, type 4 OMIM:614134 MONDO:equivalentTo stickler syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 OMIM:614157 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome OMIM:614192 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0013619 nephrotic syndrome, type 6 OMIM:614196 MONDO:equivalentTo nephrotic syndrome, iia 6 semapv:UnspecifiedMatching +MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome OMIM:614199 MONDO:equivalentTo nephrotic syndrome, iia 5, with or without ocular abnormalities semapv:UnspecifiedMatching +MONDO:0013627 3M syndrome 3 OMIM:614205 MONDO:equivalentTo three m syndrome 3 semapv:UnspecifiedMatching +MONDO:0013630 Meckel syndrome, type 9 OMIM:614209 MONDO:equivalentTo meckel syndrome, iia 9 semapv:UnspecifiedMatching +MONDO:0013666 Stickler syndrome, type 5 OMIM:614284 MONDO:equivalentTo stickler syndrome, iia 5 semapv:UnspecifiedMatching +MONDO:0013686 distal myopathy, Tateyama type OMIM:614321 MONDO:equivalentTo myopathy, distal, tateyama iia semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome OMIM:614327 MONDO:equivalentTo tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 4 OMIM:614337 MONDO:equivalentTo lynch syndrome 4 semapv:UnspecifiedMatching MONDO:0013701 obsolete MRT32 OMIM:614339 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -408,8 +462,12 @@ MONDO:0013736 myopathy, centronuclear, 3 OMIM:614408 MONDO:equivalentTo semapv: MONDO:0013743 autosomal systemic lupus erythematosus type 16 OMIM:614420 MONDO:equivalentTo systemic lupus erythematosus 16 semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P OMIM:608591 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:UnspecifiedMatching +MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type OMIM:614557 MONDO:equivalentTo ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:UnspecifiedMatching +MONDO:0013815 FGFR2-related bent bone dysplasia OMIM:614592 MONDO:equivalentTo bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching +MONDO:0013853 pontocerebellar hypoplasia type 1B OMIM:614678 MONDO:equivalentTo pontocerebellar hypoplasia, iia 1b semapv:UnspecifiedMatching MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes OMIM:614684 MONDO:equivalentTo hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis OMIM:614809 MONDO:equivalentTo c3 glomerulopathy 3 semapv:UnspecifiedMatching +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ OMIM:614857 MONDO:equivalentTo methylmalonic aciduria and homocystinuria, cblj iia semapv:UnspecifiedMatching MONDO:0013980 palmoplantar keratoderma, punctate type ib OMIM:614936 MONDO:equivalentTo palmoplantar keratoderma, punctate iia 1b semapv:UnspecifiedMatching MONDO:0013981 myoclonus, familial OMIMPS:614937 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 OMIM:615031 MONDO:equivalentTo neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay semapv:UnspecifiedMatching @@ -417,24 +475,50 @@ MONDO:0014017 autism, susceptibility to, 18 OMIM:615032 MONDO:equivalentTo intel MONDO:0014045 Cowden syndrome 3 OMIM:615106 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM:615119 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching +MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 OMIM:615158 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 OMIM:615159 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 4 semapv:UnspecifiedMatching +MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 OMIM:615160 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 5 semapv:UnspecifiedMatching +MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 OMIM:615219 MONDO:equivalentTo hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome OMIM:616964 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014090 polydactyly, postaxial, type A6 OMIM:615226 MONDO:equivalentTo polydactyly, postaxial, iia a6 semapv:UnspecifiedMatching +MONDO:0014099 nephrotic syndrome, type 8 OMIM:615244 MONDO:equivalentTo nephrotic syndrome, iia 8 semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures OMIM:615290 MONDO:equivalentTo spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014128 TCF12-related craniosynostosis OMIM:615314 MONDO:equivalentTo craniosynostosis 3 semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 OMIM:615356 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 18 semapv:UnspecifiedMatching +MONDO:0014164 Meckel syndrome, type 11 OMIM:615397 MONDO:equivalentTo meckel syndrome, iia 11 semapv:UnspecifiedMatching +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency OMIM:615401 MONDO:equivalentTo immunodeficiency 8 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014186 retinitis pigmentosa with or without situs inversus OMIM:615434 MONDO:equivalentTo retinitis pigmentosa 82 with or without situs inversus semapv:UnspecifiedMatching +MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 OMIM:615453 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 6 semapv:UnspecifiedMatching +MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506 MONDO:equivalentTo telangiectasia, hereditary hemorrhagic, iia 5 semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome OMIM:208080 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014257 nephrotic syndrome, type 9 OMIM:615573 MONDO:equivalentTo nephrotic syndrome, iia 9 semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation OMIM:615596 MONDO:equivalentTo congenital disorder of glycosylation, iia iw, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014272 palmoplantar keratoderma, Nagashima type OMIM:615598 MONDO:equivalentTo palmoplantar keratoderma, nagashima iia semapv:UnspecifiedMatching MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching +MONDO:0014331 Moyamoya disease with early-onset achalasia OMIM:615750 MONDO:equivalentTo moyamoya disease 6 with or without achalasia semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 OMIM:216920 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 OMIM:615824 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 7 semapv:UnspecifiedMatching +MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 OMIM:615838 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 8 semapv:UnspecifiedMatching +MONDO:0014370 pontocerebellar hypoplasia type 2E OMIM:615851 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2e semapv:UnspecifiedMatching +MONDO:0014373 nephrotic syndrome, type 10 OMIM:615861 MONDO:equivalentTo nephrotic syndrome, iia 10 semapv:UnspecifiedMatching +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy OMIM:615863 MONDO:equivalentTo diarrhea 7, protein-losing enteropathy iia semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D OMIM:615947 MONDO:equivalentTo hyperlipoproteinemia, iia 1d semapv:UnspecifiedMatching MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein OMIM:615969 MONDO:equivalentTo alpha-fetoprotein deficiency semapv:UnspecifiedMatching MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein OMIM:615970 MONDO:equivalentTo alpha-fetoprotein, hereditary persistence of semapv:UnspecifiedMatching MONDO:0014468 congenital myasthenic syndrome 7 OMIM:616040 MONDO:equivalentTo myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency OMIMPS:604273 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014476 episodic ataxia type 8 OMIM:616055 MONDO:equivalentTo episodic ataxia, iia 8 semapv:UnspecifiedMatching +MONDO:0014479 porokeratosis 8, disseminated superficial actinic type OMIM:616063 MONDO:equivalentTo porokeratosis 8, disseminated superficial actinic iia semapv:UnspecifiedMatching MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 OMIM:616087 MONDO:equivalentTo iia 2 diabetes 5 semapv:UnspecifiedMatching +MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 OMIM:616111 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 9 semapv:UnspecifiedMatching +MONDO:0014508 vitelliform macular dystrophy 4 OMIM:616151 MONDO:equivalentTo macular dystrophy, vitelliform, 4 semapv:UnspecifiedMatching +MONDO:0014509 vitelliform macular dystrophy 5 OMIM:616152 MONDO:equivalentTo macular dystrophy, vitelliform, 5 semapv:UnspecifiedMatching MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation OMIM:616158 MONDO:equivalentTo neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties semapv:UnspecifiedMatching +MONDO:0014531 amyotrophic lateral sclerosis type 22 OMIM:616208 MONDO:equivalentTo amyotrophic lateral sclerosis 22 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency OMIM:616281 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:UnspecifiedMatching MONDO:0014631 hypomagnesemia, seizures, and intellectual disability OMIMPS:616418 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014651 acrofacial dysostosis Cincinnati type OMIM:616462 MONDO:equivalentTo acrofacial dysostosis, cincinnati iia semapv:UnspecifiedMatching MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy OMIM:616487 MONDO:equivalentTo epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive semapv:UnspecifiedMatching MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM:616500 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 9 semapv:UnspecifiedMatching MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM:616501 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 13 semapv:UnspecifiedMatching @@ -452,6 +536,7 @@ MONDO:0014783 obsolete preimplantation embryonic lethality 1 OMIM:616814 MONDO:e MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome OMIM:616816 MONDO:equivalentTo hypotonia, infantile, with psychomotor retardation semapv:UnspecifiedMatching MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W OMIM:616827 MONDO:equivalentTo muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue semapv:UnspecifiedMatching MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 OMIM:616840 MONDO:equivalentTo parkinson disease 23, autosomal recessive early-onset semapv:UnspecifiedMatching +MONDO:0014800 progressive scapulohumeroperoneal distal myopathy OMIM:616852 MONDO:equivalentTo myopathy, scapulohumeroperoneal semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome OMIM:616859 MONDO:equivalentTo spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 OMIM:616860 MONDO:equivalentTo anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 OMIM:271225 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -460,6 +545,7 @@ MONDO:0014810 pancytopenia due to IKZF1 mutations OMIM:616873 MONDO:equivalentTo MONDO:0014815 intellectual disability, autosomal recessive 52 OMIM:616887 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 52 semapv:UnspecifiedMatching MONDO:0014817 nephrotic syndrome, type 12 OMIM:616892 MONDO:equivalentTo nephrotic syndrome, iia 12 semapv:UnspecifiedMatching MONDO:0014818 nephrotic syndrome, type 13 OMIM:616893 MONDO:equivalentTo nephrotic syndrome, iia 13 semapv:UnspecifiedMatching +MONDO:0014821 complex lethal osteochondrodysplasia OMIM:616897 MONDO:equivalentTo osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia semapv:UnspecifiedMatching MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO:0014832 intellectual disability, autosomal recessive 53 OMIM:616917 MONDO:equivalentTo neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -471,6 +557,7 @@ MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormaliti MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y OMIM:617072 MONDO:equivalentTo myopathy, autosomal recessive, with rigid spine and distal joint contractures semapv:UnspecifiedMatching MONDO:0014904 congenital disorder of glycosylation, type IAA OMIM:617082 MONDO:equivalentTo congenital disorder of glycosylation, iia iaa semapv:UnspecifiedMatching MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy OMIM:617093 MONDO:equivalentTo growth retardation, impaired intellectual development, hypotonia, and hepatopathy semapv:UnspecifiedMatching +MONDO:0014922 myofibrillar myopathy 7 OMIM:617114 MONDO:equivalentTo myopathy, myofibrillar, 7 semapv:UnspecifiedMatching MONDO:0014930 intellectual disability, autosomal recessive 56 OMIM:617125 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 56 semapv:UnspecifiedMatching MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM:617164 MONDO:equivalentTo short stature-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0014951 Sotos syndrome 3 OMIM:617169 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 74 semapv:UnspecifiedMatching @@ -480,8 +567,10 @@ MONDO:0014969 isolated sedoheptulokinase deficiency OMIM:617213 MONDO:equivalent MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 OMIM:617232 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:equivalentTo preimplantation embryonic lethality 2 semapv:UnspecifiedMatching MONDO:0014980 cone-rod dystrophy and hearing loss OMIMPS:617236 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0014993 myofibrillar myopathy 8 OMIM:617258 MONDO:equivalentTo myopathy, myofibrillar, 8 semapv:UnspecifiedMatching MONDO:0014996 intellectual disability, autosomal recessive 58 OMIM:617270 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 58 semapv:UnspecifiedMatching MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss OMIM:617294 MONDO:equivalentTo epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy semapv:UnspecifiedMatching +MONDO:0015008 amelogenesis imperfecta, type 1J OMIM:617297 MONDO:equivalentTo amelogenesis imperfecta, iia 1j semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders OMIM:617303 MONDO:equivalentTo mucopolysaccharidosis-plus syndrome semapv:UnspecifiedMatching MONDO:0015020 intellectual disability, autosomal recessive 59 OMIM:617323 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 59 semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant OMIMPS:603511 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -519,9 +608,9 @@ MONDO:0015797 UV-sensitive syndrome OMIMPS:600630 MONDO:equivalentTo semapv:Uns MONDO:0015799 Smith-McCort dysplasia OMIMPS:607326 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis OMIMPS:179800 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia OMIMPS:113700 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:600208 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:605249 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:600208 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia OMIMPS:305620 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia OMIMPS:601495 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy OMIMPS:120970 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -569,6 +658,7 @@ MONDO:0016763 spondylometaphyseal dysplasia OMIMPS:184255 MONDO:equivalentTo se MONDO:0016817 Meier-Gorlin syndrome OMIMPS:224690 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease OMIMPS:252350 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis OMIMPS:228550 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome OMIM:251950 MONDO:equivalentTo mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria OMIMPS:277400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy OMIMPS:310300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome OMIMPS:208085 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -733,6 +823,7 @@ MONDO:0020616 obsolete blood group, mn OMIM:111300 MONDO:equivalentTo blood grou MONDO:0020617 obsolete blood group--ok OMIM:111380 MONDO:equivalentTo blood group--ok semapv:UnspecifiedMatching MONDO:0020618 obsolete blood group--private systems OMIM:111500 MONDO:equivalentTo blood group--private systems semapv:UnspecifiedMatching MONDO:0020619 obsolete blood group, langereis system OMIM:111600 MONDO:equivalentTo blood group, langereis system semapv:UnspecifiedMatching +MONDO:0020620 obsolete blood group, ss OMIM:111740 MONDO:equivalentTo blood group, ss semapv:UnspecifiedMatching MONDO:0020621 obsolete blood group--scianna system OMIM:111750 MONDO:equivalentTo blood group--scianna system semapv:UnspecifiedMatching MONDO:0020622 obsolete blood group--stoltzfus system OMIM:111800 MONDO:equivalentTo blood group--stoltzfus system semapv:UnspecifiedMatching MONDO:0020625 obsolete blood group--wright antigen OMIM:112050 MONDO:equivalentTo blood group--wright antigen semapv:UnspecifiedMatching @@ -749,6 +840,7 @@ MONDO:0020768 X-linked deafness OMIMPS:304500 MONDO:equivalentTo semapv:Unspeci MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0020774 Menke-Hennekam syndrome OMIMPS:618332 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0020786 obsolete short sleep, familial natural, 2 OMIM:618591 MONDO:equivalentTo short sleep, familial natural, 2 semapv:UnspecifiedMatching +MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 OMIM:618314 MONDO:equivalentTo hypomagnesemia, seizures, and impaired intellectual development 2 semapv:UnspecifiedMatching MONDO:0020811 mitochondrial complex III deficiency, nuclear type OMIMPS:124000 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome OMIMPS:617660 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0020835 methemoglobinemia, alpha type OMIM:617973 MONDO:equivalentTo methemoglobinemia, alpha iia semapv:UnspecifiedMatching @@ -788,10 +880,15 @@ MONDO:0025193 oculopharyngodistal myopathy OMIMPS:164310 MONDO:equivalentTo sem MONDO:0025353 developmental and epileptic encephalopathy, 90 OMIM:301058 MONDO:equivalentTo developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching MONDO:0025445 Wieacker-Wolff syndrome (spectrum) OMIMPS:314580 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0026726 nephrotic syndrome, type 20 OMIM:301028 MONDO:equivalentTo nephrotic syndrome, iia 20 semapv:UnspecifiedMatching +MONDO:0026729 congenital disorder of glycosylation, type ICC OMIM:301031 MONDO:equivalentTo congenital disorder of glycosylation, iia icc semapv:UnspecifiedMatching MONDO:0026768 obsolete warfarin sensitivity, X-linked OMIM:301052 MONDO:equivalentTo warfarin sensitivity, X-linked semapv:UnspecifiedMatching MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects OMIM:301044 MONDO:equivalentTo developmental and epileptic encephalopathy 85 with or without midline brain defects semapv:UnspecifiedMatching MONDO:0027416 obsolete retinal cone dystrophy 2 OMIM:601251 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027462 autosomal recessive cutis laxa type 2C OMIM:617402 MONDO:equivalentTo cutis laxa, autosomal recessive, iia 2c semapv:UnspecifiedMatching +MONDO:0029130 polydactyly, postaxial, type A8 OMIM:618123 MONDO:equivalentTo polydactyly, postaxial, iia a8 semapv:UnspecifiedMatching MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 OMIM:618143 MONDO:equivalentTo developmental and epileptic encephalopathy 95 semapv:UnspecifiedMatching +MONDO:0029141 Usher syndrome, type 4 OMIM:618144 MONDO:equivalentTo usher syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0030043 congenital disorder of glycosylation, type iit OMIM:618885 MONDO:equivalentTo congenital disorder of glycosylation, iia iit semapv:UnspecifiedMatching MONDO:0030064 episodic ataxia, type 9 OMIM:618924 MONDO:equivalentTo episodic ataxia, iia 9 semapv:UnspecifiedMatching MONDO:0030089 diabetes mellitus, permanent neonatal 4 OMIM:618858 MONDO:equivalentTo diabetes mellitus, permanent neonatal, 4 semapv:UnspecifiedMatching @@ -810,6 +907,7 @@ MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 OMIM:619758 MO MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 OMIM:619759 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 2 semapv:UnspecifiedMatching MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome OMIMPS:243150 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0030858 immunodeficiency 75 OMIM:619126 MONDO:equivalentTo immunodeficiency 75 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0030860 neuronopathy, distal hereditary motor, type 5C OMIM:619112 MONDO:equivalentTo neuronopathy, distal hereditary motor, iia 5c semapv:UnspecifiedMatching MONDO:0030890 pontocerebellar hypoplasia, IIA 17 OMIM:619909 MONDO:equivalentTo pontocerebellar hypoplasia, iia 17 semapv:UnspecifiedMatching MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 OMIM:619170 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 36 semapv:UnspecifiedMatching @@ -821,19 +919,10 @@ MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 OMIM:619224 MON MONDO:0030978 endove syndrome, limb-only type OMIM:619217 MONDO:equivalentTo endove syndrome, limb-only iia semapv:UnspecifiedMatching MONDO:0030979 endove syndrome, limb-brain type OMIM:619218 MONDO:equivalentTo endove syndrome, limb-brain iia semapv:UnspecifiedMatching MONDO:0030982 sulfide quinone oxidoreductase deficiency OMIM:619221 MONDO:equivalentTo sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching -MONDO:0030983 Waardenburg syndrome, IIa 2F OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f semapv:UnspecifiedMatching -MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 OMIM:619950 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 OMIM:619272 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 37 semapv:UnspecifiedMatching -MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 OMIM:619951 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 OMIM:619263 MONDO:equivalentTo nephrotic syndrome, iia 24 semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations OMIMPS:116860 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031045 arthrogryposis, distal, IIa 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 semapv:UnspecifiedMatching -MONDO:0031047 stickler syndrome, IIa 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 semapv:UnspecifiedMatching -MONDO:0031061 nephrotic syndrome, IIa 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 semapv:UnspecifiedMatching -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:UnspecifiedMatching -MONDO:0031084 amelogenesis imperfecta, IIa 1K OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k semapv:UnspecifiedMatching MONDO:0031115 dyskinesia with orofacial involvement OMIMPS:606703 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031166 macular dystrophy, retinal OMIMPS:136550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031169 odontochondrodysplasia OMIMPS:184260 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031178 monosomy 7 myelodysplasia and leukemia syndrome OMIMPS:252270 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031199 inherited interstitial lung disease OMIMPS:619611 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -841,31 +930,42 @@ MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome OMIMPS:619720 MONDO:equ MONDO:0031213 restrictive dermopathy OMIMPS:275210 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome OMIMPS:276300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031230 mitochondrial complex II deficiency, nuclear type OMIMPS:252011 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031240 familial panic disorder OMIMPS:167870 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031280 Stuve-Wiedemann syndrome OMIMPS:601559 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031323 cardiac valvular defect OMIMPS:212093 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation OMIMPS:615273 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031384 autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031386 cardioacrofacial dysplasia OMIMPS:619142 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome OMIMPS:619758 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome OMIMPS:614594 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031422 familial mucolipidosis OMIMPS:256550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031432 thyroid hormone metabolism, abnormal OMIMPS:609698 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031447 macrothrombocytopenia, isolated OMIMPS:613112 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031520 familial severe combined immunodeficiency OMIMPS:601457 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031615 familial bent bone dysplasia syndrome OMIMPS:614592 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0031646 Braddock-Carey syndrome OMIMPS:619980 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 OMIM:618160 MONDO:equivalentTo pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching +MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type OMIM:618162 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, krakow iia semapv:UnspecifiedMatching +MONDO:0032580 nephrotic syndrome, type 17 OMIM:618176 MONDO:equivalentTo nephrotic syndrome, iia 17 semapv:UnspecifiedMatching +MONDO:0032581 nephrotic syndrome, type 18 OMIM:618177 MONDO:equivalentTo nephrotic syndrome, iia 18 semapv:UnspecifiedMatching +MONDO:0032582 nephrotic syndrome, type 19 OMIM:618178 MONDO:equivalentTo nephrotic syndrome, iia 19 semapv:UnspecifiedMatching +MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis OMIM:618180 MONDO:equivalentTo ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis semapv:UnspecifiedMatching +MONDO:0032586 diarrhea 10, protein-losing enteropathy type OMIM:618183 MONDO:equivalentTo diarrhea 10, protein-losing enteropathy iia semapv:UnspecifiedMatching +MONDO:0032603 polydactyly, postaxial, type A9 OMIM:618219 MONDO:equivalentTo polydactyly, postaxial, iia a9 semapv:UnspecifiedMatching MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type OMIM:618484 MONDO:equivalentTo arthrogryposis multiplex congenita 3, myogenic iia semapv:UnspecifiedMatching +MONDO:0032785 polydactyly, postaxial, type a10 OMIM:618498 MONDO:equivalentTo polydactyly, postaxial, iia a10 semapv:UnspecifiedMatching MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy OMIM:618511 MONDO:equivalentTo neuropathy, hereditary motor and sensory, iia vic, with optic atrophy semapv:UnspecifiedMatching MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive OMIM:618523 MONDO:equivalentTo hyper-ige recurrent infection syndrome 4b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032841 Usher syndrome, type 1M OMIM:618632 MONDO:equivalentTo usher syndrome, iia 1m semapv:UnspecifiedMatching +MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type OMIM:618728 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, isidor-toutain iia semapv:UnspecifiedMatching +MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures OMIM:618733 MONDO:equivalentTo neuromuscular oculoauditory syndrome semapv:UnspecifiedMatching +MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 OMIM:618775 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 10 semapv:UnspecifiedMatching +MONDO:0032941 myopia 27 OMIM:618827 MONDO:equivalentTo myopia 27, autosomal dominant semapv:UnspecifiedMatching MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0033203 nephrotic syndrome 14 OMIM:617575 MONDO:equivalentTo nephrotic syndrome, iia 14 semapv:UnspecifiedMatching MONDO:0033211 diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0033262 nephrotic syndrome 15 OMIM:617609 MONDO:equivalentTo nephrotic syndrome, iia 15 semapv:UnspecifiedMatching +MONDO:0033280 nephrotic syndrome 16 OMIM:617783 MONDO:equivalentTo nephrotic syndrome, iia 16 semapv:UnspecifiedMatching MONDO:0033304 nonsyndromic deafness, Y-linked OMIMPS:400043 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033352 neuropathy, congenital hypomelinating OMIMPS:605253 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033373 developmental and epileptic encephalopathy, 64 OMIM:618004 MONDO:equivalentTo developmental and epileptic encephalopathy 64 semapv:UnspecifiedMatching MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 OMIM:618979 MONDO:equivalentTo high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching +MONDO:0033551 immunodeficiency 72 with autoinflammation OMIM:618982 MONDO:equivalentTo immunodeficiency 72 with autoinflammation and lymphoproliferation semapv:UnspecifiedMatching MONDO:0033552 obsolete blood group, lewis system OMIM:618983 MONDO:equivalentTo blood group, lewis system semapv:UnspecifiedMatching MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 OMIM:618998 MONDO:equivalentTo immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus OMIM:619030 MONDO:equivalentTo skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching @@ -889,7 +989,7 @@ MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 OMIM:619064 MO MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 OMIM:619065 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 21 semapv:UnspecifiedMatching MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome OMIM:618218 MONDO:equivalentTo baker-gordon syndrome semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type OMIMPS:220110 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers OMIM:618414 MONDO:equivalentTo myopathy, congenital, with fast-twitch (type ii) fiber atrophy semapv:UnspecifiedMatching +MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers OMIM:618414 MONDO:equivalentTo congenital myopathy 14 semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy OMIMPS:165500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia OMIMPS:128200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0044203 foveal hypoplasia OMIMPS:136520 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -899,6 +999,7 @@ MONDO:0044219 obsolete blood group, duffy system OMIM:110700 MONDO:equivalentTo MONDO:0044220 obsolete blood group, 1 system OMIM:110800 MONDO:equivalentTo blood group, 1 system semapv:UnspecifiedMatching MONDO:0044221 obsolete blood group--lutheran inhibitor OMIM:111150 MONDO:equivalentTo blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO:0044222 obsolete blood group, p1pk system OMIM:111400 MONDO:equivalentTo blood group, p1pk system semapv:UnspecifiedMatching +MONDO:0044223 obsolete radin blood group antigen OMIM:111620 MONDO:equivalentTo radin blood group antigen semapv:UnspecifiedMatching MONDO:0044224 obsolete apocrine gland secretion, variation 1n OMIM:117800 MONDO:equivalentTo apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO:0044228 obsolete eegbqtl OMIM:130190 MONDO:equivalentTo electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO:0044234 obsolete hrm2 OMIM:139450 MONDO:equivalentTo hair morphology 2 semapv:UnspecifiedMatching @@ -928,9 +1029,16 @@ MONDO:0044318 intellectual developmental disorder with gastrointestinal difficul MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome OMIM:617193 MONDO:equivalentTo encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever OMIM:614674 MONDO:equivalentTo periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 OMIM:617248 MONDO:equivalentTo 3-methylglutaconic aciduria, iia 8 semapv:UnspecifiedMatching +MONDO:0044724 3-methylglutaconic aciduria type 9 OMIM:617698 MONDO:equivalentTo 3-methylglutaconic aciduria, iia 9 semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia OMIMPS:128100 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM:617542 MONDO:equivalentTo gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:UnspecifiedMatching +MONDO:0054836 parkinsonism-dystonia, infantile, 2 OMIM:618049 MONDO:equivalentTo parkinsonism-dystonia 2, infantile-onset semapv:UnspecifiedMatching +MONDO:0054838 cardiomyopathy, familial hypertrophic 27 OMIM:618052 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 27 semapv:UnspecifiedMatching MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect OMIMPS:614388 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0060550 polydactyly, postaxial, type a7 OMIM:617642 MONDO:equivalentTo polydactyly, postaxial, iia a7 semapv:UnspecifiedMatching MONDO:0060593 obsolete actn3 deficiency OMIM:617749 MONDO:equivalentTo actn3 deficiency semapv:UnspecifiedMatching +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language OMIM:617804 MONDO:equivalentTo neurodevelopmental disorder with variable motor and language impairment semapv:UnspecifiedMatching +MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type OMIM:617974 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, di rocco iia semapv:UnspecifiedMatching MONDO:0060720 congenital disorder of glycosylation with defective fucosylation OMIMPS:618005 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100062 developmental and epileptic encephalopathy OMIMPS:308350 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100157 Imerslund-Grasbeck syndrome type 2 OMIM:618882 MONDO:equivalentTo imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv index 0fd7a2e0..51dcd315 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv @@ -1,6 +1,9 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 MONDO:equivalentTo microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching +MONDO:0007044 acrodysostosis 1 with or without hormone resistance OMIM:101800 MONDO:equivalentTo acrodysostosis 1 with or without hormone resistance semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to OMIM:102800 MONDO:equivalentTo adenosine triphosphatase deficiency, anemia due to semapv:UnspecifiedMatching +MONDO:0007087 alternating hemiplegia of childhood 1 OMIM:104290 MONDO:equivalentTo alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract OMIM:106230 MONDO:equivalentTo aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness OMIM:108760 MONDO:equivalentTo atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation 1N OMIM:108980 MONDO:equivalentTo pr interval, variation 1n semapv:UnspecifiedMatching @@ -11,10 +14,13 @@ MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipopro MONDO:0007344 cluster headache, familial OMIM:119915 MONDO:equivalentTo cluster headache, familial semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic OMIM:120450 MONDO:equivalentTo comedones, familial dyskeratotic semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts OMIM:121390 MONDO:equivalentTo cornea guttata with anterior polar cataracts semapv:UnspecifiedMatching +MONDO:0007372 cornea plana 1, autosomal dominant OMIM:121400 MONDO:equivalentTo cornea plana 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007391 coxa vara OMIM:122750 MONDO:equivalentTo coxa vara semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural OMIM:124700 MONDO:equivalentTo deafness, mid-tone neural semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless OMIM:125540 MONDO:equivalentTo dermal ridges, patternless semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 OMIM:126850 MONDO:equivalentTo duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching +MONDO:0007533 elliptocytosis 2 OMIM:130600 MONDO:equivalentTo elliptocytosis 2 semapv:UnspecifiedMatching +MONDO:0007541 endometriosis, susceptibility to, 1 OMIM:131200 MONDO:equivalentTo endometriosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe OMIM:131760 MONDO:equivalentTo epidermolysis bullosa simplex 1a, generalized severe semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate OMIM:131900 MONDO:equivalentTo epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 OMIM:136540 MONDO:equivalentTo fragile site 10q23 semapv:UnspecifiedMatching @@ -22,10 +28,14 @@ MONDO:0007653 genochondromatosis OMIM:137360 MONDO:equivalentTo genochondromatos MONDO:0007657 giant neutrophil leukocytes OMIM:137500 MONDO:equivalentTo giant neutrophil leukocytes semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain OMIM:142309 MONDO:equivalentTo hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera OMIM:145800 MONDO:equivalentTo hypertrophia musculorum vera semapv:UnspecifiedMatching +MONDO:0007802 hypospadias 3, autosomal OMIM:146450 MONDO:equivalentTo hypospadias 3, autosomal semapv:UnspecifiedMatching MONDO:0007847 keloid formation OMIM:148100 MONDO:equivalentTo keloid formation semapv:UnspecifiedMatching +MONDO:0007851 keratoconus 1 OMIM:148300 MONDO:equivalentTo keratoconus 1 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome OMIM:150550 MONDO:equivalentTo periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis OMIM:155000 MONDO:equivalentTo maxillofacial dysostosis semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant OMIM:155350 MONDO:equivalentTo megalencephaly, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0008001 milia, multiple eruptive OMIM:157400 MONDO:equivalentTo milia, multiple eruptive semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial OMIM:158400 MONDO:equivalentTo muscle cramps, familial semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries OMIM:159050 MONDO:equivalentTo muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset OMIM:160300 MONDO:equivalentTo myopathy, distal, infantile-onset semapv:UnspecifiedMatching @@ -35,24 +45,34 @@ MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) OMIM:162350 MONDO:e MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex OMIM:162370 MONDO:equivalentTo neuropathy, congenital, with arthrogryposis multiplex semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical OMIM:164150 MONDO:equivalentTo nystagmus, hereditary vertical semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities OMIM:165510 MONDO:equivalentTo optic atrophy 13 with retinal and foveal abnormalities semapv:UnspecifiedMatching +MONDO:0008164 otosclerosis 1 OMIM:166800 MONDO:equivalentTo otosclerosis 1 semapv:UnspecifiedMatching +MONDO:0008176 Paget disease of bone 3 OMIM:167250 MONDO:equivalentTo paget disease of bone 3 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of OMIM:169000 MONDO:equivalentTo patella, familial recurrent dislocation of semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia OMIM:169545 MONDO:equivalentTo pelvic lipomatosis with crossed renal ectopia semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption OMIM:172900 MONDO:equivalentTo pigmented purpuric eruption semapv:UnspecifiedMatching +MONDO:0008328 glaucoma 1, open angle, P OMIM:177700 MONDO:equivalentTo glaucoma 1, open angle, p semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix OMIM:177750 MONDO:equivalentTo pseudomonilethrix semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia OMIM:178350 MONDO:equivalentTo pubic bone dysplasia semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of OMIM:179200 MONDO:equivalentTo radial heads, posterior dislocation of semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy OMIM:183050 MONDO:equivalentTo spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0008468 spondyloarthropathy, susceptibility to, 2 OMIM:183840 MONDO:equivalentTo spondyloarthropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant OMIM:184100 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis OMIM:185020 MONDO:equivalentTo cryohydrocytosis semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial OMIM:185200 MONDO:equivalentTo striae distensae, familial semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal OMIM:186890 MONDO:equivalentTo tear protein, anodal semapv:UnspecifiedMatching +MONDO:0008566 thyroid cancer, nonmedullary, 2 OMIM:188470 MONDO:equivalentTo thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching +MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 OMIM:188580 MONDO:equivalentTo thyrotoxic periodic paralysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial OMIM:188800 MONDO:equivalentTo tibial torsion, bilateral medial semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis OMIM:189700 MONDO:equivalentTo torus palatinus and torus mandibularis semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable OMIM:190600 MONDO:equivalentTo triphalangeal thumb, nonopposable semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double OMIM:191550 MONDO:equivalentTo ureter, bifid or double semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis OMIM:192900 MONDO:equivalentTo vertebral hypoplasia with lumbar kyphosis semapv:UnspecifiedMatching +MONDO:0008653 vesicoureteral reflux 1 OMIM:193000 MONDO:equivalentTo vesicoureteral reflux 1 semapv:UnspecifiedMatching +MONDO:0008680 Wilms tumor 2 OMIM:194071 MONDO:equivalentTo wilms tumor 2 semapv:UnspecifiedMatching +MONDO:0008683 Wilms tumor 3 OMIM:194090 MONDO:equivalentTo wilms tumor 3 semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) OMIM:204300 MONDO:equivalentTo ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of OMIM:204800 MONDO:equivalentTo amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching +MONDO:0008791 anencephaly 1 OMIM:206500 MONDO:equivalentTo anencephaly 1 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile OMIM:208060 MONDO:equivalentTo arteriosclerosis, severe juvenile semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy OMIM:208750 MONDO:equivalentTo ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster OMIM:209100 MONDO:equivalentTo atonic-astatic syndrome of foerster semapv:UnspecifiedMatching @@ -61,12 +81,17 @@ MONDO:0008920 carnitine deficiency, myopathic OMIM:212160 MONDO:equivalentTo car MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules OMIM:215520 MONDO:equivalentTo ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive OMIM:216820 MONDO:equivalentTo coloboma, ocular, autosomal recessive semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of OMIM:218100 MONDO:equivalentTo cranial nerves, congenital paresis of semapv:UnspecifiedMatching +MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive OMIM:218400 MONDO:equivalentTo craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009103 diaphragmatic hernia 2 OMIM:222400 MONDO:equivalentTo diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance OMIM:229500 MONDO:equivalentTo fructose and galactose intolerance semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib OMIM:232220 MONDO:equivalentTo glycogen storage disease ib semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect OMIM:235830 MONDO:equivalentTo histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary OMIM:237800 MONDO:equivalentTo hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to OMIM:245300 MONDO:equivalentTo kuru, susceptibility to semapv:UnspecifiedMatching +MONDO:0009518 leprosy, susceptibility to, 3 OMIM:246300 MONDO:equivalentTo leprosy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 MONDO:equivalentTo lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:UnspecifiedMatching +MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive OMIM:248000 MONDO:equivalentTo macrocephaly/megalencephaly syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM:251750 MONDO:equivalentTo microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness OMIM:251800 MONDO:equivalentTo microtia with meatal atresia and conductive deafness semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract OMIM:253240 MONDO:equivalentTo mucus inspissation of respiratory tract semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell OMIM:254150 MONDO:equivalentTo musk, inability to smell semapv:UnspecifiedMatching @@ -92,18 +117,31 @@ MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency OMIM:30 MONDO:0010267 episodic muscle weakness, X-linked OMIM:300211 MONDO:equivalentTo episodic muscle weakness, X-linked semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 OMIM:300228 MONDO:equivalentTo testicular germ cell tumor 1 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 OMIM:300273 MONDO:equivalentTo goiter, multinodular 2 semapv:UnspecifiedMatching +MONDO:0010297 FG syndrome 2 OMIM:300321 MONDO:equivalentTo fg syndrome 2 semapv:UnspecifiedMatching +MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367 MONDO:equivalentTo thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching +MONDO:0010316 FG syndrome 3 OMIM:300406 MONDO:equivalentTo fg syndrome 3 semapv:UnspecifiedMatching +MONDO:0010321 autism, susceptibility to, X-linked 1 OMIM:300425 MONDO:equivalentTo autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 OMIM:300495 MONDO:equivalentTo autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010342 autism, susceptibility to, X-linked 3 OMIM:300496 MONDO:equivalentTo autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 OMIM:300509 MONDO:equivalentTo dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0010350 premature ovarian failure 2A OMIM:300511 MONDO:equivalentTo premature ovarian failure 2a semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive OMIM:300554 MONDO:equivalentTo hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching +MONDO:0010366 FG syndrome 5 OMIM:300581 MONDO:equivalentTo fg syndrome 5 semapv:UnspecifiedMatching +MONDO:0010373 premature ovarian failure 2B OMIM:300604 MONDO:equivalentTo premature ovarian failure 2b semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked OMIM:300613 MONDO:equivalentTo myopia 13, X-linked semapv:UnspecifiedMatching +MONDO:0010384 hypospadias 1, X-linked OMIM:300633 MONDO:equivalentTo hypospadias 1, X-linked semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked OMIM:300652 MONDO:equivalentTo angioma serpiginosum, X-linked semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 OMIM:300704 MONDO:equivalentTo prostate cancer, hereditary, X-linked 2 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 OMIM:300710 MONDO:equivalentTo alopecia, androgenetic, 2 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 OMIM:300711 MONDO:equivalentTo pyloric stenosis, infantile hypertrophic, 4 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities OMIM:300719 MONDO:equivalentTo deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:UnspecifiedMatching +MONDO:0010423 hypospadias 2, X-linked OMIM:300758 MONDO:equivalentTo hypospadias 2, X-linked semapv:UnspecifiedMatching MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 OMIM:300809 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome OMIM:300815 MONDO:equivalentTo chromosome xq28 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 OMIM:300818 MONDO:equivalentTo paroxysmal nocturnal hemoglobinuria 1 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification OMIM:300829 MONDO:equivalentTo cardiomyopathy, fatal fetal, due to myocardial calcification semapv:UnspecifiedMatching +MONDO:0010449 autism, susceptibility to, X-linked 5 OMIM:300847 MONDO:equivalentTo autism, susceptibility to, X-linked 5 semapv:UnspecifiedMatching +MONDO:0010456 renal cell carcinoma, Xp11-associated OMIM:300854 MONDO:equivalentTo renal cell carcinoma, xp11-associated semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency OMIM:300908 MONDO:equivalentTo anemia, nonspherocytic hemolytic, due to g6pd deficiency semapv:UnspecifiedMatching MONDO:0010628 immunoglobulin M, level of OMIM:308250 MONDO:equivalentTo immunoglobulin m, level of semapv:UnspecifiedMatching MONDO:0010629 impacted teeth, multiple OMIM:308280 MONDO:equivalentTo impacted teeth, multiple semapv:UnspecifiedMatching @@ -119,8 +157,10 @@ MONDO:0010781 ataxia and polyneuropathy, adult-onset OMIM:500010 MONDO:equivalen MONDO:0010791 myoglobinuria, recurrent OMIM:550500 MONDO:equivalentTo myoglobinuria, recurrent semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial OMIM:551200 MONDO:equivalentTo nephropathy, chronic tubulointerstitial semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial OMIM:556500 MONDO:equivalentTo parkinson disease, mitochondrial semapv:UnspecifiedMatching +MONDO:0010833 Hirschsprung disease, susceptibility to, 2 OMIM:600155 MONDO:equivalentTo hirschsprung disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010834 Hirschsprung disease, susceptibility to, 5 OMIM:600156 MONDO:equivalentTo hirschsprung disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms OMIM:600771 MONDO:equivalentTo dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching +MONDO:0010929 craniosynostosis 4 OMIM:600775 MONDO:equivalentTo craniosynostosis 4 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM:600795 MONDO:equivalentTo frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B OMIM:600975 MONDO:equivalentTo glaucoma 3, primary infantile, B semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive OMIM:601001 MONDO:equivalentTo epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching @@ -131,12 +171,18 @@ MONDO:0011130 sebaceous gland hyperplasia, familial presenile OMIM:601700 MONDO: MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 OMIM:601744 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive OMIM:601775 MONDO:equivalentTo megaloblastic anemia, folate-responsive semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A OMIM:601780 MONDO:equivalentTo ceroid lipofuscinosis, neuronal, 6a semapv:UnspecifiedMatching +MONDO:0011173 thrombocythemia 2 OMIM:601977 MONDO:equivalentTo thrombocythemia 2 semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial OMIM:602071 MONDO:equivalentTo broad terminal phalanges, familial semapv:UnspecifiedMatching +MONDO:0011183 Paget disease of bone 2, early-onset OMIM:602080 MONDO:equivalentTo paget disease of bone 2, early-onset semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney OMIM:602200 MONDO:equivalentTo ventriculomegaly with defects of the radius and kidney semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to OMIM:602247 MONDO:equivalentTo xanthomatosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss OMIM:602722 MONDO:equivalentTo renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant OMIM:603221 MONDO:equivalentTo myopia 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia OMIM:603386 MONDO:equivalentTo thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching +MONDO:0011370 Stargardt disease 4 OMIM:603786 MONDO:equivalentTo stargardt disease 4 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern OMIM:603802 MONDO:equivalentTo microcephaly with simplified gyral pattern semapv:UnspecifiedMatching MONDO:0011418 dyslexia, susceptibility to, 3 OMIM:604254 MONDO:equivalentTo dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011444 Duane retraction syndrome 2 OMIM:604356 MONDO:equivalentTo duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive OMIM:604431 MONDO:equivalentTo polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 OMIM:604757 MONDO:equivalentTo craniosynostosis 2 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology OMIM:605055 MONDO:equivalentTo alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:UnspecifiedMatching @@ -156,46 +202,65 @@ MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods OMIM:606 MONDO:0011741 Hirschsprung disease, susceptibility to, 6 OMIM:606874 MONDO:equivalentTo hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 OMIM:606875 MONDO:equivalentTo hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0011747 dyslexia, susceptibility to, 5 OMIM:606896 MONDO:equivalentTo dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0011770 aortic aneurysm, familial thoracic 2 OMIM:607087 MONDO:equivalentTo aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 OMIM:607248 MONDO:equivalentTo glioma susceptibility 4 semapv:UnspecifiedMatching +MONDO:0011805 asthma-related traits, susceptibility to, 1 OMIM:607277 MONDO:equivalentTo asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 OMIM:607279 MONDO:equivalentTo systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011820 scoliosis, isolated, susceptibility to, 2 OMIM:607354 MONDO:equivalentTo scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011845 migraine with or without aura, susceptibility to, 3 OMIM:607498 MONDO:equivalentTo migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011847 migraine without aura, susceptibility to, 4 OMIM:607501 MONDO:equivalentTo migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0011853 Camptosynpolydactyly, complex OMIM:607539 MONDO:equivalentTo camptosynpolydactyly, complex semapv:UnspecifiedMatching +MONDO:0011857 atrial fibrillation, familial, 3 OMIM:607554 MONDO:equivalentTo atrial fibrillation, familial, 3 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 OMIM:607572 MONDO:equivalentTo leprosy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis OMIM:607600 MONDO:equivalentTo epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy OMIM:607674 MONDO:equivalentTo cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:UnspecifiedMatching +MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 MONDO:equivalentTo parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0011931 ovarian cancer, susceptibility to, 1 OMIM:607893 MONDO:equivalentTo ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 OMIM:607949 MONDO:equivalentTo mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 OMIM:607965 MONDO:equivalentTo systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 OMIM:607966 MONDO:equivalentTo systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 OMIM:607967 MONDO:equivalentTo systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 OMIM:608035 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011956 autism, susceptibility to, 3 OMIM:608049 MONDO:equivalentTo autism, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency OMIM:608158 MONDO:equivalentTo coq-responsive oxphos deficiency semapv:UnspecifiedMatching +MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 OMIM:608173 MONDO:equivalentTo autoimmune thyroid disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 OMIM:608174 MONDO:equivalentTo autoimmune thyroid disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 OMIM:608175 MONDO:equivalentTo autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 OMIM:608176 MONDO:equivalentTo autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 OMIM:608244 MONDO:equivalentTo otosclerosis 3 semapv:UnspecifiedMatching MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 OMIM:608437 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012042 Hirschsprung disease, susceptibility to, 8 OMIM:608462 MONDO:equivalentTo hirschsprung disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant OMIM:608474 MONDO:equivalentTo myopia 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 OMIM:608526 MONDO:equivalentTo periodontitis, aggressive, 2 semapv:UnspecifiedMatching MONDO:0012057 legionnaire disease, susceptibility to OMIM:608556 MONDO:equivalentTo legionnaire disease, susceptibility to semapv:UnspecifiedMatching +MONDO:0012067 asthma-related traits, susceptibility to, 2 OMIM:608584 MONDO:equivalentTo asthma-related traits, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital OMIM:608585 MONDO:equivalentTo brachial palsy, familial congenital semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 OMIM:608586 MONDO:equivalentTo keratoconus 3 semapv:UnspecifiedMatching +MONDO:0012093 prostate cancer, hereditary, 3 OMIM:608656 MONDO:equivalentTo prostate cancer, hereditary, 3 semapv:UnspecifiedMatching MONDO:0012115 scoliosis, isolated, susceptibility to, 3 OMIM:608765 MONDO:equivalentTo scoliosis, isolated, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 OMIM:608787 MONDO:equivalentTo otosclerosis 5 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 OMIM:608831 MONDO:equivalentTo restless legs syndrome, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012141 orofacial cleft 6, susceptibility to OMIM:608864 MONDO:equivalentTo orofacial cleft 6, susceptibility to semapv:UnspecifiedMatching +MONDO:0012145 macular degeneration, age-related, 3 OMIM:608895 MONDO:equivalentTo macular degeneration, age-related, 3 semapv:UnspecifiedMatching MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 OMIM:608903 MONDO:equivalentTo attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 OMIM:608904 MONDO:equivalentTo attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 OMIM:608905 MONDO:equivalentTo attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 OMIM:608906 MONDO:equivalentTo attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012154 myopia 6 OMIM:608908 MONDO:equivalentTo myopia 6 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 OMIM:608932 MONDO:equivalentTo keratoconus 2 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 OMIM:608935 MONDO:equivalentTo lung cancer susceptibility 1 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 OMIM:608988 MONDO:equivalentTo atrial fibrillation, familial, 2 semapv:UnspecifiedMatching MONDO:0012168 dyslexia, susceptibility to, 8 OMIM:608995 MONDO:equivalentTo dyslexia, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy OMIM:609021 MONDO:equivalentTo peripheral cone dystrophy semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 OMIM:609039 MONDO:equivalentTo narcolepsy 3 semapv:UnspecifiedMatching +MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 OMIM:609048 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 OMIM:609256 MONDO:equivalentTo myopia 7 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 OMIM:609257 MONDO:equivalentTo myopia 8 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 OMIM:609258 MONDO:equivalentTo myopia 9 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 OMIM:609259 MONDO:equivalentTo myopia 10 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 OMIM:609261 MONDO:equivalentTo stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 OMIM:609271 MONDO:equivalentTo keratoconus 4 semapv:UnspecifiedMatching +MONDO:0012244 prostate cancer, hereditary, 5 OMIM:609299 MONDO:equivalentTo prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion OMIM:609334 MONDO:equivalentTo chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema OMIM:609352 MONDO:equivalentTo epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 OMIM:609378 MONDO:equivalentTo autism, susceptibility to, 6 semapv:UnspecifiedMatching @@ -204,6 +269,7 @@ MONDO:0012278 supranuclear palsy, progressive, 2 OMIM:609454 MONDO:equivalentTo MONDO:0012282 Al-Gazali syndrome OMIM:609465 MONDO:equivalentTo al-gazali syndrome semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 OMIM:609470 MONDO:equivalentTo left ventricular noncompaction 2 semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset OMIM:609500 MONDO:equivalentTo myopathy, autophagic vacuolar, infantile-onset semapv:UnspecifiedMatching +MONDO:0012300 prostate cancer, hereditary, 6 OMIM:609558 MONDO:equivalentTo prostate cancer, hereditary, 6 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 OMIM:609566 MONDO:equivalentTo parietal foramina 3 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 OMIM:609782 MONDO:equivalentTo aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel OMIM:609817 MONDO:equivalentTo vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching @@ -212,18 +278,24 @@ MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 OMIM:609903 MON MONDO:0012365 gallbladder disease 2 OMIM:609918 MONDO:equivalentTo gallbladder disease 2 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 OMIM:609919 MONDO:equivalentTo gallbladder disease 3 semapv:UnspecifiedMatching MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 OMIM:609939 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012379 asthma-related traits, susceptibility to, 3 OMIM:609958 MONDO:equivalentTo asthma-related traits, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant OMIM:609994 MONDO:equivalentTo myopia 11, autosomal dominant semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant OMIM:609995 MONDO:equivalentTo myopia 12, autosomal dominant semapv:UnspecifiedMatching MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 OMIM:610065 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 OMIM:610066 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 OMIM:610071 MONDO:equivalentTo hyperparathyroidism 3 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 OMIM:610170 MONDO:equivalentTo kyphoscoliosis 1 semapv:UnspecifiedMatching +MONDO:0012431 diaphragmatic hernia 3 OMIM:610187 MONDO:equivalentTo diaphragmatic hernia 3 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 MONDO:equivalentTo pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching +MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to OMIM:610297 MONDO:equivalentTo parkinson disease 13, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0012469 myopia 14 OMIM:610320 MONDO:equivalentTo myopia 14 semapv:UnspecifiedMatching +MONDO:0012471 Aicardi-Goutieres syndrome 3 OMIM:610329 MONDO:equivalentTo aicardi-goutieres syndrome 3 semapv:UnspecifiedMatching +MONDO:0012472 Aicardi-Goutieres syndrome 4 OMIM:610333 MONDO:equivalentTo aicardi-goutieres syndrome 4 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 OMIM:610420 MONDO:equivalentTo preauricular tag, isolated, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0012492 restless legs syndrome, susceptibility to, 3 OMIM:610438 MONDO:equivalentTo restless legs syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012493 restless legs syndrome, susceptibility to, 4 OMIM:610439 MONDO:equivalentTo restless legs syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis OMIM:610441 MONDO:equivalentTo testicular microlithiasis semapv:UnspecifiedMatching +MONDO:0012500 chilblain lupus 1 OMIM:610448 MONDO:equivalentTo chilblain lupus 1 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M OMIM:610535 MONDO:equivalentTo glaucoma 1, open angle, m semapv:UnspecifiedMatching MONDO:0012533 autism, susceptibility to, 7 OMIM:610676 MONDO:equivalentTo autism, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 OMIM:610685 MONDO:equivalentTo split-hand/foot malformation with long bone deficiency 2 semapv:UnspecifiedMatching @@ -231,11 +303,18 @@ MONDO:0012550 iris pattern OMIM:610744 MONDO:equivalentTo iris pattern semapv:Un MONDO:0012551 alopecia areata 2 OMIM:610753 MONDO:equivalentTo alopecia areata 2 semapv:UnspecifiedMatching MONDO:0012566 autism, susceptibility to, 11 OMIM:610836 MONDO:equivalentTo autism, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012567 autism, susceptibility to, 12 OMIM:610838 MONDO:equivalentTo autism, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012573 vesicoureteral reflux 2 OMIM:610878 MONDO:equivalentTo vesicoureteral reflux 2 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 OMIM:610898 MONDO:equivalentTo supranuclear palsy, progressive, 3 semapv:UnspecifiedMatching MONDO:0012578 autism, susceptibility to, 13 OMIM:610908 MONDO:equivalentTo autism, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 OMIM:610927 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012585 coronary heart disease, susceptibility to, 7 OMIM:610938 MONDO:equivalentTo coronary heart disease, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012586 coronary artery disease, autosomal dominant 2 OMIM:610947 MONDO:equivalentTo coronary artery disease, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0012597 prostate cancer, hereditary, 9 OMIM:610997 MONDO:equivalentTo prostate cancer, hereditary, 9 semapv:UnspecifiedMatching MONDO:0012599 hypertension, essential, susceptibility to, 8 OMIM:611014 MONDO:equivalentTo hypertension, essential, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012600 autism, susceptibility to, 9 OMIM:611015 MONDO:equivalentTo autism, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012601 autism, susceptibility to, 10 OMIM:611016 MONDO:equivalentTo autism, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012606 mycobacterium tuberculosis, susceptibility to, 2 OMIM:611046 MONDO:equivalentTo mycobacterium tuberculosis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012607 asthma-related traits, susceptibility to, 5 OMIM:611064 MONDO:equivalentTo asthma-related traits, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 OMIM:611100 MONDO:equivalentTo prostate cancer, hereditary, 10 semapv:UnspecifiedMatching MONDO:0012628 coronary heart disease, susceptibility to, 8 OMIM:611139 MONDO:equivalentTo coronary heart disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012636 restless legs syndrome, susceptibility to, 6 OMIM:611185 MONDO:equivalentTo restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching @@ -244,13 +323,18 @@ MONDO:0012645 glaucoma 1, open angle, N OMIM:611274 MONDO:equivalentTo glaucoma MONDO:0012646 glaucoma 1, open angle, H OMIM:611276 MONDO:equivalentTo glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant OMIM:611308 MONDO:equivalentTo persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching MONDO:0012663 Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0012666 asthma-related traits, susceptibility to, 6 OMIM:611403 MONDO:equivalentTo asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012677 atrial fibrillation, familial, 4 OMIM:611493 MONDO:equivalentTo atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 OMIM:611494 MONDO:equivalentTo atrial fibrillation, familial, 5 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 OMIM:611571 MONDO:equivalentTo otosclerosis 4 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 OMIM:611572 MONDO:equivalentTo otosclerosis 7 semapv:UnspecifiedMatching +MONDO:0012709 microphthalmia, isolated, with coloboma 5 OMIM:611638 MONDO:equivalentTo microphthalmia, isolated, with coloboma 5 semapv:UnspecifiedMatching MONDO:0012710 Hirschsprung disease, susceptibility to, 9 OMIM:611644 MONDO:equivalentTo hirschsprung disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy OMIM:611694 MONDO:equivalentTo dystonia with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0012715 migraine with or without aura, susceptibility to, 12 OMIM:611706 MONDO:equivalentTo migraine with or without aura, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012741 prostate cancer, hereditary, 12 OMIM:611868 MONDO:equivalentTo prostate cancer, hereditary, 12 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 OMIM:611891 MONDO:equivalentTo aortic aneurysm, familial abdominal, 3 semapv:UnspecifiedMatching +MONDO:0012758 prostate cancer, hereditary, 13 OMIM:611928 MONDO:equivalentTo prostate cancer, hereditary, 13 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 OMIM:611944 MONDO:equivalentTo lymphatic malformation 2 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 OMIM:611955 MONDO:equivalentTo prostate cancer, hereditary, 11 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 OMIM:611958 MONDO:equivalentTo prostate cancer, hereditary, 14 semapv:UnspecifiedMatching @@ -261,32 +345,47 @@ MONDO:0012788 coronary heart disease, susceptibility to, 9 OMIM:612030 MONDO:equ MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism OMIM:612089 MONDO:equivalentTo hypophosphatemic rickets and hyperparathyroidism semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 OMIM:612096 MONDO:equivalentTo otosclerosis 8 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops OMIM:612097 MONDO:equivalentTo deafness, unilateral, with delayed endolymphatic hydrops semapv:UnspecifiedMatching +MONDO:0012801 autism, susceptibility to, 15 OMIM:612100 MONDO:equivalentTo autism, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous OMIM:612160 MONDO:equivalentTo histiocytoma, angiomatoid fibrous semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba OMIM:612198 MONDO:equivalentTo diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching +MONDO:0012816 atrial fibrillation, familial, 6 OMIM:612201 MONDO:equivalentTo atrial fibrillation, familial, 6 semapv:UnspecifiedMatching MONDO:0012826 scoliosis, isolated, susceptibility to, 4 OMIM:612238 MONDO:equivalentTo scoliosis, isolated, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012827 scoliosis, isolated, susceptibility to, 5 OMIM:612239 MONDO:equivalentTo scoliosis, isolated, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012828 atrial fibrillation, familial, 7 OMIM:612240 MONDO:equivalentTo atrial fibrillation, familial, 7 semapv:UnspecifiedMatching +MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 OMIM:612251 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 OMIM:612253 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 OMIM:612254 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 OMIM:612263 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 OMIM:612269 MONDO:equivalentTo epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 OMIM:612347 MONDO:equivalentTo jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012888 sarcoidosis, susceptibility to, 2 OMIM:612387 MONDO:equivalentTo sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012889 sarcoidosis, susceptibility to, 3 OMIM:612388 MONDO:equivalentTo sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to OMIM:612417 MONDO:equivalentTo narcolepsy 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 OMIM:612421 MONDO:equivalentTo alopecia, androgenetic, 3 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 OMIM:612514 MONDO:equivalentTo specific language impairment 4 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 OMIM:612525 MONDO:equivalentTo pyloric stenosis, infantile hypertrophic, 5 semapv:UnspecifiedMatching +MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to OMIM:612551 MONDO:equivalentTo focal segmental glomerulosclerosis 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant OMIM:612554 MONDO:equivalentTo myopia 16, autosomal dominant semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 OMIM:612593 MONDO:equivalentTo lung cancer susceptibility 4 semapv:UnspecifiedMatching MONDO:0012956 multiple sclerosis, susceptibility to, 2 OMIM:612594 MONDO:equivalentTo multiple sclerosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012958 multiple sclerosis, susceptibility to, 4 OMIM:612596 MONDO:equivalentTo multiple sclerosis, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012993 dyschromatosis universalis hereditaria 2 OMIM:612715 MONDO:equivalentTo dyschromatosis universalis hereditaria 2 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant OMIM:612717 MONDO:equivalentTo myopia 15, autosomal dominant semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome OMIM:612731 MONDO:equivalentTo faciocardiomelic syndrome semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to OMIM:612851 MONDO:equivalentTo narcolepsy 5, susceptibility to semapv:UnspecifiedMatching MONDO:0013022 restless legs syndrome, susceptibility to, 7 OMIM:612853 MONDO:equivalentTo restless legs syndrome, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 OMIM:612900 MONDO:equivalentTo cerebral palsy, spastic quadriplegic, 2 semapv:UnspecifiedMatching +MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 OMIM:612929 MONDO:equivalentTo mycobacterium tuberculosis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 OMIM:612956 MONDO:equivalentTo ventricular fibrillation, paroxysmal familial, 2 semapv:UnspecifiedMatching MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 OMIM:613003 MONDO:equivalentTo attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013083 neuroblastoma, susceptibility to, 3 OMIM:613014 MONDO:equivalentTo neuroblastoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013084 neuroblastoma, susceptibility to, 4 OMIM:613015 MONDO:equivalentTo neuroblastoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013085 neuroblastoma, susceptibility to, 5 OMIM:613016 MONDO:equivalentTo neuroblastoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013086 neuroblastoma, susceptibility to, 6 OMIM:613017 MONDO:equivalentTo neuroblastoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013088 follicular lymphoma, susceptibility to, 1 OMIM:613024 MONDO:equivalentTo follicular lymphoma, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0013092 glioma susceptibility 2 OMIM:613028 MONDO:equivalentTo glioma susceptibility 2 semapv:UnspecifiedMatching +MONDO:0013093 glioma susceptibility 3 OMIM:613029 MONDO:equivalentTo glioma susceptibility 3 semapv:UnspecifiedMatching MONDO:0013094 glioma susceptibility 5 OMIM:613030 MONDO:equivalentTo glioma susceptibility 5 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 OMIM:613031 MONDO:equivalentTo glioma susceptibility 6 semapv:UnspecifiedMatching MONDO:0013096 glioma susceptibility 7 OMIM:613032 MONDO:equivalentTo glioma susceptibility 7 semapv:UnspecifiedMatching @@ -297,32 +396,91 @@ MONDO:0013102 basal cell carcinoma, susceptibility to, 3 OMIM:613059 MONDO:equiv MONDO:0013104 basal cell carcinoma, susceptibility to, 4 OMIM:613061 MONDO:equivalentTo basal cell carcinoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 OMIM:613062 MONDO:equivalentTo basal cell carcinoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 OMIM:613063 MONDO:equivalentTo basal cell carcinoma, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013113 metaphyseal anadysplasia 2 OMIM:613073 MONDO:equivalentTo metaphyseal anadysplasia 2 semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C OMIM:613085 MONDO:equivalentTo glaucoma 3, primary congenital, c semapv:UnspecifiedMatching +MONDO:0013122 glaucoma 3, primary congenital, D OMIM:613086 MONDO:equivalentTo glaucoma 3, primary congenital, d semapv:UnspecifiedMatching +MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 OMIM:613099 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013134 glaucoma 1, open angle, O OMIM:613100 MONDO:equivalentTo glaucoma 1, open angle, o semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 OMIM:613106 MONDO:equivalentTo vertigo, benign recurrent, 2 semapv:UnspecifiedMatching MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of OMIM:613225 MONDO:equivalentTo factor xiii, a subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of OMIM:613235 MONDO:equivalentTo factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching +MONDO:0013192 spondyloarthropathy, susceptibility to, 3 OMIM:613238 MONDO:equivalentTo spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 OMIM:613239 MONDO:equivalentTo thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to OMIM:613290 MONDO:equivalentTo hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching +MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 OMIM:613312 MONDO:equivalentTo hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching +MONDO:0013230 epilepsy, hot water, 2 OMIM:613340 MONDO:equivalentTo epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 OMIM:613407 MONDO:equivalentTo leprosy, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 OMIM:613412 MONDO:equivalentTo esophagitis, eosinophilic, 2 semapv:UnspecifiedMatching +MONDO:0013265 autism, susceptibility to, 17 OMIM:613436 MONDO:equivalentTo autism, susceptibility to, 17 semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 OMIM:613480 MONDO:equivalentTo lymphatic malformation 3 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive OMIM:613500 MONDO:equivalentTo agammaglobulinemia 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013303 autoimmune disease, susceptibility to, 6 OMIM:613551 MONDO:equivalentTo autoimmune disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome OMIM:613603 MONDO:equivalentTo chromosome 4q32.1-q32.2 triplication syndrome semapv:UnspecifiedMatching +MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 OMIM:613625 MONDO:equivalentTo factor 5 and factor viii, combined deficiency of, 2 semapv:UnspecifiedMatching +MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 MONDO:equivalentTo parkinson disease 5, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0013356 vesicoureteral reflux 3 OMIM:613674 MONDO:equivalentTo vesicoureteral reflux 3 semapv:UnspecifiedMatching +MONDO:0013376 microphthalmia, isolated, with coloboma 6 OMIM:613703 MONDO:equivalentTo microphthalmia, isolated, with coloboma 6 semapv:UnspecifiedMatching +MONDO:0013383 Hirschsprung disease, susceptibility to, 3 OMIM:613711 MONDO:equivalentTo hirschsprung disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013384 Hirschsprung disease, susceptibility to, 4 OMIM:613712 MONDO:equivalentTo hirschsprung disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013398 acne inversa, familial, 3 OMIM:613737 MONDO:equivalentTo acne inversa, familial, 3 semapv:UnspecifiedMatching +MONDO:0013403 heterotaxy, visceral, 4, autosomal OMIM:613751 MONDO:equivalentTo heterotaxy, visceral, 4, autosomal semapv:UnspecifiedMatching MONDO:0013462 fucosyltransferase 6 deficiency OMIM:613852 MONDO:equivalentTo fucosyltransferase 6 deficiency semapv:UnspecifiedMatching MONDO:0013496 IgA nephropathy, susceptibility to, 2 OMIM:613944 MONDO:equivalentTo iga nephropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 OMIM:613954 MONDO:equivalentTo frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching +MONDO:0013502 amyloidosis, primary localized cutaneous, 2 OMIM:613955 MONDO:equivalentTo amyloidosis, primary localized cutaneous, 2 semapv:UnspecifiedMatching MONDO:0013508 myopia 19, autosomal dominant OMIM:613969 MONDO:equivalentTo myopia 19, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 OMIM:613972 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013511 cyanosis, transient neonatal OMIM:613977 MONDO:equivalentTo cyanosis, transient neonatal semapv:UnspecifiedMatching +MONDO:0013513 atrial fibrillation, familial, 9 OMIM:613980 MONDO:equivalentTo atrial fibrillation, familial, 9 semapv:UnspecifiedMatching +MONDO:0013518 pituitary hormone deficiency, combined, 6 OMIM:613986 MONDO:equivalentTo pituitary hormone deficiency, combined, 6 semapv:UnspecifiedMatching +MONDO:0013530 atrial fibrillation, familial, 10 OMIM:614022 MONDO:equivalentTo atrial fibrillation, familial, 10 semapv:UnspecifiedMatching MONDO:0013532 protein Z deficiency OMIM:614024 MONDO:equivalentTo protein z deficiency semapv:UnspecifiedMatching +MONDO:0013536 heme oxygenase 1 deficiency OMIM:614034 MONDO:equivalentTo heme oxygenase 1 deficiency semapv:UnspecifiedMatching +MONDO:0013542 Moyamoya disease 5 OMIM:614042 MONDO:equivalentTo moyamoya disease 5 semapv:UnspecifiedMatching +MONDO:0013544 atrial fibrillation, familial, 11 OMIM:614049 MONDO:equivalentTo atrial fibrillation, familial, 11 semapv:UnspecifiedMatching +MONDO:0013545 atrial fibrillation, familial, 12 OMIM:614050 MONDO:equivalentTo atrial fibrillation, familial, 12 semapv:UnspecifiedMatching MONDO:0013562 aspergillosis, susceptibility to OMIM:614079 MONDO:equivalentTo aspergillosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0013568 sick sinus syndrome 3, susceptibility to OMIM:614090 MONDO:equivalentTo sick sinus syndrome 3, susceptibility to semapv:UnspecifiedMatching MONDO:0013575 plasma fibronectin deficiency OMIM:614101 MONDO:equivalentTo plasma fibronectin deficiency semapv:UnspecifiedMatching MONDO:0013577 Lipedema OMIM:614103 MONDO:equivalentTo lipedema semapv:UnspecifiedMatching +MONDO:0013602 paragangliomas 5 OMIM:614165 MONDO:equivalentTo paragangliomas 5 semapv:UnspecifiedMatching MONDO:0013603 myopia 20, autosomal dominant OMIM:614166 MONDO:equivalentTo myopia 20, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013604 myopia 21, autosomal dominant OMIM:614167 MONDO:equivalentTo myopia 21, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome OMIM:614195 MONDO:equivalentTo craniofacial anomalies and anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0013631 lung cancer susceptibility 5 OMIM:614210 MONDO:equivalentTo lung cancer susceptibility 5 semapv:UnspecifiedMatching +MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 OMIM:614212 MONDO:equivalentTo encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013635 Adams-Oliver syndrome 2 OMIM:614219 MONDO:equivalentTo adams-oliver syndrome 2 semapv:UnspecifiedMatching MONDO:0013639 narcolepsy 6, susceptibility to OMIM:614223 MONDO:equivalentTo narcolepsy 6, susceptibility to semapv:UnspecifiedMatching +MONDO:0013652 narcolepsy 7 OMIM:614250 MONDO:equivalentTo narcolepsy 7 semapv:UnspecifiedMatching +MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to OMIM:614251 MONDO:equivalentTo parkinson disease 18, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy OMIM:614262 MONDO:equivalentTo arthrogryposis, perthes disease, and upward gaze palsy semapv:UnspecifiedMatching +MONDO:0013663 platelet-activating factor acetylhydrolase deficiency OMIM:614278 MONDO:equivalentTo platelet-activating factor acetylhydrolase deficiency semapv:UnspecifiedMatching +MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 OMIM:614291 MONDO:equivalentTo breast-ovarian cancer, familial, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration OMIM:614292 MONDO:equivalentTo myopia, high, with cataract and vitreoretinal degeneration semapv:UnspecifiedMatching +MONDO:0013680 cognitive impairment with or without cerebellar ataxia OMIM:614306 MONDO:equivalentTo cognitive impairment with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0013682 vesicoureteral reflux 4 OMIM:614317 MONDO:equivalentTo vesicoureteral reflux 4 semapv:UnspecifiedMatching MONDO:0013683 vesicoureteral reflux 5 OMIM:614318 MONDO:equivalentTo vesicoureteral reflux 5 semapv:UnspecifiedMatching MONDO:0013684 vesicoureteral reflux 6 OMIM:614319 MONDO:equivalentTo vesicoureteral reflux 6 semapv:UnspecifiedMatching +MONDO:0013685 pancreatic cancer, susceptibility to, 4 OMIM:614320 MONDO:equivalentTo pancreatic cancer, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 OMIM:614328 MONDO:equivalentTo inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching MONDO:0013716 aortic aneurysm, familial abdominal, 4 OMIM:614375 MONDO:equivalentTo aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching +MONDO:0013724 bacteremia, susceptibility to, 2 OMIM:614383 MONDO:equivalentTo bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 OMIM:614390 MONDO:equivalentTo pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 OMIM:614391 MONDO:equivalentTo pregnancy loss, recurrent, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013732 glucocorticoid therapy, response to OMIM:614400 MONDO:equivalentTo glucocorticoid therapy, response to semapv:UnspecifiedMatching +MONDO:0013739 chilblain lupus 2 OMIM:614415 MONDO:equivalentTo chilblain lupus 2 semapv:UnspecifiedMatching +MONDO:0013746 ventricular septal defect 1 OMIM:614429 MONDO:equivalentTo ventricular septal defect 1 semapv:UnspecifiedMatching +MONDO:0013747 atrioventricular septal defect 4 OMIM:614430 MONDO:equivalentTo atrioventricular septal defect 4 semapv:UnspecifiedMatching +MONDO:0013748 ventricular septal defect 2 OMIM:614431 MONDO:equivalentTo ventricular septal defect 2 semapv:UnspecifiedMatching +MONDO:0013749 ventricular septal defect 3 OMIM:614432 MONDO:equivalentTo ventricular septal defect 3 semapv:UnspecifiedMatching +MONDO:0013752 hypoplastic left heart syndrome 2 OMIM:614435 MONDO:equivalentTo hypoplastic left heart syndrome 2 semapv:UnspecifiedMatching +MONDO:0013765 coronary heart disease, susceptibility to, 6 OMIM:614466 MONDO:equivalentTo coronary heart disease, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013768 arterial calcification, generalized, of infancy, 2 OMIM:614473 MONDO:equivalentTo arterial calcification, generalized, of infancy, 2 semapv:UnspecifiedMatching +MONDO:0013769 atrioventricular septal defect 5 OMIM:614474 MONDO:equivalentTo atrioventricular septal defect 5 semapv:UnspecifiedMatching +MONDO:0013783 microphthalmia, isolated, with coloboma 7 OMIM:614497 MONDO:equivalentTo microphthalmia, isolated, with coloboma 7 semapv:UnspecifiedMatching +MONDO:0013790 mirror movements 2 OMIM:614508 MONDO:equivalentTo mirror movements 2 semapv:UnspecifiedMatching +MONDO:0013822 acrodysostosis 2 with or without hormone resistance OMIM:614613 MONDO:equivalentTo acrodysostosis 2 with or without hormone resistance semapv:UnspecifiedMatching MONDO:0013830 keratoconus 5 OMIM:614622 MONDO:equivalentTo keratoconus 5 semapv:UnspecifiedMatching MONDO:0013831 keratoconus 6 OMIM:614623 MONDO:equivalentTo keratoconus 6 semapv:UnspecifiedMatching MONDO:0013832 keratoconus 8 OMIM:614628 MONDO:equivalentTo keratoconus 8 semapv:UnspecifiedMatching @@ -330,23 +488,108 @@ MONDO:0013833 keratoconus 7 OMIM:614629 MONDO:equivalentTo keratoconus 7 semapv: MONDO:0013841 stuttering, familial persistent, 3 OMIM:614655 MONDO:equivalentTo stuttering, familial persistent, 3 semapv:UnspecifiedMatching MONDO:0013844 stuttering, familial persistent, 4 OMIM:614668 MONDO:equivalentTo stuttering, familial persistent, 4 semapv:UnspecifiedMatching MONDO:0013855 influenza, severe, susceptibility to OMIM:614680 MONDO:equivalentTo influenza, severe, susceptibility to semapv:UnspecifiedMatching +MONDO:0013862 immunodeficiency, common variable, 7 OMIM:614699 MONDO:equivalentTo immunodeficiency, common variable, 7 semapv:UnspecifiedMatching MONDO:0013868 porokeratosis 7, multiple types OMIM:614714 MONDO:equivalentTo porokeratosis 7, multiple types semapv:UnspecifiedMatching +MONDO:0013876 basal cell carcinoma, susceptibility to, 7 OMIM:614740 MONDO:equivalentTo basal cell carcinoma, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013880 facial paresis, hereditary congenital, 3 OMIM:614744 MONDO:equivalentTo facial paresis, hereditary congenital, 3 semapv:UnspecifiedMatching +MONDO:0013887 heterotaxy, visceral, 6, autosomal OMIM:614779 MONDO:equivalentTo heterotaxy, visceral, 6, autosomal semapv:UnspecifiedMatching +MONDO:0013893 multiple sclerosis, susceptibility to, 5 OMIM:614810 MONDO:equivalentTo multiple sclerosis, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013895 Adams-Oliver syndrome 3 OMIM:614814 MONDO:equivalentTo adams-oliver syndrome 3 semapv:UnspecifiedMatching +MONDO:0013899 Weill-Marchesani syndrome 3 OMIM:614819 MONDO:equivalentTo weill-marchesani syndrome 3 semapv:UnspecifiedMatching +MONDO:0013900 alternating hemiplegia of childhood 2 OMIM:614820 MONDO:equivalentTo alternating hemiplegia of childhood 2 semapv:UnspecifiedMatching MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 OMIM:614834 MONDO:equivalentTo thyrotoxic periodic paralysis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013950 peroxisome biogenesis disorder 11B OMIM:614885 MONDO:equivalentTo peroxisome biogenesis disorder 11b semapv:UnspecifiedMatching +MONDO:0013972 Perrault syndrome 2 OMIM:614926 MONDO:equivalentTo perrault syndrome 2 semapv:UnspecifiedMatching +MONDO:0014000 congenital heart defects, multiple types, 2 OMIM:614980 MONDO:equivalentTo congenital heart defects, multiple types, 2 semapv:UnspecifiedMatching +MONDO:0014004 basal ganglia calcification, idiopathic, 4 OMIM:615007 MONDO:equivalentTo basal ganglia calcification, idiopathic, 4 semapv:UnspecifiedMatching +MONDO:0014007 Aicardi-Goutieres syndrome 6 OMIM:615010 MONDO:equivalentTo aicardi-goutieres syndrome 6 semapv:UnspecifiedMatching +MONDO:0014008 phosphohydroxylysinuria OMIM:615011 MONDO:equivalentTo phosphohydroxylysinuria semapv:UnspecifiedMatching MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive OMIM:615028 MONDO:equivalentTo epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014041 autism, susceptibility to, 19 OMIM:615091 MONDO:equivalentTo autism, susceptibility to, 19 semapv:UnspecifiedMatching +MONDO:0014049 urofacial syndrome 2 OMIM:615112 MONDO:equivalentTo urofacial syndrome 2 semapv:UnspecifiedMatching +MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 OMIM:615134 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0014057 maple syrup urine disease, mild variant OMIM:615135 MONDO:equivalentTo maple syrup urine disease, mild variant semapv:UnspecifiedMatching +MONDO:0014059 microphthalmia, isolated, with coloboma 9 OMIM:615145 MONDO:equivalentTo microphthalmia, isolated, with coloboma 9 semapv:UnspecifiedMatching MONDO:0014079 restless legs syndrome, susceptibility to, 8 OMIM:615197 MONDO:equivalentTo restless legs syndrome, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0014122 myofibromatosis, infantile, 2 OMIM:615293 MONDO:equivalentTo myofibromatosis, infantile, 2 semapv:UnspecifiedMatching +MONDO:0014124 Adams-Oliver syndrome 4 OMIM:615297 MONDO:equivalentTo adams-oliver syndrome 4 semapv:UnspecifiedMatching +MONDO:0014125 symphalangism, proximal, 1B OMIM:615298 MONDO:equivalentTo symphalangism, proximal, 1b semapv:UnspecifiedMatching +MONDO:0014126 Perrault syndrome 4 OMIM:615300 MONDO:equivalentTo perrault syndrome 4 semapv:UnspecifiedMatching +MONDO:0014130 Dowling-Degos disease 2 OMIM:615327 MONDO:equivalentTo dowling-degos disease 2 semapv:UnspecifiedMatching +MONDO:0014134 pulmonary hypertension, primary, 2 OMIM:615342 MONDO:equivalentTo pulmonary hypertension, primary, 2 semapv:UnspecifiedMatching +MONDO:0014135 pulmonary hypertension, primary, 3 OMIM:615343 MONDO:equivalentTo pulmonary hypertension, primary, 3 semapv:UnspecifiedMatching +MONDO:0014136 pulmonary hypertension, primary, 4 OMIM:615344 MONDO:equivalentTo pulmonary hypertension, primary, 4 semapv:UnspecifiedMatching +MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to OMIM:615371 MONDO:equivalentTo pulmonary hypertension, neonatal, susceptibility to semapv:UnspecifiedMatching +MONDO:0014155 atrial fibrillation, familial, 13 OMIM:615377 MONDO:equivalentTo atrial fibrillation, familial, 13 semapv:UnspecifiedMatching +MONDO:0014156 atrial fibrillation, familial, 14 OMIM:615378 MONDO:equivalentTo atrial fibrillation, familial, 14 semapv:UnspecifiedMatching MONDO:0014161 vesicoureteral reflux 7 OMIM:615390 MONDO:equivalentTo vesicoureteral reflux 7 semapv:UnspecifiedMatching +MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 OMIM:615399 MONDO:equivalentTo paroxysmal nocturnal hemoglobinuria 2 semapv:UnspecifiedMatching +MONDO:0014169 dyschromatosis universalis hereditaria 3 OMIM:615402 MONDO:equivalentTo dyschromatosis universalis hereditaria 3 semapv:UnspecifiedMatching +MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 OMIM:615415 MONDO:equivalentTo renal-hepatic-pancreatic dysplasia 2 semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM:615418 MONDO:equivalentTo mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:UnspecifiedMatching +MONDO:0014177 myopia 22, autosomal dominant OMIM:615420 MONDO:equivalentTo myopia 22, autosomal dominant semapv:UnspecifiedMatching MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency OMIM:615425 MONDO:equivalentTo epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency semapv:UnspecifiedMatching +MONDO:0014183 myopia 23, autosomal recessive OMIM:615431 MONDO:equivalentTo myopia 23, autosomal recessive semapv:UnspecifiedMatching MONDO:0014184 specific language impairment 5 OMIM:615432 MONDO:equivalentTo specific language impairment 5 semapv:UnspecifiedMatching +MONDO:0014187 aortic aneurysm, familial thoracic 8 OMIM:615436 MONDO:equivalentTo aortic aneurysm, familial thoracic 8 semapv:UnspecifiedMatching +MONDO:0014204 basal ganglia calcification, idiopathic, 5 OMIM:615483 MONDO:equivalentTo basal ganglia calcification, idiopathic, 5 semapv:UnspecifiedMatching +MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 OMIM:615523 MONDO:equivalentTo corneal dystrophy, fuchs endothelial, 8 semapv:UnspecifiedMatching +MONDO:0014232 craniosynostosis 5, susceptibility to OMIM:615529 MONDO:equivalentTo craniosynostosis 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0014239 testicular anomalies with or without congenital heart disease OMIM:615542 MONDO:equivalentTo testicular anomalies with or without congenital heart disease semapv:UnspecifiedMatching +MONDO:0014240 periventricular nodular heterotopia 6 OMIM:615544 MONDO:equivalentTo periventricular nodular heterotopia 6 semapv:UnspecifiedMatching +MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 OMIM:615545 MONDO:equivalentTo leukemia, acute lymphoblastic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0014264 otosclerosis 10 OMIM:615589 MONDO:equivalentTo otosclerosis 10 semapv:UnspecifiedMatching MONDO:0014277 developmental dysplasia of the hip 2 OMIM:615612 MONDO:equivalentTo developmental dysplasia of the hip 2 semapv:UnspecifiedMatching +MONDO:0014307 Dowling-Degos disease 4 OMIM:615696 MONDO:equivalentTo dowling-degos disease 4 semapv:UnspecifiedMatching +MONDO:0014319 renal hypodysplasia/aplasia 2 OMIM:615721 MONDO:equivalentTo renal hypodysplasia/aplasia 2 semapv:UnspecifiedMatching +MONDO:0014321 premature ovarian failure 8 OMIM:615723 MONDO:equivalentTo premature ovarian failure 8 semapv:UnspecifiedMatching +MONDO:0014324 pachyonychia congenita 3 OMIM:615726 MONDO:equivalentTo pachyonychia congenita 3 semapv:UnspecifiedMatching +MONDO:0014340 atrial fibrillation, familial, 15 OMIM:615770 MONDO:equivalentTo atrial fibrillation, familial, 15 semapv:UnspecifiedMatching +MONDO:0014343 Desbuquois dysplasia 2 OMIM:615777 MONDO:equivalentTo desbuquois dysplasia 2 semapv:UnspecifiedMatching +MONDO:0014344 congenital heart defects, multiple types, 4 OMIM:615779 MONDO:equivalentTo congenital heart defects, multiple types, 4 semapv:UnspecifiedMatching MONDO:0014347 short stature with microcephaly and distinctive facies OMIM:615789 MONDO:equivalentTo short stature with microcephaly and distinctive facies semapv:UnspecifiedMatching +MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM:615821 MONDO:equivalentTo cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:UnspecifiedMatching MONDO:0014362 chromosome 16 inversion, 0.45-Mb OMIM:615835 MONDO:equivalentTo chromosome 16 inversion, 0.45-mb semapv:UnspecifiedMatching +MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 OMIM:615848 MONDO:equivalentTo melanoma, cutaneous malignant, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0014383 myopathy, tubular aggregate, 2 OMIM:615883 MONDO:equivalentTo myopathy, tubular aggregate, 2 semapv:UnspecifiedMatching +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure OMIM:615889 MONDO:equivalentTo leukoencephalopathy, progressive, with ovarian failure semapv:UnspecifiedMatching MONDO:0014393 lymphatic malformation 4 OMIM:615907 MONDO:equivalentTo lymphatic malformation 4 semapv:UnspecifiedMatching +MONDO:0014399 ataxia-telangiectasia-like disorder 2 OMIM:615919 MONDO:equivalentTo ataxia-telangiectasia-like disorder 2 semapv:UnspecifiedMatching +MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM:615937 MONDO:equivalentTo megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:UnspecifiedMatching +MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM:615938 MONDO:equivalentTo megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:UnspecifiedMatching +MONDO:0014411 myopia 24, autosomal dominant OMIM:615946 MONDO:equivalentTo myopia 24, autosomal dominant semapv:UnspecifiedMatching MONDO:0014415 kallikrein, decreased urinary activity of OMIM:615953 MONDO:equivalentTo kallikrein, decreased urinary activity of semapv:UnspecifiedMatching +MONDO:0014422 vesicoureteral reflux 8 OMIM:615963 MONDO:equivalentTo vesicoureteral reflux 8 semapv:UnspecifiedMatching +MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 OMIM:616001 MONDO:equivalentTo breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:UnspecifiedMatching +MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM:616006 MONDO:equivalentTo hennekam lymphangiectasia-lymphedema syndrome 2 semapv:UnspecifiedMatching +MONDO:0014459 Adams-Oliver syndrome 5 OMIM:616028 MONDO:equivalentTo adams-oliver syndrome 5 semapv:UnspecifiedMatching +MONDO:0014478 mirror movements 3 OMIM:616059 MONDO:equivalentTo mirror movements 3 semapv:UnspecifiedMatching +MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 OMIM:616069 MONDO:equivalentTo inflammatory skin and bowel disease, neonatal, 2 semapv:UnspecifiedMatching +MONDO:0014501 macular degeneration, early-onset OMIM:616118 MONDO:equivalentTo macular degeneration, early-onset semapv:UnspecifiedMatching +MONDO:0014504 Perrault syndrome 5 OMIM:616138 MONDO:equivalentTo perrault syndrome 5 semapv:UnspecifiedMatching +MONDO:0014515 macular dystrophy with central cone involvement OMIM:616170 MONDO:equivalentTo macular dystrophy with central cone involvement semapv:UnspecifiedMatching +MONDO:0014522 retinal dystrophy and obesity OMIM:616188 MONDO:equivalentTo retinal dystrophy and obesity semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia OMIM:616214 MONDO:equivalentTo hyperproinsulinemia semapv:UnspecifiedMatching +MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 OMIM:616219 MONDO:equivalentTo fibrosis of extraocular muscles, congenital, 5 semapv:UnspecifiedMatching +MONDO:0014549 lethal congenital contracture syndrome 6 OMIM:616248 MONDO:equivalentTo lethal congenital contracture syndrome 6 semapv:UnspecifiedMatching +MONDO:0014551 short stature with nonspecific skeletal abnormalities OMIM:616255 MONDO:equivalentTo short stature with nonspecific skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0014569 lethal congenital contracture syndrome 7 OMIM:616286 MONDO:equivalentTo lethal congenital contracture syndrome 7 semapv:UnspecifiedMatching +MONDO:0014570 lethal congenital contracture syndrome 8 OMIM:616287 MONDO:equivalentTo lethal congenital contracture syndrome 8 semapv:UnspecifiedMatching +MONDO:0014575 Singleton-Merten syndrome 2 OMIM:616298 MONDO:equivalentTo singleton-merten syndrome 2 semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome OMIM:616407 MONDO:equivalentTo brown syndrome semapv:UnspecifiedMatching +MONDO:0014628 basal ganglia calcification, idiopathic, 6 OMIM:616413 MONDO:equivalentTo basal ganglia calcification, idiopathic, 6 semapv:UnspecifiedMatching +MONDO:0014635 microphthalmia, isolated, with coloboma 10 OMIM:616428 MONDO:equivalentTo microphthalmia, isolated, with coloboma 10 semapv:UnspecifiedMatching +MONDO:0014642 candidiasis, familial, 9 OMIM:616445 MONDO:equivalentTo candidiasis, familial, 9 semapv:UnspecifiedMatching +MONDO:0014646 Zimmermann-Laband syndrome 2 OMIM:616455 MONDO:equivalentTo zimmermann-laband syndrome 2 semapv:UnspecifiedMatching +MONDO:0014654 Ullrich congenital muscular dystrophy 2 OMIM:616470 MONDO:equivalentTo ullrich congenital muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0014663 Silver-Russell syndrome 3 OMIM:616489 MONDO:equivalentTo silver-russell syndrome 3 semapv:UnspecifiedMatching +MONDO:0014670 lethal congenital contracture syndrome 9 OMIM:616503 MONDO:equivalentTo lethal congenital contracture syndrome 9 semapv:UnspecifiedMatching +MONDO:0014681 thyroid cancer, nonmedullary, 4 OMIM:616534 MONDO:equivalentTo thyroid cancer, nonmedullary, 4 semapv:UnspecifiedMatching +MONDO:0014682 thyroid cancer, nonmedullary, 5 OMIM:616535 MONDO:equivalentTo thyroid cancer, nonmedullary, 5 semapv:UnspecifiedMatching +MONDO:0014686 short stature, microcephaly, and endocrine dysfunction OMIM:616541 MONDO:equivalentTo short stature, microcephaly, and endocrine dysfunction semapv:UnspecifiedMatching +MONDO:0014695 glioma susceptibility 9 OMIM:616568 MONDO:equivalentTo glioma susceptibility 9 semapv:UnspecifiedMatching +MONDO:0014703 Adams-Oliver syndrome 6 OMIM:616589 MONDO:equivalentTo adams-oliver syndrome 6 semapv:UnspecifiedMatching +MONDO:0014705 craniosynostosis 6 OMIM:616602 MONDO:equivalentTo craniosynostosis 6 semapv:UnspecifiedMatching MONDO:0014712 Senior-Loken syndrome 9 OMIM:616629 MONDO:equivalentTo senior-loken syndrome 9 semapv:UnspecifiedMatching MONDO:0014713 porokeratosis 9, multiple types OMIM:616631 MONDO:equivalentTo porokeratosis 9, multiple types semapv:UnspecifiedMatching MONDO:0014742 Parkinson disease 22, autosomal dominant OMIM:616710 MONDO:equivalentTo parkinson disease 22, autosomal dominant semapv:UnspecifiedMatching @@ -359,6 +602,7 @@ MONDO:0014779 Wilms tumor 6 OMIM:616806 MONDO:equivalentTo wilms tumor 6 semapv: MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 OMIM:616817 MONDO:equivalentTo microcephaly, short stature, and impaired glucose metabolism 2 semapv:UnspecifiedMatching MONDO:0014786 IgA nephropathy, susceptibility to, 3 OMIM:616818 MONDO:equivalentTo iga nephropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0014792 Paget disease of bone 6 OMIM:616833 MONDO:equivalentTo paget disease of bone 6 semapv:UnspecifiedMatching +MONDO:0014795 exercise intolerance, riboflavin-responsive OMIM:616839 MONDO:equivalentTo exercise intolerance, riboflavin-responsive semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 OMIM:616866 MONDO:equivalentTo spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 OMIM:616867 MONDO:equivalentTo spinal muscular atrophy with congenital bone fractures 2 semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 OMIM:616900 MONDO:equivalentTo hypotonia, infantile, with psychomotor retardation and characteristic facies 3 semapv:UnspecifiedMatching @@ -420,13 +664,18 @@ MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, a MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 OMIM:617320 MONDO:equivalentTo ichthyosis, congenital, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0015019 Yao syndrome OMIM:617321 MONDO:equivalentTo yao syndrome semapv:UnspecifiedMatching MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis OMIM:617333 MONDO:equivalentTo intellectual developmental disorder with dysmorphic facies and ptosis semapv:UnspecifiedMatching +MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 MONDO:equivalentTo cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching +MONDO:0018828 pseudo-TORCH syndrome 2 OMIM:617397 MONDO:equivalentTo pseudo-torch syndrome 2 semapv:UnspecifiedMatching +MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM:618097 MONDO:equivalentTo microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:UnspecifiedMatching MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM:618142 MONDO:equivalentTo microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:UnspecifiedMatching MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome OMIM:115000 MONDO:equivalentTo ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome semapv:UnspecifiedMatching MONDO:0020748 sitosterolemia 2 OMIM:618666 MONDO:equivalentTo sitosterolemia 2 semapv:UnspecifiedMatching MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM:618193 MONDO:equivalentTo polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 semapv:UnspecifiedMatching MONDO:0020751 orthostatic hypotension 2 OMIM:618182 MONDO:equivalentTo orthostatic hypotension 2 semapv:UnspecifiedMatching MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 OMIM:600131 MONDO:equivalentTo epilepsy, childhood absence, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0020763 Menke-Hennekam syndrome 1 OMIM:618332 MONDO:equivalentTo menke-hennekam syndrome 1 semapv:UnspecifiedMatching MONDO:0020766 neuropathy, congenital hypomyelinating, 3 OMIM:618186 MONDO:equivalentTo neuropathy, congenital hypomyelinating, 3 semapv:UnspecifiedMatching +MONDO:0020769 Menke-Hennekam syndrome 2 OMIM:618333 MONDO:equivalentTo menke-hennekam syndrome 2 semapv:UnspecifiedMatching MONDO:0020795 Silver-Russell syndrome 5 OMIM:618908 MONDO:equivalentTo silver-russell syndrome 5 semapv:UnspecifiedMatching MONDO:0020798 hypoparathyroidism, familial isolated, 2 OMIM:618883 MONDO:equivalentTo hypoparathyroidism, familial isolated, 2 semapv:UnspecifiedMatching MONDO:0020837 oocyte maturation defect 5 OMIM:617996 MONDO:equivalentTo oocyte maturation defect 5 semapv:UnspecifiedMatching @@ -448,6 +697,8 @@ MONDO:0024266 patent ductus arteriosus 3 OMIM:617039 MONDO:equivalentTo patent d MONDO:0024508 epilepsy, hot water, 1 OMIM:613339 MONDO:equivalentTo epilepsy, hot water, 1 semapv:UnspecifiedMatching MONDO:0024520 renal hypodysplasia/aplasia 3 OMIM:617805 MONDO:equivalentTo renal hypodysplasia/aplasia 3 semapv:UnspecifiedMatching MONDO:0024524 dyschromatosis universalis hereditaria 1 OMIM:127500 MONDO:equivalentTo dyschromatosis universalis hereditaria 1 semapv:UnspecifiedMatching +MONDO:0024532 otofaciocervical syndrome 1 OMIM:166780 MONDO:equivalentTo otofaciocervical syndrome 1 semapv:UnspecifiedMatching +MONDO:0024570 hyperparathyroidism 4 OMIM:617343 MONDO:equivalentTo hyperparathyroidism 4 semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM:301074 MONDO:equivalentTo autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked OMIM:301075 MONDO:equivalentTo myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching MONDO:0024773 spermatogenic failure, x-linked, 4 OMIM:301077 MONDO:equivalentTo spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching @@ -462,6 +713,10 @@ MONDO:0025701 leukodystrophy, hypomyelinating, 22 OMIM:619328 MONDO:equivalentTo MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351 MONDO:equivalentTo megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:UnspecifiedMatching MONDO:0025712 angioedema, hereditary, 4 OMIM:619360 MONDO:equivalentTo angioedema, hereditary, 4 semapv:UnspecifiedMatching MONDO:0025713 angioedema, hereditary, 7 OMIM:619366 MONDO:equivalentTo angioedema, hereditary, 7 semapv:UnspecifiedMatching +MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development OMIM:618124 MONDO:equivalentTo peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:UnspecifiedMatching +MONDO:0029132 Liddle syndrome 3 OMIM:618126 MONDO:equivalentTo liddle syndrome 3 semapv:UnspecifiedMatching +MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM:618129 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:UnspecifiedMatching +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM:618138 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0030004 autism, susceptibility to, 20 OMIM:618830 MONDO:equivalentTo autism, susceptibility to, 20 semapv:UnspecifiedMatching MONDO:0030005 epilepsy, early-onset, with or without developmental delay OMIM:618832 MONDO:equivalentTo epilepsy, early-onset, with or without developmental delay semapv:UnspecifiedMatching MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia OMIM:618841 MONDO:equivalentTo hypogonadotropic hypogonadism 25 with anosmia semapv:UnspecifiedMatching @@ -643,6 +898,7 @@ MONDO:0030819 meckel syndrome 14 OMIM:619879 MONDO:equivalentTo meckel syndrome MONDO:0030822 renal hypodysplasia/aplasia 4 OMIM:619887 MONDO:equivalentTo renal hypodysplasia/aplasia 4 semapv:UnspecifiedMatching MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant OMIM:619840 MONDO:equivalentTo macrothrombocytopenia, isolated, 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM:619090 MONDO:equivalentTo developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:UnspecifiedMatching +MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM:619092 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:UnspecifiedMatching MONDO:0030839 thyroid hormone metabolism, abnormal, 2 OMIM:619855 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 2 semapv:UnspecifiedMatching MONDO:0030840 mismatch repair cancer syndrome 2 OMIM:619096 MONDO:equivalentTo mismatch repair cancer syndrome 2 semapv:UnspecifiedMatching MONDO:0030841 mismatch repair cancer syndrome 3 OMIM:619097 MONDO:equivalentTo mismatch repair cancer syndrome 3 semapv:UnspecifiedMatching @@ -651,7 +907,6 @@ MONDO:0030849 intellectual developmental disorder with speech delay and axonal p MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities OMIM:619103 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities semapv:UnspecifiedMatching MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 OMIM:619115 MONDO:equivalentTo combined osteogenesis imperfecta and ehlers-danlos syndrome 1 semapv:UnspecifiedMatching MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 OMIM:619120 MONDO:equivalentTo combined osteogenesis imperfecta and ehlers-danlos syndrome 2 semapv:UnspecifiedMatching -MONDO:0030858 immunodeficiency 75 OMIM:619126 MONDO:equivalentTo immunodeficiency 75 semapv:UnspecifiedMatching MONDO:0030859 COACH syndrome 2 OMIM:619111 MONDO:equivalentTo coach syndrome 2 semapv:UnspecifiedMatching MONDO:0030862 COACH syndrome 3 OMIM:619113 MONDO:equivalentTo coach syndrome 3 semapv:UnspecifiedMatching MONDO:0030864 Ritscher-Schinzel syndrome 3 OMIM:619135 MONDO:equivalentTo ritscher-schinzel syndrome 3 semapv:UnspecifiedMatching @@ -692,23 +947,14 @@ MONDO:0030936 epilepsy, progressive myoclonic, 12 OMIM:619191 MONDO:equivalentTo MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 OMIM:619209 MONDO:equivalentTo erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities OMIM:619173 MONDO:equivalentTo neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM:619184 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching -MONDO:0030957 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching -MONDO:0030958 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO:0030961 Olmsted syndrome 2 OMIM:619208 MONDO:equivalentTo olmsted syndrome 2 semapv:UnspecifiedMatching MONDO:0030963 Li-Campeau syndrome OMIM:619189 MONDO:equivalentTo li-campeau syndrome semapv:UnspecifiedMatching -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis OMIM:619194 MONDO:equivalentTo neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM:619196 MONDO:equivalentTo deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay OMIM:619220 MONDO:equivalentTo immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching -MONDO:0030972 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 semapv:UnspecifiedMatching MONDO:0030973 immunodeficiency 77 OMIM:619223 MONDO:equivalentTo immunodeficiency 77 semapv:UnspecifiedMatching -MONDO:0030975 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 semapv:UnspecifiedMatching MONDO:0030976 oculomotor-abducens synkinesis OMIM:619215 MONDO:equivalentTo oculomotor-abducens synkinesis semapv:UnspecifiedMatching MONDO:0030977 neuropathy, hereditary motor, with myopathic features OMIM:619216 MONDO:equivalentTo neuropathy, hereditary motor, with myopathic features semapv:UnspecifiedMatching -MONDO:0030984 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 semapv:UnspecifiedMatching MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa OMIM:619226 MONDO:equivalentTo blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects OMIM:619227 MONDO:equivalentTo vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies OMIM:619228 MONDO:equivalentTo developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching @@ -725,28 +971,19 @@ MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy OMIM:61 MONDO:0031009 Glanzmann thrombasthenia 2 OMIM:619267 MONDO:equivalentTo glanzmann thrombasthenia 2 semapv:UnspecifiedMatching MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes OMIM:619269 MONDO:equivalentTo odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures OMIM:619264 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching -MONDO:0031019 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching -MONDO:0031021 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching -MONDO:0031044 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching -MONDO:0031052 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching -MONDO:0031055 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching -MONDO:0031057 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic semapv:UnspecifiedMatching -MONDO:0031060 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching -MONDO:0031062 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 semapv:UnspecifiedMatching -MONDO:0031071 diamond-blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 semapv:UnspecifiedMatching -MONDO:0031077 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 semapv:UnspecifiedMatching -MONDO:0031083 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 OMIM:607748 MONDO:equivalentTo hypercholanemia, familial 1 semapv:UnspecifiedMatching MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 OMIM:614231 MONDO:equivalentTo microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching MONDO:0032591 hyperparathyroidism, transient neonatal OMIM:618188 MONDO:equivalentTo hyperparathyroidism, transient neonatal semapv:UnspecifiedMatching MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination OMIM:618367 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination semapv:UnspecifiedMatching +MONDO:0032793 O'Donnell-Luria-Rodan syndrome OMIM:618512 MONDO:equivalentTo o'donnell-luria-rodan syndrome semapv:UnspecifiedMatching MONDO:0032811 night blindness, congenital stationary, type1i OMIM:618555 MONDO:equivalentTo night blindness, congenital stationary, type1i semapv:UnspecifiedMatching MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 OMIM:618596 MONDO:equivalentTo epilepsy, idiopathic generalized, susceptibility to, 16 semapv:UnspecifiedMatching +MONDO:0033006 Galloway-Mowat syndrome 2, X-linked OMIM:301006 MONDO:equivalentTo galloway-mowat syndrome 2, X-linked semapv:UnspecifiedMatching +MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 OMIM:617571 MONDO:equivalentTo ichthyosis, congenital, autosomal recessive 14 semapv:UnspecifiedMatching +MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 OMIM:617574 MONDO:equivalentTo ichthyosis, congenital, autosomal recessive 13 semapv:UnspecifiedMatching +MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 OMIM:617584 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 25 semapv:UnspecifiedMatching +MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 OMIM:617633 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 26 semapv:UnspecifiedMatching +MONDO:0033486 leukodystrophy, hypomyelinating, 14 OMIM:617899 MONDO:equivalentTo leukodystrophy, hypomyelinating, 14 semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 MONDO:equivalentTo neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities semapv:UnspecifiedMatching MONDO:0033618 Vissers-Bodmer syndrome OMIM:619033 MONDO:equivalentTo vissers-bodmer syndrome semapv:UnspecifiedMatching MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy OMIM:619036 MONDO:equivalentTo myopathy, epilepsy, and progressive cerebral atrophy semapv:UnspecifiedMatching @@ -758,14 +995,84 @@ MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain MONDO:0033664 Kilquist syndrome OMIM:619080 MONDO:equivalentTo kilquist syndrome semapv:UnspecifiedMatching MONDO:0033667 Delpire-McNeill syndrome OMIM:619083 MONDO:equivalentTo delpire-mcneill syndrome semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 OMIM:616471 MONDO:equivalentTo bethlem myopathy 2 semapv:UnspecifiedMatching +MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G OMIM:617882 MONDO:equivalentTo charcot-marie-tooth disease, dominant intermediate g semapv:UnspecifiedMatching +MONDO:0040502 glucocorticoid deficiency 5 OMIM:617825 MONDO:equivalentTo glucocorticoid deficiency 5 semapv:UnspecifiedMatching +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant OMIM:202700 MONDO:equivalentTo neutropenia, severe congenital, 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0044205 Shwachman-Diamond syndrome 2 OMIM:617941 MONDO:equivalentTo shwachman-diamond syndrome 2 semapv:UnspecifiedMatching +MONDO:0044208 specific granule deficiency 2 OMIM:617475 MONDO:equivalentTo specific granule deficiency 2 semapv:UnspecifiedMatching +MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to OMIM:617349 MONDO:equivalentTo aortic aneurysm, familial thoracic 11, susceptibility to semapv:UnspecifiedMatching +MONDO:0044303 congenital heart defects and ectodermal dysplasia OMIM:617364 MONDO:equivalentTo congenital heart defects and ectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM:617393 MONDO:equivalentTo neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:UnspecifiedMatching +MONDO:0044314 retinitis pigmentosa 78 OMIM:617433 MONDO:equivalentTo retinitis pigmentosa 78 semapv:UnspecifiedMatching +MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis OMIM:617441 MONDO:equivalentTo thrombocytopenia, anemia, and myelofibrosis semapv:UnspecifiedMatching +MONDO:0044317 premature ovarian failure 13 OMIM:617442 MONDO:equivalentTo premature ovarian failure 13 semapv:UnspecifiedMatching +MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies OMIM:617452 MONDO:equivalentTo intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:UnspecifiedMatching +MONDO:0044320 retinitis pigmentosa 79 OMIM:617460 MONDO:equivalentTo retinitis pigmentosa 79 semapv:UnspecifiedMatching +MONDO:0044321 structural heart defects and renal anomalies syndrome OMIM:617478 MONDO:equivalentTo structural heart defects and renal anomalies syndrome semapv:UnspecifiedMatching +MONDO:0044322 intellectual developmental disorder with neuropsychiatric features OMIM:617532 MONDO:equivalentTo intellectual developmental disorder with neuropsychiatric features semapv:UnspecifiedMatching +MONDO:0044323 Rahman syndrome OMIM:617537 MONDO:equivalentTo rahman syndrome semapv:UnspecifiedMatching +MONDO:0044325 Fanconi anemia, complementation group W OMIM:617784 MONDO:equivalentTo fanconi anemia, complementation group w semapv:UnspecifiedMatching +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts OMIM:617875 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly OMIM:617925 MONDO:equivalentTo short-rib thoracic dysplasia 20 with polydactyly semapv:UnspecifiedMatching +MONDO:0044777 premature ovarian failure 14 OMIM:618014 MONDO:equivalentTo premature ovarian failure 14 semapv:UnspecifiedMatching +MONDO:0049221 myopia 26, X-linked, female-limited OMIM:301010 MONDO:equivalentTo myopia 26, x-linked, female-limited semapv:UnspecifiedMatching +MONDO:0054549 peroxisome biogenesis disorder 10B OMIM:617370 MONDO:equivalentTo peroxisome biogenesis disorder 10b semapv:UnspecifiedMatching +MONDO:0054551 avascular necrosis of femoral head, primary, 2 OMIM:617383 MONDO:equivalentTo avascular necrosis of femoral head, primary, 2 semapv:UnspecifiedMatching +MONDO:0054573 Lopes-Maciel-Rodan syndrome OMIM:617435 MONDO:equivalentTo lopes-maciel-rodan syndrome semapv:UnspecifiedMatching +MONDO:0054577 bleeding disorder, platelet-type, 21 OMIM:617443 MONDO:equivalentTo bleeding disorder, platelet-type, 21 semapv:UnspecifiedMatching +MONDO:0054582 Townes-Brocks syndrome 2 OMIM:617466 MONDO:equivalentTo townes-brocks syndrome 2 semapv:UnspecifiedMatching +MONDO:0054591 Stankiewicz-Isidor syndrome OMIM:617516 MONDO:equivalentTo stankiewicz-isidor syndrome semapv:UnspecifiedMatching +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 OMIM:618048 MONDO:equivalentTo proteasome-associated autoinflammatory syndrome 2 semapv:UnspecifiedMatching +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts OMIM:617874 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 OMIM:617892 MONDO:equivalentTo amyotrophic lateral sclerosis, susceptibility to, 24 semapv:UnspecifiedMatching +MONDO:0054763 neurodegeneration with brain iron accumulation 7 OMIM:617916 MONDO:equivalentTo neurodegeneration with brain iron accumulation 7 semapv:UnspecifiedMatching +MONDO:0054764 neurodegeneration with brain iron accumulation 8 OMIM:617917 MONDO:equivalentTo neurodegeneration with brain iron accumulation 8 semapv:UnspecifiedMatching +MONDO:0054771 keratoconus 9 OMIM:617928 MONDO:equivalentTo keratoconus 9 semapv:UnspecifiedMatching +MONDO:0054782 leukodystrophy, hypomyelinating, 15 OMIM:617951 MONDO:equivalentTo leukodystrophy, hypomyelinating, 15 semapv:UnspecifiedMatching +MONDO:0054791 leukodystrophy, hypomyelinating, 16 OMIM:617964 MONDO:equivalentTo leukodystrophy, hypomyelinating, 16 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 OMIM:618000 MONDO:equivalentTo ehlers-danlos syndrome, classic-like, 2 semapv:UnspecifiedMatching +MONDO:0054817 leukodystrophy, hypomyelinating, 17 OMIM:618006 MONDO:equivalentTo leukodystrophy, hypomyelinating, 17 semapv:UnspecifiedMatching +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease OMIM:618061 MONDO:equivalentTo polycystic kidney disease 6 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0054852 peeling skin syndrome 6 OMIM:618084 MONDO:equivalentTo peeling skin syndrome 6 semapv:UnspecifiedMatching +MONDO:0054862 premature ovarian failure 15 OMIM:618096 MONDO:equivalentTo premature ovarian failure 15 semapv:UnspecifiedMatching MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM:617468 MONDO:equivalentTo arthrogryposis multiplex congenita 1, neurogenic, with myelin defect semapv:UnspecifiedMatching +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:UnspecifiedMatching +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies OMIM:617527 MONDO:equivalentTo neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:UnspecifiedMatching +MONDO:0060507 retinal dystrophy with or without macular staphyloma OMIM:617547 MONDO:equivalentTo retinal dystrophy with or without macular staphyloma semapv:UnspecifiedMatching +MONDO:0060510 Cohen-Gibson syndrome OMIM:617561 MONDO:equivalentTo cohen-gibson syndrome semapv:UnspecifiedMatching +MONDO:0060532 congenital heart defects and skeletal malformations syndrome OMIM:617602 MONDO:equivalentTo congenital heart defects and skeletal malformations syndrome semapv:UnspecifiedMatching +MONDO:0060551 cerebellar atrophy, developmental delay, and seizures OMIM:617643 MONDO:equivalentTo cerebellar atrophy, developmental delay, and seizures semapv:UnspecifiedMatching +MONDO:0060556 joint laxity, short stature, and myopia OMIM:617662 MONDO:equivalentTo joint laxity, short stature, and myopia semapv:UnspecifiedMatching +MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures OMIM:617709 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:UnspecifiedMatching +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures OMIM:617710 MONDO:equivalentTo neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:UnspecifiedMatching +MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM:617732 MONDO:equivalentTo facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:UnspecifiedMatching +MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia OMIM:617744 MONDO:equivalentTo immunodeficiency, developmental delay, and hypohomocysteinemia semapv:UnspecifiedMatching +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies OMIM:617755 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:UnspecifiedMatching +MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM:617802 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:UnspecifiedMatching +MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820 MONDO:equivalentTo neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:UnspecifiedMatching +MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy OMIM:617862 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:UnspecifiedMatching +MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities OMIM:617864 MONDO:equivalentTo neurodevelopmental disorder with or without seizures and gait abnormalities semapv:UnspecifiedMatching +MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features OMIM:617865 MONDO:equivalentTo neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:UnspecifiedMatching +MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills OMIM:617903 MONDO:equivalentTo neurodevelopmental disorder with poor language and loss of hand skills semapv:UnspecifiedMatching +MONDO:0060662 Diamond-Blackfan anemia-like OMIM:617911 MONDO:equivalentTo diamond-blackfan anemia-like semapv:UnspecifiedMatching +MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM:617915 MONDO:equivalentTo hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:UnspecifiedMatching +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 OMIM:617921 MONDO:equivalentTo amyotrophic lateral sclerosis, susceptibility to, 25 semapv:UnspecifiedMatching MONDO:0060677 chromosome 1p35 deletion syndrome OMIM:617930 MONDO:equivalentTo chromosome 1p35 deletion syndrome semapv:UnspecifiedMatching +MONDO:0060707 Ververi-Brady syndrome OMIM:617982 MONDO:equivalentTo ververi-brady syndrome semapv:UnspecifiedMatching +MONDO:0060711 Jaberi-Elahi syndrome OMIM:617988 MONDO:equivalentTo jaberi-elahi syndrome semapv:UnspecifiedMatching +MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon OMIM:617992 MONDO:equivalentTo deafness, congenital heart defects, and posterior embryotoxon semapv:UnspecifiedMatching +MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM:617993 MONDO:equivalentTo tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:UnspecifiedMatching +MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM:617994 MONDO:equivalentTo tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:UnspecifiedMatching +MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 OMIM:618010 MONDO:equivalentTo glycosylphosphatidylinositol biosynthesis defect 17 semapv:UnspecifiedMatching +MONDO:0060729 protoporphyria, erythropoietic, 2 OMIM:618015 MONDO:equivalentTo protoporphyria, erythropoietic, 2 semapv:UnspecifiedMatching +MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060 MONDO:equivalentTo intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth OMIM:618076 MONDO:equivalentTo neurodevelopmental disorder with spasticity and poor growth semapv:UnspecifiedMatching +MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM:618087 MONDO:equivalentTo spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:UnspecifiedMatching +MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum OMIM:618090 MONDO:equivalentTo neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:UnspecifiedMatching MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia OMIM:618850 MONDO:equivalentTo hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO:0100092 myoclonus, familial, 2 OMIM:618364 MONDO:equivalentTo myoclonus, familial, 2 semapv:UnspecifiedMatching MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome OMIM:619428 MONDO:equivalentTo focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0100119 Knobloch syndrome 2 OMIM:618458 MONDO:equivalentTo knobloch syndrome 2 semapv:UnspecifiedMatching -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 OMIM:618947 MONDO:equivalentTo arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant OMIM:618985 MONDO:equivalentTo growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 OMIM:619013 MONDO:equivalentTo rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 428bfd4f..00ef604c 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -219,6 +219,7 @@ MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytop MONDO:0017143 obsolete genetic infertility Orphanet:275742 MONDO:equivalentTo Genetic infertility semapv:UnspecifiedMatching MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism Orphanet:275844 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature Orphanet:275853 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching +MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization Orphanet:275938 MONDO:equivalentTo Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO:0017166 obsolete rare tumor of salivary glands Orphanet:276142 MONDO:equivalentTo Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO:0017259 obsolete systemic diseases with anterior uveitis Orphanet:280926 MONDO:equivalentTo Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO:0017260 obsolete systemic diseases with posterior uveitis Orphanet:280930 MONDO:equivalentTo Systemic diseases with posterior uveitis semapv:UnspecifiedMatching @@ -231,6 +232,7 @@ MONDO:0017341 virus associated tumor Orphanet:289635 MONDO:equivalentTo Rare vir MONDO:0017368 obsolete systemic disease with skin involvement Orphanet:290836 MONDO:equivalentTo Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency Orphanet:290839 MONDO:equivalentTo Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement Orphanet:290842 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching +MONDO:0017385 malignant migrating partial seizures of infancy Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome Orphanet:293208 MONDO:equivalentTo Celiac artery compression syndrome semapv:UnspecifiedMatching MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria Orphanet:293355 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO:0017393 blepharophimosis - intellectual disability syndrome Orphanet:293642 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv index 4477e5b5..d5104cdf 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv @@ -510,6 +510,7 @@ MONDO:0019423 X-linked intellectual disability, Stoll type Orphanet:85326 MONDO: MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome Orphanet:85327 MONDO:equivalentTo X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:UnspecifiedMatching MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome Orphanet:85330 MONDO:equivalentTo X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome semapv:UnspecifiedMatching MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type Orphanet:85334 MONDO:equivalentTo X-linked neurodegenerative syndrome, Bertini type semapv:UnspecifiedMatching +MONDO:0019428 fried syndrome Orphanet:85335 MONDO:equivalentTo Fried syndrome semapv:UnspecifiedMatching MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type Orphanet:85336 MONDO:equivalentTo X-linked neurodegenerative syndrome, Hamel type semapv:UnspecifiedMatching MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome Orphanet:85338 MONDO:equivalentTo X-linked intellectual disability-ataxia-apraxia syndrome semapv:UnspecifiedMatching MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Orphanet:88643 MONDO:equivalentTo Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv index 56bd1118..20bd1e86 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv @@ -8,12 +8,6 @@ MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe con MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder LEXMATCH MONDO:0016643 frontonasal dysplasia skos:broadMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0019530 non-syndromic syndactyly skos:broadMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome LEXMATCH -MONDO:0029137 hearing loss, autosomal dominant 74 skos:broadMatch DOID:0112165 autosomal dominant nonsyndromic deafness 74 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna74 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:broadMatch DOID:0112168 autosomal dominant nonsyndromic deafness 77 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna77 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:broadMatch DOID:0112166 autosomal dominant nonsyndromic deafness 75 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna75 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:broadMatch DOID:0112167 autosomal dominant nonsyndromic deafness 76 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna76 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:broadMatch DOID:0112159 autosomal dominant nonsyndromic deafness 78 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna78 LEXMATCH -MONDO:0033668 hearing loss, autosomal dominant 79 skos:broadMatch DOID:0112160 autosomal dominant nonsyndromic deafness 79 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna79 LEXMATCH -MONDO:0033670 hearing loss, autosomal recessive 116 skos:broadMatch DOID:0112162 autosomal recessive nonsyndromic deafness 116 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfnb116 LEXMATCH -MONDO:0800101 NMNAT1-related retinopathy skos:broadMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome LEXMATCH +MONDO:0100452 RPE65-related dominant retinopathy skos:broadMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH MONDO:0800101 NMNAT1-related retinopathy skos:broadMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis LEXMATCH +MONDO:0800101 NMNAT1-related retinopathy skos:broadMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index e71cd7db..33125983 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -6,9 +6,8 @@ MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch DOID:0080688 MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:257300 LEXMATCH MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:closeMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613155 LEXMATCH MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH -MONDO:0000509 non-syndromic intellectual disability skos:closeMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 LEXMATCH +MONDO:0001725 balanitis xerotica obliterans skos:closeMatch DOID:8738 leukoplakia of penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052798 LEXMATCH MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH -MONDO:0002803 intestinal pseudo-obstruction skos:closeMatch DOID:0080682 autosomal dominant familial visceral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 LEXMATCH MONDO:0003249 pineal gland cancer skos:closeMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pinealoma LEXMATCH MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:closeMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8315/3 LEXMATCH MONDO:0003424 oncocytic adenoma skos:closeMatch DOID:0081306 spindle cell oncocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8290/0 LEXMATCH @@ -28,58 +27,48 @@ MONDO:0006279 lung sarcomatoid carcinoma skos:closeMatch DOID:0080777 lung sarco MONDO:0006372 pituicytoma skos:closeMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9432/1 LEXMATCH MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0006411 sinonasal undifferentiated carcinoma skos:closeMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537344 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH MONDO:0006444 teratoma with malignant transformation skos:closeMatch DOID:0081246 teratoma with somatic-type malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9084/3 LEXMATCH MONDO:0006515 acute pancreatitis skos:closeMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019283 LEXMATCH MONDO:0006594 pemphigus skos:closeMatch DOID:0080850 pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010392 LEXMATCH MONDO:0006624 overactive bladder skos:closeMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053201 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome LEXMATCH MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome LEXMATCH MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita1 LEXMATCH +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome LEXMATCH MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkca1 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba1 LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam LEXMATCH MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567302 LEXMATCH MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 LEXMATCH MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch DOID:0080964 intracranial berry aneurysm 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 LEXMATCH MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch DOID:0080606 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 LEXMATCH MONDO:0007145 aplasia cutis congenita skos:closeMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da5 LEXMATCH MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da6 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness LEXMATCH +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hand abnormality and sensori-neural deafness LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 LEXMATCH +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 LEXMATCH +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 LEXMATCH MONDO:0007160 Stickler syndrome type 1 skos:closeMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 LEXMATCH MONDO:0007171 atrial standstill 1 skos:closeMatch DOID:0080662 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 LEXMATCH MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc1 LEXMATCH +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 LEXMATCH MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma LEXMATCH MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da3 LEXMATCH MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 LEXMATCH +MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 LEXMATCH MONDO:0007299 Sotos syndrome 1 skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 LEXMATCH -MONDO:0007299 Sotos syndrome 1 skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos1 LEXMATCH MONDO:0007364 arthrogryposis, distal, type 2E skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121070 LEXMATCH MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo5 LEXMATCH +MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080666 warfarin sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin sensitivity LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122700 LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin resistance LEXMATCH -MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080666 warfarin sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin sensitivity LEXMATCH MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080801 autosomal dominant craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 LEXMATCH MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch DOID:0080720 autosomal dominant congenital deafness with onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 LEXMATCH MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH @@ -89,232 +78,197 @@ MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch D MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch DOID:0080721 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 LEXMATCH MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 LEXMATCH MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537659 LEXMATCH MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 LEXMATCH +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537659 LEXMATCH MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 LEXMATCH MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562880 LEXMATCH MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 LEXMATCH MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial infiltrative fibromatosis LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fif LEXMATCH MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 LEXMATCH +MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial infiltrative fibromatosis LEXMATCH MONDO:0007636 frontorhiny skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia LEXMATCH MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym halp1 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 LEXMATCH +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 LEXMATCH MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:closeMatch DOID:0111953 immunodeficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 LEXMATCH MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147430 LEXMATCH MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome LEXMATCH +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmoplantaris striata type 1 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536162 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 LEXMATCH MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q31.5 LEXMATCH MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia LEXMATCH +MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 LEXMATCH MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 LEXMATCH MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 LEXMATCH +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535857 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da7 LEXMATCH MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cnm1 LEXMATCH MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch DOID:0111792 congenital nystagmus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164100 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567664 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH -MONDO:0008171 nephrolithiasis skos:closeMatch DOID:0080652 calcium oxalate nephrolithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167030 LEXMATCH -MONDO:0008302 centra precocious puberty 1 skos:closeMatch DOID:0112310 central precocious puberty 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cppb1 LEXMATCH +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch DOID:0112310 central precocious puberty 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph3 LEXMATCH MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 LEXMATCH MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 LEXMATCH MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566719 LEXMATCH MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als13 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 13 LEXMATCH +MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566719 LEXMATCH MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 13 LEXMATCH +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 13 LEXMATCH +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als13 LEXMATCH MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:closeMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183850 LEXMATCH MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:closeMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566660 LEXMATCH MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 LEXMATCH MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch DOID:0112295 spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535794 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia algerian type LEXMATCH +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 LEXMATCH +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535794 LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia sutcliffe type LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia corner fracture type LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdcf LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 LEXMATCH MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 LEXMATCH MONDO:0008512 syndactyly type 1 skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty1 LEXMATCH MONDO:0008512 syndactyly type 1 skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 LEXMATCH MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 LEXMATCH MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 LEXMATCH MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, type iii LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty4 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 LEXMATCH +MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 LEXMATCH MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haas type syndactyly LEXMATCH +MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 LEXMATCH MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566092 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty5 LEXMATCH MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with associated metacarpal and metatarsal fusion LEXMATCH +MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 LEXMATCH +MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 LEXMATCH MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch DOID:0081317 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 LEXMATCH -MONDO:0008545 thalassemia, beta+, silent allele skos:closeMatch DOID:0080774 thalassemia minor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187550 LEXMATCH MONDO:0008545 thalassemia, beta+, silent allele skos:closeMatch DOID:0080771 beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187550 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph1 LEXMATCH +MONDO:0008545 thalassemia, beta+, silent allele skos:closeMatch DOID:0080774 thalassemia minor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187550 LEXMATCH MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188050 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin thrombophilia LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188050 LEXMATCH MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin-related thrombophilia LEXMATCH +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect LEXMATCH +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188050 LEXMATCH +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin thrombophilia LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188055 LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph2 LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance LEXMATCH +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency LEXMATCH MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor LEXMATCH MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da2a LEXMATCH MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 LEXMATCH MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch DOID:0081237 acromesomelic dysplasia-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sox2 anophthalmia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia esophageal genital syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with associated anomalies LEXMATCH MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia esophageal genital syndrome LEXMATCH MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia microphthalmia esophageal atresia LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sox2 anophthalmia syndrome LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with associated anomalies LEXMATCH MONDO:0008803 Antley-Bixler syndrome skos:closeMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antley bixler syndrome LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch DOID:0080978 arthrogryposis multiplex congenita-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 LEXMATCH MONDO:0008849 atrophoderma vermiculata skos:closeMatch DOID:0080756 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd27a LEXMATCH MONDO:0008856 immunodeficiency 27A skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 LEXMATCH MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536320 LEXMATCH MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211390 LEXMATCH MONDO:0008926 COFS syndrome skos:closeMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:214150 LEXMATCH MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 LEXMATCH MONDO:0008966 Aagenaes syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH MONDO:0009009 hypoplasminogenemia skos:closeMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c580017 LEXMATCH MONDO:0009009 hypoplasminogenemia skos:closeMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch DOID:0080807 autosomal dominant craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 LEXMATCH MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 LEXMATCH +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia LEXMATCH MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym massive macronodular adrenocortical disorder LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aimah LEXMATCH MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia LEXMATCH +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia LEXMATCH MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmad LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcl2 LEXMATCH +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cutis laxa type ii classic type LEXMATCH MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 LEXMATCH MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537004 LEXMATCH MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 LEXMATCH MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 LEXMATCH MONDO:0009194 immunodeficiency 32B skos:closeMatch DOID:0111985 immunodeficiency 32B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 LEXMATCH MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch DOID:0080672 fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch DOID:0081237 acromesomelic dysplasia-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH MONDO:0009263 GAPO syndrome skos:closeMatch DOID:0112249 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 LEXMATCH MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga iii LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga3 LEXMATCH MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria iii LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 LEXMATCH +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga iii LEXMATCH MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency LEXMATCH MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 LEXMATCH +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 LEXMATCH MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 LEXMATCH MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565535 LEXMATCH MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233600 LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchidg LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567115 LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial pulmonary capillary hemangiomatosis LEXMATCH MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 LEXMATCH +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial pulmonary capillary hemangiomatosis LEXMATCH +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 LEXMATCH MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency LEXMATCH MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537257 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vodi LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmae LEXMATCH MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylcobalamin deficiency, cble type LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 LEXMATCH MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12-responsive homocystinuria, cble type LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria LEXMATCH +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 LEXMATCH MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536081 LEXMATCH MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 LEXMATCH +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl glutamate synthetase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nag synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl glutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 LEXMATCH MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch DOID:0081145 common variable immunodeficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 LEXMATCH -MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240800 LEXMATCH -MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lih LEXMATCH MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leucine-sensitive hypoglycemia of infancy LEXMATCH +MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240800 LEXMATCH MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 LEXMATCH MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hihghh LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 LEXMATCH MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 LEXMATCH MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd43 LEXMATCH +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565476 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565476 LEXMATCH MONDO:0009448 iminoglycinuria skos:closeMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 LEXMATCH MONDO:0009448 iminoglycinuria skos:closeMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 LEXMATCH MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 LEXMATCH +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 LEXMATCH MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 LEXMATCH MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 LEXMATCH MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 LEXMATCH MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 3 LEXMATCH MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 LEXMATCH MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smds LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia sedaghatian type LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metag LEXMATCH +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 LEXMATCH MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia LEXMATCH MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5 LEXMATCH MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia type iv LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmag LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 LEXMATCH +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565367 LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iii gamma LEXMATCH +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565367 LEXMATCH MONDO:0009693 plasma cell myeloma skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis LEXMATCH MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 LEXMATCH MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 LEXMATCH @@ -325,110 +279,96 @@ MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch DOID:0 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch DOID:0080390 nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 LEXMATCH MONDO:0009762 nystagmus, congenital, autosomal recessive skos:closeMatch DOID:0111797 autosomal recessive congenital nystagmus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257400 LEXMATCH MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 LEXMATCH MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch DOID:0112308 central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp LEXMATCH +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 LEXMATCH MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia (hpa) due to pterin-4-alpha-carbinolamine dehydratase deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 LEXMATCH MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0080699 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency LEXMATCH MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 LEXMATCH MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 LEXMATCH +MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency LEXMATCH MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sard deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcos LEXMATCH +MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency LEXMATCH +MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 LEXMATCH MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch DOID:0080612 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd48 LEXMATCH +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 LEXMATCH MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 LEXMATCH +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564796 LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with intellectual disability LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564796 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia short limb-hand type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564794 LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-abnormal calcification type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-hand type LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaepiphyseal dysplasia, short limb-hand type LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed type 2 LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564794 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaepiphyseal dysplasia, short limb-hand type LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia short limb-hand type LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-hand type LEXMATCH MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch DOID:0112195 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 LEXMATCH MONDO:0010090 Summitt syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH +MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation LEXMATCH MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 LEXMATCH MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch DOID:0112191 tetraamelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetams LEXMATCH +MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 LEXMATCH MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564766 LEXMATCH MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency LEXMATCH MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency LEXMATCH MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563206 LEXMATCH +MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency LEXMATCH MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 LEXMATCH MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562769 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency LEXMATCH MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 LEXMATCH MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562770 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 LEXMATCH +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 LEXMATCH +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency LEXMATCH MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562771 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair cancer syndrome LEXMATCH +MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 LEXMATCH MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome LEXMATCH +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair cancer syndrome LEXMATCH +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency LEXMATCH MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarrs LEXMATCH +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome LEXMATCH +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome LEXMATCH +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence of ulna and fibula with severe limb deficiency LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild/schinzel phocomelia syndrome LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocd LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 LEXMATCH MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536479 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome LEXMATCH +MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 LEXMATCH +MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency LEXMATCH +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome LEXMATCH MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome LEXMATCH +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome LEXMATCH MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbavd LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavd LEXMATCH MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch DOID:0112365 spondylocostal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo1 LEXMATCH MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch DOID:0080884 vitamin D-dependent rickets type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564741 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd1 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd LEXMATCH +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors LEXMATCH MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 LEXMATCH MONDO:0010201 Winchester syndrome skos:closeMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 LEXMATCH MONDO:0010201 Winchester syndrome skos:closeMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536709 LEXMATCH MONDO:0010208 wrinkly skin syndrome skos:closeMatch DOID:0112171 wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 LEXMATCH MONDO:0010208 wrinkly skin syndrome skos:closeMatch DOID:0112171 wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 LEXMATCH -MONDO:0010217 de Sanctis-Cacchione syndrome skos:closeMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535992 LEXMATCH MONDO:0010217 de Sanctis-Cacchione syndrome skos:closeMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278800 LEXMATCH +MONDO:0010217 de Sanctis-Cacchione syndrome skos:closeMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535992 LEXMATCH MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536729 LEXMATCH MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 LEXMATCH MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome LEXMATCH MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia LEXMATCH MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia LEXMATCH MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 LEXMATCH MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 LEXMATCH MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 LEXMATCH @@ -438,121 +378,112 @@ MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch DOID:0081043 fet MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564714 LEXMATCH MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 LEXMATCH MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd x-linked LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdx LEXMATCH MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch DOID:0112060 Raynaud-Claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 LEXMATCH MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 LEXMATCH MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx21 LEXMATCH MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops2 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia cataracts radiculomegaly and septal heart defects LEXMATCH +MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 2 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic microphthalmia type 2 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 2 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564570 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome LEXMATCH +MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia cataracts radiculomegaly and septal heart defects LEXMATCH MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr LEXMATCH +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome LEXMATCH +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564570 LEXMATCH +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx58 LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564554 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tod LEXMATCH MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia LEXMATCH -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx72 LEXMATCH +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 LEXMATCH +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome LEXMATCH +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd LEXMATCH +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564554 LEXMATCH MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcmsu LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564544 LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300280 LEXMATCH +MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx72 LEXMATCH MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency LEXMATCH +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300280 LEXMATCH +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564544 LEXMATCH MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:300291 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564539 LEXMATCH +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency LEXMATCH MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln LEXMATCH MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scnx LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538057 LEXMATCH +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564539 LEXMATCH MONDO:0010296 immunodeficiency 61 skos:closeMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH +MONDO:0010296 immunodeficiency 61 skos:closeMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538057 LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 LEXMATCH MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 LEXMATCH MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 LEXMATCH +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acsl4-related intellectual disability LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx63 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arx-related intellectual disability LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxarx LEXMATCH MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 LEXMATCH +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxarx LEXMATCH +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arx-related intellectual disability LEXMATCH MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 LEXMATCH MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx46 LEXMATCH MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 LEXMATCH +MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx46 LEXMATCH MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 LEXMATCH MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563023 LEXMATCH MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia myelodysplasia syndrome LEXMATCH MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 LEXMATCH MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 LEXMATCH MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination LEXMATCH -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564505 LEXMATCH MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 LEXMATCH -MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx45 LEXMATCH +MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564505 LEXMATCH MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 LEXMATCH +MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx45 LEXMATCH MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch DOID:0112030 non-syndromic X-linked intellectual disability 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 LEXMATCH MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch DOID:0080861 primary ovarian insufficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 LEXMATCH MONDO:0010350 premature ovarian failure 2A skos:closeMatch DOID:0080858 primary ovarian insufficiency 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300511 LEXMATCH MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch DOID:0112052 non-syndromic X-linked intellectual disability 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564491 LEXMATCH MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 LEXMATCH +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564491 LEXMATCH MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx30 LEXMATCH MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 LEXMATCH -MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300577 LEXMATCH MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx91 LEXMATCH +MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300577 LEXMATCH MONDO:0010367 SHOX-related short stature skos:closeMatch DOID:0112120 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 LEXMATCH MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch DOID:0111796 congenital nystagmus 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300589 LEXMATCH MONDO:0010373 premature ovarian failure 2B skos:closeMatch DOID:0080859 primary ovarian insufficiency 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300604 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfnx5 LEXMATCH MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 LEXMATCH MONDO:0010386 immunodeficiency 33 skos:closeMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567070 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd34 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567068 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010386 immunodeficiency 33 skos:closeMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567068 LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567067 LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567067 LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx93 LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300659 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566878 LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 LEXMATCH +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566878 LEXMATCH MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567478 LEXMATCH MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 LEXMATCH +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567478 LEXMATCH MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 LEXMATCH +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations LEXMATCH MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567475 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome LEXMATCH MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations LEXMATCH +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome LEXMATCH MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations LEXMATCH MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch DOID:0080687 reducing body myopathy 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 LEXMATCH MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx96 LEXMATCH MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 LEXMATCH MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz LEXMATCH MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx97 LEXMATCH -MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph8 LEXMATCH +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz LEXMATCH MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300807 LEXMATCH MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567581 LEXMATCH MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch DOID:0111795 congenital nystagmus 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300814 LEXMATCH -MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch DOID:0111795 congenital nystagmus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nys6 LEXMATCH MONDO:0010441 CK syndrome skos:closeMatch DOID:0111898 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 LEXMATCH MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch DOID:0112157 X-linked atrophic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 LEXMATCH MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch DOID:0112156 X-linked dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 LEXMATCH @@ -568,40 +499,34 @@ MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch DOID:0112053 MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 LEXMATCH MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia LEXMATCH MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch DOID:0080968 intracranial berry aneurysm 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca2 LEXMATCH MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies LEXMATCH MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 LEXMATCH MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 LEXMATCH MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx98 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops13 LEXMATCH +MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 LEXMATCH MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 LEXMATCH +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos LEXMATCH +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation LEXMATCH MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx99 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 LEXMATCH -MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300923 LEXMATCH MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx100 LEXMATCH -MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 LEXMATCH +MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300923 LEXMATCH MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx101 LEXMATCH +MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 LEXMATCH MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita2 LEXMATCH MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 LEXMATCH MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 LEXMATCH MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba14 LEXMATCH MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 LEXMATCH MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lsdmca3 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd5 LEXMATCH MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx12 LEXMATCH MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 LEXMATCH +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx12 LEXMATCH MONDO:0010498 MEND syndrome skos:closeMatch DOID:0111865 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 LEXMATCH MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 LEXMATCH -MONDO:0010504 immunodeficiency 47 skos:closeMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features LEXMATCH MONDO:0010504 immunodeficiency 47 skos:closeMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300972 LEXMATCH +MONDO:0010504 immunodeficiency 47 skos:closeMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features LEXMATCH MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 LEXMATCH MONDO:0010508 intellectual disability, X-linked 103 skos:closeMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300982 LEXMATCH MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 LEXMATCH @@ -611,41 +536,37 @@ MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch MONDO:0010515 Meester-Loeys syndrome skos:closeMatch DOID:0111861 Meester-Loeys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300989 LEXMATCH MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 LEXMATCH MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 LEXMATCH MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564461 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH +MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 LEXMATCH MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 LEXMATCH +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 LEXMATCH MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 LEXMATCH MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 LEXMATCH MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 LEXMATCH +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 LEXMATCH +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 LEXMATCH MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch DOID:0081164 dilated cardiomyopathy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 LEXMATCH MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax1 LEXMATCH -MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement early-onset LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302600 LEXMATCH +MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement early-onset LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 LEXMATCH MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 LEXMATCH MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfn3 LEXMATCH +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 LEXMATCH MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch DOID:0081060 X-linked nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1 LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1 LEXMATCH MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch DOID:0111388 X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch DOID:0111388 X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypx LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562515 LEXMATCH MONDO:0010621 CHILD syndrome skos:closeMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 LEXMATCH +MONDO:0010621 CHILD syndrome skos:closeMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562515 LEXMATCH MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans LEXMATCH +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 LEXMATCH MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 LEXMATCH MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 LEXMATCH @@ -653,72 +574,66 @@ MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMa MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile xe syndrome LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 LEXMATCH -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 LEXMATCH MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx9 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked mental retardation gustavson type LEXMATCH +MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 LEXMATCH MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion LEXMATCH +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked mental retardation gustavson type LEXMATCH MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 LEXMATCH +MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion LEXMATCH MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564100 LEXMATCH MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537466 LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:309801 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537466 LEXMATCH +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xrn LEXMATCH -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch DOID:0111790 congenital nystagmus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nys1 LEXMATCH +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch DOID:0111790 congenital nystagmus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310700 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmr1-related primary ovarian insufficiency LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile x-associated primary ovarian insufficiency LEXMATCH MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile x-associated primary ovarian insufficiency LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmr1-related primary ovarian insufficiency LEXMATCH MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch DOID:0080776 partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 LEXMATCH MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536692 LEXMATCH +MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 LEXMATCH MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch DOID:0080887 vitamin D-dependent rickets type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 LEXMATCH -MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:closeMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600093 LEXMATCH MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:closeMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564003 LEXMATCH +MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:closeMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600093 LEXMATCH MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome LEXMATCH +MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH +MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis LEXMATCH MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch DOID:0111706 oblique facial clefting 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 LEXMATCH MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch DOID:0070343 CSF1R-related brain malformation and osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 LEXMATCH MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 LEXMATCH MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch DOID:0080885 vitamin D-dependent rickets type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym murcs LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 LEXMATCH MONDO:0011014 pleuropulmonary blastoma skos:closeMatch DOID:0081063 DICER1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 LEXMATCH MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch DOID:0080680 neuronal intestinal dysplasia type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 LEXMATCH MONDO:0011045 MMEP syndrome skos:closeMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537686 LEXMATCH +MONDO:0011045 MMEP syndrome skos:closeMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 LEXMATCH MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 LEXMATCH MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd1 LEXMATCH MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch DOID:0081016 congenital fibrosis of the extraocular muscles 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articulatory apraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental apraxia of speech LEXMATCH MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articulatory apraxia LEXMATCH MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder-1 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental apraxia of speech LEXMATCH MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd axial LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdax LEXMATCH +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 LEXMATCH MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 LEXMATCH MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjcd LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis LEXMATCH +MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome LEXMATCH +MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch DOID:0081102 familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 LEXMATCH MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 LEXMATCH MONDO:0011381 dominant beta-thalassemia skos:closeMatch DOID:0080770 autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 LEXMATCH MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency LEXMATCH +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 LEXMATCH MONDO:0011493 Stickler syndrome type 2 skos:closeMatch DOID:0080675 Stickler syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 LEXMATCH @@ -728,61 +643,53 @@ MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:cl MONDO:0011603 GNE myopathy skos:closeMatch DOID:0080718 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 LEXMATCH MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 LEXMATCH MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 LEXMATCH MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536130 LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba2 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba15 LEXMATCH +MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 LEXMATCH MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565232 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd41 LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency LEXMATCH MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 LEXMATCH MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 LEXMATCH MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:607095 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564608 LEXMATCH +MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 LEXMATCH MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tdh6 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 LEXMATCH +MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564608 LEXMATCH MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 LEXMATCH +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 LEXMATCH MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch DOID:0081178 autosomal recessive intellectual developmental disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis1 LEXMATCH MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 LEXMATCH MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 LEXMATCH MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564393 LEXMATCH MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 LEXMATCH -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd2 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 LEXMATCH MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism LEXMATCH +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism LEXMATCH MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 LEXMATCH +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 LEXMATCH MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch DOID:0081144 common variable immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 LEXMATCH +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy LEXMATCH MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 LEXMATCH MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536163 LEXMATCH MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 LEXMATCH +MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536163 LEXMATCH MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch DOID:0081116 benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 LEXMATCH MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 LEXMATCH -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsgs3 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566440 LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566440 LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 LEXMATCH MONDO:0011959 sweet syndrome skos:closeMatch DOID:0080746 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 LEXMATCH MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564275 LEXMATCH +MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 LEXMATCH MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9875/3 LEXMATCH MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch DOID:0111793 congenital nystagmus 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608345 LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msma LEXMATCH MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564252 LEXMATCH +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 LEXMATCH +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk LEXMATCH MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch DOID:0081179 autosomal recessive intellectual developmental disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 LEXMATCH MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch DOID:0080410 familial adenomatous polyposis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 LEXMATCH MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch DOID:0080965 intracranial berry aneurysm 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 LEXMATCH @@ -790,19 +697,16 @@ MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorph MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 LEXMATCH MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 LEXMATCH MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 2 LEXMATCH -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo2 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdcrd LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563825 LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563825 LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 LEXMATCH MONDO:0012169 premature ovarian failure 3 skos:closeMatch DOID:0080860 primary ovarian insufficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608996 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563803 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia type a4 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 LEXMATCH +MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia type a4 LEXMATCH MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch DOID:0080966 intracranial berry aneurysm 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563791 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym da4 LEXMATCH MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 LEXMATCH MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonautoimmune hyperthyroidism LEXMATCH MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:closeMatch DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609223 LEXMATCH @@ -810,23 +714,21 @@ MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 LEXMATCH MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch DOID:0081019 congenital fibrosis of the extraocular muscles 3C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536925 LEXMATCH MONDO:0012270 Tukel syndrome skos:closeMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 LEXMATCH +MONDO:0012270 Tukel syndrome skos:closeMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536925 LEXMATCH MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch DOID:0081237 acromesomelic dysplasia-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch DOID:0080682 autosomal dominant familial visceral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 LEXMATCH MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 7q11.23 duplication syndrome LEXMATCH MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome LEXMATCH MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 LEXMATCH MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 LEXMATCH -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo3 LEXMATCH MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 3 LEXMATCH +MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 LEXMATCH MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565223 LEXMATCH MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd54 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566492 LEXMATCH MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566492 LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 LEXMATCH MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 LEXMATCH MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566483 LEXMATCH MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 LEXMATCH @@ -834,31 +736,28 @@ MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:c MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 LEXMATCH MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566441 LEXMATCH MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd25 LEXMATCH MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency due to defect in cd3-zeta LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565712 LEXMATCH MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 LEXMATCH +MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565712 LEXMATCH MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch DOID:0080967 intracranial berry aneurysm 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 LEXMATCH MONDO:0012455 Kleefstra syndrome skos:closeMatch DOID:0080597 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:610253 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 LEXMATCH MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 LEXMATCH +MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 LEXMATCH MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 LEXMATCH MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses LEXMATCH MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563678 LEXMATCH MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 LEXMATCH MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 LEXMATCH MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566470 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH +MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 LEXMATCH MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 LEXMATCH +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 LEXMATCH MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536355 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba3 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn3 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 LEXMATCH MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565185 LEXMATCH +MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 LEXMATCH MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 LEXMATCH +MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565185 LEXMATCH MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565184 LEXMATCH MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 LEXMATCH MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch DOID:0081180 autosomal recessive intellectual developmental disorder 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 LEXMATCH @@ -872,115 +771,98 @@ MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch DOI MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 LEXMATCH MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567006 LEXMATCH MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moba LEXMATCH MONDO:0012682 immunodeficiency 35 skos:closeMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 LEXMATCH MONDO:0012682 immunodeficiency 35 skos:closeMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566928 LEXMATCH MONDO:0012689 premature ovarian failure 5 skos:closeMatch DOID:0080862 primary ovarian insufficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611548 LEXMATCH MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 LEXMATCH MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566908 LEXMATCH MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:closeMatch DOID:0112302 spondylometaphyseal dysplasia East African type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611702 LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567128 LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567128 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech LEXMATCH MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch DOID:0080969 intracranial berry aneurysm 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH +MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 LEXMATCH MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567425 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome LEXMATCH MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 LEXMATCH +MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome LEXMATCH MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 LEXMATCH MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch DOID:0080970 intracranial berry aneurysm 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 LEXMATCH MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch DOID:0080971 intracranial berry aneurysm 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive protein c deficiency LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph4 LEXMATCH MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 LEXMATCH MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567353 LEXMATCH +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive protein c deficiency LEXMATCH MONDO:0012861 premature ovarian failure 6 skos:closeMatch DOID:0080863 primary ovarian insufficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612310 LEXMATCH MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph5 LEXMATCH -MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612348 LEXMATCH MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567341 LEXMATCH +MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612348 LEXMATCH MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612356 LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heparin cofactor ii deficiency LEXMATCH MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf type 2 deficiency LEXMATCH +MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heparin cofactor ii deficiency LEXMATCH MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562865 LEXMATCH +MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612356 LEXMATCH MONDO:0012883 acute promyelocytic leukemia skos:closeMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9866/3 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba4 LEXMATCH MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567281 LEXMATCH MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba5 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 LEXMATCH MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567280 LEXMATCH +MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 LEXMATCH MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba6 LEXMATCH MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 LEXMATCH MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567254 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba7 LEXMATCH MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567253 LEXMATCH MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba8 LEXMATCH MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch DOID:0080972 intracranial berry aneurysm 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 LEXMATCH MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch DOID:0080973 intracranial berry aneurysm 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 LEXMATCH MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch DOID:0081117 benign familial infantile seizures 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 LEXMATCH MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 LEXMATCH MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch DOID:0081138 agammaglobulinemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd9 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557826 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd10 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 LEXMATCH +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557827 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency LEXMATCH +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 LEXMATCH MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 LEXMATCH MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565102 LEXMATCH +MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 LEXMATCH MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 LEXMATCH MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 LEXMATCH MONDO:0013065 premature ovarian failure 7 skos:closeMatch DOID:0080864 primary ovarian insufficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612964 LEXMATCH MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal nonepidermolytic palmoplantar keratoderma LEXMATCH MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 LEXMATCH MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc2 LEXMATCH MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 3 LEXMATCH MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc3 LEXMATCH MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch DOID:0112131 severe congenital neutropenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn2 LEXMATCH MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch DOID:0112131 severe congenital neutropenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph11 LEXMATCH MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 LEXMATCH MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 LEXMATCH +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 LEXMATCH MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 LEXMATCH +MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 LEXMATCH MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 LEXMATCH MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba9 LEXMATCH MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567650 LEXMATCH MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba10 LEXMATCH MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567649 LEXMATCH MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smdmdm LEXMATCH MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613339 LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch DOID:0081107 hot water epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 LEXMATCH MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613388 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 LEXMATCH MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 LEXMATCH +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 LEXMATCH MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 LEXMATCH MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 LEXMATCH MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch DOID:0081146 common variable immunodeficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 LEXMATCH @@ -993,48 +875,37 @@ MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreducta MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 2 LEXMATCH MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 LEXMATCH MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 4 LEXMATCH -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo4 LEXMATCH MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 LEXMATCH +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 4 LEXMATCH MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 LEXMATCH +MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 LEXMATCH MONDO:0013427 immunodeficiency 31B skos:closeMatch DOID:0111944 immunodeficiency 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch DOID:0111944 immunodeficiency 31B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31b LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome type 3 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf5 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd51 LEXMATCH MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 LEXMATCH +MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf5 LEXMATCH MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch DOID:0080931 primary localized cutaneous amyloidosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis4 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 LEXMATCH MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly LEXMATCH +MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 LEXMATCH MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch DOID:0081188 autosomal recessive intellectual developmental disorder 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpd4 LEXMATCH MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 LEXMATCH MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 LEXMATCH MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 LEXMATCH MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31c LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf7 LEXMATCH +MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 LEXMATCH MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 LEXMATCH MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c LEXMATCH MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch DOID:0080729 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614170 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dcml LEXMATCH +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd21 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 LEXMATCH MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:closeMatch DOID:0080380 nephrotic syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614199 LEXMATCH MONDO:0013624 Rafiq syndrome skos:closeMatch DOID:0081097 Rafiq syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 LEXMATCH MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch DOID:0081189 autosomal recessive intellectual developmental disorder 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 LEXMATCH MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc4 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 LEXMATCH +MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 LEXMATCH MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc5 LEXMATCH +MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 LEXMATCH MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch DOID:0081190 autosomal recessive intellectual developmental disorder 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 LEXMATCH MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch DOID:0080974 intracranial berry aneurysm 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 LEXMATCH MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch DOID:0081191 autosomal recessive intellectual developmental disorder 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 LEXMATCH @@ -1048,120 +919,91 @@ MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch DO MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch DOID:0081199 autosomal recessive intellectual developmental disorder 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 LEXMATCH MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch DOID:0080806 cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614378 LEXMATCH MONDO:0013730 graft versus host disease skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 LEXMATCH -MONDO:0013734 microphthalmia, syndromic 11 skos:closeMatch DOID:0111804 syndromic microphthalmia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops11 LEXMATCH MONDO:0013734 microphthalmia, syndromic 11 skos:closeMatch DOID:0111804 syndromic microphthalmia 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614402 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adcl2 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 LEXMATCH MONDO:0013773 porencephaly 2 skos:closeMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 LEXMATCH MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566057 LEXMATCH +MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 LEXMATCH MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph12 LEXMATCH MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch DOID:0081200 autosomal recessive intellectual developmental disorder 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 LEXMATCH MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 LEXMATCH -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thph6 LEXMATCH MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch DOID:0080673 fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614524 LEXMATCH MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 LEXMATCH MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614583 LEXMATCH MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch DOID:0081150 common variable immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 LEXMATCH MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch DOID:0081151 common variable immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 LEXMATCH MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos2 LEXMATCH +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 LEXMATCH MONDO:0013885 Malan overgrowth syndrome skos:closeMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 LEXMATCH MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 LEXMATCH MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch DOID:0111791 congenital nystagmus 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614826 LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsma5 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd28 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 28, mycobacteriosis LEXMATCH MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 LEXMATCH +MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 28, mycobacteriosis LEXMATCH +MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd29 LEXMATCH +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd30 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd31a LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a LEXMATCH MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd32a LEXMATCH +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba11 LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant LEXMATCH MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 LEXMATCH MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch DOID:0111729 familial episodic pain syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feps1 LEXMATCH MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch DOID:0111729 familial episodic pain syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 LEXMATCH MONDO:0014046 Cowden syndrome 4 skos:closeMatch DOID:0081000 Cowden syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 LEXMATCH MONDO:0014047 Cowden syndrome 5 skos:closeMatch DOID:0081001 Cowden syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 LEXMATCH MONDO:0014048 Cowden syndrome 6 skos:closeMatch DOID:0081002 Cowden syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 LEXMATCH MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch DOID:0081201 autosomal recessive intellectual developmental disorder 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis5 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 LEXMATCH MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 LEXMATCH +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 LEXMATCH MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch DOID:0081111 osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd11a LEXMATCH MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 LEXMATCH MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd56 LEXMATCH +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 LEXMATCH +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 LEXMATCH MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch DOID:0081139 agammaglobulinemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 LEXMATCH MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 LEXMATCH +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 LEXMATCH MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn5 LEXMATCH MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 LEXMATCH MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 LEXMATCH MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch DOID:0080788 proximal symphalangism 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 LEXMATCH -MONDO:0014137 precocious puberty, central, 2 skos:closeMatch DOID:0112309 central precocious puberty 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cppb2 LEXMATCH MONDO:0014137 precocious puberty, central, 2 skos:closeMatch DOID:0112309 central precocious puberty 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 LEXMATCH MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 LEXMATCH MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 LEXMATCH MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch DOID:0081157 dilated cardiomyopathy 1LL semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 LEXMATCH MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch DOID:0081158 dilated cardiomyopathy 1MM semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 LEXMATCH MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd12 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome LEXMATCH +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 LEXMATCH MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg79 LEXMATCH +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome LEXMATCH MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 LEXMATCH MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch DOID:0081202 autosomal recessive intellectual developmental disorder 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 LEXMATCH MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr LEXMATCH +MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 LEXMATCH MONDO:0014222 immunodeficiency 14 skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd14 LEXMATCH MONDO:0014222 immunodeficiency 14 skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome LEXMATCH MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch DOID:0081203 autosomal recessive intellectual developmental disorder 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 LEXMATCH MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 LEXMATCH MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 13 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd13 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icl LEXMATCH MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic cd4 lymphopenia LEXMATCH -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops12 LEXMATCH MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 LEXMATCH MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch DOID:0081204 autosomal recessive intellectual developmental disorder 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 LEXMATCH MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch DOID:0111715 Schaaf-Yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch DOID:0111882 Diamond-Blackfan anemia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba12 LEXMATCH MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch DOID:0111882 Diamond-Blackfan anemia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch DOID:0111731 familial episodic pain syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feps3 LEXMATCH MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch DOID:0111731 familial episodic pain syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 LEXMATCH MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch DOID:0081152 common variable immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 LEXMATCH MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch DOID:0111959 immunodeficiency 15B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd16 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency LEXMATCH +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 LEXMATCH MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch DOID:0081205 autosomal recessive intellectual developmental disorder 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 LEXMATCH MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch DOID:0080759 Fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 LEXMATCH MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 LEXMATCH @@ -1169,96 +1011,72 @@ MONDO:0014278 immunodeficiency 18 skos:closeMatch DOID:0111971 immunodeficiency MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency LEXMATCH MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive LEXMATCH MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd19 LEXMATCH MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch DOID:0081206 autosomal recessive intellectual developmental disorder 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd20 LEXMATCH MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 LEXMATCH +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 LEXMATCH MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 LEXMATCH MONDO:0014321 premature ovarian failure 8 skos:closeMatch DOID:0080865 primary ovarian insufficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615723 LEXMATCH MONDO:0014322 premature ovarian failure 9 skos:closeMatch DOID:0080866 primary ovarian insufficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615724 LEXMATCH MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppknefd LEXMATCH MONDO:0014329 atrial standstill 2 skos:closeMatch DOID:0080663 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 LEXMATCH MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch DOID:0080924 bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd22 LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 LEXMATCH MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch DOID:0081153 common variable immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 LEXMATCH MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 LEXMATCH MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 LEXMATCH MONDO:0014353 immunodeficiency 23 skos:closeMatch DOID:0111953 immunodeficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 LEXMATCH MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch DOID:0081207 autosomal recessive intellectual developmental disorder 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops14 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcsks LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome LEXMATCH MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 LEXMATCH -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tbrs LEXMATCH -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome LEXMATCH +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome LEXMATCH MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 LEXMATCH +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome LEXMATCH MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch DOID:0080686 tubular aggregate myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 LEXMATCH MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 LEXMATCH MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd24 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba13 LEXMATCH MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 LEXMATCH MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch DOID:0081208 autosomal recessive intellectual developmental disorder 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 LEXMATCH MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd26 LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 LEXMATCH MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 LEXMATCH MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch DOID:0081209 autosomal recessive intellectual developmental disorder 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:closeMatch DOID:0111949 immunodeficiency 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd36 LEXMATCH MONDO:0014453 immunodeficiency 36 skos:closeMatch DOID:0111949 immunodeficiency 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 LEXMATCH MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn6 LEXMATCH MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch DOID:0080760 Fanconi renotubular syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616026 LEXMATCH MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch DOID:0112334 pontocerebellar hypoplasia type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 LEXMATCH -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch DOID:0112334 pontocerebellar hypoplasia type 1C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1c LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgc12 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 LEXMATCH MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related LEXMATCH -MONDO:0014491 immunodeficiency 37 skos:closeMatch DOID:0111939 immunodeficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd37 LEXMATCH +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 LEXMATCH MONDO:0014491 immunodeficiency 37 skos:closeMatch DOID:0111939 immunodeficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616098 LEXMATCH MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch DOID:0081210 autosomal recessive intellectual developmental disorder 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd38 LEXMATCH MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification LEXMATCH MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38, mycobacteriosis, autosomal recessive LEXMATCH +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification LEXMATCH +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catel manzke syndrome LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 LEXMATCH MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch DOID:0081243 rhizomelic chondrodysplasia punctate type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 LEXMATCH MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch DOID:0081211 autosomal recessive intellectual developmental disorder 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 LEXMATCH MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome LEXMATCH MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 LEXMATCH MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch DOID:0112236 lissencephaly 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 LEXMATCH -MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch DOID:0112236 lissencephaly 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis6 LEXMATCH MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch DOID:0081020 congenital fibrosis of the extraocular muscles 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 LEXMATCH MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch DOID:0081212 autosomal recessive intellectual developmental disorder 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 LEXMATCH MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch DOID:0081134 3-methylglutaconic aciduria type 7b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 LEXMATCH MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:closeMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616342 LEXMATCH -MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:closeMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis7 LEXMATCH MONDO:0014597 immunodeficiency 39 skos:closeMatch DOID:0111969 immunodeficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616345 LEXMATCH -MONDO:0014597 immunodeficiency 39 skos:closeMatch DOID:0111969 immunodeficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd39 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch DOID:0111869 photosensitive trichothiodystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd2 LEXMATCH MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch DOID:0111869 photosensitive trichothiodystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch DOID:0111871 photosensitive trichothiodystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd3 LEXMATCH MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch DOID:0111871 photosensitive trichothiodystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 LEXMATCH MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fneppk2 LEXMATCH MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder LEXMATCH MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 LEXMATCH MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch DOID:0080411 familial adenomatous polyposis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 LEXMATCH MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd40 LEXMATCH MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 LEXMATCH MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch DOID:0081213 autosomal recessive intellectual developmental disorder 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 LEXMATCH -MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo6 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 6 LEXMATCH MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565035 LEXMATCH MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 LEXMATCH @@ -1275,19 +1093,16 @@ MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:011194 MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency due to tfrc deficiency LEXMATCH MONDO:0014802 Cowden syndrome 7 skos:closeMatch DOID:0081003 Cowden syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616858 LEXMATCH MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch DOID:0081155 common variable immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavipmr LEXMATCH MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 LEXMATCH +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation LEXMATCH MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch DOID:0081215 autosomal recessive intellectual developmental disorder 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css5 LEXMATCH MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616938 LEXMATCH +MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 LEXMATCH MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch DOID:0081140 agammaglobulinemia 8A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 LEXMATCH MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch DOID:0111872 nonphotosensitive trichothiodystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 LEXMATCH MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080868 primary ovarian insufficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080869 primary ovarian insufficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn7 LEXMATCH MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch DOID:0112329 pontocerebellar hypoplasia type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 LEXMATCH MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch DOID:0081216 autosomal recessive intellectual developmental disorder 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 LEXMATCH MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch DOID:0081118 benign familial infantile seizures 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 LEXMATCH @@ -1314,15 +1129,9 @@ MONDO:0015020 intellectual disability, autosomal recessive 59 skos:closeMatch DO MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:closeMatch DOID:0081176 hypotonia, ataxia, and delayed development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617330 LEXMATCH MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:617468 LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565097 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 LEXMATCH MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 LEXMATCH MONDO:0015588 limbic encephalitis skos:closeMatch DOID:0080741 limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020363 LEXMATCH MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 LEXMATCH MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH @@ -1330,12 +1139,12 @@ MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch DOID:0112322 pon MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch DOID:0080724 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:127000 LEXMATCH MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH MONDO:0016584 mandibuloacral dysplasia skos:closeMatch DOID:0081127 mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:248370 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch DOID:0080843 supratentorial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH MONDO:0016642 meningioma skos:closeMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 LEXMATCH +MONDO:0016642 meningioma skos:closeMatch DOID:0080843 supratentorial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH MONDO:0016643 frontonasal dysplasia skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:136760 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH +MONDO:0016643 frontonasal dysplasia skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 LEXMATCH MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0080876 IDH-wildtype anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH @@ -1350,16 +1159,15 @@ MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch DOID:0080705 MONDO:0016723 pineocytoma skos:closeMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9361/1 LEXMATCH MONDO:0016724 papillary tumor of the pineal region skos:closeMatch DOID:0081251 papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9395/3 LEXMATCH MONDO:0016727 extraventricular neurocytoma skos:closeMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9506/1 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081285 myxoid glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH +MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH +MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 LEXMATCH MONDO:0017169 multiple endocrine neoplasia skos:closeMatch DOID:3125 multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009377 LEXMATCH MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000069293 LEXMATCH MONDO:0017347 plasmablastic lymphoma skos:closeMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9735/3 LEXMATCH +MONDO:0017347 plasmablastic lymphoma skos:closeMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000069293 LEXMATCH MONDO:0017439 tetra-amelia skos:closeMatch DOID:0112191 tetraamelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetra-amelia syndrome LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH @@ -1368,28 +1176,19 @@ MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch DOID:0 MONDO:0018053 trichothiodystrophy skos:closeMatch DOID:0111866 trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:601675 LEXMATCH MONDO:0018177 glioblastoma skos:closeMatch DOID:0080878 IDH-wildtype glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9440/3 LEXMATCH MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch DOID:0070348 spinal muscular atrophy with lower extremity predominant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:158600 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch DOID:0112374 muscular dystrophy-dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy due to dystroglycanopathy LEXMATCH -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH -MONDO:0018277 congenital muscular dystrophy with cerebellar involvement skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c585640 LEXMATCH MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch DOID:0080751 keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 LEXMATCH MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9867/3 LEXMATCH +MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9861/3 LEXMATCH MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9861/3 LEXMATCH MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcops1 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 1 LEXMATCH MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz dysplasia LEXMATCH +MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 1 LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564038 LEXMATCH MONDO:0018974 paraneoplastic pemphigus skos:closeMatch DOID:0080852 paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:l10.81 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 LEXMATCH MONDO:0019082 bullous pemphigoid skos:closeMatch DOID:0080841 pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid LEXMATCH MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 LEXMATCH MONDO:0019127 polymyositis skos:closeMatch DOID:0080745 polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 LEXMATCH @@ -1399,57 +1198,43 @@ MONDO:0019154 androgen insensitivity syndrome skos:closeMatch DOID:0080775 compl MONDO:0019155 Leydig cell hypoplasia skos:closeMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024406 LEXMATCH MONDO:0019155 Leydig cell hypoplasia skos:closeMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562567 LEXMATCH MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH MONDO:0019284 inherited isolated nail anomaly skos:closeMatch DOID:0080683 nonsyndromic congenital nail disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:161050 LEXMATCH MONDO:0019297 lymphedema skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008209 LEXMATCH MONDO:0019313 lymphatic malformation skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0019344 antisynthetase syndrome skos:closeMatch DOID:0080744 antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 LEXMATCH MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch DOID:6785 desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8806/3 LEXMATCH MONDO:0019438 AL amyloidosis skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym light chain amyloidosis LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis beta2m LEXMATCH MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:0010563 LEXMATCH +MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis beta2m LEXMATCH MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9895/3 LEXMATCH MONDO:0019458 acute basophilic leukemia skos:closeMatch DOID:0080795 acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9870/3 LEXMATCH MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9833/3 LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081309 grade II lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9834/3 LEXMATCH MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch DOID:0080797 nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9719/3 LEXMATCH MONDO:0019479 histiocytic sarcoma skos:closeMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9755/3 LEXMATCH MONDO:0019479 histiocytic sarcoma skos:closeMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch DOID:0081206 autosomal recessive intellectual developmental disorder 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch DOID:0081205 autosomal recessive intellectual developmental disorder 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch DOID:0081202 autosomal recessive intellectual developmental disorder 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch DOID:0081204 autosomal recessive intellectual developmental disorder 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 LEXMATCH MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch DOID:0080726 Ehlers-Danlos syndrome classic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH MONDO:0019624 acquired angioedema skos:closeMatch DOID:0080941 acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 LEXMATCH MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH -MONDO:0019946 ligneous conjunctivitis skos:closeMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 LEXMATCH MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch DOID:0081094 acute myeloid leukemia with MLL rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9897/3 LEXMATCH MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9874/3 LEXMATCH MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9712/3 LEXMATCH -MONDO:0020381 patterned macular dystrophy skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king denborough syndrome LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 LEXMATCH +MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH MONDO:0020496 familial porencephaly skos:closeMatch DOID:0112313 brain small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:175780 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 LEXMATCH MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 LEXMATCH MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 LEXMATCH MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 LEXMATCH MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 LEXMATCH MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 LEXMATCH MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 LEXMATCH -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch DOID:0112365 spondylocostal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scdo1 LEXMATCH MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch DOID:0112365 spondylocostal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 LEXMATCH MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265450 LEXMATCH MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 LEXMATCH @@ -1457,12 +1242,11 @@ MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch D MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch DOID:0080886 vitamin D-dependent rickets type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 LEXMATCH MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch DOID:0081136 agammaglobulinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 LEXMATCH MONDO:0020733 proximal symphalangism 1A skos:closeMatch DOID:0080787 proximal symphalangism 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia LEXMATCH MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia LEXMATCH MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia LEXMATCH +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia LEXMATCH MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia LEXMATCH MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch DOID:0112242 congenital symmetric circumferential skin creases 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 LEXMATCH -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch DOID:0112242 congenital symmetric circumferential skin creases 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cscsc1 LEXMATCH MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch DOID:0081078 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy LEXMATCH @@ -1490,9 +1274,9 @@ MONDO:0023227 gestational diabetes insipidus skos:closeMatch DOID:0081057 gestat MONDO:0023664 spermatogenic failure 54 skos:closeMatch DOID:0112335 spermatogenic failure 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619379 LEXMATCH MONDO:0023670 Bardet-Biedl syndrome 20 skos:closeMatch DOID:0081009 Bardet-Biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619471 LEXMATCH MONDO:0023671 oculopharyngodistal myopathy 3 skos:closeMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619473 LEXMATCH +MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081106 hot water epilepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081106 hot water epilepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch DOID:0080930 primary localized cutaneous amyloidosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 LEXMATCH MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch DOID:0080757 Fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 LEXMATCH MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 LEXMATCH @@ -1502,46 +1286,33 @@ MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch DOID:0080717 in MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:164310 LEXMATCH MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch DOID:0112274 X-linked spermatogenic failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 LEXMATCH MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch DOID:0112370 Coffin-Siris syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619325 LEXMATCH -MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch DOID:0112099 nuclear type mitochondrial complex I deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn12 LEXMATCH MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch DOID:0112099 nuclear type mitochondrial complex I deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 LEXMATCH -MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch DOID:0112098 nuclear type mitochondrial complex I deficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn30 LEXMATCH MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch DOID:0112098 nuclear type mitochondrial complex I deficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 LEXMATCH -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome LEXMATCH -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mkms LEXMATCH MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301022 LEXMATCH -MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch DOID:0111844 X-linked intellectual developmental disorder 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx108 LEXMATCH +MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome LEXMATCH MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch DOID:0111844 X-linked intellectual developmental disorder 108 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301024 LEXMATCH MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paganini-miozzo syndrome LEXMATCH MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301025 LEXMATCH -MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxspm LEXMATCH MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shuver LEXMATCH MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shukla-vernon syndrome LEXMATCH MONDO:0026729 congenital disorder of glycosylation, type ICC skos:closeMatch DOID:0111839 congenital disorder of glycosylation Icc semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301031 LEXMATCH MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch DOID:0111838 Basilicata-Akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301032 LEXMATCH -MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch DOID:0111837 congenital nongoitrous hypothyroidism 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng8 LEXMATCH MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch DOID:0111837 congenital nongoitrous hypothyroidism 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301033 LEXMATCH -MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch DOID:0111835 congenital nongoitrous hypothyroidism 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng9 LEXMATCH MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch DOID:0111835 congenital nongoitrous hypothyroidism 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301035 LEXMATCH -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency LEXMATCH -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd74 LEXMATCH MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301051 LEXMATCH +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency LEXMATCH MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection LEXMATCH MONDO:0026777 VEXAS syndrome skos:closeMatch DOID:0080828 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 LEXMATCH MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 skos:closeMatch DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500014 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 58 LEXMATCH MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd58 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related LEXMATCH MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch DOID:0112165 autosomal dominant nonsyndromic deafness 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 LEXMATCH MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf33 LEXMATCH MONDO:0029147 spermatogenic failure 33 skos:closeMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 33 LEXMATCH MONDO:0029147 spermatogenic failure 33 skos:closeMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf34 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 LEXMATCH MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 LEXMATCH +MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 LEXMATCH MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch DOID:0112117 combined oxidative phosphorylation deficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 LEXMATCH MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:closeMatch DOID:0112119 combined oxidative phosphorylation deficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618838 LEXMATCH MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:closeMatch DOID:0112118 combined oxidative phosphorylation deficiency 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618839 LEXMATCH @@ -1620,289 +1391,199 @@ MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:c MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:closeMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:213980 LEXMATCH MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 LEXMATCH MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 83 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp83 LEXMATCH MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch DOID:0081159 dilated cardiomyopathy 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 LEXMATCH MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd15a LEXMATCH MONDO:0032599 immunodeficiency 15a skos:closeMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 15a LEXMATCH MONDO:0032599 immunodeficiency 15a skos:closeMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 LEXMATCH MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 LEXMATCH MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 84 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp84 LEXMATCH MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch DOID:0081227 autosomal recessive intellectual developmental disorder 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 LEXMATCH MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch DOID:0112083 nuclear type mitochondrial complex I deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 LEXMATCH -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch DOID:0112083 nuclear type mitochondrial complex I deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn2 LEXMATCH MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch DOID:0112093 nuclear type mitochondrial complex I deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 LEXMATCH -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch DOID:0112093 nuclear type mitochondrial complex I deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn3 LEXMATCH MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch DOID:0112082 nuclear type mitochondrial complex I deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 LEXMATCH -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch DOID:0112082 nuclear type mitochondrial complex I deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn4 LEXMATCH -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch DOID:0112068 nuclear type mitochondrial complex I deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn5 LEXMATCH MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch DOID:0112068 nuclear type mitochondrial complex I deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 LEXMATCH -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch DOID:0112066 nuclear type mitochondrial complex I deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn6 LEXMATCH MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch DOID:0112066 nuclear type mitochondrial complex I deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 LEXMATCH MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch DOID:0112092 nuclear type mitochondrial complex I deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 LEXMATCH -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch DOID:0112092 nuclear type mitochondrial complex I deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn7 LEXMATCH -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch DOID:0112081 nuclear type mitochondrial complex I deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn8 LEXMATCH MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch DOID:0112081 nuclear type mitochondrial complex I deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 LEXMATCH -MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch DOID:0112073 nuclear type mitochondrial complex I deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn9 LEXMATCH MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch DOID:0112073 nuclear type mitochondrial complex I deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618232 LEXMATCH -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch DOID:0112075 nuclear type mitochondrial complex I deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn10 LEXMATCH MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch DOID:0112075 nuclear type mitochondrial complex I deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 LEXMATCH -MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch DOID:0112089 nuclear type mitochondrial complex I deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn11 LEXMATCH MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch DOID:0112089 nuclear type mitochondrial complex I deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618234 LEXMATCH -MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch DOID:0112076 nuclear type mitochondrial complex I deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn13 LEXMATCH MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch DOID:0112076 nuclear type mitochondrial complex I deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618235 LEXMATCH -MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch DOID:0112094 nuclear type mitochondrial complex I deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn14 LEXMATCH MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch DOID:0112094 nuclear type mitochondrial complex I deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618236 LEXMATCH -MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch DOID:0112077 nuclear type mitochondrial complex I deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn15 LEXMATCH MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch DOID:0112077 nuclear type mitochondrial complex I deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618237 LEXMATCH -MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch DOID:0112096 nuclear type mitochondrial complex I deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn16 LEXMATCH MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch DOID:0112096 nuclear type mitochondrial complex I deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618238 LEXMATCH -MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:closeMatch DOID:0112078 nuclear type mitochondrial complex I deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn17 LEXMATCH MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:closeMatch DOID:0112078 nuclear type mitochondrial complex I deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618239 LEXMATCH MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch DOID:0112070 nuclear type mitochondrial complex I deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 LEXMATCH -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch DOID:0112070 nuclear type mitochondrial complex I deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn18 LEXMATCH -MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch DOID:0112085 nuclear type mitochondrial complex I deficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn19 LEXMATCH MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch DOID:0112085 nuclear type mitochondrial complex I deficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 LEXMATCH MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch DOID:0112088 nuclear type mitochondrial complex I deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618242 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch DOID:0112088 nuclear type mitochondrial complex I deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn21 LEXMATCH -MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 skos:closeMatch DOID:0112069 nuclear type mitochondrial complex I deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn22 LEXMATCH MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 skos:closeMatch DOID:0112069 nuclear type mitochondrial complex I deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618243 LEXMATCH MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 skos:closeMatch DOID:0112087 nuclear type mitochondrial complex I deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618244 LEXMATCH -MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 skos:closeMatch DOID:0112087 nuclear type mitochondrial complex I deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn23 LEXMATCH MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch DOID:0112079 nuclear type mitochondrial complex I deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618245 LEXMATCH -MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch DOID:0112079 nuclear type mitochondrial complex I deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn24 LEXMATCH -MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch DOID:0112067 nuclear type mitochondrial complex I deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn25 LEXMATCH MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch DOID:0112067 nuclear type mitochondrial complex I deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618246 LEXMATCH -MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 skos:closeMatch DOID:0112086 nuclear type mitochondrial complex I deficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn26 LEXMATCH MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 skos:closeMatch DOID:0112086 nuclear type mitochondrial complex I deficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618247 LEXMATCH -MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 skos:closeMatch DOID:0112090 nuclear type mitochondrial complex I deficiency 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn27 LEXMATCH MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 skos:closeMatch DOID:0112090 nuclear type mitochondrial complex I deficiency 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618248 LEXMATCH MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 skos:closeMatch DOID:0112095 nuclear type mitochondrial complex I deficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618249 LEXMATCH -MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 skos:closeMatch DOID:0112095 nuclear type mitochondrial complex I deficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn28 LEXMATCH -MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch DOID:0112084 nuclear type mitochondrial complex I deficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn29 LEXMATCH MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch DOID:0112084 nuclear type mitochondrial complex I deficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618250 LEXMATCH -MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch DOID:0112071 nuclear type mitochondrial complex I deficiency 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn31 LEXMATCH MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch DOID:0112071 nuclear type mitochondrial complex I deficiency 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618251 LEXMATCH -MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch DOID:0112080 nuclear type mitochondrial complex I deficiency 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn32 LEXMATCH MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch DOID:0112080 nuclear type mitochondrial complex I deficiency 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618252 LEXMATCH MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch DOID:0112097 nuclear type mitochondrial complex I deficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618253 LEXMATCH -MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch DOID:0112097 nuclear type mitochondrial complex I deficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn33 LEXMATCH -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch DOID:0111854 primary ciliary dyskinesia 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild39 LEXMATCH MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch DOID:0111854 primary ciliary dyskinesia 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618254 LEXMATCH MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 LEXMATCH MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:closeMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618285 LEXMATCH MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch DOID:0081228 autosomal recessive intellectual developmental disorder 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618295 LEXMATCH MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 LEXMATCH MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch DOID:0111853 primary ciliary dyskinesia 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618300 LEXMATCH -MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch DOID:0111853 primary ciliary dyskinesia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild40 LEXMATCH MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch DOID:0081229 autosomal recessive intellectual developmental disorder 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618302 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba18 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 LEXMATCH MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 18 LEXMATCH +MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 LEXMATCH MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba19 LEXMATCH MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba20 LEXMATCH MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 20 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lis9 LEXMATCH +MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 LEXMATCH MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 9 with complex brainstem malformation LEXMATCH +MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 LEXMATCH MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy LEXMATCH MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 LEXMATCH -MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 LEXMATCH -MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf35 LEXMATCH MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618341 LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 LEXMATCH +MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 LEXMATCH MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 LEXMATCH +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 LEXMATCH MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 85 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp85 LEXMATCH -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations LEXMATCH +MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 LEXMATCH MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618346 LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css8 LEXMATCH +MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations LEXMATCH MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 LEXMATCH MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 LEXMATCH MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:closeMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618374 LEXMATCH MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch DOID:0081230 autosomal recessive intellectual developmental disorder 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618383 LEXMATCH MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes LEXMATCH -MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedkf LEXMATCH MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618392 LEXMATCH -MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618394 LEXMATCH MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 60 LEXMATCH -MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd60 LEXMATCH +MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618394 LEXMATCH MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 LEXMATCH MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch DOID:0081231 autosomal recessive intellectual developmental disorder 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch DOID:0112341 hereditary spastic paraplegia 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg80 LEXMATCH MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch DOID:0112341 hereditary spastic paraplegia 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618418 LEXMATCH MONDO:0032739 spermatogenic failure 36 skos:closeMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 LEXMATCH -MONDO:0032739 spermatogenic failure 36 skos:closeMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf36 LEXMATCH MONDO:0032739 spermatogenic failure 36 skos:closeMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618420 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf37 LEXMATCH MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf38 LEXMATCH +MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 LEXMATCH MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 38 LEXMATCH +MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 LEXMATCH MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 LEXMATCH -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch DOID:0111858 primary ciliary dyskinesia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild41 LEXMATCH MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch DOID:0111858 primary ciliary dyskinesia 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 LEXMATCH -MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd62 LEXMATCH -MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 LEXMATCH MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618459 LEXMATCH +MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 LEXMATCH MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency LEXMATCH MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 LEXMATCH MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 LEXMATCH MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch DOID:0080979 arthrogryposis multiplex congenita-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd63 LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618495 LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency LEXMATCH -MONDO:0032783 aortic valve disease 3 skos:closeMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618496 LEXMATCH MONDO:0032783 aortic valve disease 3 skos:closeMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 LEXMATCH +MONDO:0032783 aortic valve disease 3 skos:closeMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618496 LEXMATCH MONDO:0032786 Noonan syndrome 11 skos:closeMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ns11 LEXMATCH MONDO:0032786 Noonan syndrome 11 skos:closeMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 LEXMATCH MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch DOID:0081232 autosomal recessive intellectual developmental disorder 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618504 LEXMATCH MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css10 LEXMATCH MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 10 LEXMATCH MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch DOID:0081169 Leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 LEXMATCH MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 LEXMATCH MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd64 LEXMATCH MONDO:0032803 immunodeficiency 64 skos:closeMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 LEXMATCH MONDO:0032803 immunodeficiency 64 skos:closeMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 64 LEXMATCH MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch DOID:0111870 nonphotosensitive trichothiodystrophy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch DOID:0111870 nonphotosensitive trichothiodystrophy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ttd7 LEXMATCH MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 LEXMATCH MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 LEXMATCH MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 LEXMATCH MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chng7 LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 LEXMATCH MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618580 LEXMATCH +MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 LEXMATCH MONDO:0032826 nephrotic syndrome, type 21 skos:closeMatch DOID:0112267 nephrotic syndrome type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618594 LEXMATCH -MONDO:0032826 nephrotic syndrome, type 21 skos:closeMatch DOID:0112267 nephrotic syndrome type 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nphs21 LEXMATCH MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 LEXMATCH MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618613 LEXMATCH MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 86 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp86 LEXMATCH MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch DOID:0112288 spondyloepiphyseal dysplasia Nishimura type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch DOID:0112288 spondyloepiphyseal dysplasia Nishimura type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedn LEXMATCH MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618620 LEXMATCH MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal obesity-metabolic syndrome type 4 LEXMATCH MONDO:0032839 noonan syndrome 12 skos:closeMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ns12 LEXMATCH MONDO:0032839 noonan syndrome 12 skos:closeMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 LEXMATCH -MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome LEXMATCH MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618635 LEXMATCH +MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome LEXMATCH MONDO:0032845 spermatogenic failure 39 skos:closeMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf39 LEXMATCH MONDO:0032845 spermatogenic failure 39 skos:closeMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 39 LEXMATCH MONDO:0032846 osteogenesis imperfecta, type 20 skos:closeMatch DOID:0111849 osteogenesis imperfecta type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618644 LEXMATCH -MONDO:0032846 osteogenesis imperfecta, type 20 skos:closeMatch DOID:0111849 osteogenesis imperfecta type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi20 LEXMATCH MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618648 LEXMATCH -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd65 LEXMATCH MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections LEXMATCH MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:closeMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618663 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf40 LEXMATCH MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 LEXMATCH +MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 LEXMATCH MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch DOID:0080765 autosomal recessive intellectual developmental disorder 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618665 LEXMATCH MONDO:0032863 spermatogenic failure 41 skos:closeMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 LEXMATCH MONDO:0032863 spermatogenic failure 41 skos:closeMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf41 LEXMATCH -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch DOID:0111855 primary ciliary dyskinesia 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild42 LEXMATCH MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch DOID:0111855 primary ciliary dyskinesia 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 LEXMATCH MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp87 LEXMATCH MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 LEXMATCH MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch DOID:0111856 primary ciliary dyskinesia 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618699 LEXMATCH -MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch DOID:0111856 primary ciliary dyskinesia 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild43 LEXMATCH MONDO:0032879 megabladder, congenital skos:closeMatch DOID:0112014 congenital megabladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618719 LEXMATCH -MONDO:0032879 megabladder, congenital skos:closeMatch DOID:0112014 congenital megabladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgbl LEXMATCH MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618721 LEXMATCH MONDO:0032881 premature ovarian failure 16 skos:closeMatch DOID:0080873 primary ovarian insufficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 LEXMATCH MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch DOID:0080975 intracranial berry aneurysm 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 LEXMATCH -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pamddfs LEXMATCH MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618737 LEXMATCH MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618744 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf42 LEXMATCH MONDO:0032896 spermatogenic failure 42 skos:closeMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 LEXMATCH MONDO:0032896 spermatogenic failure 42 skos:closeMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 LEXMATCH MONDO:0032898 spermatogenic failure 43 skos:closeMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf43 LEXMATCH MONDO:0032898 spermatogenic failure 43 skos:closeMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 LEXMATCH MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scn8 LEXMATCH -MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618766 LEXMATCH MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome LEXMATCH +MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618766 LEXMATCH MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 LEXMATCH MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg81 LEXMATCH MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch DOID:0112343 hereditary spastic paraplegia 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618770 LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch DOID:0112343 hereditary spastic paraplegia 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg82 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch DOID:0112091 nuclear type mitochondrial complex I deficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn34 LEXMATCH MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch DOID:0112091 nuclear type mitochondrial complex I deficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 LEXMATCH MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch DOID:0112166 autosomal dominant nonsyndromic deafness 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 LEXMATCH MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css11 LEXMATCH MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 LEXMATCH MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch DOID:0111851 primary ciliary dyskinesia 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch DOID:0111851 primary ciliary dyskinesia 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild44 LEXMATCH MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch DOID:0112167 autosomal dominant nonsyndromic deafness 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 LEXMATCH MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome LEXMATCH MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618792 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch DOID:0111857 primary ciliary dyskinesia 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild45 LEXMATCH MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch DOID:0111857 primary ciliary dyskinesia 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 LEXMATCH -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome LEXMATCH MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618804 LEXMATCH +MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome LEXMATCH MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp88 LEXMATCH MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 LEXMATCH MONDO:0033304 nonsyndromic deafness, Y-linked skos:closeMatch DOID:0111757 Y-linked deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:400043 LEXMATCH -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 45 LEXMATCH -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd45 LEXMATCH MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618951 LEXMATCH +MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 45 LEXMATCH MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618952 LEXMATCH -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd46 LEXMATCH MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 46 LEXMATCH -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 LEXMATCH -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd47 LEXMATCH MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618958 LEXMATCH +MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 LEXMATCH MONDO:0033541 immunodeficiency 69 skos:closeMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618963 LEXMATCH MONDO:0033541 immunodeficiency 69 skos:closeMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 LEXMATCH -MONDO:0033541 immunodeficiency 69 skos:closeMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd69 LEXMATCH -MONDO:0033542 immunodeficiency 70 skos:closeMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd70 LEXMATCH MONDO:0033542 immunodeficiency 70 skos:closeMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 LEXMATCH MONDO:0033542 immunodeficiency 70 skos:closeMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618969 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 LEXMATCH MONDO:0033549 optic atrophy 12 skos:closeMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 LEXMATCH +MONDO:0033549 optic atrophy 12 skos:closeMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 LEXMATCH MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618982 LEXMATCH MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:closeMatch DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618986 LEXMATCH MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 LEXMATCH -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb15 LEXMATCH MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 LEXMATCH MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch DOID:0112139 nuclear type mitochondrial complex I deficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 LEXMATCH -MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch DOID:0112139 nuclear type mitochondrial complex I deficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mc1dn35 LEXMATCH MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp90 LEXMATCH MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 LEXMATCH MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 LEXMATCH -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd48 LEXMATCH MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619012 LEXMATCH MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 LEXMATCH -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd49 LEXMATCH MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619024 LEXMATCH -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619025 LEXMATCH MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 LEXMATCH -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coxpd50 LEXMATCH +MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619025 LEXMATCH MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch DOID:0112346 hereditary spastic paraplegia 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619027 LEXMATCH MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch DOID:0112138 primary coenzyme Q10 deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 LEXMATCH MONDO:0033620 myofibrillar myopathy 10 skos:closeMatch DOID:0112108 myofibrillar myopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619040 LEXMATCH @@ -1921,122 +1602,94 @@ MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch DOI MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 LEXMATCH MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 LEXMATCH MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch DOID:0081114 benign familial infantile seizures 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chdfidd LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617360 LEXMATCH MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 LEXMATCH +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617360 LEXMATCH MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 LEXMATCH +MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 LEXMATCH MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba16 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch DOID:0111880 Diamond-Blackfan anemia 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dba17 LEXMATCH MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch DOID:0111880 Diamond-Blackfan anemia 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 LEXMATCH MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch DOID:0081222 autosomal recessive intellectual developmental disorder 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617432 LEXMATCH MONDO:0044317 premature ovarian failure 13 skos:closeMatch DOID:0080870 primary ovarian insufficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617442 LEXMATCH -MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi18 LEXMATCH -MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617952 LEXMATCH MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, type xviii LEXMATCH +MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617952 LEXMATCH MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd52 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 52 LEXMATCH MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd55 LEXMATCH +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 52 LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 LEXMATCH MONDO:0044776 premature ovarian failure 10 skos:closeMatch DOID:0080867 primary ovarian insufficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612885 LEXMATCH MONDO:0044777 premature ovarian failure 14 skos:closeMatch DOID:0080871 primary ovarian insufficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618014 LEXMATCH MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx107 LEXMATCH MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 LEXMATCH -MONDO:0049223 osteogenesis imperfecta, type 19 skos:closeMatch DOID:0111847 osteogenesis imperfecta type 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi19 LEXMATCH MONDO:0049223 osteogenesis imperfecta, type 19 skos:closeMatch DOID:0111847 osteogenesis imperfecta type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301014 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia LEXMATCH MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch DOID:0080962 anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 LEXMATCH MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 LEXMATCH MONDO:0054601 pituitary adenoma 5, multiple types skos:closeMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617540 LEXMATCH -MONDO:0054601 pituitary adenoma 5, multiple types skos:closeMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita5 LEXMATCH MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 LEXMATCH MONDO:0054665 pituitary adenoma 3, multiple types skos:closeMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617686 LEXMATCH -MONDO:0054665 pituitary adenoma 3, multiple types skos:closeMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pita3 LEXMATCH MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch DOID:0112324 pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 LEXMATCH MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch DOID:0081156 common variable immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617765 LEXMATCH MONDO:0054696 immunodeficiency 53 skos:closeMatch DOID:0111992 immunodeficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617585 LEXMATCH -MONDO:0054696 immunodeficiency 53 skos:closeMatch DOID:0111992 immunodeficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd53 LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imd11b LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis LEXMATCH MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617638 LEXMATCH +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis LEXMATCH +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia LEXMATCH MONDO:0054728 spermatogenic failure 24 skos:closeMatch DOID:0111929 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617959 LEXMATCH -MONDO:0054728 spermatogenic failure 24 skos:closeMatch DOID:0111929 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf24 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:closeMatch DOID:0111920 spermatogenic failure 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf25 LEXMATCH MONDO:0054729 spermatogenic failure 25 skos:closeMatch DOID:0111920 spermatogenic failure 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617960 LEXMATCH MONDO:0054730 spermatogenic failure 26 skos:closeMatch DOID:0111924 spermatogenic failure 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617961 LEXMATCH -MONDO:0054730 spermatogenic failure 26 skos:closeMatch DOID:0111924 spermatogenic failure 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf26 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:closeMatch DOID:0111928 spermatogenic failure 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf27 LEXMATCH MONDO:0054731 spermatogenic failure 27 skos:closeMatch DOID:0111928 spermatogenic failure 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:closeMatch DOID:0111916 spermatogenic failure 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf28 LEXMATCH MONDO:0054732 spermatogenic failure 28 skos:closeMatch DOID:0111916 spermatogenic failure 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 LEXMATCH MONDO:0054733 spermatogenic failure 29 skos:closeMatch DOID:0111930 spermatogenic failure 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618091 LEXMATCH -MONDO:0054733 spermatogenic failure 29 skos:closeMatch DOID:0111930 spermatogenic failure 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spgf29 LEXMATCH MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 LEXMATCH MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 3 LEXMATCH MONDO:0054752 multiple synostoses syndrome 4 skos:closeMatch DOID:0081320 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617898 LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 LEXMATCH MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica LEXMATCH +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 LEXMATCH MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch DOID:0080732 Ehlers-Danlos syndrome classic-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 LEXMATCH MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym css7 LEXMATCH MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 LEXMATCH MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch DOID:0080669 posterior polymorphous corneal dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 LEXMATCH MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch DOID:0111852 primary ciliary dyskinesia 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 LEXMATCH -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch DOID:0111852 primary ciliary dyskinesia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cild38 LEXMATCH -MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch DOID:0112323 pontocerebellar hypoplasia type 1D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1d LEXMATCH MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch DOID:0112323 pontocerebellar hypoplasia type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 LEXMATCH -MONDO:0054849 inflammatory bowel disease 29 skos:closeMatch DOID:0112155 inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd29 LEXMATCH MONDO:0054849 inflammatory bowel disease 29 skos:closeMatch DOID:0112155 inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618077 LEXMATCH MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch DOID:0081224 autosomal recessive intellectual developmental disorder 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 LEXMATCH MONDO:0054862 premature ovarian failure 15 skos:closeMatch DOID:0080872 primary ovarian insufficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618096 LEXMATCH MONDO:0060455 X-linked congenital hemolytic anemia skos:closeMatch DOID:0111846 X-linked congenital hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301015 LEXMATCH MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch DOID:0080978 arthrogryposis multiplex congenita-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 LEXMATCH MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedim LEXMATCH MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617641 LEXMATCH -MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cakuthed LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:closeMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plteid LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:closeMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617718 LEXMATCH MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:closeMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617879 LEXMATCH -MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:closeMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcaeod LEXMATCH MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:closeMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617913 LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch DOID:0112193 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetams2 LEXMATCH MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch DOID:0112193 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nedamss LEXMATCH MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch DOID:0112192 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetams1 LEXMATCH MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch DOID:0112192 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 LEXMATCH MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 LEXMATCH MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch DOID:0112202 developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:308350 LEXMATCH MONDO:0100105 brain small vessel disease 3 skos:closeMatch DOID:0112315 brain small vessel disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618360 LEXMATCH MONDO:0100115 acute flaccid myelitis skos:closeMatch DOID:0080947 acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c000629404 LEXMATCH MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpabh4b LEXMATCH MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency LEXMATCH MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 LEXMATCH MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 LEXMATCH +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 LEXMATCH MONDO:0100218 arthrogryposis multiplex congenita 5 skos:closeMatch DOID:0080981 arthrogryposis multiplex congenita-5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618947 LEXMATCH MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 LEXMATCH MONDO:0100223 mitochondrial complex I deficiency, nuclear type skos:closeMatch DOID:0112065 nuclear type mitochondrial complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:252010 LEXMATCH MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch DOID:0112074 nuclear type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 LEXMATCH MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:closeMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:614080 LEXMATCH MONDO:0100250 46,XX sex reversal 1 skos:closeMatch DOID:0111761 46,XX sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 LEXMATCH +MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 LEXMATCH MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies LEXMATCH -MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssfsc LEXMATCH MONDO:0100338 urinary tract infection skos:closeMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014552 LEXMATCH MONDO:0100340 Friedreich ataxia 1 skos:closeMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565561 LEXMATCH MONDO:0100340 Friedreich ataxia 1 skos:closeMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 LEXMATCH MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch DOID:0080698 Teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 LEXMATCH MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 LEXMATCH MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pascual-castroviejo syndrome LEXMATCH +MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 LEXMATCH +MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:closeMatch DOID:0081121 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619733 LEXMATCH +MONDO:0851095 KINSSHIP syndrome skos:closeMatch DOID:0112383 KINSSHIP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619297 LEXMATCH MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch DOID:0080679 neuronal intestinal dysplasia type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index da1340bc..5e8da753 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -1,24 +1,23 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000009 inherited bleeding disorder, platelet-type skos:closeMatch ICD10CM:D69.1 Qualitative platelet defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy LEXMATCH MONDO:0000158 developmental dysplasia of the hip skos:closeMatch ICD10CM:Q65.89 Other specified congenital deformities of hip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital acetabular dysplasia LEXMATCH -MONDO:0000225 human monocytic ehrlichiosis skos:closeMatch ICD10CM:A77.41 Ehrlichiosis chafeensis [E. chafeensis] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehrlichiosis chafeensis LEXMATCH MONDO:0000225 human monocytic ehrlichiosis skos:closeMatch ICD10CM:A77.41 Ehrlichiosis chafeensis [E. chafeensis] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehrlichiosis chafeensis LEXMATCH +MONDO:0000225 human monocytic ehrlichiosis skos:closeMatch ICD10CM:A77.41 Ehrlichiosis chafeensis [E. chafeensis] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehrlichiosis chafeensis LEXMATCH MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch ICD10CM:Q86.0 Fetal alcohol syndrome (dysmorphic) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal alcohol syndrome LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0000476 generalized dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic familial dystonia LEXMATCH +MONDO:0000476 generalized dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0000481 cervical dystonia skos:closeMatch ICD10CM:G24.3 Spasmodic torticollis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spasmodic torticollis LEXMATCH -MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65 Paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraphilias LEXMATCH MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65.8 Other paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym paraphilias LEXMATCH +MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65 Paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraphilias LEXMATCH MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65.89 Other paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym paraphilias LEXMATCH MONDO:0000741 angular cheilitis skos:closeMatch ICD10CM:K13.0 Diseases of lips semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cheilosis LEXMATCH MONDO:0000809 purpura fulminans skos:closeMatch ICD10CM:D65 Disseminated intravascular coagulation [defibrination syndrome] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrinolytic purpura LEXMATCH MONDO:0000888 gastrointestinal mucositis skos:closeMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucositis LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch ICD10CM:I67.850 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cadasil LEXMATCH MONDO:0001065 supine hypotensive syndrome skos:closeMatch ICD10CM:O26.5 Maternal hypotension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maternal hypotension syndrome LEXMATCH MONDO:0001153 gender dysphoria skos:closeMatch ICD10CM:F64.0 Transsexualism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transsexualism LEXMATCH MONDO:0001195 spotted fever skos:closeMatch ICD10CM:A77.8 Other spotted fevers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spotted fevers LEXMATCH -MONDO:0001209 common wart skos:closeMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym viral warts LEXMATCH MONDO:0001209 common wart skos:closeMatch ICD10CM:B07 Viral warts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral warts LEXMATCH +MONDO:0001209 common wart skos:closeMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym viral warts LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical typhus LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical typhus (fever) LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidemic (louse-borne) typhus LEXMATCH @@ -35,8 +34,8 @@ MONDO:0001809 adhesions of uterus skos:closeMatch ICD10CM:N85.6 Intrauterine syn MONDO:0002046 alcohol abuse skos:closeMatch ICD10CM:F10.2 Alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence LEXMATCH MONDO:0002099 Histoplasma capsulatum infectious disease skos:closeMatch ICD10CM:B39.4 Histoplasmosis capsulati, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym american histoplasmosis LEXMATCH MONDO:0002245 blood platelet disease skos:closeMatch ICD10CM:D69.1 Qualitative platelet defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy LEXMATCH -MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.83 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis LEXMATCH MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym thrombocytosis LEXMATCH +MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.83 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis LEXMATCH MONDO:0002457 Treacher-Collins syndrome skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH MONDO:0002471 bursitis skos:closeMatch ICD10CM:M75.0 Adhesive capsulitis of shoulder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frozen shoulder LEXMATCH MONDO:0002572 aspiration pneumonitis skos:closeMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspiration pneumonia LEXMATCH @@ -51,28 +50,28 @@ MONDO:0003406 sleep-wake disorder skos:closeMatch ICD10CM:G47.8 Other sleep diso MONDO:0003962 Froelich syndrome skos:closeMatch ICD10CM:E23.6 Other disorders of pituitary gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adiposogenital dystrophy LEXMATCH MONDO:0003964 myositis ossificans skos:closeMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0004380 dendritic cell sarcoma skos:closeMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH -MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b6 deficiency LEXMATCH MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine deficiency LEXMATCH +MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b6 deficiency LEXMATCH MONDO:0004596 cor pulmonale skos:closeMatch ICD10CM:I27 Other pulmonary heart diseases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary heart disorders LEXMATCH MONDO:0004628 gastroduodenitis skos:closeMatch ICD10CM:K29 Gastritis and duodenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastritis and duodenitis LEXMATCH MONDO:0004631 tongue cancer skos:closeMatch ICD10CM:C02.4 Malignant neoplasm of lingual tonsil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant neoplasm of lingual tonsil LEXMATCH MONDO:0004684 plantar fibromatosis skos:closeMatch ICD10CM:M72.2 Plantar fascial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plantar fascial fibromatosis LEXMATCH MONDO:0004907 alopecia skos:closeMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym alopecia areata LEXMATCH -MONDO:0004917 internal hordeolum skos:closeMatch ICD10CM:H00.02 Hordeolum internum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hordeolum internum LEXMATCH MONDO:0004917 internal hordeolum skos:closeMatch ICD10CM:H00.02 Hordeolum internum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infection of meibomian gland LEXMATCH +MONDO:0004917 internal hordeolum skos:closeMatch ICD10CM:H00.02 Hordeolum internum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hordeolum internum LEXMATCH MONDO:0004926 dacryocystitis skos:closeMatch ICD10CM:H04.0 Dacryoadenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dacryoadenitis LEXMATCH MONDO:0005044 hypertensive disorder skos:closeMatch ICD10CM:I10 Essential (primary) hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension LEXMATCH -MONDO:0005098 stroke disorder skos:closeMatch ICD10CM:I63 Cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction LEXMATCH -MONDO:0005098 stroke disorder skos:closeMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH MONDO:0005098 stroke disorder skos:closeMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH +MONDO:0005098 stroke disorder skos:closeMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH +MONDO:0005098 stroke disorder skos:closeMatch ICD10CM:I63 Cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction LEXMATCH MONDO:0005240 kidney disorder skos:closeMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy LEXMATCH MONDO:0005258 autism spectrum disorder skos:closeMatch ICD10CM:F84.9 Pervasive developmental disorder, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical autism LEXMATCH MONDO:0005260 autism skos:closeMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autistic disorder LEXMATCH MONDO:0005318 canker sore skos:closeMatch ICD10CM:K12.0 Recurrent oral aphthae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphthous stomatitis LEXMATCH MONDO:0005339 androgenetic alopecia skos:closeMatch ICD10CM:L64.8 Other androgenic alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym androgenic alopecia LEXMATCH MONDO:0005339 androgenetic alopecia skos:closeMatch ICD10CM:L64 Androgenic alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label androgenic alopecia LEXMATCH -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.0 Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.0 Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH MONDO:0005364 Graves disease skos:closeMatch ICD10CM:E05.0 Thyrotoxicosis with diffuse goiter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves' disorder LEXMATCH MONDO:0005387 primary ovarian failure skos:closeMatch ICD10CM:E28.31 Premature menopause semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature menopause LEXMATCH MONDO:0005554 rheumatic disorder skos:closeMatch ICD10CM:M77 Other enthesopathies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym enthesopathies LEXMATCH @@ -93,9 +92,9 @@ MONDO:0005850 milker's nodule skos:closeMatch ICD10CM:B08.03 Pseudocowpox [milke MONDO:0005850 milker's nodule skos:closeMatch ICD10CM:B08.03 Pseudocowpox [milker's node] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocowpox LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch ICD10CM:O43.23 Placenta percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch ICD10CM:O43.22 Placenta increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta LEXMATCH +MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43.89 Other placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym placental disorders LEXMATCH MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43 Placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placental disorders LEXMATCH MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43.8 Other placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym placental disorders LEXMATCH -MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43.89 Other placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym placental disorders LEXMATCH MONDO:0005941 retroperitoneal cancer skos:closeMatch ICD10CM:C48.0 Malignant neoplasm of retroperitoneum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant neoplasm of retroperitoneum LEXMATCH MONDO:0005993 Trichomonas vaginitis urogenital infection skos:closeMatch ICD10CM:A59.09 Other urogenital trichomoniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym urogenital trichomoniasis LEXMATCH MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis LEXMATCH @@ -112,9 +111,8 @@ MONDO:0006879 optic papillitis skos:closeMatch ICD10CM:H35.81 Retinal edema sema MONDO:0006921 Actinomycetales infectious disease skos:closeMatch ICD10CM:A42 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis LEXMATCH MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome LEXMATCH MONDO:0007032 prune belly syndrome skos:closeMatch ICD10CM:Q79.4 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch ICD10CM:G45.9 Transient cerebral ischemic attack, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tia LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.31 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency LEXMATCH MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency LEXMATCH +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.31 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency LEXMATCH MONDO:0007082 alopecia areata 1 skos:closeMatch ICD10CM:L63.1 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis LEXMATCH MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch ICD10CM:D61.01 Constitutional (pure) red blood cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome LEXMATCH MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch ICD10CM:Q26.8 Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome LEXMATCH @@ -124,12 +122,11 @@ MONDO:0007299 Sotos syndrome 1 skos:closeMatch ICD10CM:Q87.3 Congenital malforma MONDO:0007336 isolated cleft palate skos:closeMatch ICD10CM:Q35 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate LEXMATCH MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de lange syndrome LEXMATCH MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch ICD10CM:A81.0 Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cjd LEXMATCH MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH MONDO:0007405 Crouzon syndrome skos:closeMatch ICD10CM:Q75.1 Craniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzons disorder LEXMATCH MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch ICD10CM:Q79.61 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch ICD10CM:Q79.62 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds LEXMATCH MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch ICD10CM:Q79.62 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome LEXMATCH +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch ICD10CM:Q79.62 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds LEXMATCH MONDO:0007544 eosinophilia, familial skos:closeMatch ICD10CM:D72.19 Other eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial eosinophilia LEXMATCH MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch ICD10CM:Q78.6 Multiple congenital exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis LEXMATCH MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch ICD10CM:H35.1 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity LEXMATCH @@ -164,8 +161,8 @@ MONDO:0008187 panic disorder 1 skos:closeMatch ICD10CM:F41.0 Panic disorder [epi MONDO:0008187 panic disorder 1 skos:closeMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder LEXMATCH MONDO:0008218 Hailey-Hailey disease skos:closeMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial pemphigus LEXMATCH MONDO:0008248 pigmented purpuric eruption skos:closeMatch ICD10CM:L81.7 Pigmented purpuric dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented purpuric dermatosis LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch ICD10CM:J93.1 Other spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spontaneous pneumothorax LEXMATCH MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch ICD10CM:J93.11 Primary spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary spontaneous pneumothorax LEXMATCH +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch ICD10CM:J93.1 Other spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spontaneous pneumothorax LEXMATCH MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch ICD10CM:Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb LEXMATCH MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch ICD10CM:E80.1 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda LEXMATCH MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch ICD10CM:K62.3 Rectal prolapse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rectal prolapse LEXMATCH @@ -190,8 +187,8 @@ MONDO:0008757 alopecia universalis congenita skos:closeMatch ICD10CM:L63.1 Alope MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder LEXMATCH MONDO:0008849 atrophoderma vermiculata skos:closeMatch ICD10CM:L66.4 Folliculitis ulerythematosa reticulata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folliculitis ulerythematosa reticulata LEXMATCH MONDO:0008855 MHC class II deficiency skos:closeMatch ICD10CM:D81.6 Major histocompatibility complex class I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch ICD10CM:H10.51 Ligneous conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ligneous conjunctivitis LEXMATCH MONDO:0009009 hypoplasminogenemia skos:closeMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasminogenemia LEXMATCH +MONDO:0009009 hypoplasminogenemia skos:closeMatch ICD10CM:H10.51 Ligneous conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ligneous conjunctivitis LEXMATCH MONDO:0009009 hypoplasminogenemia skos:closeMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym type 1 plasminogen deficiency LEXMATCH MONDO:0009046 Fraser syndrome skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos syndrome LEXMATCH MONDO:0009070 D-glyceric aciduria skos:closeMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-glycericacidemia LEXMATCH @@ -204,16 +201,16 @@ MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficie MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch ICD10CM:Q80.4 Harlequin fetus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harlequin fetus LEXMATCH MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch ICD10CM:Q61.9 Cystic kidney disease, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome LEXMATCH MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch ICD10CM:M04.1 Periodic fever syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.25 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy LEXMATCH MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis LEXMATCH +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.25 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy LEXMATCH MONDO:0009649 moyamoya disease 1 skos:closeMatch ICD10CM:I67.5 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder LEXMATCH MONDO:0009653 mucolipidosis type IV skos:closeMatch ICD10CM:E75.11 Mucolipidosis IV semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iv LEXMATCH MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis, type iva LEXMATCH MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis, type ivb LEXMATCH MONDO:0009665 biotinidase deficiency skos:closeMatch ICD10CM:E53.8 Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biotin deficiency LEXMATCH MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym multiple carboxylase deficiency LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis LEXMATCH MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis LEXMATCH +MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis LEXMATCH MONDO:0009723 Leigh syndrome skos:closeMatch ICD10CM:G31.82 Leigh's disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subacute necrotizing encephalopathy LEXMATCH MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch ICD10CM:E66.2 Morbid (severe) obesity with alveolar hypoventilation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pickwickian syndrome LEXMATCH MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch ICD10CM:E72.4 Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithinemia LEXMATCH @@ -222,11 +219,10 @@ MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 defic MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch ICD10CM:P29.3 Persistent fetal circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation LEXMATCH MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch ICD10CM:P29.38 Other persistent fetal circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym persistent fetal circulation LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch ICD10CM:G60.1 Refsum's disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile refsum disorder LEXMATCH -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch ICD10CM:K51 Ulcerative colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulcerative colitis LEXMATCH MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym ulcerative colitis LEXMATCH +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch ICD10CM:K51 Ulcerative colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulcerative colitis LEXMATCH MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch ICD10CM:P22.0 Respiratory distress syndrome of newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder LEXMATCH MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch ICD10CM:E31.0 Autoimmune polyglandular failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmidts syndrome LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadhd LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect LEXMATCH MONDO:0010088 mucosulfatidosis skos:closeMatch ICD10CM:E75.26 Sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sulfatase deficiency LEXMATCH MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch ICD10CM:D59.4 Other nonautoimmune hemolytic anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia LEXMATCH @@ -236,12 +232,11 @@ MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch ICD10CM:E71 MONDO:0010269 Coats disease skos:closeMatch ICD10CM:H35.07 Retinal telangiectasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal telangiectasis LEXMATCH MONDO:0010602 hemophilia A skos:closeMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical hemophilia LEXMATCH MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch ICD10CM:D82.3 Immunodeficiency following hereditary defective response to Epstein-Barr virus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative disorder LEXMATCH -MONDO:0010811 benign prostatic hyperplasia skos:closeMatch ICD10CM:N40 Benign prostatic hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bph LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.0 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia LEXMATCH MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym frontotemporal dementia LEXMATCH +MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.0 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia LEXMATCH MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch ICD10CM:L13.0 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duhrings disorder LEXMATCH -MONDO:0011057 cerebrovascular disorder skos:closeMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH MONDO:0011057 cerebrovascular disorder skos:closeMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH +MONDO:0011057 cerebrovascular disorder skos:closeMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch ICD10CM:D89.82 Autoimmune lymphoproliferative syndrome [ALPS] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome LEXMATCH MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch ICD10CM:D89.82 Autoimmune lymphoproliferative syndrome [ALPS] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome LEXMATCH MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch ICD10CM:G80.4 Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxic cerebral palsy LEXMATCH @@ -266,8 +261,8 @@ MONDO:0015167 amniotic band syndrome skos:closeMatch ICD10CM:Q79.8 Other congeni MONDO:0015306 Lemierre syndrome skos:closeMatch ICD10CM:J02 Acute pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute sore throat LEXMATCH MONDO:0015665 scleromyxedema skos:closeMatch ICD10CM:L98.5 Mucinosis of the skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen myxedematosus LEXMATCH MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bielschowsky-jansky disorder LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.1 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia LEXMATCH MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.19 Other eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym eosinophilia LEXMATCH +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.1 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia LEXMATCH MONDO:0015871 benign breast phyllodes tumor skos:closeMatch ICD10CM:D48.6 Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystosarcoma phyllodes LEXMATCH MONDO:0015898 adrenogenital syndrome skos:closeMatch ICD10CM:E25.0 Congenital adrenogenital disorders associated with enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia LEXMATCH MONDO:0015900 hypoaldosteronism disease skos:closeMatch ICD10CM:E27.40 Unspecified adrenocortical insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoaldosteronism LEXMATCH @@ -284,20 +279,20 @@ MONDO:0016595 inhalational anthrax skos:closeMatch ICD10CM:A22.1 Pulmonary anthr MONDO:0017194 Blount disease skos:closeMatch ICD10CM:M92.51 Juvenile osteochondrosis of proximal tibia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara LEXMATCH MONDO:0017282 alveolar echinococcosis skos:closeMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym echinococcosis LEXMATCH MONDO:0017287 IgG4-related disease skos:closeMatch ICD10CM:M35.5 Multifocal fibrosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multifocal fibrosclerosis LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch ICD10CM:Q79.63 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds LEXMATCH MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch ICD10CM:Q79.63 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome LEXMATCH +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch ICD10CM:Q79.63 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds LEXMATCH MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch ICD10CM:Q26.8 Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome LEXMATCH MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch ICD10CM:B33.4 Hantavirus (cardio)-pulmonary syndrome [HPS] [HCPS] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hantavirus LEXMATCH MONDO:0017987 syringomyelia skos:closeMatch ICD10CM:Q06.4 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia LEXMATCH MONDO:0018097 West syndrome skos:closeMatch ICD10CM:G40.82 Epileptic spasms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wests syndrome LEXMATCH MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch ICD10CM:L66.2 Folliculitis decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folliculitis decalvans LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.3 Paratyphoid fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.2 Paratyphoid fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.1 Paratyphoid fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH +MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.3 Paratyphoid fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abscess of thorax LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purulent pleurisy LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym empyema LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax LEXMATCH +MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym empyema LEXMATCH +MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purulent pleurisy LEXMATCH MONDO:0018746 mucous membrane pemphigoid skos:closeMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign mucous membrane pemphigoid LEXMATCH MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial cold urticaria LEXMATCH MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria LEXMATCH @@ -305,20 +300,20 @@ MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch ICD10CM:Q04.8 Oth MONDO:0018846 penile agenesis skos:closeMatch ICD10CM:Q55.62 Hypoplasia of penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis LEXMATCH MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch ICD10CM:L66.4 Folliculitis ulerythematosa reticulata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folliculitis ulerythematosa reticulata LEXMATCH MONDO:0018919 McCune-Albright syndrome skos:closeMatch ICD10CM:Q78.1 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens LEXMATCH MONDO:0018959 potassium-aggravated myotonia skos:closeMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia fluctuans LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym neurofibromatosis LEXMATCH +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens LEXMATCH MONDO:0018975 neurofibromatosis type 1 skos:closeMatch ICD10CM:Q85.01 Neurofibromatosis, type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch ICD10CM:L12.8 Other pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym pemphigoid LEXMATCH +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym neurofibromatosis LEXMATCH MONDO:0019082 bullous pemphigoid skos:closeMatch ICD10CM:L12 Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid LEXMATCH +MONDO:0019082 bullous pemphigoid skos:closeMatch ICD10CM:L12.8 Other pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym pemphigoid LEXMATCH MONDO:0019142 inherited porphyria skos:closeMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym porphyria LEXMATCH MONDO:0019167 immunoglobulin a vasculitis skos:closeMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular purpura LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch ICD10CM:E71.518 Other disorders of peroxisome biogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym disorders of peroxisome biogenesis LEXMATCH MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch ICD10CM:E71.51 Disorders of peroxisome biogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorders of peroxisome biogenesis LEXMATCH +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch ICD10CM:E71.518 Other disorders of peroxisome biogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym disorders of peroxisome biogenesis LEXMATCH MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kufs disorder LEXMATCH MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch ICD10CM:Q80.2 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scrub (mite-borne) typhus LEXMATCH MONDO:0019365 scrub typhus skos:closeMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label typhus fever due to rickettsia tsutsugamushi LEXMATCH +MONDO:0019365 scrub typhus skos:closeMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scrub (mite-borne) typhus LEXMATCH MONDO:0019369 complex regional pain syndrome skos:closeMatch ICD10CM:G90.5 Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy LEXMATCH MONDO:0019399 Isaac syndrome skos:closeMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromyotonia LEXMATCH MONDO:0019402 beta thalassemia skos:closeMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thalassemia major LEXMATCH @@ -334,8 +329,8 @@ MONDO:0020532 spirillary rat-bite fever skos:closeMatch ICD10CM:A25.0 Spirillosi MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label streptobacillosis LEXMATCH MONDO:0020680 acute bronchiolitis skos:closeMatch ICD10CM:J21 Acute bronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute bronchiolitis LEXMATCH MONDO:0020686 acute tonsillitis skos:closeMatch ICD10CM:J03.9 Acute tonsillitis, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infective tonsillitis LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida LEXMATCH MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida LEXMATCH +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida LEXMATCH MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:closeMatch ICD10CM:I49.49 Other premature depolarization semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles LEXMATCH MONDO:0020761 Bowen disease of the skin skos:closeMatch ICD10CM:D00-D09 In situ neoplasms (D00-D09) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowens disorder LEXMATCH MONDO:0020782 chronic gingivitis skos:closeMatch ICD10CM:K05.1 Chronic gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis LEXMATCH @@ -349,8 +344,8 @@ MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch ICD10CM MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch ICD10CM:D56.4 Hereditary persistence of fetal hemoglobin [HPFH] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary persistence of fetal hemoglobin LEXMATCH MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch ICD10CM:E70.310 X-linked ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked ocular albinism LEXMATCH MONDO:0021113 respiratory failure skos:closeMatch ICD10CM:J96.2 Acute and chronic respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute and chronic respiratory failure LEXMATCH -MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44 Other headache syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndromes LEXMATCH MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44.89 Other headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndrome LEXMATCH +MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44 Other headache syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndromes LEXMATCH MONDO:0021259 prostate neoplasm skos:closeMatch ICD10CM:N40 Benign prostatic hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular prostate LEXMATCH MONDO:0021340 intertrigo skos:closeMatch ICD10CM:L30.4 Erythema intertrigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema intertrigo LEXMATCH MONDO:0021377 hypertrophic lichen planus skos:closeMatch ICD10CM:L43.0 Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic lichen planus LEXMATCH @@ -364,8 +359,8 @@ MONDO:0021783 streptococcal sore throat skos:closeMatch ICD10CM:J02.0 Streptococ MONDO:0021783 streptococcal sore throat skos:closeMatch ICD10CM:J02.0 Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label streptococcal pharyngitis LEXMATCH MONDO:0021929 traumatic myositis ossificans skos:closeMatch ICD10CM:M61.0 Myositis ossificans traumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis ossificans traumatica LEXMATCH MONDO:0021953 tuberculous fibrosis of lung skos:closeMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH -MONDO:0022096 pyogenic granuloma skos:closeMatch ICD10CM:L98.0 Pyogenic granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic granuloma LEXMATCH MONDO:0022096 pyogenic granuloma skos:closeMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granuloma pyogenicum LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch ICD10CM:L98.0 Pyogenic granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic granuloma LEXMATCH MONDO:0022103 chronic prostatitis skos:closeMatch ICD10CM:N41.1 Chronic prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic prostatitis LEXMATCH MONDO:0022208 crystal arthropathy skos:closeMatch ICD10CM:M11 Other crystal arthropathies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym crystal arthropathies LEXMATCH MONDO:0022699 cerebral palsy spastic hemiplegic skos:closeMatch ICD10CM:G80.2 Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic hemiplegic cerebral palsy LEXMATCH @@ -379,8 +374,8 @@ MONDO:0023164 viral pericarditis skos:closeMatch ICD10CM:I30.1 Infective pericar MONDO:0023286 graphite pneumoconiosis skos:closeMatch ICD10CM:J63.3 Graphite fibrosis (of lung) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graphite fibrosis LEXMATCH MONDO:0023628 levator syndrome skos:closeMatch ICD10CM:K59.4 Anal spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proctalgia fugax LEXMATCH MONDO:0023642 Weber syndrome skos:closeMatch ICD10CM:G46.3 Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weber syndrome LEXMATCH -MONDO:0024249 pityriasis lichenoides skos:closeMatch ICD10CM:L41.1 Pityriasis lichenoides chronica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides chronica LEXMATCH MONDO:0024249 pityriasis lichenoides skos:closeMatch ICD10CM:L41.0 Pityriasis lichenoides et varioliformis acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides et varioliformis acuta LEXMATCH +MONDO:0024249 pityriasis lichenoides skos:closeMatch ICD10CM:L41.1 Pityriasis lichenoides chronica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides chronica LEXMATCH MONDO:0024250 acute lichenoid pityriasis skos:closeMatch ICD10CM:L41.0 Pityriasis lichenoides et varioliformis acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucha-habermann disorder LEXMATCH MONDO:0024298 vitamin deficiency disorder skos:closeMatch ICD10CM:E56 Other vitamin deficiencies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym vitamin deficiencies LEXMATCH MONDO:0024300 hypophosphatemic rickets skos:closeMatch ICD10CM:E83.31 Familial hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets LEXMATCH @@ -389,8 +384,8 @@ MONDO:0024306 acquired lactic acidosis skos:closeMatch ICD10CM:E87.2 Acidosis se MONDO:0024523 aortic valve disease 1 skos:closeMatch ICD10CM:Q23.1 Congenital insufficiency of aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve LEXMATCH MONDO:0024954 larva migrans, visceral skos:closeMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral larva migrans LEXMATCH MONDO:0027029 HHV-6 encephalitis skos:closeMatch ICD10CM:B10.01 Human herpesvirus 6 encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 6 encephalitis LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch ICD10CM:M08.8 Other juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym juvenile arthritis LEXMATCH MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch ICD10CM:M08 Juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile arthritis LEXMATCH +MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch ICD10CM:M08.8 Other juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym juvenile arthritis LEXMATCH MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch ICD10CM:E71.39 Other disorders of fatty-acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym disorders of fatty-acid metabolism LEXMATCH MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch ICD10CM:E71.3 Disorders of fatty-acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorders of fatty-acid metabolism LEXMATCH MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch ICD10CM:D55.0 Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favism LEXMATCH @@ -399,33 +394,32 @@ MONDO:0041903 gonococcal infection of joint skos:closeMatch ICD10CM:A54.42 Gonoc MONDO:0042233 disseminated candidiasis skos:closeMatch ICD10CM:B37.7 Candidal sepsis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic candidiasis LEXMATCH MONDO:0042488 Cestode infectious disease skos:closeMatch ICD10CM:B71.1 Dipylidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dipylidiasis LEXMATCH MONDO:0043004 Weil's disease skos:closeMatch ICD10CM:A27.0 Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weils disorder LEXMATCH -MONDO:0043224 multi-infarct dementia skos:closeMatch ICD10CM:I67.3 Progressive vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym binswangers disorder LEXMATCH MONDO:0043224 multi-infarct dementia skos:closeMatch ICD10CM:F01 Vascular dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriosclerotic dementia LEXMATCH +MONDO:0043224 multi-infarct dementia skos:closeMatch ICD10CM:I67.3 Progressive vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym binswangers disorder LEXMATCH MONDO:0043237 glossodynia skos:closeMatch ICD10CM:K14.6 Glossodynia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym painful tongue LEXMATCH MONDO:0043237 glossodynia skos:closeMatch ICD10CM:K14.6 Glossodynia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossopyrosis LEXMATCH MONDO:0043247 Mallory-Weiss syndrome skos:closeMatch ICD10CM:K22.6 Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastro-esophageal laceration-hemorrhage syndrome LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch ICD10CM:L10.3 Brazilian pemphigus [fogo selvagem] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brazilian pemphigus LEXMATCH MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch ICD10CM:L10.3 Brazilian pemphigus [fogo selvagem] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brazilian pemphigus LEXMATCH -MONDO:0043327 cerebrospinal fluid leak skos:closeMatch ICD10CM:G96.09 Other spinal cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spinal csf leak LEXMATCH +MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch ICD10CM:L10.3 Brazilian pemphigus [fogo selvagem] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brazilian pemphigus LEXMATCH MONDO:0043327 cerebrospinal fluid leak skos:closeMatch ICD10CM:G96.09 Other spinal cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spinal cerebrospinal fluid leak LEXMATCH MONDO:0043327 cerebrospinal fluid leak skos:closeMatch ICD10CM:G96.02 Spinal cerebrospinal fluid leak, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal cerebrospinal fluid leak, spontaneous LEXMATCH -MONDO:0043537 cluster headache syndrome skos:closeMatch ICD10CM:G44.01 Episodic cluster headache semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic cluster headache LEXMATCH +MONDO:0043327 cerebrospinal fluid leak skos:closeMatch ICD10CM:G96.09 Other spinal cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym spinal csf leak LEXMATCH MONDO:0043537 cluster headache syndrome skos:closeMatch ICD10CM:G44.02 Chronic cluster headache semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic cluster headache LEXMATCH +MONDO:0043537 cluster headache syndrome skos:closeMatch ICD10CM:G44.01 Episodic cluster headache semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic cluster headache LEXMATCH MONDO:0043653 herpes labialis skos:closeMatch ICD10CM:B00.1 Herpesviral vesicular dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex labialis LEXMATCH MONDO:0043683 Leriche syndrome skos:closeMatch ICD10CM:I74.09 Other arterial embolism and thrombosis of abdominal aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leriches syndrome LEXMATCH MONDO:0043765 presbycusis skos:closeMatch ICD10CM:H91.1 Presbycusis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbyacusia LEXMATCH -MONDO:0043789 serum sickness skos:closeMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein sickness LEXMATCH MONDO:0043789 serum sickness skos:closeMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intoxication by serum LEXMATCH +MONDO:0043789 serum sickness skos:closeMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein sickness LEXMATCH MONDO:0043836 tuberculosis, spinal skos:closeMatch ICD10CM:A18.01 Tuberculosis of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberculous spondylitis LEXMATCH MONDO:0044344 Schistosoma japonicum infectious disease skos:closeMatch ICD10CM:B65.2 Schistosomiasis due to Schistosoma japonicum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asiatic schistosomiasis LEXMATCH -MONDO:0044811 idiopathic torsion dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0044811 idiopathic torsion dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia deformans progressiva LEXMATCH +MONDO:0044811 idiopathic torsion dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0044816 familial idiopathic torsion dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic torsion dystonia LEXMATCH MONDO:0060690 phenytoin toxicity skos:closeMatch ICD10CM:Q86.1 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome LEXMATCH -MONDO:0100039 CDKL5 disorder skos:closeMatch ICD10CM:G40.42 Cyclin-Dependent Kinase-Like 5 Deficiency Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdkl5 LEXMATCH MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch ICD10CM:G40.83 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome LEXMATCH -MONDO:0100081 sleep disorder skos:closeMatch ICD10CM:G47.5 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia LEXMATCH MONDO:0100081 sleep disorder skos:closeMatch ICD10CM:G47.59 Other parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym parasomnia LEXMATCH +MONDO:0100081 sleep disorder skos:closeMatch ICD10CM:G47.5 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia LEXMATCH MONDO:0100339 Friedreich ataxia skos:closeMatch ICD10CM:G11.11 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes LEXMATCH MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch ICD10CM:G71.13 Myotonic chondrodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophic myotonia LEXMATCH MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune adrenalitis LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv index ca48fba3..f91f7c8e 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv @@ -113,7 +113,6 @@ MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia s MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 LEXMATCH MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 LEXMATCH MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C85195 Tracheobronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchomalacia LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C98847 Bronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchomalacia LEXMATCH MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NCIT:C179297 Idiopathic Basal Ganglia Calcification semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label idiopathic basal ganglia calcification LEXMATCH MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome LEXMATCH MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive LEXMATCH @@ -171,8 +170,8 @@ MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch N MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) LEXMATCH MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome LEXMATCH MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch NCIT:C176894 Fanconi Anemia, Complementation Group N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor LEXMATCH MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor LEXMATCH MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 LEXMATCH MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch NCIT:C176910 Fanconi Anemia, Complementation Group O semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o LEXMATCH MONDO:0013252 Warsaw breakage syndrome skos:closeMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome LEXMATCH @@ -226,8 +225,8 @@ MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia LEXMATCH MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34896 Paratyphoid Fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH +MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch NCIT:C45692 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax LEXMATCH MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma LEXMATCH MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia LEXMATCH @@ -251,7 +250,6 @@ MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aorti MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder LEXMATCH MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma LEXMATCH MONDO:0025419 furunculosis skos:closeMatch NCIT:C99087 Furuncle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label furuncle LEXMATCH -MONDO:0025487 murine acquired immunodeficiency syndrome skos:closeMatch NCIT:C21881 MAIDS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maids LEXMATCH MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 LEXMATCH MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay LEXMATCH MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv index 5be3b2c7..a4a1bb00 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -1,8 +1,5 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oors LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to LEXMATCH -MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 LEXMATCH -MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label psoriatic arthritis, susceptibility to LEXMATCH -MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to LEXMATCH +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index b413a1be..ed771312 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,20 +1,13 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 LEXMATCH MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apca LEXMATCH MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae LEXMATCH MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 LEXMATCH MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder LEXMATCH -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcd LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl LEXMATCH MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden LEXMATCH MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0013483 obesity, hyperphagia, and developmental delay skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obhd LEXMATCH MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 LEXMATCH MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia LEXMATCH MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sed and semd LEXMATCH @@ -23,4 +16,3 @@ MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 LEXMATCH MONDO:0023076 eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofuji disorder LEXMATCH MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 LEXMATCH -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finca LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 79a292d2..00f57403 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -32,13 +32,14 @@ MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMa MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:0080905 central nervous system neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system neuroblastoma LEXMATCH MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003192 rete ovarii neoplasm skos:exactMatch DOID:4895 rete ovarii benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0003308 pleural mesothelioma skos:exactMatch DOID:5157 benign pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of pleura LEXMATCH MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003607 neuritis of upper limb skos:exactMatch DOID:572 mononeuritis of upper limb and mononeuritis multiplex semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003917 heart lymphoma skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcl LEXMATCH MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004649 anaerobic pneumonia skos:exactMatch DOID:873 anaerobic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaerobic pneumonia LEXMATCH MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch DOID:9459 isthmus cancer semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell acute lymphoblastic leukemia LEXMATCH MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated chondrosarcoma LEXMATCH @@ -53,71 +54,67 @@ MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diff MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch DOID:0080777 lung sarcomatoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung sarcomatoid carcinoma LEXMATCH MONDO:0006372 pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma LEXMATCH MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinonasal undifferentiated carcinoma LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shml LEXMATCH MONDO:0006515 acute pancreatitis skos:exactMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis LEXMATCH -MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder LEXMATCH MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym overactive bladder LEXMATCH +MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder LEXMATCH MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006728 obsolete discitis skos:exactMatch DOID:10986 discitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aarskog syndrome LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pdals LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex LEXMATCH MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 LEXMATCH MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch DOID:0080606 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 1 LEXMATCH +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 LEXMATCH MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia LEXMATCH MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib LEXMATCH MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 LEXMATCH MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 LEXMATCH MONDO:0007171 atrial standstill 1 skos:exactMatch DOID:0080662 atrial standstill 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 1 LEXMATCH MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 1 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome LEXMATCH MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome LEXMATCH MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hardcastle syndrome LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome LEXMATCH +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome LEXMATCH MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 LEXMATCH MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome LEXMATCH +MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome LEXMATCH +MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome LEXMATCH MONDO:0007299 Sotos syndrome 1 skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 1 LEXMATCH MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocostal dysostosis type 5 LEXMATCH MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ai3 LEXMATCH MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 LEXMATCH MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pretibial dystrophic epidermolysis bullosa LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny LEXMATCH MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny LEXMATCH +MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny LEXMATCH MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperalphalipoproteinemia type 1 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency LEXMATCH +MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency LEXMATCH MONDO:0007878 congenital laryngomalacia skos:exactMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital laryngomalacia LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema LEXMATCH +MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema LEXMATCH MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 1 LEXMATCH MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch DOID:0112241 multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trismus-pseudocamptodactyly syndrome LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-beals syndrome LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dutch-kentucky syndrome LEXMATCH +MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-beals syndrome LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 7 LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trismus-pseudocamptodactyly syndrome LEXMATCH MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht syndrome LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 LEXMATCH -MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch DOID:0111792 congenital nystagmus 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys2 LEXMATCH MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1a LEXMATCH MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 1 LEXMATCH MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with punctate corneal dystrophy LEXMATCH @@ -140,9 +137,8 @@ MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch D MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 3 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops3 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 3 LEXMATCH MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome LEXMATCH MONDO:0008849 atrophoderma vermiculata skos:exactMatch DOID:0080756 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata LEXMATCH @@ -150,18 +146,20 @@ MONDO:0008856 immunodeficiency 27A skos:exactMatch DOID:0111955 immunodeficiency MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sabinas brittle hair syndrome LEXMATCH MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome LEXMATCH MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia LEXMATCH +MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia LEXMATCH MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia LEXMATCH +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, classic type LEXMATCH +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, debre type LEXMATCH MONDO:0009194 immunodeficiency 32B skos:exactMatch DOID:0111985 immunodeficiency 32B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 32b LEXMATCH MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch DOID:0080672 fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 1 LEXMATCH MONDO:0009263 GAPO syndrome skos:exactMatch DOID:0112249 GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c LEXMATCH +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder LEXMATCH +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c LEXMATCH +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder LEXMATCH MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal dysplasia-anemia syndrome LEXMATCH MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH @@ -176,40 +174,38 @@ MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOI MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 2 LEXMATCH MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic veno-occlusive disorder-immunodeficiency syndrome LEXMATCH MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functional methionine synthase deficiency type cble LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria LEXMATCH MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency LEXMATCH +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy LEXMATCH MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome LEXMATCH MONDO:0009448 iminoglycinuria skos:exactMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria LEXMATCH MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 1 LEXMATCH MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 LEXMATCH MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 3 LEXMATCH +MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome LEXMATCH MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amrf LEXMATCH MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epm4 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome LEXMATCH MONDO:0009720 Keipert syndrome skos:exactMatch DOID:0111842 Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome LEXMATCH MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch DOID:0080390 nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finnish congenital nephrosis LEXMATCH MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type LEXMATCH MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency LEXMATCH MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy LEXMATCH MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 2 LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b LEXMATCH MONDO:0010008 sarcosinemia skos:exactMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia LEXMATCH MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch DOID:0080612 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 7 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to zap70 deficiency LEXMATCH +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency LEXMATCH MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LEXMATCH MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch DOID:0112195 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloperipheral dysplasia LEXMATCH @@ -220,17 +216,17 @@ MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch DOID:0112186 thyroid MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 3 LEXMATCH MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 4 LEXMATCH MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 5 LEXMATCH +MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 1 LEXMATCH MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btp1 syndrome LEXMATCH MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome LEXMATCH MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constitutional mismatch repair deficiency syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 1 LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia/hypoplasia of limbs and pelvis LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of ulna and fibula LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit LEXMATCH MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym al awadi-raas-rothschild syndrome LEXMATCH +MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit LEXMATCH +MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency LEXMATCH MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria LEXMATCH MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria LEXMATCH -MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency LEXMATCH MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome type 1 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x LEXMATCH MONDO:0010201 Winchester syndrome skos:exactMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome LEXMATCH @@ -239,79 +235,60 @@ MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch DOID:0112158 De Sanc MONDO:0010221 CHIME syndrome skos:exactMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome LEXMATCH MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome LEXMATCH MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH -MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx23 LEXMATCH -MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx20 LEXMATCH -MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch DOID:0112027 non-syndromic X-linked intellectual disability 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx14 LEXMATCH MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked lissencephaly type 1 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation LEXMATCH MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation LEXMATCH +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation LEXMATCH MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch DOID:0112060 Raynaud-Claes syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx49 LEXMATCH -MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx50 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome LEXMATCH +MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome LEXMATCH MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome LEXMATCH MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amme complex LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amme syndrome LEXMATCH MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats-mr LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amme syndrome LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome LEXMATCH +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome LEXMATCH +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal osseous dysplasia-pigmentary defects syndrome LEXMATCH MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uruguay faciocardiomusculoskeletal syndrome LEXMATCH MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immune deficiency LEXMATCH MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia LEXMATCH MONDO:0010296 immunodeficiency 61 skos:exactMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 61 LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH -MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx53 LEXMATCH -MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx73 LEXMATCH -MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx42 LEXMATCH -MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx2 LEXMATCH -MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx81 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-thalassemia-myelodysplastic syndrome LEXMATCH MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hemoglobin h disorder LEXMATCH +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-thalassemia-myelodysplastic syndrome LEXMATCH MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hbh disorder LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atmds LEXMATCH -MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx77 LEXMATCH MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome LEXMATCH MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome LEXMATCH MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome LEXMATCH -MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch DOID:0112030 non-syndromic X-linked intellectual disability 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx84 LEXMATCH -MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch DOID:0112052 non-syndromic X-linked intellectual disability 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx82 LEXMATCH MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis LEXMATCH MONDO:0010367 SHOX-related short stature skos:exactMatch DOID:0112120 SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature LEXMATCH -MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch DOID:0111796 congenital nystagmus 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys5 LEXMATCH MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 LEXMATCH MONDO:0010386 immunodeficiency 33 skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 33 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency LEXMATCH -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scax5 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia LEXMATCH MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 LEXMATCH +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia LEXMATCH MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromosome xp11.22 duplication syndrome LEXMATCH MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome LEXMATCH MONDO:0010441 CK syndrome skos:exactMatch DOID:0111898 CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome LEXMATCH -MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch DOID:0112031 non-syndromic X-linked intellectual disability 89 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx89 LEXMATCH -MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch DOID:0112032 non-syndromic X-linked intellectual disability 92 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx92 LEXMATCH -MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch DOID:0112053 non-syndromic X-linked intellectual disability 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx88 LEXMATCH MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked dominant chondrodysplasia, chassaing-lacombe type LEXMATCH MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome LEXMATCH MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 2 LEXMATCH @@ -322,83 +299,68 @@ MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:ex MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 3 LEXMATCH MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome LEXMATCH MONDO:0010498 MEND syndrome skos:exactMatch DOID:0111865 MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome LEXMATCH -MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrxs99f LEXMATCH MONDO:0010504 immunodeficiency 47 skos:exactMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 47 LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx61 LEXMATCH MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome LEXMATCH -MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx103 LEXMATCH -MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx104 LEXMATCH -MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch DOID:0112036 non-syndromic X-linked intellectual disability 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx105 LEXMATCH -MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch DOID:0111863 X-linked congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbavdx LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd50 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency LEXMATCH +MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 LEXMATCH +MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency LEXMATCH +MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency LEXMATCH MONDO:0010515 Meester-Loeys syndrome skos:exactMatch DOID:0111861 Meester-Loeys syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome LEXMATCH MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis LEXMATCH -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cild36 LEXMATCH MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder LEXMATCH MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smax2 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy with arthrogryposis LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spinal muscular atrophy type 2 LEXMATCH MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinal muscular atrophy type 2 LEXMATCH +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spinal muscular atrophy type 2 LEXMATCH MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked distal arthrogryposis multiplex congenita LEXMATCH +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy with arthrogryposis LEXMATCH +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy LEXMATCH MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 LEXMATCH MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0081164 dilated cardiomyopathy 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy type 3b LEXMATCH MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia LEXMATCH MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dfnx2 LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome LEXMATCH +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss LEXMATCH +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xhed LEXMATCH MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch DOID:0111388 X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hypoparathyroidism LEXMATCH MONDO:0010621 CHILD syndrome skos:exactMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome LEXMATCH MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 LEXMATCH MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx LEXMATCH MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblx LEXMATCH +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx LEXMATCH MONDO:0010669 syndactyly type 8 skos:exactMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 LEXMATCH MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz dysplasia LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops1 LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops7 LEXMATCH +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mls syndrome LEXMATCH MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear skin defects with multiple congenital anomalies LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mls syndrome LEXMATCH MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch DOID:0080776 partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome LEXMATCH MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome LEXMATCH MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda with characteristic facies LEXMATCH MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch DOID:0111706 oblique facial clefting 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tessier number type 4 facial cleft LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viljoen-smart syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 8 LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mmep syndrome LEXMATCH +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association LEXMATCH +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome LEXMATCH MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops8 LEXMATCH MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 8 LEXMATCH +MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mmep syndrome LEXMATCH +MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 8 LEXMATCH +MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viljoen-smart syndrome LEXMATCH MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood apraxia of speech LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech LEXMATCH MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental verbal dyspraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia LEXMATCH MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia LEXMATCH +MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood apraxia of speech LEXMATCH MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia LEXMATCH MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability LEXMATCH MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome LEXMATCH @@ -412,8 +374,8 @@ MONDO:0011603 GNE myopathy skos:exactMatch DOID:0080718 GNE myopathy semapv:Lexi MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 2 LEXMATCH MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 15 with mandibulofacial dysostosis LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria LEXMATCH MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia LEXMATCH MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 6 LEXMATCH @@ -428,37 +390,34 @@ MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops6 LEXMATCH MONDO:0011959 sweet syndrome skos:exactMatch DOID:0080746 Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome LEXMATCH MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil immunodeficiency syndrome LEXMATCH MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neutrophil immunodeficiency syndrome LEXMATCH MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelogenous leukemia, bcr-abl1 positive LEXMATCH -MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch DOID:0111793 congenital nystagmus 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys3 LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH +MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis type 2 LEXMATCH MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch DOID:0080695 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 LEXMATCH +MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome LEXMATCH MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency LEXMATCH +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 LEXMATCH +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 LEXMATCH +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency LEXMATCH MONDO:0012270 Tukel syndrome skos:exactMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tukel syndrome LEXMATCH MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 7q11.23 microduplication syndrome LEXMATCH MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency LEXMATCH MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency LEXMATCH MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 2 LEXMATCH MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 3a LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpd3 LEXMATCH MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 LEXMATCH MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 LEXMATCH MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 25 LEXMATCH @@ -471,27 +430,23 @@ MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital n MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 LEXMATCH MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 2 LEXMATCH MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 4 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency LEXMATCH +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome LEXMATCH MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops10 LEXMATCH MONDO:0012682 immunodeficiency 35 skos:exactMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 35 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lis3 LEXMATCH MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome LEXMATCH MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ane syndrome LEXMATCH +MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome LEXMATCH +MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome LEXMATCH MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 LEXMATCH -MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thph9 LEXMATCH MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara LEXMATCH MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 LEXMATCH MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scn4 LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH @@ -500,21 +455,20 @@ MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch DOID:0111879 Diamond-Bla MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 LEXMATCH MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 LEXMATCH MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria LEXMATCH +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency LEXMATCH +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency LEXMATCH MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmoplantaris striata type 2 LEXMATCH MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly LEXMATCH MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 3 LEXMATCH MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 2 LEXMATCH MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 3 LEXMATCH MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency LEXMATCH MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital hrg deficiency LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mddgc2 LEXMATCH +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency LEXMATCH MONDO:0013209 non-alcoholic fatty liver disease skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver LEXMATCH MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 LEXMATCH MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 LEXMATCH @@ -527,69 +481,65 @@ MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch DOID:0080790 Treacher MONDO:0013427 immunodeficiency 31B skos:exactMatch DOID:0111944 immunodeficiency 31B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 31b LEXMATCH MONDO:0013500 immunodeficiency 51 skos:exactMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 51 LEXMATCH MONDO:0013527 lissencephaly 4 skos:exactMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 4 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy LEXMATCH MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement LEXMATCH +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy LEXMATCH MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency LEXMATCH MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 3 LEXMATCH MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31c LEXMATCH MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch DOID:0080729 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome type 2 LEXMATCH +MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac LEXMATCH +MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocytopenia and mycobacterial infection syndrome LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 21 LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dendritic cell, monocyte, b and nk lymphoid deficiency LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections LEXMATCH +MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 21 LEXMATCH MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monocytopenia with susceptibility to infections LEXMATCH MONDO:0013624 Rafiq syndrome skos:exactMatch DOID:0081097 Rafiq syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rafiq syndrome LEXMATCH MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 4 LEXMATCH MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 5 LEXMATCH MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch DOID:0080806 cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 4 LEXMATCH +MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder LEXMATCH MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder LEXMATCH MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gvhd LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 LEXMATCH MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombomodulin-related bleeding disorder LEXMATCH +MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 LEXMATCH +MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 LEXMATCH MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related bleeding disorder LEXMATCH MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related coagulopathy LEXMATCH +MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy LEXMATCH +MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombomodulin-related bleeding disorder LEXMATCH MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch DOID:0080673 fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 2 LEXMATCH MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 2 LEXMATCH MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH MONDO:0013885 Malan overgrowth syndrome skos:exactMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cnm4 LEXMATCH MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 LEXMATCH -MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch DOID:0111791 congenital nystagmus 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys7 LEXMATCH MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch DOID:0080920 bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn LEXMATCH +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy LEXMATCH MONDO:0013953 immunodeficiency 28 skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 28 LEXMATCH +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 29, mycobacteriosis LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12b deficiency LEXMATCH +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12b deficiency LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 29, mycobacteriosis LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency LEXMATCH MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 29 LEXMATCH +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31a LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency LEXMATCH MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial stat1 deficiency LEXMATCH +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial stat1 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency LEXMATCH +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31a LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency LEXMATCH MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 LEXMATCH MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 14b LEXMATCH MONDO:0014046 Cowden syndrome 4 skos:exactMatch DOID:0081000 Cowden syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 4 LEXMATCH @@ -619,14 +569,13 @@ MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exact MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency LEXMATCH +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch DOID:0080759 Fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 3 LEXMATCH +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3-gamma deficiency LEXMATCH MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive LEXMATCH MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 17, cd3 gamma deficient LEXMATCH MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 17 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3-gamma deficiency LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd17 LEXMATCH MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0060017 CD3epsilon deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0111971 immunodeficiency 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 18 LEXMATCH MONDO:0014280 immunodeficiency 19 skos:exactMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 19 LEXMATCH @@ -637,28 +586,27 @@ MONDO:0014313 autosomal recessive primary immunodeficiency with defective sponta MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosch-boonstra-schaaf optic atrophy syndrome LEXMATCH MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering LEXMATCH MONDO:0014329 atrial standstill 2 skos:exactMatch DOID:0080663 atrial standstill 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 2 LEXMATCH +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency LEXMATCH +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency LEXMATCH MONDO:0014346 white sponge nevus 2 skos:exactMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 2 LEXMATCH MONDO:0014353 immunodeficiency 23 skos:exactMatch DOID:0111953 immunodeficiency 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 23 LEXMATCH MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym colobomatous microphthalmia-rhizomelic dysplasia syndrome LEXMATCH MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency LEXMATCH +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency LEXMATCH +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 LEXMATCH MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 13 LEXMATCH +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd27b LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b LEXMATCH +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency LEXMATCH +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b LEXMATCH MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial ifngammar1 deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH MONDO:0014453 immunodeficiency 36 skos:exactMatch DOID:0111949 immunodeficiency 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 36 LEXMATCH MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency LEXMATCH MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency LEXMATCH @@ -666,15 +614,15 @@ MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMa MONDO:0014491 immunodeficiency 37 skos:exactMatch DOID:0111939 immunodeficiency 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 37 LEXMATCH MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete isg15 deficiency LEXMATCH MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 38 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome LEXMATCH +MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome LEXMATCH MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar-facial-dental syndrome LEXMATCH MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebellar-facial-dental syndrome LEXMATCH MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebellofaciodental syndrome LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay LEXMATCH MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay LEXMATCH +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay LEXMATCH MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome LEXMATCH +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome LEXMATCH MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 7 with cerebellar hypoplasia LEXMATCH MONDO:0014597 immunodeficiency 39 skos:exactMatch DOID:0111969 immunodeficiency 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 39 LEXMATCH MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma LEXMATCH @@ -684,33 +632,25 @@ MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch DOID:0080411 fami MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 LEXMATCH MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency LEXMATCH MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 3 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch DOID:0112281 spondyloepiphyseal dysplasia Stanescu type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sedstn LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd42 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency LEXMATCH MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch DOID:0111975 immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd44 LEXMATCH +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency LEXMATCH +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation LEXMATCH +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 LEXMATCH MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch DOID:0111975 immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 44 LEXMATCH MONDO:0014727 immunodeficiency 45 skos:exactMatch DOID:0111994 immunodeficiency 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 45 LEXMATCH MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation LEXMATCH -MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch DOID:0112243 congenital symmetric circumferential skin creases 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cscsc2 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 LEXMATCH MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd46 LEXMATCH MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency LEXMATCH +MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 LEXMATCH MONDO:0014802 Cowden syndrome 7 skos:exactMatch DOID:0081003 Cowden syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 7 LEXMATCH MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 5 LEXMATCH -MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch DOID:0111872 nonphotosensitive trichothiodystrophy 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ttd6 LEXMATCH MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency LEXMATCH -MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch DOID:0112329 pontocerebellar hypoplasia type 2F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch2f LEXMATCH MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch DOID:0081011 Bardet-Biedl syndrome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 22 LEXMATCH MONDO:0014951 Sotos syndrome 3 skos:exactMatch DOID:0112104 Sotos syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 3 LEXMATCH MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch DOID:0081008 intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gnb5-related intellectual disability-cardiac arrhythmia syndrome LEXMATCH MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch DOID:0081008 intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch DOID:0112348 hereditary spastic paraplegia 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg78 LEXMATCH +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z LEXMATCH MONDO:0014981 immunodeficiency 49 skos:exactMatch DOID:0111979 immunodeficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 49 LEXMATCH MONDO:0014992 lissencephaly 8 skos:exactMatch DOID:0112233 lissencephaly 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 8 LEXMATCH @@ -722,20 +662,17 @@ MONDO:0015148 lissencephaly type 3 skos:exactMatch DOID:0112232 lissencephaly 3 MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita LEXMATCH MONDO:0015204 microlissencephaly skos:exactMatch DOID:0112234 microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym da1 LEXMATCH +MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism LEXMATCH MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insensitivity to pain LEXMATCH MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch DOID:0080895 rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma LEXMATCH MONDO:0015408 diffuse lymphatic malformation skos:exactMatch DOID:0081031 generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly LEXMATCH MONDO:0015588 limbic encephalitis skos:exactMatch DOID:0080741 limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym veods LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome LEXMATCH MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type LEXMATCH +MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome LEXMATCH MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0112312 male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia LEXMATCH MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma LEXMATCH MONDO:0015790 central diabetes insipidus skos:exactMatch DOID:0081055 central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halp1 LEXMATCH MONDO:0016052 atypical autism skos:exactMatch DOID:0060042 atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism LEXMATCH MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch DOID:0080921 bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria LEXMATCH MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 LEXMATCH @@ -756,7 +693,6 @@ MONDO:0016724 papillary tumor of the pineal region skos:exactMatch DOID:0081251 MONDO:0016727 extraventricular neurocytoma skos:exactMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:exactMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor LEXMATCH MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rgnt LEXMATCH MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 LEXMATCH MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch DOID:0112295 spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia LEXMATCH MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome LEXMATCH @@ -771,54 +707,50 @@ MONDO:0017347 plasmablastic lymphoma skos:exactMatch DOID:0080779 plasmablastic MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system LEXMATCH MONDO:0017607 caudal regression sequence skos:exactMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence LEXMATCH MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency LEXMATCH MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder LEXMATCH +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency LEXMATCH +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency LEXMATCH MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch DOID:0080929 variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080780 acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with mutated cebpa LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor type 2 deficiency LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency LEXMATCH MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interferon gamma receptor type 2 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH +MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency LEXMATCH +MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor type 2 deficiency LEXMATCH MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH +MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial ifngammar1 deficiency LEXMATCH +MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica LEXMATCH MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch DOID:0080699 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis LEXMATCH MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrwt amyloidosis LEXMATCH +MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis LEXMATCH MONDO:0018053 trichothiodystrophy skos:exactMatch DOID:0111866 trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy LEXMATCH MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch DOID:0112374 muscular dystrophy-dystroglycanopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy-dystroglycanopathy LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apds LEXMATCH MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome LEXMATCH +MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation LEXMATCH MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) LEXMATCH +MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor LEXMATCH MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gcgr-related hyperglucagonemia LEXMATCH MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor LEXMATCH MONDO:0018589 AApoAIV amyloidosis skos:exactMatch DOID:0080927 apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis LEXMATCH MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta2-microglobulinic amyloidosis LEXMATCH -MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis LEXMATCH +MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis LEXMATCH MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis LEXMATCH -MONDO:0018689 plasma cell leukemia skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcl LEXMATCH +MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis LEXMATCH MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome LEXMATCH MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens LEXMATCH MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability LEXMATCH MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch DOID:0080751 keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans LEXMATCH MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch DOID:0081105 keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata LEXMATCH MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0018922 cold agglutinin disease skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas LEXMATCH MONDO:0018924 microphthalmia, Lenz type skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz microphthalmia LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mls LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome LEXMATCH +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome LEXMATCH +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome LEXMATCH MONDO:0018948 multiminicore myopathy skos:exactMatch DOID:0080991 multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder LEXMATCH MONDO:0018974 paraneoplastic pemphigus skos:exactMatch DOID:0080852 paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus LEXMATCH MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia LEXMATCH @@ -827,9 +759,9 @@ MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency sk MONDO:0019155 Leydig cell hypoplasia skos:exactMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia LEXMATCH MONDO:0019165 central precocious puberty skos:exactMatch DOID:0112308 central precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central precocious puberty LEXMATCH MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 LEXMATCH +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 3 LEXMATCH MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 3 LEXMATCH MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 3 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 3 LEXMATCH MONDO:0019324 pemphigus foliaceus skos:exactMatch DOID:0080850 pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus LEXMATCH MONDO:0019344 antisynthetase syndrome skos:exactMatch DOID:0080744 antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome LEXMATCH MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch DOID:6785 desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor LEXMATCH @@ -840,48 +772,48 @@ MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysi MONDO:0019458 acute basophilic leukemia skos:exactMatch DOID:0080795 acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia LEXMATCH MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ cd56+ hematodermic neoplasm/tumor LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic nk-cell lymphoma LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic natural killer leukemia/lymphoma LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ natural killer cell leukemia LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm LEXMATCH +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic natural killer leukemia/lymphoma LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm LEXMATCH +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic nk-cell lymphoma LEXMATCH +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm LEXMATCH +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm LEXMATCH MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia LEXMATCH MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch DOID:0080797 nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal type extranodal nk/t-cell lymphoma LEXMATCH MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch DOID:0081049 hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma LEXMATCH MONDO:0019479 histiocytic sarcoma skos:exactMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH +MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH +MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH +MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b LEXMATCH MONDO:0019624 acquired angioedema skos:exactMatch DOID:0080941 acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema LEXMATCH MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch DOID:0112284 spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh resistance LEXMATCH MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh receptor inactivation LEXMATCH MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone resistance LEXMATCH MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh resistance LEXMATCH MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance LEXMATCH MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial lh receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation LEXMATCH +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh resistance LEXMATCH +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation LEXMATCH MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh resistance LEXMATCH MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leydig cell hypoplasia due to partial lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation LEXMATCH +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial lh receptor inactivation LEXMATCH +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial luteinizing hormone resistance LEXMATCH MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone resistance LEXMATCH MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial luteinizing hormone resistance LEXMATCH MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh receptor inactivation LEXMATCH +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation LEXMATCH +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance LEXMATCH MONDO:0019976 dementia pugilistica skos:exactMatch DOID:0081291 chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy LEXMATCH MONDO:0020068 postinfectious encephalitis skos:exactMatch DOID:10993 postinfectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious encephalitis LEXMATCH MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy LEXMATCH @@ -889,9 +821,7 @@ MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch DOID:0 MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma LEXMATCH MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch DOID:0080924 bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria LEXMATCH MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:exactMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 93 LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:exactMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iecee3 LEXMATCH MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 1 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:exactMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tdh1 LEXMATCH MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:exactMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 LEXMATCH MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch DOID:0081078 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 LEXMATCH MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b LEXMATCH @@ -915,14 +845,14 @@ MONDO:0021553 transverse myelitis skos:exactMatch DOID:0080743 transverse myelit MONDO:0021637 low grade glioma skos:exactMatch DOID:0080829 low grade glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low grade glioma LEXMATCH MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021915 arakawa syndrome 2 skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH MONDO:0021915 arakawa syndrome 2 skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type LEXMATCH +MONDO:0021915 arakawa syndrome 2 skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH MONDO:0022519 autoimmune myocarditis skos:exactMatch DOID:0080767 autoimmune myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune myocarditis LEXMATCH MONDO:0022742 occupational asthma skos:exactMatch DOID:0080820 occupational asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occupational asthma LEXMATCH MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile astrocytoma LEXMATCH MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile astrocytoma LEXMATCH -MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma LEXMATCH MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile ganglioglioma LEXMATCH +MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma LEXMATCH MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch DOID:0081058 dipsogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dipsogenic diabetes insipidus LEXMATCH MONDO:0023227 gestational diabetes insipidus skos:exactMatch DOID:0081057 gestational diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational diabetes insipidus LEXMATCH MONDO:0023664 spermatogenic failure 54 skos:exactMatch DOID:0112335 spermatogenic failure 54 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 54 LEXMATCH @@ -936,17 +866,15 @@ MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exac MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch DOID:0080717 infantile liver failure syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 1 LEXMATCH MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy LEXMATCH -MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch DOID:0112274 X-linked spermatogenic failure 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spgfx3 LEXMATCH MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch DOID:0112370 Coffin-Siris syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 12 LEXMATCH MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mullegama-klein-martinez syndrome LEXMATCH MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paganini-miozzo syndrome LEXMATCH MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shukla-vernon syndrome LEXMATCH MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch DOID:0111838 Basilicata-Akhtar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basilicata-akhtar syndrome LEXMATCH MONDO:0026777 VEXAS syndrome skos:exactMatch DOID:0080828 VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome LEXMATCH -MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 skos:exactMatch DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc1dm1 LEXMATCH MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency LEXMATCH +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee67 LEXMATCH MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 67 LEXMATCH MONDO:0029147 spermatogenic failure 33 skos:exactMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 33 LEXMATCH MONDO:0029148 spermatogenic failure 34 skos:exactMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 34 LEXMATCH @@ -960,101 +888,75 @@ MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch DOID:0080963 anauxetic dyspl MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with leukodystrophy LEXMATCH MONDO:0030031 lissencephaly 10 skos:exactMatch DOID:0112229 lissencephaly 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 10 LEXMATCH MONDO:0030049 46,xx sex reversal 5 skos:exactMatch DOID:0080943 46,XX sex reversal 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 5 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee86 LEXMATCH MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 86 LEXMATCH MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch DOID:0080761 Fanconi renotubular syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 5 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee87 LEXMATCH MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 LEXMATCH MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of corpus callosum, cardiac, ocular, and genital syndrome LEXMATCH MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch DOID:0080792 Treacher Collins syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 4 LEXMATCH MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch DOID:0112146 retinitis pigmentosa 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 89 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee88 LEXMATCH MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 LEXMATCH MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia with corneal dystrophy LEXMATCH MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 2 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch DOID:0112325 pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch14 LEXMATCH -MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch DOID:0112326 pontocerebellar hypoplasia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch15 LEXMATCH -MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch DOID:0112330 pontocerebellar hypoplasia type 1E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch1e LEXMATCH -MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch DOID:0112331 pontocerebellar hypoplasia type 1F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch1f LEXMATCH MONDO:0030307 spermatogenic failure 55 skos:exactMatch DOID:0112337 spermatogenic failure 55 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 55 LEXMATCH MONDO:0030430 spermatogenic failure 56 skos:exactMatch DOID:0112336 spermatogenic failure 56 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 56 LEXMATCH -MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch DOID:0112333 pontocerebellar hypoplasia type 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch16 LEXMATCH MONDO:0030439 spermatogenic failure 57 skos:exactMatch DOID:0112338 spermatogenic failure 57 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 57 LEXMATCH MONDO:0030463 spermatogenic failure 58 skos:exactMatch DOID:0112352 spermatogenic failure 58 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 58 LEXMATCH -MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch DOID:0112347 hereditary spastic paraplegia 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg84 LEXMATCH MONDO:0030492 spermatogenic failure 59 skos:exactMatch DOID:0112357 spermatogenic failure 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 59 LEXMATCH MONDO:0030493 spermatogenic failure 60 skos:exactMatch DOID:0112355 spermatogenic failure 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 60 LEXMATCH MONDO:0030507 spermatogenic failure 61 skos:exactMatch DOID:0112350 spermatogenic failure 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 61 LEXMATCH MONDO:0030508 spermatogenic failure 62 skos:exactMatch DOID:0112351 spermatogenic failure 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 62 LEXMATCH -MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch DOID:0112345 hereditary spastic paraplegia 85 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg85 LEXMATCH MONDO:0030515 spermatogenic failure 63 skos:exactMatch DOID:0112356 spermatogenic failure 63 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 63 LEXMATCH MONDO:0030522 spermatogenic failure 64 skos:exactMatch DOID:0112353 spermatogenic failure 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 64 LEXMATCH MONDO:0030531 spermatogenic failure 65 skos:exactMatch DOID:0112354 spermatogenic failure 65 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 65 LEXMATCH MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch DOID:0081073 Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome LEXMATCH -MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch DOID:0112342 hereditary spastic paraplegia 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg86 LEXMATCH MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch DOID:0081074 Teebi hypertelorism syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 2 LEXMATCH MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 4 LEXMATCH MONDO:0030844 spermatogenic failure 47 skos:exactMatch DOID:0112175 spermatogenic failure 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 47 LEXMATCH MONDO:0030846 spermatogenic failure 48 skos:exactMatch DOID:0112176 spermatogenic failure 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 48 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch DOID:0112190 distal arthrogryposis type 1C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym da1c LEXMATCH MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch DOID:0112223 developmental and epileptic encephalopathy 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 89 LEXMATCH MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oi21 LEXMATCH MONDO:0030868 spermatogenic failure 49 skos:exactMatch DOID:0112271 spermatogenic failure 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 49 LEXMATCH -MONDO:0030869 spermatogenic failures 50 skos:exactMatch DOID:0112272 spermatogenic failure 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spgf50 LEXMATCH MONDO:0030894 AMED syndrome, digenic skos:exactMatch DOID:0080952 AMED syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome LEXMATCH -MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch DOID:0112268 nephrotic syndrome type 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphs22 LEXMATCH MONDO:0030926 spermatogenic failure 51 skos:exactMatch DOID:0112273 spermatogenic failure 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 51 LEXMATCH MONDO:0030938 spermatogenic failure 52 skos:exactMatch DOID:0112270 spermatogenic failure 52 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 52 LEXMATCH MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH -MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof18 LEXMATCH MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH -MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch DOID:0112266 nephrotic syndrome type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphs23 LEXMATCH MONDO:0030981 immunodeficiency 79 skos:exactMatch DOID:0112277 immunodeficiency 79 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 79 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 LEXMATCH +MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH MONDO:0030989 spermatogenic failure 53 skos:exactMatch DOID:0112279 spermatogenic failure 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 53 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome LEXMATCH MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis LEXMATCH +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome LEXMATCH MONDO:0031043 lymphatic malformation 12 skos:exactMatch DOID:0081030 central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly LEXMATCH MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mismatch repair cancer syndrome LEXMATCH MONDO:0031421 Olmsted syndrome skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome LEXMATCH MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies LEXMATCH MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 83 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee68 LEXMATCH MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 LEXMATCH MONDO:0032599 immunodeficiency 15a skos:exactMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 15a LEXMATCH MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 84 LEXMATCH MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch12 LEXMATCH -MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee69 LEXMATCH MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 69 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee70 LEXMATCH MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 70 LEXMATCH MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 18 LEXMATCH MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 19 LEXMATCH MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 20 LEXMATCH MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 9 with complex brainstem malformation LEXMATCH MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 71 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee71 LEXMATCH MONDO:0032686 spermatogenic failure 35 skos:exactMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 35 LEXMATCH MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 85 LEXMATCH MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly, growth deficiency, seizures, and brain malformations LEXMATCH MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 8 LEXMATCH -MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee72 LEXMATCH MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 72 LEXMATCH MONDO:0032723 immunodeficiency 60 skos:exactMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 60 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee74 LEXMATCH MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 74 LEXMATCH MONDO:0032739 spermatogenic failure 36 skos:exactMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 36 LEXMATCH MONDO:0032744 spermatogenic failure 37 skos:exactMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 37 LEXMATCH MONDO:0032748 spermatogenic failure 38 skos:exactMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 38 LEXMATCH MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 75 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee75 LEXMATCH MONDO:0032763 immunodeficiency 62 skos:exactMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 62 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee76 LEXMATCH MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0032783 aortic valve disease 3 skos:exactMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic valve disorder type 3 LEXMATCH @@ -1063,17 +965,12 @@ MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch DOID:0112371 Coffin-Siris MONDO:0032794 leber congenital amaurosis 19 skos:exactMatch DOID:0081169 Leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis type 19 LEXMATCH MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis et progressiva type 6 LEXMATCH MONDO:0032803 immunodeficiency 64 skos:exactMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 64 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee77 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee78 LEXMATCH MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 LEXMATCH MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee79 LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome LEXMATCH MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee80 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch13 LEXMATCH MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 86 LEXMATCH MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal obesity-metabolic syndrome type 4 LEXMATCH MONDO:0032839 noonan syndrome 12 skos:exactMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 LEXMATCH @@ -1081,20 +978,16 @@ MONDO:0032842 Siddiqi syndrome skos:exactMatch DOID:0081273 Siddiqi syndrome sem MONDO:0032845 spermatogenic failure 39 skos:exactMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 39 LEXMATCH MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections LEXMATCH MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 LEXMATCH -MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee81 LEXMATCH MONDO:0032859 spermatogenic failure 40 skos:exactMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 40 LEXMATCH MONDO:0032863 spermatogenic failure 41 skos:exactMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 41 LEXMATCH MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH -MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee82 LEXMATCH MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 LEXMATCH MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 LEXMATCH -MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee83 LEXMATCH MONDO:0032896 spermatogenic failure 42 skos:exactMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 42 LEXMATCH MONDO:0032898 spermatogenic failure 43 skos:exactMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 43 LEXMATCH MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 LEXMATCH MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 11 LEXMATCH -MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee84 LEXMATCH MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 LEXMATCH MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandestig-stefanova syndrome LEXMATCH MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 88 LEXMATCH @@ -1111,19 +1004,15 @@ MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch DOID:0112147 retinitis pig MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 48 LEXMATCH MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 49 LEXMATCH MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 50 LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch DOID:0112346 hereditary spastic paraplegia 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg83 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch DOID:0112138 primary coenzyme Q10 deficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coq10d9 LEXMATCH MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch DOID:0112108 myofibrillar myopathy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy type 10 LEXMATCH MONDO:0033622 spermatogenic failure 44 skos:exactMatch DOID:0112109 spermatogenic failure 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 44 LEXMATCH MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch DOID:0112137 combined oxidative phosphorylation deficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 51 LEXMATCH MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch DOID:0112154 inflammatory bowel disease 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 30 LEXMATCH -MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch DOID:0112153 hypomyelinating leukodystrophy 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hld20 LEXMATCH MONDO:0033669 Noonan syndrome 13 skos:exactMatch DOID:0112161 Noonan syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 LEXMATCH MONDO:0033671 spermatogenic failure 45 skos:exactMatch DOID:0112163 spermatogenic failure 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 45 LEXMATCH MONDO:0033673 spermatogenic failure 46 skos:exactMatch DOID:0112164 spermatogenic failure 46 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 46 LEXMATCH MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch DOID:0111952 immunodeficiency 57 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune dysregulation-inflammatory bowel disorder-arthritis-recurrent infections-lymphopenia syndrome LEXMATCH MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch DOID:0080892 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee73 LEXMATCH MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 LEXMATCH MONDO:0034127 IgA pemphigus skos:exactMatch DOID:0080851 IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus LEXMATCH MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch DOID:0080976 acute myeloid leukemia with BCR-ABL1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with bcr-abl1 LEXMATCH @@ -1135,8 +1024,8 @@ MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatc MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency LEXMATCH MONDO:0043275 TORCH syndrome skos:exactMatch DOID:0080835 TORCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torch syndrome LEXMATCH MONDO:0044210 thalassemia minor skos:exactMatch DOID:0080774 thalassemia minor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalassemia minor LEXMATCH -MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH +MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder LEXMATCH MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 21 LEXMATCH MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 16 LEXMATCH @@ -1144,8 +1033,8 @@ MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch DOID:0111880 Diamond-Bl MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature, hearing loss, retinitis pigmentosa, and distinctive facies LEXMATCH MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lat deficiency LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction LEXMATCH MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive complex spg due to kennedy pathway dysfunction LEXMATCH +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction LEXMATCH MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch DOID:0081089 acute myeloid leukemia with mutated NPM1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with mutated npm1 LEXMATCH MONDO:0045055 glycogen-rich carcinoma skos:exactMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen-rich carcinoma LEXMATCH MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch DOID:0080962 anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia type 2 LEXMATCH @@ -1155,7 +1044,6 @@ MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 p MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch DOID:0112324 pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch11 LEXMATCH MONDO:0054696 immunodeficiency 53 skos:exactMatch DOID:0111992 immunodeficiency 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 53 LEXMATCH MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis LEXMATCH MONDO:0054728 spermatogenic failure 24 skos:exactMatch DOID:0111929 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 24 LEXMATCH @@ -1173,8 +1061,8 @@ MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch DOID:0111846 MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with involuntary movements LEXMATCH MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia LEXMATCH +MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis with early-onset deafness LEXMATCH MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities LEXMATCH MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch DOID:0112193 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia syndrome type 2 LEXMATCH @@ -1190,20 +1078,17 @@ MONDO:0100160 alcoholic ketoacidosis skos:exactMatch DOID:0080949 alcoholic keto MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency LEXMATCH MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hypoalphalipoproteinemia LEXMATCH MONDO:0100222 A20 haploinsufficiency skos:exactMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym a20 haploinsufficiency LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch DOID:0112074 nuclear type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc1dn1 LEXMATCH -MONDO:0100233 long COVID-19 skos:exactMatch DOID:0080848 long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pasc LEXMATCH MONDO:0100233 long COVID-19 skos:exactMatch DOID:0080848 long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-acute sequelae of sars-cov-2 infection LEXMATCH MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH MONDO:0100250 46,XX sex reversal 1 skos:exactMatch DOID:0111761 46,XX sex reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques LEXMATCH +MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma LEXMATCH MONDO:0100338 urinary tract infection skos:exactMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection LEXMATCH MONDO:0100340 Friedreich ataxia 1 skos:exactMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia type 1 LEXMATCH +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v LEXMATCH MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH -MONDO:0100452 RPE65-related dominant retinopathy skos:exactMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp87 LEXMATCH MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency LEXMATCH MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency LEXMATCH MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency LEXMATCH @@ -1211,8 +1096,6 @@ MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch DOID:0081073 Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch DOID:0080698 Teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 1 LEXMATCH -MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym als13 LEXMATCH -MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 skos:exactMatch DOID:0070020 autosomal dominant dyskeratosis congenita 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dkca4 LEXMATCH MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia LEXMATCH MONDO:0850092 post-cardiac arrest syndrome skos:exactMatch DOID:0070306 post-cardiac arrest syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-cardiac arrest syndrome LEXMATCH MONDO:0850093 absence epilepsy skos:exactMatch DOID:0070309 absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence epilepsy LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index cc2029e3..7d25fa66 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -13,11 +13,11 @@ MONDO:0000241 Keshan disease skos:exactMatch ICD10CM:E59 Dietary selenium defici MONDO:0000265 aspiration pneumonia skos:exactMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspiration pneumonia LEXMATCH MONDO:0000265 aspiration pneumonia skos:exactMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspiration pneumonia LEXMATCH MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch ICD10CM:B60.2 Naegleriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary amebic meningoencephalitis LEXMATCH -MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis LEXMATCH MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis LEXMATCH +MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis LEXMATCH MONDO:0000295 acanthocephaliasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthocephaliasis LEXMATCH -MONDO:0000299 thelaziasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thelaziasis LEXMATCH MONDO:0000299 thelaziasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thelaziasis LEXMATCH +MONDO:0000299 thelaziasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thelaziasis LEXMATCH MONDO:0000327 Buruli ulcer disease skos:exactMatch ICD10CM:A31.1 Cutaneous mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buruli ulcer LEXMATCH MONDO:0000337 exanthema subitum skos:exactMatch ICD10CM:B08.2 Exanthema subitum [sixth disease] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthema subitum LEXMATCH MONDO:0000344 Ross river fever skos:exactMatch ICD10CM:B33.1 Ross River disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ross river fever LEXMATCH @@ -28,8 +28,8 @@ MONDO:0000397 ataxic cerebral palsy skos:exactMatch ICD10CM:G80.4 Ataxic cerebra MONDO:0000405 anal canal cancer skos:exactMatch ICD10CM:C21.1 Malignant neoplasm of anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of anal canal LEXMATCH MONDO:0000409 chorioamnionitis skos:exactMatch ICD10CM:O41.12 Chorioamnionitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chorioamnionitis LEXMATCH MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch ICD10CM:C84.4 Peripheral T-cell lymphoma, not classified semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoplasmacytic lymphoma LEXMATCH MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoplasmacytic lymphoma LEXMATCH +MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoplasmacytic lymphoma LEXMATCH MONDO:0000440 metabolic acidosis skos:exactMatch ICD10CM:E87.2 Acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metabolic acidosis LEXMATCH MONDO:0000466 first-degree atrioventricular block skos:exactMatch ICD10CM:I44.0 Atrioventricular block, first degree semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular block, first degree LEXMATCH MONDO:0000467 second-degree atrioventricular block skos:exactMatch ICD10CM:I44.1 Atrioventricular block, second degree semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular block, second degree LEXMATCH @@ -51,22 +51,22 @@ MONDO:0000754 anal fistula skos:exactMatch ICD10CM:K60.5 Anorectal fistula semap MONDO:0000809 purpura fulminans skos:exactMatch ICD10CM:D65 Disseminated intravascular coagulation [defibrination syndrome] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura fulminans LEXMATCH MONDO:0000819 anencephaly skos:exactMatch ICD10CM:Q00.0 Anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anencephaly LEXMATCH MONDO:0000827 salmonellosis skos:exactMatch ICD10CM:A02.0 Salmonella enteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salmonellosis LEXMATCH -MONDO:0000845 fibrous dysplasia skos:exactMatch ICD10CM:M85.0 Fibrous dysplasia (monostotic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia LEXMATCH MONDO:0000845 fibrous dysplasia skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia LEXMATCH +MONDO:0000845 fibrous dysplasia skos:exactMatch ICD10CM:M85.0 Fibrous dysplasia (monostotic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia LEXMATCH MONDO:0000859 spina bifida occulta skos:exactMatch ICD10CM:Q76.0 Spina bifida occulta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida occulta LEXMATCH MONDO:0000888 gastrointestinal mucositis skos:exactMatch ICD10CM:K92.81 Gastrointestinal mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gastrointestinal mucositis LEXMATCH MONDO:0000919 ampulla of vater cancer skos:exactMatch ICD10CM:C24.1 Malignant neoplasm of ampulla of Vater semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ampulla of vater LEXMATCH MONDO:0000920 duodenum cancer skos:exactMatch ICD10CM:C17.0 Malignant neoplasm of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of duodenum LEXMATCH -MONDO:0000945 venous insufficiency skos:exactMatch ICD10CM:I87.2 Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous insufficiency LEXMATCH MONDO:0000945 venous insufficiency skos:exactMatch ICD10CM:I87.2 Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym venous insufficiency LEXMATCH +MONDO:0000945 venous insufficiency skos:exactMatch ICD10CM:I87.2 Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous insufficiency LEXMATCH MONDO:0000946 psychologic vaginismus skos:exactMatch ICD10CM:F52.5 Vaginismus not due to a substance or known physiological condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psychogenic vaginismus LEXMATCH MONDO:0000950 asthenopia skos:exactMatch ICD10CM:H53.14 Visual discomfort semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asthenopia LEXMATCH MONDO:0000952 cancer of long bone of lower limb skos:exactMatch ICD10CM:C40.2 Malignant neoplasm of long bones of lower limb semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000955 ileum cancer skos:exactMatch ICD10CM:C17.2 Malignant neoplasm of ileum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ileum LEXMATCH MONDO:0000956 small intestine cancer skos:exactMatch ICD10CM:C17 Malignant neoplasm of small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of small intestine LEXMATCH MONDO:0000957 lacrimal passage granuloma skos:exactMatch ICD10CM:H04.81 Granuloma of lacrimal passages semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granuloma of lacrimal passages LEXMATCH -MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinta LEXMATCH MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pinta LEXMATCH +MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinta LEXMATCH MONDO:0000980 aortic atherosclerosis skos:exactMatch ICD10CM:I70.0 Atherosclerosis of aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atherosclerosis of aorta LEXMATCH MONDO:0000984 thalassemia skos:exactMatch ICD10CM:D57.40 Sickle-cell thalassemia without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell thalassemia without crisis LEXMATCH MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch ICD10CM:I21.4 Non-ST elevation (NSTEMI) myocardial infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute subendocardial myocardial infarction LEXMATCH @@ -92,9 +92,9 @@ MONDO:0001061 pylorus cancer skos:exactMatch ICD10CM:C16.4 Malignant neoplasm of MONDO:0001062 pyloric antrum cancer skos:exactMatch ICD10CM:C16.3 Malignant neoplasm of pyloric antrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pyloric antrum LEXMATCH MONDO:0001064 acute eustachian salpingitis skos:exactMatch ICD10CM:H68.01 Acute Eustachian salpingitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute eustachian salpingitis LEXMATCH MONDO:0001065 supine hypotensive syndrome skos:exactMatch ICD10CM:O26.5 Maternal hypotension syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supine hypotensive syndrome LEXMATCH -MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.2 Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws LEXMATCH -MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws LEXMATCH MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frambesia, initial or primary LEXMATCH +MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws LEXMATCH +MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.2 Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws LEXMATCH MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer LEXMATCH MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label initial lesions of yaws LEXMATCH MONDO:0001084 primary optic atrophy skos:exactMatch ICD10CM:H47.21 Primary optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary optic atrophy LEXMATCH @@ -103,11 +103,11 @@ MONDO:0001099 lactocele skos:exactMatch ICD10CM:N64.89 Other specified disorders MONDO:0001103 giardiasis skos:exactMatch ICD10CM:A07.1 Giardiasis [lambliasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giardiasis LEXMATCH MONDO:0001104 toxic diffuse goiter skos:exactMatch ICD10CM:E05.0 Thyrotoxicosis with diffuse goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxic diffuse goiter LEXMATCH MONDO:0001106 kidney failure skos:exactMatch ICD10CM:N28.9 Disorder of kidney and ureter, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal insufficiency LEXMATCH -MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.21 Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis LEXMATCH MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.22 Chronic petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic petrositis LEXMATCH +MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.21 Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis LEXMATCH MONDO:0001110 chronic pyelonephritis skos:exactMatch ICD10CM:N11 Chronic tubulo-interstitial nephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic pyelonephritis LEXMATCH -MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial polycythemia LEXMATCH MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia LEXMATCH +MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial polycythemia LEXMATCH MONDO:0001116 mesenteric lymphadenitis skos:exactMatch ICD10CM:I88.0 Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric lymphadenitis LEXMATCH MONDO:0001116 mesenteric lymphadenitis skos:exactMatch ICD10CM:I88.0 Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesenteric lymphadenitis LEXMATCH MONDO:0001117 methemoglobinemia skos:exactMatch ICD10CM:D74 Methemoglobinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobinemia LEXMATCH @@ -124,13 +124,13 @@ MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28 Gastrojejunal ulce MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28.1 Acute gastrojejunal ulcer with perforation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute gastrojejunal ulcer with perforation LEXMATCH MONDO:0001156 borderline personality disorder skos:exactMatch ICD10CM:F60.3 Borderline personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline personality disorder LEXMATCH MONDO:0001166 nephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephritis LEXMATCH -MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G81.1 Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia LEXMATCH MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G80.2 Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic hemiplegic cerebral palsy LEXMATCH -MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.0 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH +MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G81.1 Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia LEXMATCH MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.03 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH +MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.0 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder LEXMATCH -MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian abscess LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salpingo-oophoritis LEXMATCH +MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian abscess LEXMATCH MONDO:0001174 conjunctival vascular disorder skos:exactMatch ICD10CM:H11.41 Vascular abnormalities of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular abnormalities of conjunctiva LEXMATCH MONDO:0001175 immature cataract skos:exactMatch ICD10CM:H25.09 Other age-related incipient cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water clefts LEXMATCH MONDO:0001179 pinguecula skos:exactMatch ICD10CM:H11.15 Pinguecula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinguecula LEXMATCH @@ -161,8 +161,8 @@ MONDO:0001247 social phobia skos:exactMatch ICD10CM:F40.1 Social phobias semapv: MONDO:0001249 trachoma skos:exactMatch ICD10CM:A71 Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma LEXMATCH MONDO:0001249 trachoma skos:exactMatch ICD10CM:A71.0 Initial stage of trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trachoma dubium LEXMATCH MONDO:0001250 keratomalacia skos:exactMatch ICD10CM:H18.44 Keratomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratomalacia LEXMATCH -MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african histoplasmosis LEXMATCH MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african histoplasmosis LEXMATCH +MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african histoplasmosis LEXMATCH MONDO:0001268 gingival recession skos:exactMatch ICD10CM:K06.01 Gingival recession, localized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession, localized LEXMATCH MONDO:0001270 stone in bladder diverticulum skos:exactMatch ICD10CM:N21.0 Calculus in bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calculus in diverticulum of bladder LEXMATCH MONDO:0001271 lens subluxation skos:exactMatch ICD10CM:H27.11 Subluxation of lens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subluxation of lens LEXMATCH @@ -175,8 +175,8 @@ MONDO:0001307 corneal abscess skos:exactMatch ICD10CM:H16.31 Corneal abscess sem MONDO:0001317 phlyctenulosis skos:exactMatch ICD10CM:H16.25 Phlyctenular keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phlyctenular keratoconjunctivitis LEXMATCH MONDO:0001320 ring staphyloma skos:exactMatch ICD10CM:H15.85 Ring staphyloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring staphyloma LEXMATCH MONDO:0001322 pericardium cancer skos:exactMatch ICD10CM:C38.0 Malignant neoplasm of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of pericardium LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60 Malignant neoplasm of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of penis LEXMATCH MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60.2 Malignant neoplasm of body of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of penis LEXMATCH +MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60 Malignant neoplasm of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of penis LEXMATCH MONDO:0001329 accommodative spasm skos:exactMatch ICD10CM:H52.53 Spasm of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spasm of accommodation LEXMATCH MONDO:0001334 hypertrichosis of eyelid skos:exactMatch ICD10CM:H02.86 Hypertrichosis of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis of eyelid LEXMATCH MONDO:0001335 hypotrichosis of eyelid skos:exactMatch ICD10CM:H02.72 Madarosis of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypotrichosis of eyelid LEXMATCH @@ -186,8 +186,8 @@ MONDO:0001350 parametrium malignant neoplasm skos:exactMatch ICD10CM:C57.3 Malig MONDO:0001352 round ligament malignant neoplasm skos:exactMatch ICD10CM:C57.2 Malignant neoplasm of round ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of round ligament LEXMATCH MONDO:0001355 ocular siderosis skos:exactMatch ICD10CM:H44.32 Siderosis of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label siderosis of eye LEXMATCH MONDO:0001356 iron deficiency anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iron deficiency anemia LEXMATCH -MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochromic anemia LEXMATCH MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochromic anemia LEXMATCH +MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochromic anemia LEXMATCH MONDO:0001364 regular astigmatism skos:exactMatch ICD10CM:H52.22 Regular astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regular astigmatism LEXMATCH MONDO:0001370 pericardial effusion skos:exactMatch ICD10CM:I31.3 Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericardial effusion LEXMATCH MONDO:0001370 pericardial effusion skos:exactMatch ICD10CM:I31.3 Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pericardial effusion LEXMATCH @@ -205,8 +205,8 @@ MONDO:0001414 osteopoikilosis skos:exactMatch ICD10CM:Q78.8 Other specified oste MONDO:0001422 primary aldosteronism skos:exactMatch ICD10CM:E26.01 Conn's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conns syndrome LEXMATCH MONDO:0001429 transient arthropathy skos:exactMatch ICD10CM:M12.8 Other specific arthropathies, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient arthropathy LEXMATCH MONDO:0001430 deep corneal vascularisation skos:exactMatch ICD10CM:H16.44 Deep vascularization of cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep vascularization of cornea LEXMATCH -MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch ICD10CM:J84.10 Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postinflammatory pulmonary fibrosis LEXMATCH MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch ICD10CM:J84.10 Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym postinflammatory pulmonary fibrosis LEXMATCH +MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch ICD10CM:J84.10 Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postinflammatory pulmonary fibrosis LEXMATCH MONDO:0001439 episcleritis periodica fugax skos:exactMatch ICD10CM:H15.11 Episcleritis periodica fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episcleritis periodica fugax LEXMATCH MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch ICD10CM:H16.23 Neurotrophic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurotrophic keratoconjunctivitis LEXMATCH MONDO:0001454 Blessig's cysts skos:exactMatch ICD10CM:H35.42 Microcystoid degeneration of retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcystoid degeneration of retina LEXMATCH @@ -254,8 +254,8 @@ MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch ICD10CM:B30.0 Kerato MONDO:0001638 protein-deficiency anemia skos:exactMatch ICD10CM:D53.0 Protein deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001641 severe pre-eclampsia skos:exactMatch ICD10CM:O14.1 Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia LEXMATCH MONDO:0001642 hordeolum externum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hordeolum externum LEXMATCH -MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of foreskin LEXMATCH MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce LEXMATCH +MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of foreskin LEXMATCH MONDO:0001654 spermatic cord cancer skos:exactMatch ICD10CM:C63.1 Malignant neoplasm of spermatic cord semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spermatic cord LEXMATCH MONDO:0001657 brain cancer skos:exactMatch ICD10CM:C71 Malignant neoplasm of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain LEXMATCH MONDO:0001676 erythropoietic protoporphyria skos:exactMatch ICD10CM:E80.0 Hereditary erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythropoietic protoporphyria LEXMATCH @@ -299,8 +299,8 @@ MONDO:0001804 anterior scleritis skos:exactMatch ICD10CM:H15.01 Anterior sclerit MONDO:0001813 squamous blepharitis skos:exactMatch ICD10CM:H01.02 Squamous blepharitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous blepharitis LEXMATCH MONDO:0001816 scleroperikeratitis skos:exactMatch ICD10CM:H15.04 Scleritis with corneal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scleritis with corneal involvement LEXMATCH MONDO:0001817 acute closed-angle glaucoma skos:exactMatch ICD10CM:H40.21 Acute angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute angle-closure glaucoma LEXMATCH -MONDO:0001824 polyneuropathy skos:exactMatch ICD10CM:A69.22 Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polyneuropathy LEXMATCH MONDO:0001824 polyneuropathy skos:exactMatch ICD10CM:A69.22 Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyneuropathy LEXMATCH +MONDO:0001824 polyneuropathy skos:exactMatch ICD10CM:A69.22 Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polyneuropathy LEXMATCH MONDO:0001831 irregular astigmatism skos:exactMatch ICD10CM:H52.21 Irregular astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irregular astigmatism LEXMATCH MONDO:0001834 visual pathway disorder skos:exactMatch ICD10CM:H47.9 Unspecified disorder of visual pathways semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch ICD10CM:H10.53 Contact blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contact blepharoconjunctivitis LEXMATCH @@ -321,25 +321,25 @@ MONDO:0001914 scleromalacia perforans skos:exactMatch ICD10CM:H15.05 Scleromalac MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch ICD10CM:H04.21 Epiphora due to excess lacrimation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphora due to excess lacrimation LEXMATCH MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder LEXMATCH MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic atticoantral suppurative otitis media LEXMATCH -MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis LEXMATCH MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis LEXMATCH -MONDO:0001929 ascending cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ascending cholangitis LEXMATCH +MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis LEXMATCH MONDO:0001929 ascending cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ascending cholangitis LEXMATCH +MONDO:0001929 ascending cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ascending cholangitis LEXMATCH MONDO:0001935 neurogenic arthropathy skos:exactMatch ICD10CM:M14.6 Charcôt's joint semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathic arthropathy LEXMATCH MONDO:0001936 brawny scleritis skos:exactMatch ICD10CM:H15.02 Brawny scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brawny scleritis LEXMATCH MONDO:0001938 vulvar dystrophy skos:exactMatch ICD10CM:N90.4 Leukoplakia of vulva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of vulva LEXMATCH MONDO:0001941 blindness (disorder) skos:exactMatch ICD10CM:H54 Blindness and low vision semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch ICD10CM:G21.3 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism LEXMATCH -MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis LEXMATCH MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis LEXMATCH +MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis LEXMATCH MONDO:0001950 corneal ectasia skos:exactMatch ICD10CM:H18.71 Corneal ectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ectasia LEXMATCH MONDO:0001955 protozoal dysentery skos:exactMatch ICD10CM:A07.9 Protozoal intestinal disease, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protozoal dysentery LEXMATCH MONDO:0001965 sclerosing keratitis skos:exactMatch ICD10CM:H16.33 Sclerosing keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing keratitis LEXMATCH MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch ICD10CM:H40.22 Chronic angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic angle-closure glaucoma LEXMATCH MONDO:0001971 farmer's lung disease skos:exactMatch ICD10CM:J67.0 Farmer's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farmers lung LEXMATCH MONDO:0001979 dumping syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dumping syndrome LEXMATCH -MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.24 Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.248 Other Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH +MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.24 Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH MONDO:0001984 candidal paronychia skos:exactMatch ICD10CM:B37.2 Candidiasis of skin and nail semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym candidal paronychia LEXMATCH MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foster-kennedy syndrome LEXMATCH MONDO:0002003 papilledema skos:exactMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papilledema LEXMATCH @@ -353,10 +353,10 @@ MONDO:0002056 breast fibroadenoma skos:exactMatch ICD10CM:D24 Benign neoplasm of MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch ICD10CM:C50.2 Malignant neoplasm of upper-inner quadrant of breast semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch ICD10CM:C50.3 Malignant neoplasm of lower-inner quadrant of breast semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002070 ventricular septal defect skos:exactMatch ICD10CM:Q21.0 Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect LEXMATCH -MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome LEXMATCH MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome LEXMATCH -MONDO:0002088 partial retinal vein occlusion skos:exactMatch ICD10CM:H34.82 Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion LEXMATCH +MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome LEXMATCH MONDO:0002088 partial retinal vein occlusion skos:exactMatch ICD10CM:H34.82 Venous engorgement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial retinal vein occlusion LEXMATCH +MONDO:0002088 partial retinal vein occlusion skos:exactMatch ICD10CM:H34.82 Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion LEXMATCH MONDO:0002108 thyroid cancer skos:exactMatch ICD10CM:C73 Malignant neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thyroid gland LEXMATCH MONDO:0002109 pituitary cancer skos:exactMatch ICD10CM:C75.1 Malignant neoplasm of pituitary gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pituitary gland LEXMATCH MONDO:0002127 urethral stricture skos:exactMatch ICD10CM:N35 Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture LEXMATCH @@ -364,25 +364,25 @@ MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch ICD10CM:H01.13 Ecz MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch ICD10CM:H01.1 Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid LEXMATCH MONDO:0002152 intermittent squint skos:exactMatch ICD10CM:H50.3 Intermittent heterotropia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent heterotropia LEXMATCH MONDO:0002155 cholecystitis skos:exactMatch ICD10CM:K81 Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube LEXMATCH MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of fallopian tube LEXMATCH +MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube LEXMATCH MONDO:0002164 focal chorioretinitis skos:exactMatch ICD10CM:H30.0 Focal chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym focal chorioretinitis LEXMATCH MONDO:0002170 chronic eustachian salpingitis skos:exactMatch ICD10CM:H68.02 Chronic Eustachian salpingitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic eustachian salpingitis LEXMATCH MONDO:0002178 placenta cancer skos:exactMatch ICD10CM:C58 Malignant neoplasm of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of placenta LEXMATCH +MONDO:0002181 exostosis skos:exactMatch ICD10CM:M25.7 Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte LEXMATCH MONDO:0002181 exostosis skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exostosis LEXMATCH MONDO:0002181 exostosis skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exostosis LEXMATCH -MONDO:0002181 exostosis skos:exactMatch ICD10CM:M25.7 Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte LEXMATCH MONDO:0002185 hyperostosis skos:exactMatch ICD10CM:M89.3 Hypertrophy of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophy of bone LEXMATCH MONDO:0002212 pneumonic tularemia skos:exactMatch ICD10CM:A21.2 Pulmonary tularemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary tularemia LEXMATCH MONDO:0002238 ascending colon cancer skos:exactMatch ICD10CM:C18.2 Malignant neoplasm of ascending colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ascending colon LEXMATCH -MONDO:0002246 perichondritis of auricle skos:exactMatch ICD10CM:H61.0 Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perichondritis of auricle LEXMATCH MONDO:0002246 perichondritis of auricle skos:exactMatch ICD10CM:H61.0 Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perichondritis of pinna LEXMATCH +MONDO:0002246 perichondritis of auricle skos:exactMatch ICD10CM:H61.0 Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perichondritis of auricle LEXMATCH MONDO:0002268 dyspepsia skos:exactMatch ICD10CM:K30 Functional dyspepsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indigestion LEXMATCH MONDO:0002282 West Nile fever skos:exactMatch ICD10CM:A92.3 West Nile virus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym west nile fever LEXMATCH MONDO:0002290 clitoris cancer skos:exactMatch ICD10CM:C51.2 Malignant neoplasm of clitoris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of clitoris LEXMATCH MONDO:0002303 central retinal vein occlusion skos:exactMatch ICD10CM:H34.81 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal vein occlusion LEXMATCH -MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protein s deficiency LEXMATCH MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein s deficiency LEXMATCH +MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protein s deficiency LEXMATCH MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch ICD10CM:H10.52 Angular blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angular blepharoconjunctivitis LEXMATCH MONDO:0002310 anterior dislocation of lens skos:exactMatch ICD10CM:H27.12 Anterior dislocation of lens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior dislocation of lens LEXMATCH MONDO:0002317 central nervous system origin vertigo skos:exactMatch ICD10CM:H81.4 Vertigo of central origin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vertigo of central origin LEXMATCH @@ -394,24 +394,24 @@ MONDO:0002352 larynx cancer skos:exactMatch ICD10CM:C32 Malignant neoplasm of la MONDO:0002354 benign laryngeal neoplasm skos:exactMatch ICD10CM:D14.1 Benign neoplasm of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of larynx LEXMATCH MONDO:0002357 hepatic flexure cancer skos:exactMatch ICD10CM:C18.3 Malignant neoplasm of hepatic flexure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of hepatic flexure LEXMATCH MONDO:0002361 transverse colon cancer skos:exactMatch ICD10CM:C18.4 Malignant neoplasm of transverse colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of transverse colon LEXMATCH -MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dermoid cyst LEXMATCH MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermoid cyst LEXMATCH +MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dermoid cyst LEXMATCH MONDO:0002407 capillary hemangioma skos:exactMatch ICD10CM:Q82.5 Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strawberry nevus LEXMATCH MONDO:0002412 disorder of glycogen metabolism skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder LEXMATCH MONDO:0002420 tic disorder skos:exactMatch ICD10CM:F95 Tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tic disorder LEXMATCH MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch ICD10CM:J84.112 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic fibrosing alveolitis LEXMATCH MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch ICD10CM:J84.11 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic interstitial pneumonia LEXMATCH MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch ICD10CM:C72.4 Malignant neoplasm of acoustic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant neoplasm of acoustic nerve LEXMATCH -MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired polycythemia LEXMATCH MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired polycythemia LEXMATCH +MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired polycythemia LEXMATCH MONDO:0002440 erythropoietin polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrogenous polycythemia LEXMATCH MONDO:0002443 bruxism skos:exactMatch ICD10CM:G47.63 Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism LEXMATCH MONDO:0002443 bruxism skos:exactMatch ICD10CM:F45.8 Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding LEXMATCH MONDO:0002457 Treacher-Collins syndrome skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome LEXMATCH MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis LEXMATCH MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis LEXMATCH -MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis LEXMATCH MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis LEXMATCH +MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis LEXMATCH MONDO:0002474 primary hyperoxaluria skos:exactMatch ICD10CM:E72.53 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria LEXMATCH MONDO:0002492 acute kidney failure skos:exactMatch ICD10CM:N17.9 Acute kidney failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute kidney injury LEXMATCH MONDO:0002494 substance-related disorder skos:exactMatch ICD10CM:F10-F19 Mental and behavioral disorders due to psychoactive substance use (F10-F19) semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -425,8 +425,8 @@ MONDO:0002691 liver cancer skos:exactMatch ICD10CM:C22.9 Malignant neoplasm of l MONDO:0002768 true hermaphroditism skos:exactMatch ICD10CM:Q56.0 Hermaphroditism, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotestis LEXMATCH MONDO:0002811 main bronchus cancer skos:exactMatch ICD10CM:C34.0 Malignant neoplasm of main bronchus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of main bronchus LEXMATCH MONDO:0002817 adrenal gland cancer skos:exactMatch ICD10CM:C74 Malignant neoplasm of adrenal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of adrenal gland LEXMATCH -MONDO:0002846 granulomatous gastritis skos:exactMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous gastritis LEXMATCH MONDO:0002846 granulomatous gastritis skos:exactMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulomatous gastritis LEXMATCH +MONDO:0002846 granulomatous gastritis skos:exactMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous gastritis LEXMATCH MONDO:0002889 orbital cancer skos:exactMatch ICD10CM:C69.6 Malignant neoplasm of orbit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of orbit LEXMATCH MONDO:0002903 articulation disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phonological disorder LEXMATCH MONDO:0002912 brainstem cancer skos:exactMatch ICD10CM:C71.7 Malignant neoplasm of brain stem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain stem LEXMATCH @@ -485,17 +485,17 @@ MONDO:0004456 cocaine abuse skos:exactMatch ICD10CM:F14.1 Cocaine abuse semapv:L MONDO:0004471 bacterial arthritis skos:exactMatch ICD10CM:M00 Pyogenic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyogenic arthritis LEXMATCH MONDO:0004497 tertiary syphilis skos:exactMatch ICD10CM:A52 Late syphilis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label late syphilis LEXMATCH MONDO:0004514 chronic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rhinitis LEXMATCH -MONDO:0004522 peritonitis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retractile mesenteritis LEXMATCH MONDO:0004522 peritonitis skos:exactMatch ICD10CM:K65 Peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonitis LEXMATCH +MONDO:0004522 peritonitis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retractile mesenteritis LEXMATCH MONDO:0004549 cork-handlers' disease skos:exactMatch ICD10CM:J67.3 Suberosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label suberosis LEXMATCH MONDO:0004566 postgastrectomy syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postgastrectomy syndrome LEXMATCH MONDO:0004568 paralytic ileus skos:exactMatch ICD10CM:K56.0 Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus LEXMATCH +MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency LEXMATCH MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ariboflavinosis LEXMATCH MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riboflavin deficiency LEXMATCH -MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency LEXMATCH -MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis LEXMATCH MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I01.2 Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis LEXMATCH MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:M05.3 Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis LEXMATCH +MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis LEXMATCH MONDO:0004584 maple bark strippers' lung skos:exactMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH MONDO:0004585 polyhydramnios skos:exactMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios LEXMATCH MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH @@ -503,32 +503,32 @@ MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatc MONDO:0004600 monocytic leukemia skos:exactMatch ICD10CM:C93 Monocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytic leukemia LEXMATCH MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch ICD10CM:C81.4 Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma LEXMATCH MONDO:0004607 vallecula cancer skos:exactMatch ICD10CM:C10.0 Malignant neoplasm of vallecula semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.8 Malignant neoplasm of overlapping sites of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of junctional region of oropharynx LEXMATCH MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.3 Malignant neoplasm of posterior wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of oropharynx LEXMATCH +MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.8 Malignant neoplasm of overlapping sites of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of junctional region of oropharynx LEXMATCH MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.2 Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lateral wall of oropharynx LEXMATCH MONDO:0004614 chronic monocytic leukemia skos:exactMatch ICD10CM:C93.1 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic monocytic leukemia LEXMATCH MONDO:0004618 diplegia of upper limb skos:exactMatch ICD10CM:G83.0 Diplegia of upper limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diplegia of upper limbs LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma LEXMATCH MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma LEXMATCH +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma LEXMATCH MONDO:0004637 aryepiglottic fold cancer skos:exactMatch ICD10CM:C13.1 Malignant neoplasm of aryepiglottic fold, hypopharyngeal aspect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004643 myeloid leukemia skos:exactMatch ICD10CM:C92 Myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid leukemia LEXMATCH +MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer LEXMATCH MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym decubitus ulcer LEXMATCH MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pressure ulcer LEXMATCH -MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer LEXMATCH -MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01.5 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH +MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH MONDO:0004652 bacterial pneumonia skos:exactMatch ICD10CM:J15.6 Pneumonia due to other Gram-negative bacteria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to other gram-negative bacteria LEXMATCH MONDO:0004657 disseminated chorioretinitis skos:exactMatch ICD10CM:H30.1 Disseminated chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated chorioretinitis LEXMATCH MONDO:0004658 breast carcinoma in situ skos:exactMatch ICD10CM:D05 Carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of breast LEXMATCH MONDO:0004659 eye carcinoma in situ skos:exactMatch ICD10CM:D09.2 Carcinoma in situ of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of eye LEXMATCH MONDO:0004662 heterophyiasis skos:exactMatch ICD10CM:B66.8 Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heterophyiasis LEXMATCH -MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH MONDO:0004666 metagonimiasis skos:exactMatch ICD10CM:B66.8 Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metagonimiasis LEXMATCH MONDO:0004667 sublingual gland cancer skos:exactMatch ICD10CM:C08.1 Malignant neoplasm of sublingual gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of sublingual gland LEXMATCH -MONDO:0004671 penis carcinoma in situ skos:exactMatch ICD10CM:D00-D09 In situ neoplasms (D00-D09) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym queyrats erythroplasia LEXMATCH MONDO:0004671 penis carcinoma in situ skos:exactMatch ICD10CM:D07.4 Carcinoma in situ of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of penis LEXMATCH +MONDO:0004671 penis carcinoma in situ skos:exactMatch ICD10CM:D00-D09 In situ neoplasms (D00-D09) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym queyrats erythroplasia LEXMATCH MONDO:0004686 lattice corneal dystrophy skos:exactMatch ICD10CM:H18.54 Lattice corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lattice corneal dystrophy LEXMATCH MONDO:0004700 parotid gland cancer skos:exactMatch ICD10CM:C07 Malignant neoplasm of parotid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parotid gland LEXMATCH MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch ICD10CM:H01.12 Discoid lupus erythematosus of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus of eyelid LEXMATCH @@ -537,8 +537,8 @@ MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant neoplasm of submandibular gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of submaxillary gland LEXMATCH MONDO:0004746 myopathy of extraocular muscle skos:exactMatch ICD10CM:H05.82 Myopathy of extraocular muscles semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy of extraocular muscles LEXMATCH MONDO:0004747 cleft lip skos:exactMatch ICD10CM:Q36 Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip LEXMATCH -MONDO:0004758 scotoma skos:exactMatch ICD10CM:H53.42 Scotoma of blind spot area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enlarged blind spot LEXMATCH MONDO:0004758 scotoma skos:exactMatch ICD10CM:H53.42 Scotoma of blind spot area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scotoma of blind spot area LEXMATCH +MONDO:0004758 scotoma skos:exactMatch ICD10CM:H53.42 Scotoma of blind spot area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enlarged blind spot LEXMATCH MONDO:0004769 orbital plasma cell granuloma skos:exactMatch ICD10CM:H05.12 Orbital myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orbital myositis LEXMATCH MONDO:0004773 iridocyclitis skos:exactMatch ICD10CM:H20 Iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocyclitis LEXMATCH MONDO:0004775 lens-induced iridocyclitis skos:exactMatch ICD10CM:H20.2 Lens-induced iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lens-induced iridocyclitis LEXMATCH @@ -558,8 +558,8 @@ MONDO:0004841 kidney hypertrophy skos:exactMatch ICD10CM:N28.81 Hypertrophy of k MONDO:0004842 stomatitis skos:exactMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral mucositis LEXMATCH MONDO:0004844 oral mucosa leukoplakia skos:exactMatch ICD10CM:K13.21 Leukoplakia of oral mucosa, including tongue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukokeratosis of oral mucosa LEXMATCH MONDO:0004845 aphthous stomatitis skos:exactMatch ICD10CM:K12.0 Recurrent oral aphthae semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aphthous stomatitis LEXMATCH -MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature separation of placenta LEXMATCH MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature separation of placenta LEXMATCH +MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature separation of placenta LEXMATCH MONDO:0004847 senile cataract skos:exactMatch ICD10CM:H25 Age-related cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senile cataract LEXMATCH MONDO:0004848 ulcerative stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative stomatitis LEXMATCH MONDO:0004848 ulcerative stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative stomatitis LEXMATCH @@ -574,8 +574,8 @@ MONDO:0004896 esotropia skos:exactMatch ICD10CM:H50.0 Esotropia semapv:LexicalMa MONDO:0004904 toxic maculopathy skos:exactMatch ICD10CM:H35.38 Toxic maculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic maculopathy LEXMATCH MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch ICD10CM:I77.4 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome LEXMATCH MONDO:0004918 central corneal ulcer skos:exactMatch ICD10CM:H16.01 Central corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central corneal ulcer LEXMATCH -MONDO:0004922 developmental coordination disorder skos:exactMatch ICD10CM:F82 Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental coordination disorder LEXMATCH MONDO:0004922 developmental coordination disorder skos:exactMatch ICD10CM:F82 Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental dyspraxia LEXMATCH +MONDO:0004922 developmental coordination disorder skos:exactMatch ICD10CM:F82 Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental coordination disorder LEXMATCH MONDO:0004922 developmental coordination disorder skos:exactMatch ICD10CM:F82 Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clumsy child syndrome LEXMATCH MONDO:0004925 chronic dacryocystitis skos:exactMatch ICD10CM:H04.41 Chronic dacryocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic dacryocystitis LEXMATCH MONDO:0004929 constant exophthalmos skos:exactMatch ICD10CM:H05.24 Constant exophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constant exophthalmos LEXMATCH @@ -585,14 +585,14 @@ MONDO:0004952 Hodgkins lymphoma skos:exactMatch ICD10CM:C81 Hodgkin lymphoma sem MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch ICD10CM:C91.0 Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia LEXMATCH MONDO:0004969 acute quadriplegic myopathy skos:exactMatch ICD10CM:G72.81 Critical illness myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute quadriplegic myopathy LEXMATCH MONDO:0004975 Alzheimer disease skos:exactMatch ICD10CM:G30.8 Other Alzheimer's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder LEXMATCH -MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20.0 Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besniers prurigo LEXMATCH MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20.81 Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis LEXMATCH +MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20.0 Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besniers prurigo LEXMATCH MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20 Atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic dermatitis LEXMATCH MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch ICD10CM:J44 Other chronic obstructive pulmonary disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic obstructive pulmonary disorder LEXMATCH MONDO:0005009 congestive heart failure skos:exactMatch ICD10CM:I50.9 Heart failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congestive heart disorder LEXMATCH MONDO:0005011 Crohn disease skos:exactMatch ICD10CM:K50 Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crohns disorder LEXMATCH -MONDO:0005011 Crohn disease skos:exactMatch ICD10CM:K50.1 Crohn's disease of large intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous colitis LEXMATCH MONDO:0005011 Crohn disease skos:exactMatch ICD10CM:K50 Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohns disorder LEXMATCH +MONDO:0005011 Crohn disease skos:exactMatch ICD10CM:K50.1 Crohn's disease of large intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous colitis LEXMATCH MONDO:0005012 cutaneous melanoma skos:exactMatch ICD10CM:C43 Malignant melanoma of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant melanoma of skin LEXMATCH MONDO:0005029 essential thrombocythemia skos:exactMatch ICD10CM:D47.3 Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential thrombocytosis LEXMATCH MONDO:0005029 essential thrombocythemia skos:exactMatch ICD10CM:D47.3 Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary thrombocytosis LEXMATCH @@ -600,57 +600,56 @@ MONDO:0005041 glaucoma skos:exactMatch ICD10CM:H40 Glaucoma semapv:LexicalMatchi MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I10 Essential (primary) hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym high blood pressure LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.1 Kaposi's sarcoma of soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of soft tissue LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46 Kaposi's sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposis sarcoma LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.2 Kaposi's sarcoma of palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of palate LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.5 Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.2 Kaposi's sarcoma of palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of palate LEXMATCH MONDO:0005077 pertussis skos:exactMatch ICD10CM:A37 Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough LEXMATCH MONDO:0005078 phyllodes tumor skos:exactMatch ICD10CM:D48.6 Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes LEXMATCH MONDO:0005081 preeclampsia skos:exactMatch ICD10CM:O14 Pre-eclampsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pre-eclampsia LEXMATCH MONDO:0005085 pterygium skos:exactMatch ICD10CM:H11.0 Pterygium of eye semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005090 schizophrenia skos:exactMatch ICD10CM:F20 Schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizophrenia LEXMATCH -MONDO:0005100 systemic sclerosis skos:exactMatch ICD10CM:M34.0 Progressive systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive systemic sclerosis LEXMATCH MONDO:0005100 systemic sclerosis skos:exactMatch ICD10CM:M34 Systemic sclerosis [scleroderma] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis LEXMATCH +MONDO:0005100 systemic sclerosis skos:exactMatch ICD10CM:M34.0 Progressive systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive systemic sclerosis LEXMATCH MONDO:0005101 ulcerative colitis skos:exactMatch ICD10CM:K51 Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis LEXMATCH MONDO:0005119 anthrax infection skos:exactMatch ICD10CM:A22 Anthrax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anthrax LEXMATCH MONDO:0005136 malaria skos:exactMatch ICD10CM:B53 Other specified malaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-traumatic stress disorder LEXMATCH -MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder LEXMATCH MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis LEXMATCH +MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder LEXMATCH +MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-traumatic stress disorder LEXMATCH MONDO:0005147 type 1 diabetes mellitus skos:exactMatch ICD10CM:E10 Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus LEXMATCH MONDO:0005148 type 2 diabetes mellitus skos:exactMatch ICD10CM:E11 Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus LEXMATCH MONDO:0005150 age-related macular degeneration skos:exactMatch ICD10CM:H35.30 Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration LEXMATCH MONDO:0005150 age-related macular degeneration skos:exactMatch ICD10CM:H35.30 Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym age-related macular degeneration LEXMATCH +MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.5 Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured LEXMATCH MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.3 Abdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abdominal aortic aneurysm, ruptured LEXMATCH -MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.8 Aortic aneurysm of unspecified site, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm of unspecified site, ruptured LEXMATCH MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.1 Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured LEXMATCH -MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.5 Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured LEXMATCH +MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.8 Aortic aneurysm of unspecified site, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm of unspecified site, ruptured LEXMATCH MONDO:0005165 benign neoplasm skos:exactMatch ICD10CM:D10-D36 Benign neoplasms, except benign neuroendocrine tumors (D10-D36) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M19 Other and unspecified osteoarthritis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis agitans LEXMATCH MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkinsons disorder LEXMATCH +MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis agitans LEXMATCH MONDO:0005186 cocaine dependence skos:exactMatch ICD10CM:F14.2 Cocaine dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine dependence LEXMATCH -MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH +MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch ICD10CM:N42.31 Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin LEXMATCH MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch ICD10CM:N42.31 Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic intraepithelial neoplasia LEXMATCH +MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy LEXMATCH MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60 Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy LEXMATCH MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic disorder of breast LEXMATCH -MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy LEXMATCH MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m1 LEXMATCH -MONDO:0005227 abscess skos:exactMatch ICD10CM:N34.0 Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH MONDO:0005227 abscess skos:exactMatch ICD10CM:G06.1 Intraspinal abscess and granuloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH +MONDO:0005227 abscess skos:exactMatch ICD10CM:N34.0 Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH MONDO:0005242 empyema skos:exactMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym empyema LEXMATCH MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M27.2 Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteomyelitis LEXMATCH -MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M27.2 Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteomyelitis LEXMATCH MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M86 Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis LEXMATCH +MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M27.2 Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteomyelitis LEXMATCH MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch ICD10CM:M08.4 Pauciarticular juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005252 heart failure skos:exactMatch ICD10CM:I50 Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure LEXMATCH MONDO:0005253 high output heart failure skos:exactMatch ICD10CM:I50.83 High output heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high output heart failure LEXMATCH -MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84 Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders LEXMATCH MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder LEXMATCH +MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84 Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders LEXMATCH MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder LEXMATCH -MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome LEXMATCH MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile autism LEXMATCH -MONDO:0005264 transient ischemic attack skos:exactMatch ICD10CM:G45.9 Transient cerebral ischemic attack, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tia LEXMATCH +MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome LEXMATCH MONDO:0005277 migraine disorder skos:exactMatch ICD10CM:G43 Migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label migraine LEXMATCH MONDO:0005279 pulmonary embolism skos:exactMatch ICD10CM:I26 Pulmonary embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary embolism LEXMATCH MONDO:0005290 rhabdomyolysis skos:exactMatch ICD10CM:M62.82 Rhabdomyolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyolysis LEXMATCH @@ -666,16 +665,15 @@ MONDO:0005338 open-angle glaucoma skos:exactMatch ICD10CM:H40.13 Pigmentary glau MONDO:0005345 hypospadias skos:exactMatch ICD10CM:Q54 Hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias LEXMATCH MONDO:0005348 keloid skos:exactMatch ICD10CM:L91.0 Hypertrophic scar semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keloid LEXMATCH MONDO:0005349 otosclerosis skos:exactMatch ICD10CM:H80 Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis LEXMATCH -MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cjd LEXMATCH MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute spongiform encephalopathy LEXMATCH MONDO:0005362 erectile dysfunction skos:exactMatch ICD10CM:F52.21 Male erectile disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label male erectile disorder LEXMATCH MONDO:0005377 nephrotic syndrome skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome LEXMATCH MONDO:0005382 bone Paget disease skos:exactMatch ICD10CM:M88 Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteitis deformans LEXMATCH MONDO:0005382 bone Paget disease skos:exactMatch ICD10CM:M88 Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis deformans LEXMATCH MONDO:0005383 panic disorder skos:exactMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panic disorder LEXMATCH +MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis LEXMATCH MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary biliary cholangitis LEXMATCH MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nonsuppurative destructive cholangitis LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis LEXMATCH MONDO:0005402 lymphoid leukemia skos:exactMatch ICD10CM:C91 Lymphoid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid leukemia LEXMATCH MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch ICD10CM:G93.3 Postviral fatigue syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postviral fatigue syndrome LEXMATCH MONDO:0005406 gestational diabetes skos:exactMatch ICD10CM:O24.4 Gestational diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational diabetes mellitus LEXMATCH @@ -689,8 +687,8 @@ MONDO:0005466 hypersomnia skos:exactMatch ICD10CM:G47.1 Hypersomnia semapv:Lexic MONDO:0005468 hypotensive disorder skos:exactMatch ICD10CM:I95 Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension LEXMATCH MONDO:0005469 orthostatic hypotension skos:exactMatch ICD10CM:I95.1 Orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension LEXMATCH MONDO:0005475 migraine with aura skos:exactMatch ICD10CM:G43.1 Migraine with aura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label migraine with aura LEXMATCH -MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia LEXMATCH MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodontia LEXMATCH +MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia LEXMATCH MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever LEXMATCH MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever LEXMATCH MONDO:0005507 gingival cancer skos:exactMatch ICD10CM:C03 Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gum LEXMATCH @@ -700,8 +698,8 @@ MONDO:0005541 spondylolysis skos:exactMatch ICD10CM:M43.0 Spondylolysis semapv:L MONDO:0005550 infectious disease skos:exactMatch ICD10CM:B99.8 Other infectious disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious disorder LEXMATCH MONDO:0005555 cycloplegia skos:exactMatch ICD10CM:H52.52 Paresis of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paresis of accommodation LEXMATCH MONDO:0005566 neonatal abstinence syndrome skos:exactMatch ICD10CM:P96.1 Neonatal withdrawal symptoms from maternal use of drugs of addiction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal abstinence syndrome LEXMATCH -MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesterol embolism LEXMATCH MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atheroembolism LEXMATCH +MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesterol embolism LEXMATCH MONDO:0005582 binge eating disorder skos:exactMatch ICD10CM:F50.81 Binge eating disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label binge eating disorder LEXMATCH MONDO:0005618 anxiety disorder skos:exactMatch ICD10CM:F41.1 Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anxiety state LEXMATCH MONDO:0005619 typhoid fever skos:exactMatch ICD10CM:A01.0 Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever LEXMATCH @@ -709,21 +707,21 @@ MONDO:0005631 actinomycosis skos:exactMatch ICD10CM:A42 Actinomycosis semapv:Lex MONDO:0005644 amebiasis skos:exactMatch ICD10CM:A06 Amebiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amebiasis LEXMATCH MONDO:0005645 ancylostomiasis skos:exactMatch ICD10CM:B76.0 Ancylostomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ancylostomiasis LEXMATCH MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch ICD10CM:A96 Arenaviral hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arenaviral hemorrhagic fever LEXMATCH -MONDO:0005659 atrophic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ozena LEXMATCH MONDO:0005659 atrophic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophic rhinitis LEXMATCH +MONDO:0005659 atrophic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ozena LEXMATCH MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brill-zinsser disorder LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus LEXMATCH MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym recrudescent typhus LEXMATCH +MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus LEXMATCH MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.2 Cannabis dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cannabis dependence LEXMATCH MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.1 Cannabis abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cannabis abuse LEXMATCH -MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym varicella LEXMATCH MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label varicella LEXMATCH +MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym varicella LEXMATCH +MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis LEXMATCH MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute nasopharyngitis LEXMATCH MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis LEXMATCH -MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis LEXMATCH MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia LEXMATCH -MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym contagious pustular dermatitis LEXMATCH MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecthyma contagiosum LEXMATCH +MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym contagious pustular dermatitis LEXMATCH MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute obstructive laryngitis LEXMATCH MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute obstructive laryngitis LEXMATCH MONDO:0005723 Cryptococcal meningitis skos:exactMatch ICD10CM:B45.1 Cerebral cryptococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryptococcal meningitis LEXMATCH @@ -733,30 +731,30 @@ MONDO:0005757 eumycotic mycetoma skos:exactMatch ICD10CM:B47.0 Eumycetoma semapv MONDO:0005757 eumycotic mycetoma skos:exactMatch ICD10CM:B47.0 Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eumycetoma LEXMATCH MONDO:0005761 filarial elephantiasis skos:exactMatch ICD10CM:H02.85 Elephantiasis of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label elephantiasis of eyelid LEXMATCH MONDO:0005761 filarial elephantiasis skos:exactMatch ICD10CM:B74.0 Filariasis due to Wuchereria bancrofti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bancroftian elephantiasis LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH +MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch ICD10CM:A18.3 Tuberculosis of intestines, peritoneum and mesenteric glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of intestines, peritoneum and mesenteric glands LEXMATCH MONDO:0005779 hand, foot and mouth disease skos:exactMatch ICD10CM:B08.4 Enteroviral vesicular stomatitis with exanthem semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hand, foot and mouth disorder LEXMATCH MONDO:0005791 herpangina skos:exactMatch ICD10CM:B08.5 Enteroviral vesicular pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpangina LEXMATCH -MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stye LEXMATCH MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.03 Abscess of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym furuncle of eyelid LEXMATCH +MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stye LEXMATCH MONDO:0005806 hypopharynx cancer skos:exactMatch ICD10CM:C13.2 Malignant neoplasm of posterior wall of hypopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of hypopharynx LEXMATCH MONDO:0005808 inclusion conjunctivitis skos:exactMatch ICD10CM:A71 Trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trachoma LEXMATCH -MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10CM:B27 Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis LEXMATCH MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10CM:B27.0 Gammaherpesviral mononucleosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gammaherpesviral mononucleosis LEXMATCH -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH +MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10CM:B27 Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis LEXMATCH MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH +MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH MONDO:0005824 Legionnaires' disease skos:exactMatch ICD10CM:A48.1 Legionnaires' disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legionnaires' disorder LEXMATCH MONDO:0005826 lipid pneumonia skos:exactMatch ICD10CM:J69.1 Pneumonitis due to inhalation of oils and essences semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exogenous lipoid pneumonia LEXMATCH MONDO:0005829 louping ill skos:exactMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym louping ill LEXMATCH MONDO:0005829 louping ill skos:exactMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym louping ill LEXMATCH MONDO:0005831 lymph node tuberculosis skos:exactMatch ICD10CM:A18.2 Tuberculous peripheral lymphadenopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous adenitis LEXMATCH -MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder LEXMATCH MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale LEXMATCH +MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder LEXMATCH MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym climatic or tropical bubo LEXMATCH -MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of inferior maxilla LEXMATCH MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible LEXMATCH MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone LEXMATCH +MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of inferior maxilla LEXMATCH MONDO:0005845 meningoencephalitis skos:exactMatch ICD10CM:G04 Encephalitis, myelitis and encephalomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis LEXMATCH MONDO:0005845 meningoencephalitis skos:exactMatch ICD10CM:A69.22 Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis LEXMATCH MONDO:0005846 microsporidiosis skos:exactMatch ICD10CM:B60.8 Other specified protozoal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microsporidiosis LEXMATCH @@ -766,8 +764,8 @@ MONDO:0005864 muscle cancer skos:exactMatch ICD10CM:C49 Malignant neoplasm of ot MONDO:0005866 mycobacterium avium complex disease skos:exactMatch ICD10CM:A31.0 Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch ICD10CM:J15.7 Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae LEXMATCH MONDO:0005881 oligohydramnios skos:exactMatch ICD10CM:O41.0 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios LEXMATCH -MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis LEXMATCH MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis LEXMATCH +MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis LEXMATCH MONDO:0005890 osteitis fibrosa skos:exactMatch ICD10CM:E21.0 Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis fibrosa cystica generalisata LEXMATCH MONDO:0005898 paronychia skos:exactMatch ICD10CM:L03.0 Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paronychia LEXMATCH MONDO:0005898 paronychia skos:exactMatch ICD10CM:L03.0 Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paronychia LEXMATCH @@ -781,18 +779,18 @@ MONDO:0005929 postpartum depression skos:exactMatch ICD10CM:F53.0 Postpartum dep MONDO:0005941 retroperitoneal cancer skos:exactMatch ICD10CM:C48 Malignant neoplasm of retroperitoneum and peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of retroperitoneum and peritoneum LEXMATCH MONDO:0005942 Reye syndrome skos:exactMatch ICD10CM:G93.7 Reye's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reyes syndrome LEXMATCH MONDO:0005965 spinal stenosis skos:exactMatch ICD10CM:M48.0 Spinal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis LEXMATCH -MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78.7 Disseminated strongyloidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disseminated strongyloidiasis LEXMATCH MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78 Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis LEXMATCH +MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78.7 Disseminated strongyloidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disseminated strongyloidiasis LEXMATCH MONDO:0005976 syphilis skos:exactMatch ICD10CM:A52.3 Neurosyphilis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym syphilis LEXMATCH MONDO:0005979 thoracic outlet syndrome skos:exactMatch ICD10CM:G54.0 Brachial plexus disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thoracic outlet syndrome LEXMATCH -MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visceral larva migrans LEXMATCH MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxocariasis LEXMATCH +MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visceral larva migrans LEXMATCH MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J04.2 Acute laryngotracheitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tracheitis LEXMATCH MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J42 Unspecified chronic bronchitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic tracheitis LEXMATCH MONDO:0006001 urinary schistosomiasis skos:exactMatch ICD10CM:B65.0 Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schistosomiasis due to schistosoma haematobium LEXMATCH MONDO:0006001 urinary schistosomiasis skos:exactMatch ICD10CM:B65.0 Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosomiasis due to schistosoma haematobium LEXMATCH -MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina LEXMATCH MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prinzmetal angina LEXMATCH +MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina LEXMATCH MONDO:0006022 acidosis disorder skos:exactMatch ICD10CM:E87.2 Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis LEXMATCH MONDO:0006031 chronic rhinosinusitis skos:exactMatch ICD10CM:J32 Chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic sinusitis LEXMATCH MONDO:0006032 cystitis skos:exactMatch ICD10CM:N30 Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis LEXMATCH @@ -802,17 +800,17 @@ MONDO:0006044 nephrosclerosis skos:exactMatch ICD10CM:I12 Hypertensive chronic k MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch ICD10CM:N85.02 Endometrial intraepithelial neoplasia [EIN] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial hyperplasia with atypia LEXMATCH MONDO:0006105 benign conjunctival neoplasm skos:exactMatch ICD10CM:D31.0 Benign neoplasm of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of conjunctiva LEXMATCH MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch ICD10CM:D34 Benign neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of thyroid gland LEXMATCH -MONDO:0006237 granulocytic sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma LEXMATCH MONDO:0006237 granulocytic sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma LEXMATCH +MONDO:0006237 granulocytic sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma LEXMATCH MONDO:0006241 hepatic granuloma skos:exactMatch ICD10CM:D86.89 Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic granuloma LEXMATCH MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch ICD10CM:D05.0 Lobular carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lobular carcinoma in situ of breast LEXMATCH MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33 Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp LEXMATCH MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33.0 Polyp of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of nasal cavity LEXMATCH MONDO:0006354 parathyroid hyperplasia skos:exactMatch ICD10CM:E21.0 Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperplasia of parathyroid LEXMATCH -MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum LEXMATCH MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of peritoneum LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH +MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum LEXMATCH MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH MONDO:0006500 hemangioma skos:exactMatch ICD10CM:D18.0 Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemangioma LEXMATCH MONDO:0006515 acute pancreatitis skos:exactMatch ICD10CM:K85 Acute pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pancreatitis LEXMATCH MONDO:0006519 rectal cancer skos:exactMatch ICD10CM:C20 Malignant neoplasm of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of rectum LEXMATCH @@ -829,14 +827,14 @@ MONDO:0006574 lipomatosis skos:exactMatch ICD10CM:E88.2 Lipomatosis, not elsewhe MONDO:0006581 miliaria rubra skos:exactMatch ICD10CM:L74.0 Miliaria rubra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria rubra LEXMATCH MONDO:0006585 neurodermatitis skos:exactMatch ICD10CM:L28.0 Lichen simplex chronicus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lichen simplex chronicus LEXMATCH MONDO:0006586 neurotic excoriation skos:exactMatch ICD10CM:L98.1 Factitial dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic excoriation LEXMATCH -MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21 Seborrheic dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrheic dermatitis LEXMATCH -MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH -MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label seborrhea capitis LEXMATCH +MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.1 Seborrheic infantile dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrheic infantile dermatitis LEXMATCH +MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label seborrhea capitis LEXMATCH +MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH MONDO:0006613 stromal corneal pigmentation skos:exactMatch ICD10CM:H18.06 Stromal corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stromal corneal pigmentations LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subcorneal pustular dermatitis LEXMATCH MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sneddon-wilkinson disorder LEXMATCH +MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subcorneal pustular dermatitis LEXMATCH MONDO:0006624 overactive bladder skos:exactMatch ICD10CM:N32.81 Overactive bladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overactive bladder LEXMATCH MONDO:0006637 acute kidney tubular necrosis skos:exactMatch ICD10CM:N17.0 Acute kidney failure with tubular necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute tubular necrosis LEXMATCH MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch ICD10CM:H47.01 Ischemic optic neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ischemic optic neuropathy LEXMATCH @@ -846,8 +844,8 @@ MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic menin MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aseptic meningitis LEXMATCH MONDO:0006664 atrial septal defect skos:exactMatch ICD10CM:Q21.1 Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect LEXMATCH MONDO:0006666 atrophy of thyroid skos:exactMatch ICD10CM:E03.4 Atrophy of thyroid (acquired) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophy of thyroid LEXMATCH -MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis LEXMATCH MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis LEXMATCH +MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis LEXMATCH MONDO:0006670 bacterial meningitis skos:exactMatch ICD10CM:G00 Bacterial meningitis, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial meningitis LEXMATCH MONDO:0006676 beriberi skos:exactMatch ICD10CM:E51.1 Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi LEXMATCH MONDO:0006676 beriberi skos:exactMatch ICD10CM:E51 Thiamine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thiamine deficiency LEXMATCH @@ -856,8 +854,8 @@ MONDO:0006688 byssinosis skos:exactMatch ICD10CM:J66.1 Flax-dressers' disease se MONDO:0006699 choledocholithiasis skos:exactMatch ICD10CM:K80.5 Calculus of bile duct without cholangitis or cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choledocholithiasis LEXMATCH MONDO:0006700 choroid cancer skos:exactMatch ICD10CM:C69.3 Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of choroid LEXMATCH MONDO:0006713 corneal neovascularization skos:exactMatch ICD10CM:H16.4 Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization LEXMATCH -MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis LEXMATCH MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis LEXMATCH +MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis LEXMATCH MONDO:0006723 denture stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym denture stomatitis LEXMATCH MONDO:0006731 drug-induced akathisia skos:exactMatch ICD10CM:G25.71 Drug induced akathisia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006733 dry eye syndrome skos:exactMatch ICD10CM:H04.12 Dry eye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dry eye syndrome LEXMATCH @@ -876,9 +874,9 @@ MONDO:0006815 jejunal cancer skos:exactMatch ICD10CM:C17.1 Malignant neoplasm of MONDO:0006820 kidney cortex necrosis skos:exactMatch ICD10CM:N17.1 Acute kidney failure with acute cortical necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cortical necrosis LEXMATCH MONDO:0006827 lateral medullary syndrome skos:exactMatch ICD10CM:G46.3 Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wallenberg syndrome LEXMATCH MONDO:0006830 leukoplakia of penis skos:exactMatch ICD10CM:N48.0 Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis LEXMATCH -MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.4 Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect LEXMATCH -MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.5 Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect LEXMATCH MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.9 Malignant neoplasm of lip, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified LEXMATCH +MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.5 Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect LEXMATCH +MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.4 Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect LEXMATCH MONDO:0006835 lipoid nephrosis skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoid nephrosis LEXMATCH MONDO:0006835 lipoid nephrosis skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoid nephrosis LEXMATCH MONDO:0006840 lymphangiectasis skos:exactMatch ICD10CM:I89.0 Lymphedema, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangiectasis LEXMATCH @@ -886,32 +884,32 @@ MONDO:0006846 malignant hypertension skos:exactMatch ICD10CM:I16.1 Hypertensive MONDO:0006851 meconium aspiration syndrome skos:exactMatch ICD10CM:P24.0 Meconium aspiration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium aspiration LEXMATCH MONDO:0006862 myofascial pain syndrome skos:exactMatch ICD10CM:M79.1 Myalgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myofascial pain syndrome LEXMATCH MONDO:0006864 necrotizing sialometaplasia skos:exactMatch ICD10CM:K11.8 Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym necrotizing sialometaplasia LEXMATCH -MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincents angina LEXMATCH MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trench mouth LEXMATCH +MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincents angina LEXMATCH MONDO:0006875 ocular hypertension skos:exactMatch ICD10CM:H40.05 Ocular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension LEXMATCH -MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H47.11 Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H46.0 Optic papillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic papillitis LEXMATCH +MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H47.11 Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure LEXMATCH MONDO:0006884 panophthalmitis skos:exactMatch ICD10CM:H44.01 Panophthalmitis (acute) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panophthalmitis LEXMATCH MONDO:0006896 peptic esophagitis skos:exactMatch ICD10CM:K21.00 Gastro-esophageal reflux disease with esophagitis, without bleeding semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflux esophagitis LEXMATCH MONDO:0006903 peroneal nerve paralysis skos:exactMatch ICD10CM:G57.3 Lesion of lateral popliteal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal nerve palsy LEXMATCH -MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch ICD10CM:Q24.3 Pulmonary infundibular stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary infundibular stenosis LEXMATCH MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch ICD10CM:Q24.3 Pulmonary infundibular stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subvalvular pulmonic stenosis LEXMATCH +MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch ICD10CM:Q24.3 Pulmonary infundibular stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary infundibular stenosis LEXMATCH MONDO:0006939 pyelonephritis skos:exactMatch ICD10CM:N16 Renal tubulo-interstitial disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyelonephritis LEXMATCH MONDO:0006940 radial nerve lesion skos:exactMatch ICD10CM:G56.3 Lesion of radial nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lesion of radial nerve LEXMATCH MONDO:0006941 rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label streptobacillosis LEXMATCH MONDO:0006941 rat-bite fever skos:exactMatch ICD10CM:A25.0 Spirillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spirillosis LEXMATCH MONDO:0006945 renal artery obstruction skos:exactMatch ICD10CM:N28.0 Ischemia and infarction of kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal artery obstruction LEXMATCH MONDO:0006950 retinal vasculitis skos:exactMatch ICD10CM:H35.06 Retinal vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal vasculitis LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:exactMatch ICD10CM:H35.1 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity LEXMATCH MONDO:0006952 retinopathy of prematurity skos:exactMatch ICD10CM:H35.17 Retrolental fibroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retrolental fibroplasia LEXMATCH +MONDO:0006952 retinopathy of prematurity skos:exactMatch ICD10CM:H35.1 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity LEXMATCH MONDO:0006955 rheumatic heart disease skos:exactMatch ICD10CM:I09.9 Rheumatic heart disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatic carditis LEXMATCH -MONDO:0006966 secondary Parkinson disease skos:exactMatch ICD10CM:G21.9 Secondary parkinsonism, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary parkinsonism, unspecified LEXMATCH MONDO:0006966 secondary Parkinson disease skos:exactMatch ICD10CM:G21 Secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary parkinsonism LEXMATCH +MONDO:0006966 secondary Parkinson disease skos:exactMatch ICD10CM:G21.9 Secondary parkinsonism, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary parkinsonism, unspecified LEXMATCH MONDO:0006969 sialadenitis skos:exactMatch ICD10CM:K11.2 Sialoadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sialoadenitis LEXMATCH MONDO:0006977 spermatocele skos:exactMatch ICD10CM:N43.4 Spermatocele of epididymis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006981 subacute bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocarditis lenta LEXMATCH -MONDO:0007009 ureterolithiasis skos:exactMatch ICD10CM:N20.1 Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ureteric stone LEXMATCH MONDO:0007009 ureterolithiasis skos:exactMatch ICD10CM:N20.1 Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of ureter LEXMATCH +MONDO:0007009 ureterolithiasis skos:exactMatch ICD10CM:N20.1 Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ureteric stone LEXMATCH MONDO:0007011 uveoparotid fever skos:exactMatch ICD10CM:D86.89 Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever LEXMATCH MONDO:0007011 uveoparotid fever skos:exactMatch ICD10CM:D86.89 Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uveoparotid fever LEXMATCH MONDO:0007016 vitamin A deficiency skos:exactMatch ICD10CM:E50 Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency LEXMATCH @@ -923,16 +921,16 @@ MONDO:0007099 familial visceral amyloidosis skos:exactMatch ICD10CM:E85.0 Non-ne MONDO:0007122 anisocoria skos:exactMatch ICD10CM:H57.02 Anisocoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisocoria LEXMATCH MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch ICD10CM:M48.1 Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis LEXMATCH MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch ICD10CM:M48.1 Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita LEXMATCH MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia cutis congenita LEXMATCH +MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita LEXMATCH MONDO:0007150 arcus senilis skos:exactMatch ICD10CM:H18.41 Arcus senilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arcus senilis LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lown-ganong-levine syndrome LEXMATCH MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lown-ganong-levine syndrome LEXMATCH +MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lown-ganong-levine syndrome LEXMATCH MONDO:0007243 Burkitt lymphoma skos:exactMatch ICD10CM:C83.7 Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma LEXMATCH MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatocellular carcinoma LEXMATCH MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatocellular carcinoma LEXMATCH +MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma LEXMATCH +MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma LEXMATCH MONDO:0007294 central core myopathy skos:exactMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central core disorder LEXMATCH MONDO:0007303 cervical rib disease skos:exactMatch ICD10CM:Q76.5 Cervical rib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical rib LEXMATCH MONDO:0007315 cherubism skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cherubism LEXMATCH @@ -942,26 +940,25 @@ MONDO:0007340 cleidocranial dysplasia skos:exactMatch ICD10CM:Q74.0 Other congen MONDO:0007342 clubfoot skos:exactMatch ICD10CM:Q66.0 Congenital talipes equinovarus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital talipes equinovarus LEXMATCH MONDO:0007369 hereditary coproporphyria skos:exactMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria LEXMATCH MONDO:0007369 hereditary coproporphyria skos:exactMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary coproporphyria LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch ICD10CM:Q93.4 Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome LEXMATCH MONDO:0007404 Cri-du-chat syndrome skos:exactMatch ICD10CM:Q93.4 Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri-du-chat syndrome LEXMATCH +MONDO:0007404 Cri-du-chat syndrome skos:exactMatch ICD10CM:Q93.4 Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome LEXMATCH MONDO:0007405 Crouzon syndrome skos:exactMatch ICD10CM:Q75.1 Craniofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial dysostosis LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryoglobulinemic vasculitis LEXMATCH MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential cryoglobulinemia LEXMATCH +MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryoglobulinemic vasculitis LEXMATCH MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia LEXMATCH MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary cryoglobulinemia LEXMATCH MONDO:0007417 Darier disease skos:exactMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis follicularis LEXMATCH MONDO:0007430 dens evaginatus skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus LEXMATCH MONDO:0007430 dens evaginatus skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dens evaginatus LEXMATCH -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch ICD10CM:I67.850 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cadasil LEXMATCH MONDO:0007473 Duane retraction syndrome skos:exactMatch ICD10CM:H50.81 Duane's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duanes syndrome LEXMATCH MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beckwith-wiedemann syndrome LEXMATCH MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beckwith-wiedemann syndrome LEXMATCH +MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beckwith-wiedemann syndrome LEXMATCH MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch ICD10CM:E31.21 Multiple endocrine neoplasia [MEN] type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wermers syndrome LEXMATCH MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camurati-engelmann syndrome LEXMATCH MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive diaphyseal dysplasia LEXMATCH -MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermoid cyst LEXMATCH MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:L72.0 Epidermal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermal cyst LEXMATCH +MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermoid cyst LEXMATCH MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial erythrocytosis LEXMATCH MONDO:0007576 esophageal cancer skos:exactMatch ICD10CM:C15 Malignant neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of esophagus LEXMATCH MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid arthritis with splenoadenomegaly and leukopenia LEXMATCH @@ -969,8 +966,8 @@ MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome sema MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0007639 fundus albipunctatus skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary retinal dystrophy LEXMATCH -MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH +MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis LEXMATCH MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch ICD10CM:A81.82 Gerstmann-Sträussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007661 Tourette syndrome skos:exactMatch ICD10CM:F95.2 Tourette's disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tourettes syndrome LEXMATCH @@ -979,21 +976,21 @@ MONDO:0007732 Holt-Oram syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malfor MONDO:0007732 Holt-Oram syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holt-oram syndrome LEXMATCH MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huntingtons disorder LEXMATCH MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym huntingtons chorea LEXMATCH -MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia LEXMATCH MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia LEXMATCH -MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid LEXMATCH +MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia LEXMATCH MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpigmentation of eyelid LEXMATCH -MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia LEXMATCH +MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid LEXMATCH MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondroplasia LEXMATCH +MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia LEXMATCH MONDO:0007827 inclusion body myositis skos:exactMatch ICD10CM:G72.41 Inclusion body myositis [IBM] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis LEXMATCH MONDO:0007863 Kleine-Levin syndrome skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome LEXMATCH MONDO:0007863 Kleine-Levin syndrome skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kleine-levin syndrome LEXMATCH MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-trenaunay-weber syndrome LEXMATCH MONDO:0007869 Kyrle disease skos:exactMatch ICD10CM:L87.0 Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kyrle disorder LEXMATCH MONDO:0007869 Kyrle disease skos:exactMatch ICD10CM:L87.0 Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kyrle disorder LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91 Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis LEXMATCH MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91.3 Pseudocoxalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudocoxalgia LEXMATCH MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91.2 Coxa plana semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coxa plana LEXMATCH +MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91 Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis LEXMATCH MONDO:0007886 uterine corpus leiomyoma skos:exactMatch ICD10CM:D25 Leiomyoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine fibroid LEXMATCH MONDO:0007896 acute monocytic leukemia skos:exactMatch ICD10CM:C93.0 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 LEXMATCH MONDO:0007915 systemic lupus erythematosus skos:exactMatch ICD10CM:M32 Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic lupus erythematosus LEXMATCH @@ -1003,54 +1000,54 @@ MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exa MONDO:0007946 jaw-winking syndrome skos:exactMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome LEXMATCH MONDO:0007946 jaw-winking syndrome skos:exactMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jaw-winking syndrome LEXMATCH MONDO:0007947 Marfan syndrome skos:exactMatch ICD10CM:Q87.4 Marfan's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfans syndrome LEXMATCH -MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckels diverticulum LEXMATCH MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH +MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckels diverticulum LEXMATCH MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH +MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH +MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome LEXMATCH MONDO:0007972 Meniere disease skos:exactMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo LEXMATCH MONDO:0008007 tooth ankylosis skos:exactMatch ICD10CM:K03.5 Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth LEXMATCH -MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monilethrix LEXMATCH MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix LEXMATCH +MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monilethrix LEXMATCH MONDO:0008039 tropical spastic paraparesis skos:exactMatch ICD10CM:G04.1 Tropical spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tropical spastic paraplegia LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant centronuclear myopathy LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy LEXMATCH MONDO:0008054 juvenile dermatomyositis skos:exactMatch ICD10CM:M33.0 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disorder LEXMATCH MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophia myotonica LEXMATCH +MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disorder LEXMATCH MONDO:0008061 nail-patella syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nail patella syndrome LEXMATCH MONDO:0008075 schwannomatosis skos:exactMatch ICD10CM:Q85.03 Schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwannomatosis LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodic neutropenia LEXMATCH MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cyclic hematopoiesis LEXMATCH +MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodic neutropenia LEXMATCH MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cyclic hematopoiesis LEXMATCH MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anancastic neurosis LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH +MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH MONDO:0008145 Ollier disease skos:exactMatch ICD10CM:Q78.4 Enchondromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olliers disorder LEXMATCH MONDO:0008170 ovarian cancer skos:exactMatch ICD10CM:C56 Malignant neoplasm of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ovary LEXMATCH MONDO:0008171 nephrolithiasis skos:exactMatch ICD10CM:N20 Calculus of kidney and ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of kidney and ureter LEXMATCH MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paramyotonia congenita LEXMATCH MONDO:0008213 pectus excavatum skos:exactMatch ICD10CM:Q67.6 Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperkalemic periodic paralysis LEXMATCH MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperkalemic periodic paralysis LEXMATCH MONDO:0008228 pernicious anemia skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biermer anemia LEXMATCH MONDO:0008231 Peyronie disease skos:exactMatch ICD10CM:N48.6 Induration penis plastica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peyronies disorder LEXMATCH -MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism LEXMATCH MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym piebaldism LEXMATCH +MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism LEXMATCH MONDO:0008262 Poland syndrome skos:exactMatch ICD10CM:Q79.8 Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poland syndrome LEXMATCH MONDO:0008262 Poland syndrome skos:exactMatch ICD10CM:Q79.8 Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym poland syndrome LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH +MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH MONDO:0008300 Prader-Willi syndrome skos:exactMatch ICD10CM:Q87.11 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome LEXMATCH MONDO:0008315 prostate cancer skos:exactMatch ICD10CM:C61 Malignant neoplasm of prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prostate LEXMATCH MONDO:0008320 Protrusio acetabuli skos:exactMatch ICD10CM:M24.7 Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli LEXMATCH MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch ICD10CM:Q10.0 Congenital ptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ptosis LEXMATCH MONDO:0008346 pulmonary hemosiderosis skos:exactMatch ICD10CM:J84.03 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary hemosiderosis LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy LEXMATCH MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy LEXMATCH MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy LEXMATCH +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy LEXMATCH MONDO:0008354 purpura simplex skos:exactMatch ICD10CM:D69.2 Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura simplex LEXMATCH MONDO:0008354 purpura simplex skos:exactMatch ICD10CM:D69.2 Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura simplex LEXMATCH MONDO:0008388 ringed hair disease skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili annulati LEXMATCH @@ -1087,23 +1084,24 @@ MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-e MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome LEXMATCH MONDO:0008692 abetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abetalipoproteinemia LEXMATCH MONDO:0008692 abetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abetalipoproteinemia LEXMATCH -MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiospasm LEXMATCH MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia of cardia LEXMATCH +MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiospasm LEXMATCH MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch ICD10CM:E83.39 Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid phosphatase deficiency LEXMATCH MONDO:0008713 acrodermatitis enteropathica skos:exactMatch ICD10CM:E83.2 Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica LEXMATCH MONDO:0008713 acrodermatitis enteropathica skos:exactMatch ICD10CM:E83.2 Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrodermatitis enteropathica LEXMATCH +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.312 Short chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008737 congenital afibrinogenemia skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital afibrinogenemia LEXMATCH MONDO:0008740 agnathia-otocephaly complex skos:exactMatch ICD10CM:Q18.2 Other branchial cleft malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otocephaly LEXMATCH -MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria LEXMATCH MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria LEXMATCH +MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria LEXMATCH MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch ICD10CM:G31.81 Alpers disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers disorder LEXMATCH MONDO:0008783 Tangier disease skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tangier disorder LEXMATCH MONDO:0008783 Tangier disease skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tangier disorder LEXMATCH MONDO:0008813 arachnoid cyst skos:exactMatch ICD10CM:G93.0 Cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arachnoid cyst LEXMATCH MONDO:0008814 hyperargininemia skos:exactMatch ICD10CM:E72.21 Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argininemia LEXMATCH MONDO:0008829 chylous ascites skos:exactMatch ICD10CM:I89.8 Other specified noninfective disorders of lymphatic vessels and lymph nodes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylous ascites LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria LEXMATCH MONDO:0008830 aspartylglucosaminuria skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspartylglucosaminuria LEXMATCH +MONDO:0008830 aspartylglucosaminuria skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria LEXMATCH MONDO:0008840 ataxia telangiectasia skos:exactMatch ICD10CM:G11.3 Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxia telangiectasia LEXMATCH MONDO:0008840 ataxia telangiectasia skos:exactMatch ICD10CM:G11.3 Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia telangiectasia LEXMATCH MONDO:0008867 biliary atresia skos:exactMatch ICD10CM:Q44.2 Atresia of bile ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of bile ducts LEXMATCH @@ -1111,13 +1109,13 @@ MONDO:0008889 thromboangiitis obliterans skos:exactMatch ICD10CM:I73.1 Thromboan MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch ICD10CM:E71.41 Primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary carnitine deficiency LEXMATCH MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch ICD10CM:G11.19 Other early-onset cerebellar ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset cerebellar ataxia with retained tendon reflexes LEXMATCH MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch ICD10CM:H31.22 Choroidal dystrophy (central areolar) (generalized) (peripapillary) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal dystrophy LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia LEXMATCH +MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009010 aortic arch interruption skos:exactMatch ICD10CM:Q25.21 Interruption of aortic arch semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009016 band keratopathy skos:exactMatch ICD10CM:H18.42 Band keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label band keratopathy LEXMATCH MONDO:0009022 corpus callosum, agenesis of skos:exactMatch ICD10CM:Q04.0 Congenital malformations of corpus callosum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of corpus callosum LEXMATCH -MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria LEXMATCH MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria LEXMATCH +MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria LEXMATCH MONDO:0009067 cystinuria skos:exactMatch ICD10CM:E72.01 Cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria LEXMATCH MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka LEXMATCH MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dandy-walker syndrome LEXMATCH @@ -1125,55 +1123,55 @@ MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of for MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch ICD10CM:E74.31 Sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sucrase-isomaltase deficiency LEXMATCH MONDO:0009124 Dubowitz syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome LEXMATCH MONDO:0009124 Dubowitz syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubowitz syndrome LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia LEXMATCH MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dysautonomia LEXMATCH +MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia LEXMATCH MONDO:0009144 Ebstein anomaly skos:exactMatch ICD10CM:Q22.5 Ebstein's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebsteins anomaly LEXMATCH MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondroectodermal dysplasia LEXMATCH MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH +MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondroectodermal dysplasia LEXMATCH MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch ICD10CM:Q81.1 Epidermolysis bullosa letalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa letalis LEXMATCH MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch ICD10CM:D60.1 Transient acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient acquired pure red cell aplasia LEXMATCH MONDO:0009210 congenital factor V deficiency skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proaccelerin deficiency LEXMATCH MONDO:0009211 congenital factor VII deficiency skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproconvertinemia LEXMATCH MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis LEXMATCH MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fucosidosis LEXMATCH -MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency LEXMATCH MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency LEXMATCH +MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency LEXMATCH MONDO:0009275 neonatal hemochromatosis skos:exactMatch ICD10CM:P78.84 Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis LEXMATCH MONDO:0009290 glycogen storage disease II skos:exactMatch ICD10CM:E74.02 Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disorder LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disorder LEXMATCH MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disorder LEXMATCH +MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disorder LEXMATCH MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andersen disorder LEXMATCH MONDO:0009293 glycogen storage disease V skos:exactMatch ICD10CM:E74.04 McArdle disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcardle disorder LEXMATCH MONDO:0009294 glycogen storage disease VI skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disorder LEXMATCH MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hallervorden-spatz disorder LEXMATCH MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmentary pallidal degeneration LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubin-johnson syndrome LEXMATCH MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubin-johnson syndrome LEXMATCH -MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH +MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubin-johnson syndrome LEXMATCH MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed hyperglyceridemia LEXMATCH +MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia LEXMATCH -MONDO:0009388 hyperlysinemia skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlysinemia LEXMATCH +MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed hyperglyceridemia LEXMATCH MONDO:0009388 hyperlysinemia skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlysinemia LEXMATCH +MONDO:0009388 hyperlysinemia skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlysinemia LEXMATCH MONDO:0009451 Nezelof syndrome skos:exactMatch ICD10CM:D81.4 Nezelof's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nezelofs syndrome LEXMATCH MONDO:0009468 pseudotumor cerebri skos:exactMatch ICD10CM:G93.2 Benign intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign intracranial hypertension LEXMATCH MONDO:0009476 atresia of small intestine skos:exactMatch ICD10CM:Q41.1 Congenital absence, atresia and stenosis of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apple peel syndrome LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome LEXMATCH MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome LEXMATCH +MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome LEXMATCH MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym letterer-siwe disorder LEXMATCH MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym letterer-siwe disorder LEXMATCH -MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chylomicron retention disorder LEXMATCH MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disorder LEXMATCH +MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chylomicron retention disorder LEXMATCH MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome LEXMATCH MONDO:0009650 mucolipidosis type II skos:exactMatch ICD10CM:E77.0 Defects in post-translational modification of lysosomal enzymes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis ii LEXMATCH MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a LEXMATCH MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b LEXMATCH MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH -MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis LEXMATCH +MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis LEXMATCH +MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis LEXMATCH MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch ICD10CM:G40.B Juvenile myoclonic epilepsy [impulsive petit mal] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy LEXMATCH MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch ICD10CM:G71.13 Myotonic chondrodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotonic chondrodystrophy LEXMATCH MONDO:0009723 Leigh syndrome skos:exactMatch ICD10CM:G31.82 Leigh's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leighs disorder LEXMATCH @@ -1181,10 +1179,10 @@ MONDO:0009755 neutrophil actin dysfunction skos:exactMatch ICD10CM:D22 Melanocyt MONDO:0009756 Niemann-Pick disease type A skos:exactMatch ICD10CM:E75.240 Niemann-Pick disease type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder type a LEXMATCH MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cross syndrome LEXMATCH MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch ICD10CM:M86.3 Chronic multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic multifocal osteomyelitis LEXMATCH -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25 Malignant neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pancreas LEXMATCH -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.0 Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas LEXMATCH -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.2 Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas LEXMATCH MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.1 Malignant neoplasm of body of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of pancreas LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.2 Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.0 Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25 Malignant neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pancreas LEXMATCH MONDO:0009846 pentosuria skos:exactMatch ICD10CM:E74.89 Other specified disorders of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential pentosuria LEXMATCH MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency LEXMATCH MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.115 Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disorder LEXMATCH @@ -1195,14 +1193,14 @@ MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of gly MONDO:0010011 schizencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schizencephaly LEXMATCH MONDO:0010011 schizencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizencephaly LEXMATCH MONDO:0010030 Sjogren syndrome skos:exactMatch ICD10CM:M35.0 Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sicca syndrome LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria LEXMATCH +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria LEXMATCH MONDO:0010085 Schilder disease skos:exactMatch ICD10CM:G37.0 Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilders disorder LEXMATCH MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency LEXMATCH -MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia LEXMATCH MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia LEXMATCH +MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia LEXMATCH MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism LEXMATCH MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym taurodontism LEXMATCH MONDO:0010138 thyrotoxicosis skos:exactMatch ICD10CM:E05 Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxicosis LEXMATCH @@ -1217,11 +1215,11 @@ MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch ICD10CM:D80.0 Hered MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor viii deficiency LEXMATCH MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia a LEXMATCH MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia a LEXMATCH -MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency LEXMATCH -MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia b LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b LEXMATCH +MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency LEXMATCH +MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder LEXMATCH MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch ICD10CM:Q80.1 X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis LEXMATCH MONDO:0010631 incontinentia pigmenti skos:exactMatch ICD10CM:Q82.3 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti LEXMATCH MONDO:0010683 X-linked centronuclear myopathy skos:exactMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy LEXMATCH @@ -1238,11 +1236,11 @@ MONDO:0011182 trimethylaminuria skos:exactMatch ICD10CM:E72.52 Trimethylaminuria MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch ICD10CM:M48.8 Other specified spondylopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ossification of posterior longitudinal ligament LEXMATCH MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic myopathy LEXMATCH MONDO:0011284 astigmatism skos:exactMatch ICD10CM:H52.2 Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism LEXMATCH +MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.2 Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disorder LEXMATCH MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.1 Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disorder without crisis LEXMATCH MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.20 Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis LEXMATCH -MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.2 Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disorder LEXMATCH -MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly LEXMATCH MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peters anomaly LEXMATCH +MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly LEXMATCH MONDO:0011438 acne skos:exactMatch ICD10CM:L70.0 Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris LEXMATCH MONDO:0011438 acne skos:exactMatch ICD10CM:L70 Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne LEXMATCH MONDO:0011438 acne skos:exactMatch ICD10CM:L70.2 Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis LEXMATCH @@ -1250,9 +1248,9 @@ MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch ICD10CM:G90. MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch ICD10CM:G90.5 Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflex sympathetic dystrophy LEXMATCH MONDO:0011565 metabolic syndrome X skos:exactMatch ICD10CM:E88.81 Metabolic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysmetabolic syndrome x LEXMATCH MONDO:0011612 glycine encephalopathy skos:exactMatch ICD10CM:E72.51 Non-ketotic hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-ketotic hyperglycinemia LEXMATCH -MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis LEXMATCH -MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis LEXMATCH MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pars planitis LEXMATCH +MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis LEXMATCH +MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis LEXMATCH MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch ICD10CM:C49.A Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal stromal tumor LEXMATCH MONDO:0011731 glucose-galactose malabsorption skos:exactMatch ICD10CM:E74.39 Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucose-galactose malabsorption LEXMATCH MONDO:0011731 glucose-galactose malabsorption skos:exactMatch ICD10CM:E74.39 Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucose-galactose malabsorption LEXMATCH @@ -1262,19 +1260,19 @@ MONDO:0011876 juvenile absence epilepsy skos:exactMatch ICD10CM:G40.A Absence ep MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch ICD10CM:D72.110 Idiopathic hypereosinophilic syndrome [IHES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypereosinophilic syndrome LEXMATCH MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch ICD10CM:C93.3 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myelomonocytic leukemia LEXMATCH MONDO:0011962 endometrial cancer skos:exactMatch ICD10CM:C54.1 Malignant neoplasm of endometrium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of endometrium LEXMATCH -MONDO:0012038 speech-sound disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-sound disorder LEXMATCH MONDO:0012038 speech-sound disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym speech-sound disorder LEXMATCH +MONDO:0012038 speech-sound disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-sound disorder LEXMATCH MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch ICD10CM:E70.81 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatic l-amino acid decarboxylase deficiency LEXMATCH MONDO:0012316 Majeed syndrome skos:exactMatch ICD10CM:M04.8 Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym majeed syndrome LEXMATCH MONDO:0012316 Majeed syndrome skos:exactMatch ICD10CM:M04.8 Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym majeed syndrome LEXMATCH -MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80.2 Calculus of gallbladder without cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholelithiasis LEXMATCH MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80 Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis LEXMATCH +MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80.2 Calculus of gallbladder without cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholelithiasis LEXMATCH MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch ICD10CM:M30.3 Mucocutaneous lymph node syndrome [Kawasaki] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous lymph node syndrome LEXMATCH MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch ICD10CM:E74.810 Glucose transporter protein type 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2, childhood onset LEXMATCH MONDO:0012883 acute promyelocytic leukemia skos:exactMatch ICD10CM:C92.4 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute promyelocytic leukemia LEXMATCH +MONDO:0012897 congenital factor XI deficiency skos:exactMatch ICD10CM:D68.1 Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosenthals disorder LEXMATCH MONDO:0012897 congenital factor XI deficiency skos:exactMatch ICD10CM:D68.1 Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia c LEXMATCH MONDO:0012897 congenital factor XI deficiency skos:exactMatch ICD10CM:D68.1 Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor xi deficiency LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:exactMatch ICD10CM:D68.1 Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosenthals disorder LEXMATCH MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch ICD10CM:I27.24 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic thromboembolic pulmonary hypertension LEXMATCH MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch ICD10CM:E79.2 Myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoadenylate deaminase deficiency LEXMATCH MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antithrombin iii deficiency LEXMATCH @@ -1284,29 +1282,29 @@ MONDO:0013433 primary sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Prim MONDO:0013571 acatalasia skos:exactMatch ICD10CM:E80.3 Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acatalasia LEXMATCH MONDO:0013571 acatalasia skos:exactMatch ICD10CM:E80.3 Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acatalasia LEXMATCH MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch ICD10CM:D80.8 Other immunodeficiencies with predominantly antibody defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kappa light chain deficiency LEXMATCH -MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.1 Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis LEXMATCH MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.7 Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label barretts esophagus LEXMATCH MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.7 Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barretts syndrome LEXMATCH +MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.1 Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis LEXMATCH MONDO:0013730 graft versus host disease skos:exactMatch ICD10CM:D89.81 Graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency LEXMATCH MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency LEXMATCH +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency LEXMATCH MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch ICD10CM:E88.09 Other disorders of plasma-protein metabolism, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bisalbuminemia LEXMATCH MONDO:0014452 familial dysfibrinogenemia skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysfibrinogenemia LEXMATCH MONDO:0014624 Brown syndrome skos:exactMatch ICD10CM:H50.61 Brown's sheath syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label browns sheath syndrome LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha heavy chain disorder LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder LEXMATCH MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean lymphoma LEXMATCH +MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder LEXMATCH +MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha heavy chain disorder LEXMATCH MONDO:0015104 porphyria cutanea tarda skos:exactMatch ICD10CM:E80.1 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda LEXMATCH +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder LEXMATCH MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis LEXMATCH MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary adrenocortical insufficiency LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder LEXMATCH MONDO:0015134 constitutional neutropenia skos:exactMatch ICD10CM:D70.0 Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia LEXMATCH MONDO:0015134 constitutional neutropenia skos:exactMatch ICD10CM:D70.0 Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile genetic agranulocytosis LEXMATCH MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch ICD10CM:Q74.3 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita LEXMATCH MONDO:0015231 Bartter syndrome skos:exactMatch ICD10CM:E26.81 Bartter's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartters syndrome LEXMATCH MONDO:0015254 schistosomiasis skos:exactMatch ICD10CM:B65 Schistosomiasis [bilharziasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis LEXMATCH -MONDO:0015263 Brugada syndrome skos:exactMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brugada syndrome LEXMATCH MONDO:0015263 Brugada syndrome skos:exactMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brugada syndrome LEXMATCH +MONDO:0015263 Brugada syndrome skos:exactMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brugada syndrome LEXMATCH MONDO:0015274 chronic beryllium disease skos:exactMatch ICD10CM:J63.2 Berylliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label berylliosis LEXMATCH MONDO:0015299 Asherman syndrome skos:exactMatch ICD10CM:N85.6 Intrauterine synechiae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrauterine synechiae LEXMATCH MONDO:0015339 adrenomyeloneuropathy skos:exactMatch ICD10CM:E71.522 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyeloneuropathy LEXMATCH @@ -1316,26 +1314,26 @@ MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch ICD10CM:G6 MONDO:0015397 oculo-auriculo-vertebral spectrum skos:exactMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldenhar syndrome LEXMATCH MONDO:0015450 triatrial heart skos:exactMatch ICD10CM:Q24.2 Cor triatriatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor triatriatum LEXMATCH MONDO:0015453 Cogan syndrome skos:exactMatch ICD10CM:H16.32 Diffuse interstitial keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cogans syndrome LEXMATCH +MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency LEXMATCH MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.819 Biotin-dependent carboxylase deficiency, unspecified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple carboxylase deficiency LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency LEXMATCH MONDO:0015483 mandibulofacial dysostosis skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis LEXMATCH MONDO:0015486 keratoconus skos:exactMatch ICD10CM:H18.6 Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus LEXMATCH MONDO:0015496 macroglossia skos:exactMatch ICD10CM:Q38.2 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10CM:D83 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency LEXMATCH MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10CM:D80.1 Nonfamilial hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common variable agammaglobulinemia LEXMATCH +MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10CM:D83 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency LEXMATCH MONDO:0015540 hemophagocytic syndrome skos:exactMatch ICD10CM:D76.1 Hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemophagocytic lymphohistiocytosis LEXMATCH MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch ICD10CM:D47.02 Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated bone marrow mastocytosis LEXMATCH MONDO:0015613 dentin dysplasia skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinal dysplasia LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disorder LEXMATCH MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder LEXMATCH +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disorder LEXMATCH +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy LEXMATCH MONDO:0015636 dirofilariasis skos:exactMatch ICD10CM:B74.8 Other filariases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dirofilariasis LEXMATCH MONDO:0015661 dextrocardia skos:exactMatch ICD10CM:Q24.0 Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia LEXMATCH +MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symbiotic psychosis LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hellers syndrome LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dementia infantilis LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symbiotic psychosis LEXMATCH MONDO:0015691 hypereosinophilic syndrome skos:exactMatch ICD10CM:D72.11 Hypereosinophilic syndrome [HES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome LEXMATCH MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym refractory anemia with excess blasts in transformation LEXMATCH MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive centronuclear myopathy LEXMATCH @@ -1344,11 +1342,11 @@ MONDO:0015839 septate uterus skos:exactMatch ICD10CM:Q51.2 Other doubling of ute MONDO:0015840 complete septate uterus skos:exactMatch ICD10CM:Q51.21 Complete doubling of uterus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complete septate uterus LEXMATCH MONDO:0015841 partial septate uterus skos:exactMatch ICD10CM:Q51.22 Partial doubling of uterus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial septate uterus LEXMATCH MONDO:0015849 longitudinal vaginal septum skos:exactMatch ICD10CM:Q52.12 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label longitudinal vaginal septum LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch ICD10CM:M30.1 Polyarteritis with lung involvement [Churg-Strauss] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic granulomatous angiitis LEXMATCH MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch ICD10CM:M30.1 Polyarteritis with lung involvement [Churg-Strauss] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granulomatosis with polyangiitis LEXMATCH +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch ICD10CM:M30.1 Polyarteritis with lung involvement [Churg-Strauss] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic granulomatous angiitis LEXMATCH MONDO:0015987 scimitar syndrome skos:exactMatch ICD10CM:Q26.8 Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:exactMatch ICD10CM:Q61.4 Renal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multicystic dysplastic kidney LEXMATCH MONDO:0015988 multicystic dysplastic kidney skos:exactMatch ICD10CM:Q61.4 Renal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic renal dysplasia LEXMATCH +MONDO:0015988 multicystic dysplastic kidney skos:exactMatch ICD10CM:Q61.4 Renal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multicystic dysplastic kidney LEXMATCH MONDO:0016003 ehrlichiosis skos:exactMatch ICD10CM:A77.4 Ehrlichiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehrlichiosis LEXMATCH MONDO:0016006 Cockayne syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome LEXMATCH MONDO:0016011 fetal alcohol syndrome skos:exactMatch ICD10CM:Q86.0 Fetal alcohol syndrome (dysmorphic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal alcohol syndrome LEXMATCH @@ -1372,8 +1370,8 @@ MONDO:0016301 congenitally corrected transposition of the great arteries skos:ex MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydranencephaly LEXMATCH MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydranencephaly LEXMATCH MONDO:0016367 dermatomyositis skos:exactMatch ICD10CM:M33 Dermatopolymyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermatopolymyositis LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch ICD10CM:G52.1 Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glossopharyngeal neuralgia LEXMATCH MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch ICD10CM:G52.1 Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glossopharyngeal neuralgia LEXMATCH +MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch ICD10CM:G52.1 Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glossopharyngeal neuralgia LEXMATCH MONDO:0016466 asbestosis skos:exactMatch ICD10CM:J61 Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis LEXMATCH MONDO:0016466 asbestosis skos:exactMatch ICD10CM:J61 Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis LEXMATCH MONDO:0016486 beta-thalassemia major skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major LEXMATCH @@ -1391,15 +1389,15 @@ MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch ICD10CM:M67.0 Short MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch ICD10CM:Q77.7 Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia LEXMATCH MONDO:0016770 actinic lichen planus skos:exactMatch ICD10CM:L43.3 Subacute (active) lichen planus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lichen planus tropicus LEXMATCH MONDO:0016820 Moyamoya disease skos:exactMatch ICD10CM:I67.5 Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH +MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch ICD10CM:H20.81 Fuchs' heterochromic cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fuchs' heterochromic cyclitis LEXMATCH MONDO:0017069 spina bifida cystica skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningomyelocele LEXMATCH MONDO:0017078 cephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele LEXMATCH MONDO:0017079 meningoencephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele LEXMATCH MONDO:0017079 meningoencephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalocele LEXMATCH -MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noma LEXMATCH MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancrum oris LEXMATCH +MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noma LEXMATCH MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary pulmonary arterial hypertension LEXMATCH MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic pulmonary arterial hypertension LEXMATCH MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heritable pulmonary arterial hypertension LEXMATCH @@ -1415,10 +1413,10 @@ MONDO:0017276 frontotemporal dementia skos:exactMatch ICD10CM:G31.0 Frontotempor MONDO:0017304 ocular albinism skos:exactMatch ICD10CM:E70.31 Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism LEXMATCH MONDO:0017362 neuralgic amyotrophy skos:exactMatch ICD10CM:G54.5 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy LEXMATCH MONDO:0017373 poliomyelitis skos:exactMatch ICD10CM:A80 Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis LEXMATCH -MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.1 Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy LEXMATCH +MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder LEXMATCH MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive arthritis LEXMATCH MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis LEXMATCH -MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder LEXMATCH +MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.1 Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy LEXMATCH MONDO:0017410 porencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly LEXMATCH MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch ICD10CM:G14 Postpolio syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postpolio syndrome LEXMATCH MONDO:0017450 split foot skos:exactMatch ICD10CM:Q72.7 Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot LEXMATCH @@ -1432,9 +1430,9 @@ MONDO:0017708 mevalonate kinase deficiency skos:exactMatch ICD10CM:M04.1 Periodi MONDO:0017734 sialidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sialidosis LEXMATCH MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoalphalipoproteinemia LEXMATCH MONDO:0017774 hypobetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypobetalipoproteinemia LEXMATCH -MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.2 Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis LEXMATCH MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.1 Acute and fulminating melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute and fulminating melioidosis LEXMATCH MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.9 Melioidosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym whitmores disorder LEXMATCH +MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.2 Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis LEXMATCH MONDO:0017778 lamellar ichthyosis skos:exactMatch ICD10CM:Q80.2 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis LEXMATCH MONDO:0017858 acute erythroid leukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia LEXMATCH MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch ICD10CM:Q25.6 Stenosis of pulmonary artery semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supravalvular pulmonary stenosis LEXMATCH @@ -1449,17 +1447,17 @@ MONDO:0017991 Takayasu arteritis skos:exactMatch ICD10CM:M31.4 Aortic arch syndr MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch ICD10CM:E85.82 Wild-type transthyretin-related (ATTR) amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis LEXMATCH MONDO:0018025 chronic actinic dermatitis skos:exactMatch ICD10CM:L57.1 Actinic reticuloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic reticuloid LEXMATCH MONDO:0018044 idiopathic hypersomnia skos:exactMatch ICD10CM:F51.11 Primary hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypersomnia LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk LEXMATCH MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus LEXMATCH +MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk LEXMATCH +MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus LEXMATCH MONDO:0018088 familial Mediterranean fever skos:exactMatch ICD10CM:M04.1 Periodic fever syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever LEXMATCH MONDO:0018089 double outlet right ventricle skos:exactMatch ICD10CM:Q20.3 Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dextrotransposition of aorta LEXMATCH MONDO:0018090 double outlet left ventricle skos:exactMatch ICD10CM:Q20.2 Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle LEXMATCH MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H20.82 Vogt-Koyanagi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vogt-koyanagi syndrome LEXMATCH MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H30.81 Harada's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label haradas disorder LEXMATCH MONDO:0018097 West syndrome skos:exactMatch ICD10CM:G40.82 Epileptic spasms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile spasms LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:exactMatch ICD10CM:E79.8 Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary xanthinuria LEXMATCH MONDO:0018106 hereditary xanthinuria skos:exactMatch ICD10CM:E79.8 Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary xanthinuria LEXMATCH +MONDO:0018106 hereditary xanthinuria skos:exactMatch ICD10CM:E79.8 Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary xanthinuria LEXMATCH MONDO:0018116 galactosemia skos:exactMatch ICD10CM:E74.21 Galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia LEXMATCH MONDO:0018149 GM1 gangliosidosis skos:exactMatch ICD10CM:E75.19 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gm1 gangliosidosis LEXMATCH MONDO:0018155 lateral sclerosis skos:exactMatch ICD10CM:G12.23 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary lateral sclerosis LEXMATCH @@ -1469,11 +1467,11 @@ MONDO:0018305 chronic granulomatous disease skos:exactMatch ICD10CM:D71 Function MONDO:0018309 Hirschsprung disease skos:exactMatch ICD10CM:Q43.1 Hirschsprung's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hirschsprungs disorder LEXMATCH MONDO:0018362 persistent idiopathic facial pain skos:exactMatch ICD10CM:G50.1 Atypical facial pain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical facial pain LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.22 Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M91.0 Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.0 Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.1 Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.21 Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.1 Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.0 Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.4 Juvenile osteochondrosis of patella semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M91.0 Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.6 Juvenile osteochondrosis of tarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.7 Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018382 epiphysiolysis of the hip skos:exactMatch ICD10CM:M93.0 Slipped upper femoral epiphysis (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slipped upper femoral epiphysis LEXMATCH @@ -1488,31 +1486,31 @@ MONDO:0018551 patent urachus skos:exactMatch ICD10CM:Q64.4 Malformation of urach MONDO:0018551 patent urachus skos:exactMatch ICD10CM:Q64.4 Malformation of urachus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym patent urachus LEXMATCH MONDO:0018570 hypophosphatasia skos:exactMatch ICD10CM:E83.39 Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypophosphatasia LEXMATCH MONDO:0018616 central serous chorioretinopathy skos:exactMatch ICD10CM:H35.71 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central serous chorioretinopathy LEXMATCH -MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53 Mental and behavioral disorders associated with the puerperium, not elsewhere classified semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis LEXMATCH MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label puerperal psychosis LEXMATCH +MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis LEXMATCH +MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53 Mental and behavioral disorders associated with the puerperium, not elsewhere classified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sclerosing cholangitis LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis LEXMATCH MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis LEXMATCH +MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis LEXMATCH MONDO:0018666 hepatoblastoma skos:exactMatch ICD10CM:C22.2 Hepatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoblastoma LEXMATCH MONDO:0018689 plasma cell leukemia skos:exactMatch ICD10CM:C90.1 Plasma cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasma cell leukemia LEXMATCH MONDO:0018690 Holmes-Adie syndrome skos:exactMatch ICD10CM:H57.05 Tonic pupil semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonic pupil LEXMATCH MONDO:0018695 avian influenza skos:exactMatch ICD10CM:J09.X Influenza due to identified novel influenza A virus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym avian influenza LEXMATCH MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid LEXMATCH MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cicatricial pemphigoid LEXMATCH -MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2X Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion LEXMATCH MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2 Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH +MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2X Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion LEXMATCH MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH MONDO:0018815 aneurysmal bone cyst skos:exactMatch ICD10CM:M85.5 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst LEXMATCH MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentinogenesis imperfecta LEXMATCH MONDO:0018849 dentinogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta LEXMATCH +MONDO:0018849 dentinogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentinogenesis imperfecta LEXMATCH MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch ICD10CM:L72.11 Pilar cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pilar cyst LEXMATCH MONDO:0018857 creeping myiasis skos:exactMatch ICD10CM:B87.0 Cutaneous myiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym creeping myiasis LEXMATCH MONDO:0018868 metachromatic leukodystrophy skos:exactMatch ICD10CM:E75.25 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch ICD10CM:C92.5 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 LEXMATCH MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch ICD10CM:C92.5 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH +MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch ICD10CM:C92.5 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 LEXMATCH MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch ICD10CM:C94.2 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia LEXMATCH MONDO:0018874 acute myeloid leukemia skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia LEXMATCH MONDO:0018874 acute myeloid leukemia skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloblastic leukemia LEXMATCH @@ -1520,8 +1518,8 @@ MONDO:0018876 mantle cell lymphoma skos:exactMatch ICD10CM:C83.1 Mantle cell lym MONDO:0018881 myelodysplastic syndrome skos:exactMatch ICD10CM:D46 Myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndromes LEXMATCH MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy LEXMATCH MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch ICD10CM:D50.1 Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelly-paterson syndrome LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch ICD10CM:D50.1 Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sideropenic dysphagia LEXMATCH MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch ICD10CM:D50.1 Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plummer-vinson syndrome LEXMATCH +MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch ICD10CM:D50.1 Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sideropenic dysphagia LEXMATCH MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch ICD10CM:M31.19 Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombotic thrombocytopenic purpura LEXMATCH MONDO:0018903 sarcocystosis skos:exactMatch ICD10CM:A07.8 Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcocystosis LEXMATCH MONDO:0018903 sarcocystosis skos:exactMatch ICD10CM:A07.8 Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosporidiosis LEXMATCH @@ -1549,18 +1547,18 @@ MONDO:0018984 Oroya fever skos:exactMatch ICD10CM:A44.0 Systemic bartonellosis s MONDO:0018984 Oroya fever skos:exactMatch ICD10CM:A44.0 Systemic bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oroya fever LEXMATCH MONDO:0018987 granulomatous mastitis skos:exactMatch ICD10CM:N61.2 Granulomatous mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous mastitis LEXMATCH MONDO:0018992 IgG4-related thyroid disease skos:exactMatch ICD10CM:E06.5 Other chronic thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riedel thyroiditis LEXMATCH -MONDO:0018997 Noonan syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome LEXMATCH MONDO:0018997 Noonan syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome LEXMATCH +MONDO:0018997 Noonan syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome LEXMATCH MONDO:0019000 perineural cyst skos:exactMatch ICD10CM:G96.191 Perineural cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst LEXMATCH -MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney LEXMATCH -MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephronophthisis LEXMATCH MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephronophthisis LEXMATCH -MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele LEXMATCH -MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos LEXMATCH +MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephronophthisis LEXMATCH +MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney LEXMATCH MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome LEXMATCH +MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos LEXMATCH +MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele LEXMATCH MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label takotsubo syndrome LEXMATCH +MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome LEXMATCH +MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy LEXMATCH MONDO:0019023 cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytosis LEXMATCH MONDO:0019024 mast cell sarcoma skos:exactMatch ICD10CM:C96.22 Mast cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell sarcoma LEXMATCH MONDO:0019025 extracutaneous mastocytoma skos:exactMatch ICD10CM:D47.09 Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extracutaneous mastocytoma LEXMATCH @@ -1570,28 +1568,26 @@ MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progr MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive supranuclear palsy LEXMATCH MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive supranuclear ophthalmoplegia LEXMATCH MONDO:0019065 amyloidosis skos:exactMatch ICD10CM:E85 Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma LEXMATCH MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma LEXMATCH +MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma LEXMATCH MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch ICD10CM:D47.Z1 Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder LEXMATCH MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch ICD10CM:D47.Z1 Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-transplant lymphoproliferative disorder LEXMATCH MONDO:0019100 neuromyelitis optica skos:exactMatch ICD10CM:G36.0 Neuromyelitis optica [Devic] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica LEXMATCH -MONDO:0019121 pneumocystosis skos:exactMatch ICD10CM:F16 Hallucinogen related disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcp LEXMATCH MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein c deficiency LEXMATCH -MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87.9 Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified LEXMATCH MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87 Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis LEXMATCH +MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87.9 Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified LEXMATCH MONDO:0019148 Wolman disease skos:exactMatch ICD10CM:E75.5 Other lipid storage disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolmans disorder LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.51 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldberg-maxwell syndrome LEXMATCH MONDO:0019154 androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.5 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label androgen insensitivity syndrome LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch ICD10CM:D46.1 Refractory anemia with ring sideroblasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rars LEXMATCH +MONDO:0019154 androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.51 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldberg-maxwell syndrome LEXMATCH MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch ICD10CM:D46.1 Refractory anemia with ring sideroblasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia with ring sideroblasts LEXMATCH MONDO:0019165 central precocious puberty skos:exactMatch ICD10CM:E22.8 Other hyperfunction of pituitary gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central precocious puberty LEXMATCH -MONDO:0019167 immunoglobulin a vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura LEXMATCH MONDO:0019167 immunoglobulin a vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica LEXMATCH +MONDO:0019167 immunoglobulin a vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura LEXMATCH MONDO:0019168 pyomyositis skos:exactMatch ICD10CM:M60.0 Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis LEXMATCH MONDO:0019172 aniridia skos:exactMatch ICD10CM:Q13.1 Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia LEXMATCH MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch ICD10CM:Q13.81 Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riegers anomaly LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH MONDO:0019198 sympathetic ophthalmia skos:exactMatch ICD10CM:H44.13 Sympathetic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sympathetic uveitis LEXMATCH MONDO:0019200 retinitis pigmentosa skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa LEXMATCH MONDO:0019200 retinitis pigmentosa skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa LEXMATCH @@ -1607,14 +1603,14 @@ MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch ICD10CM:E7 MONDO:0019280 hypertrichosis skos:exactMatch ICD10CM:L68 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch ICD10CM:Q82.4 Ectodermal dysplasia (anhidrotic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia LEXMATCH MONDO:0019314 cutaneous mastocytoma skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maculopapular cutaneous mastocytosis LEXMATCH +MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa LEXMATCH +MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maculopapular cutaneous mastocytosis LEXMATCH MONDO:0019319 verrucous nevus skos:exactMatch ICD10CM:Q82.5 Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verrucous nevus LEXMATCH -MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis LEXMATCH -MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis LEXMATCH MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D86 Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis LEXMATCH +MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis LEXMATCH +MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis LEXMATCH MONDO:0019342 Seckel syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seckel syndrome LEXMATCH MONDO:0019349 Sotos syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome LEXMATCH MONDO:0019349 Sotos syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome LEXMATCH @@ -1624,30 +1620,30 @@ MONDO:0019360 rickettsialpox skos:exactMatch ICD10CM:A79.1 Rickettsialpox due to MONDO:0019365 scrub typhus skos:exactMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsutsugamushi fever LEXMATCH MONDO:0019367 regional odontodysplasia skos:exactMatch ICD10CM:K00.4 Disturbances in tooth formation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym regional odontodysplasia LEXMATCH MONDO:0019376 West-Nile encephalitis skos:exactMatch ICD10CM:A92.31 West Nile virus infection with encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym west nile encephalitis LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym la crosse encephalitis LEXMATCH MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label california encephalitis LEXMATCH +MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym la crosse encephalitis LEXMATCH MONDO:0019384 encephalitis lethargica skos:exactMatch ICD10CM:A85.8 Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalitis lethargica LEXMATCH MONDO:0019384 encephalitis lethargica skos:exactMatch ICD10CM:A85.8 Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym encephalitis lethargica LEXMATCH MONDO:0019391 Fanconi anemia skos:exactMatch ICD10CM:D61.09 Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconis anemia LEXMATCH MONDO:0019402 beta thalassemia skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta thalassemia LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH +MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch ICD10CM:C94.4 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis LEXMATCH MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch ICD10CM:C92.A Acute myeloid leukemia with multilineage dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with multilineage dysplasia LEXMATCH MONDO:0019458 acute basophilic leukemia skos:exactMatch ICD10CM:C94.8 Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH +MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodal marginal zone lymphoma LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm LEXMATCH +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma LEXMATCH MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell large granular lymphocytic leukemia LEXMATCH MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch ICD10CM:C94.8 Other specified leukemias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aggressive nk-cell leukemia LEXMATCH MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch ICD10CM:C94.8 Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aggressive nk-cell leukemia LEXMATCH MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch ICD10CM:M31.2 Lethal midline granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal midline granuloma LEXMATCH MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch ICD10CM:C86.0 Extranodal NK/T-cell lymphoma, nasal type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal nk/t-cell lymphoma, nasal type LEXMATCH MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch ICD10CM:C86.2 Enteropathy-type (intestinal) T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enteropathy associated t-cell lymphoma LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym langerhans cell sarcoma LEXMATCH MONDO:0019480 Langerhans cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langerhans cell sarcoma LEXMATCH +MONDO:0019480 Langerhans cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym langerhans cell sarcoma LEXMATCH MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch ICD10CM:G40.4 Other generalized epilepsy and epileptic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy with myoclonic absences LEXMATCH MONDO:0019498 tungiasis skos:exactMatch ICD10CM:B88.1 Tungiasis [sandflea infestation] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis LEXMATCH MONDO:0019499 Turner syndrome skos:exactMatch ICD10CM:Q96.0 Karyotype 45, X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyotype 45, x LEXMATCH @@ -1655,10 +1651,10 @@ MONDO:0019507 amelogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary d MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis LEXMATCH MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch ICD10CM:D59.6 Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria LEXMATCH MONDO:0019537 hemoglobin D disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disorder LEXMATCH -MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis LEXMATCH MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch ICD10CM:L93.2 Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis LEXMATCH +MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis LEXMATCH MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch ICD10CM:L93.2 Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus erythematosus profundus LEXMATCH +MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch ICD10CM:L93.2 Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis LEXMATCH MONDO:0019562 localized scleroderma skos:exactMatch ICD10CM:L94.0 Localized scleroderma [morphea] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma LEXMATCH MONDO:0019565 hereditary von Willebrand disease skos:exactMatch ICD10CM:D69.8 Other specified hemorrhagic conditions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vascular pseudohemophilia LEXMATCH MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym telangiectasia macularis eruptiva perstans LEXMATCH @@ -1675,14 +1671,14 @@ MONDO:0019773 myelomeningocele skos:exactMatch ICD10CM:Q05 Spina bifida semapv:L MONDO:0019795 acalvaria skos:exactMatch ICD10CM:Q00.0 Anencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrania LEXMATCH MONDO:0019796 acrocephalosyndactyly skos:exactMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrocephalosyndactyly LEXMATCH MONDO:0019796 acrocephalosyndactyly skos:exactMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrocephalosyndactyly LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:exactMatch ICD10CM:E27.2 Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal crisis LEXMATCH MONDO:0019801 acute adrenal insufficiency skos:exactMatch ICD10CM:E27.2 Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocortical crisis LEXMATCH +MONDO:0019801 acute adrenal insufficiency skos:exactMatch ICD10CM:E27.2 Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal crisis LEXMATCH MONDO:0019801 acute adrenal insufficiency skos:exactMatch ICD10CM:E27.2 Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addisonian crisis LEXMATCH MONDO:0019803 angioma serpiginosum skos:exactMatch ICD10CM:L81.7 Pigmented purpuric dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angioma serpiginosum LEXMATCH MONDO:0019804 tracheomalacia skos:exactMatch ICD10CM:Q32.0 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tracheomalacia LEXMATCH MONDO:0019806 primary progressive aphasia skos:exactMatch ICD10CM:G31.01 Pick's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary progressive aphasia LEXMATCH -MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch ICD10CM:Q23.1 Congenital insufficiency of aortic valve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital insufficiency of aortic valve LEXMATCH MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch ICD10CM:Q23.1 Congenital insufficiency of aortic valve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital aortic insufficiency LEXMATCH +MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch ICD10CM:Q23.1 Congenital insufficiency of aortic valve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital insufficiency of aortic valve LEXMATCH MONDO:0019810 toxic epidermal necrolysis skos:exactMatch ICD10CM:L51.2 Toxic epidermal necrolysis [Lyell] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis LEXMATCH MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch ICD10CM:Q52.0 Congenital absence of vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital absence of vagina LEXMATCH MONDO:0019944 Eisenmenger syndrome skos:exactMatch ICD10CM:I27.83 Eisenmenger's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eisenmengers syndrome LEXMATCH @@ -1702,8 +1698,8 @@ MONDO:0020290 atrioventricular septal defect skos:exactMatch ICD10CM:Q21.2 Atrio MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch ICD10CM:C93.1 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelomonocytic leukemia LEXMATCH MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m2 LEXMATCH MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch ICD10CM:C85.2 Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch ICD10CM:C83.8 Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intravascular large b-cell lymphoma LEXMATCH MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch ICD10CM:C83.8 Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intravascular large b-cell lymphoma LEXMATCH +MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch ICD10CM:C83.8 Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intravascular large b-cell lymphoma LEXMATCH MONDO:0020326 lymphomatoid papulosis skos:exactMatch ICD10CM:C86.6 Primary cutaneous CD30-positive T-cell proliferations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphomatoid papulosis LEXMATCH MONDO:0020331 indolent systemic mastocytosis skos:exactMatch ICD10CM:D47.02 Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym indolent systemic mastocytosis LEXMATCH MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch ICD10CM:C96.21 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive systemic mastocytosis LEXMATCH @@ -1719,27 +1715,26 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch MONDO:0020481 myotonia fluctuans skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans LEXMATCH MONDO:0020482 myotonia permanens skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia permanens LEXMATCH MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch ICD10CM:A98.3 Marburg virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marburg virus disorder LEXMATCH +MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95 Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.0 Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sylvatic yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.0 Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jungle yellow fever LEXMATCH -MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95 Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.1 Urban yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urban yellow fever LEXMATCH -MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:C96.6 Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma LEXMATCH MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:C96.6 Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH +MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma LEXMATCH -MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.310 Long chain/very long chain acyl CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcad LEXMATCH MONDO:0020532 spirillary rat-bite fever skos:exactMatch ICD10CM:A25.0 Spirillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sodoku LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever LEXMATCH MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever LEXMATCH +MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever LEXMATCH MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptobacillary rat-bite fever LEXMATCH MONDO:0020546 acute graft versus host disease skos:exactMatch ICD10CM:D89.810 Acute graft-versus-host disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020547 chronic graft versus host disease skos:exactMatch ICD10CM:D89.811 Chronic graft-versus-host disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020549 invasive hydatidiform mole skos:exactMatch ICD10CM:D39.2 Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorioadenoma destruens LEXMATCH MONDO:0020549 invasive hydatidiform mole skos:exactMatch ICD10CM:D39.2 Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym invasive hydatidiform mole LEXMATCH +MONDO:0020549 invasive hydatidiform mole skos:exactMatch ICD10CM:D39.2 Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorioadenoma destruens LEXMATCH MONDO:0020549 invasive hydatidiform mole skos:exactMatch ICD10CM:D39.2 Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym invasive hydatidiform mole LEXMATCH MONDO:0020567 apnea of prematurity skos:exactMatch ICD10CM:P28.4 Other apnea of newborn semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apnea of prematurity LEXMATCH -MONDO:0020579 mucositis skos:exactMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucositis LEXMATCH MONDO:0020579 mucositis skos:exactMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucositis LEXMATCH +MONDO:0020579 mucositis skos:exactMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucositis LEXMATCH MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch ICD10CM:D68.4 Acquired coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired coagulation factor deficiency LEXMATCH MONDO:0020600 acute pharyngitis skos:exactMatch ICD10CM:J02 Acute pharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pharyngitis LEXMATCH MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch ICD10CM:A83 Mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosquito-borne viral encephalitis LEXMATCH @@ -1747,13 +1742,13 @@ MONDO:0020648 rubella encephalitis skos:exactMatch ICD10CM:B06.01 Rubella enceph MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch ICD10CM:M08.1 Juvenile ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile ankylosing spondylitis LEXMATCH MONDO:0020680 acute bronchiolitis skos:exactMatch ICD10CM:J21 Acute bronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bronchiolitis LEXMATCH MONDO:0020686 acute tonsillitis skos:exactMatch ICD10CM:J03 Acute tonsillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tonsillitis LEXMATCH -MONDO:0020696 vitamin B12 deficiency skos:exactMatch ICD10CM:E53.8 Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitamin b12 deficiency LEXMATCH MONDO:0020696 vitamin B12 deficiency skos:exactMatch ICD10CM:E53.8 Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12 deficiency LEXMATCH +MONDO:0020696 vitamin B12 deficiency skos:exactMatch ICD10CM:E53.8 Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitamin b12 deficiency LEXMATCH MONDO:0020732 progeria skos:exactMatch ICD10CM:E34.8 Other specified endocrine disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria LEXMATCH MONDO:0020782 chronic gingivitis skos:exactMatch ICD10CM:K05.1 Chronic gingivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic gingivitis LEXMATCH MONDO:0020806 sinoatrial block skos:exactMatch ICD10CM:I45.5 Other specified heart block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinoatrial block LEXMATCH -MONDO:0020815 dentigerous cyst skos:exactMatch ICD10CM:K09.0 Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentigerous cyst LEXMATCH MONDO:0020815 dentigerous cyst skos:exactMatch ICD10CM:K09.0 Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentigerous cyst LEXMATCH +MONDO:0020815 dentigerous cyst skos:exactMatch ICD10CM:K09.0 Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentigerous cyst LEXMATCH MONDO:0020830 diaphragmitis skos:exactMatch ICD10CM:J98.6 Disorders of diaphragm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphragmatitis LEXMATCH MONDO:0020863 laryngeal diphtheria skos:exactMatch ICD10CM:A36.2 Laryngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal diphtheria LEXMATCH MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch ICD10CM:A36.1 Nasopharyngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal diphtheria LEXMATCH @@ -1763,18 +1758,18 @@ MONDO:0021001 hemochromatosis type 1 skos:exactMatch ICD10CM:E83.11 Hemochromato MONDO:0021002 syndactyly skos:exactMatch ICD10CM:Q70 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly LEXMATCH MONDO:0021003 polydactyly skos:exactMatch ICD10CM:Q69 Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly LEXMATCH MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis LEXMATCH -MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.02 Neurofibromatosis, type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurofibromatosis LEXMATCH MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibromatosis LEXMATCH +MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.02 Neurofibromatosis, type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurofibromatosis LEXMATCH MONDO:0021063 malignant colon neoplasm skos:exactMatch ICD10CM:C18 Malignant neoplasm of colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of colon LEXMATCH MONDO:0021104 alcoholic fatty liver disease skos:exactMatch ICD10CM:K70.0 Alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic fatty liver LEXMATCH MONDO:0021107 narcolepsy skos:exactMatch ICD10CM:G47.41 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy LEXMATCH MONDO:0021112 scrotum cancer skos:exactMatch ICD10CM:C63.2 Malignant neoplasm of scrotum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of scrotum LEXMATCH -MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH +MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH MONDO:0021161 gonococcal prostatitis skos:exactMatch ICD10CM:A54.22 Gonococcal prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal prostatitis LEXMATCH MONDO:0021187 hyperlipidemia skos:exactMatch ICD10CM:E78.5 Hyperlipidemia, unspecified semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH +MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch ICD10CM:C75.0 Malignant neoplasm of parathyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parathyroid gland LEXMATCH MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch ICD10CM:C11 Malignant neoplasm of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasopharynx LEXMATCH MONDO:0021317 cancer of cerebellum skos:exactMatch ICD10CM:C71.6 Malignant neoplasm of cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cerebellum LEXMATCH @@ -1796,8 +1791,8 @@ MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch ICD10CM:D33.1 Benign MONDO:0021500 benign neoplasm of spleen skos:exactMatch ICD10CM:D13.9 Benign neoplasm of ill-defined sites within the digestive system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of spleen LEXMATCH MONDO:0021507 benign neoplasm of brain stem skos:exactMatch ICD10CM:D33.1 Benign neoplasm of brain, infratentorial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of brain stem LEXMATCH MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch ICD10CM:D35.0 Benign neoplasm of adrenal gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign neoplasm of adrenal gland LEXMATCH -MONDO:0021582 lentigo skos:exactMatch ICD10CM:L81.4 Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lentigo LEXMATCH MONDO:0021582 lentigo skos:exactMatch ICD10CM:L81.4 Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lentigo LEXMATCH +MONDO:0021582 lentigo skos:exactMatch ICD10CM:L81.4 Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lentigo LEXMATCH MONDO:0021722 vulvodynia skos:exactMatch ICD10CM:N94.81 Vulvodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvodynia LEXMATCH MONDO:0021750 pyonephrosis skos:exactMatch ICD10CM:N13.6 Pyonephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyonephrosis LEXMATCH MONDO:0021777 acute rheumatic heart disease skos:exactMatch ICD10CM:I01.8 Other acute rheumatic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute rheumatic heart disorder LEXMATCH @@ -1805,11 +1800,11 @@ MONDO:0021783 streptococcal sore throat skos:exactMatch ICD10CM:J02.0 Streptococ MONDO:0021783 streptococcal sore throat skos:exactMatch ICD10CM:J02.0 Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptococcal sore throat LEXMATCH MONDO:0021804 silicotuberculosis skos:exactMatch ICD10CM:J65 Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silicotuberculosis LEXMATCH MONDO:0021804 silicotuberculosis skos:exactMatch ICD10CM:J65 Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym silicotuberculosis LEXMATCH -MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortopulmonary window LEXMATCH MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortopulmonary septal defect LEXMATCH MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortopulmonary window LEXMATCH -MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH +MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortopulmonary window LEXMATCH MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH +MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH MONDO:0022096 pyogenic granuloma skos:exactMatch ICD10CM:L98.0 Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma LEXMATCH MONDO:0022103 chronic prostatitis skos:exactMatch ICD10CM:N41.1 Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis LEXMATCH MONDO:0022308 corticobasal degeneration disorder skos:exactMatch ICD10CM:G31.85 Corticobasal degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label corticobasal degeneration LEXMATCH @@ -1818,8 +1813,8 @@ MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch ICD10CM:P29. MONDO:0022792 coccygodynia skos:exactMatch ICD10CM:M53.3 Sacrococcygeal disorders, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coccygodynia LEXMATCH MONDO:0022968 dextrocardia with situs inversus skos:exactMatch ICD10CM:Q89.3 Situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dextrocardia with situs inversus LEXMATCH MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch ICD10CM:P27.0 Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome LEXMATCH -MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites LEXMATCH MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites LEXMATCH +MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites LEXMATCH MONDO:0023161 viral myocarditis skos:exactMatch ICD10CM:B33.22 Viral myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myocarditis LEXMATCH MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:I30.1 Infective pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral pericarditis LEXMATCH MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:B33.23 Viral pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral pericarditis LEXMATCH @@ -1835,33 +1830,33 @@ MONDO:0024229 miliaria crystallina skos:exactMatch ICD10CM:L74.1 Miliaria crysta MONDO:0024297 obsolete nutritional or metabolic disease skos:exactMatch ICD10CM:E00-E90 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024312 cancer of short bone of upper limb skos:exactMatch ICD10CM:C40.1 Malignant neoplasm of short bones of upper limb semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024327 chronic renal failure syndrome skos:exactMatch ICD10CM:N18.9 Chronic kidney disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic renal disorder LEXMATCH -MONDO:0024332 perennial allergic rhinitis skos:exactMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perennial allergic rhinitis LEXMATCH MONDO:0024332 perennial allergic rhinitis skos:exactMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perennial allergic rhinitis LEXMATCH +MONDO:0024332 perennial allergic rhinitis skos:exactMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perennial allergic rhinitis LEXMATCH MONDO:0024333 sciatica skos:exactMatch ICD10CM:M54.3 Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica LEXMATCH MONDO:0024335 retrobulbar neuritis skos:exactMatch ICD10CM:H46.1 Retrobulbar neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrobulbar neuritis LEXMATCH MONDO:0024349 pityriasis alba skos:exactMatch ICD10CM:L30.5 Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba LEXMATCH MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10CM:G47.2 Circadian rhythm sleep disorders semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch ICD10CM:D21 Other benign neoplasms of connective and other soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neoplasm of cartilage LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marseilles fever LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever LEXMATCH -MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever LEXMATCH MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis LEXMATCH +MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis LEXMATCH MONDO:0024608 dientamoebiasis skos:exactMatch ICD10CM:A07.8 Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal trichomoniasis LEXMATCH MONDO:0024614 neurotic depression skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression LEXMATCH MONDO:0024614 neurotic depression skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic depression LEXMATCH -MONDO:0024617 xanthogranuloma skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma LEXMATCH MONDO:0024617 xanthogranuloma skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthogranuloma LEXMATCH +MONDO:0024617 xanthogranuloma skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma LEXMATCH MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertensive nephropathy LEXMATCH MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertensive nephropathy LEXMATCH MONDO:0024636 inflammation of heart layer skos:exactMatch ICD10CM:I51.89 Other ill-defined heart diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carditis LEXMATCH -MONDO:0024643 myocardial disorder skos:exactMatch ICD10CM:I51.5 Myocardial degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myocardial disorder LEXMATCH MONDO:0024643 myocardial disorder skos:exactMatch ICD10CM:I51.5 Myocardial degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myocardial disorder LEXMATCH -MONDO:0024655 rheumatic pericarditis skos:exactMatch ICD10CM:I01.0 Acute rheumatic pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatic pericarditis LEXMATCH +MONDO:0024643 myocardial disorder skos:exactMatch ICD10CM:I51.5 Myocardial degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myocardial disorder LEXMATCH MONDO:0024655 rheumatic pericarditis skos:exactMatch ICD10CM:I01.0 Acute rheumatic pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatic pericarditis LEXMATCH +MONDO:0024655 rheumatic pericarditis skos:exactMatch ICD10CM:I01.0 Acute rheumatic pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatic pericarditis LEXMATCH MONDO:0025028 vesicular stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vesicular stomatitis LEXMATCH MONDO:0025303 anaplasmosis skos:exactMatch ICD10CM:A79.82 Anaplasmosis [A. phagocytophilum] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplasmosis LEXMATCH MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch ICD10CM:J16.0 Chlamydial pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chlamydial pneumonia LEXMATCH @@ -1876,14 +1871,14 @@ MONDO:0037738 cauda equina cancer skos:exactMatch ICD10CM:C72.1 Malignant neopla MONDO:0040653 autosomal recessive ocular albinism skos:exactMatch ICD10CM:E70.311 Autosomal recessive ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ocular albinism LEXMATCH MONDO:0040674 orgasm disorder skos:exactMatch ICD10CM:F52.3 Orgasmic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0040925 latent yaws skos:exactMatch ICD10CM:A66.8 Latent yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label latent yaws LEXMATCH -MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch ICD10CM:F41.8 Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed anxiety and depressive disorder LEXMATCH MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch ICD10CM:F41.8 Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed anxiety and depressive disorder LEXMATCH +MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch ICD10CM:F41.8 Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed anxiety and depressive disorder LEXMATCH MONDO:0041182 polymorphic light eruption skos:exactMatch ICD10CM:L56.4 Polymorphous light eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption LEXMATCH -MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diphtheritic myocarditis LEXMATCH MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis LEXMATCH +MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diphtheritic myocarditis LEXMATCH MONDO:0041366 acute epiglottitis skos:exactMatch ICD10CM:J05.1 Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis LEXMATCH -MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH +MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch ICD10CM:J15.21 Pneumonia due to staphylococcus aureus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to staphylococcus aureus LEXMATCH MONDO:0042233 disseminated candidiasis skos:exactMatch ICD10CM:B37.7 Candidal sepsis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated candidiasis LEXMATCH MONDO:0042233 disseminated candidiasis skos:exactMatch ICD10CM:B37.7 Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis LEXMATCH @@ -1897,8 +1892,8 @@ MONDO:0043230 ciguatera fish poisoning skos:exactMatch ICD10CM:T61.0 Ciguatera f MONDO:0043233 exfoliative dermatitis skos:exactMatch ICD10CM:L26 Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis LEXMATCH MONDO:0043237 glossodynia skos:exactMatch ICD10CM:K14.6 Glossodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossodynia LEXMATCH MONDO:0043240 hemophilic arthropathy skos:exactMatch ICD10CM:M36.2 Hemophilic arthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilic arthropathy LEXMATCH -MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch ICD10CM:K22.6 Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mallory-weiss syndrome LEXMATCH MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch ICD10CM:K22.6 Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mallory-weiss syndrome LEXMATCH +MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch ICD10CM:K22.6 Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mallory-weiss syndrome LEXMATCH MONDO:0043294 linear scleroderma skos:exactMatch ICD10CM:L94.1 Linear scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear scleroderma LEXMATCH MONDO:0043303 hyperacusis skos:exactMatch ICD10CM:H93.23 Hyperacusis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperacusis LEXMATCH MONDO:0043310 amaurosis fugax skos:exactMatch ICD10CM:G45.3 Amaurosis fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis fugax LEXMATCH @@ -1908,9 +1903,9 @@ MONDO:0043465 achlorhydria skos:exactMatch ICD10CM:K31.83 Achlorhydria semapv:Le MONDO:0043468 acne keloid skos:exactMatch ICD10CM:L73.0 Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid LEXMATCH MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch ICD10CM:E24.3 Ectopic ACTH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectopic acth syndrome LEXMATCH MONDO:0043475 Adams-Stokes syndrome skos:exactMatch ICD10CM:I45.9 Conduction disorder, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stokes-adams syndrome LEXMATCH -MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia LEXMATCH MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrainous neuralgia LEXMATCH MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym histamine cephalgia LEXMATCH +MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia LEXMATCH MONDO:0043541 viral conjunctivitis skos:exactMatch ICD10CM:B30 Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis LEXMATCH MONDO:0043683 Leriche syndrome skos:exactMatch ICD10CM:I74.09 Other arterial embolism and thrombosis of abdominal aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leriches syndrome LEXMATCH MONDO:0043693 alcoholic liver diseases skos:exactMatch ICD10CM:K70 Alcoholic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic liver disorder LEXMATCH @@ -1919,22 +1914,21 @@ MONDO:0043765 presbycusis skos:exactMatch ICD10CM:H91.1 Presbycusis semapv:Lexic MONDO:0043771 radiodermatitis skos:exactMatch ICD10CM:L58 Radiodermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiodermatitis LEXMATCH MONDO:0043775 respiratory paralysis skos:exactMatch ICD10CM:J98.6 Disorders of diaphragm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis of diaphragm LEXMATCH MONDO:0043777 rhinophyma skos:exactMatch ICD10CM:L71.1 Rhinophyma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinophyma LEXMATCH -MONDO:0043789 serum sickness skos:exactMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serum sickness LEXMATCH MONDO:0043789 serum sickness skos:exactMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym serum sickness LEXMATCH +MONDO:0043789 serum sickness skos:exactMatch ICD10CM:T80.6 Other serum reactions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serum sickness LEXMATCH MONDO:0043875 tumor lysis syndrome skos:exactMatch ICD10CM:E88.3 Tumor lysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor lysis syndrome LEXMATCH MONDO:0043878 hereditary optic atrophy skos:exactMatch ICD10CM:H47.22 Hereditary optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary optic atrophy LEXMATCH MONDO:0043919 radiation pneumonitis skos:exactMatch ICD10CM:J70.0 Acute pulmonary manifestations due to radiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radiation pneumonitis LEXMATCH MONDO:0043919 radiation pneumonitis skos:exactMatch ICD10CM:J70.0 Acute pulmonary manifestations due to radiation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radiation pneumonitis LEXMATCH MONDO:0043975 autonomic dysreflexia skos:exactMatch ICD10CM:G90.4 Autonomic dysreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autonomic dysreflexia LEXMATCH MONDO:0043994 acute cholecystitis skos:exactMatch ICD10CM:K81.0 Acute cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cholecystitis LEXMATCH -MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch ICD10CM:I67.83 Posterior reversible encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pres LEXMATCH MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch ICD10CM:I67.83 Posterior reversible encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior reversible encephalopathy syndrome LEXMATCH -MONDO:0044144 panic disorder with agoraphobia skos:exactMatch ICD10CM:F40.01 Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panic disorder with agoraphobia LEXMATCH MONDO:0044144 panic disorder with agoraphobia skos:exactMatch ICD10CM:F40.01 Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panic disorder with agoraphobia LEXMATCH +MONDO:0044144 panic disorder with agoraphobia skos:exactMatch ICD10CM:F40.01 Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panic disorder with agoraphobia LEXMATCH MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch ICD10CM:C81.0 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma LEXMATCH MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic familial dystonia LEXMATCH -MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis LEXMATCH MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis LEXMATCH +MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis LEXMATCH MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis LEXMATCH MONDO:0044983 benign lipomatous neoplasm skos:exactMatch ICD10CM:D17 Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm LEXMATCH MONDO:0045044 ligament disorder skos:exactMatch ICD10CM:M24.2 Disorder of ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ligament LEXMATCH @@ -1945,17 +1939,14 @@ MONDO:0100051 idiopathic mast cell activation syndrome skos:exactMatch ICD10CM:D MONDO:0100076 juvenile idiopathic scoliosis skos:exactMatch ICD10CM:M41.11 Juvenile idiopathic scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic scoliosis LEXMATCH MONDO:0100115 acute flaccid myelitis skos:exactMatch ICD10CM:G04.82 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis LEXMATCH MONDO:0100135 Dravet syndrome skos:exactMatch ICD10CM:G40.83 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome LEXMATCH -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pims LEXMATCH -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric inflammatory multisystem syndrome LEXMATCH MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multisystem inflammatory syndrome in children LEXMATCH -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mis-c LEXMATCH -MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch ICD10CM:D89.3 Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune reconstitution syndrome LEXMATCH +MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric inflammatory multisystem syndrome LEXMATCH MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch ICD10CM:D89.3 Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune reconstitution inflammatory syndrome LEXMATCH +MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch ICD10CM:D89.3 Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune reconstitution syndrome LEXMATCH MONDO:0100190 gastric intestinal metaplasia skos:exactMatch ICD10CM:K31.A Gastric intestinal metaplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric intestinal metaplasia LEXMATCH MONDO:0100193 chronic liver failure skos:exactMatch ICD10CM:K72.1 Chronic hepatic failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym end stage liver disorder LEXMATCH MONDO:0100241 inherited thrombocytopenia skos:exactMatch ICD10CM:D69.42 Congenital and hereditary thrombocytopenia purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombocytopenia LEXMATCH MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch ICD10CM:D59.5 Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal nocturnal hemoglobinuria LEXMATCH -MONDO:0100319 COVID-19–associated multisystem inflammatory syndrome in adults skos:exactMatch ICD10CM:M35.81 Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mis-a LEXMATCH MONDO:0100339 Friedreich ataxia skos:exactMatch ICD10CM:G11.11 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia LEXMATCH MONDO:0100345 lactose intolerance skos:exactMatch ICD10CM:E73 Lactose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactose intolerance LEXMATCH MONDO:0100370 acute hepatitis B virus infection skos:exactMatch ICD10CM:B16 Acute hepatitis B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatitis b LEXMATCH @@ -1967,8 +1958,8 @@ MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch ICD10CM:E75.24 Ni MONDO:0100471 vitamin D deficiency skos:exactMatch ICD10CM:E55.9 Vitamin D deficiency, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym avitaminosis d LEXMATCH MONDO:0400003 skeletal fluorosis skos:exactMatch ICD10CM:M85.1 Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis LEXMATCH MONDO:0400006 botryomycosis skos:exactMatch ICD10CM:L08.81 Pyoderma vegetans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyoderma vegetans LEXMATCH -MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic angioedema with eosinophilia LEXMATCH MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gleichs syndrome LEXMATCH +MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic angioedema with eosinophilia LEXMATCH MONDO:0600008 cytokine release syndrome skos:exactMatch ICD10CM:D89.83 Cytokine release syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytokine release syndrome LEXMATCH MONDO:0600025 hydrosalpinx skos:exactMatch ICD10CM:N70.1 Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrosalpinx LEXMATCH MONDO:0700051 liver abscess (disease) skos:exactMatch ICD10CM:K75.0 Abscess of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abscess of liver LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index 6bcc49ac..ca0c0b1b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -57,8 +57,8 @@ MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Di MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch NCIT:C53684 Benign Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000665 apraxia skos:exactMatch NCIT:C180557 Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia LEXMATCH MONDO:0000685 visual agnosia skos:exactMatch NCIT:C35276 Visual Agnosia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection LEXMATCH +MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000709 Crohn ileitis skos:exactMatch NCIT:C35329 Crohn Ileitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000723 stutter disorder skos:exactMatch NCIT:C35043 Stutter semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria LEXMATCH @@ -108,8 +108,8 @@ MONDO:0001128 nasal cavity cancer skos:exactMatch NCIT:C4918 Malignant Nasal Cav MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant essential hypertension LEXMATCH MONDO:0001162 impulse control disorder skos:exactMatch NCIT:C34723 Impulse-Control Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue disorder LEXMATCH -MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C126462 Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess LEXMATCH +MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis LEXMATCH MONDO:0001187 urinary bladder cancer skos:exactMatch NCIT:C9334 Malignant Bladder Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001188 esophagus lymphoma skos:exactMatch NCIT:C5687 Esophageal Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001192 esophageal melanoma skos:exactMatch NCIT:C5707 Esophageal Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -161,8 +161,8 @@ MONDO:0001536 vaginal leiomyoma skos:exactMatch NCIT:C6373 Vaginal Leiomyoma sem MONDO:0001540 bagassosis skos:exactMatch NCIT:C34409 Bagassosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001558 Potter sequence skos:exactMatch NCIT:C40435 Potter Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch NCIT:C3354 Respiratory Syncytial Virus Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH +MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001621 tick-borne relapsing fever skos:exactMatch NCIT:C34976 Tick-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001635 bladder squamous papilloma skos:exactMatch NCIT:C39834 Bladder Squamous Cell Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -221,8 +221,8 @@ MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch NCIT:C36090 MONDO:0002063 breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002064 breast angiomatosis skos:exactMatch NCIT:C40381 Breast Angiomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002071 supratentorial cancer skos:exactMatch NCIT:C4964 Malignant Supratentorial Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C6767 Malignant Pineal Region Germ Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch NCIT:C35225 Arthropathy in Behcet's Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002078 heart septal defect skos:exactMatch NCIT:C84482 Congenital Septal Defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002083 Richter syndrome skos:exactMatch NCIT:C35424 Richter Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -253,8 +253,8 @@ MONDO:0002165 rectal neoplasm skos:exactMatch NCIT:C3350 Rectal Neoplasm semapv: MONDO:0002166 rectum lymphoma skos:exactMatch NCIT:C5553 Rectal Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002167 rectum malignant melanoma skos:exactMatch NCIT:C4640 Rectal Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002168 rectum sarcoma skos:exactMatch NCIT:C5548 Rectal Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C3055 Giant Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm LEXMATCH +MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C3055 Giant Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002178 placenta cancer skos:exactMatch NCIT:C3555 Malignant Placental Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002181 exostosis skos:exactMatch NCIT:C139151 Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte LEXMATCH MONDO:0002194 vestibular papilloma skos:exactMatch NCIT:C6376 Vulvar Squamous Cell Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -444,8 +444,8 @@ MONDO:0002913 cerebellar neoplasm skos:exactMatch NCIT:C2935 Cerebellar Neoplasm MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002924 smooth muscle cancer skos:exactMatch NCIT:C6511 Malignant Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002926 clear cell sarcoma skos:exactMatch NCIT:C3745 Clear Cell Sarcoma of Soft Tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor LEXMATCH MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor LEXMATCH MONDO:0002935 penis basal cell carcinoma skos:exactMatch NCIT:C39961 Penile Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch NCIT:C6386 Scrotal Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -611,8 +611,8 @@ MONDO:0003522 male orgasm disorder skos:exactMatch NCIT:C34959 Male Orgasmic Dis MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C9069 Pancreatic Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma LEXMATCH MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27254 Papillary Eccrine Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma LEXMATCH MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch NCIT:C27937 Thymic Low Grade Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C9142 Adult T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1015,8 +1015,8 @@ MONDO:0004519 synovial angioma skos:exactMatch NCIT:C6525 Synovial Hemangioma se MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C7325 Intratubular Non-Seminoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm LEXMATCH MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm LEXMATCH MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch NCIT:C6584 Palisaded Lymph Node Myofibroblastoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch NCIT:C36096 Early Invasive Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004531 sclerosing adenosis of breast skos:exactMatch NCIT:C5205 Breast Sclerosing Adenosis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1077,8 +1077,8 @@ MONDO:0004712 herpes simplex dermatitis skos:exactMatch NCIT:C35620 Herpes Simpl MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C7788 Stage 0 Gastric Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C3528 Malignant Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004720 variola minor infection skos:exactMatch NCIT:C34365 Alastrim semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C8396 Submandibular Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C4853 Stage 0 Rectal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004733 pyriform sinus cancer skos:exactMatch NCIT:C3531 Malignant Pyriform Fossa Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1088,8 +1088,8 @@ MONDO:0004752 neurofibroma of the heart skos:exactMatch NCIT:C5359 Cardiac Neuro MONDO:0004754 rectal prolapse skos:exactMatch NCIT:C34973 Rectal Prolapse semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004756 nasal cavity neoplasm skos:exactMatch NCIT:C4413 Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004788 cervix squamous papilloma skos:exactMatch NCIT:C6342 Cervical Squamous Cell Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa LEXMATCH MONDO:0004795 otitis externa skos:exactMatch NCIT:C3299 Infectious Otitis Externa semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa LEXMATCH MONDO:0004796 infectious meningitis skos:exactMatch NCIT:C79598 Infectious Meningitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch NCIT:C7765 Osteosclerotic Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch NCIT:C4734 Non-Secretory Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1162,6 +1162,7 @@ MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch NCIT:C7355 Renal MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch NCIT:C7149 Smoldering Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005236 xanthoma skos:exactMatch NCIT:C4071 Xanthoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005266 diabetic retinopathy skos:exactMatch NCIT:C34538 Diabetic Retinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia LEXMATCH MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C82591 Myelodysplastic Syndrome with Single Lineage Dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005283 retinal disorder skos:exactMatch NCIT:C62601 Retinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal disorder LEXMATCH @@ -1455,8 +1456,8 @@ MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch NCIT:C5933 Par MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5974 Parotid Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch NCIT:C5942 Parotid Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006361 penile fibromatosis skos:exactMatch NCIT:C3316 Penile Fibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C6536 Peritoneal Multicystic Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma LEXMATCH +MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C6536 Peritoneal Multicystic Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch NCIT:C45661 Peritoneal Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch NCIT:C4733 Peutz-Jeghers Polyp semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch NCIT:C36205 Peutz-Jeghers Polyp of the Stomach semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1529,8 +1530,8 @@ MONDO:0006482 ureter small cell carcinoma skos:exactMatch NCIT:C6176 Ureter Smal MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch NCIT:C27941 Breast Usual Ductal Hyperplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch NCIT:C40261 Vaginal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006488 vaginal carcinosarcoma skos:exactMatch NCIT:C40278 Vaginal Carcinosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma LEXMATCH +MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006491 vulvar lichen sclerosus skos:exactMatch NCIT:C27723 Vulvar Lichen Sclerosus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006493 Warthin tumor skos:exactMatch NCIT:C2854 Warthin Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006497 cerebral palsy skos:exactMatch NCIT:C34460 Cerebral Palsy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1599,8 +1600,8 @@ MONDO:0006941 rat-bite fever skos:exactMatch NCIT:C34971 Rat-Bite Fever semapv:U MONDO:0006948 retinal artery occlusion skos:exactMatch NCIT:C34978 Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006956 Rickettsiosis skos:exactMatch NCIT:C34991 Rickettsiosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006966 secondary Parkinson disease skos:exactMatch NCIT:C34899 Secondary Parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis LEXMATCH MONDO:0006969 sialadenitis skos:exactMatch NCIT:C115165 Sialitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis LEXMATCH MONDO:0006973 skin appendage carcinoma skos:exactMatch NCIT:C3775 Adnexal Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006975 smooth muscle tumor skos:exactMatch NCIT:C3751 Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006976 somatostatinoma skos:exactMatch NCIT:C3379 Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1633,11 +1634,11 @@ MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch NCIT:C142892 Familia MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch NCIT:C133725 Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007276 cat-eye syndrome skos:exactMatch NCIT:C75477 Cat-Eye Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 LEXMATCH MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 LEXMATCH MONDO:0007340 cleidocranial dysplasia skos:exactMatch NCIT:C75020 Cleidocranial Dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007345 aorta coarctation skos:exactMatch NCIT:C84567 Aortic Coarctation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome LEXMATCH MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone-rod dystrophy type 2 LEXMATCH MONDO:0007416 Balkan nephropathy skos:exactMatch NCIT:C123025 Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1795,8 +1796,8 @@ MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency LEXMATCH MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch NCIT:C131075 Vitamin D Dependent Rickets 2a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency LEXMATCH -MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome LEXMATCH +MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome LEXMATCH MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type LEXMATCH MONDO:0010281 Danon disease skos:exactMatch NCIT:C84735 Glycogen Storage Disease Type IIb semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1893,13 +1894,13 @@ MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 LEXMATCH MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch NCIT:C62590 Idiopathic Pneumonia Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis LEXMATCH +MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NCIT:C35480 Aseptic Necrosis of Femoral Head semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 LEXMATCH MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 LEXMATCH MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012249 colorectal cancer, hereditary nonpolyposis, type 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome LEXMATCH MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 LEXMATCH MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 3 LEXMATCH MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98863 Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2167,7 +2168,6 @@ MONDO:0018034 thalidomide embryopathy skos:exactMatch NCIT:C99082 Thalidomide Em MONDO:0018058 tracheal agenesis skos:exactMatch NCIT:C35376 Tracheal Agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C101223 Complete Trisomy 13 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C101362 Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:exactMatch NCIT:C69122 Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten LEXMATCH MONDO:0018087 viral hemorrhagic fever skos:exactMatch NCIT:C36170 Viral Hemorrhagic Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018100 familial primary hypomagnesemia skos:exactMatch NCIT:C123263 Familial Primary Hypomagnesemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch NCIT:C45327 Hydroa Vacciniforme-Like Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2175,8 +2175,8 @@ MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch NCIT:C5751 Liver Mesen MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch NCIT:C43558 Appendix Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch NCIT:C40026 Malignant Ovarian Epithelial Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C8111 Immature Ovarian Teratoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma LEXMATCH +MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C8111 Immature Ovarian Teratoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C34841 Avascular Necrosis of Bone semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018378 osteonecrosis of the jaw skos:exactMatch NCIT:C63924 Osteonecrosis of Jaw semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disorder-associated renal cell carcinoma LEXMATCH @@ -2240,8 +2240,8 @@ MONDO:0019175 primary lymphedema skos:exactMatch NCIT:C48829 Primary Lymphedema MONDO:0019186 Q fever skos:exactMatch NCIT:C34970 Q Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019194 localized lipodystrophy skos:exactMatch NCIT:C131814 Focal Lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019207 DEND syndrome skos:exactMatch NCIT:C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder LEXMATCH MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder LEXMATCH MONDO:0019266 SAPHO syndrome skos:exactMatch NCIT:C119049 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin pigmentation disorder LEXMATCH MONDO:0019293 skin vascular disease skos:exactMatch NCIT:C35254 Skin Vascular Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2282,7 +2282,6 @@ MONDO:0019796 acrocephalosyndactyly skos:exactMatch NCIT:C34348 Acrocephalosynda MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch NCIT:C113824 Twin-Twin Transfusion Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019808 aortic valve atresia skos:exactMatch NCIT:C98818 Aortic Valve Atresia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch NCIT:C103936 Congenital Aortic Valve Insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NCIT:C69122 Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten LEXMATCH MONDO:0019903 ring chromosome 2 skos:exactMatch NCIT:C121981 ROSE Cluster 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019904 ring chromosome 3 skos:exactMatch NCIT:C121982 ROSE Cluster 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch NCIT:C7911 Growth Hormone-Producing Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2974,8 +2973,8 @@ MONDO:0044768 vagus nerve paraganglioma skos:exactMatch NCIT:C8427 Vagal Paragan MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044784 myxoma skos:exactMatch NCIT:C6577 Myxoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044788 perihilar intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C96804 Large Duct Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Giant Congenital Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C3944 Congenital Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Giant Congenital Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044794 benign melanocytic skin nevus skos:exactMatch NCIT:C7571 Benign Skin Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044795 epithelioid cell nevus skos:exactMatch NCIT:C66757 Epithelioid Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044796 spindle cell nevus skos:exactMatch NCIT:C66758 Spindle Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3158,8 +3157,8 @@ MONDO:0700198 porcine lymphoma skos:exactMatch NCIT:C134786 Porcine Lymphoma sem MONDO:0700199 sheep lung adenocarcinoma skos:exactMatch NCIT:C147532 Sheep Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis LEXMATCH MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label group b streptococcal infection LEXMATCH -MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges LEXMATCH +MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy LEXMATCH MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch NCIT:C98889 Congenital Central Hypoventilation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 4a153835..2cb3509f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,9 +1,13 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006292 malignant mesothelioma skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006486 uveal melanoma skos:exactMatch OMIM:155720 melanoma, uveal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch OMIM:102800 adenosine triphosphatase deficiency, anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch OMIM:104200 alport syndrome 3, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -19,8 +23,11 @@ MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120 MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch OMIM:120450 comedones, familial dyskeratotic semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch OMIM:121390 cornea guttata with anterior polar cataracts semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch OMIM:122200 corneal dystrophy, lattice iia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007391 coxa vara skos:exactMatch OMIM:122750 coxa vara semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch OMIM:124400 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007423 deafness, mid-tone neural skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007444 dermal Ridges, patternless skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -28,12 +35,14 @@ MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch OMIM:12 MONDO:0007464 obsolete isolated distichiasis skos:exactMatch OMIM:126300 distichiasis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007533 elliptocytosis 2 skos:exactMatch OMIM:130600 elliptocytosis 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:614562 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:609943 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:614562 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007629 fragile site 10Q23 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -47,19 +56,22 @@ MONDO:0007788 hypertriglyceridemia, familial skos:exactMatch OMIM:145750 hypertr MONDO:0007789 hypertrophia musculorum vera skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant LEXMATCH +MONDO:0007802 hypospadias 3, autosomal skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:146840 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007847 keloid formation skos:exactMatch OMIM:148100 keloid formation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007851 keratoconus 1 skos:exactMatch OMIM:148300 keratoconus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007903 Li-Fraumeni syndrome 1 skos:exactMatch OMIM:609266 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007952 maxillofacial dysostosis skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch OMIM:156400 metaphyseal chondrodysplasia, jansen iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch OMIM:156500 metaphyseal chondrodysplasia, schmid iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007985 metatarsus varus, type 1 skos:exactMatch OMIM:156520 metatarsus varus, iia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008001 milia, multiple eruptive skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch OMIM:158310 mucoepithelial dysplasia, hereditary semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008022 muscle cramps, familial skos:exactMatch OMIM:158400 muscle cramps, familial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -69,12 +81,15 @@ MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch OMIM:160300 myop MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008065 nasal groove, familial transverse skos:exactMatch OMIM:161500 nasal groove, familial transverse semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008076 amyotrophic neuralgia skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch OMIM:164150 nystagmus, hereditary vertical semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008164 otosclerosis 1 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008176 Paget disease of bone 3 skos:exactMatch OMIM:167250 paget disease of bone 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch OMIM:169000 patella, familial recurrent dislocation of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch OMIM:169545 pelvic lipomatosis with crossed renal ectopia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -82,20 +97,27 @@ MONDO:0008248 pigmented purpuric eruption skos:exactMatch OMIM:172900 pigmented MONDO:0008265 polycystic liver disease 1 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch OMIM:175510 gist-plus syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:607595 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008330 pseudomonilethrix skos:exactMatch OMIM:177750 pseudomonilethrix semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008342 pubic bone dysplasia skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch OMIM:179200 radial heads, posterior dislocation of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch OMIM:180950 salivary substance, clostridium botulinum iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:exactMatch OMIM:181430 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008448 spheroid body myopathy skos:exactMatch OMIM:182920 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:277610 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008494 cryohydrocytosis skos:exactMatch OMIM:185020 cryohydrocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008500 striae distensae, familial skos:exactMatch OMIM:185200 striae distensae, familial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008523 Blau syndrome skos:exactMatch OMIM:609464 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008528 tear protein, anodal skos:exactMatch OMIM:186890 tear protein, anodal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch OMIM:188800 tibial torsion, bilateral medial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch OMIM:189700 torus palatinus and torus mandibularis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch OMIM:190600 triphalangeal thumb, nonopposable semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -103,11 +125,16 @@ MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM: MONDO:0008626 ureter, bifid or double skos:exactMatch OMIM:191550 ureter, bifid or double semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008630 urinary bladder, atony of skos:exactMatch OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch OMIM:192900 vertebral hypoplasia with lumbar kyphosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch OMIM:193000 vesicoureteral reflux 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008680 Wilms tumor 2 skos:exactMatch OMIM:194071 wilms tumor 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008683 Wilms tumor 3 skos:exactMatch OMIM:194090 wilms tumor 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008701 achondrogenesis type IA skos:exactMatch OMIM:200600 achondrogenesis, iia 1a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:245130 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008791 anencephaly 1 skos:exactMatch OMIM:206500 anencephaly 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -119,8 +146,13 @@ MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch OMIM:21300 MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch OMIM:216820 coloboma, ocular, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009194 immunodeficiency 32B skos:exactMatch OMIM:614894 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -136,24 +168,30 @@ MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch OMIM:241510 hy MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch OMIM:241800 pallister-hall-like syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009500 kuru, susceptibility to skos:exactMatch OMIM:245300 kuru, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch OMIM:250400 metaphyseal dysplasia, spahr iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch OMIM:251100 methylmalonic aciduria, cbla iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch OMIM:251110 methylmalonic aciduria, cblb iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch OMIM:251800 microtia with meatal atresia and conductive deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 mucopolysaccharidoses, unclassified types semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch OMIM:253900 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009686 musk, inability to smell skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 nephrotic syndrome, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch OMIM:257600 ocular myopathy with curare sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch OMIM:258360 onychotrichodysplasia and neutropenia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch OMIM:258400 ophthalmoplegia totalis with ptosis and miosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch OMIM:258700 opticocochleodentate degeneration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch OMIM:263450 polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009944 pyloric atresia skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -164,6 +202,7 @@ MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch OMIM:270600 spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010097 Tatsumi factor deficiency skos:exactMatch OMIM:272650 tatsumi factor deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch OMIM:275250 tongue, pigmented fungiform papillae of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch OMIM:275370 tricarboxylic acid cycle, defect of semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -174,6 +213,7 @@ MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch OMIM:27772 MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis skos:exactMatch OMIM:278100 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010244 CGF1 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010258 MEHMO syndrome skos:exactMatch OMIM:300987 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -181,19 +221,30 @@ MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch OMIM:300228 testicula MONDO:0010290 goiter, multinodular 2 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch OMIM:300301 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010297 FG syndrome 2 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010316 FG syndrome 3 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch OMIM:300220 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:exactMatch OMIM:300494 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 skos:exactMatch OMIM:300497 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch OMIM:300498 intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch OMIM:300509 dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010350 premature ovarian failure 2A skos:exactMatch OMIM:300511 premature ovarian failure 2a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010366 FG syndrome 5 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia skos:exactMatch OMIM:300584 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010373 premature ovarian failure 2B skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010377 myopia 13, X-linked skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010384 hypospadias 1, X-linked skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch OMIM:300652 angioma serpiginosum, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -201,12 +252,17 @@ MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch OMIM:30070 MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch OMIM:300710 alopecia, androgenetic, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010423 hypospadias 2, X-linked skos:exactMatch OMIM:300758 hypospadias 2, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch OMIM:300815 chromosome xq28 duplication syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch OMIM:300834 macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch OMIM:300852 intellectual developmental disorder, X-linked 88 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -238,17 +294,25 @@ MONDO:0010791 myoglobinuria, recurrent skos:exactMatch OMIM:550500 myoglobinuria MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch OMIM:551200 nephropathy, chronic tubulointerstitial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch OMIM:556500 parkinson disease, mitochondrial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 hirschsprung disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010846 exostoses, multiple, type III skos:exactMatch OMIM:600209 exostoses, multiple, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010859 atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch OMIM:600593 craniosynostosis, adelaide iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch OMIM:600634 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010920 microtia skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:614696 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010929 craniosynostosis 4 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:614696 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010957 agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations skos:exactMatch OMIM:600908 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010966 achondrogenesis type IB skos:exactMatch OMIM:600972 achondrogenesis, iia 1b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:exactMatch OMIM:600996 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch OMIM:601086 laterality defects, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch OMIM:601101 telangiectasia, hereditary hemorrhagic, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch OMIM:601356 lethal short-limb skeletal dysplasia, al gazali iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -258,21 +322,31 @@ MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch OM MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch OMIM:601775 megaloblastic anemia, folate-responsive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:601780 ceroid lipofuscinosis, neuronal, 6a semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch OMIM:601812 premature aging syndrome, penttinen iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011173 thrombocythemia 2 skos:exactMatch OMIM:601977 thrombocythemia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011180 broad terminal phalanges, familial skos:exactMatch OMIM:602071 broad terminal phalanges, familial semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch OMIM:602080 paget disease of bone 2, early-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch OMIM:602085 polydactyly, postaxial, iia a2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch OMIM:602200 ventriculomegaly with defects of the radius and kidney semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 xanthomatosis, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch OMIM:603221 myopia 3, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011346 xanthinuria type II skos:exactMatch OMIM:603592 xanthinuria, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch OMIM:607569 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011370 Stargardt disease 4 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011381 dominant beta-thalassemia skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch OMIM:611155 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011481 craniosynostosis 2 skos:exactMatch OMIM:604757 craniosynostosis 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011493 Stickler syndrome type 2 skos:exactMatch OMIM:604841 stickler syndrome, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -289,6 +363,7 @@ MONDO:0011635 goiter, multinodular 3 skos:exactMatch OMIM:606082 goiter, multino MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch OMIM:606325 heterotaxy, visceral, 3, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch OMIM:606483 charcot-marie-tooth disease, axonal, iia 2gg semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch OMIM:606616 dyslexia, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch OMIM:606631 camurati-engelmann disease, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -300,19 +375,27 @@ MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:60 MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011800 glioma susceptibility 4 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011806 osteofibrous dysplasia skos:exactMatch OMIM:609143 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:613832 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 leprosy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch OMIM:271550 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -321,34 +404,46 @@ MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatc MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch OMIM:608049 autism, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch OMIM:608088 neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch OMIM:608158 coq-responsive oxphos deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011999 otosclerosis 3 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012017 Parkes Weber syndrome skos:exactMatch OMIM:608355 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 hirschsprung disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch OMIM:608471 corneal dystrophy, lattice iia 3a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch OMIM:608474 myopia 5, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch OMIM:608526 periodontitis, aggressive, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch OMIM:608556 legionnaire disease, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012068 brachial palsy, familial congenital skos:exactMatch OMIM:608585 brachial palsy, familial congenital semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012069 keratoconus 3 skos:exactMatch OMIM:608586 keratoconus 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch OMIM:608615 oligodontia-colorectal cancer syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch OMIM:608765 scoliosis, isolated, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012121 otosclerosis 5 skos:exactMatch OMIM:608787 otosclerosis 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch OMIM:608831 restless legs syndrome, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch OMIM:608895 macular degeneration, age-related, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012154 myopia 6 skos:exactMatch OMIM:608908 myopia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012158 keratoconus 2 skos:exactMatch OMIM:608932 keratoconus 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 atrial fibrillation, familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012174 peripheral cone dystrophy skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012179 narcolepsy 3 skos:exactMatch OMIM:609039 narcolepsy 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, iia a4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -361,16 +456,20 @@ MONDO:0012229 myopia 9 skos:exactMatch OMIM:609258 myopia 9 semapv:UnspecifiedMa MONDO:0012230 myopia 10 skos:exactMatch OMIM:609259 myopia 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012236 keratoconus 4 skos:exactMatch OMIM:609271 keratoconus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012239 nemaline myopathy 1 skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:609307 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012279 congenital muscular dystrophy merosin-positive skos:exactMatch OMIM:609456 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012282 Al-Gazali syndrome skos:exactMatch OMIM:609465 al-gazali syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch OMIM:609470 left ventricular noncompaction 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch OMIM:609500 myopathy, autophagic vacuolar, infantile-onset semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012302 parietal foramina 3 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012337 glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -380,6 +479,7 @@ MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch MONDO:0012365 gallbladder disease 2 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012366 gallbladder disease 3 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch OMIM:609994 myopia 11, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch OMIM:609995 myopia 12, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -387,29 +487,43 @@ MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch MONDO:0012406 hyperparathyroidism 3 skos:exactMatch OMIM:610071 hyperparathyroidism 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch OMIM:610140 heart-hand syndrome, slovenian iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012428 kyphoscoliosis 1 skos:exactMatch OMIM:610170 kyphoscoliosis 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch OMIM:610187 diaphragmatic hernia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012469 myopia 14 skos:exactMatch OMIM:610320 myopia 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch OMIM:610438 restless legs syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch OMIM:610439 restless legs syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012494 testicular microlithiasis skos:exactMatch OMIM:610441 testicular microlithiasis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012500 chilblain lupus 1 skos:exactMatch OMIM:610448 chilblain lupus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch OMIM:610535 glaucoma 1, open angle, m semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch OMIM:610676 autism, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 split-hand/foot malformation with long bone deficiency 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 nephrotic syndrome, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012550 iris pattern skos:exactMatch OMIM:610744 iris pattern semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012551 alopecia areata 2 skos:exactMatch OMIM:610753 alopecia areata 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch OMIM:610836 autism, susceptibility to, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch OMIM:610838 autism, susceptibility to, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch OMIM:610878 vesicoureteral reflux 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch OMIM:611014 hypertension, essential, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch OMIM:611015 autism, susceptibility to, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch OMIM:611016 autism, susceptibility to, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012604 isolated microphthalmia 3 skos:exactMatch OMIM:611038 microphthalmia, syndromic 16 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012606 mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 prostate cancer, hereditary, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch OMIM:611139 coronary heart disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -419,14 +533,20 @@ MONDO:0012646 glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012663 Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012696 otosclerosis 4 skos:exactMatch OMIM:611571 otosclerosis 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012697 otosclerosis 7 skos:exactMatch OMIM:611572 otosclerosis 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 microphthalmia, isolated, with coloboma 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 hirschsprung disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch OMIM:611694 dystonia with cerebellar atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch OMIM:611706 migraine with or without aura, susceptibility to, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch OMIM:611890 congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 aortic aneurysm, familial abdominal, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012755 episodic ataxia type 7 skos:exactMatch OMIM:611907 episodic ataxia, iia 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch OMIM:611929 camptodactyly syndrome, guadalajara, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012765 lymphatic malformation 2 skos:exactMatch OMIM:611944 lymphatic malformation 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 prostate cancer, hereditary, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -438,37 +558,57 @@ MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch OMIM: MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch OMIM:612089 hypophosphatemic rickets and hyperparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012797 otosclerosis 8 skos:exactMatch OMIM:612096 otosclerosis 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch OMIM:612100 autism, susceptibility to, 15 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch OMIM:612160 histiocytoma, angiomatoid fibrous semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch OMIM:612238 scoliosis, isolated, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch OMIM:612239 scoliosis, isolated, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:233500 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012878 Cowden syndrome 2 skos:exactMatch OMIM:612359 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 pontocerebellar hypoplasia, iia 2b semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 pontocerebellar hypoplasia, iia 2c semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 narcolepsy 4, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch OMIM:612421 alopecia, androgenetic, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012917 specific language impairment 4 skos:exactMatch OMIM:612514 specific language impairment 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch OMIM:612526 lipodystrophy, congenital generalized, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch OMIM:612554 myopia 16, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch OMIM:612593 lung cancer susceptibility 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch OMIM:612594 multiple sclerosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch OMIM:612596 multiple sclerosis, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012982 episodic ataxia type 6 skos:exactMatch OMIM:612656 episodic ataxia, iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch OMIM:612717 myopia 15, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012998 faciocardiomelic syndrome skos:exactMatch OMIM:612731 faciocardiomelic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 narcolepsy 5, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch OMIM:612853 restless legs syndrome, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013039 3M syndrome 2 skos:exactMatch OMIM:612921 three m syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 neuroblastoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 neuroblastoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 neuroblastoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 follicular lymphoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013092 glioma susceptibility 2 skos:exactMatch OMIM:613028 glioma susceptibility 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013093 glioma susceptibility 3 skos:exactMatch OMIM:613029 glioma susceptibility 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013094 glioma susceptibility 5 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013095 glioma susceptibility 6 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013096 glioma susceptibility 7 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -480,105 +620,290 @@ MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch OMIM:61 MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch OMIM:613062 basal cell carcinoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch OMIM:613063 basal cell carcinoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch OMIM:613070 liver failure, infantile, transient semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch OMIM:613085 glaucoma 3, primary congenital, c semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch OMIM:613100 glaucoma 1, open angle, o semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch OMIM:613106 vertigo, benign recurrent, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch OMIM:613118 antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch OMIM:613195 weill-marchesani syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch OMIM:613225 factor xiii, a subunit, deficiency of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013214 bile acid malabsorption, primary skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 hypokalemic periodic paralysis, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch OMIM:613387 fatty liver disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 leprosy, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch OMIM:613412 esophagitis, eosinophilic, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch OMIM:613436 autism, susceptibility to, 17 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013278 lymphatic malformation 3 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 agammaglobulinemia 2, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:exactMatch OMIM:613551 autoimmune disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome skos:exactMatch OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:exactMatch OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013356 vesicoureteral reflux 3 skos:exactMatch OMIM:613674 vesicoureteral reflux 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch OMIM:613678 brachyolmia iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013374 supernumerary der(22)t(8;22) syndrome skos:exactMatch OMIM:613700 supernumerary der(22)t(8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:exactMatch OMIM:613703 microphthalmia, isolated, with coloboma 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch OMIM:613711 hirschsprung disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:exactMatch OMIM:613712 hirschsprung disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch OMIM:613723 muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013398 acne inversa, familial, 3 skos:exactMatch OMIM:613737 acne inversa, familial, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch OMIM:613852 fucosyltransferase 6 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013464 episodic ataxia type 5 skos:exactMatch OMIM:613855 episodic ataxia, iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013476 hypertrophic cardiomyopathy 19 skos:exactMatch OMIM:613875 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch OMIM:613944 iga nephropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013508 myopia 19, autosomal dominant skos:exactMatch OMIM:613969 myopia 19, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013511 cyanosis, transient neonatal skos:exactMatch OMIM:613977 cyanosis, transient neonatal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013513 atrial fibrillation, familial, 9 skos:exactMatch OMIM:613980 atrial fibrillation, familial, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch OMIM:613986 pituitary hormone deficiency, combined, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013530 atrial fibrillation, familial, 10 skos:exactMatch OMIM:614022 atrial fibrillation, familial, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013532 protein Z deficiency skos:exactMatch OMIM:614024 protein z deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch OMIM:614034 heme oxygenase 1 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013542 Moyamoya disease 5 skos:exactMatch OMIM:614042 moyamoya disease 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013544 atrial fibrillation, familial, 11 skos:exactMatch OMIM:614049 atrial fibrillation, familial, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013545 atrial fibrillation, familial, 12 skos:exactMatch OMIM:614050 atrial fibrillation, familial, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013562 aspergillosis, susceptibility to skos:exactMatch OMIM:614079 aspergillosis, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:exactMatch OMIM:614090 sick sinus syndrome 3, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013575 plasma fibronectin deficiency skos:exactMatch OMIM:614101 plasma fibronectin deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013577 Lipedema skos:exactMatch OMIM:614103 lipedema semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013590 Stickler syndrome, type 4 skos:exactMatch OMIM:614134 stickler syndrome, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013602 paragangliomas 5 skos:exactMatch OMIM:614165 paragangliomas 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013603 myopia 20, autosomal dominant skos:exactMatch OMIM:614166 myopia 20, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013604 myopia 21, autosomal dominant skos:exactMatch OMIM:614167 myopia 21, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch OMIM:614196 nephrotic syndrome, iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch OMIM:614199 nephrotic syndrome, iia 5, with or without ocular abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013627 3M syndrome 3 skos:exactMatch OMIM:614205 three m syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013630 Meckel syndrome, type 9 skos:exactMatch OMIM:614209 meckel syndrome, iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013631 lung cancer susceptibility 5 skos:exactMatch OMIM:614210 lung cancer susceptibility 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013635 Adams-Oliver syndrome 2 skos:exactMatch OMIM:614219 adams-oliver syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013639 narcolepsy 6, susceptibility to skos:exactMatch OMIM:614223 narcolepsy 6, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013652 narcolepsy 7 skos:exactMatch OMIM:614250 narcolepsy 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:exactMatch OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch OMIM:614278 platelet-activating factor acetylhydrolase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013666 Stickler syndrome, type 5 skos:exactMatch OMIM:614284 stickler syndrome, iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:exactMatch OMIM:614306 cognitive impairment with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013682 vesicoureteral reflux 4 skos:exactMatch OMIM:614317 vesicoureteral reflux 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013683 vesicoureteral reflux 5 skos:exactMatch OMIM:614318 vesicoureteral reflux 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013684 vesicoureteral reflux 6 skos:exactMatch OMIM:614319 vesicoureteral reflux 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:614320 pancreatic cancer, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch OMIM:614321 myopathy, distal, tateyama iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch OMIM:614327 tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 4 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013710 colorectal cancer, hereditary nonpolyposis, type 5 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch OMIM:614400 glucocorticoid therapy, response to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013736 myopathy, centronuclear, 3 skos:exactMatch OMIM:614408 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013739 chilblain lupus 2 skos:exactMatch OMIM:614415 chilblain lupus 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch OMIM:614420 systemic lupus erythematosus 16 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013746 ventricular septal defect 1 skos:exactMatch OMIM:614429 ventricular septal defect 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch OMIM:614430 atrioventricular septal defect 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013748 ventricular septal defect 2 skos:exactMatch OMIM:614431 ventricular septal defect 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013749 ventricular septal defect 3 skos:exactMatch OMIM:614432 ventricular septal defect 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch OMIM:608591 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch OMIM:614474 atrioventricular septal defect 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:exactMatch OMIM:614497 microphthalmia, isolated, with coloboma 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism skos:exactMatch OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013790 mirror movements 2 skos:exactMatch OMIM:614508 mirror movements 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:exactMatch OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013815 FGFR2-related bent bone dysplasia skos:exactMatch OMIM:614592 bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:exactMatch OMIM:614613 acrodysostosis 2 with or without hormone resistance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013830 keratoconus 5 skos:exactMatch OMIM:614622 keratoconus 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013831 keratoconus 6 skos:exactMatch OMIM:614623 keratoconus 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013832 keratoconus 8 skos:exactMatch OMIM:614628 keratoconus 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013833 keratoconus 7 skos:exactMatch OMIM:614629 keratoconus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013841 stuttering, familial persistent, 3 skos:exactMatch OMIM:614655 stuttering, familial persistent, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013844 stuttering, familial persistent, 4 skos:exactMatch OMIM:614668 stuttering, familial persistent, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch OMIM:614678 pontocerebellar hypoplasia, iia 1b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013855 influenza, severe, susceptibility to skos:exactMatch OMIM:614680 influenza, severe, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes skos:exactMatch OMIM:614684 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch OMIM:614699 immunodeficiency, common variable, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013868 porokeratosis 7, multiple types skos:exactMatch OMIM:614714 porokeratosis 7, multiple types semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:exactMatch OMIM:614740 basal cell carcinoma, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013880 facial paresis, hereditary congenital, 3 skos:exactMatch OMIM:614744 facial paresis, hereditary congenital, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch OMIM:614779 heterotaxy, visceral, 6, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013892 C3 glomerulonephritis skos:exactMatch OMIM:614809 c3 glomerulopathy 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:exactMatch OMIM:614810 multiple sclerosis, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch OMIM:614814 adams-oliver syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013899 Weill-Marchesani syndrome 3 skos:exactMatch OMIM:614819 weill-marchesani syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013900 alternating hemiplegia of childhood 2 skos:exactMatch OMIM:614820 alternating hemiplegia of childhood 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch OMIM:614857 methylmalonic aciduria and homocystinuria, cblj iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch OMIM:614885 peroxisome biogenesis disorder 11b semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013972 Perrault syndrome 2 skos:exactMatch OMIM:614926 perrault syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:exactMatch OMIM:614936 palmoplantar keratoderma, punctate iia 1b semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014000 congenital heart defects, multiple types, 2 skos:exactMatch OMIM:614980 congenital heart defects, multiple types, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:exactMatch OMIM:615007 basal ganglia calcification, idiopathic, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch OMIM:615010 aicardi-goutieres syndrome 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014008 phosphohydroxylysinuria skos:exactMatch OMIM:615011 phosphohydroxylysinuria semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch OMIM:615028 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch OMIM:615031 neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014017 autism, susceptibility to, 18 skos:exactMatch OMIM:615032 intellectual developmental disorder with autism and macrocephaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch OMIM:615091 autism, susceptibility to, 19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014045 Cowden syndrome 3 skos:exactMatch OMIM:615106 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014049 urofacial syndrome 2 skos:exactMatch OMIM:615112 urofacial syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch OMIM:615135 maple syrup urine disease, mild variant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:exactMatch OMIM:615145 microphthalmia, isolated, with coloboma 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch OMIM:615158 mitochondrial complex 3 deficiency, nuclear iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch OMIM:615159 mitochondrial complex 3 deficiency, nuclear iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch OMIM:615197 restless legs syndrome, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch OMIM:616964 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch OMIM:615226 polydactyly, postaxial, iia a6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 nephrotic syndrome, iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch OMIM:615293 myofibromatosis, infantile, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014124 Adams-Oliver syndrome 4 skos:exactMatch OMIM:615297 adams-oliver syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch OMIM:615298 symphalangism, proximal, 1b semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014126 Perrault syndrome 4 skos:exactMatch OMIM:615300 perrault syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch OMIM:615314 craniosynostosis 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014130 Dowling-Degos disease 2 skos:exactMatch OMIM:615327 dowling-degos disease 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014134 pulmonary hypertension, primary, 2 skos:exactMatch OMIM:615342 pulmonary hypertension, primary, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014135 pulmonary hypertension, primary, 3 skos:exactMatch OMIM:615343 pulmonary hypertension, primary, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014136 pulmonary hypertension, primary, 4 skos:exactMatch OMIM:615344 pulmonary hypertension, primary, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch OMIM:615356 muscular dystrophy, limb-girdle, autosomal recessive 18 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch OMIM:615371 pulmonary hypertension, neonatal, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014155 atrial fibrillation, familial, 13 skos:exactMatch OMIM:615377 atrial fibrillation, familial, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014156 atrial fibrillation, familial, 14 skos:exactMatch OMIM:615378 atrial fibrillation, familial, 14 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014161 vesicoureteral reflux 7 skos:exactMatch OMIM:615390 vesicoureteral reflux 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014164 Meckel syndrome, type 11 skos:exactMatch OMIM:615397 meckel syndrome, iia 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch OMIM:615401 immunodeficiency 8 with lymphoproliferation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:exactMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014177 myopia 22, autosomal dominant skos:exactMatch OMIM:615420 myopia 22, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch OMIM:615425 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014183 myopia 23, autosomal recessive skos:exactMatch OMIM:615431 myopia 23, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014184 specific language impairment 5 skos:exactMatch OMIM:615432 specific language impairment 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch OMIM:615434 retinitis pigmentosa 82 with or without situs inversus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:exactMatch OMIM:615436 aortic aneurysm, familial thoracic 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch OMIM:615453 mitochondrial complex 3 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:exactMatch OMIM:615483 basal ganglia calcification, idiopathic, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch OMIM:615506 telangiectasia, hereditary hemorrhagic, iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:exactMatch OMIM:615523 corneal dystrophy, fuchs endothelial, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 craniosynostosis 5, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch OMIM:208080 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 nephrotic syndrome, iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014264 otosclerosis 10 skos:exactMatch OMIM:615589 otosclerosis 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch OMIM:615598 palmoplantar keratoderma, nagashima iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014307 Dowling-Degos disease 4 skos:exactMatch OMIM:615696 dowling-degos disease 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014319 renal hypodysplasia/aplasia 2 skos:exactMatch OMIM:615721 renal hypodysplasia/aplasia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014321 premature ovarian failure 8 skos:exactMatch OMIM:615723 premature ovarian failure 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014324 pachyonychia congenita 3 skos:exactMatch OMIM:615726 pachyonychia congenita 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch OMIM:615750 moyamoya disease 6 with or without achalasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 atrial fibrillation, familial, 15 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 desbuquois dysplasia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014347 short stature with microcephaly and distinctive facies skos:exactMatch OMIM:615789 short stature with microcephaly and distinctive facies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014353 immunodeficiency 23 skos:exactMatch OMIM:216920 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear iia 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch OMIM:615835 chromosome 16 inversion, 0.45-mb semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch OMIM:615838 mitochondrial complex 3 deficiency, nuclear iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:exactMatch OMIM:615848 melanoma, cutaneous malignant, susceptibility to, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch OMIM:615851 pontocerebellar hypoplasia, iia 2e semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch OMIM:615861 nephrotic syndrome, iia 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch OMIM:615863 diarrhea 7, protein-losing enteropathy iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch OMIM:615883 myopathy, tubular aggregate, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch OMIM:615889 leukoencephalopathy, progressive, with ovarian failure semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014393 lymphatic malformation 4 skos:exactMatch OMIM:615907 lymphatic malformation 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch OMIM:615919 ataxia-telangiectasia-like disorder 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014411 myopia 24, autosomal dominant skos:exactMatch OMIM:615946 myopia 24, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch OMIM:615947 hyperlipoproteinemia, iia 1d semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch OMIM:615953 kallikrein, decreased urinary activity of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014422 vesicoureteral reflux 8 skos:exactMatch OMIM:615963 vesicoureteral reflux 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein skos:exactMatch OMIM:615969 alpha-fetoprotein deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein skos:exactMatch OMIM:615970 alpha-fetoprotein, hereditary persistence of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014459 Adams-Oliver syndrome 5 skos:exactMatch OMIM:616028 adams-oliver syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014476 episodic ataxia type 8 skos:exactMatch OMIM:616055 episodic ataxia, iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014478 mirror movements 3 skos:exactMatch OMIM:616059 mirror movements 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 skos:exactMatch OMIM:616087 iia 2 diabetes 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch OMIM:616111 mitochondrial complex 3 deficiency, nuclear iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014501 macular degeneration, early-onset skos:exactMatch OMIM:616118 macular degeneration, early-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014504 Perrault syndrome 5 skos:exactMatch OMIM:616138 perrault syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014508 vitelliform macular dystrophy 4 skos:exactMatch OMIM:616151 macular dystrophy, vitelliform, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014509 vitelliform macular dystrophy 5 skos:exactMatch OMIM:616152 macular dystrophy, vitelliform, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch OMIM:616158 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014515 macular dystrophy with central cone involvement skos:exactMatch OMIM:616170 macular dystrophy with central cone involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014522 retinal dystrophy and obesity skos:exactMatch OMIM:616188 retinal dystrophy and obesity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch OMIM:616208 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014535 hyperproinsulinemia skos:exactMatch OMIM:616214 hyperproinsulinemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch OMIM:616219 fibrosis of extraocular muscles, congenital, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014549 lethal congenital contracture syndrome 6 skos:exactMatch OMIM:616248 lethal congenital contracture syndrome 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014551 short stature with nonspecific skeletal abnormalities skos:exactMatch OMIM:616255 short stature with nonspecific skeletal abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014569 lethal congenital contracture syndrome 7 skos:exactMatch OMIM:616286 lethal congenital contracture syndrome 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014570 lethal congenital contracture syndrome 8 skos:exactMatch OMIM:616287 lethal congenital contracture syndrome 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014575 Singleton-Merten syndrome 2 skos:exactMatch OMIM:616298 singleton-merten syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014624 Brown syndrome skos:exactMatch OMIM:616407 brown syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:exactMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:exactMatch OMIM:616428 microphthalmia, isolated, with coloboma 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014642 candidiasis, familial, 9 skos:exactMatch OMIM:616445 candidiasis, familial, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014646 Zimmermann-Laband syndrome 2 skos:exactMatch OMIM:616455 zimmermann-laband syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch OMIM:616462 acrofacial dysostosis, cincinnati iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 ullrich congenital muscular dystrophy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy skos:exactMatch OMIM:616487 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014663 Silver-Russell syndrome 3 skos:exactMatch OMIM:616489 silver-russell syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014670 lethal congenital contracture syndrome 9 skos:exactMatch OMIM:616503 lethal congenital contracture syndrome 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:exactMatch OMIM:616505 neuropathy, hereditary motor and sensory, iia vib, with optic atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:exactMatch OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:exactMatch OMIM:616534 thyroid cancer, nonmedullary, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:exactMatch OMIM:616535 thyroid cancer, nonmedullary, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:exactMatch OMIM:616541 short stature, microcephaly, and endocrine dysfunction semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014695 glioma susceptibility 9 skos:exactMatch OMIM:616568 glioma susceptibility 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch OMIM:616579 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014703 Adams-Oliver syndrome 6 skos:exactMatch OMIM:616589 adams-oliver syndrome 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014705 craniosynostosis 6 skos:exactMatch OMIM:616602 craniosynostosis 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014712 Senior-Loken syndrome 9 skos:exactMatch OMIM:616629 senior-loken syndrome 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014713 porokeratosis 9, multiple types skos:exactMatch OMIM:616631 porokeratosis 9, multiple types semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -600,7 +925,9 @@ MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 sko MONDO:0014786 IgA nephropathy, susceptibility to, 3 skos:exactMatch OMIM:616818 iga nephropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch OMIM:616827 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014792 Paget disease of bone 6 skos:exactMatch OMIM:616833 paget disease of bone 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014795 exercise intolerance, riboflavin-responsive skos:exactMatch OMIM:616839 exercise intolerance, riboflavin-responsive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch OMIM:616840 parkinson disease 23, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch OMIM:616852 myopathy, scapulohumeroperoneal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014804 sideroblastic anemia 3 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -611,6 +938,7 @@ MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch OMIM:616873 im MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch OMIM:616887 intellectual developmental disorder, autosomal recessive 52 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch OMIM:616892 nephrotic syndrome, iia 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch OMIM:616893 nephrotic syndrome, iia 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch OMIM:616900 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014825 chromosome 11p13 deletion syndrome, distal skos:exactMatch OMIM:616902 chromosome 11p13 deletion syndrome, distal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -646,6 +974,7 @@ MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch O MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch OMIM:617093 growth retardation, impaired intellectual development, hypotonia, and hepatopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014919 sessile serrated polyposis cancer syndrome skos:exactMatch OMIM:617108 sessile serrated polyposis cancer syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch OMIM:617114 myopathy, myofibrillar, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014923 peeling skin syndrome 5 skos:exactMatch OMIM:617115 peeling skin syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch OMIM:617116 epilepsy, familial focal, with variable foci 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch OMIM:617118 epilepsy, familial focal, with variable foci 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -677,6 +1006,7 @@ MONDO:0014979 myoclonus, intractable, neonatal skos:exactMatch OMIM:617235 myocl MONDO:0014982 myopia 25, autosomal dominant skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014989 uncombable hair syndrome 2 skos:exactMatch OMIM:617251 uncombable hair syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014990 uncombable hair syndrome 3 skos:exactMatch OMIM:617252 uncombable hair syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch OMIM:617258 myopathy, myofibrillar, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch OMIM:617260 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch OMIM:617268 neurodevelopmental disorder with hypotonia, seizures, and absent language semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch OMIM:617270 intellectual developmental disorder, autosomal recessive 58 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -685,6 +1015,7 @@ MONDO:0014999 tooth agenesis, selective, 9 skos:exactMatch OMIM:617275 tooth age MONDO:0015001 atrial fibrillation, familial, 18 skos:exactMatch OMIM:617280 atrial fibrillation, familial, 18 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch OMIM:617290 epilepsy, early-onset, vitamin b6-dependent semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch OMIM:617294 epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch OMIM:617297 amelogenesis imperfecta, iia 1j semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015009 lymphatic malformation 7 skos:exactMatch OMIM:617300 lymphatic malformation 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:exactMatch OMIM:617303 mucopolysaccharidosis-plus syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch OMIM:617306 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -692,17 +1023,20 @@ MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch OMI MONDO:0015019 Yao syndrome skos:exactMatch OMIM:617321 yao syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch OMIM:617323 intellectual developmental disorder, autosomal recessive 59 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, iia 5a semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:605249 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:153640 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:600208 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:153640 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:605249 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018023 hemoglobin M disease skos:exactMatch OMIM:617971 methemoglobinemia, beta iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder LEXMATCH MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder LEXMATCH +MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder LEXMATCH MONDO:0018805 bile duct cyst skos:exactMatch OMIM:603003 bile duct cysts semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -714,10 +1048,12 @@ MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy skos:exactMatch OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -727,8 +1063,11 @@ MONDO:0020748 sitosterolemia 2 skos:exactMatch OMIM:618666 sitosterolemia 2 sema MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020751 orthostatic hypotension 2 skos:exactMatch OMIM:618182 orthostatic hypotension 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020763 Menke-Hennekam syndrome 1 skos:exactMatch OMIM:618332 menke-hennekam syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:exactMatch OMIM:618186 neuropathy, congenital hypomyelinating, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020769 Menke-Hennekam syndrome 2 skos:exactMatch OMIM:618333 menke-hennekam syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020786 obsolete short sleep, familial natural, 2 skos:exactMatch OMIM:618591 short sleep, familial natural, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:exactMatch OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020795 Silver-Russell syndrome 5 skos:exactMatch OMIM:618908 silver-russell syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch OMIM:618883 hypoparathyroidism, familial isolated, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020835 methemoglobinemia, alpha type skos:exactMatch OMIM:617973 methemoglobinemia, alpha iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -763,6 +1102,8 @@ MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch OMIM:613 MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch OMIM:613339 epilepsy, hot water, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024520 renal hypodysplasia/aplasia 3 skos:exactMatch OMIM:617805 renal hypodysplasia/aplasia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch OMIM:127500 dyschromatosis universalis hereditaria 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024532 otofaciocervical syndrome 1 skos:exactMatch OMIM:166780 otofaciocervical syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024570 hyperparathyroidism 4 skos:exactMatch OMIM:617343 hyperparathyroidism 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -780,10 +1121,19 @@ MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch OMIM:619328 le MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025712 angioedema, hereditary, 4 skos:exactMatch OMIM:619360 angioedema, hereditary, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025713 angioedema, hereditary, 7 skos:exactMatch OMIM:619366 angioedema, hereditary, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch OMIM:301028 nephrotic syndrome, iia 20 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch OMIM:301031 congenital disorder of glycosylation, iia icc semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0026768 obsolete warfarin sensitivity, X-linked skos:exactMatch OMIM:301052 warfarin sensitivity, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch OMIM:617402 cutis laxa, autosomal recessive, iia 2c semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029130 polydactyly, postaxial, type A8 skos:exactMatch OMIM:618123 polydactyly, postaxial, iia a8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029132 Liddle syndrome 3 skos:exactMatch OMIM:618126 liddle syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch OMIM:618143 developmental and epileptic encephalopathy 95 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029141 Usher syndrome, type 4 skos:exactMatch OMIM:618144 usher syndrome, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030004 autism, susceptibility to, 20 skos:exactMatch OMIM:618830 autism, susceptibility to, 20 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch OMIM:618832 epilepsy, early-onset, with or without developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -971,6 +1321,7 @@ MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch OMIM:619845 retinitis pigm MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 LEXMATCH MONDO:0030809 spermatogenic failure 72 skos:exactMatch OMIM:619867 spermatogenic failure 72 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch OMIM:619868 cholestasis, progressive familial intrahepatic, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -980,6 +1331,7 @@ MONDO:0030819 meckel syndrome 14 skos:exactMatch OMIM:619879 meckel syndrome 14 MONDO:0030822 renal hypodysplasia/aplasia 4 skos:exactMatch OMIM:619887 renal hypodysplasia/aplasia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:exactMatch OMIM:619855 thyroid hormone metabolism, abnormal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030840 mismatch repair cancer syndrome 2 skos:exactMatch OMIM:619096 mismatch repair cancer syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030841 mismatch repair cancer syndrome 3 skos:exactMatch OMIM:619097 mismatch repair cancer syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -988,7 +1340,7 @@ MONDO:0030849 intellectual developmental disorder with speech delay and axonal p MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:exactMatch OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:exactMatch OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030858 immunodeficiency 75 skos:exactMatch OMIM:619126 immunodeficiency 75 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030858 immunodeficiency 75 skos:exactMatch OMIM:619126 immunodeficiency 75 with lymphoproliferation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030859 COACH syndrome 2 skos:exactMatch OMIM:619111 coach syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch OMIM:619112 neuronopathy, distal hereditary motor, iia 5c semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030862 COACH syndrome 3 skos:exactMatch OMIM:619113 coach syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1035,41 +1387,39 @@ MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 LEXMATCH +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset LEXMATCH MONDO:0030961 Olmsted syndrome 2 skos:exactMatch OMIM:619208 olmsted syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030963 Li-Campeau syndrome skos:exactMatch OMIM:619189 li-campeau syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 LEXMATCH MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 LEXMATCH +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 LEXMATCH +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections LEXMATCH MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 LEXMATCH MONDO:0030973 immunodeficiency 77 skos:exactMatch OMIM:619223 immunodeficiency 77 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch OMIM:619224 mitochondrial complex 2 deficiency, nuclear iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 LEXMATCH MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch OMIM:619215 oculomotor-abducens synkinesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030977 neuropathy, hereditary motor, with myopathic features skos:exactMatch OMIM:619216 neuropathy, hereditary motor, with myopathic features semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030978 endove syndrome, limb-only type skos:exactMatch OMIM:619217 endove syndrome, limb-only iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030979 endove syndrome, limb-brain type skos:exactMatch OMIM:619218 endove syndrome, limb-brain iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch OMIM:619221 sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 LEXMATCH MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch OMIM:619228 developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch OMIM:619229 kohlschutter-tonz syndrome-like semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch OMIM:619232 bile acid conjugation defect 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 neurodevelopmental disorder with or without autism or seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 global developmental delay with speech and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 bleeding disorder, platelet-type, 24 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:exactMatch OMIM:619272 mitochondrial complex 1 deficiency, nuclear iia 37 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 hypercholanemia, familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1077,39 +1427,66 @@ MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch OMIM:619263 nephrotic MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 glanzmann thrombasthenia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive LEXMATCH +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 LEXMATCH +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism LEXMATCH +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection LEXMATCH +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 LEXMATCH +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 LEXMATCH +MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 LEXMATCH +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 LEXMATCH +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 LEXMATCH +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 LEXMATCH +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 LEXMATCH +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus LEXMATCH +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic LEXMATCH +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive LEXMATCH +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 LEXMATCH +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 LEXMATCH +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii LEXMATCH +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii LEXMATCH +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii LEXMATCH +MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k LEXMATCH MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:exactMatch OMIM:618162 spondyloepimetaphyseal dysplasia, krakow iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch OMIM:618176 nephrotic syndrome, iia 17 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch OMIM:618177 nephrotic syndrome, iia 18 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch OMIM:618178 nephrotic syndrome, iia 19 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch OMIM:618180 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:exactMatch OMIM:618183 diarrhea 10, protein-losing enteropathy iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032591 hyperparathyroidism, transient neonatal skos:exactMatch OMIM:618188 hyperparathyroidism, transient neonatal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032603 polydactyly, postaxial, type A9 skos:exactMatch OMIM:618219 polydactyly, postaxial, iia a9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch OMIM:618367 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032785 polydactyly, postaxial, type a10 skos:exactMatch OMIM:618498 polydactyly, postaxial, iia a10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy skos:exactMatch OMIM:618511 neuropathy, hereditary motor and sensory, iia vic, with optic atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:exactMatch OMIM:618512 o'donnell-luria-rodan syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch OMIM:618523 hyper-ige recurrent infection syndrome 4b, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032811 night blindness, congenital stationary, type1i skos:exactMatch OMIM:618555 night blindness, congenital stationary, type1i semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032841 Usher syndrome, type 1M skos:exactMatch OMIM:618632 usher syndrome, iia 1m semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:exactMatch OMIM:618733 neuromuscular oculoauditory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:exactMatch OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032941 myopia 27 skos:exactMatch OMIM:618827 myopia 27, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch OMIM:301006 galloway-mowat syndrome 2, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch OMIM:617571 ichthyosis, congenital, autosomal recessive 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch OMIM:617574 ichthyosis, congenital, autosomal recessive 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033203 nephrotic syndrome 14 skos:exactMatch OMIM:617575 nephrotic syndrome, iia 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033262 nephrotic syndrome 15 skos:exactMatch OMIM:617609 nephrotic syndrome, iia 15 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033280 nephrotic syndrome 16 skos:exactMatch OMIM:617783 nephrotic syndrome, iia 16 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch OMIM:618004 developmental and epileptic encephalopathy 64 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch OMIM:617899 leukodystrophy, hypomyelinating, 14 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1143,12 +1520,18 @@ MONDO:0033664 Kilquist syndrome skos:exactMatch OMIM:619080 kilquist syndrome se MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch OMIM:619083 delpire-mcneill syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0034022 Bethlem myopathy 2 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 myopathy, congenital, with fast-twitch (type ii) fiber atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 congenital myopathy 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 glucocorticoid deficiency 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044205 Shwachman-Diamond syndrome 2 skos:exactMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044208 specific granule deficiency 2 skos:exactMatch OMIM:617475 specific granule deficiency 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1173,20 +1556,93 @@ MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:61 MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:exactMatch OMIM:617364 congenital heart defects and ectodermal dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch OMIM:617433 retinitis pigmentosa 78 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch OMIM:617441 thrombocytopenia, anemia, and myelofibrosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044317 premature ovarian failure 13 skos:exactMatch OMIM:617442 premature ovarian failure 13 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch OMIM:617450 jansen-de vries syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch OMIM:617460 retinitis pigmentosa 79 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch OMIM:617478 structural heart defects and renal anomalies syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:exactMatch OMIM:617532 intellectual developmental disorder with neuropsychiatric features semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044323 Rahman syndrome skos:exactMatch OMIM:617537 rahman syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch OMIM:617784 fanconi anemia, complementation group w semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 3-methylglutaconic aciduria, iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch OMIM:617698 3-methylglutaconic aciduria, iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044777 premature ovarian failure 14 skos:exactMatch OMIM:618014 premature ovarian failure 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0049221 myopia 26, X-linked, female-limited skos:exactMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch OMIM:617370 peroxisome biogenesis disorder 10b semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:exactMatch OMIM:617383 avascular necrosis of femoral head, primary, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch OMIM:617435 lopes-maciel-rodan syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054577 bleeding disorder, platelet-type, 21 skos:exactMatch OMIM:617443 bleeding disorder, platelet-type, 21 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054582 Townes-Brocks syndrome 2 skos:exactMatch OMIM:617466 townes-brocks syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054591 Stankiewicz-Isidor syndrome skos:exactMatch OMIM:617516 stankiewicz-isidor syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:exactMatch OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 proteasome-associated autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 polycystic liver disease 3 with or without kidney cysts semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:exactMatch OMIM:617916 neurodegeneration with brain iron accumulation 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:exactMatch OMIM:617917 neurodegeneration with brain iron accumulation 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054771 keratoconus 9 skos:exactMatch OMIM:617928 keratoconus 9 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch OMIM:617951 leukodystrophy, hypomyelinating, 15 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch OMIM:617964 leukodystrophy, hypomyelinating, 16 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch OMIM:618000 ehlers-danlos syndrome, classic-like, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch OMIM:618006 leukodystrophy, hypomyelinating, 17 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:exactMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch OMIM:618052 cardiomyopathy, familial hypertrophic, 27 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054852 peeling skin syndrome 6 skos:exactMatch OMIM:618084 peeling skin syndrome 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0054862 premature ovarian failure 15 skos:exactMatch OMIM:618096 premature ovarian failure 15 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch OMIM:617547 retinal dystrophy with or without macular staphyloma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch OMIM:617561 cohen-gibson syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch OMIM:617602 congenital heart defects and skeletal malformations syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060550 polydactyly, postaxial, type a7 skos:exactMatch OMIM:617642 polydactyly, postaxial, iia a7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:exactMatch OMIM:617643 cerebellar atrophy, developmental delay, and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch OMIM:617662 joint laxity, short stature, and myopia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch OMIM:617804 neurodevelopmental disorder with variable motor and language impairment semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060662 Diamond-Blackfan anemia-like skos:exactMatch OMIM:617911 diamond-blackfan anemia-like semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0060677 chromosome 1p35 deletion syndrome skos:exactMatch OMIM:617930 chromosome 1p35 deletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:exactMatch OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060707 Ververi-Brady syndrome skos:exactMatch OMIM:617982 ververi-brady syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060711 Jaberi-Elahi syndrome skos:exactMatch OMIM:617988 jaberi-elahi syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060729 protoporphyria, erythropoietic, 2 skos:exactMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch OMIM:618076 neurodevelopmental disorder with spasticity and poor growth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100092 myoclonus, familial, 2 skos:exactMatch OMIM:618364 myoclonus, familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100119 Knobloch syndrome 2 skos:exactMatch OMIM:618458 knobloch syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to LEXMATCH MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 LEXMATCH @@ -1195,9 +1651,6 @@ MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100221 IFAP syndrome 2 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch OMIM:613938 parasomnia, sleepwalking iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 LEXMATCH -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 LEXMATCH -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriatic arthritis, susceptibility to LEXMATCH MONDO:0100255 adenosine kinase deficiency skos:exactMatch OMIM:611094 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100285 extrahepatic biliary atresia skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 93c576ad..05e5e3e5 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -15,8 +15,6 @@ MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 I MONDO:0008225 normokalemic periodic paralysis skos:exactMatch Orphanet:680 Normokalemic periodic paralysis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008672 Watson syndrome skos:exactMatch Orphanet:3444 Watson syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome LEXMATCH -MONDO:0008932 premature centromere division skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:exactMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pffd LEXMATCH MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 LEXMATCH MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch Orphanet:85328 X-linked intellectual disability, Turner type semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome LEXMATCH @@ -372,7 +370,6 @@ MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:ex MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:exactMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016565 syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd LEXMATCH MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016582 congenital mitral malformation skos:exactMatch Orphanet:2447 Congenital mitral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -507,6 +504,7 @@ MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytop MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:exactMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -545,6 +543,7 @@ MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exac MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch Orphanet:293 Congenital herpes simplex virus infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:exactMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:exactMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017388 celiac trunk compression syndrome skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -594,8 +593,8 @@ MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphane MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -697,7 +696,6 @@ MONDO:0018192 paratesticular adenocarcinoma skos:exactMatch Orphanet:363478 Para MONDO:0018199 new-onset refractory status epilepticus skos:exactMatch Orphanet:363558 New-onset refractory status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018212 familial cervical artery dissection skos:exactMatch Orphanet:36382 Familial cervical artery dissection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd LEXMATCH MONDO:0018230 skeletal dysplasia skos:exactMatch Orphanet:364526 Primary bone dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -890,6 +888,7 @@ MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch Orpha MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome skos:exactMatch Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019428 fried syndrome skos:exactMatch Orphanet:85335 Fried syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1178,8 +1177,8 @@ MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMa MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome LEXMATCH MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome LEXMATCH +MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome LEXMATCH MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome LEXMATCH MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 LEXMATCH @@ -1387,7 +1386,6 @@ MONDO:0800092 genetic inflammatory or rheumatoid-like osteoarthropathy skos:exac MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800095 syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis LEXMATCH MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations LEXMATCH MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia LEXMATCH MONDO:0850010 congenital optic disc excavation skos:exactMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital optic disc excavation LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv index e261ddf0..b6146d94 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv @@ -5,8 +5,6 @@ MONDO:0002470 photosensitive trichothiodystrophy skos:narrowMatch DOID:0111866 t MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:narrowMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label glycogen-rich carcinoma LEXMATCH MONDO:0003690 adult anaplastic ependymoma skos:narrowMatch DOID:5889 anaplastic ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label anaplastic ependymoma LEXMATCH MONDO:0004249 pediatric supratentorial ependymoma skos:narrowMatch DOID:0080890 supratentorial ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label supratentorial ependymoma LEXMATCH -MONDO:0004483 thyroid gland oncocytic adenoma skos:narrowMatch DOID:0070311 oligoasthenoteratozoospermia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym oat LEXMATCH -MONDO:0005247 bacterial urinary tract infection skos:narrowMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym uti LEXMATCH MONDO:0005247 bacterial urinary tract infection skos:narrowMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label urinary tract infection LEXMATCH MONDO:0007157 arthrogryposis, distal, type 1A skos:narrowMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label arthrogryposis multiplex congenita LEXMATCH MONDO:0007540 multiple endocrine neoplasia type 1 skos:narrowMatch DOID:3125 multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym multiple endocrine adenomatosis LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 3e4397be..7c449ad1 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -4,43 +4,40 @@ MONDO:0000023 infantile liver failure DOID:0080716 MONDO:equivalentTo infantile MONDO:0000638 benign glioma DOID:0080829 MONDO:equivalentTo low grade glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign glioma MONDO:0001509 endocrine exophthalmos DOID:0081120 MONDO:equivalentTo Graves ophthalmopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid eye disorder MONDO:0002900 cerebral neuroblastoma DOID:0080905 MONDO:equivalentTo central nervous system neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system neuroblastoma -MONDO:0003917 heart lymphoma DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcl +MONDO:0003308 pleural mesothelioma DOID:5157 MONDO:equivalentTo benign pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of pleura MONDO:0005161 human papilloma virus infection DOID:11166 MONDO:equivalentTo Human papillomavirus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label human papillomavirus infectious disorder MONDO:0005224 acute myeloblastic leukemia without maturation DOID:0081086 MONDO:equivalentTo acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia without maturation MONDO:0005405 childhood onset asthma DOID:0080815 MONDO:equivalentTo childhood-onset asthma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood asthma MONDO:0006033 diffuse intrinsic pontine glioma DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shml MONDO:0006515 acute pancreatitis DOID:0080998 MONDO:equivalentTo acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym overactive bladder MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pdals -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0007160 Stickler syndrome type 1 DOID:0080676 MONDO:equivalentTo Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hardcastle syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome +MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome +MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome +MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome DOID:0080723 MONDO:equivalentTo Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 MONDO:0007538 amelogenesis imperfecta, type 3A DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 -MONDO:0007538 amelogenesis imperfecta, type 3A DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ai3 MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 @@ -50,10 +47,10 @@ MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo famili MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency MONDO:0007878 congenital laryngomalacia DOID:0080833 MONDO:equivalentTo laryngomalacia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital laryngomalacia -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema +MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder +MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 7 MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dutch-kentucky syndrome MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht syndrome @@ -61,196 +58,162 @@ MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalent MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trismus-pseudocamptodactyly syndrome MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trismus-pseudocamptodactyly syndrome MONDO:0008048 autosomal dominant centronuclear myopathy DOID:0111223 MONDO:equivalentTo centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 -MONDO:0008106 nystagmus 2, congenital, autosomal dominant DOID:0111792 MONDO:equivalentTo congenital nystagmus 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys2 MONDO:0008374 retinal cone dystrophy type 1 DOID:0081024 MONDO:equivalentTo retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 1 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant DOID:0112285 MONDO:equivalentTo autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spondyloepiphyseal dysplasia tarda MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 2a MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 2a -MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 3 -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome +MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops3 MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 3 +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 3 +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008926 COFS syndrome DOID:0080910 MONDO:equivalentTo cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome -MONDO:0009009 hypoplasminogenemia DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia MONDO:0009009 hypoplasminogenemia DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia +MONDO:0009009 hypoplasminogenemia DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive DOID:0080802 MONDO:equivalentTo autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia DOID:0111622 MONDO:equivalentTo ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, debre type +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, classic type MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal syndrome MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ghosal hematodiaphyseal syndrome MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ghosal hematodiaphyseal dysplasia -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal dysplasia-anemia syndrome +MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria DOID:0112252 MONDO:equivalentTo glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutathione synthetase deficiency without type 5-oxoprolinuria MONDO:0009305 granulocytopenia with immunoglobulin abnormality DOID:0111974 MONDO:equivalentTo immunodeficiency 59 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 59 and hypoglycemia -MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency +MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency with skin granulomas MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome DOID:0112254 MONDO:equivalentTo hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic veno-occlusive disorder-immunodeficiency syndrome MONDO:0009354 methylcobalamin deficiency type cblE DOID:0112255 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functional methionine synthase deficiency type cble MONDO:0009372 encephalopathy due to hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency MONDO:0009372 encephalopathy due to hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy DOID:0112263 MONDO:equivalentTo hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0009486 autosomal recessive Kenny-Caffey syndrome DOID:0080722 MONDO:equivalentTo Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epm4 -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome +MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amrf MONDO:0009732 congenital nephrotic syndrome, Finnish type DOID:0080390 MONDO:equivalentTo nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finnish congenital nephrosis MONDO:0009779 autosomal recessive omodysplasia DOID:0080844 MONDO:equivalentTo omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency -MONDO:0009926 autosomal recessive multiple pterygium syndrome DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency MONDO:0009926 autosomal recessive multiple pterygium syndrome DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome MONDO:0009953 leukocyte adhesion deficiency type II DOID:0080492 MONDO:equivalentTo leukocyte adhesion deficiency 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 2 MONDO:0009959 peroxisome biogenesis disorder type 3B DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to zap70 deficiency +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive DOID:0112293 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome DOID:0112196 MONDO:equivalentTo spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0010110 tetraamelia-multiple malformations syndrome DOID:0112191 MONDO:equivalentTo tetraamelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tetraamelia-multiple malformations syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btp1 syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 1 +MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constitutional mismatch repair deficiency syndrome -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of ulna and fibula -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit +MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btp1 syndrome MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym al awadi-raas-rothschild syndrome +MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit +MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of ulna and fibula MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia/hypoplasia of limbs and pelvis MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency -MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria +MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 DOID:0112172 MONDO:equivalentTo hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x MONDO:0010225 Dent disease type 1 DOID:0111798 MONDO:equivalentTo X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 -MONDO:0010230 intellectual disability, X-linked 23 DOID:0112049 MONDO:equivalentTo non-syndromic X-linked intellectual disability 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx23 -MONDO:0010231 intellectual disability, X-linked 20 DOID:0112023 MONDO:equivalentTo non-syndromic X-linked intellectual disability 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx20 -MONDO:0010236 intellectual disability, X-linked 14 DOID:0112027 MONDO:equivalentTo non-syndromic X-linked intellectual disability 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx14 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked lissencephaly type 1 -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation -MONDO:0010250 intellectual disability, X-linked 49 DOID:0112060 MONDO:equivalentTo Raynaud-Claes syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx49 -MONDO:0010251 intellectual disability, X-linked 50 DOID:0112029 MONDO:equivalentTo non-syndromic X-linked intellectual disability 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx50 -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome +MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome +MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats-mr MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amme complex MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amme syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats-mr -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia +MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome +MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome DOID:0112149 MONDO:equivalentTo terminal osseous dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal osseous dysplasia-pigmentary defects syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i -MONDO:0010300 intellectual disability, X-linked 53 DOID:0112047 MONDO:equivalentTo non-syndromic X-linked intellectual disability 53 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx53 -MONDO:0010307 intellectual disability, X-linked 73 DOID:0112017 MONDO:equivalentTo non-syndromic X-linked intellectual disability 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx73 -MONDO:0010309 intellectual disability, X-linked 42 DOID:0112057 MONDO:equivalentTo non-syndromic X-linked intellectual disability 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx42 -MONDO:0010322 intellectual disability, X-linked 2 DOID:0112016 MONDO:equivalentTo non-syndromic X-linked intellectual disability 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx2 -MONDO:0010324 intellectual disability, X-linked 81 DOID:0112033 MONDO:equivalentTo non-syndromic X-linked intellectual disability 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx81 -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atmds -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hemoglobin h disorder +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hbh disorder +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hemoglobin h disorder MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-thalassemia-myelodysplastic syndrome -MONDO:0010329 intellectual disability, X-linked 77 DOID:0112039 MONDO:equivalentTo non-syndromic X-linked intellectual disability 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx77 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome DOID:0112123 MONDO:equivalentTo deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome -MONDO:0010347 intellectual disability, X-linked 84 DOID:0112030 MONDO:equivalentTo non-syndromic X-linked intellectual disability 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx84 -MONDO:0010352 intellectual disability, X-linked 82 DOID:0112052 MONDO:equivalentTo non-syndromic X-linked intellectual disability 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx82 -MONDO:0010369 nystagmus 5, congenital, X-linked DOID:0111796 MONDO:equivalentTo congenital nystagmus 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys5 MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss DOID:0111741 MONDO:equivalentTo X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency -MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly -MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scax5 MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 -MONDO:0010450 intellectual disability, X-linked 89 DOID:0112031 MONDO:equivalentTo non-syndromic X-linked intellectual disability 89 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx89 -MONDO:0010453 intellectual disability, X-linked 92 DOID:0112032 MONDO:equivalentTo non-syndromic X-linked intellectual disability 92 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx92 -MONDO:0010454 intellectual disability, X-linked 88 DOID:0112053 MONDO:equivalentTo non-syndromic X-linked intellectual disability 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx88 -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked dominant chondrodysplasia, chassaing-lacombe type +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome DOID:0111811 MONDO:equivalentTo syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010490 SSR4-congenital disorder of glycosylation DOID:0080574 MONDO:equivalentTo congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y -MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted DOID:0112025 MONDO:equivalentTo female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrxs99f MONDO:0010506 intellectual disability, X-linked 61 DOID:0112042 MONDO:equivalentTo Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome -MONDO:0010506 intellectual disability, X-linked 61 DOID:0112042 MONDO:equivalentTo Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx61 -MONDO:0010508 intellectual disability, X-linked 103 DOID:0112020 MONDO:equivalentTo non-syndromic X-linked intellectual disability 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx103 -MONDO:0010509 intellectual disability, X-linked 104 DOID:0112018 MONDO:equivalentTo non-syndromic X-linked intellectual disability 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx104 -MONDO:0010510 intellectual disability, X-linked 105 DOID:0112036 MONDO:equivalentTo non-syndromic X-linked intellectual disability 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx105 -MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked DOID:0111863 MONDO:equivalentTo X-linked congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbavdx -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd50 MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency +MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked DOID:0111850 MONDO:equivalentTo primary ciliary dyskinesia 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cild36 +MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency MONDO:0010529 X-linked spinocerebellar ataxia type 3 DOID:0111831 MONDO:equivalentTo X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked distal arthrogryposis multiplex congenita +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spinal muscular atrophy type 2 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinal muscular atrophy type 2 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy with arthrogryposis -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smax2 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked distal arthrogryposis multiplex congenita MONDO:0010534 X-linked spinocerebellar ataxia type 4 DOID:0111832 MONDO:equivalentTo X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 MONDO:0010547 X-linked progressive cerebellar ataxia DOID:0111829 MONDO:equivalentTo X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dfnx2 +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xhed +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland DOID:0111388 MONDO:equivalentTo X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hypoparathyroidism MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX DOID:0111814 MONDO:equivalentTo methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX DOID:0111814 MONDO:equivalentTo methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblx MONDO:0010671 microphthalmia, syndromic 1 DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz dysplasia -MONDO:0010671 microphthalmia, syndromic 1 DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops1 +MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops7 MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear skin defects with multiple congenital anomalies MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mls syndrome +MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear skin defects with multiple congenital anomalies +MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 +MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 MONDO:0010732 spastic paraparesis-deafness syndrome DOID:0081100 MONDO:equivalentTo spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome @@ -259,97 +222,87 @@ MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops8 +MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 8 MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mmep syndrome MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 8 -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 8 MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viljoen-smart syndrome MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental verbal dyspraxia -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood apraxia of speech -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas +MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech +MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental verbal dyspraxia +MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 -MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome +MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome MONDO:0011381 dominant beta-thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body beta-thalassemia MONDO:0011493 Stickler syndrome type 2 DOID:0080675 MONDO:equivalentTo Stickler syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 MONDO:0011577 myopathy, proximal, and ophthalmoplegia DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myopathy and ophthalmoplegia +MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency MONDO:0011830 lissencephaly due to LIS1 mutation DOID:0112237 MONDO:equivalentTo lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pafah1b1-related lissencephaly MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome DOID:0112305 MONDO:equivalentTo spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0011904 seizures, benign familial infantile, 3 DOID:0081116 MONDO:equivalentTo benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal-infantile seizures +MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome +MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with brain and digit anomalies -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops6 -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 -MONDO:0011988 neutrophil immunodeficiency syndrome DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil immunodeficiency syndrome MONDO:0011988 neutrophil immunodeficiency syndrome DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neutrophil immunodeficiency syndrome -MONDO:0012015 nystagmus 3, congenital, autosomal dominant DOID:0111793 MONDO:equivalentTo congenital nystagmus 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys3 -MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant +MONDO:0011988 neutrophil immunodeficiency syndrome DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil immunodeficiency syndrome MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant +MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome DOID:0080695 MONDO:equivalentTo Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome -MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 +MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 +MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 MONDO:0012342 7q11.23 microduplication syndrome DOID:0080926 MONDO:equivalentTo 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 7q11.23 microduplication syndrome MONDO:0012351 zygodactyly type 1 DOID:0111820 MONDO:equivalentTo zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0012410 Finnish upper limb-onset distal myopathy DOID:0111189 MONDO:equivalentTo distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 -MONDO:0012410 Finnish upper limb-onset distal myopathy DOID:0111189 MONDO:equivalentTo distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpd3 MONDO:0012413 syndromic microphthalmia type 5 DOID:0111806 MONDO:equivalentTo syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 MONDO:0012475 cone dystrophy with supernormal rod response DOID:0081022 MONDO:equivalentTo retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal cone dystrophy type 3b MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile agranulocytosis -MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome +MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome -MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcops10 MONDO:0012703 lissencephaly due to TUBA1A mutation DOID:0112232 MONDO:equivalentTo lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 -MONDO:0012703 lissencephaly due to TUBA1A mutation DOID:0112232 MONDO:equivalentTo lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lis3 -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia -MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome -MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ane syndrome -MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator DOID:0111906 MONDO:equivalentTo thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thph9 +MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome +MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome MONDO:0012883 acute promyelocytic leukemia DOID:0081081 MONDO:equivalentTo acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scn4 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency MONDO:0013058 cystic leukoencephalopathy without megalencephaly DOID:0081007 MONDO:equivalentTo RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins DOID:0080778 MONDO:equivalentTo transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital hrg deficiency -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mddgc2 +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency MONDO:0013209 non-alcoholic fatty liver disease DOID:0080546 MONDO:equivalentTo non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver MONDO:0013229 hot water reflex epilepsy DOID:0081104 MONDO:equivalentTo hot water epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hot water epilepsy MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly DOID:0081046 MONDO:equivalentTo frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 2 @@ -358,83 +311,78 @@ MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement D MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type DOID:0112224 MONDO:equivalentTo chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome DOID:0111946 MONDO:equivalentTo immunodeficiency 31C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31c +MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monocytopenia with susceptibility to infections MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocytopenia and mycobacterial infection syndrome -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections +MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dendritic cell, monocyte, b and nk lymphoid deficiency +MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 21 -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gvhd +MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder -MONDO:0013751 cutis laxa, autosomal dominant 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 -MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 -MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 +MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 +MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 +MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy +MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related bleeding disorder MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombomodulin-related bleeding disorder MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related coagulopathy -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related bleeding disorder -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy MONDO:0013885 Malan overgrowth syndrome DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cnm4 -MONDO:0013903 nystagmus 7, congenital, autosomal dominant DOID:0111791 MONDO:equivalentTo congenital nystagmus 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nys7 MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 +MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12b deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 29, mycobacteriosis -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12b deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 29 +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12b deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12b deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial stat1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31a +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial stat1 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement DOID:0112230 MONDO:equivalentTo lissencephaly 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 5 MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to card11 deficiency MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps45 deficiency -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome MONDO:0014119 intellectual disability-strabismus syndrome DOID:0081099 MONDO:equivalentTo neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome DOID:0112344 MONDO:equivalentTo hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome DOID:0112321 MONDO:equivalentTo alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alacrima, achalasia, and mental retardation syndrome MONDO:0014226 idiopathic CD4 lymphocytopenia DOID:0111987 MONDO:equivalentTo immunodeficiency 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 13 MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency DOID:0111959 MONDO:equivalentTo immunodeficiency 15B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 15b -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3-gamma deficiency -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd17 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 17 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 17, cd3 gamma deficient -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd16 deficiency MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 20 +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd16 deficiency MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse DOID:0111710 MONDO:equivalentTo focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency @@ -446,78 +394,65 @@ MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome D MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial ifngammar1 deficiency MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial interferon gamma receptor type 1 deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd27b +MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency DOID:0112134 MONDO:equivalentTo severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency DOID:0111934 MONDO:equivalentTo immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 38 MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency DOID:0111934 MONDO:equivalentTo immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete isg15 deficiency MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome -MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar-facial-dental syndrome MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebellar-facial-dental syndrome MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebellofaciodental syndrome +MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar-facial-dental syndrome MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma DOID:0111708 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copa syndrome -MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type DOID:0112281 MONDO:equivalentTo spondyloepiphyseal dysplasia Stanescu type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sedstn -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd42 +MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection DOID:0111975 MONDO:equivalentTo immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd44 +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection DOID:0111975 MONDO:equivalentTo immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 44 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation -MONDO:0014755 skin creases, congenital symmetric circumferential, 2 DOID:0112243 MONDO:equivalentTo congenital symmetric circumferential skin creases 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cscsc2 -MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency +MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency -MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imd46 -MONDO:0014841 trichothiodystrophy 6, nonphotosensitive DOID:0111872 MONDO:equivalentTo nonphotosensitive trichothiodystrophy 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ttd6 MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency DOID:0112129 MONDO:equivalentTo severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency -MONDO:0014874 pontocerebellar hypoplasia, type 2F DOID:0112329 MONDO:equivalentTo pontocerebellar hypoplasia type 2F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch2f MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome DOID:0081008 MONDO:equivalentTo intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome DOID:0081008 MONDO:equivalentTo intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 -MONDO:0014975 autosomal recessive spastic paraplegia type 78 DOID:0112348 MONDO:equivalentTo hereditary spastic paraplegia 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg78 +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 DOID:0080762 MONDO:equivalentTo autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z MONDO:0015008 amelogenesis imperfecta, type 1J DOID:0080953 MONDO:equivalentTo amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, type ij MONDO:0015146 classic lissencephaly DOID:0112237 MONDO:equivalentTo lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 MONDO:0015148 lissencephaly type 3 DOID:0112232 MONDO:equivalentTo lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym da1 -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism +MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 MONDO:0015364 hereditary sensory and autonomic neuropathy DOID:0081075 MONDO:equivalentTo Marsili syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insensitivity to pain MONDO:0015408 diffuse lymphatic malformation DOID:0081031 MONDO:equivalentTo generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type -MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym veods MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome -MONDO:0015903 hyperalphalipoproteinemia DOID:0111369 MONDO:equivalentTo hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halp1 MONDO:0016642 meningioma DOID:0080842 MONDO:equivalentTo intracranial meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma MONDO:0016715 ependymoblastoma DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rgnt MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor MONDO:0017014 interstitial lung disease specific to childhood DOID:0111822 MONDO:equivalentTo CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome +MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to type 10p11.21p12.31 microdeletion MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system MONDO:0017607 caudal regression sequence DOID:0080700 MONDO:equivalentTo caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence @@ -529,37 +464,33 @@ MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations DOID:0081095 M MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor type 2 deficiency MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interferon gamma receptor type 2 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial ifngammar1 deficiency MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial interferon gamma receptor type 1 deficiency +MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency +MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial ifngammar1 deficiency MONDO:0017906 amyloidosis cutis dyschromia DOID:0080932 MONDO:equivalentTo primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica MONDO:0017909 inherited glutathione synthetase deficiency DOID:0080699 MONDO:equivalentTo glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency MONDO:0018018 wild type ATTR amyloidosis DOID:0080937 MONDO:equivalentTo wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrwt amyloidosis MONDO:0018018 wild type ATTR amyloidosis DOID:0080937 MONDO:equivalentTo wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis -MONDO:0018338 activated PI3K-delta syndrome DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apds MONDO:0018338 activated PI3K-delta syndrome DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation MONDO:0018338 activated PI3K-delta syndrome DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) DOID:0081080 MONDO:equivalentTo acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gcgr-related hyperglucagonemia -MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder +MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor MONDO:0018589 AApoAIV amyloidosis DOID:0080927 MONDO:equivalentTo apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis -MONDO:0018590 ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis MONDO:0018590 ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta2-microglobulinic amyloidosis -MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis +MONDO:0018590 ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis -MONDO:0018689 plasma cell leukemia DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcl +MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability DOID:0112025 MONDO:equivalentTo female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0018865 striate palmoplantar keratoderma DOID:0081105 MONDO:equivalentTo keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata MONDO:0018871 acute myelomonocytic leukemia M4 DOID:0081082 MONDO:equivalentTo acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0018922 cold agglutinin disease DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cas MONDO:0018924 microphthalmia, Lenz type DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz microphthalmia +MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder +MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mls -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder MONDO:0018948 multiminicore myopathy DOID:0080991 MONDO:equivalentTo multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 MONDO:equivalentTo autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein s deficiency MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 @@ -570,148 +501,105 @@ MONDO:0019438 AL amyloidosis DOID:0080933 MONDO:equivalentTo immunoglobulin ligh MONDO:0019439 AA amyloidosis DOID:0080936 MONDO:equivalentTo serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary amyloidosis MONDO:0019439 AA amyloidosis DOID:0080936 MONDO:equivalentTo serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aa amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dialysis-related amyloidosis +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ cd56+ hematodermic neoplasm/tumor MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ natural killer cell leukemia MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic natural killer leukemia/lymphoma MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic nk-cell lymphoma MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ cd56+ hematodermic neoplasm/tumor MONDO:0019472 extranodal nasal NK/T cell lymphoma DOID:0080797 MONDO:equivalentTo nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal type extranodal nk/t-cell lymphoma MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b +MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 +MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone resistance MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh receptor inactivation MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh resistance +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh receptor inactivation MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh resistance MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leydig cell hypoplasia due to partial lh resistance MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial lh receptor inactivation MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial luteinizing hormone resistance +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh resistance +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh resistance +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone resistance MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh receptor inactivation +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation MONDO:0019976 dementia pugilistica DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy DOID:0081119 MONDO:equivalentTo benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy MONDO:0020320 acute myeloblastic leukemia with maturation DOID:0081087 MONDO:equivalentTo acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with maturation -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 DOID:0112275 MONDO:equivalentTo developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iecee3 MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 DOID:0112275 MONDO:equivalentTo developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 93 -MONDO:0020716 familial thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tdh1 MONDO:0020716 familial thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b MONDO:0020791 corneal dystrophy, Meesmann, 1 DOID:0080670 MONDO:equivalentTo Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 1 MONDO:0021005 faciodigitogenital syndrome DOID:0111824 MONDO:equivalentTo Aarskog syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome -MONDO:0021115 luminal B breast carcinoma DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym luminal b breast carcinoma MONDO:0021115 luminal B breast carcinoma DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luminal b breast carcinoma +MONDO:0021115 luminal B breast carcinoma DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym luminal b breast carcinoma MONDO:0021232 pineal body neoplasm DOID:0081248 MONDO:equivalentTo pineocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinealoma MONDO:0021441 benign neoplasm of exocrine pancreas DOID:0080781 MONDO:equivalentTo benign exocrine pancreas neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign exocrine pancreas neoplasm -MONDO:0021915 arakawa syndrome 2 DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type MONDO:0021915 arakawa syndrome 2 DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type -MONDO:0022963 desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile astrocytoma +MONDO:0021915 arakawa syndrome 2 DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type MONDO:0022963 desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile astrocytoma -MONDO:0022965 desmoplastic infantile ganglioglioma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma +MONDO:0022963 desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile astrocytoma MONDO:0022965 desmoplastic infantile ganglioglioma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile ganglioglioma -MONDO:0025354 spermatogenic failure, X-linked, 3 DOID:0112274 MONDO:equivalentTo X-linked spermatogenic failure 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spgfx3 -MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 DOID:0112101 MONDO:equivalentTo mitochondrial type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc1dm1 +MONDO:0022965 desmoplastic infantile ganglioglioma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 MONDO:0029138 developmental and epileptic encephalopathy, 67 DOID:0112203 MONDO:equivalentTo developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 67 -MONDO:0029138 developmental and epileptic encephalopathy, 67 DOID:0112203 MONDO:equivalentTo developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee67 MONDO:0030009 alopecia-intellectual disability syndrome 4 DOID:0080950 MONDO:equivalentTo alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-mental retardation syndrome type 4 MONDO:0030054 developmental and epileptic encephalopathy, 86 DOID:0112220 MONDO:equivalentTo developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 86 -MONDO:0030054 developmental and epileptic encephalopathy, 86 DOID:0112220 MONDO:equivalentTo developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee86 -MONDO:0030059 developmental and epileptic encephalopathy, 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee87 MONDO:0030059 developmental and epileptic encephalopathy, 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 MONDO:0030072 developmental and epileptic encephalopathy, 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 -MONDO:0030072 developmental and epileptic encephalopathy, 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee88 -MONDO:0030258 pontocerebellar hypoplasia, type 14 DOID:0112325 MONDO:equivalentTo pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch14 -MONDO:0030259 pontocerebellar hypoplasia, type 15 DOID:0112326 MONDO:equivalentTo pontocerebellar hypoplasia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch15 -MONDO:0030260 pontocerebellar hypoplasia, type 1E DOID:0112330 MONDO:equivalentTo pontocerebellar hypoplasia type 1E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch1e -MONDO:0030261 pontocerebellar hypoplasia, type 1F DOID:0112331 MONDO:equivalentTo pontocerebellar hypoplasia type 1F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch1f -MONDO:0030438 pontocerebellar hypoplasia, type 16 DOID:0112333 MONDO:equivalentTo pontocerebellar hypoplasia type 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch16 -MONDO:0030482 spastic paraplegia 84, autosomal recessive DOID:0112347 MONDO:equivalentTo hereditary spastic paraplegia 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg84 -MONDO:0030512 spastic paraplegia 85, autosomal recessive DOID:0112345 MONDO:equivalentTo hereditary spastic paraplegia 85 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg85 -MONDO:0030673 spastic paraplegia 86, autosomal recessive DOID:0112342 MONDO:equivalentTo hereditary spastic paraplegia 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg86 -MONDO:0030847 arthrogryposis, distal, type 1C DOID:0112190 MONDO:equivalentTo distal arthrogryposis type 1C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym da1c MONDO:0030861 osteogenesis imperfecta, type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 -MONDO:0030861 osteogenesis imperfecta, type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oi21 -MONDO:0030869 spermatogenic failures 50 DOID:0112272 MONDO:equivalentTo spermatogenic failure 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spgf50 MONDO:0030894 AMED syndrome, digenic DOID:0080952 MONDO:equivalentTo AMED syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome -MONDO:0030895 nephrotic syndrome, type 22 DOID:0112268 MONDO:equivalentTo nephrotic syndrome type 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphs22 -MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 -MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof18 MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 -MONDO:0030962 nephrotic syndrome, type 23 DOID:0112266 MONDO:equivalentTo nephrotic syndrome type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nphs23 +MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome +MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis MONDO:0031043 lymphatic malformation 12 DOID:0081030 MONDO:equivalentTo central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly MONDO:0031421 Olmsted syndrome DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0032598 developmental and epileptic encephalopathy, 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee68 MONDO:0032598 developmental and epileptic encephalopathy, 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 -MONDO:0032643 pontocerebellar hypoplasia, type 12 DOID:0112327 MONDO:equivalentTo pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch12 MONDO:0032643 pontocerebellar hypoplasia, type 12 DOID:0112327 MONDO:equivalentTo pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia MONDO:0032657 developmental and epileptic encephalopathy, 69 DOID:0112205 MONDO:equivalentTo developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 69 -MONDO:0032657 developmental and epileptic encephalopathy, 69 DOID:0112205 MONDO:equivalentTo developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee69 -MONDO:0032663 developmental and epileptic encephalopathy, 70 DOID:0112206 MONDO:equivalentTo developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee70 MONDO:0032663 developmental and epileptic encephalopathy, 70 DOID:0112206 MONDO:equivalentTo developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 70 MONDO:0032678 developmental and epileptic encephalopathy, 71 DOID:0112207 MONDO:equivalentTo developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 71 -MONDO:0032678 developmental and epileptic encephalopathy, 71 DOID:0112207 MONDO:equivalentTo developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee71 MONDO:0032710 developmental and epileptic encephalopathy, 72 DOID:0112208 MONDO:equivalentTo developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 72 -MONDO:0032710 developmental and epileptic encephalopathy, 72 DOID:0112208 MONDO:equivalentTo developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee72 -MONDO:0032725 developmental and epileptic encephalopathy, 74 DOID:0112210 MONDO:equivalentTo developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee74 MONDO:0032725 developmental and epileptic encephalopathy, 74 DOID:0112210 MONDO:equivalentTo developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 74 MONDO:0032752 developmental and epileptic encephalopathy, 75 DOID:0112211 MONDO:equivalentTo developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 75 -MONDO:0032752 developmental and epileptic encephalopathy, 75 DOID:0112211 MONDO:equivalentTo developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee75 MONDO:0032768 developmental and epileptic encephalopathy, 76 DOID:0112212 MONDO:equivalentTo developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 -MONDO:0032768 developmental and epileptic encephalopathy, 76 DOID:0112212 MONDO:equivalentTo developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee76 MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity DOID:0111997 MONDO:equivalentTo immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity -MONDO:0032808 developmental and epileptic encephalopathy, 77 DOID:0112213 MONDO:equivalentTo developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee77 MONDO:0032812 developmental and epileptic encephalopathy, 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 -MONDO:0032812 developmental and epileptic encephalopathy, 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee78 MONDO:0032813 developmental and epileptic encephalopathy, 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 -MONDO:0032813 developmental and epileptic encephalopathy, 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee79 -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency MONDO:0032822 developmental and epileptic encephalopathy, 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 -MONDO:0032822 developmental and epileptic encephalopathy, 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee80 -MONDO:0032831 pontocerebellar hypoplasia, type 13 DOID:0112332 MONDO:equivalentTo pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch13 MONDO:0032848 immunodeficiency 65, susceptibility to viral infections DOID:0111978 MONDO:equivalentTo immunodeficiency 65 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections MONDO:0032858 developmental and epileptic encephalopathy, 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 -MONDO:0032858 developmental and epileptic encephalopathy, 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee81 MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement DOID:0112144 MONDO:equivalentTo retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement -MONDO:0032880 developmental and epileptic encephalopathy, 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee82 MONDO:0032880 developmental and epileptic encephalopathy, 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 -MONDO:0032895 developmental and epileptic encephalopathy, 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee83 MONDO:0032895 developmental and epileptic encephalopathy, 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 MONDO:0032904 corneal dystrophy, Meesmann, 2 DOID:0080671 MONDO:equivalentTo Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 MONDO:0032918 developmental and epileptic encephalopathy, 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 -MONDO:0032918 developmental and epileptic encephalopathy, 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee84 MONDO:0033551 immunodeficiency 72 with autoinflammation DOID:0112015 MONDO:equivalentTo immunodeficiency 72 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 72 with autoinflammation -MONDO:0033614 spastic paraplegia 83, autosomal recessive DOID:0112346 MONDO:equivalentTo hereditary spastic paraplegia 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spg83 -MONDO:0033615 coenzyme q10 deficiency, primary, 9 DOID:0112138 MONDO:equivalentTo primary coenzyme Q10 deficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coq10d9 -MONDO:0033657 leukodystrophy, hypomyelinating, 20 DOID:0112153 MONDO:equivalentTo hypomyelinating leukodystrophy 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hld20 MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome DOID:0111952 MONDO:equivalentTo immunodeficiency 57 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune dysregulation-inflammatory bowel disorder-arthritis-recurrent infections-lymphopenia syndrome -MONDO:0034106 developmental and epileptic encephalopathy, 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dee73 MONDO:0034106 developmental and epileptic encephalopathy, 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) DOID:0080645 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); etv6-runx1 MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency @@ -720,37 +608,31 @@ MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chron MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome DOID:0081175 MONDO:equivalentTo short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature, hearing loss, retinitis pigmentosa, and distinctive facies MONDO:0044721 severe combined immunodeficiency due to LAT deficiency DOID:0111983 MONDO:equivalentTo immunodeficiency 52 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lat deficiency MONDO:0044725 combined immunodeficiency due to GINS1 deficiency DOID:0111993 MONDO:equivalentTo immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive complex spg due to kennedy pathway dysfunction +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 5, multiple types MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types -MONDO:0054669 pontocerebellar hypoplasia, type 11 DOID:0112324 MONDO:equivalentTo pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pch11 MONDO:0054697 immunodeficiency 11b with atopic dermatitis DOID:0111958 MONDO:equivalentTo immunodeficiency 11B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder +MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder MONDO:0100112 acyl-CoA binding domain containing protein 5 deficiency DOID:0080946 MONDO:equivalentTo retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acbd5 deficiency -MONDO:0100189 apolipoprotein A-I deficiency DOID:0080957 MONDO:equivalentTo primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hypoalphalipoproteinemia MONDO:0100189 apolipoprotein A-I deficiency DOID:0080958 MONDO:equivalentTo primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency +MONDO:0100189 apolipoprotein A-I deficiency DOID:0080957 MONDO:equivalentTo primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hypoalphalipoproteinemia MONDO:0100222 A20 haploinsufficiency DOID:0080944 MONDO:equivalentTo familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym a20 haploinsufficiency -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 DOID:0112074 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc1dn1 MONDO:0100233 long COVID-19 DOID:0080848 MONDO:equivalentTo long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-acute sequelae of sars-cov-2 infection -MONDO:0100233 long COVID-19 DOID:0080848 MONDO:equivalentTo long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pasc MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques MONDO:0100296 Olmsted syndrome 1 DOID:0112013 MONDO:equivalentTo autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 -MONDO:0100452 RPE65-related dominant retinopathy DOID:0112144 MONDO:equivalentTo retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rp87 +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v +MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency +MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency MONDO:0800025 Teebi hypertelorism syndrome 1 DOID:0081073 MONDO:equivalentTo Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia -MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 DOID:0060204 MONDO:equivalentTo amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym als13 -MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 DOID:0070020 MONDO:equivalentTo autosomal dominant dyskeratosis congenita 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dkca4 MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 DOID:0081072 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index eb2ab997..e7088dd6 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -3,6 +3,7 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000087 polymicrogyria DOID:0080918 MONDO:equivalentTo polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria MONDO:0000136 keratosis follicularis spinulosa decalvans DOID:0080753 MONDO:equivalentTo keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans MONDO:0000141 mosaic variegated aneuploidy syndrome DOID:0080688 MONDO:equivalentTo mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome +MONDO:0004649 anaerobic pneumonia DOID:873 MONDO:equivalentTo anaerobic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaerobic pneumonia MONDO:0004947 B-cell acute lymphoblastic leukemia DOID:0080638 MONDO:equivalentTo B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell acute lymphoblastic leukemia MONDO:0005013 dedifferentiated chondrosarcoma DOID:0081247 MONDO:equivalentTo dedifferentiated chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated chondrosarcoma MONDO:0005223 acute myeloid leukemia with minimal differentiation DOID:0081085 MONDO:equivalentTo acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation diff --git a/src/ontology/lexmatch/unmapped_icd_lex.tsv b/src/ontology/lexmatch/unmapped_icd_lex.tsv index a405a1f7..01cf2e5b 100644 --- a/src/ontology/lexmatch/unmapped_icd_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd_lex.tsv @@ -6,17 +6,17 @@ MONDO:0000129 glutaric aciduria ICD10CM:E72.3 MONDO:equivalentTo Disorders of ly MONDO:0000153 transposition of the great arteries ICD10CM:Q20.3 MONDO:equivalentTo Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transposition of great vessels MONDO:0000156 trigonocephaly ICD10CM:Q75.0 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trigonocephaly MONDO:0000156 trigonocephaly ICD10CM:Q75.0 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trigonocephaly -MONDO:0000239 adiaspiromycosis ICD10CM:B48.8 MONDO:equivalentTo Other specified mycoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adiaspiromycosis MONDO:0000239 adiaspiromycosis ICD10CM:B48.8 MONDO:equivalentTo Other specified mycoses semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adiaspiromycosis +MONDO:0000239 adiaspiromycosis ICD10CM:B48.8 MONDO:equivalentTo Other specified mycoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adiaspiromycosis MONDO:0000241 Keshan disease ICD10CM:E59 MONDO:equivalentTo Dietary selenium deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keshan disorder -MONDO:0000265 aspiration pneumonia ICD10CM:J69.0 MONDO:equivalentTo Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspiration pneumonia MONDO:0000265 aspiration pneumonia ICD10CM:J69.0 MONDO:equivalentTo Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspiration pneumonia +MONDO:0000265 aspiration pneumonia ICD10CM:J69.0 MONDO:equivalentTo Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspiration pneumonia MONDO:0000290 primary amebic meningoencephalitis ICD10CM:B60.2 MONDO:equivalentTo Naegleriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary amebic meningoencephalitis -MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis +MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis MONDO:0000295 acanthocephaliasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthocephaliasis -MONDO:0000299 thelaziasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thelaziasis MONDO:0000299 thelaziasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thelaziasis +MONDO:0000299 thelaziasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thelaziasis MONDO:0000327 Buruli ulcer disease ICD10CM:A31.1 MONDO:equivalentTo Cutaneous mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buruli ulcer MONDO:0000337 exanthema subitum ICD10CM:B08.2 MONDO:equivalentTo Exanthema subitum [sixth disease] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthema subitum MONDO:0000344 Ross river fever ICD10CM:B33.1 MONDO:equivalentTo Ross River disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ross river fever @@ -48,44 +48,44 @@ MONDO:0000845 fibrous dysplasia ICD10CM:M85.0 MONDO:equivalentTo Fibrous dysplas MONDO:0000888 gastrointestinal mucositis ICD10CM:K92.81 MONDO:equivalentTo Gastrointestinal mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gastrointestinal mucositis MONDO:0000919 ampulla of vater cancer ICD10CM:C24.1 MONDO:equivalentTo Malignant neoplasm of ampulla of Vater semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ampulla of vater MONDO:0000920 duodenum cancer ICD10CM:C17.0 MONDO:equivalentTo Malignant neoplasm of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of duodenum -MONDO:0000945 venous insufficiency ICD10CM:I87.2 MONDO:equivalentTo Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous insufficiency MONDO:0000945 venous insufficiency ICD10CM:I87.2 MONDO:equivalentTo Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym venous insufficiency +MONDO:0000945 venous insufficiency ICD10CM:I87.2 MONDO:equivalentTo Venous insufficiency (chronic) (peripheral) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous insufficiency MONDO:0000946 psychologic vaginismus ICD10CM:F52.5 MONDO:equivalentTo Vaginismus not due to a substance or known physiological condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psychogenic vaginismus MONDO:0000950 asthenopia ICD10CM:H53.14 MONDO:equivalentTo Visual discomfort semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asthenopia MONDO:0000955 ileum cancer ICD10CM:C17.2 MONDO:equivalentTo Malignant neoplasm of ileum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ileum MONDO:0000956 small intestine cancer ICD10CM:C17 MONDO:equivalentTo Malignant neoplasm of small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of small intestine MONDO:0000957 lacrimal passage granuloma ICD10CM:H04.81 MONDO:equivalentTo Granuloma of lacrimal passages semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granuloma of lacrimal passages -MONDO:0000979 pinta disease ICD10CM:A67 MONDO:equivalentTo Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pinta MONDO:0000979 pinta disease ICD10CM:A67 MONDO:equivalentTo Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinta +MONDO:0000979 pinta disease ICD10CM:A67 MONDO:equivalentTo Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pinta MONDO:0000980 aortic atherosclerosis ICD10CM:I70.0 MONDO:equivalentTo Atherosclerosis of aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atherosclerosis of aorta MONDO:0000984 thalassemia ICD10CM:D57.40 MONDO:equivalentTo Sickle-cell thalassemia without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell thalassemia without crisis MONDO:0000990 acute subendocardial myocardial infarction ICD10CM:I21.4 MONDO:equivalentTo Non-ST elevation (NSTEMI) myocardial infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute subendocardial myocardial infarction -MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial periodic paralysis MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial periodic paralysis +MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial periodic paralysis MONDO:0001016 epididymis cancer ICD10CM:C63.0 MONDO:equivalentTo Malignant neoplasm of epididymis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of epididymis MONDO:0001019 suppression amblyopia ICD10CM:H53.03 MONDO:equivalentTo Strabismic amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label strabismic amblyopia MONDO:0001021 ametropic amblyopia ICD10CM:H53.02 MONDO:equivalentTo Refractive amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractive amblyopia MONDO:0001022 disuse amblyopia ICD10CM:H53.01 MONDO:equivalentTo Deprivation amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deprivation amblyopia MONDO:0001031 purulent acute otitis media ICD10CM:H66.0 MONDO:equivalentTo Acute suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute suppurative otitis media MONDO:0001040 nasopharyngitis ICD10CM:J31.1 MONDO:equivalentTo Chronic nasopharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic nasopharyngitis -MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym imperforate anus MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imperforate anus -MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pylorus +MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym imperforate anus MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of prepylorus +MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pylorus MONDO:0001062 pyloric antrum cancer ICD10CM:C16.3 MONDO:equivalentTo Malignant neoplasm of pyloric antrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pyloric antrum MONDO:0001065 supine hypotensive syndrome ICD10CM:O26.5 MONDO:equivalentTo Maternal hypotension syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supine hypotensive syndrome -MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer -MONDO:0001067 early yaws ICD10CM:A66.2 MONDO:equivalentTo Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws +MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frambesia, initial or primary MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label initial lesions of yaws +MONDO:0001067 early yaws ICD10CM:A66.2 MONDO:equivalentTo Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws MONDO:0001087 schizotypal personality disorder ICD10CM:F21 MONDO:equivalentTo Schizotypal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizotypal personality disorder MONDO:0001099 lactocele ICD10CM:N64.89 MONDO:equivalentTo Other specified disorders of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactocele MONDO:0001103 giardiasis ICD10CM:A07.1 MONDO:equivalentTo Giardiasis [lambliasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giardiasis MONDO:0001104 toxic diffuse goiter ICD10CM:E05.0 MONDO:equivalentTo Thyrotoxicosis with diffuse goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxic diffuse goiter MONDO:0001106 kidney failure ICD10CM:N28.9 MONDO:equivalentTo Disorder of kidney and ureter, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal insufficiency -MONDO:0001109 petrositis ICD10CM:H70.22 MONDO:equivalentTo Chronic petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic petrositis MONDO:0001109 petrositis ICD10CM:H70.21 MONDO:equivalentTo Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis +MONDO:0001109 petrositis ICD10CM:H70.22 MONDO:equivalentTo Chronic petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic petrositis MONDO:0001110 chronic pyelonephritis ICD10CM:N11 MONDO:equivalentTo Chronic tubulo-interstitial nephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic pyelonephritis MONDO:0001115 familial polycythemia ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia MONDO:0001115 familial polycythemia ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial polycythemia @@ -93,25 +93,25 @@ MONDO:0001116 mesenteric lymphadenitis ICD10CM:I88.0 MONDO:equivalentTo Nonspeci MONDO:0001116 mesenteric lymphadenitis ICD10CM:I88.0 MONDO:equivalentTo Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesenteric lymphadenitis MONDO:0001118 Queensland tick typhus ICD10CM:A77.3 MONDO:equivalentTo Spotted fever due to Rickettsia australis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym queensland tick typhus MONDO:0001128 nasal cavity cancer ICD10CM:C30.0 MONDO:equivalentTo Malignant neoplasm of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasal cavity -MONDO:0001147 meningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningocele MONDO:0001147 meningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningocele -MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym north asian tick fever +MONDO:0001147 meningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningocele MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym siberian tick typhus +MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym north asian tick fever MONDO:0001155 gastrojejunal ulcer ICD10CM:K28.1 MONDO:equivalentTo Acute gastrojejunal ulcer with perforation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute gastrojejunal ulcer with perforation MONDO:0001166 nephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephritis MONDO:0001168 spastic hemiplegia ICD10CM:G80.2 MONDO:equivalentTo Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic hemiplegic cerebral palsy MONDO:0001171 acute salpingo-oophoritis ICD10CM:N70.03 MONDO:equivalentTo Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis MONDO:0001171 acute salpingo-oophoritis ICD10CM:N70.0 MONDO:equivalentTo Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis +MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salpingo-oophoritis MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian abscess -MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder MONDO:0001174 conjunctival vascular disorder ICD10CM:H11.41 MONDO:equivalentTo Vascular abnormalities of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular abnormalities of conjunctiva MONDO:0001175 immature cataract ICD10CM:H25.09 MONDO:equivalentTo Other age-related incipient cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water clefts MONDO:0001187 urinary bladder cancer ICD10CM:C67 MONDO:equivalentTo Malignant neoplasm of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of bladder MONDO:0001198 acquired thrombocytopenia ICD10CM:D69.5 MONDO:equivalentTo Secondary thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary thrombocytopenia -MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common wart MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym common wart MONDO:0001209 common wart ICD10CM:B07 MONDO:equivalentTo Viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym verruca vulgaris +MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common wart MONDO:0001212 non-suppurative otitis media ICD10CM:H65 MONDO:equivalentTo Nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonsuppurative otitis media MONDO:0001213 serous glue ear ICD10CM:H65.2 MONDO:equivalentTo Chronic serous otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic serous otitis media MONDO:0001219 serous conjunctivitis except viral ICD10CM:H10.23 MONDO:equivalentTo Serous conjunctivitis, except viral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous conjunctivitis, except viral @@ -151,8 +151,8 @@ MONDO:0001378 urachus cancer ICD10CM:C67.7 MONDO:equivalentTo Malignant neoplasm MONDO:0001388 glans penis cancer ICD10CM:C60.1 MONDO:equivalentTo Malignant neoplasm of glans penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of glans penis MONDO:0001398 ureter benign neoplasm ICD10CM:D30.2 MONDO:equivalentTo Benign neoplasm of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of ureter MONDO:0001402 vaginal cancer ICD10CM:C52 MONDO:equivalentTo Malignant neoplasm of vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vagina -MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopoikilosis MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteopoikilosis +MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopoikilosis MONDO:0001422 primary aldosteronism ICD10CM:E26.01 MONDO:equivalentTo Conn's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conns syndrome MONDO:0001429 transient arthropathy ICD10CM:M12.8 MONDO:equivalentTo Other specific arthropathies, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient arthropathy MONDO:0001430 deep corneal vascularisation ICD10CM:H16.44 MONDO:equivalentTo Deep vascularization of cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep vascularization of cornea @@ -170,8 +170,8 @@ MONDO:0001468 synovial plica syndrome ICD10CM:M67.5 MONDO:equivalentTo Plica syn MONDO:0001470 anal margin squamous cell carcinoma ICD10CM:C44.520 MONDO:equivalentTo Squamous cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym squamous cell carcinoma of anal margin MONDO:0001474 chronic salpingo-oophoritis ICD10CM:N70.13 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic salpingitis and oophoritis MONDO:0001474 chronic salpingo-oophoritis ICD10CM:N70.1 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic salpingitis and oophoritis -MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of undescended testis MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of retained testis +MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of undescended testis MONDO:0001481 femoral vein thrombophlebitis ICD10CM:I80.1 MONDO:equivalentTo Phlebitis and thrombophlebitis of femoral vein semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phlebitis and thrombophlebitis of femoral vein MONDO:0001485 atypical depressive disorder ICD10CM:F32.89 MONDO:equivalentTo Other specified depressive episodes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical depression MONDO:0001488 anterior corneal pigmentation ICD10CM:H18.01 MONDO:equivalentTo Anterior corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anterior corneal pigmentations @@ -185,12 +185,12 @@ MONDO:0001552 dyscalculia ICD10CM:F81.2 MONDO:equivalentTo Mathematics disorder MONDO:0001555 neonatal thyrotoxicosis ICD10CM:P72.1 MONDO:equivalentTo Transitory neonatal hyperthyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal thyrotoxicosis MONDO:0001588 chronic lacrimal gland enlargement ICD10CM:H04.03 MONDO:equivalentTo Chronic enlargement of lacrimal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic enlargement of lacrimal gland MONDO:0001594 Achilles bursitis ICD10CM:M76.6 MONDO:equivalentTo Achilles tendinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achilles bursitis -MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland -MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shipyard eye +MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidemic keratoconjunctivitis -MONDO:0001653 prepuce cancer ICD10CM:C60.0 MONDO:equivalentTo Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce +MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shipyard eye MONDO:0001653 prepuce cancer ICD10CM:C60.0 MONDO:equivalentTo Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of foreskin +MONDO:0001653 prepuce cancer ICD10CM:C60.0 MONDO:equivalentTo Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce MONDO:0001654 spermatic cord cancer ICD10CM:C63.1 MONDO:equivalentTo Malignant neoplasm of spermatic cord semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spermatic cord MONDO:0001657 brain cancer ICD10CM:C71 MONDO:equivalentTo Malignant neoplasm of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain MONDO:0001676 erythropoietic protoporphyria ICD10CM:E80.0 MONDO:equivalentTo Hereditary erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythropoietic protoporphyria @@ -231,17 +231,17 @@ MONDO:0001878 acquired hypertrophic pyloric stenosis ICD10CM:K31.1 MONDO:equival MONDO:0001887 Allen-Masters syndrome ICD10CM:N83.8 MONDO:equivalentTo Other noninflammatory disorders of ovary, fallopian tube and broad ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad ligament laceration syndrome MONDO:0001907 adult dermatomyositis ICD10CM:M33.1 MONDO:equivalentTo Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis MONDO:0001910 ochronosis disorder ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochronosis -MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic atticoantral suppurative otitis media -MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis +MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis +MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis MONDO:0001929 ascending cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ascending cholangitis MONDO:0001929 ascending cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ascending cholangitis MONDO:0001935 neurogenic arthropathy ICD10CM:M14.6 MONDO:equivalentTo Charcôt's joint semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathic arthropathy MONDO:0001938 vulvar dystrophy ICD10CM:N90.4 MONDO:equivalentTo Leukoplakia of vulva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of vulva MONDO:0001945 postencephalitic Parkinson disease ICD10CM:G21.3 MONDO:equivalentTo Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism -MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis +MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis MONDO:0001955 protozoal dysentery ICD10CM:A07.9 MONDO:equivalentTo Protozoal intestinal disease, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protozoal dysentery MONDO:0001966 chronic closed-angle glaucoma ICD10CM:H40.22 MONDO:equivalentTo Chronic angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic angle-closure glaucoma MONDO:0001971 farmer's lung disease ICD10CM:J67.0 MONDO:equivalentTo Farmer's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farmers lung @@ -250,29 +250,29 @@ MONDO:0001982 Niemann-Pick disease ICD10CM:E75.248 MONDO:equivalentTo Other Niem MONDO:0001984 candidal paronychia ICD10CM:B37.2 MONDO:equivalentTo Candidiasis of skin and nail semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym candidal paronychia MONDO:0002033 cecum cancer ICD10CM:C18.0 MONDO:equivalentTo Malignant neoplasm of cecum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cecum MONDO:0002043 ectropion ICD10CM:H02.1 MONDO:equivalentTo Ectropion of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectropion of eyelid +MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphadenitis MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenitis MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphadenitis -MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphadenitis MONDO:0002056 breast fibroadenoma ICD10CM:D24 MONDO:equivalentTo Benign neoplasm of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibroadenoma of breast -MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome -MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial retinal vein occlusion +MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion +MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial retinal vein occlusion MONDO:0002108 thyroid cancer ICD10CM:C73 MONDO:equivalentTo Malignant neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thyroid gland MONDO:0002109 pituitary cancer ICD10CM:C75.1 MONDO:equivalentTo Malignant neoplasm of pituitary gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pituitary gland MONDO:0002152 intermittent squint ICD10CM:H50.3 MONDO:equivalentTo Intermittent heterotropia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent heterotropia -MONDO:0002158 fallopian tube cancer ICD10CM:C57.0 MONDO:equivalentTo Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube MONDO:0002158 fallopian tube cancer ICD10CM:C57.0 MONDO:equivalentTo Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of fallopian tube +MONDO:0002158 fallopian tube cancer ICD10CM:C57.0 MONDO:equivalentTo Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube MONDO:0002164 focal chorioretinitis ICD10CM:H30.0 MONDO:equivalentTo Focal chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym focal chorioretinitis MONDO:0002178 placenta cancer ICD10CM:C58 MONDO:equivalentTo Malignant neoplasm of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of placenta +MONDO:0002181 exostosis ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exostosis MONDO:0002181 exostosis ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exostosis MONDO:0002181 exostosis ICD10CM:M25.7 MONDO:equivalentTo Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte -MONDO:0002181 exostosis ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exostosis MONDO:0002185 hyperostosis ICD10CM:M89.3 MONDO:equivalentTo Hypertrophy of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophy of bone MONDO:0002212 pneumonic tularemia ICD10CM:A21.2 MONDO:equivalentTo Pulmonary tularemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary tularemia MONDO:0002238 ascending colon cancer ICD10CM:C18.2 MONDO:equivalentTo Malignant neoplasm of ascending colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ascending colon -MONDO:0002246 perichondritis of auricle ICD10CM:H61.0 MONDO:equivalentTo Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perichondritis of pinna MONDO:0002246 perichondritis of auricle ICD10CM:H61.0 MONDO:equivalentTo Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perichondritis of auricle +MONDO:0002246 perichondritis of auricle ICD10CM:H61.0 MONDO:equivalentTo Chondritis and perichondritis of external ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perichondritis of pinna MONDO:0002268 dyspepsia ICD10CM:K30 MONDO:equivalentTo Functional dyspepsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indigestion MONDO:0002282 West Nile fever ICD10CM:A92.3 MONDO:equivalentTo West Nile virus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym west nile fever MONDO:0002290 clitoris cancer ICD10CM:C51.2 MONDO:equivalentTo Malignant neoplasm of clitoris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of clitoris @@ -292,14 +292,14 @@ MONDO:0002378 dermoid cyst ICD10CM:K09.8 MONDO:equivalentTo Other cysts of oral MONDO:0002407 capillary hemangioma ICD10CM:Q82.5 MONDO:equivalentTo Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strawberry nevus MONDO:0002412 disorder of glycogen metabolism ICD10CM:E74.09 MONDO:equivalentTo Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder MONDO:0002429 idiopathic interstitial pneumonia ICD10CM:J84.112 MONDO:equivalentTo Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic fibrosing alveolitis -MONDO:0002438 acquired polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secondary polycythemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired polycythemia MONDO:0002438 acquired polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired polycythemia +MONDO:0002438 acquired polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secondary polycythemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired polycythemia MONDO:0002440 erythropoietin polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrogenous polycythemia MONDO:0002443 bruxism ICD10CM:G47.63 MONDO:equivalentTo Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism MONDO:0002443 bruxism ICD10CM:F45.8 MONDO:equivalentTo Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding MONDO:0002457 Treacher-Collins syndrome ICD10CM:Q75.4 MONDO:equivalentTo Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome -MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis +MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis MONDO:0002492 acute kidney failure ICD10CM:N17.9 MONDO:equivalentTo Acute kidney failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute kidney injury @@ -331,8 +331,8 @@ MONDO:0003072 retinal cancer ICD10CM:C69.2 MONDO:equivalentTo Malignant neoplasm MONDO:0003210 intrahepatic cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrahepatic bile duct carcinoma MONDO:0003249 pineal gland cancer ICD10CM:C75.3 MONDO:equivalentTo Malignant neoplasm of pineal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pineal gland MONDO:0003274 thoracic cancer ICD10CM:C76.1 MONDO:equivalentTo Malignant neoplasm of thorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thorax -MONDO:0003275 middle ear cancer ICD10CM:C30.1 MONDO:equivalentTo Malignant neoplasm of middle ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of middle ear MONDO:0003275 middle ear cancer ICD10CM:C30-C39 MONDO:equivalentTo Malignant neoplasms of respiratory and intrathoracic organs (C30-C39) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of middle ear +MONDO:0003275 middle ear cancer ICD10CM:C30.1 MONDO:equivalentTo Malignant neoplasm of middle ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of middle ear MONDO:0003308 pleural mesothelioma ICD10CM:C45.0 MONDO:equivalentTo Mesothelioma of pleura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of pleura MONDO:0003454 conjunctival cancer ICD10CM:C69.0 MONDO:equivalentTo Malignant neoplasm of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of conjunctiva MONDO:0003542 dental pulp calcification ICD10CM:K04.2 MONDO:equivalentTo Pulp degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulpal calcifications @@ -352,8 +352,8 @@ MONDO:0004177 benign urethral neoplasm ICD10CM:D30.4 MONDO:equivalentTo Benign n MONDO:0004241 Osgood-Schlatter disease ICD10CM:M92.52 MONDO:equivalentTo Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osgood-schlatter disorder MONDO:0004241 Osgood-Schlatter disease ICD10CM:M92.52 MONDO:equivalentTo Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osgood-schlatter disorder MONDO:0004272 urinary bladder tuberculosis ICD10CM:A18.12 MONDO:equivalentTo Tuberculosis of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of bladder -MONDO:0004375 end stage renal failure ICD10CM:N18.6 MONDO:equivalentTo End stage renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label end stage renal disorder MONDO:0004375 end stage renal failure ICD10CM:N18.5 MONDO:equivalentTo Chronic kidney disease, stage 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic kidney disorder, stage type 5 +MONDO:0004375 end stage renal failure ICD10CM:N18.6 MONDO:equivalentTo End stage renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label end stage renal disorder MONDO:0004390 ocular hypotension ICD10CM:H44.4 MONDO:equivalentTo Hypotony of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotony of eye MONDO:0004450 carotid artery occlusion ICD10CM:I65.2 MONDO:equivalentTo Occlusion and stenosis of carotid artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label occlusion and stenosis of carotid artery MONDO:0004471 bacterial arthritis ICD10CM:M00 MONDO:equivalentTo Pyogenic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyogenic arthritis @@ -361,11 +361,11 @@ MONDO:0004497 tertiary syphilis ICD10CM:A52 MONDO:equivalentTo Late syphilis sem MONDO:0004522 peritonitis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retractile mesenteritis MONDO:0004549 cork-handlers' disease ICD10CM:J67.3 MONDO:equivalentTo Suberosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label suberosis MONDO:0004566 postgastrectomy syndrome ICD10CM:K91.1 MONDO:equivalentTo Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postgastrectomy syndrome -MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ariboflavinosis MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riboflavin deficiency +MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ariboflavinosis MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency -MONDO:0004582 rheumatic myocarditis ICD10CM:M05.3 MONDO:equivalentTo Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis +MONDO:0004582 rheumatic myocarditis ICD10CM:M05.3 MONDO:equivalentTo Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis MONDO:0004584 maple bark strippers' lung ICD10CM:J67.6 MONDO:equivalentTo Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD10CM:C81.4 MONDO:equivalentTo Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma @@ -374,19 +374,19 @@ MONDO:0004608 oropharynx cancer ICD10CM:C10.8 MONDO:equivalentTo Malignant neopl MONDO:0004608 oropharynx cancer ICD10CM:C10.3 MONDO:equivalentTo Malignant neoplasm of posterior wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of oropharynx MONDO:0004614 chronic monocytic leukemia ICD10CM:C93.1 MONDO:equivalentTo Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic monocytic leukemia MONDO:0004618 diplegia of upper limb ICD10CM:G83.0 MONDO:equivalentTo Diplegia of upper limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diplegia of upper limbs -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma -MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer -MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pressure ulcer +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym decubitus ulcer +MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pressure ulcer +MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer MONDO:0004652 bacterial pneumonia ICD10CM:J15.6 MONDO:equivalentTo Pneumonia due to other Gram-negative bacteria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to other gram-negative bacteria MONDO:0004657 disseminated chorioretinitis ICD10CM:H30.1 MONDO:equivalentTo Disseminated chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated chorioretinitis MONDO:0004658 breast carcinoma in situ ICD10CM:D05 MONDO:equivalentTo Carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of breast MONDO:0004659 eye carcinoma in situ ICD10CM:D09.2 MONDO:equivalentTo Carcinoma in situ of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of eye MONDO:0004662 heterophyiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heterophyiasis MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma -MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma MONDO:0004666 metagonimiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metagonimiasis MONDO:0004667 sublingual gland cancer ICD10CM:C08.1 MONDO:equivalentTo Malignant neoplasm of sublingual gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of sublingual gland MONDO:0004671 penis carcinoma in situ ICD10CM:D07.4 MONDO:equivalentTo Carcinoma in situ of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of penis @@ -424,21 +424,21 @@ MONDO:0004952 Hodgkins lymphoma ICD10CM:C81 MONDO:equivalentTo Hodgkin lymphoma MONDO:0004967 acute lymphoblastic leukemia ICD10CM:C91.0 MONDO:equivalentTo Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia MONDO:0004969 acute quadriplegic myopathy ICD10CM:G72.81 MONDO:equivalentTo Critical illness myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute quadriplegic myopathy MONDO:0004975 Alzheimer disease ICD10CM:G30.8 MONDO:equivalentTo Other Alzheimer's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder -MONDO:0004980 atopic eczema ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besniers prurigo MONDO:0004980 atopic eczema ICD10CM:L20.81 MONDO:equivalentTo Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis MONDO:0004980 atopic eczema ICD10CM:L20 MONDO:equivalentTo Atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic dermatitis +MONDO:0004980 atopic eczema ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besniers prurigo MONDO:0005002 chronic obstructive pulmonary disease ICD10CM:J44 MONDO:equivalentTo Other chronic obstructive pulmonary disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic obstructive pulmonary disorder MONDO:0005009 congestive heart failure ICD10CM:I50.9 MONDO:equivalentTo Heart failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congestive heart disorder -MONDO:0005011 Crohn disease ICD10CM:K50.1 MONDO:equivalentTo Crohn's disease of large intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous colitis -MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohns disorder MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crohns disorder +MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohns disorder +MONDO:0005011 Crohn disease ICD10CM:K50.1 MONDO:equivalentTo Crohn's disease of large intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous colitis MONDO:0005012 cutaneous melanoma ICD10CM:C43 MONDO:equivalentTo Malignant melanoma of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant melanoma of skin MONDO:0005029 essential thrombocythemia ICD10CM:D47.3 MONDO:equivalentTo Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential thrombocytosis MONDO:0005029 essential thrombocythemia ICD10CM:D47.3 MONDO:equivalentTo Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary thrombocytosis MONDO:0005044 hypertensive disorder ICD10CM:I10 MONDO:equivalentTo Essential (primary) hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym high blood pressure -MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.5 MONDO:equivalentTo Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.2 MONDO:equivalentTo Kaposi's sarcoma of palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of palate MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.1 MONDO:equivalentTo Kaposi's sarcoma of soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of soft tissue +MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.5 MONDO:equivalentTo Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung MONDO:0005077 pertussis ICD10CM:A37 MONDO:equivalentTo Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough MONDO:0005078 phyllodes tumor ICD10CM:D48.6 MONDO:equivalentTo Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes MONDO:0005081 preeclampsia ICD10CM:O14 MONDO:equivalentTo Pre-eclampsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pre-eclampsia @@ -446,12 +446,12 @@ MONDO:0005100 systemic sclerosis ICD10CM:M34 MONDO:equivalentTo Systemic scleros MONDO:0005100 systemic sclerosis ICD10CM:M34.0 MONDO:equivalentTo Progressive systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive systemic sclerosis MONDO:0005119 anthrax infection ICD10CM:A22 MONDO:equivalentTo Anthrax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anthrax MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder -MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-traumatic stress disorder +MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis MONDO:0005150 age-related macular degeneration ICD10CM:H35.30 MONDO:equivalentTo Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration MONDO:0005150 age-related macular degeneration ICD10CM:H35.30 MONDO:equivalentTo Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym age-related macular degeneration -MONDO:0005160 aortic aneurysm ICD10CM:I71.1 MONDO:equivalentTo Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured MONDO:0005160 aortic aneurysm ICD10CM:I71.5 MONDO:equivalentTo Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured +MONDO:0005160 aortic aneurysm ICD10CM:I71.1 MONDO:equivalentTo Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured MONDO:0005160 aortic aneurysm ICD10CM:I71.8 MONDO:equivalentTo Aortic aneurysm of unspecified site, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm of unspecified site, ruptured MONDO:0005160 aortic aneurysm ICD10CM:I71.3 MONDO:equivalentTo Abdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abdominal aortic aneurysm, ruptured MONDO:0005180 Parkinson disease ICD10CM:G20 MONDO:equivalentTo Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkinsons disorder @@ -460,21 +460,20 @@ MONDO:0005187 human herpesvirus 8 infection ICD10CM:B10.89 MONDO:equivalentTo Ot MONDO:0005187 human herpesvirus 8 infection ICD10CM:B10.89 MONDO:equivalentTo Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym human herpesvirus type 8 infection MONDO:0005193 prostate intraepithelial neoplasia ICD10CM:N42.31 MONDO:equivalentTo Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin MONDO:0005193 prostate intraepithelial neoplasia ICD10CM:N42.31 MONDO:equivalentTo Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic intraepithelial neoplasia +MONDO:0005219 breast fibrocystic disease ICD10CM:N60 MONDO:equivalentTo Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy MONDO:0005219 breast fibrocystic disease ICD10CM:N60.1 MONDO:equivalentTo Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy MONDO:0005219 breast fibrocystic disease ICD10CM:N60.1 MONDO:equivalentTo Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic disorder of breast -MONDO:0005219 breast fibrocystic disease ICD10CM:N60 MONDO:equivalentTo Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy MONDO:0005224 acute myeloblastic leukemia without maturation ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m1 -MONDO:0005227 abscess ICD10CM:N34.0 MONDO:equivalentTo Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess MONDO:0005227 abscess ICD10CM:G06.1 MONDO:equivalentTo Intraspinal abscess and granuloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess +MONDO:0005227 abscess ICD10CM:N34.0 MONDO:equivalentTo Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess MONDO:0005242 empyema ICD10CM:J86.9 MONDO:equivalentTo Pyothorax without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym empyema MONDO:0005246 osteomyelitis ICD10CM:M27.2 MONDO:equivalentTo Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteomyelitis MONDO:0005246 osteomyelitis ICD10CM:M27.2 MONDO:equivalentTo Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteomyelitis -MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder MONDO:0005258 autism spectrum disorder ICD10CM:F84 MONDO:equivalentTo Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder -MONDO:0005260 autism ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome +MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder MONDO:0005260 autism ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile autism -MONDO:0005264 transient ischemic attack ICD10CM:G45.9 MONDO:equivalentTo Transient cerebral ischemic attack, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tia +MONDO:0005260 autism ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome MONDO:0005277 migraine disorder ICD10CM:G43 MONDO:equivalentTo Migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label migraine MONDO:0005293 flatfoot ICD10CM:M21.4 MONDO:equivalentTo Flat foot [pes planus] (acquired) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym flat foot MONDO:0005295 intermittent vascular claudication ICD10CM:I73.9 MONDO:equivalentTo Peripheral vascular disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intermittent claudication @@ -485,14 +484,13 @@ MONDO:0005324 seasonal allergic rhinitis ICD10CM:J30.1 MONDO:equivalentTo Allerg MONDO:0005338 open-angle glaucoma ICD10CM:H40.13 MONDO:equivalentTo Pigmentary glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary glaucoma MONDO:0005348 keloid ICD10CM:L91.0 MONDO:equivalentTo Hypertrophic scar semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keloid MONDO:0005357 Creutzfeldt Jacob disease ICD10CM:A81.09 MONDO:equivalentTo Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute spongiform encephalopathy -MONDO:0005357 Creutzfeldt Jacob disease ICD10CM:A81.09 MONDO:equivalentTo Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cjd MONDO:0005362 erectile dysfunction ICD10CM:F52.21 MONDO:equivalentTo Male erectile disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label male erectile disorder -MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis deformans MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteitis deformans +MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis deformans MONDO:0005383 panic disorder ICD10CM:F41.0 MONDO:equivalentTo Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panic disorder -MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis -MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary biliary cholangitis MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nonsuppurative destructive cholangitis +MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary biliary cholangitis +MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome ICD10CM:G93.3 MONDO:equivalentTo Postviral fatigue syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postviral fatigue syndrome MONDO:0005406 gestational diabetes ICD10CM:O24.4 MONDO:equivalentTo Gestational diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational diabetes mellitus MONDO:0005411 gallbladder cancer ICD10CM:C23 MONDO:equivalentTo Malignant neoplasm of gallbladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gallbladder @@ -503,8 +501,8 @@ MONDO:0005464 rhegmatogenous retinal detachment ICD10CM:H33.0 MONDO:equivalentTo MONDO:0005468 hypotensive disorder ICD10CM:I95 MONDO:equivalentTo Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension MONDO:0005486 tooth agenesis ICD10CM:K00.0 MONDO:equivalentTo Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia MONDO:0005486 tooth agenesis ICD10CM:K00.0 MONDO:equivalentTo Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodontia -MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever +MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever MONDO:0005507 gingival cancer ICD10CM:C03 MONDO:equivalentTo Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of gingiva MONDO:0005507 gingival cancer ICD10CM:C03 MONDO:equivalentTo Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gum MONDO:0005530 opiate dependence ICD10CM:F11.2 MONDO:equivalentTo Opioid dependence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opioid dependence @@ -518,23 +516,23 @@ MONDO:0005651 arenavirus hemorrhagic fever ICD10CM:A96 MONDO:equivalentTo Arenav MONDO:0005659 atrophic rhinitis ICD10CM:J31.0 MONDO:equivalentTo Chronic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophic rhinitis MONDO:0005659 atrophic rhinitis ICD10CM:J31.0 MONDO:equivalentTo Chronic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ozena MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym recrudescent typhus -MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brill-zinsser disorder +MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus MONDO:0005689 cannabis dependence ICD10CM:F12.1 MONDO:equivalentTo Cannabis abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cannabis abuse MONDO:0005700 chickenpox ICD10CM:B01 MONDO:equivalentTo Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label varicella MONDO:0005700 chickenpox ICD10CM:B01 MONDO:equivalentTo Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym varicella -MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute nasopharyngitis MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis -MONDO:0005717 contagious pustular dermatitis ICD10CM:B08.02 MONDO:equivalentTo Orf virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecthyma contagiosum +MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis MONDO:0005717 contagious pustular dermatitis ICD10CM:B08.02 MONDO:equivalentTo Orf virus disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym contagious pustular dermatitis -MONDO:0005722 croup ICD10CM:J05.0 MONDO:equivalentTo Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute obstructive laryngitis +MONDO:0005717 contagious pustular dermatitis ICD10CM:B08.02 MONDO:equivalentTo Orf virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecthyma contagiosum MONDO:0005722 croup ICD10CM:J05.0 MONDO:equivalentTo Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute obstructive laryngitis +MONDO:0005722 croup ICD10CM:J05.0 MONDO:equivalentTo Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute obstructive laryngitis MONDO:0005723 Cryptococcal meningitis ICD10CM:B45.1 MONDO:equivalentTo Cerebral cryptococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryptococcal meningitis MONDO:0005737 Ebola hemorrhagic fever ICD10CM:A98.4 MONDO:equivalentTo Ebola virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebola virus disorder MONDO:0005739 echinostomiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym echinostomiasis -MONDO:0005757 eumycotic mycetoma ICD10CM:B47.0 MONDO:equivalentTo Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eumycetoma MONDO:0005757 eumycotic mycetoma ICD10CM:B47.0 MONDO:equivalentTo Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maduromycosis +MONDO:0005757 eumycotic mycetoma ICD10CM:B47.0 MONDO:equivalentTo Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eumycetoma MONDO:0005761 filarial elephantiasis ICD10CM:H02.85 MONDO:equivalentTo Elephantiasis of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label elephantiasis of eyelid MONDO:0005761 filarial elephantiasis ICD10CM:B74.0 MONDO:equivalentTo Filariasis due to Wuchereria bancrofti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bancroftian elephantiasis MONDO:0005764 follicular dendritic cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular dendritic cell sarcoma @@ -542,8 +540,8 @@ MONDO:0005764 follicular dendritic cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo MONDO:0005768 gastrointestinal tuberculosis ICD10CM:A18.3 MONDO:equivalentTo Tuberculosis of intestines, peritoneum and mesenteric glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of intestines, peritoneum and mesenteric glands MONDO:0005779 hand, foot and mouth disease ICD10CM:B08.4 MONDO:equivalentTo Enteroviral vesicular stomatitis with exanthem semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hand, foot and mouth disorder MONDO:0005791 herpangina ICD10CM:B08.5 MONDO:equivalentTo Enteroviral vesicular pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpangina -MONDO:0005800 hordeolum ICD10CM:H00.01 MONDO:equivalentTo Hordeolum externum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stye MONDO:0005800 hordeolum ICD10CM:H00.03 MONDO:equivalentTo Abscess of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym furuncle of eyelid +MONDO:0005800 hordeolum ICD10CM:H00.01 MONDO:equivalentTo Hordeolum externum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stye MONDO:0005806 hypopharynx cancer ICD10CM:C13.2 MONDO:equivalentTo Malignant neoplasm of posterior wall of hypopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of hypopharynx MONDO:0005808 inclusion conjunctivitis ICD10CM:A71 MONDO:equivalentTo Trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trachoma MONDO:0005810 infectious mononucleosis ICD10CM:B27.0 MONDO:equivalentTo Gammaherpesviral mononucleosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gammaherpesviral mononucleosis @@ -553,12 +551,12 @@ MONDO:0005826 lipid pneumonia ICD10CM:J69.1 MONDO:equivalentTo Pneumonitis due t MONDO:0005829 louping ill ICD10CM:A84.89 MONDO:equivalentTo Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym louping ill MONDO:0005829 louping ill ICD10CM:A84.89 MONDO:equivalentTo Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym louping ill MONDO:0005831 lymph node tuberculosis ICD10CM:A18.2 MONDO:equivalentTo Tuberculous peripheral lymphadenopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous adenitis -MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder -MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym climatic or tropical bubo +MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale +MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of inferior maxilla -MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone +MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible MONDO:0005845 meningoencephalitis ICD10CM:A69.22 MONDO:equivalentTo Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis MONDO:0005845 meningoencephalitis ICD10CM:G04 MONDO:equivalentTo Encephalitis, myelitis and encephalomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis MONDO:0005846 microsporidiosis ICD10CM:B60.8 MONDO:equivalentTo Other specified protozoal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microsporidiosis @@ -567,8 +565,8 @@ MONDO:0005854 mixed connective tissue disease ICD10CM:M35.1 MONDO:equivalentTo O MONDO:0005864 muscle cancer ICD10CM:C49 MONDO:equivalentTo Malignant neoplasm of other connective and soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of muscle MONDO:0005866 mycobacterium avium complex disease ICD10CM:A31.0 MONDO:equivalentTo Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare MONDO:0005867 Mycoplasma pneumoniae pneumonia ICD10CM:J15.7 MONDO:equivalentTo Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae -MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis +MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis MONDO:0005890 osteitis fibrosa ICD10CM:E21.0 MONDO:equivalentTo Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis fibrosa cystica generalisata MONDO:0005898 paronychia ICD10CM:L03.0 MONDO:equivalentTo Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paronychia MONDO:0005898 paronychia ICD10CM:L03.0 MONDO:equivalentTo Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paronychia @@ -581,12 +579,12 @@ MONDO:0005942 Reye syndrome ICD10CM:G93.7 MONDO:equivalentTo Reye's syndrome sem MONDO:0005974 strongyloidiasis ICD10CM:B78.7 MONDO:equivalentTo Disseminated strongyloidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disseminated strongyloidiasis MONDO:0005976 syphilis ICD10CM:A52.3 MONDO:equivalentTo Neurosyphilis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym syphilis MONDO:0005979 thoracic outlet syndrome ICD10CM:G54.0 MONDO:equivalentTo Brachial plexus disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thoracic outlet syndrome -MONDO:0005988 toxocariasis ICD10CM:B83.0 MONDO:equivalentTo Visceral larva migrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxocariasis MONDO:0005988 toxocariasis ICD10CM:B83.0 MONDO:equivalentTo Visceral larva migrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visceral larva migrans +MONDO:0005988 toxocariasis ICD10CM:B83.0 MONDO:equivalentTo Visceral larva migrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxocariasis MONDO:0005990 tracheitis ICD10CM:J04.2 MONDO:equivalentTo Acute laryngotracheitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tracheitis MONDO:0005990 tracheitis ICD10CM:J42 MONDO:equivalentTo Unspecified chronic bronchitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic tracheitis -MONDO:0006001 urinary schistosomiasis ICD10CM:B65.0 MONDO:equivalentTo Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schistosomiasis due to schistosoma haematobium MONDO:0006001 urinary schistosomiasis ICD10CM:B65.0 MONDO:equivalentTo Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosomiasis due to schistosoma haematobium +MONDO:0006001 urinary schistosomiasis ICD10CM:B65.0 MONDO:equivalentTo Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schistosomiasis due to schistosoma haematobium MONDO:0006021 Prinzmetal angina ICD10CM:I20.1 MONDO:equivalentTo Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina MONDO:0006021 Prinzmetal angina ICD10CM:I20.1 MONDO:equivalentTo Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prinzmetal angina MONDO:0006022 acidosis disorder ICD10CM:E87.2 MONDO:equivalentTo Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis @@ -597,12 +595,12 @@ MONDO:0006044 nephrosclerosis ICD10CM:I12 MONDO:equivalentTo Hypertensive chroni MONDO:0006096 atypical endometrial hyperplasia ICD10CM:N85.02 MONDO:equivalentTo Endometrial intraepithelial neoplasia [EIN] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial hyperplasia with atypia MONDO:0006105 benign conjunctival neoplasm ICD10CM:D31.0 MONDO:equivalentTo Benign neoplasm of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of conjunctiva MONDO:0006107 benign thyroid gland neoplasm ICD10CM:D34 MONDO:equivalentTo Benign neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of thyroid gland -MONDO:0006237 granulocytic sarcoma ICD10CM:C92.3 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma MONDO:0006237 granulocytic sarcoma ICD10CM:C92.3 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma +MONDO:0006237 granulocytic sarcoma ICD10CM:C92.3 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma MONDO:0006241 hepatic granuloma ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic granuloma MONDO:0006270 lobular breast carcinoma in situ ICD10CM:D05.0 MONDO:equivalentTo Lobular carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lobular carcinoma in situ of breast -MONDO:0006314 nasal cavity polyp ICD10CM:J33 MONDO:equivalentTo Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp MONDO:0006314 nasal cavity polyp ICD10CM:J33.0 MONDO:equivalentTo Polyp of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of nasal cavity +MONDO:0006314 nasal cavity polyp ICD10CM:J33 MONDO:equivalentTo Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp MONDO:0006354 parathyroid hyperplasia ICD10CM:E21.0 MONDO:equivalentTo Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperplasia of parathyroid MONDO:0006362 peritoneal mesothelioma ICD10CM:C45.1 MONDO:equivalentTo Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum MONDO:0006362 peritoneal mesothelioma ICD10CM:C45.1 MONDO:equivalentTo Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of peritoneum @@ -640,8 +638,8 @@ MONDO:0006682 brachial plexus neuritis ICD10CM:G54.5 MONDO:equivalentTo Neuralgi MONDO:0006688 byssinosis ICD10CM:J66.1 MONDO:equivalentTo Flax-dressers' disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label flax-dressers' disorder MONDO:0006699 choledocholithiasis ICD10CM:K80.5 MONDO:equivalentTo Calculus of bile duct without cholangitis or cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choledocholithiasis MONDO:0006700 choroid cancer ICD10CM:C69.3 MONDO:equivalentTo Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of choroid -MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis +MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis MONDO:0006723 denture stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym denture stomatitis MONDO:0006734 benign duodenal neoplasm ICD10CM:D13.2 MONDO:equivalentTo Benign neoplasm of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of duodenum MONDO:0006744 endolymphatic hydrops ICD10CM:H81.0 MONDO:equivalentTo Ménière's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym labyrinthine hydrops @@ -656,8 +654,8 @@ MONDO:0006815 jejunal cancer ICD10CM:C17.1 MONDO:equivalentTo Malignant neoplasm MONDO:0006820 kidney cortex necrosis ICD10CM:N17.1 MONDO:equivalentTo Acute kidney failure with acute cortical necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cortical necrosis MONDO:0006827 lateral medullary syndrome ICD10CM:G46.3 MONDO:equivalentTo Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wallenberg syndrome MONDO:0006834 lip cancer ICD10CM:C00.9 MONDO:equivalentTo Malignant neoplasm of lip, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified -MONDO:0006834 lip cancer ICD10CM:C00.4 MONDO:equivalentTo Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect MONDO:0006834 lip cancer ICD10CM:C00.5 MONDO:equivalentTo Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect +MONDO:0006834 lip cancer ICD10CM:C00.4 MONDO:equivalentTo Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect MONDO:0006835 lipoid nephrosis ICD10CM:N04 MONDO:equivalentTo Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoid nephrosis MONDO:0006835 lipoid nephrosis ICD10CM:N04 MONDO:equivalentTo Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoid nephrosis MONDO:0006840 lymphangiectasis ICD10CM:I89.0 MONDO:equivalentTo Lymphedema, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangiectasis @@ -665,8 +663,8 @@ MONDO:0006846 malignant hypertension ICD10CM:I16.1 MONDO:equivalentTo Hypertensi MONDO:0006851 meconium aspiration syndrome ICD10CM:P24.0 MONDO:equivalentTo Meconium aspiration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium aspiration MONDO:0006862 myofascial pain syndrome ICD10CM:M79.1 MONDO:equivalentTo Myalgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myofascial pain syndrome MONDO:0006864 necrotizing sialometaplasia ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym necrotizing sialometaplasia -MONDO:0006865 necrotizing ulcerative gingivitis ICD10CM:A69.1 MONDO:equivalentTo Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincents angina MONDO:0006865 necrotizing ulcerative gingivitis ICD10CM:A69.1 MONDO:equivalentTo Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trench mouth +MONDO:0006865 necrotizing ulcerative gingivitis ICD10CM:A69.1 MONDO:equivalentTo Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincents angina MONDO:0006879 optic papillitis ICD10CM:H47.11 MONDO:equivalentTo Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure MONDO:0006884 panophthalmitis ICD10CM:H44.01 MONDO:equivalentTo Panophthalmitis (acute) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panophthalmitis MONDO:0006896 peptic esophagitis ICD10CM:K21.00 MONDO:equivalentTo Gastro-esophageal reflux disease with esophagitis, without bleeding semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflux esophagitis @@ -684,50 +682,49 @@ MONDO:0006966 secondary Parkinson disease ICD10CM:G21 MONDO:equivalentTo Seconda MONDO:0006966 secondary Parkinson disease ICD10CM:G21.9 MONDO:equivalentTo Secondary parkinsonism, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary parkinsonism, unspecified MONDO:0006969 sialadenitis ICD10CM:K11.2 MONDO:equivalentTo Sialoadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sialoadenitis MONDO:0006981 subacute bacterial endocarditis ICD10CM:I33.0 MONDO:equivalentTo Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocarditis lenta -MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ureteric stone MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of ureter -MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uveoparotid fever +MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ureteric stone MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever +MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uveoparotid fever MONDO:0007017 vitreous detachment ICD10CM:H43.81 MONDO:equivalentTo Vitreous degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitreous detachment MONDO:0007027 non-alcoholic steatohepatitis ICD10CM:K75.81 MONDO:equivalentTo Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis MONDO:0007099 familial visceral amyloidosis ICD10CM:E85.0 MONDO:equivalentTo Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy -MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis +MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007145 aplasia cutis congenita ICD10CM:Q84.8 MONDO:equivalentTo Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita MONDO:0007145 aplasia cutis congenita ICD10CM:Q84.8 MONDO:equivalentTo Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia cutis congenita MONDO:0007174 Lown-Ganong-Levine syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lown-ganong-levine syndrome MONDO:0007174 Lown-Ganong-Levine syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lown-ganong-levine syndrome MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma -MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatocellular carcinoma MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatocellular carcinoma +MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatocellular carcinoma MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma MONDO:0007294 central core myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central core disorder MONDO:0007303 cervical rib disease ICD10CM:Q76.5 MONDO:equivalentTo Cervical rib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical rib -MONDO:0007315 cherubism ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cherubism MONDO:0007315 cherubism ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cherubism +MONDO:0007315 cherubism ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cherubism MONDO:0007329 cirrhosis, familial ICD10CM:K74.69 MONDO:equivalentTo Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic cirrhosis MONDO:0007340 cleidocranial dysplasia ICD10CM:Q74.0 MONDO:equivalentTo Other congenital malformations of upper limb(s), including shoulder girdle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleidocranial dysostosis MONDO:0007342 clubfoot ICD10CM:Q66.0 MONDO:equivalentTo Congenital talipes equinovarus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital talipes equinovarus -MONDO:0007369 hereditary coproporphyria ICD10CM:E80.29 MONDO:equivalentTo Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria MONDO:0007369 hereditary coproporphyria ICD10CM:E80.29 MONDO:equivalentTo Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary coproporphyria -MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri-du-chat syndrome +MONDO:0007369 hereditary coproporphyria ICD10CM:E80.29 MONDO:equivalentTo Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome +MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri-du-chat syndrome MONDO:0007405 Crouzon syndrome ICD10CM:Q75.1 MONDO:equivalentTo Craniofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial dysostosis -MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary cryoglobulinemia -MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia -MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryoglobulinemic vasculitis MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential cryoglobulinemia +MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryoglobulinemic vasculitis +MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia +MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary cryoglobulinemia MONDO:0007417 Darier disease ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis follicularis -MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dens evaginatus MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy ICD10CM:I67.850 MONDO:equivalentTo Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cadasil +MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dens evaginatus MONDO:0007473 Duane retraction syndrome ICD10CM:H50.81 MONDO:equivalentTo Duane's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duanes syndrome MONDO:0007492 early-onset generalized limb-onset dystonia ICD10CM:G24.1 MONDO:equivalentTo Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia musculorum deformans -MONDO:0007534 Beckwith-Wiedemann syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beckwith-wiedemann syndrome MONDO:0007534 Beckwith-Wiedemann syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beckwith-wiedemann syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beckwith-wiedemann syndrome MONDO:0007540 multiple endocrine neoplasia type 1 ICD10CM:E31.21 MONDO:equivalentTo Multiple endocrine neoplasia [MEN] type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wermers syndrome -MONDO:0007542 Camurati-Engelmann disease ICD10CM:Q78.3 MONDO:equivalentTo Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive diaphyseal dysplasia MONDO:0007542 Camurati-Engelmann disease ICD10CM:Q78.3 MONDO:equivalentTo Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camurati-engelmann syndrome +MONDO:0007542 Camurati-Engelmann disease ICD10CM:Q78.3 MONDO:equivalentTo Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive diaphyseal dysplasia MONDO:0007547 epidermoid cysts ICD10CM:L72.0 MONDO:equivalentTo Epidermal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermal cyst MONDO:0007547 epidermoid cysts ICD10CM:K09.8 MONDO:equivalentTo Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermoid cyst MONDO:0007572 primary familial polycythemia due to EPO receptor mutation ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial erythrocytosis @@ -737,44 +734,44 @@ MONDO:0007603 Felty syndrome ICD10CM:M05.0 MONDO:equivalentTo Felty's syndrome s MONDO:0007606 fibrodysplasia ossificans progressiva ICD10CM:M61.1 MONDO:equivalentTo Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva ICD10CM:M61.1 MONDO:equivalentTo Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0007639 fundus albipunctatus ICD10CM:H35.52 MONDO:equivalentTo Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary retinal dystrophy -MONDO:0007650 MALT lymphoma ICD10CM:C88.4 MONDO:equivalentTo Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue MONDO:0007650 MALT lymphoma ICD10CM:C88.4 MONDO:equivalentTo Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue +MONDO:0007650 MALT lymphoma ICD10CM:C88.4 MONDO:equivalentTo Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue MONDO:0007652 gastric mucosal hypertrophy ICD10CM:K29.6 MONDO:equivalentTo Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis MONDO:0007661 Tourette syndrome ICD10CM:F95.2 MONDO:equivalentTo Tourette's disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tourettes syndrome MONDO:0007686 gray platelet syndrome ICD10CM:D69.1 MONDO:equivalentTo Qualitative platelet defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grey platelet syndrome -MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holt-oram syndrome MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holt-oram syndrome MONDO:0007739 Huntington disease ICD10CM:G10 MONDO:equivalentTo Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huntingtons disorder MONDO:0007739 Huntington disease ICD10CM:G10 MONDO:equivalentTo Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym huntingtons chorea -MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia +MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia MONDO:0007769 hyperpigmentation of eyelid ICD10CM:H02.71 MONDO:equivalentTo Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid MONDO:0007769 hyperpigmentation of eyelid ICD10CM:H02.71 MONDO:equivalentTo Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpigmentation of eyelid MONDO:0007793 hypochondroplasia ICD10CM:Q77.4 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia MONDO:0007793 hypochondroplasia ICD10CM:Q77.4 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondroplasia MONDO:0007827 inclusion body myositis ICD10CM:G72.41 MONDO:equivalentTo Inclusion body myositis [IBM] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis -MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kleine-levin syndrome +MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome MONDO:0007864 angioosteohypertrophic syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-trenaunay-weber syndrome -MONDO:0007869 Kyrle disease ICD10CM:L87.0 MONDO:equivalentTo Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kyrle disorder MONDO:0007869 Kyrle disease ICD10CM:L87.0 MONDO:equivalentTo Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kyrle disorder +MONDO:0007869 Kyrle disease ICD10CM:L87.0 MONDO:equivalentTo Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kyrle disorder MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91.2 MONDO:equivalentTo Coxa plana semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coxa plana -MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91 MONDO:equivalentTo Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91.3 MONDO:equivalentTo Pseudocoxalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudocoxalgia +MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91 MONDO:equivalentTo Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis MONDO:0007886 uterine corpus leiomyoma ICD10CM:D25 MONDO:equivalentTo Leiomyoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine fibroid MONDO:0007896 acute monocytic leukemia ICD10CM:C93.0 MONDO:equivalentTo Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 -MONDO:0007915 systemic lupus erythematosus ICD10CM:M32 MONDO:equivalentTo Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic lupus erythematosus MONDO:0007915 systemic lupus erythematosus ICD10CM:M32 MONDO:equivalentTo Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic lupus erythematosus +MONDO:0007915 systemic lupus erythematosus ICD10CM:M32 MONDO:equivalentTo Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic lupus erythematosus MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome ICD10CM:E71.440 MONDO:equivalentTo Ruvalcaba-Myhre-Smith syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruvalcaba-myhre-smith syndrome MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) ICD10CM:D46.C MONDO:equivalentTo Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome with type 5q deletion MONDO:0007946 jaw-winking syndrome ICD10CM:Q07.8 MONDO:equivalentTo Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome MONDO:0007946 jaw-winking syndrome ICD10CM:Q07.8 MONDO:equivalentTo Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jaw-winking syndrome MONDO:0007947 Marfan syndrome ICD10CM:Q87.4 MONDO:equivalentTo Marfan's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfans syndrome -MONDO:0007955 Meckel diverticulum ICD10CM:Q43.0 MONDO:equivalentTo Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct MONDO:0007955 Meckel diverticulum ICD10CM:Q43.0 MONDO:equivalentTo Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckels diverticulum +MONDO:0007955 Meckel diverticulum ICD10CM:Q43.0 MONDO:equivalentTo Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct +MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melkersson-rosenthal syndrome MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome -MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome MONDO:0007972 Meniere disease ICD10CM:H81.39 MONDO:equivalentTo Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo MONDO:0008007 tooth ankylosis ICD10CM:K03.5 MONDO:equivalentTo Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth MONDO:0008009 monilethrix ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix @@ -789,16 +786,16 @@ MONDO:0008090 cyclic hematopoiesis ICD10CM:D70.4 MONDO:equivalentTo Cyclic neutr MONDO:0008090 cyclic hematopoiesis ICD10CM:D70.4 MONDO:equivalentTo Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodic neutropenia MONDO:0008090 cyclic hematopoiesis ICD10CM:D70.4 MONDO:equivalentTo Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cyclic hematopoiesis MONDO:0008114 obsessive-compulsive disorder ICD10CM:F42.8 MONDO:equivalentTo Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anancastic neurosis -MONDO:0008116 oculopharyngeal muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy MONDO:0008116 oculopharyngeal muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy +MONDO:0008116 oculopharyngeal muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy MONDO:0008145 Ollier disease ICD10CM:Q78.4 MONDO:equivalentTo Enchondromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olliers disorder MONDO:0008170 ovarian cancer ICD10CM:C56 MONDO:equivalentTo Malignant neoplasm of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ovary MONDO:0008171 nephrolithiasis ICD10CM:N20 MONDO:equivalentTo Calculus of kidney and ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of kidney and ureter MONDO:0008195 paramyotonia congenita of Von Eulenburg ICD10CM:G71.19 MONDO:equivalentTo Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paramyotonia congenita -MONDO:0008223 hypokalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis -MONDO:0008224 hyperkalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperkalemic periodic paralysis +MONDO:0008223 hypokalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperkalemic periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperkalemic periodic paralysis MONDO:0008228 pernicious anemia ICD10CM:D51.0 MONDO:equivalentTo Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biermer anemia MONDO:0008231 Peyronie disease ICD10CM:N48.6 MONDO:equivalentTo Induration penis plastica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peyronies disorder MONDO:0008244 piebaldism ICD10CM:E70.39 MONDO:equivalentTo Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism @@ -810,8 +807,8 @@ MONDO:0008280 Peutz-Jeghers syndrome ICD10CM:Q85.8 MONDO:equivalentTo Other phak MONDO:0008315 prostate cancer ICD10CM:C61 MONDO:equivalentTo Malignant neoplasm of prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prostate MONDO:0008340 ptosis, hereditary congenital, 1 ICD10CM:Q10.0 MONDO:equivalentTo Congenital ptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ptosis MONDO:0008346 pulmonary hemosiderosis ICD10CM:J84.03 MONDO:equivalentTo Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary hemosiderosis -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy MONDO:0008354 purpura simplex ICD10CM:D69.2 MONDO:equivalentTo Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura simplex MONDO:0008354 purpura simplex ICD10CM:D69.2 MONDO:equivalentTo Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura simplex @@ -819,45 +816,45 @@ MONDO:0008388 ringed hair disease ICD10CM:Q84.1 MONDO:equivalentTo Congenital mo MONDO:0008392 Roussy-Levy syndrome ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roussy-levy syndrome MONDO:0008392 Roussy-Levy syndrome ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roussy-levy syndrome MONDO:0008394 Silver-Russell syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome -MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of spine MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scheuermanns disorder -MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym smith-magenis syndrome +MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of spine MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym smith-magenis syndrome MONDO:0008485 sebocystomatosis ICD10CM:L72.2 MONDO:equivalentTo Steatocystoma multiplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label steatocystoma multiplex MONDO:0008487 polycystic ovary syndrome ICD10CM:E28.2 MONDO:equivalentTo Polycystic ovarian syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stein-leventhal syndrome MONDO:0008491 stiff-person syndrome ICD10CM:G25.82 MONDO:equivalentTo Stiff-man syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stiff-man syndrome -MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blau syndrome MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blau syndrome +MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blau syndrome MONDO:0008541 spermatic cord torsion ICD10CM:N44.0 MONDO:equivalentTo Torsion of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torsion of testis MONDO:0008558 autoimmune thrombocytopenic purpura ICD10CM:D69.3 MONDO:equivalentTo Immune thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic thrombocytopenic purpura MONDO:0008564 DiGeorge syndrome ICD10CM:D82.1 MONDO:equivalentTo Di George's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngeal pouch syndrome MONDO:0008583 inherited torticollis ICD10CM:M43.6 MONDO:equivalentTo Torticollis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torticollis MONDO:0008610 blue color blindness ICD10CM:H53.55 MONDO:equivalentTo Tritanomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tritanopia -MONDO:0008633 Muckle-Wells syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym muckle-wells syndrome MONDO:0008667 von Hippel-Lindau disease ICD10CM:Q85.8 MONDO:equivalentTo Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von hippel-lindau syndrome +MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anomalous atrioventricular excitation MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolff-parkinson-white syndrome -MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome -MONDO:0008692 abetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abetalipoproteinemia MONDO:0008692 abetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abetalipoproteinemia +MONDO:0008692 abetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abetalipoproteinemia MONDO:0008698 achalasia ICD10CM:K22.0 MONDO:equivalentTo Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiospasm MONDO:0008698 achalasia ICD10CM:K22.0 MONDO:equivalentTo Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia of cardia MONDO:0008705 lysosomal acid phosphatase deficiency ICD10CM:E83.39 MONDO:equivalentTo Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid phosphatase deficiency -MONDO:0008713 acrodermatitis enteropathica ICD10CM:E83.2 MONDO:equivalentTo Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica MONDO:0008713 acrodermatitis enteropathica ICD10CM:E83.2 MONDO:equivalentTo Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrodermatitis enteropathica +MONDO:0008713 acrodermatitis enteropathica ICD10CM:E83.2 MONDO:equivalentTo Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica MONDO:0008737 congenital afibrinogenemia ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital afibrinogenemia MONDO:0008740 agnathia-otocephaly complex ICD10CM:Q18.2 MONDO:equivalentTo Other branchial cleft malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otocephaly -MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria +MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria MONDO:0008758 mitochondrial DNA depletion syndrome 4a ICD10CM:G31.81 MONDO:equivalentTo Alpers disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers disorder MONDO:0008783 Tangier disease ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tangier disorder MONDO:0008783 Tangier disease ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tangier disorder MONDO:0008813 arachnoid cyst ICD10CM:G93.0 MONDO:equivalentTo Cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arachnoid cyst MONDO:0008814 hyperargininemia ICD10CM:E72.21 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argininemia MONDO:0008829 chylous ascites ICD10CM:I89.8 MONDO:equivalentTo Other specified noninfective disorders of lymphatic vessels and lymph nodes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylous ascites -MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspartylglucosaminuria +MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria MONDO:0008840 ataxia telangiectasia ICD10CM:G11.3 MONDO:equivalentTo Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia telangiectasia MONDO:0008840 ataxia telangiectasia ICD10CM:G11.3 MONDO:equivalentTo Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxia telangiectasia MONDO:0008867 biliary atresia ICD10CM:Q44.2 MONDO:equivalentTo Atresia of bile ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of bile ducts @@ -868,32 +865,32 @@ MONDO:0008982 central areolar choroidal dystrophy ICD10CM:H31.22 MONDO:equivalen MONDO:0009009 hypoplasminogenemia ICD10CM:E88.02 MONDO:equivalentTo Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia MONDO:0009009 hypoplasminogenemia ICD10CM:E88.02 MONDO:equivalentTo Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia MONDO:0009022 corpus callosum, agenesis of ICD10CM:Q04.0 MONDO:equivalentTo Congenital malformations of corpus callosum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of corpus callosum -MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria -MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka -MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dandy-walker syndrome +MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dandy-walker syndrome +MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dandy-walker syndrome +MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka MONDO:0009114 congenital sucrase-isomaltase deficiency ICD10CM:E74.31 MONDO:equivalentTo Sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sucrase-isomaltase deficiency -MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubowitz syndrome +MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome MONDO:0009131 Riley-Day syndrome ICD10CM:G90.1 MONDO:equivalentTo Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia MONDO:0009131 Riley-Day syndrome ICD10CM:G90.1 MONDO:equivalentTo Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dysautonomia MONDO:0009144 Ebstein anomaly ICD10CM:Q22.5 MONDO:equivalentTo Ebstein's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebsteins anomaly -MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ellis-van creveld syndrome MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondroectodermal dysplasia +MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ellis-van creveld syndrome MONDO:0009182 junctional epidermolysis bullosa Herlitz type ICD10CM:Q81.1 MONDO:equivalentTo Epidermolysis bullosa letalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa letalis MONDO:0009197 transient erythroblastopenia of childhood ICD10CM:D60.1 MONDO:equivalentTo Transient acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient acquired pure red cell aplasia MONDO:0009210 congenital factor V deficiency ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proaccelerin deficiency MONDO:0009211 congenital factor VII deficiency ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproconvertinemia -MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fucosidosis +MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency MONDO:0009275 neonatal hemochromatosis ICD10CM:P78.84 MONDO:equivalentTo Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis MONDO:0009290 glycogen storage disease II ICD10CM:E74.02 MONDO:equivalentTo Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disorder -MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disorder MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disorder +MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disorder MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency ICD10CM:E74.09 MONDO:equivalentTo Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andersen disorder MONDO:0009293 glycogen storage disease V ICD10CM:E74.04 MONDO:equivalentTo McArdle disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcardle disorder MONDO:0009294 glycogen storage disease VI ICD10CM:E74.09 MONDO:equivalentTo Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disorder @@ -903,74 +900,74 @@ MONDO:0009380 Dubin-Johnson syndrome ICD10CM:E80.6 MONDO:equivalentTo Other diso MONDO:0009380 Dubin-Johnson syndrome ICD10CM:E80.6 MONDO:equivalentTo Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubin-johnson syndrome MONDO:0009385 hyperleucine-Isoleucinemia ICD10CM:E71.19 MONDO:equivalentTo Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperleucine-isoleucinemia MONDO:0009385 hyperleucine-Isoleucinemia ICD10CM:E71.19 MONDO:equivalentTo Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperleucine-isoleucinemia -MONDO:0009387 familial lipoprotein lipase deficiency ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia MONDO:0009387 familial lipoprotein lipase deficiency ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed hyperglyceridemia +MONDO:0009387 familial lipoprotein lipase deficiency ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia MONDO:0009388 hyperlysinemia ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlysinemia MONDO:0009388 hyperlysinemia ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlysinemia MONDO:0009451 Nezelof syndrome ICD10CM:D81.4 MONDO:equivalentTo Nezelof's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nezelofs syndrome MONDO:0009468 pseudotumor cerebri ICD10CM:G93.2 MONDO:equivalentTo Benign intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign intracranial hypertension MONDO:0009476 atresia of small intestine ICD10CM:Q41.1 MONDO:equivalentTo Congenital absence, atresia and stenosis of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apple peel syndrome -MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome +MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome MONDO:0009519 letterer-Siwe disease ICD10CM:C96.0 MONDO:equivalentTo Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym letterer-siwe disorder MONDO:0009519 letterer-Siwe disease ICD10CM:C96.0 MONDO:equivalentTo Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym letterer-siwe disorder -MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disorder MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chylomicron retention disorder +MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disorder MONDO:0009532 Miller-Dieker lissencephaly syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome MONDO:0009650 mucolipidosis type II ICD10CM:E77.0 MONDO:equivalentTo Defects in post-translational modification of lysosomal enzymes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis ii MONDO:0009659 mucopolysaccharidosis type 4A ICD10CM:E76.210 MONDO:equivalentTo Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a MONDO:0009660 mucopolysaccharidosis type 4B ICD10CM:E76.211 MONDO:equivalentTo Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b MONDO:0009662 mucopolysaccharidosis type 7 ICD10CM:E76.29 MONDO:equivalentTo Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency -MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency -MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis +MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis +MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis MONDO:0009696 juvenile myoclonic epilepsy ICD10CM:G40.B MONDO:equivalentTo Juvenile myoclonic epilepsy [impulsive petit mal] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy MONDO:0009717 Schwartz-Jampel syndrome ICD10CM:G71.13 MONDO:equivalentTo Myotonic chondrodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotonic chondrodystrophy MONDO:0009723 Leigh syndrome ICD10CM:G31.82 MONDO:equivalentTo Leigh's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leighs disorder MONDO:0009755 neutrophil actin dysfunction ICD10CM:D22 MONDO:equivalentTo Melanocytic nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical nevus MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type ICD10CM:E70.328 MONDO:equivalentTo Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cross syndrome MONDO:0009813 chronic recurrent multifocal osteomyelitis ICD10CM:M86.3 MONDO:equivalentTo Chronic multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic multifocal osteomyelitis -MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.2 MONDO:equivalentTo Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25 MONDO:equivalentTo Malignant neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.0 MONDO:equivalentTo Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas +MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.2 MONDO:equivalentTo Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.1 MONDO:equivalentTo Malignant neoplasm of body of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of pancreas MONDO:0009846 pentosuria ICD10CM:E74.89 MONDO:equivalentTo Other specified disorders of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential pentosuria MONDO:0009852 hereditary intrinsic factor deficiency ICD10CM:D51.0 MONDO:equivalentTo Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency MONDO:0009887 desquamative interstitial pneumonia ICD10CM:J84.115 MONDO:equivalentTo Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disorder MONDO:0010002 Rothmund-Thomson syndrome ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital poikiloderma -MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia -MONDO:0010011 schizencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schizencephaly +MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia MONDO:0010011 schizencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizencephaly +MONDO:0010011 schizencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schizencephaly MONDO:0010030 Sjogren syndrome ICD10CM:M35.0 MONDO:equivalentTo Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sicca syndrome -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria MONDO:0010085 Schilder disease ICD10CM:G37.0 MONDO:equivalentTo Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilders disorder MONDO:0010089 isolated sulfite oxidase deficiency ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency -MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia +MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym taurodontism MONDO:0010138 thyrotoxicosis ICD10CM:E05 MONDO:equivalentTo Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxicosis -MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weaver syndrome +MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome MONDO:0010200 Wilson disease ICD10CM:E83.01 MONDO:equivalentTo Wilson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wilsons disorder MONDO:0010229 alopecia, congenital ICD10CM:Q84.0 MONDO:equivalentTo Congenital alopecia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alopecia MONDO:0010269 Coats disease ICD10CM:H35.02 MONDO:equivalentTo Exudative retinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative retinopathy -MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fragile x syndrome MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome +MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fragile x syndrome MONDO:0010421 Bruton-type agammaglobulinemia ICD10CM:D80.0 MONDO:equivalentTo Hereditary hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked agammaglobulinemia MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia a -MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor viii deficiency MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia a -MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency -MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency -MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b +MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor viii deficiency MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder +MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia b +MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency +MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b MONDO:0010622 recessive X-linked ichthyosis ICD10CM:Q80.1 MONDO:equivalentTo X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis MONDO:0010683 X-linked centronuclear myopathy ICD10CM:G71.220 MONDO:equivalentTo X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy MONDO:0010703 ornithine carbamoyltransferase deficiency ICD10CM:E72.4 MONDO:equivalentTo Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency @@ -981,9 +978,9 @@ MONDO:0011057 cerebrovascular disorder ICD10CM:I67.89 MONDO:equivalentTo Other c MONDO:0011118 bilineal acute myeloid leukemia ICD10CM:C95.0 MONDO:equivalentTo Acute leukemia of unspecified cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute bilineal leukemia MONDO:0011230 ossification of the posterior longitudinal ligament of the spine ICD10CM:M48.8 MONDO:equivalentTo Other specified spondylopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ossification of posterior longitudinal ligament MONDO:0011266 myotonic dystrophy type 2 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic myopathy -MONDO:0011382 sickle cell anemia ICD10CM:D57.20 MONDO:equivalentTo Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis -MONDO:0011382 sickle cell anemia ICD10CM:D57.1 MONDO:equivalentTo Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disorder without crisis MONDO:0011382 sickle cell anemia ICD10CM:D57.2 MONDO:equivalentTo Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disorder +MONDO:0011382 sickle cell anemia ICD10CM:D57.1 MONDO:equivalentTo Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disorder without crisis +MONDO:0011382 sickle cell anemia ICD10CM:D57.20 MONDO:equivalentTo Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis MONDO:0011414 Peters anomaly ICD10CM:Q13.4 MONDO:equivalentTo Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly MONDO:0011414 Peters anomaly ICD10CM:Q13.4 MONDO:equivalentTo Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peters anomaly MONDO:0011438 acne ICD10CM:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis @@ -992,25 +989,25 @@ MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivale MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivalentTo Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflex sympathetic dystrophy MONDO:0011565 metabolic syndrome X ICD10CM:E88.81 MONDO:equivalentTo Metabolic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysmetabolic syndrome x MONDO:0011612 glycine encephalopathy ICD10CM:E72.51 MONDO:equivalentTo Non-ketotic hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-ketotic hyperglycinemia -MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pars planitis MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis +MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis MONDO:0011731 glucose-galactose malabsorption ICD10CM:E74.39 MONDO:equivalentTo Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucose-galactose malabsorption MONDO:0011731 glucose-galactose malabsorption ICD10CM:E74.39 MONDO:equivalentTo Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucose-galactose malabsorption MONDO:0011849 psoriatic arthritis ICD10CM:L40.5 MONDO:equivalentTo Arthropathic psoriasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthropathic psoriasis MONDO:0011876 juvenile absence epilepsy ICD10CM:G40.A MONDO:equivalentTo Absence epileptic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile absence epilepsy MONDO:0011895 idiopathic hypereosinophilic syndrome ICD10CM:D72.110 MONDO:equivalentTo Idiopathic hypereosinophilic syndrome [IHES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypereosinophilic syndrome MONDO:0011962 endometrial cancer ICD10CM:C54.1 MONDO:equivalentTo Malignant neoplasm of endometrium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of endometrium -MONDO:0012038 speech-sound disorder ICD10CM:F80.0 MONDO:equivalentTo Phonological disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym speech-sound disorder MONDO:0012038 speech-sound disorder ICD10CM:F80.0 MONDO:equivalentTo Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-sound disorder +MONDO:0012038 speech-sound disorder ICD10CM:F80.0 MONDO:equivalentTo Phonological disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym speech-sound disorder MONDO:0012316 Majeed syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym majeed syndrome MONDO:0012316 Majeed syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym majeed syndrome MONDO:0012672 cholelithiasis ICD10CM:K80.2 MONDO:equivalentTo Calculus of gallbladder without cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholelithiasis MONDO:0012727 mucocutaneous lymph node syndrome ICD10CM:M30.3 MONDO:equivalentTo Mucocutaneous lymph node syndrome [Kawasaki] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous lymph node syndrome MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 ICD10CM:E74.810 MONDO:equivalentTo Glucose transporter protein type 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2, childhood onset -MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosenthals disorder -MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia c MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor xi deficiency +MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia c +MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo Hereditary factor XI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosenthals disorder MONDO:0013028 adenosine monophosphate deaminase deficiency ICD10CM:E79.2 MONDO:equivalentTo Myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoadenylate deaminase deficiency MONDO:0013144 hereditary antithrombin deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antithrombin iii deficiency MONDO:0013166 GABA aminotransaminase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaba transaminase deficiency @@ -1018,9 +1015,9 @@ MONDO:0013300 commissural facial cleft ICD10CM:Q18.4 MONDO:equivalentTo Macrosto MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acatalasia MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acatalasia MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency ICD10CM:D80.8 MONDO:equivalentTo Other immunodeficiencies with predominantly antibody defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kappa light chain deficiency +MONDO:0013662 Barrett esophagus ICD10CM:K22.1 MONDO:equivalentTo Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis MONDO:0013662 Barrett esophagus ICD10CM:K22.7 MONDO:equivalentTo Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barretts syndrome MONDO:0013662 Barrett esophagus ICD10CM:K22.7 MONDO:equivalentTo Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label barretts esophagus -MONDO:0013662 Barrett esophagus ICD10CM:K22.1 MONDO:equivalentTo Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis MONDO:0013730 graft versus host disease ICD10CM:D89.81 MONDO:equivalentTo Graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder MONDO:0014306 vasculitis due to ADA2 deficiency ICD10CM:D81.32 MONDO:equivalentTo Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency ICD10CM:D81.32 MONDO:equivalentTo Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency @@ -1028,8 +1025,8 @@ MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic ICD10CM:E88.09 MONDO:eq MONDO:0014452 familial dysfibrinogenemia ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysfibrinogenemia MONDO:0014624 Brown syndrome ICD10CM:H50.61 MONDO:equivalentTo Brown's sheath syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label browns sheath syndrome MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean lymphoma -MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha heavy chain disorder +MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary adrenocortical insufficiency @@ -1046,18 +1043,18 @@ MONDO:0015347 multicentric reticulohistiocytosis ICD10CM:E78.81 MONDO:equivalent MONDO:0015397 oculo-auriculo-vertebral spectrum ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldenhar syndrome MONDO:0015450 triatrial heart ICD10CM:Q24.2 MONDO:equivalentTo Cor triatriatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor triatriatum MONDO:0015453 Cogan syndrome ICD10CM:H16.32 MONDO:equivalentTo Diffuse interstitial keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cogans syndrome -MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple carboxylase deficiency +MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency MONDO:0015517 common variable immunodeficiency ICD10CM:D80.1 MONDO:equivalentTo Nonfamilial hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common variable agammaglobulinemia MONDO:0015540 hemophagocytic syndrome ICD10CM:D76.1 MONDO:equivalentTo Hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemophagocytic lymphohistiocytosis MONDO:0015558 isolated bone marrow mastocytosis ICD10CM:D47.02 MONDO:equivalentTo Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated bone marrow mastocytosis MONDO:0015613 dentin dysplasia ICD10CM:K00.5 MONDO:equivalentTo Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinal dysplasia -MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disorder MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder +MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disorder MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy MONDO:0015636 dirofilariasis ICD10CM:B74.8 MONDO:equivalentTo Other filariases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dirofilariasis -MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hellers syndrome +MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symbiotic psychosis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dementia infantilis MONDO:0015691 hypereosinophilic syndrome ICD10CM:D72.11 MONDO:equivalentTo Hypereosinophilic syndrome [HES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome @@ -1070,8 +1067,8 @@ MONDO:0015841 partial septate uterus ICD10CM:Q51.22 MONDO:equivalentTo Partial d MONDO:0015943 eosinophilic granulomatosis with polyangiitis ICD10CM:M30.1 MONDO:equivalentTo Polyarteritis with lung involvement [Churg-Strauss] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granulomatosis with polyangiitis MONDO:0015943 eosinophilic granulomatosis with polyangiitis ICD10CM:M30.1 MONDO:equivalentTo Polyarteritis with lung involvement [Churg-Strauss] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic granulomatous angiitis MONDO:0015987 scimitar syndrome ICD10CM:Q26.8 MONDO:equivalentTo Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome -MONDO:0015988 multicystic dysplastic kidney ICD10CM:Q61.4 MONDO:equivalentTo Renal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic renal dysplasia MONDO:0015988 multicystic dysplastic kidney ICD10CM:Q61.4 MONDO:equivalentTo Renal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multicystic dysplastic kidney +MONDO:0015988 multicystic dysplastic kidney ICD10CM:Q61.4 MONDO:equivalentTo Renal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic renal dysplasia MONDO:0016006 Cockayne syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome MONDO:0016011 fetal alcohol syndrome ICD10CM:Q86.0 MONDO:equivalentTo Fetal alcohol syndrome (dysmorphic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal alcohol syndrome MONDO:0016025 myoclonic-astastic epilepsy ICD10CM:G40.4 MONDO:equivalentTo Other generalized epilepsy and epileptic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy with myoclonic-astatic seizures @@ -1083,8 +1080,8 @@ MONDO:0016079 sporadic Creutzfeldt-Jakob disease ICD10CM:A81.09 MONDO:equivalent MONDO:0016107 myotonic dystrophy ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy MONDO:0016129 eosinophilic gastroenteritis ICD10CM:K52.81 MONDO:equivalentTo Eosinophilic gastritis or gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic enteritis MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo Narcolepsy with cataplexy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy with cataplexy -MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutis laxa MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cutis laxa +MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutis laxa MONDO:0016242 hemoglobin C disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder MONDO:0016243 hemoglobin E disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder MONDO:0016301 congenitally corrected transposition of the great arteries ICD10CM:Q20.5 MONDO:equivalentTo Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion @@ -1095,9 +1092,9 @@ MONDO:0016372 glossopharyngeal neuralgia ICD10CM:G52.1 MONDO:equivalentTo Disord MONDO:0016372 glossopharyngeal neuralgia ICD10CM:G52.1 MONDO:equivalentTo Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glossopharyngeal neuralgia MONDO:0016466 asbestosis ICD10CM:J61 MONDO:equivalentTo Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis MONDO:0016466 asbestosis ICD10CM:J61 MONDO:equivalentTo Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis +MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cooleys anemia MONDO:0016486 beta-thalassemia major ICD10CM:D56.9 MONDO:equivalentTo Thalassemia, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean anemia -MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major MONDO:0016544 IgG4-related mesenteritis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sclerosing mesenteritis MONDO:0016544 IgG4-related mesenteritis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric panniculitis MONDO:0016567 locked-in syndrome ICD10CM:G83.5 MONDO:equivalentTo Locked-in state semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label locked-in state @@ -1105,13 +1102,13 @@ MONDO:0016595 inhalational anthrax ICD10CM:A22.1 MONDO:equivalentTo Pulmonary an MONDO:0016620 primary hypertrophic osteoarthropathy ICD10CM:M89.4 MONDO:equivalentTo Other hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pachydermoperiostosis MONDO:0016675 distal arthrogryposis type 10 ICD10CM:M67.0 MONDO:equivalentTo Short Achilles tendon (acquired) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short achilles tendon MONDO:0016770 actinic lichen planus ICD10CM:L43.3 MONDO:equivalentTo Subacute (active) lichen planus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lichen planus tropicus -MONDO:0016971 limb-girdle muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy MONDO:0016971 limb-girdle muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy MONDO:0016989 Fuchs heterochromic iridocyclitis ICD10CM:H20.81 MONDO:equivalentTo Fuchs' heterochromic cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fuchs' heterochromic cyclitis MONDO:0017069 spina bifida cystica ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningomyelocele MONDO:0017078 cephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele -MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalocele +MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele MONDO:0017124 noma ICD10CM:A69.0 MONDO:equivalentTo Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noma MONDO:0017124 noma ICD10CM:A69.0 MONDO:equivalentTo Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancrum oris MONDO:0017147 idiopathic pulmonary arterial hypertension ICD10CM:I27.0 MONDO:equivalentTo Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic pulmonary arterial hypertension @@ -1122,10 +1119,10 @@ MONDO:0017194 Blount disease ICD10CM:M92.51 MONDO:equivalentTo Juvenile osteocho MONDO:0017194 Blount disease ICD10CM:M92.51 MONDO:equivalentTo Juvenile osteochondrosis of proximal tibia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blount disorder MONDO:0017236 rapidly progressive glomerulonephritis ICD10CM:N01 MONDO:equivalentTo Rapidly progressive nephritic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rapidly progressive glomerulonephritis MONDO:0017373 poliomyelitis ICD10CM:A80 MONDO:equivalentTo Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis +MONDO:0017376 reactive arthritis ICD10CM:M02.1 MONDO:equivalentTo Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive arthritis -MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder -MONDO:0017376 reactive arthritis ICD10CM:M02.1 MONDO:equivalentTo Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy +MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis MONDO:0017410 porencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly MONDO:0017416 postpoliomyelitis syndrome ICD10CM:G14 MONDO:equivalentTo Postpolio syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postpolio syndrome MONDO:0017560 congenital genu recurvatum ICD10CM:Q68.2 MONDO:equivalentTo Congenital deformity of knee semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital genu recurvatum @@ -1137,12 +1134,12 @@ MONDO:0017708 mevalonate kinase deficiency ICD10CM:M04.1 MONDO:equivalentTo Peri MONDO:0017734 sialidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sialidosis MONDO:0017773 hypoalphalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoalphalipoproteinemia MONDO:0017774 hypobetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypobetalipoproteinemia -MONDO:0017775 melioidosis ICD10CM:A24.2 MONDO:equivalentTo Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis MONDO:0017775 melioidosis ICD10CM:A24.9 MONDO:equivalentTo Melioidosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym whitmores disorder MONDO:0017775 melioidosis ICD10CM:A24.1 MONDO:equivalentTo Acute and fulminating melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute and fulminating melioidosis +MONDO:0017775 melioidosis ICD10CM:A24.2 MONDO:equivalentTo Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis MONDO:0017870 supravalvular pulmonary stenosis ICD10CM:Q25.6 MONDO:equivalentTo Stenosis of pulmonary artery semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supravalvular pulmonary stenosis -MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym argentinian hemorrhagic fever MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label junin hemorrhagic fever +MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym argentinian hemorrhagic fever MONDO:0017875 Bolivian hemorrhagic fever ICD10CM:A96.1 MONDO:equivalentTo Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bolivian hemorrhagic fever MONDO:0017875 Bolivian hemorrhagic fever ICD10CM:A96.1 MONDO:equivalentTo Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label machupo hemorrhagic fever MONDO:0017979 autoimmune lymphoproliferative syndrome ICD10CM:D89.82 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome [ALPS] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome @@ -1152,9 +1149,9 @@ MONDO:0017991 Takayasu arteritis ICD10CM:M31.4 MONDO:equivalentTo Aortic arch sy MONDO:0018018 wild type ATTR amyloidosis ICD10CM:E85.82 MONDO:equivalentTo Wild-type transthyretin-related (ATTR) amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis MONDO:0018025 chronic actinic dermatitis ICD10CM:L57.1 MONDO:equivalentTo Actinic reticuloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic reticuloid MONDO:0018044 idiopathic hypersomnia ICD10CM:F51.11 MONDO:equivalentTo Primary hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypersomnia -MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk -MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk MONDO:0018088 familial Mediterranean fever ICD10CM:M04.1 MONDO:equivalentTo Periodic fever syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever MONDO:0018089 double outlet right ventricle ICD10CM:Q20.3 MONDO:equivalentTo Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dextrotransposition of aorta MONDO:0018092 Vogt-Koyanagi-Harada disease ICD10CM:H30.81 MONDO:equivalentTo Harada's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label haradas disorder @@ -1169,14 +1166,14 @@ MONDO:0018301 interstitial cystitis ICD10CM:N30.1 MONDO:equivalentTo Interstitia MONDO:0018305 chronic granulomatous disease ICD10CM:D71 MONDO:equivalentTo Functional disorders of polymorphonuclear neutrophils semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dysphagocytosis MONDO:0018309 Hirschsprung disease ICD10CM:Q43.1 MONDO:equivalentTo Hirschsprung's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hirschsprungs disorder MONDO:0018362 persistent idiopathic facial pain ICD10CM:G50.1 MONDO:equivalentTo Atypical facial pain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical facial pain +MONDO:0018381 osteochondrosis ICD10CM:M92.7 MONDO:equivalentTo Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M91.0 MONDO:equivalentTo Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.4 MONDO:equivalentTo Juvenile osteochondrosis of patella semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M92.21 MONDO:equivalentTo Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.6 MONDO:equivalentTo Juvenile osteochondrosis of tarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.1 MONDO:equivalentTo Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M92.7 MONDO:equivalentTo Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M91.0 MONDO:equivalentTo Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.22 MONDO:equivalentTo Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.0 MONDO:equivalentTo Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M92.21 MONDO:equivalentTo Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018382 epiphysiolysis of the hip ICD10CM:M93.0 MONDO:equivalentTo Slipped upper femoral epiphysis (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slipped upper femoral epiphysis MONDO:0018408 cystic echinococcosis ICD10CM:B67.1 MONDO:equivalentTo Echinococcus granulosus infection of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus infection of lung MONDO:0018432 lichen myxedematosus ICD10CM:L98.5 MONDO:equivalentTo Mucinosis of the skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lichen myxedematosus @@ -1185,36 +1182,36 @@ MONDO:0018460 Eales disease ICD10CM:H35.06 MONDO:equivalentTo Retinal vasculitis MONDO:0018477 bilirubin encephalopathy ICD10CM:P57 MONDO:equivalentTo Kernicterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kernicterus MONDO:0018479 congenital adrenal hyperplasia ICD10CM:E25.0 MONDO:equivalentTo Congenital adrenogenital disorders associated with enzyme deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital adrenal hyperplasia MONDO:0018544 adrenoleukodystrophy ICD10CM:E71.52 MONDO:equivalentTo X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked adrenoleukodystrophy -MONDO:0018551 patent urachus ICD10CM:Q64.4 MONDO:equivalentTo Malformation of urachus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym patent urachus MONDO:0018551 patent urachus ICD10CM:Q64.4 MONDO:equivalentTo Malformation of urachus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym patent urachus +MONDO:0018551 patent urachus ICD10CM:Q64.4 MONDO:equivalentTo Malformation of urachus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym patent urachus MONDO:0018570 hypophosphatasia ICD10CM:E83.39 MONDO:equivalentTo Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypophosphatasia MONDO:0018623 postpartum psychosis ICD10CM:F53.1 MONDO:equivalentTo Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis MONDO:0018623 postpartum psychosis ICD10CM:F53.1 MONDO:equivalentTo Puerperal psychosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label puerperal psychosis MONDO:0018646 sclerosing cholangitis ICD10CM:K83.01 MONDO:equivalentTo Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis -MONDO:0018646 sclerosing cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis MONDO:0018646 sclerosing cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis MONDO:0018690 Holmes-Adie syndrome ICD10CM:H57.05 MONDO:equivalentTo Tonic pupil semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonic pupil MONDO:0018695 avian influenza ICD10CM:J09.X MONDO:equivalentTo Influenza due to identified novel influenza A virus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym avian influenza -MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cicatricial pemphigoid +MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid MONDO:0018755 scorpion envenomation ICD10CM:T63.2 MONDO:equivalentTo Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion MONDO:0018755 scorpion envenomation ICD10CM:T63.2X MONDO:equivalentTo Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion -MONDO:0018768 familial cold autoinflammatory syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome MONDO:0018768 familial cold autoinflammatory syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome +MONDO:0018768 familial cold autoinflammatory syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome MONDO:0018838 lissencephaly spectrum disorders ICD10CM:Q04.3 MONDO:equivalentTo Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly MONDO:0018849 dentinogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta MONDO:0018849 dentinogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentinogenesis imperfecta MONDO:0018850 proliferating trichilemmal cyst ICD10CM:L72.11 MONDO:equivalentTo Pilar cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pilar cyst MONDO:0018857 creeping myiasis ICD10CM:B87.0 MONDO:equivalentTo Cutaneous myiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym creeping myiasis -MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloblastic leukemia +MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia +MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloblastic leukemia MONDO:0018881 myelodysplastic syndrome ICD10CM:D46 MONDO:equivalentTo Myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndromes MONDO:0018894 distal hereditary motor neuropathy ICD10CM:G12.1 MONDO:equivalentTo Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy +MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sideropenic dysphagia MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelly-paterson syndrome MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plummer-vinson syndrome -MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sideropenic dysphagia MONDO:0018896 thrombotic thrombocytopenic purpura ICD10CM:M31.19 MONDO:equivalentTo Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombotic thrombocytopenic purpura MONDO:0018903 sarcocystosis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosporidiosis MONDO:0018903 sarcocystosis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcocystosis @@ -1223,8 +1220,8 @@ MONDO:0018921 Meckel syndrome ICD10CM:Q61.9 MONDO:equivalentTo Cystic kidney dis MONDO:0018922 cold agglutinin disease ICD10CM:D59.12 MONDO:equivalentTo Cold autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cold agglutinin disorder MONDO:0018925 familial or sporadic hemiplegic migraine ICD10CM:G43.4 MONDO:equivalentTo Hemiplegic migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemiplegic migraine MONDO:0018938 mucopolysaccharidosis type 4 ICD10CM:E76.219 MONDO:equivalentTo Morquio mucopolysaccharidoses, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome -MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore disorder MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiminicore disorder +MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore disorder MONDO:0018949 distal myopathy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal muscular dystrophy MONDO:0018962 common mesentery ICD10CM:Q43.3 MONDO:equivalentTo Congenital malformations of intestinal fixation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym universal mesentery MONDO:0018963 hereditary methemoglobinemia ICD10CM:D74.0 MONDO:equivalentTo Congenital methemoglobinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital methemoglobinemia @@ -1233,38 +1230,36 @@ MONDO:0018975 neurofibromatosis type 1 ICD10CM:Q85.01 MONDO:equivalentTo Neurofi MONDO:0018984 Oroya fever ICD10CM:A44.0 MONDO:equivalentTo Systemic bartonellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oroya fever MONDO:0018984 Oroya fever ICD10CM:A44.0 MONDO:equivalentTo Systemic bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oroya fever MONDO:0018992 IgG4-related thyroid disease ICD10CM:E06.5 MONDO:equivalentTo Other chronic thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riedel thyroiditis -MONDO:0018997 Noonan syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome MONDO:0018997 Noonan syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome +MONDO:0018997 Noonan syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephronophthisis -MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephronophthisis -MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele -MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos +MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele +MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos +MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele +MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label takotsubo syndrome MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy -MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome MONDO:0019025 extracutaneous mastocytoma ICD10CM:D47.09 MONDO:equivalentTo Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extracutaneous mastocytoma MONDO:0019025 extracutaneous mastocytoma ICD10CM:D47.09 MONDO:equivalentTo Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym extracutaneous mastocytoma MONDO:0019034 accessory pancreas ICD10CM:Q45.3 MONDO:equivalentTo Other congenital malformations of pancreas and pancreatic duct semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym accessory pancreas -MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia -MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive supranuclear palsy MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive supranuclear ophthalmoplegia +MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive supranuclear palsy +MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-transplant lymphoproliferative disorder MONDO:0019100 neuromyelitis optica ICD10CM:G36.0 MONDO:equivalentTo Neuromyelitis optica [Devic] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica -MONDO:0019121 pneumocystosis ICD10CM:F16 MONDO:equivalentTo Hallucinogen related disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcp MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein c deficiency MONDO:0019147 myiasis ICD10CM:B87.9 MONDO:equivalentTo Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified MONDO:0019148 Wolman disease ICD10CM:E75.5 MONDO:equivalentTo Other lipid storage disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolmans disorder MONDO:0019154 androgen insensitivity syndrome ICD10CM:E34.51 MONDO:equivalentTo Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldberg-maxwell syndrome -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts ICD10CM:D46.1 MONDO:equivalentTo Refractory anemia with ring sideroblasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rars MONDO:0019157 myelodysplastic syndrome with ring sideroblasts ICD10CM:D46.1 MONDO:equivalentTo Refractory anemia with ring sideroblasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia with ring sideroblasts MONDO:0019165 central precocious puberty ICD10CM:E22.8 MONDO:equivalentTo Other hyperfunction of pituitary gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central precocious puberty -MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica +MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura MONDO:0019168 pyomyositis ICD10CM:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis MONDO:0019172 aniridia ICD10CM:Q13.1 MONDO:equivalentTo Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia MONDO:0019187 Axenfeld-Rieger syndrome ICD10CM:Q13.81 MONDO:equivalentTo Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riegers anomaly @@ -1278,28 +1273,28 @@ MONDO:0019203 acute interstitial pneumonia ICD10CM:J84.114 MONDO:equivalentTo Ac MONDO:0019210 cutaneous neuroendocrine carcinoma ICD10CM:C4A MONDO:equivalentTo Merkel cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label merkel cell carcinoma MONDO:0019212 disseminated superficial actinic porokeratosis ICD10CM:L56.5 MONDO:equivalentTo Disseminated superficial actinic porokeratosis (DSAP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated superficial actinic porokeratosis MONDO:0019260 adult neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kufs disorder -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym batten disorder MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spielmeyer-vogt disorder +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym batten disorder MONDO:0019287 ectodermal dysplasia syndrome ICD10CM:Q82.4 MONDO:equivalentTo Ectodermal dysplasia (anhidrotic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia MONDO:0019314 cutaneous mastocytoma ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma -MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis +MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maculopapular cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0019319 verrucous nevus ICD10CM:Q82.5 MONDO:equivalentTo Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verrucous nevus -MONDO:0019338 sarcoidosis ICD10CM:D80-D89 MONDO:equivalentTo Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis MONDO:0019338 sarcoidosis ICD10CM:D80-D89 MONDO:equivalentTo Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis +MONDO:0019338 sarcoidosis ICD10CM:D80-D89 MONDO:equivalentTo Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis MONDO:0019342 Seckel syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seckel syndrome -MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome +MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome MONDO:0019355 adult-onset Still disease ICD10CM:M06.1 MONDO:equivalentTo Adult-onset Still's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset stills disorder MONDO:0019359 Rocky mountain spotted fever ICD10CM:A77.0 MONDO:equivalentTo Spotted fever due to Rickettsia rickettsii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rocky mountain spotted fever MONDO:0019360 rickettsialpox ICD10CM:A79.1 MONDO:equivalentTo Rickettsialpox due to Rickettsia akari semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vesicular rickettsiosis MONDO:0019365 scrub typhus ICD10CM:A75.3 MONDO:equivalentTo Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsutsugamushi fever MONDO:0019367 regional odontodysplasia ICD10CM:K00.4 MONDO:equivalentTo Disturbances in tooth formation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym regional odontodysplasia MONDO:0019376 West-Nile encephalitis ICD10CM:A92.31 MONDO:equivalentTo West Nile virus infection with encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym west nile encephalitis -MONDO:0019378 la Crosse encephalitis ICD10CM:A83.5 MONDO:equivalentTo California encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label california encephalitis MONDO:0019378 la Crosse encephalitis ICD10CM:A83.5 MONDO:equivalentTo California encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym la crosse encephalitis +MONDO:0019378 la Crosse encephalitis ICD10CM:A83.5 MONDO:equivalentTo California encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label california encephalitis MONDO:0019384 encephalitis lethargica ICD10CM:A85.8 MONDO:equivalentTo Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalitis lethargica MONDO:0019384 encephalitis lethargica ICD10CM:A85.8 MONDO:equivalentTo Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym encephalitis lethargica MONDO:0019391 Fanconi anemia ICD10CM:D61.09 MONDO:equivalentTo Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconis anemia @@ -1309,16 +1304,16 @@ MONDO:0019458 acute basophilic leukemia ICD10CM:C94.8 MONDO:equivalentTo Other s MONDO:0019462 splenic marginal zone lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma MONDO:0019462 splenic marginal zone lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym splenic marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodal marginal zone lymphoma -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm ICD10CM:C86.4 MONDO:equivalentTo Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma MONDO:0019467 CD4+/CD56+ hematodermic neoplasm ICD10CM:C86.4 MONDO:equivalentTo Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm ICD10CM:C86.4 MONDO:equivalentTo Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma MONDO:0019469 T-cell large granular lymphocyte leukemia ICD10CM:C91.Z MONDO:equivalentTo Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell large granular lymphocytic leukemia -MONDO:0019470 aggressive NK-cell leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aggressive nk-cell leukemia MONDO:0019470 aggressive NK-cell leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aggressive nk-cell leukemia -MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:C86.0 MONDO:equivalentTo Extranodal NK/T-cell lymphoma, nasal type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal nk/t-cell lymphoma, nasal type +MONDO:0019470 aggressive NK-cell leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aggressive nk-cell leukemia MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:M31.2 MONDO:equivalentTo Lethal midline granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal midline granuloma +MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:C86.0 MONDO:equivalentTo Extranodal NK/T-cell lymphoma, nasal type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal nk/t-cell lymphoma, nasal type MONDO:0019473 enteropathy-associated T-cell lymphoma ICD10CM:C86.2 MONDO:equivalentTo Enteropathy-type (intestinal) T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enteropathy associated t-cell lymphoma -MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langerhans cell sarcoma MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym langerhans cell sarcoma +MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langerhans cell sarcoma MONDO:0019487 epilepsy with myoclonic absences ICD10CM:G40.4 MONDO:equivalentTo Other generalized epilepsy and epileptic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy with myoclonic absences MONDO:0019498 tungiasis ICD10CM:B88.1 MONDO:equivalentTo Tungiasis [sandflea infestation] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis MONDO:0019499 Turner syndrome ICD10CM:Q96.0 MONDO:equivalentTo Karyotype 45, X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyotype 45, x @@ -1326,10 +1321,10 @@ MONDO:0019507 amelogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditar MONDO:0019509 cutaneous leukocytoclastic angiitis ICD10CM:M31.0 MONDO:equivalentTo Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis MONDO:0019533 paroxysmal cold hemoglobinuria ICD10CM:D59.6 MONDO:equivalentTo Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria MONDO:0019537 hemoglobin D disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disorder -MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis -MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus erythematosus profundus +MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis +MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus erythematosus profundus MONDO:0019562 localized scleroderma ICD10CM:L94.0 MONDO:equivalentTo Localized scleroderma [morphea] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma MONDO:0019565 hereditary von Willebrand disease ICD10CM:D69.8 MONDO:equivalentTo Other specified hemorrhagic conditions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vascular pseudohemophilia MONDO:0019576 telangiectasia macularis eruptiva perstans ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym telangiectasia macularis eruptiva perstans @@ -1343,8 +1338,8 @@ MONDO:0019773 myelomeningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semap MONDO:0019795 acalvaria ICD10CM:Q00.0 MONDO:equivalentTo Anencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrania MONDO:0019796 acrocephalosyndactyly ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrocephalosyndactyly MONDO:0019796 acrocephalosyndactyly ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrocephalosyndactyly -MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal crisis MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addisonian crisis +MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal crisis MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocortical crisis MONDO:0019803 angioma serpiginosum ICD10CM:L81.7 MONDO:equivalentTo Pigmented purpuric dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angioma serpiginosum MONDO:0019804 tracheomalacia ICD10CM:Q32.0 MONDO:equivalentTo Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tracheomalacia @@ -1356,8 +1351,8 @@ MONDO:0019932 isolated partial vaginal agenesis ICD10CM:Q52.0 MONDO:equivalentTo MONDO:0019944 Eisenmenger syndrome ICD10CM:I27.83 MONDO:equivalentTo Eisenmenger's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eisenmengers syndrome MONDO:0019954 pancreatic neuroendocrine tumor ICD10CM:D13.7 MONDO:equivalentTo Benign neoplasm of endocrine pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym islet cell tumor MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niacin deficiency -MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pellagra +MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pellagra MONDO:0019978 Robinow syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-silverman-smith syndrome MONDO:0020076 myeloproliferative neoplasm ICD10CM:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disorder @@ -1378,30 +1373,29 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly ICD10CM:Q26.3 M MONDO:0020481 myotonia fluctuans ICD10CM:G71.19 MONDO:equivalentTo Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans MONDO:0020482 myotonia permanens ICD10CM:G71.19 MONDO:equivalentTo Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia permanens MONDO:0020500 Marburg hemorrhagic fever ICD10CM:A98.3 MONDO:equivalentTo Marburg virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marburg virus disorder -MONDO:0020502 yellow fever ICD10CM:A95.1 MONDO:equivalentTo Urban yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urban yellow fever MONDO:0020502 yellow fever ICD10CM:A95.0 MONDO:equivalentTo Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jungle yellow fever +MONDO:0020502 yellow fever ICD10CM:A95.1 MONDO:equivalentTo Urban yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urban yellow fever MONDO:0020502 yellow fever ICD10CM:A95.0 MONDO:equivalentTo Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sylvatic yellow fever +MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma MONDO:0020517 eosinophilic granuloma ICD10CM:K13.4 MONDO:equivalentTo Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma MONDO:0020517 eosinophilic granuloma ICD10CM:K13.4 MONDO:equivalentTo Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma -MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma -MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency ICD10CM:E71.310 MONDO:equivalentTo Long chain/very long chain acyl CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcad MONDO:0020532 spirillary rat-bite fever ICD10CM:A25.0 MONDO:equivalentTo Spirillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sodoku -MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptobacillary rat-bite fever +MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever +MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym invasive hydatidiform mole MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorioadenoma destruens MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym invasive hydatidiform mole -MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym invasive hydatidiform mole MONDO:0020567 apnea of prematurity ICD10CM:P28.4 MONDO:equivalentTo Other apnea of newborn semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apnea of prematurity -MONDO:0020579 mucositis ICD10CM:K12.3 MONDO:equivalentTo Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucositis MONDO:0020579 mucositis ICD10CM:K12.3 MONDO:equivalentTo Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucositis -MONDO:0020696 vitamin B12 deficiency ICD10CM:E53.8 MONDO:equivalentTo Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12 deficiency +MONDO:0020579 mucositis ICD10CM:K12.3 MONDO:equivalentTo Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucositis MONDO:0020696 vitamin B12 deficiency ICD10CM:E53.8 MONDO:equivalentTo Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitamin b12 deficiency +MONDO:0020696 vitamin B12 deficiency ICD10CM:E53.8 MONDO:equivalentTo Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12 deficiency MONDO:0020732 progeria ICD10CM:E34.8 MONDO:equivalentTo Other specified endocrine disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020806 sinoatrial block ICD10CM:I45.5 MONDO:equivalentTo Other specified heart block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinoatrial block -MONDO:0020815 dentigerous cyst ICD10CM:K09.0 MONDO:equivalentTo Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentigerous cyst MONDO:0020815 dentigerous cyst ICD10CM:K09.0 MONDO:equivalentTo Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentigerous cyst +MONDO:0020815 dentigerous cyst ICD10CM:K09.0 MONDO:equivalentTo Developmental odontogenic cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentigerous cyst MONDO:0020830 diaphragmitis ICD10CM:J98.6 MONDO:equivalentTo Disorders of diaphragm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphragmatitis MONDO:0020989 hereditary persistence of fetal hemoglobin ICD10CM:D56.4 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin [HPFH] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin MONDO:0021001 hemochromatosis type 1 ICD10CM:E83.11 MONDO:equivalentTo Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis @@ -1411,8 +1405,8 @@ MONDO:0021061 neurofibromatosis ICD10CM:Q85.02 MONDO:equivalentTo Neurofibromato MONDO:0021063 malignant colon neoplasm ICD10CM:C18 MONDO:equivalentTo Malignant neoplasm of colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of colon MONDO:0021104 alcoholic fatty liver disease ICD10CM:K70.0 MONDO:equivalentTo Alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic fatty liver MONDO:0021112 scrotum cancer ICD10CM:C63.2 MONDO:equivalentTo Malignant neoplasm of scrotum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of scrotum -MONDO:0021132 tertiary hyperparathyroidism ICD10CM:E21.2 MONDO:equivalentTo Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism MONDO:0021132 tertiary hyperparathyroidism ICD10CM:E21.2 MONDO:equivalentTo Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tertiary hyperparathyroidism +MONDO:0021132 tertiary hyperparathyroidism ICD10CM:E21.2 MONDO:equivalentTo Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism MONDO:0021287 carcinoma in situ of epiglottis ICD10CM:D02.0 MONDO:equivalentTo Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis MONDO:0021287 carcinoma in situ of epiglottis ICD10CM:D02.0 MONDO:equivalentTo Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoma in situ of epiglottis MONDO:0021311 malignant tumor of parathyroid gland ICD10CM:C75.0 MONDO:equivalentTo Malignant neoplasm of parathyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parathyroid gland @@ -1427,16 +1421,16 @@ MONDO:0021497 benign neoplasm of cerebrum ICD10CM:D33.0 MONDO:equivalentTo Benig MONDO:0021499 benign neoplasm of cerebellum ICD10CM:D33.1 MONDO:equivalentTo Benign neoplasm of brain, infratentorial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of cerebellum MONDO:0021500 benign neoplasm of spleen ICD10CM:D13.9 MONDO:equivalentTo Benign neoplasm of ill-defined sites within the digestive system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of spleen MONDO:0021507 benign neoplasm of brain stem ICD10CM:D33.1 MONDO:equivalentTo Benign neoplasm of brain, infratentorial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of brain stem -MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lentigo MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lentigo +MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lentigo MONDO:0021777 acute rheumatic heart disease ICD10CM:I01.8 MONDO:equivalentTo Other acute rheumatic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute rheumatic heart disorder MONDO:0021783 streptococcal sore throat ICD10CM:J02.0 MONDO:equivalentTo Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptococcal sore throat MONDO:0021783 streptococcal sore throat ICD10CM:J02.0 MONDO:equivalentTo Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label streptococcal pharyngitis MONDO:0021804 silicotuberculosis ICD10CM:J65 MONDO:equivalentTo Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym silicotuberculosis MONDO:0021804 silicotuberculosis ICD10CM:J65 MONDO:equivalentTo Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silicotuberculosis -MONDO:0021902 aortopulmonary window ICD10CM:Q21.4 MONDO:equivalentTo Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortopulmonary window -MONDO:0021902 aortopulmonary window ICD10CM:Q21.4 MONDO:equivalentTo Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortopulmonary septal defect MONDO:0021902 aortopulmonary window ICD10CM:Q21.4 MONDO:equivalentTo Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortopulmonary window +MONDO:0021902 aortopulmonary window ICD10CM:Q21.4 MONDO:equivalentTo Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortopulmonary septal defect +MONDO:0021902 aortopulmonary window ICD10CM:Q21.4 MONDO:equivalentTo Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortopulmonary window MONDO:0021953 tuberculous fibrosis of lung ICD10CM:A15.0 MONDO:equivalentTo Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous fibrosis of lung MONDO:0021953 tuberculous fibrosis of lung ICD10CM:A15.0 MONDO:equivalentTo Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous fibrosis of lung MONDO:0022308 corticobasal degeneration disorder ICD10CM:G31.85 MONDO:equivalentTo Corticobasal degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label corticobasal degeneration @@ -1444,8 +1438,8 @@ MONDO:0022428 aluminosis ICD10CM:J63.0 MONDO:equivalentTo Aluminosis (of lung) s MONDO:0022430 persistent fetal circulation syndrome ICD10CM:P29.3 MONDO:equivalentTo Persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label persistent fetal circulation MONDO:0022792 coccygodynia ICD10CM:M53.3 MONDO:equivalentTo Sacrococcygeal disorders, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coccygodynia MONDO:0022968 dextrocardia with situs inversus ICD10CM:Q89.3 MONDO:equivalentTo Situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dextrocardia with situs inversus -MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites +MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral pericarditis MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral pericarditis MONDO:0023419 hyperprolinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolinemia @@ -1455,19 +1449,19 @@ MONDO:0024327 chronic renal failure syndrome ICD10CM:N18.9 MONDO:equivalentTo Ch MONDO:0024332 perennial allergic rhinitis ICD10CM:J30.89 MONDO:equivalentTo Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perennial allergic rhinitis MONDO:0024332 perennial allergic rhinitis ICD10CM:J30.89 MONDO:equivalentTo Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perennial allergic rhinitis MONDO:0024470 benign chondrogenic neoplasm ICD10CM:D21 MONDO:equivalentTo Other benign neoplasms of connective and other soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neoplasm of cartilage -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marseilles fever MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever -MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis +MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis MONDO:0024608 dientamoebiasis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal trichomoniasis -MONDO:0024614 neurotic depression ICD10CM:F34.1 MONDO:equivalentTo Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression MONDO:0024614 neurotic depression ICD10CM:F34.1 MONDO:equivalentTo Dysthymic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic depression -MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthogranuloma +MONDO:0024614 neurotic depression ICD10CM:F34.1 MONDO:equivalentTo Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma +MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthogranuloma MONDO:0024633 hypertensive nephropathy ICD10CM:I12 MONDO:equivalentTo Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertensive nephropathy MONDO:0024633 hypertensive nephropathy ICD10CM:I12 MONDO:equivalentTo Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertensive nephropathy MONDO:0024636 inflammation of heart layer ICD10CM:I51.89 MONDO:equivalentTo Other ill-defined heart diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carditis @@ -1479,8 +1473,8 @@ MONDO:0025028 vesicular stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms MONDO:0025303 anaplasmosis ICD10CM:A79.82 MONDO:equivalentTo Anaplasmosis [A. phagocytophilum] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplasmosis MONDO:0025598 pneumonia caused by chlamydia ICD10CM:J16.0 MONDO:equivalentTo Chlamydial pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chlamydial pneumonia MONDO:0030705 Trichomonas prostatitis ICD10CM:A59.02 MONDO:equivalentTo Trichomonal prostatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichomonal prostatitis -MONDO:0030708 Trichomonas cervicitis ICD10CM:A59.09 MONDO:equivalentTo Other urogenital trichomoniasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichomonas cervicitis MONDO:0030708 Trichomonas cervicitis ICD10CM:A59.09 MONDO:equivalentTo Other urogenital trichomoniasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trichomonas cervicitis +MONDO:0030708 Trichomonas cervicitis ICD10CM:A59.09 MONDO:equivalentTo Other urogenital trichomoniasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichomonas cervicitis MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease ICD10CM:A81.09 MONDO:equivalentTo Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iatrogenic creutzfeldt-jakob disorder MONDO:0037738 cauda equina cancer ICD10CM:C72.1 MONDO:equivalentTo Malignant neoplasm of cauda equina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cauda equina MONDO:0041086 mixed anxiety and depressive disorder ICD10CM:F41.8 MONDO:equivalentTo Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed anxiety and depressive disorder @@ -1488,8 +1482,8 @@ MONDO:0041086 mixed anxiety and depressive disorder ICD10CM:F41.8 MONDO:equivale MONDO:0041182 polymorphic light eruption ICD10CM:L56.4 MONDO:equivalentTo Polymorphous light eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption MONDO:0041259 diphtheritic myocarditis ICD10CM:A36.81 MONDO:equivalentTo Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis MONDO:0041259 diphtheritic myocarditis ICD10CM:A36.81 MONDO:equivalentTo Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diphtheritic myocarditis -MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome +MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome MONDO:0041879 staphylococcus aureus pneumonia ICD10CM:J15.21 MONDO:equivalentTo Pneumonia due to staphylococcus aureus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to staphylococcus aureus MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated candidiasis @@ -1497,40 +1491,36 @@ MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icte MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weils disorder MONDO:0043187 pulmonary artery agenesis ICD10CM:Q25.79 MONDO:equivalentTo Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery MONDO:0043219 migraine with brainstem aura ICD10CM:G43.1 MONDO:equivalentTo Migraine with aura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basilar migraine -MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mallory-weiss syndrome MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mallory-weiss syndrome +MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mallory-weiss syndrome MONDO:0043472 ectopic ACTH secretion syndrome ICD10CM:E24.3 MONDO:equivalentTo Ectopic ACTH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectopic acth syndrome MONDO:0043475 Adams-Stokes syndrome ICD10CM:I45.9 MONDO:equivalentTo Conduction disorder, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stokes-adams syndrome MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia -MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrainous neuralgia MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym histamine cephalgia +MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrainous neuralgia MONDO:0043683 Leriche syndrome ICD10CM:I74.09 MONDO:equivalentTo Other arterial embolism and thrombosis of abdominal aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leriches syndrome MONDO:0043693 alcoholic liver diseases ICD10CM:K70 MONDO:equivalentTo Alcoholic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic liver disorder MONDO:0043731 lytic metastatic bone lesion ICD10CM:M89.5 MONDO:equivalentTo Osteolysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteolysis MONDO:0043775 respiratory paralysis ICD10CM:J98.6 MONDO:equivalentTo Disorders of diaphragm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis of diaphragm -MONDO:0043789 serum sickness ICD10CM:T80.6 MONDO:equivalentTo Other serum reactions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serum sickness MONDO:0043789 serum sickness ICD10CM:T80.6 MONDO:equivalentTo Other serum reactions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym serum sickness +MONDO:0043789 serum sickness ICD10CM:T80.6 MONDO:equivalentTo Other serum reactions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serum sickness MONDO:0043919 radiation pneumonitis ICD10CM:J70.0 MONDO:equivalentTo Acute pulmonary manifestations due to radiation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radiation pneumonitis MONDO:0043919 radiation pneumonitis ICD10CM:J70.0 MONDO:equivalentTo Acute pulmonary manifestations due to radiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radiation pneumonitis -MONDO:0044033 posterior leukoencephalopathy syndrome ICD10CM:I67.83 MONDO:equivalentTo Posterior reversible encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pres MONDO:0044033 posterior leukoencephalopathy syndrome ICD10CM:I67.83 MONDO:equivalentTo Posterior reversible encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior reversible encephalopathy syndrome -MONDO:0044144 panic disorder with agoraphobia ICD10CM:F40.01 MONDO:equivalentTo Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panic disorder with agoraphobia MONDO:0044144 panic disorder with agoraphobia ICD10CM:F40.01 MONDO:equivalentTo Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panic disorder with agoraphobia +MONDO:0044144 panic disorder with agoraphobia ICD10CM:F40.01 MONDO:equivalentTo Agoraphobia with panic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panic disorder with agoraphobia MONDO:0044816 familial idiopathic torsion dystonia ICD10CM:G24.1 MONDO:equivalentTo Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic familial dystonia -MONDO:0044903 myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis +MONDO:0044903 myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0045044 ligament disorder ICD10CM:M24.2 MONDO:equivalentTo Disorder of ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ligament MONDO:0100006 secondary mast cell activation syndrome ICD10CM:D89.43 MONDO:equivalentTo Secondary mast cell activation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym secondary mast cell activation syndrome -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mis-c -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multisystem inflammatory syndrome in children MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric inflammatory multisystem syndrome -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pims +MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multisystem inflammatory syndrome in children MONDO:0100185 immune reconstitution inflammatory syndrome ICD10CM:D89.3 MONDO:equivalentTo Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune reconstitution syndrome MONDO:0100185 immune reconstitution inflammatory syndrome ICD10CM:D89.3 MONDO:equivalentTo Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune reconstitution inflammatory syndrome MONDO:0100193 chronic liver failure ICD10CM:K72.1 MONDO:equivalentTo Chronic hepatic failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym end stage liver disorder MONDO:0100241 inherited thrombocytopenia ICD10CM:D69.42 MONDO:equivalentTo Congenital and hereditary thrombocytopenia purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombocytopenia MONDO:0100244 paroxysmal nocturnal hemoglobinuria ICD10CM:D59.5 MONDO:equivalentTo Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal nocturnal hemoglobinuria -MONDO:0100319 COVID-19–associated multisystem inflammatory syndrome in adults ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mis-a MONDO:0100370 acute hepatitis B virus infection ICD10CM:B16 MONDO:equivalentTo Acute hepatitis B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatitis b MONDO:0100371 acute hepatitis C virus infection ICD10CM:B17.1 MONDO:equivalentTo Acute hepatitis C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatitis c MONDO:0100428 progressive bulbar palsy of childhood ICD10CM:G12.1 MONDO:equivalentTo Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive bulbar palsy of childhood diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv index 53e840d5..13f45ed0 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv @@ -34,6 +34,7 @@ MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant MONDO:0004957 mucinous adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0005004 clear cell adenocarcinoma NCIT:C4156 MONDO:equivalentTo Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma MONDO:0005011 Crohn disease NCIT:C37262 MONDO:equivalentTo Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia NCIT:C2872 MONDO:equivalentTo Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia MONDO:0005297 urethritis NCIT:C27079 MONDO:equivalentTo Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis MONDO:0005342 IgA glomerulonephritis NCIT:C35280 MONDO:equivalentTo Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis MONDO:0005486 tooth agenesis NCIT:C171426 MONDO:equivalentTo Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia @@ -49,6 +50,7 @@ MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma s MONDO:0006717 cutaneous fibrous histiocytoma NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm MONDO:0007078 pseudohypoparathyroidism type 1A NCIT:C118434 MONDO:equivalentTo Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy MONDO:0007103 amyotrophic lateral sclerosis type 1 NCIT:C168749 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 +MONDO:0007356 Lynch syndrome 1 NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome MONDO:0007751 hypercholesterolemia, autosomal dominant, type B NCIT:C176014 MONDO:equivalentTo Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 MONDO:0007906 familial partial lipodystrophy, Dunnigan type NCIT:C165527 MONDO:equivalentTo Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 MONDO:0007967 melanoma and neural system tumor syndrome NCIT:C176905 MONDO:equivalentTo Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome @@ -77,6 +79,7 @@ MONDO:0011803 hereditary spastic paraplegia 7 NCIT:C181657 MONDO:equivalentTo Sp MONDO:0011951 amyotrophic lateral sclerosis type 6 NCIT:C168750 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia MONDO:0012077 amyotrophic lateral sclerosis type 8 NCIT:C168751 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 NCIT:C173471 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 +MONDO:0012249 Lynch syndrome 2 NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 NCIT:C177248 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 MONDO:0012790 amyotrophic lateral sclerosis type 10 NCIT:C168752 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia MONDO:0012945 amyotrophic lateral sclerosis type 11 NCIT:C168753 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 @@ -125,7 +128,6 @@ MONDO:0017615 benign familial infantile epilepsy NCIT:C183308 MONDO:equivalentTo MONDO:0017858 acute erythroid leukemia NCIT:C7152 MONDO:equivalentTo Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia MONDO:0017884 papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma MONDO:0018071 trisomy 18 NCIT:C101362 MONDO:equivalentTo Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome -MONDO:0018079 thymic epithelial neoplasm NCIT:C69122 MONDO:equivalentTo Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten MONDO:0018369 immature ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma MONDO:0018459 isolated glycerol kinase deficiency NCIT:C124845 MONDO:equivalentTo Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia MONDO:0018473 hyperlipoproteinemia type 3 NCIT:C34710 MONDO:equivalentTo Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia @@ -140,7 +142,6 @@ MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Ce MONDO:0019473 enteropathy-associated T-cell lymphoma NCIT:C150495 MONDO:equivalentTo Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma MONDO:0019496 neuroendocrine neoplasm NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor MONDO:0019499 Turner syndrome NCIT:C85210 MONDO:equivalentTo XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome -MONDO:0019810 toxic epidermal necrolysis NCIT:C69122 MONDO:equivalentTo Ten semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ten MONDO:0020084 lymphoproliferative disease associated with primary immune disease NCIT:C150673 MONDO:equivalentTo Lymphoproliferative Disease Associated with Primary Immune Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative disorder associated with primary immune disorder MONDO:0021651 synpolydactyly NCIT:C125597 MONDO:equivalentTo Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly MONDO:0024636 inflammation of heart layer NCIT:C168128 MONDO:equivalentTo Carditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carditis @@ -159,7 +160,7 @@ MONDO:0100330 disease arising from reactivation of latent virus NCIT:C9494 MONDO MONDO:0100344 Bartter disease type 1 NCIT:C178412 MONDO:equivalentTo Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 MONDO:0700048 hand-foot syndrome NCIT:C27177 MONDO:equivalentTo Palmar-Plantar Erythrodysthesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmar-plantar erythrodysthesia MONDO:0700119 distal chromosome 18q deletion syndrome NCIT:C130986 MONDO:equivalentTo Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome -MONDO:0700219 neoplastic meningitis NCIT:C3814 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges MONDO:0700219 neoplastic meningitis NCIT:C27383 MONDO:equivalentTo Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis +MONDO:0700219 neoplastic meningitis NCIT:C3814 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges MONDO:0800029 interstitial lung disease 2 NCIT:C35715 MONDO:equivalentTo Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:8000006 WHIM syndrome 1 NCIT:C176819 MONDO:equivalentTo Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 2d9050ef..1355dcfc 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -1,9 +1,12 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant -MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 OMIM:607507 MONDO:equivalentTo psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 OMIM:607507 MONDO:equivalentTo psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 +MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder +MONDO:0030983 Waardenburg syndrome, IIa 2F OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f +MONDO:0031045 arthrogryposis, distal, IIa 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 +MONDO:0031047 stickler syndrome, IIa 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 +MONDO:0031061 nephrotic syndrome, IIa 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii +MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii +MONDO:0031084 amelogenesis imperfecta, IIa 1K OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index a30d7a49..75acda0c 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,7 +1,34 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0030805 spinocerebellar ataxia 49 OMIM:619806 MONDO:equivalentTo spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 +MONDO:0030957 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 +MONDO:0030958 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections +MONDO:0030972 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 +MONDO:0030975 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 +MONDO:0030984 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 +MONDO:0031019 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive +MONDO:0031021 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 +MONDO:0031043 lymphatic malformation 12 OMIM:620014 MONDO:equivalentTo lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 +MONDO:0031044 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 +MONDO:0031052 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus +MONDO:0031055 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 +MONDO:0031057 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic +MONDO:0031060 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive +MONDO:0031062 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 +MONDO:0031071 diamond-blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 +MONDO:0031077 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 +MONDO:0031083 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM:620062 MONDO:equivalentTo developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 -MONDO:0100232 psoriatic arthritis, susceptibility to OMIM:607507 MONDO:equivalentTo psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriatic arthritis, susceptibility to MONDO:0100292 Carey-Fineman-Ziter syndrome 2 OMIM:619941 MONDO:equivalentTo carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 2 MONDO:0850514 inclusion body myopathy and brain white matter abnormalities OMIM:619733 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities MONDO:0851095 KINSSHIP syndrome OMIM:619297 MONDO:equivalentTo kinsship syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 5ad8d16d..1c40861c 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,18 +1,14 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma -MONDO:0008932 premature centromere division Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0009221 femur-fibula-ulna complex Orphanet:633228 MONDO:equivalentTo Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pffd +MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma MONDO:0009424 Bartter disease type 2 Orphanet:620220 MONDO:equivalentTo Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 -MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome -MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome +MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome -MONDO:0016575 primary ciliary dyskinesia Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0018215 paraneoplastic neurologic syndrome Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcd -MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome +MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome +MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome MONDO:0030805 spinocerebellar ataxia 49 Orphanet:631106 MONDO:equivalentTo Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 MONDO:0031002 Baralle-Macken syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome MONDO:0032526 spinocerebellar ataxia 48 Orphanet:631103 MONDO:equivalentTo Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 diff --git a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv index 661d7f3e..a3c03bd8 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv @@ -8,7 +8,6 @@ MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orpha MONDO:0030073 Mitchell syndrome Orphanet:631248 MONDO:equivalentTo Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome MONDO:0044877 paraneoplastic cerebellar degeneration Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration MONDO:0100115 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0850001 congenital neuronal ceroid lipofuscinosis Orphanet:168486 MONDO:equivalentTo Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia MONDO:0850010 congenital optic disc excavation Orphanet:519333 MONDO:equivalentTo Congenital optic disc excavation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital optic disc excavation diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index bf586a42..f5de6ece 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 2, "ontology_anno_count": 10, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 3ca4b755..48fa5d23 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 7e7518b8..93464919 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index dc93cb18..604da7a7 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 44a3a531..75fea77e 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 13, "annotation_property_count_incl": 13, - "axiom_count": 369157, - "axiom_count_incl": 369157, - "class_count": 31205, - "class_count_incl": 31205, + "axiom_count": 369825, + "axiom_count_incl": 369825, + "class_count": 31254, + "class_count_incl": 31254, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 35634, - "logical_axiom_count_incl": 35634, + "logical_axiom_count": 35719, + "logical_axiom_count_incl": 35719, "obj_property_count": 6, "obj_property_count_incl": 6, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 31226, - "signature_entity_count_incl": 31226, + "signature_entity_count": 31275, + "signature_entity_count_incl": 31275, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 35634, - "tbox_axiom_count_incl": 35634, - "tboxrbox_axiom_count": 35634, - "tboxrbox_axiom_count_incl": 35634, + "tbox_axiom_count": 35719, + "tbox_axiom_count_incl": 35719, + "tboxrbox_axiom_count": 35719, + "tboxrbox_axiom_count_incl": 35719, "axiom_types": [ "AnnotationAssertion", "Declaration", @@ -63,22 +63,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 302303, - "Declaration": 31220, - "SubClassOf": 35634 + "AnnotationAssertion": 302837, + "Declaration": 31269, + "SubClassOf": 35719 }, "axiom_type_count_incl": { - "AnnotationAssertion": 302303, - "Declaration": 31220, - "SubClassOf": 35634 + "AnnotationAssertion": 302837, + "Declaration": 31269, + "SubClassOf": 35719 }, "class_expression_count": { - "Class": 102467, - "ObjectSomeValuesFrom": 14050 + "Class": 102686, + "ObjectSomeValuesFrom": 14071 }, "class_expression_count_incl": { - "Class": 102467, - "ObjectSomeValuesFrom": 14050 + "Class": 102686, + "ObjectSomeValuesFrom": 14071 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -95,35 +95,35 @@ "RO": "http://purl.obolibrary.org/obo/RO_" }, "namespace_axiom_count": { - "prefix_unknown": 78065, - "oboInOwl": 137340, - "MONDO": 18720, - "rdf": 6991, - "owl": 1230, - "IAO": 55189, - "skos": 59299, - "rdfs": 35804, - "biolink": 32597, - "CHR": 7432, - "SO": 16970, - "RO": 14056 + "prefix_unknown": 78244, + "oboInOwl": 137599, + "MONDO": 18750, + "rdf": 7003, + "owl": 1353, + "IAO": 55196, + "skos": 59381, + "rdfs": 35857, + "biolink": 32651, + "CHR": 7443, + "SO": 16999, + "RO": 14077 }, "namespace_axiom_count_incl": { - "prefix_unknown": 78065, - "oboInOwl": 137340, - "MONDO": 18720, - "rdf": 6991, - "owl": 1230, - "IAO": 55189, - "skos": 59299, - "rdfs": 35804, - "biolink": 32597, - "CHR": 7432, - "SO": 16970, - "RO": 14056 + "prefix_unknown": 78244, + "oboInOwl": 137599, + "MONDO": 18750, + "rdf": 7003, + "owl": 1353, + "IAO": 55196, + "skos": 59381, + "rdfs": 35857, + "biolink": 32651, + "CHR": 7443, + "SO": 16999, + "RO": 14077 }, "namespace_entity_count": { - "prefix_unknown": 29765, + "prefix_unknown": 29814, "oboInOwl": 3, "owl": 2, "xsd": 1, @@ -138,7 +138,7 @@ "RO": 6 }, "namespace_entity_count_incl": { - "prefix_unknown": 29765, + "prefix_unknown": 29814, "oboInOwl": 3, "owl": 2, "xsd": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 6d5143ac..32cf9bb9 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-24/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 29e379da..e8920e3c 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -406,7 +406,6 @@ - @@ -935,6 +934,7 @@ + @@ -8802,7 +8802,11 @@ + + + + @@ -29587,12 +29591,58 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -30457,7 +30507,6 @@ - @@ -30496,7 +30545,6 @@ - @@ -30696,6 +30744,7 @@ + diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index fcd1b533..8bfcfefb 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -4,7 +4,7 @@ DOID:0060034 dropped head syndrome False False False DOID:0060042 atypical autism False False False DOID:0060204 amyotrophic lateral sclerosis type 13 False False False DOID:0070020 autosomal dominant dyskeratosis congenita 4 False False False -DOID:0070136 autosomal dominant cutis laxa 2 False False False +DOID:0070141 autosomal recessive cutis laxa type II classic type False False False DOID:0070212 hereditary lymphedema I False False False DOID:0070306 post-cardiac arrest syndrome False False False DOID:0070309 absence epilepsy False False False @@ -1326,6 +1326,7 @@ DOID:11650 bronchopulmonary dysplasia False False False DOID:3125 multiple endocrine neoplasia False False False DOID:370 malignant olfactory nerve neoplasm False False False DOID:4857 diffuse astrocytoma False False False +DOID:5157 benign pleural mesothelioma False False False DOID:5889 anaplastic ependymoma False False False DOID:60001 pulmonary artery disease False False False DOID:60002 Bartholin's gland disease False False False @@ -1334,6 +1335,7 @@ DOID:60006 benign vascular tumor False False False DOID:60007 cerebrovascular benign neoplasm False False False DOID:6785 desmoplastic small round cell tumor False False False DOID:7154 anaplastic oligodendroglioma False False False +DOID:873 anaerobic pneumonia False False False DOID:2214 obsolete inherited blood coagulation disease False False True DOID:0040003 benzylpenicillin allergy False True False DOID:0040004 amoxicillin allergy False True False @@ -5411,11 +5413,11 @@ DOID:0070132 autosomal recessive cutis laxa type IIIA True False False DOID:0070133 autosomal recessive cutis laxa type IB True False False DOID:0070134 autosomal recessive cutis laxa type IIA True False False DOID:0070135 autosomal recessive cutis laxa type IA True False False +DOID:0070136 autosomal dominant cutis laxa 2 True False False DOID:0070137 autosomal recessive cutis laxa type IIB True False False DOID:0070138 autosomal recessive cutis laxa type IIIB True False False DOID:0070139 autosomal recessive cutis laxa type IC True False False DOID:0070140 autosomal recessive cutis laxa type IIC True False False -DOID:0070141 autosomal recessive cutis laxa type II classic type True False False DOID:0070142 autosomal dominant cutis laxa True False False DOID:0070143 autosomal recessive cutis laxa type III True False False DOID:0070144 autosomal recessive cutis laxa type I True False False @@ -11587,7 +11589,6 @@ DOID:5152 cellular neurofibroma True False False DOID:5153 atypical neurofibroma True False False DOID:5154 borna disease True False False DOID:5155 multiple mucosal neuroma True False False -DOID:5157 benign pleural mesothelioma True False False DOID:5158 pleural cancer True False False DOID:5160 arteriosclerosis obliterans True False False DOID:5161 Monckeberg arteriosclerosis True False False @@ -13147,7 +13148,6 @@ DOID:8717 decubitus ulcer True False False DOID:8719 in situ carcinoma True False False DOID:8725 vascular dementia True False False DOID:8729 milker's nodule True False False -DOID:873 anaerobic pneumonia True False False DOID:8731 carotid body cancer True False False DOID:8736 smallpox True False False DOID:8738 leukoplakia of penis True False False diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 1eb34131..8a32f21f 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -300,6 +300,7 @@ DOID:0080960 amelogenesis imperfecta type 2A6 DOID:0111721 amelogenesis imperfecta type 3 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 +DOID:873 anaerobic pneumonia DOID:5889 anaplastic ependymoma DOID:7154 anaplastic oligodendroglioma DOID:0080854 anaplastic pleomorphic xanthoastrocytoma @@ -343,7 +344,6 @@ DOID:0112373 autosomal dominant auditory neuropathy 3 DOID:0080720 autosomal dominant congenital deafness with onychodystrophy DOID:0080807 autosomal dominant craniodiaphyseal dysplasia DOID:0080801 autosomal dominant craniometaphyseal dysplasia -DOID:0070136 autosomal dominant cutis laxa 2 DOID:0070020 autosomal dominant dyskeratosis congenita 4 DOID:0080682 autosomal dominant familial visceral neuropathy DOID:0111269 autosomal dominant hyaline body myopathy @@ -362,6 +362,7 @@ DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens DOID:0111797 autosomal recessive congenital nystagmus DOID:0080802 autosomal recessive craniometaphyseal dysplasia +DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0081177 autosomal recessive intellectual developmental disorder 1 DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 DOID:0081186 autosomal recessive intellectual developmental disorder 11 @@ -438,6 +439,7 @@ DOID:0081117 benign familial infantile seizures 4 DOID:0081118 benign familial infantile seizures 5 DOID:0081119 benign familial infantile seizures 6 DOID:0081026 benign peritoneal solitary fibrous tumor +DOID:5157 benign pleural mesothelioma DOID:0080602 benign teratoma DOID:60006 benign vascular tumor DOID:0080772 beta-thalassemia intermedia diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 2d0fe443..814f3bdb 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -7364,7 +7364,11 @@ + + + + @@ -28149,12 +28153,58 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -28192,6 +28242,7 @@ + diff --git a/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv b/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv index beeb2334..9ddc89f4 100644 --- a/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv +++ b/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv @@ -2834,11 +2834,9 @@ ERROR deprecated_class_reference http://www.orpha.net/ORDO/Orphanet_C053 rdfs:su ERROR deprecated_class_reference http://www.orpha.net/ORDO/Orphanet_C053 rdfs:subClassOf http://www.orpha.net/ORDO/Orphanet_99987 ERROR deprecated_class_reference http://www.orpha.net/ORDO/Orphanet_C053 rdfs:subClassOf http://www.orpha.net/ORDO/Orphanet_C050 ERROR deprecated_class_reference https://omim.org/entry/103470 rdfs:subClassOf https://www.omim.org/phenotypicSeries/PS193500 -ERROR deprecated_class_reference https://omim.org/entry/300360 rdfs:subClassOf 17b03768-0f03-4395-ad8e-fe2105fb31e1genid61701 -ERROR deprecated_class_reference https://omim.org/entry/602067 rdfs:subClassOf 17b03768-0f03-4395-ad8e-fe2105fb31e1genid64753 -ERROR deprecated_class_reference https://omim.org/entry/611155 rdfs:subClassOf 17b03768-0f03-4395-ad8e-fe2105fb31e1genid72869 -ERROR deprecated_class_reference https://omim.org/entry/616964 rdfs:subClassOf 17b03768-0f03-4395-ad8e-fe2105fb31e1genid75855 +ERROR deprecated_class_reference https://omim.org/entry/600309 rdfs:subClassOf https://www.omim.org/phenotypicSeries/PS606215 ERROR deprecated_class_reference blank node owl:someValuesFrom https://omim.org/entry/103470 +ERROR deprecated_class_reference blank node owl:someValuesFrom https://omim.org/entry/600309 ERROR deprecated_class_reference blank node owl:someValuesFrom https://omim.org/entry/607636 ERROR duplicate_definition http://www.orpha.net/ORDO/Orphanet_93946 IAO:0000115 An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.@en ERROR duplicate_definition http://www.orpha.net/ORDO/Orphanet_93947 IAO:0000115 An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.@en @@ -4158,8 +4156,6 @@ ERROR duplicate_label DOID:0070308 rdfs:label rippling muscle disease 1 ERROR duplicate_label https://omim.org/entry/600332 rdfs:label rippling muscle disease 1 ERROR duplicate_label DOID:0111548 rdfs:label ring dermoid of cornea ERROR duplicate_label https://omim.org/entry/180550 rdfs:label ring dermoid of cornea -ERROR duplicate_label DOID:0110633 rdfs:label rigid spine muscular dystrophy 1 -ERROR duplicate_label https://omim.org/entry/602771 rdfs:label rigid spine muscular dystrophy 1 ERROR duplicate_label DOID:0060856 rdfs:label right atrial isomerism ERROR duplicate_label https://omim.org/entry/208530 rdfs:label right atrial isomerism ERROR duplicate_label DOID:1328 rdfs:label Rift Valley fever @@ -4410,121 +4406,6 @@ ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_93100 rdfs:label Renal ERROR duplicate_label https://icd.who.int/browse10/2019/en#/Q60.0 rdfs:label Renal agenesis, unilateral ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_1848 rdfs:label Renal agenesis, bilateral ERROR duplicate_label https://icd.who.int/browse10/2019/en#/Q60.1 rdfs:label Renal agenesis, bilateral -ERROR duplicate_label https://omim.org/entry/102570 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/102920 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/102930 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/102940 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/102970 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/107253 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/108400 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/117200 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/121000 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/124580 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/125510 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/126440 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/132860 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/133710 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/133730 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/133740 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/136670 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/138391 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/139220 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/139230 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/142420 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/142870 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/143070 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/143080 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/147410 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/147490 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/147684 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/151550 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/155960 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/163900 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/164710 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/164830 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/170950 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/171700 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/177860 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/179715 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/180330 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/180930 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/180940 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/183250 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/185450 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/185595 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/186690 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/186920 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/192070 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/193675 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/194520 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/194530 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/200930 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/204400 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/211420 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/212600 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/212700 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/221000 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/225360 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/231400 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/231610 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/239400 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/240100 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/242800 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/245500 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/249800 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/252030 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/253500 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/261660 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/264810 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/275600 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/300900 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/301880 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/304990 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/305650 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/306600 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/308210 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/308400 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/311700 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/312030 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/312530 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/313450 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/313460 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/313550 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/314350 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/314920 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/314940 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/314960 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/400000 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/424000 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/510000 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/600261 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/600499 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/600606 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/601050 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/601106 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/601169 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/601294 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/602029 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/602147 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/602456 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/603653 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/603793 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/603986 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/603990 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604006 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604007 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604338 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604339 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604340 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604341 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604342 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/604343 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/605177 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/608297 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/609830 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/615971 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/616018 rdfs:label removed from database -ERROR duplicate_label https://omim.org/entry/618428 rdfs:label removed from database ERROR duplicate_label NCIT:C25648 rdfs:label Relationship ERROR duplicate_label NCIT:C71472 rdfs:label Relationship ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_728 rdfs:label Relapsing polychondritis @@ -6334,14 +6215,10 @@ ERROR duplicate_label DOID:0110936 rdfs:label nemaline myopathy 5 ERROR duplicate_label https://omim.org/entry/605355 rdfs:label nemaline myopathy 5 ERROR duplicate_label DOID:0110932 rdfs:label nemaline myopathy 4 ERROR duplicate_label https://omim.org/entry/609285 rdfs:label nemaline myopathy 4 -ERROR duplicate_label DOID:0110927 rdfs:label nemaline myopathy 3 -ERROR duplicate_label https://omim.org/entry/161800 rdfs:label nemaline myopathy 3 ERROR duplicate_label DOID:0110928 rdfs:label nemaline myopathy 2 ERROR duplicate_label https://omim.org/entry/256030 rdfs:label nemaline myopathy 2 ERROR duplicate_label DOID:0110931 rdfs:label nemaline myopathy 10 ERROR duplicate_label https://omim.org/entry/616165 rdfs:label nemaline myopathy 10 -ERROR duplicate_label DOID:0110926 rdfs:label nemaline myopathy 1 -ERROR duplicate_label https://omim.org/entry/609284 rdfs:label nemaline myopathy 1 ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_607 rdfs:label Nemaline myopathy ERROR duplicate_label https://www.omim.org/phenotypicSeries/PS161800 rdfs:label Nemaline myopathy ERROR duplicate_label DOID:4968 rdfs:label Nelson syndrome @@ -7370,8 +7247,6 @@ ERROR duplicate_label DOID:0112006 rdfs:label immunodeficiency 69 ERROR duplicate_label https://omim.org/entry/618963 rdfs:label immunodeficiency 69 ERROR duplicate_label DOID:0111998 rdfs:label immunodeficiency 66 ERROR duplicate_label https://omim.org/entry/618847 rdfs:label immunodeficiency 66 -ERROR duplicate_label DOID:0111980 rdfs:label immunodeficiency 64 -ERROR duplicate_label https://omim.org/entry/618534 rdfs:label immunodeficiency 64 ERROR duplicate_label DOID:0111991 rdfs:label immunodeficiency 62 ERROR duplicate_label https://omim.org/entry/618459 rdfs:label immunodeficiency 62 ERROR duplicate_label DOID:0111999 rdfs:label immunodeficiency 61 @@ -7414,8 +7289,6 @@ ERROR duplicate_label DOID:0111969 rdfs:label immunodeficiency 39 ERROR duplicate_label https://omim.org/entry/616345 rdfs:label immunodeficiency 39 ERROR duplicate_label DOID:0111939 rdfs:label immunodeficiency 37 ERROR duplicate_label https://omim.org/entry/616098 rdfs:label immunodeficiency 37 -ERROR duplicate_label DOID:0111949 rdfs:label immunodeficiency 36 -ERROR duplicate_label https://omim.org/entry/616005 rdfs:label immunodeficiency 36 ERROR duplicate_label DOID:0111989 rdfs:label immunodeficiency 35 ERROR duplicate_label https://omim.org/entry/611521 rdfs:label immunodeficiency 35 ERROR duplicate_label DOID:0112000 rdfs:label immunodeficiency 34 @@ -11866,7 +11739,6 @@ ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619404 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619405 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619406 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619408 rdfs:label -ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619409 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619410 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619411 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/619468 rdfs:label @@ -11905,7 +11777,6 @@ ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/64851 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/65014 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/65076 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/65077 rdfs:label -ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/65245 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/652963 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/664728 rdfs:label ERROR missing_label https://www.ncbi.nlm.nih.gov/gene/664780 rdfs:label @@ -13861,6 +13732,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR91 WARN duplicate_exact_synonym https://omim.org/entry/616303 oboInOwl:hasExactSynonym WDR91 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR90 WARN duplicate_exact_synonym https://omim.org/entry/618290 oboInOwl:hasExactSynonym WDR90 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR87 +WARN duplicate_exact_synonym https://omim.org/entry/620274 oboInOwl:hasExactSynonym WDR87 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR83OS WARN duplicate_exact_synonym https://omim.org/entry/618474 oboInOwl:hasExactSynonym WDR83OS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR83 @@ -13935,6 +13808,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR20 WARN duplicate_exact_synonym https://omim.org/entry/617741 oboInOwl:hasExactSynonym WDR20 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR19 WARN duplicate_exact_synonym https://omim.org/entry/608151 oboInOwl:hasExactSynonym WDR19 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR18 +WARN duplicate_exact_synonym https://omim.org/entry/620291 oboInOwl:hasExactSynonym WDR18 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR17 WARN duplicate_exact_synonym https://omim.org/entry/609005 oboInOwl:hasExactSynonym WDR17 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym WDR13 @@ -16624,6 +16499,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMIE WARN duplicate_exact_synonym https://omim.org/entry/607237 oboInOwl:hasExactSynonym TMIE WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMF1 WARN duplicate_exact_synonym https://omim.org/entry/601126 oboInOwl:hasExactSynonym TMF1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM9B +WARN duplicate_exact_synonym https://omim.org/entry/620293 oboInOwl:hasExactSynonym TMEM9B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM98 WARN duplicate_exact_synonym https://omim.org/entry/615949 oboInOwl:hasExactSynonym TMEM98 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM97 @@ -16652,6 +16529,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM79 WARN duplicate_exact_synonym https://omim.org/entry/615531 oboInOwl:hasExactSynonym TMEM79 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM74 WARN duplicate_exact_synonym https://omim.org/entry/613935 oboInOwl:hasExactSynonym TMEM74 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM71 +WARN duplicate_exact_synonym https://omim.org/entry/620287 oboInOwl:hasExactSynonym TMEM71 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM70 WARN duplicate_exact_synonym https://omim.org/entry/612418 oboInOwl:hasExactSynonym TMEM70 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM67 @@ -16686,6 +16565,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM45A WARN duplicate_exact_synonym https://omim.org/entry/616928 oboInOwl:hasExactSynonym TMEM45A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM43 WARN duplicate_exact_synonym https://omim.org/entry/612048 oboInOwl:hasExactSynonym TMEM43 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM41B +WARN duplicate_exact_synonym https://omim.org/entry/620271 oboInOwl:hasExactSynonym TMEM41B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM38B WARN duplicate_exact_synonym https://omim.org/entry/611236 oboInOwl:hasExactSynonym TMEM38B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM38A @@ -16694,6 +16575,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM37 WARN duplicate_exact_synonym https://omim.org/entry/618831 oboInOwl:hasExactSynonym TMEM37 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM33 WARN duplicate_exact_synonym https://omim.org/entry/618515 oboInOwl:hasExactSynonym TMEM33 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM31 +WARN duplicate_exact_synonym https://omim.org/entry/301102 oboInOwl:hasExactSynonym TMEM31 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM30C WARN duplicate_exact_synonym https://omim.org/entry/611030 oboInOwl:hasExactSynonym TMEM30C WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM30B @@ -16730,6 +16613,10 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM240 WARN duplicate_exact_synonym https://omim.org/entry/616101 oboInOwl:hasExactSynonym TMEM240 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM237 WARN duplicate_exact_synonym https://omim.org/entry/614423 oboInOwl:hasExactSynonym TMEM237 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM235 +WARN duplicate_exact_synonym https://omim.org/entry/620272 oboInOwl:hasExactSynonym TMEM235 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM234 +WARN duplicate_exact_synonym https://omim.org/entry/620289 oboInOwl:hasExactSynonym TMEM234 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM233 WARN duplicate_exact_synonym https://omim.org/entry/618296 oboInOwl:hasExactSynonym TMEM233 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM232 @@ -16742,6 +16629,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM229B WARN duplicate_exact_synonym https://omim.org/entry/619022 oboInOwl:hasExactSynonym TMEM229B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM222 WARN duplicate_exact_synonym https://omim.org/entry/619469 oboInOwl:hasExactSynonym TMEM222 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM219 +WARN duplicate_exact_synonym https://omim.org/entry/620290 oboInOwl:hasExactSynonym TMEM219 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM218 WARN duplicate_exact_synonym https://omim.org/entry/619285 oboInOwl:hasExactSynonym TMEM218 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM216 @@ -16786,8 +16675,12 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM163 WARN duplicate_exact_synonym https://omim.org/entry/618978 oboInOwl:hasExactSynonym TMEM163 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM161A WARN duplicate_exact_synonym https://omim.org/entry/618966 oboInOwl:hasExactSynonym TMEM161A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM160 +WARN duplicate_exact_synonym https://omim.org/entry/620258 oboInOwl:hasExactSynonym TMEM160 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM159 WARN duplicate_exact_synonym https://omim.org/entry/611304 oboInOwl:hasExactSynonym TMEM159 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM158 +WARN duplicate_exact_synonym https://omim.org/entry/620257 oboInOwl:hasExactSynonym TMEM158 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM151A WARN duplicate_exact_synonym https://omim.org/entry/620108 oboInOwl:hasExactSynonym TMEM151A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM150C @@ -16814,6 +16707,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM132E WARN duplicate_exact_synonym https://omim.org/entry/616178 oboInOwl:hasExactSynonym TMEM132E WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM132D WARN duplicate_exact_synonym https://omim.org/entry/611257 oboInOwl:hasExactSynonym TMEM132D +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM132B +WARN duplicate_exact_synonym https://omim.org/entry/620260 oboInOwl:hasExactSynonym TMEM132B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM132A WARN duplicate_exact_synonym https://omim.org/entry/617363 oboInOwl:hasExactSynonym TMEM132A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TMEM131L @@ -17587,6 +17482,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TEF WARN duplicate_exact_synonym https://omim.org/entry/188595 oboInOwl:hasExactSynonym TEF WARN duplicate_exact_synonym http://purl.bioontology.org/ontology/ICD10CM/F45.8 oboInOwl:hasExactSynonym Teeth grinding@en WARN duplicate_exact_synonym DOID:2846 oboInOwl:hasExactSynonym Teeth grinding@en +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TEDDM1 +WARN duplicate_exact_synonym https://omim.org/entry/620288 oboInOwl:hasExactSynonym TEDDM1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TECTB WARN duplicate_exact_synonym https://omim.org/entry/602653 oboInOwl:hasExactSynonym TECTB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym TECTA @@ -19547,8 +19444,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPNS1 WARN duplicate_exact_synonym https://omim.org/entry/612583 oboInOwl:hasExactSynonym SPNS1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPN WARN duplicate_exact_synonym https://omim.org/entry/182160 oboInOwl:hasExactSynonym SPN -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPMM -WARN duplicate_exact_synonym https://omim.org/entry/181430 oboInOwl:hasExactSynonym SPMM WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPM WARN duplicate_exact_synonym https://omim.org/entry/300695 oboInOwl:hasExactSynonym SPM WARN duplicate_exact_synonym http://purl.bioontology.org/ontology/ICD10CM/S00.551 oboInOwl:hasExactSynonym Splinter of lip and oral cavity@en @@ -19625,6 +19520,10 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFY2 WARN duplicate_exact_synonym https://omim.org/entry/415000 oboInOwl:hasExactSynonym SPGFY2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFY1 WARN duplicate_exact_synonym https://omim.org/entry/400042 oboInOwl:hasExactSynonym SPGFY1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFX6 +WARN duplicate_exact_synonym https://omim.org/entry/301101 oboInOwl:hasExactSynonym SPGFX6 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFX5 +WARN duplicate_exact_synonym https://omim.org/entry/301099 oboInOwl:hasExactSynonym SPGFX5 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFX4 WARN duplicate_exact_synonym https://omim.org/entry/301077 oboInOwl:hasExactSynonym SPGFX4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFX3 @@ -19636,6 +19535,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGFX1 WARN duplicate_exact_synonym https://omim.org/entry/305700 oboInOwl:hasExactSynonym SPGFX1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGF9 WARN duplicate_exact_synonym https://omim.org/entry/613958 oboInOwl:hasExactSynonym SPGF9 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGF81 +WARN duplicate_exact_synonym https://omim.org/entry/620277 oboInOwl:hasExactSynonym SPGF81 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGF80 WARN duplicate_exact_synonym https://omim.org/entry/620222 oboInOwl:hasExactSynonym SPGF80 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SPGF8 @@ -21426,6 +21327,10 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35B2 WARN duplicate_exact_synonym https://omim.org/entry/610788 oboInOwl:hasExactSynonym SLC35B2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35B1 WARN duplicate_exact_synonym https://omim.org/entry/610790 oboInOwl:hasExactSynonym SLC35B1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35A5 +WARN duplicate_exact_synonym https://omim.org/entry/620298 oboInOwl:hasExactSynonym SLC35A5 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35A4 +WARN duplicate_exact_synonym https://omim.org/entry/620297 oboInOwl:hasExactSynonym SLC35A4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35A3 WARN duplicate_exact_synonym https://omim.org/entry/605632 oboInOwl:hasExactSynonym SLC35A3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SLC35A2 @@ -23607,8 +23512,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SAMD11 WARN duplicate_exact_synonym https://omim.org/entry/616765 oboInOwl:hasExactSynonym SAMD11 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SAMD1 WARN duplicate_exact_synonym https://omim.org/entry/620206 oboInOwl:hasExactSynonym SAMD1 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SALMY -WARN duplicate_exact_synonym https://omim.org/entry/611705 oboInOwl:hasExactSynonym SALMY WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SALL4 WARN duplicate_exact_synonym https://omim.org/entry/607343 oboInOwl:hasExactSynonym SALL4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym SALL3 @@ -23888,8 +23791,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RSPH14 WARN duplicate_exact_synonym https://omim.org/entry/605663 oboInOwl:hasExactSynonym RSPH14 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RSPH1 WARN duplicate_exact_synonym https://omim.org/entry/609314 oboInOwl:hasExactSynonym RSPH1 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RSMD1 -WARN duplicate_exact_synonym https://omim.org/entry/602771 oboInOwl:hasExactSynonym RSMD1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RSL24D1 WARN duplicate_exact_synonym https://omim.org/entry/613262 oboInOwl:hasExactSynonym RSL24D1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RSL1D1 @@ -24711,8 +24612,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RND1 WARN duplicate_exact_synonym https://omim.org/entry/609038 oboInOwl:hasExactSynonym RND1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RNASET2 WARN duplicate_exact_synonym https://omim.org/entry/612944 oboInOwl:hasExactSynonym RNASET2 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RNASEN -WARN duplicate_exact_synonym https://omim.org/entry/608828 oboInOwl:hasExactSynonym RNASEN WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RNASEL WARN duplicate_exact_synonym https://omim.org/entry/180435 oboInOwl:hasExactSynonym RNASEL WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RNASEK @@ -24789,6 +24688,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RMD2 WARN duplicate_exact_synonym https://omim.org/entry/606072 oboInOwl:hasExactSynonym RMD2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RMD1 WARN duplicate_exact_synonym https://omim.org/entry/600332 oboInOwl:hasExactSynonym RMD1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RMC1 +WARN duplicate_exact_synonym https://omim.org/entry/620267 oboInOwl:hasExactSynonym RMC1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RLSDF WARN duplicate_exact_synonym https://omim.org/entry/618821 oboInOwl:hasExactSynonym RLSDF WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RLS8 @@ -24875,6 +24776,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RIMS2 WARN duplicate_exact_synonym https://omim.org/entry/606630 oboInOwl:hasExactSynonym RIMS2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RIMS1 WARN duplicate_exact_synonym https://omim.org/entry/606629 oboInOwl:hasExactSynonym RIMS1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RIMOC1 +WARN duplicate_exact_synonym https://omim.org/entry/620266 oboInOwl:hasExactSynonym RIMOC1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RIMKLB WARN duplicate_exact_synonym https://omim.org/entry/614054 oboInOwl:hasExactSynonym RIMKLB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RIMKLA @@ -25274,121 +25177,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym RENBP WARN duplicate_exact_synonym https://omim.org/entry/312420 oboInOwl:hasExactSynonym RENBP WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym REN WARN duplicate_exact_synonym https://omim.org/entry/179820 oboInOwl:hasExactSynonym REN -WARN duplicate_exact_synonym https://omim.org/entry/102570 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/102920 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/102930 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/102940 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/102970 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/107253 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/108400 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/117200 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/121000 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/124580 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/125510 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/126440 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/132860 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/133710 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/133730 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/133740 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/136670 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/138391 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/139220 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/139230 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/142420 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/142870 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/143070 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/143080 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/147410 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/147490 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/147684 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/151550 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/155960 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/163900 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/164710 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/164830 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/170950 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/171700 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/177860 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/179715 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/180330 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/180930 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/180940 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/183250 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/185450 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/185595 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/186690 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/186920 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/192070 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/193675 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/194520 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/194530 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/200930 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/204400 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/211420 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/212600 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/212700 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/221000 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/225360 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/231400 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/231610 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/239400 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/240100 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/242800 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/245500 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/249800 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/252030 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/253500 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/261660 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/264810 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/275600 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/300900 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/301880 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/304990 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/305650 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/306600 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/308210 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/308400 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/311700 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/312030 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/312530 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/313450 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/313460 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/313550 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/314350 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/314920 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/314940 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/314960 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/400000 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/424000 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/510000 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/600261 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/600499 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/600606 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/601050 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/601106 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/601169 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/601294 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/602029 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/602147 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/602456 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/603653 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/603793 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/603986 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/603990 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604006 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604007 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604338 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604339 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604340 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604341 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604342 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/604343 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/605177 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/608297 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/609830 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/615971 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/616018 oboInOwl:hasExactSynonym removed from database -WARN duplicate_exact_synonym https://omim.org/entry/618428 oboInOwl:hasExactSynonym removed from database WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym REM2 WARN duplicate_exact_synonym https://omim.org/entry/616955 oboInOwl:hasExactSynonym REM2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym REM1 @@ -28733,8 +28521,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PILBOS WARN duplicate_exact_synonym https://omim.org/entry/617682 oboInOwl:hasExactSynonym PILBOS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PIKFYVE WARN duplicate_exact_synonym https://omim.org/entry/609414 oboInOwl:hasExactSynonym PIKFYVE -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PIK4CB -WARN duplicate_exact_synonym https://omim.org/entry/602758 oboInOwl:hasExactSynonym PIK4CB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PIK3R6 WARN duplicate_exact_synonym https://omim.org/entry/611462 oboInOwl:hasExactSynonym PIK3R6 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PIK3R5 @@ -28861,6 +28647,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PI9 WARN duplicate_exact_synonym https://omim.org/entry/601799 oboInOwl:hasExactSynonym PI9 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PI5 WARN duplicate_exact_synonym https://omim.org/entry/154790 oboInOwl:hasExactSynonym PI5 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PI4KB +WARN duplicate_exact_synonym https://omim.org/entry/602758 oboInOwl:hasExactSynonym PI4KB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PI4KA WARN duplicate_exact_synonym https://omim.org/entry/600286 oboInOwl:hasExactSynonym PI4KA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PI4K2B @@ -29136,6 +28924,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PGBD5 WARN duplicate_exact_synonym https://omim.org/entry/616791 oboInOwl:hasExactSynonym PGBD5 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PGAP6 WARN duplicate_exact_synonym https://omim.org/entry/619342 oboInOwl:hasExactSynonym PGAP6 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PGAP4 +WARN duplicate_exact_synonym https://omim.org/entry/620264 oboInOwl:hasExactSynonym PGAP4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PGAP3 WARN duplicate_exact_synonym https://omim.org/entry/611801 oboInOwl:hasExactSynonym PGAP3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym PGAP2 @@ -30695,6 +30485,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OXSM WARN duplicate_exact_synonym https://omim.org/entry/610324 oboInOwl:hasExactSynonym OXSM WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OXR1 WARN duplicate_exact_synonym https://omim.org/entry/605609 oboInOwl:hasExactSynonym OXR1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OXGR1 +WARN duplicate_exact_synonym https://omim.org/entry/606922 oboInOwl:hasExactSynonym OXGR1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OXER1 WARN duplicate_exact_synonym https://omim.org/entry/620064 oboInOwl:hasExactSynonym OXER1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OXCT2 @@ -31134,6 +30926,8 @@ WARN duplicate_exact_synonym https://omim.org/entry/616732 oboInOwl:hasExactSyno WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OPA1 WARN duplicate_exact_synonym https://omim.org/entry/165500 oboInOwl:hasExactSynonym OPA1 WARN duplicate_exact_synonym https://omim.org/entry/605290 oboInOwl:hasExactSynonym OPA1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOSP2 +WARN duplicate_exact_synonym https://omim.org/entry/620263 oboInOwl:hasExactSynonym OOSP2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OORS WARN duplicate_exact_synonym https://omim.org/entry/619356 oboInOwl:hasExactSynonym OORS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD9 @@ -31152,6 +30946,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD3 WARN duplicate_exact_synonym https://omim.org/entry/617712 oboInOwl:hasExactSynonym OOMD3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD2 WARN duplicate_exact_synonym https://omim.org/entry/616780 oboInOwl:hasExactSynonym OOMD2 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD14 +WARN duplicate_exact_synonym https://omim.org/entry/620276 oboInOwl:hasExactSynonym OOMD14 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD13 WARN duplicate_exact_synonym https://omim.org/entry/620154 oboInOwl:hasExactSynonym OOMD13 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym OOMD12 @@ -32572,8 +32368,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLK WARN duplicate_exact_synonym https://omim.org/entry/609476 oboInOwl:hasExactSynonym NLK WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLGN4Y WARN duplicate_exact_synonym https://omim.org/entry/400028 oboInOwl:hasExactSynonym NLGN4Y -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLGN4 -WARN duplicate_exact_synonym https://omim.org/entry/300427 oboInOwl:hasExactSynonym NLGN4 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLGN4X +WARN duplicate_exact_synonym https://omim.org/entry/300427 oboInOwl:hasExactSynonym NLGN4X WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLGN3 WARN duplicate_exact_synonym https://omim.org/entry/300336 oboInOwl:hasExactSynonym NLGN3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NLGN2 @@ -32963,16 +32759,12 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM5 WARN duplicate_exact_synonym https://omim.org/entry/605355 oboInOwl:hasExactSynonym NEM5 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM4 WARN duplicate_exact_synonym https://omim.org/entry/609285 oboInOwl:hasExactSynonym NEM4 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM3 -WARN duplicate_exact_synonym https://omim.org/entry/161800 oboInOwl:hasExactSynonym NEM3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM2 WARN duplicate_exact_synonym https://omim.org/entry/256030 oboInOwl:hasExactSynonym NEM2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM11 WARN duplicate_exact_synonym https://omim.org/entry/617336 oboInOwl:hasExactSynonym NEM11 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM10 WARN duplicate_exact_synonym https://omim.org/entry/616165 oboInOwl:hasExactSynonym NEM10 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEM1 -WARN duplicate_exact_synonym https://omim.org/entry/609284 oboInOwl:hasExactSynonym NEM1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NELL2 WARN duplicate_exact_synonym https://omim.org/entry/602320 oboInOwl:hasExactSynonym NELL2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NELL1 @@ -33033,6 +32825,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSTO WARN duplicate_exact_synonym https://omim.org/entry/619653 oboInOwl:hasExactSynonym NEDSTO WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSSWI WARN duplicate_exact_synonym https://omim.org/entry/618480 oboInOwl:hasExactSynonym NEDSSWI +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSSCC +WARN duplicate_exact_synonym https://omim.org/entry/620250 oboInOwl:hasExactSynonym NEDSSCC WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSSBA WARN duplicate_exact_synonym https://omim.org/entry/620001 oboInOwl:hasExactSynonym NEDSSBA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSPM @@ -33043,6 +32837,7 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSOA WARN duplicate_exact_synonym https://omim.org/entry/619989 oboInOwl:hasExactSynonym NEDSOA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSMBA WARN duplicate_exact_synonym https://omim.org/entry/620024 oboInOwl:hasExactSynonym NEDSMBA +WARN duplicate_exact_synonym https://omim.org/entry/620270 oboInOwl:hasExactSynonym NEDSMBA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSIS WARN duplicate_exact_synonym https://omim.org/entry/620114 oboInOwl:hasExactSynonym NEDSIS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDSID @@ -33126,6 +32921,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDLIB WARN duplicate_exact_synonym https://omim.org/entry/618917 oboInOwl:hasExactSynonym NEDLIB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDLDS WARN duplicate_exact_synonym https://omim.org/entry/619908 oboInOwl:hasExactSynonym NEDLDS +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDLBAS +WARN duplicate_exact_synonym https://omim.org/entry/620292 oboInOwl:hasExactSynonym NEDLBAS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDLBA WARN duplicate_exact_synonym https://omim.org/entry/618354 oboInOwl:hasExactSynonym NEDLBA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NEDLAS @@ -33508,6 +33305,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NCSTN WARN duplicate_exact_synonym https://omim.org/entry/605254 oboInOwl:hasExactSynonym NCSTN WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NCS1 WARN duplicate_exact_synonym https://omim.org/entry/603315 oboInOwl:hasExactSynonym NCS1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NCR3LG1 +WARN duplicate_exact_synonym https://omim.org/entry/613714 oboInOwl:hasExactSynonym NCR3LG1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NCR3 WARN duplicate_exact_synonym https://omim.org/entry/611550 oboInOwl:hasExactSynonym NCR3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym NCR2 @@ -33912,14 +33711,9 @@ WARN duplicate_exact_synonym https://omim.org/entry/611790 oboInOwl:hasExactSyno WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYRF WARN duplicate_exact_synonym https://omim.org/entry/608329 oboInOwl:hasExactSynonym MYRF WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYPOP -WARN duplicate_exact_synonym https://omim.org/entry/605637 oboInOwl:hasExactSynonym MYPOP WARN duplicate_exact_synonym https://omim.org/entry/617861 oboInOwl:hasExactSynonym MYPOP WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYPN WARN duplicate_exact_synonym https://omim.org/entry/608517 oboInOwl:hasExactSynonym MYPN -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYPCN -WARN duplicate_exact_synonym https://omim.org/entry/612540 oboInOwl:hasExactSynonym MYPCN -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYPBB -WARN duplicate_exact_synonym https://omim.org/entry/255995 oboInOwl:hasExactSynonym MYPBB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYP9 WARN duplicate_exact_synonym https://omim.org/entry/609258 oboInOwl:hasExactSynonym MYP9 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYP8 @@ -33980,26 +33774,16 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOZ2 WARN duplicate_exact_synonym https://omim.org/entry/605602 oboInOwl:hasExactSynonym MYOZ2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOZ1 WARN duplicate_exact_synonym https://omim.org/entry/605603 oboInOwl:hasExactSynonym MYOZ1 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOTREM -WARN duplicate_exact_synonym https://omim.org/entry/618524 oboInOwl:hasExactSynonym MYOTREM WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOT WARN duplicate_exact_synonym https://omim.org/entry/604103 oboInOwl:hasExactSynonym MYOT WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOSLID WARN duplicate_exact_synonym https://omim.org/entry/618976 oboInOwl:hasExactSynonym MYOSLID -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOSCO -WARN duplicate_exact_synonym https://omim.org/entry/618578 oboInOwl:hasExactSynonym MYOSCO +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOSB +WARN duplicate_exact_synonym https://omim.org/entry/620286 oboInOwl:hasExactSynonym MYOSB WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOS WARN duplicate_exact_synonym https://omim.org/entry/620166 oboInOwl:hasExactSynonym MYOS -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYORIBF -WARN duplicate_exact_synonym https://omim.org/entry/618822 oboInOwl:hasExactSynonym MYORIBF WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYORG WARN duplicate_exact_synonym https://omim.org/entry/618255 oboInOwl:hasExactSynonym MYORG -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOPMIL -WARN duplicate_exact_synonym https://omim.org/entry/618823 oboInOwl:hasExactSynonym MYOPMIL -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYONRI -WARN duplicate_exact_synonym https://omim.org/entry/620161 oboInOwl:hasExactSynonym MYONRI -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYONP -WARN duplicate_exact_synonym https://omim.org/entry/619967 oboInOwl:hasExactSynonym MYONP WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOM3 WARN duplicate_exact_synonym https://omim.org/entry/616832 oboInOwl:hasExactSynonym MYOM3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOM2 @@ -34008,18 +33792,12 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOM1 WARN duplicate_exact_synonym https://omim.org/entry/603508 oboInOwl:hasExactSynonym MYOM1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOG WARN duplicate_exact_synonym https://omim.org/entry/159980 oboInOwl:hasExactSynonym MYOG -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOFTA -WARN duplicate_exact_synonym https://omim.org/entry/618414 oboInOwl:hasExactSynonym MYOFTA WARN duplicate_exact_synonym DOID:0111188 oboInOwl:hasExactSynonym Myofibrillar myopathy-titinopathy@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_178464 oboInOwl:hasExactSynonym Myofibrillar myopathy-titinopathy@en WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOF WARN duplicate_exact_synonym https://omim.org/entry/604603 oboInOwl:hasExactSynonym MYOF -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYODRIF -WARN duplicate_exact_synonym https://omim.org/entry/618975 oboInOwl:hasExactSynonym MYODRIF WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOD1 WARN duplicate_exact_synonym https://omim.org/entry/159970 oboInOwl:hasExactSynonym MYOD1 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MYOCOZ -WARN duplicate_exact_synonym https://omim.org/entry/618654 oboInOwl:hasExactSynonym MYOCOZ WARN duplicate_exact_synonym DOID:0111444 oboInOwl:hasExactSynonym Myoclonus-nephropathy syndrome@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_163696 oboInOwl:hasExactSynonym Myoclonus-nephropathy syndrome@en WARN duplicate_exact_synonym DOID:0111447 oboInOwl:hasExactSynonym Myoclonus epilepsy and ataxia due to potassium channel mutation@en @@ -34721,9 +34499,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MSMDS WARN duplicate_exact_synonym https://omim.org/entry/613834 oboInOwl:hasExactSynonym MSMDS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MSMB WARN duplicate_exact_synonym https://omim.org/entry/157145 oboInOwl:hasExactSynonym MSMB -WARN duplicate_exact_synonym https://omim.org/entry/255160 oboInOwl:hasExactSynonym MSMB -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MSMA -WARN duplicate_exact_synonym https://omim.org/entry/608358 oboInOwl:hasExactSynonym MSMA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MSLN WARN duplicate_exact_synonym https://omim.org/entry/601051 oboInOwl:hasExactSynonym MSLN WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MSLHP @@ -35790,6 +35565,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MMIHS2 WARN duplicate_exact_synonym https://omim.org/entry/619351 oboInOwl:hasExactSynonym MMIHS2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MMIHS1 WARN duplicate_exact_synonym https://omim.org/entry/249210 oboInOwl:hasExactSynonym MMIHS1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MMGT1 +WARN duplicate_exact_synonym https://omim.org/entry/301098 oboInOwl:hasExactSynonym MMGT1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MMERV WARN duplicate_exact_synonym https://omim.org/entry/618113 oboInOwl:hasExactSynonym MMERV WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MMEL1 @@ -36766,6 +36543,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MFSD2B WARN duplicate_exact_synonym https://omim.org/entry/617845 oboInOwl:hasExactSynonym MFSD2B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MFSD2A WARN duplicate_exact_synonym https://omim.org/entry/614397 oboInOwl:hasExactSynonym MFSD2A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MFSD13A +WARN duplicate_exact_synonym https://omim.org/entry/620255 oboInOwl:hasExactSynonym MFSD13A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MFSD12 WARN duplicate_exact_synonym https://omim.org/entry/617745 oboInOwl:hasExactSynonym MFSD12 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MFSD1 @@ -37634,6 +37413,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MC4DN4 WARN duplicate_exact_synonym https://omim.org/entry/619048 oboInOwl:hasExactSynonym MC4DN4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MC4DN3 WARN duplicate_exact_synonym https://omim.org/entry/619046 oboInOwl:hasExactSynonym MC4DN3 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MC4DN23 +WARN duplicate_exact_synonym https://omim.org/entry/620275 oboInOwl:hasExactSynonym MC4DN23 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MC4DN22 WARN duplicate_exact_synonym https://omim.org/entry/619355 oboInOwl:hasExactSynonym MC4DN22 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym MC4DN21 @@ -41920,8 +41701,6 @@ WARN duplicate_exact_synonym http://purl.bioontology.org/ontology/ICD10CM/D80.5 WARN duplicate_exact_synonym https://icd.who.int/browse10/2019/en#/D80.5 oboInOwl:hasExactSynonym immunodeficiency with increased immunoglobulin m WARN duplicate_exact_synonym DOID:0112002 oboInOwl:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features WARN duplicate_exact_synonym https://omim.org/entry/300972 oboInOwl:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features -WARN duplicate_exact_synonym DOID:0112015 oboInOwl:hasExactSynonym immunodeficiency 72 with autoinflammation -WARN duplicate_exact_synonym https://omim.org/entry/618982 oboInOwl:hasExactSynonym immunodeficiency 72 with autoinflammation WARN duplicate_exact_synonym DOID:0112004 oboInOwl:hasExactSynonym immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia WARN duplicate_exact_synonym https://omim.org/entry/617718 oboInOwl:hasExactSynonym immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia WARN duplicate_exact_synonym DOID:0111978 oboInOwl:hasExactSynonym immunodeficiency 65, susceptibility to viral infections @@ -42237,6 +42016,8 @@ WARN duplicate_exact_synonym https://omim.org/entry/617638 oboInOwl:hasExactSyno WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym IMD11A WARN duplicate_exact_synonym DOID:0111957 oboInOwl:hasExactSynonym IMD11A WARN duplicate_exact_synonym https://omim.org/entry/615206 oboInOwl:hasExactSynonym IMD11A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym IMD109 +WARN duplicate_exact_synonym https://omim.org/entry/620282 oboInOwl:hasExactSynonym IMD109 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym IMD108 WARN duplicate_exact_synonym https://omim.org/entry/260570 oboInOwl:hasExactSynonym IMD108 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym IMD107 @@ -43307,6 +43088,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HUNK WARN duplicate_exact_synonym https://omim.org/entry/606532 oboInOwl:hasExactSynonym HUNK WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HUMOP2 WARN duplicate_exact_synonym https://omim.org/entry/620085 oboInOwl:hasExactSynonym HUMOP2 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HUMOP1 +WARN duplicate_exact_synonym https://omim.org/entry/238800 oboInOwl:hasExactSynonym HUMOP1 WARN duplicate_exact_synonym https://omim.org/entry/143050 oboInOwl:hasExactSynonym humeroradial synostosis WARN duplicate_exact_synonym https://omim.org/entry/236400 oboInOwl:hasExactSynonym humeroradial synostosis WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HULC @@ -44247,6 +44030,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HLD4 WARN duplicate_exact_synonym https://omim.org/entry/612233 oboInOwl:hasExactSynonym HLD4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HLD3 WARN duplicate_exact_synonym https://omim.org/entry/260600 oboInOwl:hasExactSynonym HLD3 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HLD26 +WARN duplicate_exact_synonym https://omim.org/entry/620269 oboInOwl:hasExactSynonym HLD26 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HLD25 WARN duplicate_exact_synonym https://omim.org/entry/620243 oboInOwl:hasExactSynonym HLD25 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym HLD24 @@ -45912,8 +45697,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym GPR83 WARN duplicate_exact_synonym https://omim.org/entry/605569 oboInOwl:hasExactSynonym GPR83 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym GPR82 WARN duplicate_exact_synonym https://omim.org/entry/300748 oboInOwl:hasExactSynonym GPR82 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym GPR80 -WARN duplicate_exact_synonym https://omim.org/entry/606922 oboInOwl:hasExactSynonym GPR80 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym GPR8 WARN duplicate_exact_synonym https://omim.org/entry/600731 oboInOwl:hasExactSynonym GPR8 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym GPR78 @@ -48252,6 +48035,8 @@ WARN duplicate_exact_synonym DOID:0060699 oboInOwl:hasExactSynonym FHH@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_405 oboInOwl:hasExactSynonym FHH@en WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym FHEIG WARN duplicate_exact_synonym https://omim.org/entry/618381 oboInOwl:hasExactSynonym FHEIG +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym FHDC1 +WARN duplicate_exact_synonym https://omim.org/entry/620268 oboInOwl:hasExactSynonym FHDC1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym FHCL4 WARN duplicate_exact_synonym https://omim.org/entry/603813 oboInOwl:hasExactSynonym FHCL4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym FHCL3 @@ -50056,8 +49841,12 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMCN WARN duplicate_exact_synonym https://omim.org/entry/608350 oboInOwl:hasExactSynonym EMCN WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC8 WARN duplicate_exact_synonym https://omim.org/entry/604886 oboInOwl:hasExactSynonym EMC8 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC6 +WARN duplicate_exact_synonym https://omim.org/entry/620261 oboInOwl:hasExactSynonym EMC6 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC4 WARN duplicate_exact_synonym https://omim.org/entry/616245 oboInOwl:hasExactSynonym EMC4 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC3 +WARN duplicate_exact_synonym https://omim.org/entry/620273 oboInOwl:hasExactSynonym EMC3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC2 WARN duplicate_exact_synonym https://omim.org/entry/607722 oboInOwl:hasExactSynonym EMC2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC10 @@ -50066,10 +49855,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMC1 WARN duplicate_exact_synonym https://omim.org/entry/616846 oboInOwl:hasExactSynonym EMC1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMB WARN duplicate_exact_synonym https://omim.org/entry/615669 oboInOwl:hasExactSynonym EMB -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym EMARDD WARN duplicate_exact_synonym DOID:0111333 oboInOwl:hasExactSynonym EMARDD@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_439212 oboInOwl:hasExactSynonym EMARDD@en -WARN duplicate_exact_synonym https://omim.org/entry/614399 oboInOwl:hasExactSynonym EMARDD WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ELSPBP1 WARN duplicate_exact_synonym https://omim.org/entry/607443 oboInOwl:hasExactSynonym ELSPBP1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ELP6 @@ -51257,6 +51044,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DRP2 WARN duplicate_exact_synonym https://omim.org/entry/300052 oboInOwl:hasExactSynonym DRP2 WARN duplicate_exact_synonym https://omim.org/entry/128240 oboInOwl:hasExactSynonym drp WARN duplicate_exact_synonym https://omim.org/entry/604550 oboInOwl:hasExactSynonym drp +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DROSHA +WARN duplicate_exact_synonym https://omim.org/entry/608828 oboInOwl:hasExactSynonym DROSHA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DRGX WARN duplicate_exact_synonym https://omim.org/entry/606701 oboInOwl:hasExactSynonym DRGX WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DRG2 @@ -52306,6 +52095,14 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNB100 WARN duplicate_exact_synonym https://omim.org/entry/618422 oboInOwl:hasExactSynonym DFNB100 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA9 WARN duplicate_exact_synonym https://omim.org/entry/601369 oboInOwl:hasExactSynonym DFNA9 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA89 +WARN duplicate_exact_synonym https://omim.org/entry/620284 oboInOwl:hasExactSynonym DFNA89 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA88 +WARN duplicate_exact_synonym https://omim.org/entry/620283 oboInOwl:hasExactSynonym DFNA88 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA87 +WARN duplicate_exact_synonym https://omim.org/entry/620281 oboInOwl:hasExactSynonym DFNA87 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA86 +WARN duplicate_exact_synonym https://omim.org/entry/620280 oboInOwl:hasExactSynonym DFNA86 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA85 WARN duplicate_exact_synonym https://omim.org/entry/620227 oboInOwl:hasExactSynonym DFNA85 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DFNA84 @@ -53194,6 +52991,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DCAF12 WARN duplicate_exact_synonym https://omim.org/entry/620087 oboInOwl:hasExactSynonym DCAF12 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DCAF11 WARN duplicate_exact_synonym https://omim.org/entry/613317 oboInOwl:hasExactSynonym DCAF11 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DCAF10 +WARN duplicate_exact_synonym https://omim.org/entry/620295 oboInOwl:hasExactSynonym DCAF10 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DCAF1 WARN duplicate_exact_synonym https://omim.org/entry/617259 oboInOwl:hasExactSynonym DCAF1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DBX1 @@ -53308,6 +53107,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DAZ1 WARN duplicate_exact_synonym https://omim.org/entry/400003 oboInOwl:hasExactSynonym DAZ1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DAXX WARN duplicate_exact_synonym https://omim.org/entry/603186 oboInOwl:hasExactSynonym DAXX +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DAW1 +WARN duplicate_exact_synonym https://omim.org/entry/620279 oboInOwl:hasExactSynonym DAW1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DASS WARN duplicate_exact_synonym https://omim.org/entry/601216 oboInOwl:hasExactSynonym DASS WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym DARS2 @@ -55600,6 +55401,58 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CNA2 WARN duplicate_exact_synonym https://omim.org/entry/217300 oboInOwl:hasExactSynonym CNA2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CNA1 WARN duplicate_exact_synonym https://omim.org/entry/121400 oboInOwl:hasExactSynonym CNA1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP9B +WARN duplicate_exact_synonym https://omim.org/entry/618823 oboInOwl:hasExactSynonym CMYP9B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP9A +WARN duplicate_exact_synonym https://omim.org/entry/618822 oboInOwl:hasExactSynonym CMYP9A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP8 +WARN duplicate_exact_synonym https://omim.org/entry/618654 oboInOwl:hasExactSynonym CMYP8 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP7B +WARN duplicate_exact_synonym https://omim.org/entry/255160 oboInOwl:hasExactSynonym CMYP7B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP7A +WARN duplicate_exact_synonym https://omim.org/entry/608358 oboInOwl:hasExactSynonym CMYP7A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP6 +WARN duplicate_exact_synonym https://omim.org/entry/605637 oboInOwl:hasExactSynonym CMYP6 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP5 +WARN duplicate_exact_synonym https://omim.org/entry/611705 oboInOwl:hasExactSynonym CMYP5 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP4B +WARN duplicate_exact_synonym https://omim.org/entry/609284 oboInOwl:hasExactSynonym CMYP4B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP4A +WARN duplicate_exact_synonym https://omim.org/entry/255310 oboInOwl:hasExactSynonym CMYP4A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP3 +WARN duplicate_exact_synonym https://omim.org/entry/602771 oboInOwl:hasExactSynonym CMYP3 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP2C +WARN duplicate_exact_synonym https://omim.org/entry/620278 oboInOwl:hasExactSynonym CMYP2C +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP2B +WARN duplicate_exact_synonym https://omim.org/entry/620265 oboInOwl:hasExactSynonym CMYP2B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP2A +WARN duplicate_exact_synonym https://omim.org/entry/161800 oboInOwl:hasExactSynonym CMYP2A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP1B +WARN duplicate_exact_synonym https://omim.org/entry/255320 oboInOwl:hasExactSynonym CMYP1B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP1A +WARN duplicate_exact_synonym https://omim.org/entry/117000 oboInOwl:hasExactSynonym CMYP1A +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP19 +WARN duplicate_exact_synonym https://omim.org/entry/618578 oboInOwl:hasExactSynonym CMYP19 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP18 +WARN duplicate_exact_synonym https://omim.org/entry/620246 oboInOwl:hasExactSynonym CMYP18 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP17 +WARN duplicate_exact_synonym https://omim.org/entry/618975 oboInOwl:hasExactSynonym CMYP17 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP16 +WARN duplicate_exact_synonym https://omim.org/entry/618524 oboInOwl:hasExactSynonym CMYP16 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP15 +WARN duplicate_exact_synonym https://omim.org/entry/620161 oboInOwl:hasExactSynonym CMYP15 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP14 +WARN duplicate_exact_synonym https://omim.org/entry/618414 oboInOwl:hasExactSynonym CMYP14 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP13 +WARN duplicate_exact_synonym https://omim.org/entry/255995 oboInOwl:hasExactSynonym CMYP13 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP12 +WARN duplicate_exact_synonym https://omim.org/entry/612540 oboInOwl:hasExactSynonym CMYP12 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP11 +WARN duplicate_exact_synonym https://omim.org/entry/619967 oboInOwl:hasExactSynonym CMYP11 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP10B +WARN duplicate_exact_synonym https://omim.org/entry/620249 oboInOwl:hasExactSynonym CMYP10B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYP10A +WARN duplicate_exact_synonym https://omim.org/entry/614399 oboInOwl:hasExactSynonym CMYP10A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMYA5 WARN duplicate_exact_synonym https://omim.org/entry/612193 oboInOwl:hasExactSynonym CMYA5 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CMTX6 @@ -56198,6 +56051,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CLSD WARN duplicate_exact_synonym https://omim.org/entry/607812 oboInOwl:hasExactSynonym CLSD WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CLS WARN duplicate_exact_synonym https://omim.org/entry/303600 oboInOwl:hasExactSynonym CLS +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CLRN3 +WARN duplicate_exact_synonym https://omim.org/entry/620256 oboInOwl:hasExactSynonym CLRN3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CLRN2 WARN duplicate_exact_synonym https://omim.org/entry/618988 oboInOwl:hasExactSynonym CLRN2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CLRN1 @@ -56713,6 +56568,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CHTF18 WARN duplicate_exact_synonym https://omim.org/entry/613201 oboInOwl:hasExactSynonym CHTF18 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CHTE WARN duplicate_exact_synonym https://omim.org/entry/300888 oboInOwl:hasExactSynonym CHTE +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CHTD9 +WARN duplicate_exact_synonym https://omim.org/entry/620294 oboInOwl:hasExactSynonym CHTD9 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CHTD8 WARN duplicate_exact_synonym https://omim.org/entry/619657 oboInOwl:hasExactSynonym CHTD8 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CHTD7 @@ -57152,8 +57009,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CFTR WARN duplicate_exact_synonym https://omim.org/entry/602421 oboInOwl:hasExactSynonym CFTR WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CFTDX WARN duplicate_exact_synonym https://omim.org/entry/300580 oboInOwl:hasExactSynonym CFTDX -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CFTD -WARN duplicate_exact_synonym https://omim.org/entry/255310 oboInOwl:hasExactSynonym CFTD WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CFSMR2 WARN duplicate_exact_synonym https://omim.org/entry/616994 oboInOwl:hasExactSynonym CFSMR2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CFSMR1 @@ -58617,8 +58472,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CCDC103 WARN duplicate_exact_synonym https://omim.org/entry/614677 oboInOwl:hasExactSynonym CCDC103 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CCDC101 WARN duplicate_exact_synonym https://omim.org/entry/613374 oboInOwl:hasExactSynonym CCDC101 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CCD -WARN duplicate_exact_synonym https://omim.org/entry/117000 oboInOwl:hasExactSynonym CCD WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CCCA WARN duplicate_exact_synonym https://omim.org/entry/618352 oboInOwl:hasExactSynonym CCCA WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym CCBL2 @@ -61003,8 +60856,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym AVSD5 WARN duplicate_exact_synonym https://omim.org/entry/614474 oboInOwl:hasExactSynonym AVSD5 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym AVSD4 WARN duplicate_exact_synonym https://omim.org/entry/614430 oboInOwl:hasExactSynonym AVSD4 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym AVSD3 -WARN duplicate_exact_synonym https://omim.org/entry/600309 oboInOwl:hasExactSynonym AVSD3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym AVSD2 WARN duplicate_exact_synonym https://omim.org/entry/606217 oboInOwl:hasExactSynonym AVSD2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym AVSD @@ -61581,10 +61432,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPM WARN duplicate_exact_synonym https://omim.org/entry/605481 oboInOwl:hasExactSynonym ASPM WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPH WARN duplicate_exact_synonym https://omim.org/entry/600582 oboInOwl:hasExactSynonym ASPH -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPGX2 -WARN duplicate_exact_synonym https://omim.org/entry/300497 oboInOwl:hasExactSynonym ASPGX2 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPGX1 -WARN duplicate_exact_synonym https://omim.org/entry/300494 oboInOwl:hasExactSynonym ASPGX1 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPG4 WARN duplicate_exact_synonym https://omim.org/entry/609954 oboInOwl:hasExactSynonym ASPG4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ASPG3 @@ -61754,8 +61601,6 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARVD4 WARN duplicate_exact_synonym https://omim.org/entry/602087 oboInOwl:hasExactSynonym ARVD4 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARVD3 WARN duplicate_exact_synonym https://omim.org/entry/602086 oboInOwl:hasExactSynonym ARVD3 -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARVD2 -WARN duplicate_exact_synonym https://omim.org/entry/600996 oboInOwl:hasExactSynonym ARVD2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARVD14 WARN duplicate_exact_synonym https://omim.org/entry/618920 oboInOwl:hasExactSynonym ARVD14 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARVD13 @@ -62239,8 +62084,8 @@ WARN duplicate_exact_synonym DOID:0050668 oboInOwl:hasExactSynonym ARBD@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_1915 oboInOwl:hasExactSynonym ARBD@en WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARB WARN duplicate_exact_synonym https://omim.org/entry/611809 oboInOwl:hasExactSynonym ARB -WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARAF1 -WARN duplicate_exact_synonym https://omim.org/entry/311010 oboInOwl:hasExactSynonym ARAF1 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ARAF +WARN duplicate_exact_synonym https://omim.org/entry/311010 oboInOwl:hasExactSynonym ARAF WARN duplicate_exact_synonym DOID:0111216 oboInOwl:hasExactSynonym AR-CNM@en WARN duplicate_exact_synonym http://www.orpha.net/ORDO/Orphanet_169186 oboInOwl:hasExactSynonym AR-CNM@en WARN duplicate_exact_synonym DOID:0110160 oboInOwl:hasExactSynonym AR-CMT2T@en @@ -62695,6 +62540,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD42 WARN duplicate_exact_synonym https://omim.org/entry/619778 oboInOwl:hasExactSynonym ANKRD42 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD37 WARN duplicate_exact_synonym https://omim.org/entry/619021 oboInOwl:hasExactSynonym ANKRD37 +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD36 +WARN duplicate_exact_synonym https://omim.org/entry/620262 oboInOwl:hasExactSynonym ANKRD36 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD34B WARN duplicate_exact_synonym https://omim.org/entry/618581 oboInOwl:hasExactSynonym ANKRD34B WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD31 @@ -62717,6 +62564,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD2 WARN duplicate_exact_synonym https://omim.org/entry/610734 oboInOwl:hasExactSynonym ANKRD2 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD18B WARN duplicate_exact_synonym https://omim.org/entry/618930 oboInOwl:hasExactSynonym ANKRD18B +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD18A +WARN duplicate_exact_synonym https://omim.org/entry/620259 oboInOwl:hasExactSynonym ANKRD18A WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD17 WARN duplicate_exact_synonym https://omim.org/entry/615929 oboInOwl:hasExactSynonym ANKRD17 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ANKRD16 @@ -63034,6 +62883,8 @@ WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ALS3 WARN duplicate_exact_synonym https://omim.org/entry/606640 oboInOwl:hasExactSynonym ALS3 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ALS2CL WARN duplicate_exact_synonym https://omim.org/entry/612402 oboInOwl:hasExactSynonym ALS2CL +WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ALS27 +WARN duplicate_exact_synonym https://omim.org/entry/620285 oboInOwl:hasExactSynonym ALS27 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ALS26 WARN duplicate_exact_synonym https://omim.org/entry/619133 oboInOwl:hasExactSynonym ALS26 WARN duplicate_exact_synonym CL:0017543 oboInOwl:hasExactSynonym ALS25 @@ -65922,7 +65773,6 @@ WARN duplicate_label_synonym DOID:0111942 oboInOwl:hasExactSynonym immunodeficie WARN duplicate_label_synonym DOID:0111943 oboInOwl:hasExactSynonym immunodeficiency 48 WARN duplicate_label_synonym DOID:0111947 oboInOwl:hasExactSynonym immunodeficiency 21 WARN duplicate_label_synonym DOID:0111948 oboInOwl:hasExactSynonym immunodeficiency 46 -WARN duplicate_label_synonym DOID:0111949 oboInOwl:hasExactSynonym immunodeficiency 36 WARN duplicate_label_synonym DOID:0111950 oboInOwl:hasExactSynonym immunodeficiency 29 WARN duplicate_label_synonym DOID:0111951 oboInOwl:hasExactSynonym immunodeficiency 40 WARN duplicate_label_synonym DOID:0111953 oboInOwl:hasExactSynonym immunodeficiency 23 @@ -65936,7 +65786,6 @@ WARN duplicate_label_synonym DOID:0111975 oboInOwl:hasExactSynonym immunodeficie WARN duplicate_label_synonym DOID:0111976 oboInOwl:hasExactSynonym immunodeficiency 9 WARN duplicate_label_synonym DOID:0111977 oboInOwl:hasExactSynonym immunodeficiency 7 WARN duplicate_label_synonym DOID:0111979 oboInOwl:hasExactSynonym immunodeficiency 49 -WARN duplicate_label_synonym DOID:0111980 oboInOwl:hasExactSynonym immunodeficiency 64 WARN duplicate_label_synonym DOID:0111981 oboInOwl:hasExactSynonym immunodeficiency 43 WARN duplicate_label_synonym DOID:0111982 oboInOwl:hasExactSynonym immunodeficiency 56 WARN duplicate_label_synonym DOID:0111983 oboInOwl:hasExactSynonym immunodeficiency 52 @@ -66552,7 +66401,6 @@ WARN duplicate_label_synonym https://omim.org/entry/102540 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/102545 oboInOwl:hasExactSynonym ACTG2 WARN duplicate_label_synonym https://omim.org/entry/102560 oboInOwl:hasExactSynonym ACTG1 WARN duplicate_label_synonym https://omim.org/entry/102565 oboInOwl:hasExactSynonym FLNC -WARN duplicate_label_synonym https://omim.org/entry/102570 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/102573 oboInOwl:hasExactSynonym ACTN2 WARN duplicate_label_synonym https://omim.org/entry/102574 oboInOwl:hasExactSynonym ACTN3 WARN duplicate_label_synonym https://omim.org/entry/102575 oboInOwl:hasExactSynonym ACTN1 @@ -66587,10 +66435,6 @@ WARN duplicate_label_synonym https://omim.org/entry/102776 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/102800 oboInOwl:hasExactSynonym adenosine triphosphatase deficiency, anemia due to WARN duplicate_label_synonym https://omim.org/entry/102900 oboInOwl:hasExactSynonym adenosine triphosphate, elevated, of erythrocytes WARN duplicate_label_synonym https://omim.org/entry/102910 oboInOwl:hasExactSynonym ATP5F1B -WARN duplicate_label_synonym https://omim.org/entry/102920 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/102930 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/102940 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/102970 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/102980 oboInOwl:hasExactSynonym ADCYAP1 WARN duplicate_label_synonym https://omim.org/entry/102981 oboInOwl:hasExactSynonym ADCYAP1R1 WARN duplicate_label_synonym https://omim.org/entry/103000 oboInOwl:hasExactSynonym AK1 @@ -66738,7 +66582,6 @@ WARN duplicate_label_synonym https://omim.org/entry/107000 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/107100 oboInOwl:hasExactSynonym anorectal anomalies WARN duplicate_label_synonym https://omim.org/entry/107200 oboInOwl:hasExactSynonym anosmia, isolated congenital WARN duplicate_label_synonym https://omim.org/entry/107250 oboInOwl:hasExactSynonym anterior segment dysgenesis 1 -WARN duplicate_label_synonym https://omim.org/entry/107253 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/107254 oboInOwl:hasExactSynonym antigen identified by monoclonal antibody 30.2a8 WARN duplicate_label_synonym https://omim.org/entry/107260 oboInOwl:hasExactSynonym antigen msk41 identified by monoclonal antibody e3 WARN duplicate_label_synonym https://omim.org/entry/107265 oboInOwl:hasExactSynonym CD19 @@ -66811,7 +66654,6 @@ WARN duplicate_label_synonym https://omim.org/entry/108360 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/108361 oboInOwl:hasExactSynonym ASGR2 WARN duplicate_label_synonym https://omim.org/entry/108370 oboInOwl:hasExactSynonym ASNS WARN duplicate_label_synonym https://omim.org/entry/108390 oboInOwl:hasExactSynonym asparagus, specific smell hypersensitivity -WARN duplicate_label_synonym https://omim.org/entry/108400 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/108410 oboInOwl:hasExactSynonym NARS1 WARN duplicate_label_synonym https://omim.org/entry/108420 oboInOwl:hasExactSynonym spermatogenic failure 2 WARN duplicate_label_synonym https://omim.org/entry/108450 oboInOwl:hasExactSynonym asymmetric short stature syndrome @@ -67161,13 +67003,12 @@ WARN duplicate_label_synonym https://omim.org/entry/116953 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/116955 oboInOwl:hasExactSynonym CNBP WARN duplicate_label_synonym https://omim.org/entry/116957 oboInOwl:hasExactSynonym RBL1 WARN duplicate_label_synonym https://omim.org/entry/116960 oboInOwl:hasExactSynonym MORF4 -WARN duplicate_label_synonym https://omim.org/entry/117000 oboInOwl:hasExactSynonym central core disease of muscle +WARN duplicate_label_synonym https://omim.org/entry/117000 oboInOwl:hasExactSynonym congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia WARN duplicate_label_synonym https://omim.org/entry/117100 oboInOwl:hasExactSynonym centralopathic epilepsy WARN duplicate_label_synonym https://omim.org/entry/117139 oboInOwl:hasExactSynonym CENPA WARN duplicate_label_synonym https://omim.org/entry/117140 oboInOwl:hasExactSynonym CENPB WARN duplicate_label_synonym https://omim.org/entry/117141 oboInOwl:hasExactSynonym CENPC1 WARN duplicate_label_synonym https://omim.org/entry/117143 oboInOwl:hasExactSynonym CENPE -WARN duplicate_label_synonym https://omim.org/entry/117200 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/117210 oboInOwl:hasExactSynonym spinocerebellar ataxia 31 WARN duplicate_label_synonym https://omim.org/entry/117300 oboInOwl:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, 2 WARN duplicate_label_synonym https://omim.org/entry/117340 oboInOwl:hasExactSynonym CDR2 @@ -67345,7 +67186,6 @@ WARN duplicate_label_synonym https://omim.org/entry/120950 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/120960 oboInOwl:hasExactSynonym C8B WARN duplicate_label_synonym https://omim.org/entry/120970 oboInOwl:hasExactSynonym cone-rod dystrophy 2 WARN duplicate_label_synonym https://omim.org/entry/120980 oboInOwl:hasExactSynonym ITGAM -WARN duplicate_label_synonym https://omim.org/entry/121000 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/121009 oboInOwl:hasExactSynonym CCN2 WARN duplicate_label_synonym https://omim.org/entry/121010 oboInOwl:hasExactSynonym PPBP WARN duplicate_label_synonym https://omim.org/entry/121011 oboInOwl:hasExactSynonym GJB2 @@ -67501,7 +67341,6 @@ WARN duplicate_label_synonym https://omim.org/entry/124450 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/124480 oboInOwl:hasExactSynonym deafness, congenital, with onychodystrophy, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/124490 oboInOwl:hasExactSynonym deafness, conductive stapedial, with ear malformation and facial palsy WARN duplicate_label_synonym https://omim.org/entry/124500 oboInOwl:hasExactSynonym vohwinkel syndrome -WARN duplicate_label_synonym https://omim.org/entry/124580 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/124700 oboInOwl:hasExactSynonym deafness, mid-tone neural WARN duplicate_label_synonym https://omim.org/entry/124900 oboInOwl:hasExactSynonym deafness, autosomal dominant 1, with or without thrombocytopenia WARN duplicate_label_synonym https://omim.org/entry/124950 oboInOwl:hasExactSynonym deafness, sensorineural, with peripheral neuropathy and arterial disease @@ -67535,7 +67374,6 @@ WARN duplicate_label_synonym https://omim.org/entry/125485 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/125490 oboInOwl:hasExactSynonym dentinogenesis imperfecta 1 WARN duplicate_label_synonym https://omim.org/entry/125500 oboInOwl:hasExactSynonym dentinogenesis imperfecta, shields iia 3 WARN duplicate_label_synonym https://omim.org/entry/125505 oboInOwl:hasExactSynonym DNASE1 -WARN duplicate_label_synonym https://omim.org/entry/125510 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/125520 oboInOwl:hasExactSynonym cayler cardiofacial syndrome WARN duplicate_label_synonym https://omim.org/entry/125530 oboInOwl:hasExactSynonym dermal ridges, nelson syndrome WARN duplicate_label_synonym https://omim.org/entry/125540 oboInOwl:hasExactSynonym dermal ridges, patternless @@ -67599,7 +67437,6 @@ WARN duplicate_label_synonym https://omim.org/entry/126410 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/126420 oboInOwl:hasExactSynonym TOP1 WARN duplicate_label_synonym https://omim.org/entry/126430 oboInOwl:hasExactSynonym TOP2A WARN duplicate_label_synonym https://omim.org/entry/126431 oboInOwl:hasExactSynonym TOP2B -WARN duplicate_label_synonym https://omim.org/entry/126440 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/126449 oboInOwl:hasExactSynonym DRD1 WARN duplicate_label_synonym https://omim.org/entry/126450 oboInOwl:hasExactSynonym DRD2 WARN duplicate_label_synonym https://omim.org/entry/126451 oboInOwl:hasExactSynonym DRD3 @@ -67768,7 +67605,6 @@ WARN duplicate_label_synonym https://omim.org/entry/132800 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/132810 oboInOwl:hasExactSynonym EPHX1 WARN duplicate_label_synonym https://omim.org/entry/132811 oboInOwl:hasExactSynonym EPHX2 WARN duplicate_label_synonym https://omim.org/entry/132850 oboInOwl:hasExactSynonym epstein-barr virus insertion site 1 -WARN duplicate_label_synonym https://omim.org/entry/132860 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/132880 oboInOwl:hasExactSynonym NR2F6 WARN duplicate_label_synonym https://omim.org/entry/132890 oboInOwl:hasExactSynonym NR2F1 WARN duplicate_label_synonym https://omim.org/entry/132900 oboInOwl:hasExactSynonym aortic aneurysm, familial thoracic 4 @@ -67806,9 +67642,6 @@ WARN duplicate_label_synonym https://omim.org/entry/133690 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/133700 oboInOwl:hasExactSynonym exostoses, multiple, iia 1 WARN duplicate_label_synonym https://omim.org/entry/133701 oboInOwl:hasExactSynonym exostoses, multiple, iia 2 WARN duplicate_label_synonym https://omim.org/entry/133705 oboInOwl:hasExactSynonym external auditory canal, bilateral atresia of, with congenital vertical talus -WARN duplicate_label_synonym https://omim.org/entry/133710 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/133730 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/133740 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/133750 oboInOwl:hasExactSynonym extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly WARN duplicate_label_synonym https://omim.org/entry/133780 oboInOwl:hasExactSynonym exudative vitreoretinopathy 1 WARN duplicate_label_synonym https://omim.org/entry/133800 oboInOwl:hasExactSynonym eyebrow, whorl 1n @@ -67915,7 +67748,6 @@ WARN duplicate_label_synonym https://omim.org/entry/136620 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/136630 oboInOwl:hasExactSynonym intellectual developmental disorder, fra12a iia WARN duplicate_label_synonym https://omim.org/entry/136640 oboInOwl:hasExactSynonym fragile site 9q32 WARN duplicate_label_synonym https://omim.org/entry/136660 oboInOwl:hasExactSynonym fragile site 17p12 -WARN duplicate_label_synonym https://omim.org/entry/136670 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/136680 oboInOwl:hasExactSynonym frasier syndrome WARN duplicate_label_synonym https://omim.org/entry/136760 oboInOwl:hasExactSynonym frontonasal dysplasia 1 WARN duplicate_label_synonym https://omim.org/entry/136800 oboInOwl:hasExactSynonym corneal dystrophy, fuchs endothelial, 1 @@ -68054,7 +67886,6 @@ WARN duplicate_label_synonym https://omim.org/entry/138360 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/138380 oboInOwl:hasExactSynonym GSTM2 WARN duplicate_label_synonym https://omim.org/entry/138385 oboInOwl:hasExactSynonym GSTM5 WARN duplicate_label_synonym https://omim.org/entry/138390 oboInOwl:hasExactSynonym GSTM3 -WARN duplicate_label_synonym https://omim.org/entry/138391 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/138400 oboInOwl:hasExactSynonym GAPDH WARN duplicate_label_synonym https://omim.org/entry/138420 oboInOwl:hasExactSynonym GPD1 WARN duplicate_label_synonym https://omim.org/entry/138430 oboInOwl:hasExactSynonym GPD2 @@ -68109,8 +67940,6 @@ WARN duplicate_label_synonym https://omim.org/entry/139190 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/139191 oboInOwl:hasExactSynonym GHRHR WARN duplicate_label_synonym https://omim.org/entry/139200 oboInOwl:hasExactSynonym GC WARN duplicate_label_synonym https://omim.org/entry/139210 oboInOwl:hasExactSynonym myhre syndrome -WARN duplicate_label_synonym https://omim.org/entry/139220 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/139230 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/139240 oboInOwl:hasExactSynonym GH2 WARN duplicate_label_synonym https://omim.org/entry/139250 oboInOwl:hasExactSynonym GH1 WARN duplicate_label_synonym https://omim.org/entry/139255 oboInOwl:hasExactSynonym MT3 @@ -68215,7 +68044,6 @@ WARN duplicate_label_synonym https://omim.org/entry/142400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/142408 oboInOwl:hasExactSynonym MST1 WARN duplicate_label_synonym https://omim.org/entry/142409 oboInOwl:hasExactSynonym HGF WARN duplicate_label_synonym https://omim.org/entry/142410 oboInOwl:hasExactSynonym HNF1A -WARN duplicate_label_synonym https://omim.org/entry/142420 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/142440 oboInOwl:hasExactSynonym HPN WARN duplicate_label_synonym https://omim.org/entry/142445 oboInOwl:hasExactSynonym NRG1 WARN duplicate_label_synonym https://omim.org/entry/142460 oboInOwl:hasExactSynonym SDC2 @@ -68268,7 +68096,6 @@ WARN duplicate_label_synonym https://omim.org/entry/142856 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/142857 oboInOwl:hasExactSynonym HLA-DRB1 WARN duplicate_label_synonym https://omim.org/entry/142858 oboInOwl:hasExactSynonym HLA-DPB1 WARN duplicate_label_synonym https://omim.org/entry/142860 oboInOwl:hasExactSynonym HLA-DRA -WARN duplicate_label_synonym https://omim.org/entry/142870 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/142871 oboInOwl:hasExactSynonym HLA-G WARN duplicate_label_synonym https://omim.org/entry/142880 oboInOwl:hasExactSynonym HLA-DPA1 WARN duplicate_label_synonym https://omim.org/entry/142890 oboInOwl:hasExactSynonym HLA-MT @@ -68333,8 +68160,6 @@ WARN duplicate_label_synonym https://omim.org/entry/143050 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/143054 oboInOwl:hasExactSynonym HIVEP2 WARN duplicate_label_synonym https://omim.org/entry/143055 oboInOwl:hasExactSynonym CCNT1 WARN duplicate_label_synonym https://omim.org/entry/143060 oboInOwl:hasExactSynonym MIC6 -WARN duplicate_label_synonym https://omim.org/entry/143070 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/143080 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/143089 oboInOwl:hasExactSynonym HTLF WARN duplicate_label_synonym https://omim.org/entry/143095 oboInOwl:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations WARN duplicate_label_synonym https://omim.org/entry/143100 oboInOwl:hasExactSynonym huntington disease @@ -68504,7 +68329,6 @@ WARN duplicate_label_synonym https://omim.org/entry/147370 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/147380 oboInOwl:hasExactSynonym INHA WARN duplicate_label_synonym https://omim.org/entry/147390 oboInOwl:hasExactSynonym INHBB WARN duplicate_label_synonym https://omim.org/entry/147400 oboInOwl:hasExactSynonym incisors, shovel-shaped -WARN duplicate_label_synonym https://omim.org/entry/147410 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/147421 oboInOwl:hasExactSynonym inclusion body myositis WARN duplicate_label_synonym https://omim.org/entry/147430 oboInOwl:hasExactSynonym marsili syndrome WARN duplicate_label_synonym https://omim.org/entry/147435 oboInOwl:hasExactSynonym IDO1 @@ -68514,7 +68338,6 @@ WARN duplicate_label_synonym https://omim.org/entry/147460 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/147470 oboInOwl:hasExactSynonym IGF2 WARN duplicate_label_synonym https://omim.org/entry/147480 oboInOwl:hasExactSynonym cholestasis, intrahepatic, of pregnancy, 1 WARN duplicate_label_synonym https://omim.org/entry/147485 oboInOwl:hasExactSynonym IPP -WARN duplicate_label_synonym https://omim.org/entry/147490 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/147510 oboInOwl:hasExactSynonym IRDN WARN duplicate_label_synonym https://omim.org/entry/147520 oboInOwl:hasExactSynonym ITPA WARN duplicate_label_synonym https://omim.org/entry/147521 oboInOwl:hasExactSynonym ITPKA @@ -68566,7 +68389,6 @@ WARN duplicate_label_synonym https://omim.org/entry/147679 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/147680 oboInOwl:hasExactSynonym IL2 WARN duplicate_label_synonym https://omim.org/entry/147681 oboInOwl:hasExactSynonym IL11 WARN duplicate_label_synonym https://omim.org/entry/147683 oboInOwl:hasExactSynonym IL13 -WARN duplicate_label_synonym https://omim.org/entry/147684 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/147685 oboInOwl:hasExactSynonym FOXK2 WARN duplicate_label_synonym https://omim.org/entry/147690 oboInOwl:hasExactSynonym IFIT1 WARN duplicate_label_synonym https://omim.org/entry/147700 oboInOwl:hasExactSynonym IDH1 @@ -68718,7 +68540,6 @@ WARN duplicate_label_synonym https://omim.org/entry/151520 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/151523 oboInOwl:hasExactSynonym CD37 WARN duplicate_label_synonym https://omim.org/entry/151525 oboInOwl:hasExactSynonym CD53 WARN duplicate_label_synonym https://omim.org/entry/151530 oboInOwl:hasExactSynonym ANPEP -WARN duplicate_label_synonym https://omim.org/entry/151550 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/151570 oboInOwl:hasExactSynonym LTA4H WARN duplicate_label_synonym https://omim.org/entry/151590 oboInOwl:hasExactSynonym lichen sclerosus et atrophicus WARN duplicate_label_synonym https://omim.org/entry/151600 oboInOwl:hasExactSynonym nail disorder, nonsyndromic congenital, 3 @@ -68874,7 +68695,6 @@ WARN duplicate_label_synonym https://omim.org/entry/155760 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/155770 oboInOwl:hasExactSynonym melanoma tumor antigen gp90 WARN duplicate_label_synonym https://omim.org/entry/155900 oboInOwl:hasExactSynonym melkersson-rosenthal syndrome WARN duplicate_label_synonym https://omim.org/entry/155950 oboInOwl:hasExactSynonym melorheostosis, isolated -WARN duplicate_label_synonym https://omim.org/entry/155960 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/155970 oboInOwl:hasExactSynonym MOX2 WARN duplicate_label_synonym https://omim.org/entry/155980 oboInOwl:hasExactSynonym membranous cranial ossification, delayed WARN duplicate_label_synonym https://omim.org/entry/156000 oboInOwl:hasExactSynonym meniere disease @@ -69083,7 +68903,7 @@ WARN duplicate_label_synonym https://omim.org/entry/161565 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/161600 oboInOwl:hasExactSynonym navicular bone, accessory WARN duplicate_label_synonym https://omim.org/entry/161650 oboInOwl:hasExactSynonym NEB WARN duplicate_label_synonym https://omim.org/entry/161700 oboInOwl:hasExactSynonym necrotizing encephalomyelopathy, subacute, of leigh, adult -WARN duplicate_label_synonym https://omim.org/entry/161800 oboInOwl:hasExactSynonym nemaline myopathy 3 +WARN duplicate_label_synonym https://omim.org/entry/161800 oboInOwl:hasExactSynonym congenital myopathy 2a, typical, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/161900 oboInOwl:hasExactSynonym renal failure, progressive, with hypertension WARN duplicate_label_synonym https://omim.org/entry/161950 oboInOwl:hasExactSynonym iga nephropathy, susceptibility to, 1 WARN duplicate_label_synonym https://omim.org/entry/162000 oboInOwl:hasExactSynonym tubulointerstitial kidney disease, autosomal dominant, 1 @@ -69152,7 +68972,6 @@ WARN duplicate_label_synonym https://omim.org/entry/163731 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/163800 oboInOwl:hasExactSynonym sick sinus syndrome 2 WARN duplicate_label_synonym https://omim.org/entry/163850 oboInOwl:hasExactSynonym noduli cutanei, multiple, with urinary tract abnormalities WARN duplicate_label_synonym https://omim.org/entry/163890 oboInOwl:hasExactSynonym SNCA -WARN duplicate_label_synonym https://omim.org/entry/163900 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/163905 oboInOwl:hasExactSynonym HMGB1 WARN duplicate_label_synonym https://omim.org/entry/163906 oboInOwl:hasExactSynonym HMGB2 WARN duplicate_label_synonym https://omim.org/entry/163910 oboInOwl:hasExactSynonym HMGN2 @@ -69206,7 +69025,6 @@ WARN duplicate_label_synonym https://omim.org/entry/164400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/164500 oboInOwl:hasExactSynonym spinocerebellar ataxia 7 WARN duplicate_label_synonym https://omim.org/entry/164680 oboInOwl:hasExactSynonym onychogryposis, pedal, with keratosis plantaris and coarse hair WARN duplicate_label_synonym https://omim.org/entry/164690 oboInOwl:hasExactSynonym ABL2 -WARN duplicate_label_synonym https://omim.org/entry/164710 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/164720 oboInOwl:hasExactSynonym ETS1 WARN duplicate_label_synonym https://omim.org/entry/164730 oboInOwl:hasExactSynonym AKT1 WARN duplicate_label_synonym https://omim.org/entry/164731 oboInOwl:hasExactSynonym AKT2 @@ -69228,7 +69046,6 @@ WARN duplicate_label_synonym https://omim.org/entry/164795 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/164800 oboInOwl:hasExactSynonym nail disorder, nonsyndromic congenital, 5 WARN duplicate_label_synonym https://omim.org/entry/164810 oboInOwl:hasExactSynonym FOS WARN duplicate_label_synonym https://omim.org/entry/164820 oboInOwl:hasExactSynonym WNT1 -WARN duplicate_label_synonym https://omim.org/entry/164830 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/164831 oboInOwl:hasExactSynonym BMI1 WARN duplicate_label_synonym https://omim.org/entry/164840 oboInOwl:hasExactSynonym MYCN WARN duplicate_label_synonym https://omim.org/entry/164850 oboInOwl:hasExactSynonym MYCL @@ -69438,7 +69255,6 @@ WARN duplicate_label_synonym https://omim.org/entry/170700 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/170710 oboInOwl:hasExactSynonym PRPH WARN duplicate_label_synonym https://omim.org/entry/170715 oboInOwl:hasExactSynonym PMP2 WARN duplicate_label_synonym https://omim.org/entry/170900 oboInOwl:hasExactSynonym pernicious anemia -WARN duplicate_label_synonym https://omim.org/entry/170950 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/170980 oboInOwl:hasExactSynonym peroneal nerve, accessory deep WARN duplicate_label_synonym https://omim.org/entry/170990 oboInOwl:hasExactSynonym peroxidase, salivary WARN duplicate_label_synonym https://omim.org/entry/170993 oboInOwl:hasExactSynonym PEX2 @@ -69461,7 +69277,6 @@ WARN duplicate_label_synonym https://omim.org/entry/171500 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/171640 oboInOwl:hasExactSynonym ACP5 WARN duplicate_label_synonym https://omim.org/entry/171650 oboInOwl:hasExactSynonym ACP2 WARN duplicate_label_synonym https://omim.org/entry/171660 oboInOwl:hasExactSynonym phosphatase, acid, of tissues -WARN duplicate_label_synonym https://omim.org/entry/171700 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/171720 oboInOwl:hasExactSynonym alkaline phosphatase, plasma level of, quantitative trait locus 1 WARN duplicate_label_synonym https://omim.org/entry/171740 oboInOwl:hasExactSynonym ALPI WARN duplicate_label_synonym https://omim.org/entry/171750 oboInOwl:hasExactSynonym alkaline phosphatase, intestinal, fetal form @@ -69758,7 +69573,6 @@ WARN duplicate_label_synonym https://omim.org/entry/177750 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/177800 oboInOwl:hasExactSynonym pseudopapilledema WARN duplicate_label_synonym https://omim.org/entry/177820 oboInOwl:hasExactSynonym pseudo-von willebrand disease WARN duplicate_label_synonym https://omim.org/entry/177850 oboInOwl:hasExactSynonym pseudoxanthoma elasticum, forme fruste -WARN duplicate_label_synonym https://omim.org/entry/177860 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/177900 oboInOwl:hasExactSynonym psoriasis 1, susceptibility to WARN duplicate_label_synonym https://omim.org/entry/177980 oboInOwl:hasExactSynonym pterygia, impaired intellectual development, and distinctive craniofacial features WARN duplicate_label_synonym https://omim.org/entry/177990 oboInOwl:hasExactSynonym pterygium colli, isolated @@ -69836,7 +69650,6 @@ WARN duplicate_label_synonym https://omim.org/entry/179620 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/179650 oboInOwl:hasExactSynonym red cell permeability defect WARN duplicate_label_synonym https://omim.org/entry/179700 oboInOwl:hasExactSynonym red cell phospholipid defect with hemolysis WARN duplicate_label_synonym https://omim.org/entry/179710 oboInOwl:hasExactSynonym RCC1 -WARN duplicate_label_synonym https://omim.org/entry/179715 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/179730 oboInOwl:hasExactSynonym RLN1 WARN duplicate_label_synonym https://omim.org/entry/179740 oboInOwl:hasExactSynonym RLN2 WARN duplicate_label_synonym https://omim.org/entry/179755 oboInOwl:hasExactSynonym PRCC @@ -69885,7 +69698,6 @@ WARN duplicate_label_synonym https://omim.org/entry/180290 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/180295 oboInOwl:hasExactSynonym rhabdomyosarcoma, embryonal, 2 WARN duplicate_label_synonym https://omim.org/entry/180297 oboInOwl:hasExactSynonym RHAG WARN duplicate_label_synonym https://omim.org/entry/180300 oboInOwl:hasExactSynonym rheumatoid arthritis -WARN duplicate_label_synonym https://omim.org/entry/180330 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/180350 oboInOwl:hasExactSynonym rheumatoid nodulosis WARN duplicate_label_synonym https://omim.org/entry/180360 oboInOwl:hasExactSynonym rhiny WARN duplicate_label_synonym https://omim.org/entry/180370 oboInOwl:hasExactSynonym TST @@ -69965,8 +69777,6 @@ WARN duplicate_label_synonym https://omim.org/entry/180902 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/180903 oboInOwl:hasExactSynonym RYR3 WARN duplicate_label_synonym https://omim.org/entry/180910 oboInOwl:hasExactSynonym salivary esterase WARN duplicate_label_synonym https://omim.org/entry/180920 oboInOwl:hasExactSynonym aplasia of lacrimal and salivary glands -WARN duplicate_label_synonym https://omim.org/entry/180930 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/180940 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/180950 oboInOwl:hasExactSynonym salivary substance, clostridium botulinum iia WARN duplicate_label_synonym https://omim.org/entry/180960 oboInOwl:hasExactSynonym AHCY WARN duplicate_label_synonym https://omim.org/entry/180980 oboInOwl:hasExactSynonym AMD1 @@ -69985,7 +69795,6 @@ WARN duplicate_label_synonym https://omim.org/entry/181300 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/181350 oboInOwl:hasExactSynonym emery-dreifuss muscular dystrophy 2, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/181400 oboInOwl:hasExactSynonym scapuloperoneal syndrome, neurogenic, kaeser iia WARN duplicate_label_synonym https://omim.org/entry/181405 oboInOwl:hasExactSynonym scapuloperoneal spinal muscular atrophy -WARN duplicate_label_synonym https://omim.org/entry/181430 oboInOwl:hasExactSynonym scapuloperoneal myopathy, myh7-related WARN duplicate_label_synonym https://omim.org/entry/181440 oboInOwl:hasExactSynonym scheuermann disease WARN duplicate_label_synonym https://omim.org/entry/181450 oboInOwl:hasExactSynonym ulnar-mammary syndrome WARN duplicate_label_synonym https://omim.org/entry/181460 oboInOwl:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to @@ -70099,7 +69908,6 @@ WARN duplicate_label_synonym https://omim.org/entry/182889 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/182890 oboInOwl:hasExactSynonym PRM2 WARN duplicate_label_synonym https://omim.org/entry/182891 oboInOwl:hasExactSynonym SRM WARN duplicate_label_synonym https://omim.org/entry/182900 oboInOwl:hasExactSynonym spherocytosis, iia 1 -WARN duplicate_label_synonym https://omim.org/entry/182920 oboInOwl:hasExactSynonym myopathy, spheroid body WARN duplicate_label_synonym https://omim.org/entry/182940 oboInOwl:hasExactSynonym neural tube defects, susceptibility to WARN duplicate_label_synonym https://omim.org/entry/182950 oboInOwl:hasExactSynonym spinal arachnoiditis WARN duplicate_label_synonym https://omim.org/entry/182960 oboInOwl:hasExactSynonym neuronopathy, distal hereditary motor, iia 1 @@ -70111,7 +69919,6 @@ WARN duplicate_label_synonym https://omim.org/entry/183050 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/183086 oboInOwl:hasExactSynonym spinocerebellar ataxia 6 WARN duplicate_label_synonym https://omim.org/entry/183090 oboInOwl:hasExactSynonym spinocerebellar ataxia 2 WARN duplicate_label_synonym https://omim.org/entry/183100 oboInOwl:hasExactSynonym spinocerebellar atrophy with pupillary paralysis -WARN duplicate_label_synonym https://omim.org/entry/183250 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/183300 oboInOwl:hasExactSynonym splenogonadal fusion with limb defects and micrognathia WARN duplicate_label_synonym https://omim.org/entry/183350 oboInOwl:hasExactSynonym splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells WARN duplicate_label_synonym https://omim.org/entry/183400 oboInOwl:hasExactSynonym split lower 51p @@ -70169,7 +69976,6 @@ WARN duplicate_label_synonym https://omim.org/entry/185261 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/185300 oboInOwl:hasExactSynonym sturge-weber syndrome WARN duplicate_label_synonym https://omim.org/entry/185430 oboInOwl:hasExactSynonym CLU WARN duplicate_label_synonym https://omim.org/entry/185440 oboInOwl:hasExactSynonym ST2 -WARN duplicate_label_synonym https://omim.org/entry/185450 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/185460 oboInOwl:hasExactSynonym sulfhemoglobinemia, congenital WARN duplicate_label_synonym https://omim.org/entry/185470 oboInOwl:hasExactSynonym SDHB WARN duplicate_label_synonym https://omim.org/entry/185480 oboInOwl:hasExactSynonym suprabulbar paresis, congenital @@ -70183,7 +69989,6 @@ WARN duplicate_label_synonym https://omim.org/entry/185560 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/185570 oboInOwl:hasExactSynonym SA17 WARN duplicate_label_synonym https://omim.org/entry/185580 oboInOwl:hasExactSynonym S13 WARN duplicate_label_synonym https://omim.org/entry/185590 oboInOwl:hasExactSynonym S14 -WARN duplicate_label_synonym https://omim.org/entry/185595 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/185600 oboInOwl:hasExactSynonym symphalangism of toes WARN duplicate_label_synonym https://omim.org/entry/185605 oboInOwl:hasExactSynonym SYT1 WARN duplicate_label_synonym https://omim.org/entry/185610 oboInOwl:hasExactSynonym surface polypeptides, anonymous @@ -70219,7 +70024,6 @@ WARN duplicate_label_synonym https://omim.org/entry/186580 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/186590 oboInOwl:hasExactSynonym STX1A WARN duplicate_label_synonym https://omim.org/entry/186591 oboInOwl:hasExactSynonym STX4 WARN duplicate_label_synonym https://omim.org/entry/186600 oboInOwl:hasExactSynonym syringomas, multiple -WARN duplicate_label_synonym https://omim.org/entry/186690 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/186700 oboInOwl:hasExactSynonym syringomyelia, noncommunicating isolated WARN duplicate_label_synonym https://omim.org/entry/186711 oboInOwl:hasExactSynonym CD27 WARN duplicate_label_synonym https://omim.org/entry/186720 oboInOwl:hasExactSynonym CD6 @@ -70243,7 +70047,6 @@ WARN duplicate_label_synonym https://omim.org/entry/186860 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/186880 oboInOwl:hasExactSynonym TRAC WARN duplicate_label_synonym https://omim.org/entry/186890 oboInOwl:hasExactSynonym tear protein, anodal WARN duplicate_label_synonym https://omim.org/entry/186910 oboInOwl:hasExactSynonym CD8A -WARN duplicate_label_synonym https://omim.org/entry/186920 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/186921 oboInOwl:hasExactSynonym LMO1 WARN duplicate_label_synonym https://omim.org/entry/186930 oboInOwl:hasExactSynonym TRBC1 WARN duplicate_label_synonym https://omim.org/entry/186940 oboInOwl:hasExactSynonym CD4 @@ -70555,7 +70358,6 @@ WARN duplicate_label_synonym https://omim.org/entry/191950 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/192000 oboInOwl:hasExactSynonym uterine anomalies WARN duplicate_label_synonym https://omim.org/entry/192020 oboInOwl:hasExactSynonym SCGB1A1 WARN duplicate_label_synonym https://omim.org/entry/192050 oboInOwl:hasExactSynonym uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis -WARN duplicate_label_synonym https://omim.org/entry/192070 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/192090 oboInOwl:hasExactSynonym CDH1 WARN duplicate_label_synonym https://omim.org/entry/192100 oboInOwl:hasExactSynonym uvula, bifid WARN duplicate_label_synonym https://omim.org/entry/192130 oboInOwl:hasExactSynonym ATP6V0A1 @@ -70616,7 +70418,6 @@ WARN duplicate_label_synonym https://omim.org/entry/193520 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/193525 oboInOwl:hasExactSynonym WEE1 WARN duplicate_label_synonym https://omim.org/entry/193530 oboInOwl:hasExactSynonym weyers acrofacial dysostosis WARN duplicate_label_synonym https://omim.org/entry/193670 oboInOwl:hasExactSynonym whim syndrome 1 -WARN duplicate_label_synonym https://omim.org/entry/193675 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/193700 oboInOwl:hasExactSynonym arthrogryposis, distal, iia 2a WARN duplicate_label_synonym https://omim.org/entry/193900 oboInOwl:hasExactSynonym white sponge nevus 1 WARN duplicate_label_synonym https://omim.org/entry/194000 oboInOwl:hasExactSynonym widow's peak @@ -70645,7 +70446,6 @@ WARN duplicate_label_synonym https://omim.org/entry/194480 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/194490 oboInOwl:hasExactSynonym zinc finger protein 1 WARN duplicate_label_synonym https://omim.org/entry/194500 oboInOwl:hasExactSynonym ZNF2 WARN duplicate_label_synonym https://omim.org/entry/194510 oboInOwl:hasExactSynonym ZNF3 -WARN duplicate_label_synonym https://omim.org/entry/194520 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/194521 oboInOwl:hasExactSynonym ZNF33A WARN duplicate_label_synonym https://omim.org/entry/194522 oboInOwl:hasExactSynonym ZNF33B WARN duplicate_label_synonym https://omim.org/entry/194524 oboInOwl:hasExactSynonym ZNF18 @@ -70654,7 +70454,6 @@ WARN duplicate_label_synonym https://omim.org/entry/194526 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/194527 oboInOwl:hasExactSynonym ZNF23 WARN duplicate_label_synonym https://omim.org/entry/194528 oboInOwl:hasExactSynonym ZNF25 WARN duplicate_label_synonym https://omim.org/entry/194529 oboInOwl:hasExactSynonym ZNF22 -WARN duplicate_label_synonym https://omim.org/entry/194530 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/194531 oboInOwl:hasExactSynonym ZNF7 WARN duplicate_label_synonym https://omim.org/entry/194532 oboInOwl:hasExactSynonym ZNF8 WARN duplicate_label_synonym https://omim.org/entry/194533 oboInOwl:hasExactSynonym ZNF35 @@ -70705,7 +70504,6 @@ WARN duplicate_label_synonym https://omim.org/entry/200600 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/200610 oboInOwl:hasExactSynonym achondrogenesis, iia 2 WARN duplicate_label_synonym https://omim.org/entry/200700 oboInOwl:hasExactSynonym acromesomelic dysplasia 2a WARN duplicate_label_synonym https://omim.org/entry/200900 oboInOwl:hasExactSynonym short-limb skeletal dysplasia with severe combined immunodeficiency -WARN duplicate_label_synonym https://omim.org/entry/200930 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/200950 oboInOwl:hasExactSynonym acid phosphatase deficiency WARN duplicate_label_synonym https://omim.org/entry/200970 oboInOwl:hasExactSynonym ackerman syndrome WARN duplicate_label_synonym https://omim.org/entry/200980 oboInOwl:hasExactSynonym acrorenal-mandibular syndrome @@ -70770,7 +70568,6 @@ WARN duplicate_label_synonym https://omim.org/entry/204100 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/204110 oboInOwl:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis WARN duplicate_label_synonym https://omim.org/entry/204200 oboInOwl:hasExactSynonym ceroid lipofuscinosis, neuronal, 3 WARN duplicate_label_synonym https://omim.org/entry/204300 oboInOwl:hasExactSynonym ceroid lipofuscinosis, neuronal, 6b (kufs type) -WARN duplicate_label_synonym https://omim.org/entry/204400 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/204500 oboInOwl:hasExactSynonym ceroid lipofuscinosis, neuronal, 2 WARN duplicate_label_synonym https://omim.org/entry/204650 oboInOwl:hasExactSynonym amelogenesis imperfecta, iia 1c WARN duplicate_label_synonym https://omim.org/entry/204690 oboInOwl:hasExactSynonym amelogenesis imperfecta, iia 1g @@ -70893,7 +70690,6 @@ WARN duplicate_label_synonym https://omim.org/entry/211370 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/211380 oboInOwl:hasExactSynonym elsahy-waters syndrome WARN duplicate_label_synonym https://omim.org/entry/211390 oboInOwl:hasExactSynonym sabinas brittle hair syndrome WARN duplicate_label_synonym https://omim.org/entry/211400 oboInOwl:hasExactSynonym bronchiectasis with or without elevated sweat chloride 1 -WARN duplicate_label_synonym https://omim.org/entry/211420 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/211450 oboInOwl:hasExactSynonym williams-campbell syndrome WARN duplicate_label_synonym https://omim.org/entry/211480 oboInOwl:hasExactSynonym buerger disease WARN duplicate_label_synonym https://omim.org/entry/211500 oboInOwl:hasExactSynonym fazio-londe disease @@ -70934,8 +70730,6 @@ WARN duplicate_label_synonym https://omim.org/entry/212400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/212500 oboInOwl:hasExactSynonym cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy WARN duplicate_label_synonym https://omim.org/entry/212540 oboInOwl:hasExactSynonym cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome WARN duplicate_label_synonym https://omim.org/entry/212550 oboInOwl:hasExactSynonym optic disc anomalies with retinal and/or macular dystrophy -WARN duplicate_label_synonym https://omim.org/entry/212600 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/212700 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/212710 oboInOwl:hasExactSynonym cataract-ataxia-deafness-retardation syndrome WARN duplicate_label_synonym https://omim.org/entry/212720 oboInOwl:hasExactSynonym martsolf syndrome 1 WARN duplicate_label_synonym https://omim.org/entry/212750 oboInOwl:hasExactSynonym celiac disease, susceptibility to, 1 @@ -71088,7 +70882,6 @@ WARN duplicate_label_synonym https://omim.org/entry/220400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/220500 oboInOwl:hasExactSynonym deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome WARN duplicate_label_synonym https://omim.org/entry/220600 oboInOwl:hasExactSynonym split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/220900 oboInOwl:hasExactSynonym deafness, congenital, with total albinism -WARN duplicate_label_synonym https://omim.org/entry/221000 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/221200 oboInOwl:hasExactSynonym deafness and myopia WARN duplicate_label_synonym https://omim.org/entry/221300 oboInOwl:hasExactSynonym deafness, conductive, with malformed external ear WARN duplicate_label_synonym https://omim.org/entry/221320 oboInOwl:hasExactSynonym deafness, conductive, with ptosis and skeletal anomalies @@ -71170,7 +70963,6 @@ WARN duplicate_label_synonym https://omim.org/entry/225290 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/225300 oboInOwl:hasExactSynonym split-hand/foot malformation 6 WARN duplicate_label_synonym https://omim.org/entry/225310 oboInOwl:hasExactSynonym ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality WARN duplicate_label_synonym https://omim.org/entry/225320 oboInOwl:hasExactSynonym ehlers-danlos syndrome, cardiac valvular iia -WARN duplicate_label_synonym https://omim.org/entry/225360 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/225400 oboInOwl:hasExactSynonym ehlers-danlos syndrome, kyphoscoliotic type, 1 WARN duplicate_label_synonym https://omim.org/entry/225410 oboInOwl:hasExactSynonym ehlers-danlos syndrome, dermatosparaxis iia WARN duplicate_label_synonym https://omim.org/entry/225500 oboInOwl:hasExactSynonym ellis-van creveld syndrome @@ -71292,10 +71084,8 @@ WARN duplicate_label_synonym https://omim.org/entry/231095 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/231100 oboInOwl:hasExactSynonym hemochromatosis, neonatal WARN duplicate_label_synonym https://omim.org/entry/231200 oboInOwl:hasExactSynonym bernard-soulier syndrome WARN duplicate_label_synonym https://omim.org/entry/231300 oboInOwl:hasExactSynonym glaucoma 3, primary congenital, a -WARN duplicate_label_synonym https://omim.org/entry/231400 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/231530 oboInOwl:hasExactSynonym 3-hydroxyacyl-coa dehydrogenase deficiency WARN duplicate_label_synonym https://omim.org/entry/231550 oboInOwl:hasExactSynonym achalasia-addisonianism-alacrima syndrome -WARN duplicate_label_synonym https://omim.org/entry/231610 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/231630 oboInOwl:hasExactSynonym monosodium glutamate sensitivity WARN duplicate_label_synonym https://omim.org/entry/231670 oboInOwl:hasExactSynonym glutaric acidemia 1 WARN duplicate_label_synonym https://omim.org/entry/231675 oboInOwl:hasExactSynonym ETFDH @@ -71411,7 +71201,7 @@ WARN duplicate_label_synonym https://omim.org/entry/238600 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/238700 oboInOwl:hasExactSynonym hyperlysinemia, iia 1 WARN duplicate_label_synonym https://omim.org/entry/238710 oboInOwl:hasExactSynonym hyperlysinemia due to defect 1n lysine transport into mitochondria WARN duplicate_label_synonym https://omim.org/entry/238750 oboInOwl:hasExactSynonym hyperlysinuria with hyperammonemia -WARN duplicate_label_synonym https://omim.org/entry/238800 oboInOwl:hasExactSynonym hypermetabolism due to defect 1n mitochondria +WARN duplicate_label_synonym https://omim.org/entry/238800 oboInOwl:hasExactSynonym hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 WARN duplicate_label_synonym https://omim.org/entry/238950 oboInOwl:hasExactSynonym hyperopia, high WARN duplicate_label_synonym https://omim.org/entry/238970 oboInOwl:hasExactSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome WARN duplicate_label_synonym https://omim.org/entry/239000 oboInOwl:hasExactSynonym paget disease of bone 5, juvenile-onset @@ -71420,7 +71210,6 @@ WARN duplicate_label_synonym https://omim.org/entry/239199 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/239200 oboInOwl:hasExactSynonym hyperparathyroidism, neonatal severe WARN duplicate_label_synonym https://omim.org/entry/239300 oboInOwl:hasExactSynonym hyperphosphatasia with impaired intellectual development syndrome 1 WARN duplicate_label_synonym https://omim.org/entry/239350 oboInOwl:hasExactSynonym hyperphosphatemia, polyuria, and seizures -WARN duplicate_label_synonym https://omim.org/entry/239400 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/239500 oboInOwl:hasExactSynonym hyperprolinemia, iia 1 WARN duplicate_label_synonym https://omim.org/entry/239510 oboInOwl:hasExactSynonym hyperprolinemia, iia 2 WARN duplicate_label_synonym https://omim.org/entry/239710 oboInOwl:hasExactSynonym acrofrontofacionasal dysostosis 2 @@ -71430,7 +71219,6 @@ WARN duplicate_label_synonym https://omim.org/entry/239840 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/239850 oboInOwl:hasExactSynonym cantu syndrome WARN duplicate_label_synonym https://omim.org/entry/239900 oboInOwl:hasExactSynonym hypertrophic neuropathy and cataract WARN duplicate_label_synonym https://omim.org/entry/240000 oboInOwl:hasExactSynonym hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase -WARN duplicate_label_synonym https://omim.org/entry/240100 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/240150 oboInOwl:hasExactSynonym hypervitaminosis a, susceptibility to WARN duplicate_label_synonym https://omim.org/entry/240200 oboInOwl:hasExactSynonym hypoadrenocorticism, familial WARN duplicate_label_synonym https://omim.org/entry/240300 oboInOwl:hasExactSynonym autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia @@ -71474,7 +71262,6 @@ WARN duplicate_label_synonym https://omim.org/entry/242600 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/242670 oboInOwl:hasExactSynonym ciliary dyskinesia with defective radial spokes WARN duplicate_label_synonym https://omim.org/entry/242680 oboInOwl:hasExactSynonym ciliary dyskinesia with excessively long cilia WARN duplicate_label_synonym https://omim.org/entry/242700 oboInOwl:hasExactSynonym t-cell immunodeficiency with thymic aplasia -WARN duplicate_label_synonym https://omim.org/entry/242800 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/242840 oboInOwl:hasExactSynonym vici syndrome WARN duplicate_label_synonym https://omim.org/entry/242850 oboInOwl:hasExactSynonym immune deficiency disease WARN duplicate_label_synonym https://omim.org/entry/242860 oboInOwl:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome 1 @@ -71530,7 +71317,6 @@ WARN duplicate_label_synonym https://omim.org/entry/245349 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/245400 oboInOwl:hasExactSynonym mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) WARN duplicate_label_synonym https://omim.org/entry/245450 oboInOwl:hasExactSynonym d-lactic aciduria with gout WARN duplicate_label_synonym https://omim.org/entry/245480 oboInOwl:hasExactSynonym specific granule deficiency 1 -WARN duplicate_label_synonym https://omim.org/entry/245500 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/245550 oboInOwl:hasExactSynonym lambert syndrome WARN duplicate_label_synonym https://omim.org/entry/245552 oboInOwl:hasExactSynonym lambotte syndrome WARN duplicate_label_synonym https://omim.org/entry/245570 oboInOwl:hasExactSynonym epilepsy, focal, with speech disorder and with or without impaired intellectual development @@ -71620,7 +71406,6 @@ WARN duplicate_label_synonym https://omim.org/entry/249660 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/249670 oboInOwl:hasExactSynonym mesoaxial hexadactyly and cardiac malformation WARN duplicate_label_synonym https://omim.org/entry/249700 oboInOwl:hasExactSynonym langer mesomelic dysplasia WARN duplicate_label_synonym https://omim.org/entry/249710 oboInOwl:hasExactSynonym mesomelic limb shortening and bowing -WARN duplicate_label_synonym https://omim.org/entry/249800 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/249900 oboInOwl:hasExactSynonym metachromatic leukodystrophy due to saposin B deficiency WARN duplicate_label_synonym https://omim.org/entry/250100 oboInOwl:hasExactSynonym metachromatic leukodystrophy WARN duplicate_label_synonym https://omim.org/entry/250215 oboInOwl:hasExactSynonym metaphyseal acroscyphodysplasia @@ -71675,7 +71460,6 @@ WARN duplicate_label_synonym https://omim.org/entry/251945 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/251950 oboInOwl:hasExactSynonym mitochondrial myopathy with lactic acidosis WARN duplicate_label_synonym https://omim.org/entry/252010 oboInOwl:hasExactSynonym mitochondrial complex 1 deficiency, nuclear iia 1 WARN duplicate_label_synonym https://omim.org/entry/252011 oboInOwl:hasExactSynonym mitochondrial complex 2 deficiency, nuclear iia 1 -WARN duplicate_label_synonym https://omim.org/entry/252030 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/252100 oboInOwl:hasExactSynonym mohr syndrome WARN duplicate_label_synonym https://omim.org/entry/252150 oboInOwl:hasExactSynonym molybdenum cofactor deficiency, complementation group a WARN duplicate_label_synonym https://omim.org/entry/252160 oboInOwl:hasExactSynonym molybdenum cofactor deficiency, complementation group B @@ -71688,7 +71472,6 @@ WARN duplicate_label_synonym https://omim.org/entry/252500 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/252600 oboInOwl:hasExactSynonym mucolipidosis 3 alpha/beta WARN duplicate_label_synonym https://omim.org/entry/252605 oboInOwl:hasExactSynonym mucolipidosis 3 gamma WARN duplicate_label_synonym https://omim.org/entry/252650 oboInOwl:hasExactSynonym mucolipidosis 4 -WARN duplicate_label_synonym https://omim.org/entry/252700 oboInOwl:hasExactSynonym mucopolysaccharidoses, unclassified types WARN duplicate_label_synonym https://omim.org/entry/252800 oboInOwl:hasExactSynonym IDUA WARN duplicate_label_synonym https://omim.org/entry/252900 oboInOwl:hasExactSynonym mucopolysaccharidosis, iia 3a WARN duplicate_label_synonym https://omim.org/entry/252920 oboInOwl:hasExactSynonym mucopolysaccharidosis, iia 3b @@ -71708,7 +71491,6 @@ WARN duplicate_label_synonym https://omim.org/entry/253300 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/253310 oboInOwl:hasExactSynonym lethal congenital contracture syndrome 1 WARN duplicate_label_synonym https://omim.org/entry/253320 oboInOwl:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism WARN duplicate_label_synonym https://omim.org/entry/253400 oboInOwl:hasExactSynonym spinal muscular atrophy, iia 3 -WARN duplicate_label_synonym https://omim.org/entry/253500 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/253550 oboInOwl:hasExactSynonym spinal muscular atrophy, iia 2 WARN duplicate_label_synonym https://omim.org/entry/253590 oboInOwl:hasExactSynonym muscular dystrophy, adult-onset, with leukoencephalopathy WARN duplicate_label_synonym https://omim.org/entry/253600 oboInOwl:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive 1 @@ -71743,11 +71525,11 @@ WARN duplicate_label_synonym https://omim.org/entry/255110 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/255120 oboInOwl:hasExactSynonym carnitine palmitoyltransferase 1 deficiency WARN duplicate_label_synonym https://omim.org/entry/255125 oboInOwl:hasExactSynonym myopathy with lactic acidosis, hereditary WARN duplicate_label_synonym https://omim.org/entry/255140 oboInOwl:hasExactSynonym myopathy with giant abnormal mitochondria -WARN duplicate_label_synonym https://omim.org/entry/255160 oboInOwl:hasExactSynonym myopathy, myosin storage, autosomal recessive +WARN duplicate_label_synonym https://omim.org/entry/255160 oboInOwl:hasExactSynonym congenital myopathy 7b, myosin storage, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/255200 oboInOwl:hasExactSynonym myopathy, centronuclear, 2 WARN duplicate_label_synonym https://omim.org/entry/255300 oboInOwl:hasExactSynonym batten-turner congenital myopathy -WARN duplicate_label_synonym https://omim.org/entry/255310 oboInOwl:hasExactSynonym myopathy, congenital, with fiber-type disproportion -WARN duplicate_label_synonym https://omim.org/entry/255320 oboInOwl:hasExactSynonym minicore myopathy with external ophthalmoplegia +WARN duplicate_label_synonym https://omim.org/entry/255310 oboInOwl:hasExactSynonym congenital myopathy 4a, autosomal dominant +WARN duplicate_label_synonym https://omim.org/entry/255320 oboInOwl:hasExactSynonym congenital myopathy 1b, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/255500 oboInOwl:hasExactSynonym myopia 18, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/255600 oboInOwl:hasExactSynonym myosclerosis, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/255700 oboInOwl:hasExactSynonym myotonia congenita, autosomal recessive @@ -71756,7 +71538,7 @@ WARN duplicate_label_synonym https://omim.org/entry/255800 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/255900 oboInOwl:hasExactSynonym myxedema WARN duplicate_label_synonym https://omim.org/entry/255960 oboInOwl:hasExactSynonym myxoma, intracardiac WARN duplicate_label_synonym https://omim.org/entry/255990 oboInOwl:hasExactSynonym nathalie syndrome -WARN duplicate_label_synonym https://omim.org/entry/255995 oboInOwl:hasExactSynonym myopathy, congenital, bailey-bloch +WARN duplicate_label_synonym https://omim.org/entry/255995 oboInOwl:hasExactSynonym congenital myopathy 13 WARN duplicate_label_synonym https://omim.org/entry/256000 oboInOwl:hasExactSynonym leigh syndrome WARN duplicate_label_synonym https://omim.org/entry/256020 oboInOwl:hasExactSynonym focal segmental glomerulosclerosis 10 WARN duplicate_label_synonym https://omim.org/entry/256030 oboInOwl:hasExactSynonym nemaline myopathy 2 @@ -71898,7 +71680,6 @@ WARN duplicate_label_synonym https://omim.org/entry/261600 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/261630 oboInOwl:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c WARN duplicate_label_synonym https://omim.org/entry/261640 oboInOwl:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a WARN duplicate_label_synonym https://omim.org/entry/261650 oboInOwl:hasExactSynonym phosphoenolpyruvate carboxykinase deficiency, mitochondrial -WARN duplicate_label_synonym https://omim.org/entry/261660 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/261670 oboInOwl:hasExactSynonym glycogen storage disease 10 WARN duplicate_label_synonym https://omim.org/entry/261680 oboInOwl:hasExactSynonym phosphoenolpyruvate carboxykinase deficiency, cytosolic WARN duplicate_label_synonym https://omim.org/entry/261740 oboInOwl:hasExactSynonym glycogen storage disease of heart, lethal congenital @@ -71960,7 +71741,6 @@ WARN duplicate_label_synonym https://omim.org/entry/264500 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/264600 oboInOwl:hasExactSynonym pseudovaginal perineoscrotal hypospadias WARN duplicate_label_synonym https://omim.org/entry/264700 oboInOwl:hasExactSynonym vitamin d hydroxylation-deficient rickets, iia 1a WARN duplicate_label_synonym https://omim.org/entry/264800 oboInOwl:hasExactSynonym pseudoxanthoma elasticum -WARN duplicate_label_synonym https://omim.org/entry/264810 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/264900 oboInOwl:hasExactSynonym F11 WARN duplicate_label_synonym https://omim.org/entry/265000 oboInOwl:hasExactSynonym multiple pterygium syndrome, escobar variant WARN duplicate_label_synonym https://omim.org/entry/265050 oboInOwl:hasExactSynonym 3mc syndrome 2 @@ -72191,7 +71971,6 @@ WARN duplicate_label_synonym https://omim.org/entry/275370 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/275400 oboInOwl:hasExactSynonym oliver-mcfarlane syndrome WARN duplicate_label_synonym https://omim.org/entry/275450 oboInOwl:hasExactSynonym trichoodontoonychial dysplasia with bone deficiency WARN duplicate_label_synonym https://omim.org/entry/275595 oboInOwl:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet -WARN duplicate_label_synonym https://omim.org/entry/275600 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/275630 oboInOwl:hasExactSynonym chanarin-dorfman syndrome WARN duplicate_label_synonym https://omim.org/entry/275900 oboInOwl:hasExactSynonym spastic paraplegia 20, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/276000 oboInOwl:hasExactSynonym PRSS1 @@ -72653,7 +72432,7 @@ WARN duplicate_label_synonym https://omim.org/entry/300422 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/300423 oboInOwl:hasExactSynonym intellectual developmental disorder, x-linked, syndromic, hedera iia WARN duplicate_label_synonym https://omim.org/entry/300424 oboInOwl:hasExactSynonym retinitis pigmentosa 23 WARN duplicate_label_synonym https://omim.org/entry/300425 oboInOwl:hasExactSynonym autism, susceptibility to, X-linked 1 -WARN duplicate_label_synonym https://omim.org/entry/300427 oboInOwl:hasExactSynonym NLGN4 +WARN duplicate_label_synonym https://omim.org/entry/300427 oboInOwl:hasExactSynonym NLGN4X WARN duplicate_label_synonym https://omim.org/entry/300428 oboInOwl:hasExactSynonym intellectual developmental disorder, X-linked 2 WARN duplicate_label_synonym https://omim.org/entry/300429 oboInOwl:hasExactSynonym ARHGEF9 WARN duplicate_label_synonym https://omim.org/entry/300431 oboInOwl:hasExactSynonym atkin-flaitz syndrome @@ -72713,10 +72492,8 @@ WARN duplicate_label_synonym https://omim.org/entry/300490 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/300491 oboInOwl:hasExactSynonym epilepsy, X-linked 1, with variable learning disabilities and behavior disorders WARN duplicate_label_synonym https://omim.org/entry/300492 oboInOwl:hasExactSynonym FAM3A WARN duplicate_label_synonym https://omim.org/entry/300493 oboInOwl:hasExactSynonym SPANXA2 -WARN duplicate_label_synonym https://omim.org/entry/300494 oboInOwl:hasExactSynonym asperger syndrome, x-linked, susceptibility to, 1 WARN duplicate_label_synonym https://omim.org/entry/300495 oboInOwl:hasExactSynonym autism, susceptibility to, X-linked 2 WARN duplicate_label_synonym https://omim.org/entry/300496 oboInOwl:hasExactSynonym autism, susceptibility to, X-linked 3 -WARN duplicate_label_synonym https://omim.org/entry/300497 oboInOwl:hasExactSynonym asperger syndrome, x-linked, susceptibility to, 2 WARN duplicate_label_synonym https://omim.org/entry/300498 oboInOwl:hasExactSynonym intellectual developmental disorder, X-linked 45 WARN duplicate_label_synonym https://omim.org/entry/300499 oboInOwl:hasExactSynonym FTSJ1 WARN duplicate_label_synonym https://omim.org/entry/300500 oboInOwl:hasExactSynonym albinism, ocular, iia 1 @@ -73095,7 +72872,6 @@ WARN duplicate_label_synonym https://omim.org/entry/300896 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/300897 oboInOwl:hasExactSynonym ZC4H2 WARN duplicate_label_synonym https://omim.org/entry/300898 oboInOwl:hasExactSynonym CDR1AS WARN duplicate_label_synonym https://omim.org/entry/300899 oboInOwl:hasExactSynonym RPL39 -WARN duplicate_label_synonym https://omim.org/entry/300900 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/300901 oboInOwl:hasExactSynonym XACT WARN duplicate_label_synonym https://omim.org/entry/300902 oboInOwl:hasExactSynonym RPL36A WARN duplicate_label_synonym https://omim.org/entry/300903 oboInOwl:hasExactSynonym GPR174 @@ -73291,6 +73067,10 @@ WARN duplicate_label_synonym https://omim.org/entry/301094 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/301095 oboInOwl:hasExactSynonym intellectual developmental disorder, X-linked 110 WARN duplicate_label_synonym https://omim.org/entry/301096 oboInOwl:hasExactSynonym CSAG2 WARN duplicate_label_synonym https://omim.org/entry/301097 oboInOwl:hasExactSynonym CSAG3 +WARN duplicate_label_synonym https://omim.org/entry/301098 oboInOwl:hasExactSynonym MMGT1 +WARN duplicate_label_synonym https://omim.org/entry/301099 oboInOwl:hasExactSynonym spermatogenic failure, x-linked, 5 +WARN duplicate_label_synonym https://omim.org/entry/301101 oboInOwl:hasExactSynonym spermatogenic failure, x-linked, 6 +WARN duplicate_label_synonym https://omim.org/entry/301102 oboInOwl:hasExactSynonym TMEM31 WARN duplicate_label_synonym https://omim.org/entry/301200 oboInOwl:hasExactSynonym amelogenesis imperfecta, iia 1e WARN duplicate_label_synonym https://omim.org/entry/301201 oboInOwl:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 WARN duplicate_label_synonym https://omim.org/entry/301220 oboInOwl:hasExactSynonym pigmentary disorder, reticulate, with systemic manifestations, X-linked @@ -73310,7 +73090,6 @@ WARN duplicate_label_synonym https://omim.org/entry/301840 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/301845 oboInOwl:hasExactSynonym bazex syndrome WARN duplicate_label_synonym https://omim.org/entry/301850 oboInOwl:hasExactSynonym tubulin, beta WARN duplicate_label_synonym https://omim.org/entry/301870 oboInOwl:hasExactSynonym BGN -WARN duplicate_label_synonym https://omim.org/entry/301880 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/301900 oboInOwl:hasExactSynonym borjeson-forssman-lehmann syndrome WARN duplicate_label_synonym https://omim.org/entry/301940 oboInOwl:hasExactSynonym brachydactyly, mononen iia WARN duplicate_label_synonym https://omim.org/entry/301950 oboInOwl:hasExactSynonym branchial arch syndrome, X-linked @@ -73366,7 +73145,6 @@ WARN duplicate_label_synonym https://omim.org/entry/304790 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/304800 oboInOwl:hasExactSynonym diabetes insipidus, nephrogenic, 1, X-linked WARN duplicate_label_synonym https://omim.org/entry/304900 oboInOwl:hasExactSynonym diabetes insipidus, neurohypophyseal, X-linked WARN duplicate_label_synonym https://omim.org/entry/304950 oboInOwl:hasExactSynonym dyggve-melchior-clausen syndrome, X-linked -WARN duplicate_label_synonym https://omim.org/entry/304990 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/305000 oboInOwl:hasExactSynonym dyskeratosis congenita, X-linked WARN duplicate_label_synonym https://omim.org/entry/305100 oboInOwl:hasExactSynonym ectodermal dysplasia 1, hypohidrotic, X-linked WARN duplicate_label_synonym https://omim.org/entry/305350 oboInOwl:hasExactSynonym epidermodysplasia verruciformis, X-linked @@ -73382,7 +73160,6 @@ WARN duplicate_label_synonym https://omim.org/entry/305450 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/305550 oboInOwl:hasExactSynonym fingerprint body myopathy WARN duplicate_label_synonym https://omim.org/entry/305600 oboInOwl:hasExactSynonym focal dermal hypoplasia WARN duplicate_label_synonym https://omim.org/entry/305620 oboInOwl:hasExactSynonym frontometaphyseal dysplasia 1 -WARN duplicate_label_synonym https://omim.org/entry/305650 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/305660 oboInOwl:hasExactSynonym GABRA3 WARN duplicate_label_synonym https://omim.org/entry/305670 oboInOwl:hasExactSynonym GRPR WARN duplicate_label_synonym https://omim.org/entry/305690 oboInOwl:hasExactSynonym genitourinary tract anomalies @@ -73397,7 +73174,6 @@ WARN duplicate_label_synonym https://omim.org/entry/306250 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/306300 oboInOwl:hasExactSynonym granulomas, congenital cerebral WARN duplicate_label_synonym https://omim.org/entry/306400 oboInOwl:hasExactSynonym granulomatous disease, chronic, X-linked WARN duplicate_label_synonym https://omim.org/entry/306480 oboInOwl:hasExactSynonym HDHD1A -WARN duplicate_label_synonym https://omim.org/entry/306600 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/306700 oboInOwl:hasExactSynonym hemophilia a WARN duplicate_label_synonym https://omim.org/entry/306800 oboInOwl:hasExactSynonym hemophilia a with vascular abnormality WARN duplicate_label_synonym https://omim.org/entry/306900 oboInOwl:hasExactSynonym hemophilia B @@ -73422,7 +73198,6 @@ WARN duplicate_label_synonym https://omim.org/entry/308050 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/308100 oboInOwl:hasExactSynonym ichthyosis, X-linked WARN duplicate_label_synonym https://omim.org/entry/308200 oboInOwl:hasExactSynonym ichthyosis and male hypogonadism WARN duplicate_label_synonym https://omim.org/entry/308205 oboInOwl:hasExactSynonym ifap syndrome 1, with or without bresheck syndrome -WARN duplicate_label_synonym https://omim.org/entry/308210 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/308220 oboInOwl:hasExactSynonym immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein WARN duplicate_label_synonym https://omim.org/entry/308230 oboInOwl:hasExactSynonym immunodeficiency with hyper-igm, iia 1 WARN duplicate_label_synonym https://omim.org/entry/308240 oboInOwl:hasExactSynonym lymphoproliferative syndrome, x-linked, 1 @@ -73433,7 +73208,6 @@ WARN duplicate_label_synonym https://omim.org/entry/308300 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/308350 oboInOwl:hasExactSynonym developmental and epileptic encephalopathy 1 WARN duplicate_label_synonym https://omim.org/entry/308380 oboInOwl:hasExactSynonym IL2RG WARN duplicate_label_synonym https://omim.org/entry/308385 oboInOwl:hasExactSynonym IL3RA -WARN duplicate_label_synonym https://omim.org/entry/308400 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/308500 oboInOwl:hasExactSynonym iris hypoplasia with glaucoma WARN duplicate_label_synonym https://omim.org/entry/308600 oboInOwl:hasExactSynonym jaundice, familial obstructive, of infancy WARN duplicate_label_synonym https://omim.org/entry/308700 oboInOwl:hasExactSynonym hypogonadotropic hypogonadism 1 with or without anosmia @@ -73507,7 +73281,7 @@ WARN duplicate_label_synonym https://omim.org/entry/310800 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/310900 oboInOwl:hasExactSynonym occipital hair, white lock of WARN duplicate_label_synonym https://omim.org/entry/310980 oboInOwl:hasExactSynonym omphalocele, X-linked WARN duplicate_label_synonym https://omim.org/entry/311000 oboInOwl:hasExactSynonym ophthalmoplegia, external, and myopia -WARN duplicate_label_synonym https://omim.org/entry/311010 oboInOwl:hasExactSynonym ARAF1 +WARN duplicate_label_synonym https://omim.org/entry/311010 oboInOwl:hasExactSynonym ARAF WARN duplicate_label_synonym https://omim.org/entry/311030 oboInOwl:hasExactSynonym MCF2 WARN duplicate_label_synonym https://omim.org/entry/311040 oboInOwl:hasExactSynonym ELK1 WARN duplicate_label_synonym https://omim.org/entry/311050 oboInOwl:hasExactSynonym optic atrophy 2 @@ -73523,7 +73297,6 @@ WARN duplicate_label_synonym https://omim.org/entry/311400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/311450 oboInOwl:hasExactSynonym pallister w syndrome WARN duplicate_label_synonym https://omim.org/entry/311510 oboInOwl:hasExactSynonym waisman syndrome WARN duplicate_label_synonym https://omim.org/entry/311550 oboInOwl:hasExactSynonym CDK16 -WARN duplicate_label_synonym https://omim.org/entry/311700 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/311770 oboInOwl:hasExactSynonym PIGA WARN duplicate_label_synonym https://omim.org/entry/311790 oboInOwl:hasExactSynonym PFKFB1 WARN duplicate_label_synonym https://omim.org/entry/311800 oboInOwl:hasExactSynonym PGK1 @@ -73533,7 +73306,6 @@ WARN duplicate_label_synonym https://omim.org/entry/311870 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/311895 oboInOwl:hasExactSynonym pierre robin sequence with facial and digital anomalies WARN duplicate_label_synonym https://omim.org/entry/311900 oboInOwl:hasExactSynonym tarp syndrome WARN duplicate_label_synonym https://omim.org/entry/312000 oboInOwl:hasExactSynonym panhypopituitarism, X-linked -WARN duplicate_label_synonym https://omim.org/entry/312030 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/312040 oboInOwl:hasExactSynonym POLA1 WARN duplicate_label_synonym https://omim.org/entry/312060 oboInOwl:hasExactSynonym properdin deficiency, X-linked WARN duplicate_label_synonym https://omim.org/entry/312070 oboInOwl:hasExactSynonym UBL4A @@ -73550,7 +73322,6 @@ WARN duplicate_label_synonym https://omim.org/entry/312210 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/312300 oboInOwl:hasExactSynonym androgen insensitivity, partial WARN duplicate_label_synonym https://omim.org/entry/312420 oboInOwl:hasExactSynonym RENBP WARN duplicate_label_synonym https://omim.org/entry/312500 oboInOwl:hasExactSynonym reticuloendotheliosis, X-linked -WARN duplicate_label_synonym https://omim.org/entry/312530 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/312550 oboInOwl:hasExactSynonym retinal dysplasia, primary WARN duplicate_label_synonym https://omim.org/entry/312600 oboInOwl:hasExactSynonym retinitis pigmentosa 2 WARN duplicate_label_synonym https://omim.org/entry/312610 oboInOwl:hasExactSynonym RPGR @@ -73576,14 +73347,11 @@ WARN duplicate_label_synonym https://omim.org/entry/313400 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/313420 oboInOwl:hasExactSynonym spondylometaphyseal dysplasia, X-linked WARN duplicate_label_synonym https://omim.org/entry/313430 oboInOwl:hasExactSynonym SOX3 WARN duplicate_label_synonym https://omim.org/entry/313440 oboInOwl:hasExactSynonym SYN1 -WARN duplicate_label_synonym https://omim.org/entry/313450 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/313460 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/313470 oboInOwl:hasExactSynonym CD99 WARN duplicate_label_synonym https://omim.org/entry/313475 oboInOwl:hasExactSynonym SYP WARN duplicate_label_synonym https://omim.org/entry/313480 oboInOwl:hasExactSynonym taqi polymorphism WARN duplicate_label_synonym https://omim.org/entry/313490 oboInOwl:hasExactSynonym taurodontism, microdontia, and dens invaginatus WARN duplicate_label_synonym https://omim.org/entry/313500 oboInOwl:hasExactSynonym tooth agenesis, selective, x-linked, 1 -WARN duplicate_label_synonym https://omim.org/entry/313550 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/313650 oboInOwl:hasExactSynonym TAF1 WARN duplicate_label_synonym https://omim.org/entry/313700 oboInOwl:hasExactSynonym AR WARN duplicate_label_synonym https://omim.org/entry/313850 oboInOwl:hasExactSynonym thoracoabdominal syndrome @@ -73597,7 +73365,6 @@ WARN duplicate_label_synonym https://omim.org/entry/314250 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/314300 oboInOwl:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia WARN duplicate_label_synonym https://omim.org/entry/314310 oboInOwl:hasExactSynonym TFE3 WARN duplicate_label_synonym https://omim.org/entry/314320 oboInOwl:hasExactSynonym trigonocephaly with short stature and developmental delay -WARN duplicate_label_synonym https://omim.org/entry/314350 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/314360 oboInOwl:hasExactSynonym ulnar hypoplasia with lobster-claw deformity of feet WARN duplicate_label_synonym https://omim.org/entry/314370 oboInOwl:hasExactSynonym UBA1 WARN duplicate_label_synonym https://omim.org/entry/314375 oboInOwl:hasExactSynonym SLC35A2 @@ -73617,16 +73384,12 @@ WARN duplicate_label_synonym https://omim.org/entry/314705 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/314800 oboInOwl:hasExactSynonym xh antigen WARN duplicate_label_synonym https://omim.org/entry/314850 oboInOwl:hasExactSynonym XK WARN duplicate_label_synonym https://omim.org/entry/314900 oboInOwl:hasExactSynonym xm system -WARN duplicate_label_synonym https://omim.org/entry/314920 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/314940 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/314960 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/314980 oboInOwl:hasExactSynonym ZFX WARN duplicate_label_synonym https://omim.org/entry/314990 oboInOwl:hasExactSynonym ZNF711 WARN duplicate_label_synonym https://omim.org/entry/314993 oboInOwl:hasExactSynonym ZNF182 WARN duplicate_label_synonym https://omim.org/entry/314995 oboInOwl:hasExactSynonym ZNF41 WARN duplicate_label_synonym https://omim.org/entry/314997 oboInOwl:hasExactSynonym ZNF75D WARN duplicate_label_synonym https://omim.org/entry/314998 oboInOwl:hasExactSynonym ZNF81 -WARN duplicate_label_synonym https://omim.org/entry/400000 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/400003 oboInOwl:hasExactSynonym DAZ1 WARN duplicate_label_synonym https://omim.org/entry/400004 oboInOwl:hasExactSynonym retinitis pigmentosa, Y-linked WARN duplicate_label_synonym https://omim.org/entry/400005 oboInOwl:hasExactSynonym USP9Y @@ -73676,7 +73439,6 @@ WARN duplicate_label_synonym https://omim.org/entry/402500 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/403000 oboInOwl:hasExactSynonym SLC25A6 WARN duplicate_label_synonym https://omim.org/entry/410000 oboInOwl:hasExactSynonym AMELY WARN duplicate_label_synonym https://omim.org/entry/415000 oboInOwl:hasExactSynonym spermatogenic failure, y-linked, 2 -WARN duplicate_label_synonym https://omim.org/entry/424000 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/424500 oboInOwl:hasExactSynonym gonadoblastoma WARN duplicate_label_synonym https://omim.org/entry/425000 oboInOwl:hasExactSynonym CSF2RY WARN duplicate_label_synonym https://omim.org/entry/425500 oboInOwl:hasExactSynonym hairy ears, Y-linked @@ -73708,7 +73470,6 @@ WARN duplicate_label_synonym https://omim.org/entry/500014 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/500015 oboInOwl:hasExactSynonym mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 1 WARN duplicate_label_synonym https://omim.org/entry/502000 oboInOwl:hasExactSynonym aging WARN duplicate_label_synonym https://omim.org/entry/502500 oboInOwl:hasExactSynonym alzheimer disease, susceptibility to, mitochondrial -WARN duplicate_label_synonym https://omim.org/entry/510000 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/515000 oboInOwl:hasExactSynonym chloramphenicol toxicity WARN duplicate_label_synonym https://omim.org/entry/516000 oboInOwl:hasExactSynonym MTND1 WARN duplicate_label_synonym https://omim.org/entry/516001 oboInOwl:hasExactSynonym MTND2 @@ -73973,7 +73734,6 @@ WARN duplicate_label_synonym https://omim.org/entry/600253 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/600257 oboInOwl:hasExactSynonym chromosome 8q12.1-q21.2 deletion syndrome WARN duplicate_label_synonym https://omim.org/entry/600258 oboInOwl:hasExactSynonym PMS1 WARN duplicate_label_synonym https://omim.org/entry/600259 oboInOwl:hasExactSynonym PMS2 -WARN duplicate_label_synonym https://omim.org/entry/600261 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/600262 oboInOwl:hasExactSynonym PTGS2 WARN duplicate_label_synonym https://omim.org/entry/600263 oboInOwl:hasExactSynonym helicobacter pylori infection, susceptibility to WARN duplicate_label_synonym https://omim.org/entry/600264 oboInOwl:hasExactSynonym AVPR1B @@ -74018,7 +73778,6 @@ WARN duplicate_label_synonym https://omim.org/entry/600305 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/600306 oboInOwl:hasExactSynonym PSMB5 WARN duplicate_label_synonym https://omim.org/entry/600307 oboInOwl:hasExactSynonym PSMB6 WARN duplicate_label_synonym https://omim.org/entry/600308 oboInOwl:hasExactSynonym AQP4 -WARN duplicate_label_synonym https://omim.org/entry/600309 oboInOwl:hasExactSynonym atrioventricular septal defect 3 WARN duplicate_label_synonym https://omim.org/entry/600310 oboInOwl:hasExactSynonym COMP WARN duplicate_label_synonym https://omim.org/entry/600311 oboInOwl:hasExactSynonym GZMM WARN duplicate_label_synonym https://omim.org/entry/600312 oboInOwl:hasExactSynonym NUDT1 @@ -74186,7 +73945,6 @@ WARN duplicate_label_synonym https://omim.org/entry/600494 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/600495 oboInOwl:hasExactSynonym EIF4G1 WARN duplicate_label_synonym https://omim.org/entry/600496 oboInOwl:hasExactSynonym maturity-onset diabetes of the young, iia 3 WARN duplicate_label_synonym https://omim.org/entry/600497 oboInOwl:hasExactSynonym PRKAA2 -WARN duplicate_label_synonym https://omim.org/entry/600499 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/600501 oboInOwl:hasExactSynonym abcd syndrome WARN duplicate_label_synonym https://omim.org/entry/600502 oboInOwl:hasExactSynonym IGHMBP2 WARN duplicate_label_synonym https://omim.org/entry/600503 oboInOwl:hasExactSynonym SUB1 @@ -74282,7 +74040,6 @@ WARN duplicate_label_synonym https://omim.org/entry/600598 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/600599 oboInOwl:hasExactSynonym KLF1 WARN duplicate_label_synonym https://omim.org/entry/600600 oboInOwl:hasExactSynonym EPHB1 WARN duplicate_label_synonym https://omim.org/entry/600605 oboInOwl:hasExactSynonym MTX1 -WARN duplicate_label_synonym https://omim.org/entry/600606 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/600607 oboInOwl:hasExactSynonym VPS72 WARN duplicate_label_synonym https://omim.org/entry/600608 oboInOwl:hasExactSynonym P4HA2 WARN duplicate_label_synonym https://omim.org/entry/600609 oboInOwl:hasExactSynonym GABPA @@ -74624,7 +74381,6 @@ WARN duplicate_label_synonym https://omim.org/entry/600991 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/600993 oboInOwl:hasExactSynonym SMAD4 WARN duplicate_label_synonym https://omim.org/entry/600994 oboInOwl:hasExactSynonym deafness, autosomal dominant 5 WARN duplicate_label_synonym https://omim.org/entry/600995 oboInOwl:hasExactSynonym nephrotic syndrome, iia 2 -WARN duplicate_label_synonym https://omim.org/entry/600996 oboInOwl:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, 2 WARN duplicate_label_synonym https://omim.org/entry/600997 oboInOwl:hasExactSynonym EPHB2 WARN duplicate_label_synonym https://omim.org/entry/600998 oboInOwl:hasExactSynonym GNAQ WARN duplicate_label_synonym https://omim.org/entry/600999 oboInOwl:hasExactSynonym MAZ @@ -74669,7 +74425,6 @@ WARN duplicate_label_synonym https://omim.org/entry/601045 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/601046 oboInOwl:hasExactSynonym MMP12 WARN duplicate_label_synonym https://omim.org/entry/601047 oboInOwl:hasExactSynonym CAV1 WARN duplicate_label_synonym https://omim.org/entry/601048 oboInOwl:hasExactSynonym CAV2 -WARN duplicate_label_synonym https://omim.org/entry/601050 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/601051 oboInOwl:hasExactSynonym MSLN WARN duplicate_label_synonym https://omim.org/entry/601052 oboInOwl:hasExactSynonym PIN1 WARN duplicate_label_synonym https://omim.org/entry/601053 oboInOwl:hasExactSynonym PLXNB1 @@ -74720,7 +74475,6 @@ WARN duplicate_label_synonym https://omim.org/entry/601102 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/601103 oboInOwl:hasExactSynonym MFAP5 WARN duplicate_label_synonym https://omim.org/entry/601104 oboInOwl:hasExactSynonym supranuclear palsy, progressive, 1 WARN duplicate_label_synonym https://omim.org/entry/601105 oboInOwl:hasExactSynonym CTSK -WARN duplicate_label_synonym https://omim.org/entry/601106 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/601107 oboInOwl:hasExactSynonym ABCC2 WARN duplicate_label_synonym https://omim.org/entry/601109 oboInOwl:hasExactSynonym HTR6 WARN duplicate_label_synonym https://omim.org/entry/601110 oboInOwl:hasExactSynonym congenital disorder of glycosylation, iia id @@ -74779,7 +74533,6 @@ WARN duplicate_label_synonym https://omim.org/entry/601165 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/601166 oboInOwl:hasExactSynonym GPR15 WARN duplicate_label_synonym https://omim.org/entry/601167 oboInOwl:hasExactSynonym P2RY1 WARN duplicate_label_synonym https://omim.org/entry/601168 oboInOwl:hasExactSynonym DPYSL3 -WARN duplicate_label_synonym https://omim.org/entry/601169 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/601170 oboInOwl:hasExactSynonym muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers WARN duplicate_label_synonym https://omim.org/entry/601172 oboInOwl:hasExactSynonym CSPG4 WARN duplicate_label_synonym https://omim.org/entry/601175 oboInOwl:hasExactSynonym ARL2 @@ -74892,7 +74645,6 @@ WARN duplicate_label_synonym https://omim.org/entry/601290 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/601291 oboInOwl:hasExactSynonym UGT8 WARN duplicate_label_synonym https://omim.org/entry/601292 oboInOwl:hasExactSynonym SULT1A2 WARN duplicate_label_synonym https://omim.org/entry/601293 oboInOwl:hasExactSynonym RHEB -WARN duplicate_label_synonym https://omim.org/entry/601294 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/601295 oboInOwl:hasExactSynonym SLC10A2 WARN duplicate_label_synonym https://omim.org/entry/601296 oboInOwl:hasExactSynonym MUSK WARN duplicate_label_synonym https://omim.org/entry/601297 oboInOwl:hasExactSynonym SOX15 @@ -75573,7 +75325,6 @@ WARN duplicate_label_synonym https://omim.org/entry/602024 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/602025 oboInOwl:hasExactSynonym body mass index quantitative trait locus 9 WARN duplicate_label_synonym https://omim.org/entry/602026 oboInOwl:hasExactSynonym PHYH WARN duplicate_label_synonym https://omim.org/entry/602027 oboInOwl:hasExactSynonym TERF2 -WARN duplicate_label_synonym https://omim.org/entry/602029 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/602030 oboInOwl:hasExactSynonym FUT7 WARN duplicate_label_synonym https://omim.org/entry/602031 oboInOwl:hasExactSynonym PGGT1B WARN duplicate_label_synonym https://omim.org/entry/602032 oboInOwl:hasExactSynonym ectodermal dysplasia 4, hair/nail iia @@ -75684,7 +75435,6 @@ WARN duplicate_label_synonym https://omim.org/entry/602143 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/602144 oboInOwl:hasExactSynonym BRDT WARN duplicate_label_synonym https://omim.org/entry/602145 oboInOwl:hasExactSynonym PA2G4 WARN duplicate_label_synonym https://omim.org/entry/602146 oboInOwl:hasExactSynonym LHX4 -WARN duplicate_label_synonym https://omim.org/entry/602147 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/602148 oboInOwl:hasExactSynonym SOX1 WARN duplicate_label_synonym https://omim.org/entry/602149 oboInOwl:hasExactSynonym PITX1 WARN duplicate_label_synonym https://omim.org/entry/602150 oboInOwl:hasExactSynonym SNAI2 @@ -75974,7 +75724,6 @@ WARN duplicate_label_synonym https://omim.org/entry/602451 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/602452 oboInOwl:hasExactSynonym BUB1 WARN duplicate_label_synonym https://omim.org/entry/602453 oboInOwl:hasExactSynonym ITGAD WARN duplicate_label_synonym https://omim.org/entry/602454 oboInOwl:hasExactSynonym PTPRU -WARN duplicate_label_synonym https://omim.org/entry/602456 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/602457 oboInOwl:hasExactSynonym FADD WARN duplicate_label_synonym https://omim.org/entry/602458 oboInOwl:hasExactSynonym SORT1 WARN duplicate_label_synonym https://omim.org/entry/602459 oboInOwl:hasExactSynonym deafness, autosomal dominant 15 @@ -76263,7 +76012,7 @@ WARN duplicate_label_synonym https://omim.org/entry/602754 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/602755 oboInOwl:hasExactSynonym CCNB2 WARN duplicate_label_synonym https://omim.org/entry/602756 oboInOwl:hasExactSynonym EFNA2 WARN duplicate_label_synonym https://omim.org/entry/602757 oboInOwl:hasExactSynonym EPHB6 -WARN duplicate_label_synonym https://omim.org/entry/602758 oboInOwl:hasExactSynonym PIK4CB +WARN duplicate_label_synonym https://omim.org/entry/602758 oboInOwl:hasExactSynonym PI4KB WARN duplicate_label_synonym https://omim.org/entry/602759 oboInOwl:hasExactSynonym prostate cancer, hereditary, 8 WARN duplicate_label_synonym https://omim.org/entry/602760 oboInOwl:hasExactSynonym KRT32 WARN duplicate_label_synonym https://omim.org/entry/602761 oboInOwl:hasExactSynonym KRT33A @@ -76276,7 +76025,7 @@ WARN duplicate_label_synonym https://omim.org/entry/602767 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/602768 oboInOwl:hasExactSynonym DLL3 WARN duplicate_label_synonym https://omim.org/entry/602769 oboInOwl:hasExactSynonym DNMT3A WARN duplicate_label_synonym https://omim.org/entry/602770 oboInOwl:hasExactSynonym CBX2 -WARN duplicate_label_synonym https://omim.org/entry/602771 oboInOwl:hasExactSynonym rigid spine muscular dystrophy 1 +WARN duplicate_label_synonym https://omim.org/entry/602771 oboInOwl:hasExactSynonym congenital myopathy 3 with rigid spine WARN duplicate_label_synonym https://omim.org/entry/602772 oboInOwl:hasExactSynonym retinitis pigmentosa 25 WARN duplicate_label_synonym https://omim.org/entry/602773 oboInOwl:hasExactSynonym SLC49A4 WARN duplicate_label_synonym https://omim.org/entry/602774 oboInOwl:hasExactSynonym RAD51C @@ -77119,7 +76868,6 @@ WARN duplicate_label_synonym https://omim.org/entry/603649 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/603650 oboInOwl:hasExactSynonym BBS5 WARN duplicate_label_synonym https://omim.org/entry/603651 oboInOwl:hasExactSynonym TRPC4 WARN duplicate_label_synonym https://omim.org/entry/603652 oboInOwl:hasExactSynonym TRPC6 -WARN duplicate_label_synonym https://omim.org/entry/603653 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/603654 oboInOwl:hasExactSynonym SLC16A7 WARN duplicate_label_synonym https://omim.org/entry/603656 oboInOwl:hasExactSynonym exostosis, dupuytren subungual WARN duplicate_label_synonym https://omim.org/entry/603657 oboInOwl:hasExactSynonym VAMP3 @@ -77252,7 +77000,6 @@ WARN duplicate_label_synonym https://omim.org/entry/603787 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/603788 oboInOwl:hasExactSynonym KCNG1 WARN duplicate_label_synonym https://omim.org/entry/603790 oboInOwl:hasExactSynonym SLC23A1 WARN duplicate_label_synonym https://omim.org/entry/603791 oboInOwl:hasExactSynonym SLC23A2 -WARN duplicate_label_synonym https://omim.org/entry/603793 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/603794 oboInOwl:hasExactSynonym hydroa vacciniforme, familial WARN duplicate_label_synonym https://omim.org/entry/603795 oboInOwl:hasExactSynonym LITAF WARN duplicate_label_synonym https://omim.org/entry/603796 oboInOwl:hasExactSynonym KCNE2 @@ -77440,11 +77187,9 @@ WARN duplicate_label_synonym https://omim.org/entry/603982 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/603983 oboInOwl:hasExactSynonym ZNF101 WARN duplicate_label_synonym https://omim.org/entry/603984 oboInOwl:hasExactSynonym ZNF737 WARN duplicate_label_synonym https://omim.org/entry/603985 oboInOwl:hasExactSynonym zinc finger protein 103 -WARN duplicate_label_synonym https://omim.org/entry/603986 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/603987 oboInOwl:hasExactSynonym zinc finger protein 105 WARN duplicate_label_synonym https://omim.org/entry/603988 oboInOwl:hasExactSynonym zinc finger protein 106 WARN duplicate_label_synonym https://omim.org/entry/603989 oboInOwl:hasExactSynonym ZNF107 -WARN duplicate_label_synonym https://omim.org/entry/603990 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/603991 oboInOwl:hasExactSynonym zinc finger protein 109 WARN duplicate_label_synonym https://omim.org/entry/603992 oboInOwl:hasExactSynonym zinc finger protein 110 WARN duplicate_label_synonym https://omim.org/entry/603993 oboInOwl:hasExactSynonym zinc finger protein 111 @@ -77459,8 +77204,6 @@ WARN duplicate_label_synonym https://omim.org/entry/604001 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/604002 oboInOwl:hasExactSynonym ROCK2 WARN duplicate_label_synonym https://omim.org/entry/604003 oboInOwl:hasExactSynonym CLCA2 WARN duplicate_label_synonym https://omim.org/entry/604004 oboInOwl:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts 1 -WARN duplicate_label_synonym https://omim.org/entry/604006 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604007 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/604008 oboInOwl:hasExactSynonym PTPRZ2 WARN duplicate_label_synonym https://omim.org/entry/604009 oboInOwl:hasExactSynonym BAIAP3 WARN duplicate_label_synonym https://omim.org/entry/604010 oboInOwl:hasExactSynonym PNMA1 @@ -77771,12 +77514,6 @@ WARN duplicate_label_synonym https://omim.org/entry/604334 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/604335 oboInOwl:hasExactSynonym reflex sympathetic dystrophy WARN duplicate_label_synonym https://omim.org/entry/604336 oboInOwl:hasExactSynonym TPTE WARN duplicate_label_synonym https://omim.org/entry/604337 oboInOwl:hasExactSynonym CLCA3P -WARN duplicate_label_synonym https://omim.org/entry/604338 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604339 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604340 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604341 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604342 oboInOwl:hasExactSynonym removed from database -WARN duplicate_label_synonym https://omim.org/entry/604343 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/604344 oboInOwl:hasExactSynonym MAN1A1 WARN duplicate_label_synonym https://omim.org/entry/604345 oboInOwl:hasExactSynonym MAN1A2 WARN duplicate_label_synonym https://omim.org/entry/604346 oboInOwl:hasExactSynonym MAN1B1 @@ -78573,7 +78310,6 @@ WARN duplicate_label_synonym https://omim.org/entry/605173 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/605174 oboInOwl:hasExactSynonym ADAMTS1 WARN duplicate_label_synonym https://omim.org/entry/605175 oboInOwl:hasExactSynonym ADAMTS8 WARN duplicate_label_synonym https://omim.org/entry/605176 oboInOwl:hasExactSynonym HAO2 -WARN duplicate_label_synonym https://omim.org/entry/605177 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/605178 oboInOwl:hasExactSynonym GAS8 WARN duplicate_label_synonym https://omim.org/entry/605179 oboInOwl:hasExactSynonym GAS8AS1 WARN duplicate_label_synonym https://omim.org/entry/605180 oboInOwl:hasExactSynonym SLC38A2 @@ -79013,7 +78749,7 @@ WARN duplicate_label_synonym https://omim.org/entry/605633 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/605634 oboInOwl:hasExactSynonym SLC35A1 WARN duplicate_label_synonym https://omim.org/entry/605635 oboInOwl:hasExactSynonym hyperaldosteronism, familial, iia 2 WARN duplicate_label_synonym https://omim.org/entry/605636 oboInOwl:hasExactSynonym MEG3 -WARN duplicate_label_synonym https://omim.org/entry/605637 oboInOwl:hasExactSynonym myopathy, proximal, with ophthalmoplegia +WARN duplicate_label_synonym https://omim.org/entry/605637 oboInOwl:hasExactSynonym congenital myopathy 6 with ophthalmoplegia WARN duplicate_label_synonym https://omim.org/entry/605638 oboInOwl:hasExactSynonym BIRC6 WARN duplicate_label_synonym https://omim.org/entry/605639 oboInOwl:hasExactSynonym SIGLEC8 WARN duplicate_label_synonym https://omim.org/entry/605640 oboInOwl:hasExactSynonym SIGLEC9 @@ -80258,7 +79994,7 @@ WARN duplicate_label_synonym https://omim.org/entry/606918 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/606919 oboInOwl:hasExactSynonym CERS1 WARN duplicate_label_synonym https://omim.org/entry/606920 oboInOwl:hasExactSynonym CERS2 WARN duplicate_label_synonym https://omim.org/entry/606921 oboInOwl:hasExactSynonym GPR78 -WARN duplicate_label_synonym https://omim.org/entry/606922 oboInOwl:hasExactSynonym GPR80 +WARN duplicate_label_synonym https://omim.org/entry/606922 oboInOwl:hasExactSynonym OXGR1 WARN duplicate_label_synonym https://omim.org/entry/606923 oboInOwl:hasExactSynonym HCAR1 WARN duplicate_label_synonym https://omim.org/entry/606925 oboInOwl:hasExactSynonym QRFPR WARN duplicate_label_synonym https://omim.org/entry/606926 oboInOwl:hasExactSynonym LPAR5 @@ -81597,7 +81333,6 @@ WARN duplicate_label_synonym https://omim.org/entry/608293 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/608294 oboInOwl:hasExactSynonym NME6 WARN duplicate_label_synonym https://omim.org/entry/608295 oboInOwl:hasExactSynonym FAM107A WARN duplicate_label_synonym https://omim.org/entry/608296 oboInOwl:hasExactSynonym FIBP -WARN duplicate_label_synonym https://omim.org/entry/608297 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/608298 oboInOwl:hasExactSynonym CCDS80 WARN duplicate_label_synonym https://omim.org/entry/608299 oboInOwl:hasExactSynonym RNF34 WARN duplicate_label_synonym https://omim.org/entry/608300 oboInOwl:hasExactSynonym NAGS @@ -81655,7 +81390,7 @@ WARN duplicate_label_synonym https://omim.org/entry/608353 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/608354 oboInOwl:hasExactSynonym capillary malformation-arteriovenous malformation 1 WARN duplicate_label_synonym https://omim.org/entry/608356 oboInOwl:hasExactSynonym ODF3 WARN duplicate_label_synonym https://omim.org/entry/608357 oboInOwl:hasExactSynonym SULT1C4 -WARN duplicate_label_synonym https://omim.org/entry/608358 oboInOwl:hasExactSynonym myopathy, myosin storage, autosomal dominant +WARN duplicate_label_synonym https://omim.org/entry/608358 oboInOwl:hasExactSynonym congenital myopathy 7a, myosin storage, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/608359 oboInOwl:hasExactSynonym SULT4A1 WARN duplicate_label_synonym https://omim.org/entry/608360 oboInOwl:hasExactSynonym LRRC8A WARN duplicate_label_synonym https://omim.org/entry/608361 oboInOwl:hasExactSynonym spondyloepiphyseal dysplasia, kimberley iia @@ -82113,7 +81848,7 @@ WARN duplicate_label_synonym https://omim.org/entry/608824 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/608825 oboInOwl:hasExactSynonym CGB5 WARN duplicate_label_synonym https://omim.org/entry/608826 oboInOwl:hasExactSynonym CGB7 WARN duplicate_label_synonym https://omim.org/entry/608827 oboInOwl:hasExactSynonym CGB8 -WARN duplicate_label_synonym https://omim.org/entry/608828 oboInOwl:hasExactSynonym RNASEN +WARN duplicate_label_synonym https://omim.org/entry/608828 oboInOwl:hasExactSynonym DROSHA WARN duplicate_label_synonym https://omim.org/entry/608829 oboInOwl:hasExactSynonym SUMO4 WARN duplicate_label_synonym https://omim.org/entry/608830 oboInOwl:hasExactSynonym RDH12 WARN duplicate_label_synonym https://omim.org/entry/608831 oboInOwl:hasExactSynonym restless legs syndrome, susceptibility to, 2 @@ -82559,7 +82294,7 @@ WARN duplicate_label_synonym https://omim.org/entry/609280 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/609281 oboInOwl:hasExactSynonym MOB1A WARN duplicate_label_synonym https://omim.org/entry/609282 oboInOwl:hasExactSynonym MOB1B WARN duplicate_label_synonym https://omim.org/entry/609283 oboInOwl:hasExactSynonym progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 -WARN duplicate_label_synonym https://omim.org/entry/609284 oboInOwl:hasExactSynonym nemaline myopathy 1 +WARN duplicate_label_synonym https://omim.org/entry/609284 oboInOwl:hasExactSynonym congenital myopathy 4b, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/609285 oboInOwl:hasExactSynonym nemaline myopathy 4 WARN duplicate_label_synonym https://omim.org/entry/609286 oboInOwl:hasExactSynonym progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 WARN duplicate_label_synonym https://omim.org/entry/609287 oboInOwl:hasExactSynonym SH3GLB1 @@ -82728,7 +82463,6 @@ WARN duplicate_label_synonym https://omim.org/entry/609452 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/609453 oboInOwl:hasExactSynonym GOLGA7 WARN duplicate_label_synonym https://omim.org/entry/609454 oboInOwl:hasExactSynonym supranuclear palsy, progressive, 2 WARN duplicate_label_synonym https://omim.org/entry/609455 oboInOwl:hasExactSynonym PELP1 -WARN duplicate_label_synonym https://omim.org/entry/609456 oboInOwl:hasExactSynonym muscular dystrophy, congenital, merosin-positive WARN duplicate_label_synonym https://omim.org/entry/609457 oboInOwl:hasExactSynonym HAL WARN duplicate_label_synonym https://omim.org/entry/609458 oboInOwl:hasExactSynonym MAN2B1 WARN duplicate_label_synonym https://omim.org/entry/609459 oboInOwl:hasExactSynonym DGCR6L @@ -83094,7 +82828,6 @@ WARN duplicate_label_synonym https://omim.org/entry/609826 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/609827 oboInOwl:hasExactSynonym PELI3 WARN duplicate_label_synonym https://omim.org/entry/609828 oboInOwl:hasExactSynonym FSD1 WARN duplicate_label_synonym https://omim.org/entry/609829 oboInOwl:hasExactSynonym FSD1NL -WARN duplicate_label_synonym https://omim.org/entry/609830 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/609831 oboInOwl:hasExactSynonym MMACHC WARN duplicate_label_synonym https://omim.org/entry/609832 oboInOwl:hasExactSynonym SLC47A1 WARN duplicate_label_synonym https://omim.org/entry/609833 oboInOwl:hasExactSynonym SLC47A2 @@ -84939,7 +84672,7 @@ WARN duplicate_label_synonym https://omim.org/entry/611701 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/611702 oboInOwl:hasExactSynonym spondylometaphyseal dysplasia, east african iia WARN duplicate_label_synonym https://omim.org/entry/611703 oboInOwl:hasExactSynonym ZNF436 WARN duplicate_label_synonym https://omim.org/entry/611704 oboInOwl:hasExactSynonym TMPRSS11A -WARN duplicate_label_synonym https://omim.org/entry/611705 oboInOwl:hasExactSynonym salih myopathy +WARN duplicate_label_synonym https://omim.org/entry/611705 oboInOwl:hasExactSynonym congenital myopathy 5 with cardiomyopathy WARN duplicate_label_synonym https://omim.org/entry/611706 oboInOwl:hasExactSynonym migraine with or without aura, susceptibility to, 12 WARN duplicate_label_synonym https://omim.org/entry/611707 oboInOwl:hasExactSynonym MPZL3 WARN duplicate_label_synonym https://omim.org/entry/611708 oboInOwl:hasExactSynonym MIR431 @@ -85762,7 +85495,7 @@ WARN duplicate_label_synonym https://omim.org/entry/612536 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/612537 oboInOwl:hasExactSynonym THAP9 WARN duplicate_label_synonym https://omim.org/entry/612538 oboInOwl:hasExactSynonym THAP10 WARN duplicate_label_synonym https://omim.org/entry/612539 oboInOwl:hasExactSynonym spastic paraplegia 42, autosomal dominant -WARN duplicate_label_synonym https://omim.org/entry/612540 oboInOwl:hasExactSynonym myopathy, congenital, compton-north +WARN duplicate_label_synonym https://omim.org/entry/612540 oboInOwl:hasExactSynonym congenital myopathy 12 WARN duplicate_label_synonym https://omim.org/entry/612541 oboInOwl:hasExactSynonym neutropenia, severe congenital, 4, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/612542 oboInOwl:hasExactSynonym vitamin b12 plasma level quantitative trait locus 1 WARN duplicate_label_synonym https://omim.org/entry/612543 oboInOwl:hasExactSynonym USP36 @@ -86924,7 +86657,7 @@ WARN duplicate_label_synonym https://omim.org/entry/613710 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/613711 oboInOwl:hasExactSynonym hirschsprung disease, susceptibility to, 3 WARN duplicate_label_synonym https://omim.org/entry/613712 oboInOwl:hasExactSynonym hirschsprung disease, susceptibility to, 4 WARN duplicate_label_synonym https://omim.org/entry/613713 oboInOwl:hasExactSynonym PCID2 -WARN duplicate_label_synonym https://omim.org/entry/613714 oboInOwl:hasExactSynonym b7 homolog 6 +WARN duplicate_label_synonym https://omim.org/entry/613714 oboInOwl:hasExactSynonym NCR3LG1 WARN duplicate_label_synonym https://omim.org/entry/613715 oboInOwl:hasExactSynonym POLR1D WARN duplicate_label_synonym https://omim.org/entry/613716 oboInOwl:hasExactSynonym MIR661 WARN duplicate_label_synonym https://omim.org/entry/613717 oboInOwl:hasExactSynonym treacher collins syndrome 2 @@ -87593,7 +87326,7 @@ WARN duplicate_label_synonym https://omim.org/entry/614395 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/614396 oboInOwl:hasExactSynonym GPATCH8 WARN duplicate_label_synonym https://omim.org/entry/614397 oboInOwl:hasExactSynonym MFSD2A WARN duplicate_label_synonym https://omim.org/entry/614398 oboInOwl:hasExactSynonym JCAD -WARN duplicate_label_synonym https://omim.org/entry/614399 oboInOwl:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset +WARN duplicate_label_synonym https://omim.org/entry/614399 oboInOwl:hasExactSynonym congenital myopathy 10a, severe variant WARN duplicate_label_synonym https://omim.org/entry/614400 oboInOwl:hasExactSynonym glucocorticoid therapy, response to WARN duplicate_label_synonym https://omim.org/entry/614401 oboInOwl:hasExactSynonym accelerated tumor formation, susceptibility to WARN duplicate_label_synonym https://omim.org/entry/614402 oboInOwl:hasExactSynonym microphthalmia, syndromic 11 @@ -88582,7 +88315,7 @@ WARN duplicate_label_synonym https://omim.org/entry/615397 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/615398 oboInOwl:hasExactSynonym multiple congenital anomalies-hypotonia-seizures syndrome 3 WARN duplicate_label_synonym https://omim.org/entry/615399 oboInOwl:hasExactSynonym paroxysmal nocturnal hemoglobinuria 2 WARN duplicate_label_synonym https://omim.org/entry/615400 oboInOwl:hasExactSynonym epilepsy, familial adult myoclonic, 5 -WARN duplicate_label_synonym https://omim.org/entry/615401 oboInOwl:hasExactSynonym immunodeficiency 8 +WARN duplicate_label_synonym https://omim.org/entry/615401 oboInOwl:hasExactSynonym immunodeficiency 8 with lymphoproliferation WARN duplicate_label_synonym https://omim.org/entry/615402 oboInOwl:hasExactSynonym dyschromatosis universalis hereditaria 3 WARN duplicate_label_synonym https://omim.org/entry/615403 oboInOwl:hasExactSynonym THOC6 WARN duplicate_label_synonym https://omim.org/entry/615404 oboInOwl:hasExactSynonym TM4SF20 @@ -88694,7 +88427,7 @@ WARN duplicate_label_synonym https://omim.org/entry/615509 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/615510 oboInOwl:hasExactSynonym alacrima, achalasia, and impaired intellectual development syndrome WARN duplicate_label_synonym https://omim.org/entry/615511 oboInOwl:hasExactSynonym myopathy due to myoadenylate deaminase deficiency WARN duplicate_label_synonym https://omim.org/entry/615512 oboInOwl:hasExactSynonym triosephosphate isomerase deficiency -WARN duplicate_label_synonym https://omim.org/entry/615513 oboInOwl:hasExactSynonym immunodeficiency 14a, autosomal dominant +WARN duplicate_label_synonym https://omim.org/entry/615513 oboInOwl:hasExactSynonym immunodeficiency 14a with lymphoproliferation, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/615514 oboInOwl:hasExactSynonym CDK12 WARN duplicate_label_synonym https://omim.org/entry/615515 oboInOwl:hasExactSynonym amyotrophic lateral sclerosis 19 WARN duplicate_label_synonym https://omim.org/entry/615516 oboInOwl:hasExactSynonym intellectual developmental disorder, autosomal recessive 38 @@ -89151,7 +88884,6 @@ WARN duplicate_label_synonym https://omim.org/entry/615967 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/615968 oboInOwl:hasExactSynonym MYCNUT WARN duplicate_label_synonym https://omim.org/entry/615969 oboInOwl:hasExactSynonym alpha-fetoprotein deficiency WARN duplicate_label_synonym https://omim.org/entry/615970 oboInOwl:hasExactSynonym alpha-fetoprotein, hereditary persistence of -WARN duplicate_label_synonym https://omim.org/entry/615971 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/615972 oboInOwl:hasExactSynonym nanophthalmos 4 WARN duplicate_label_synonym https://omim.org/entry/615973 oboInOwl:hasExactSynonym cone-rod dystrophy 20 WARN duplicate_label_synonym https://omim.org/entry/615974 oboInOwl:hasExactSynonym deafness, autosomal recessive 102 @@ -89185,7 +88917,7 @@ WARN duplicate_label_synonym https://omim.org/entry/616001 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/616002 oboInOwl:hasExactSynonym focal segmental glomerulosclerosis 7 WARN duplicate_label_synonym https://omim.org/entry/616003 oboInOwl:hasExactSynonym APOPT1 WARN duplicate_label_synonym https://omim.org/entry/616004 oboInOwl:hasExactSynonym dysfibrinogenemia, congenital -WARN duplicate_label_synonym https://omim.org/entry/616005 oboInOwl:hasExactSynonym immunodeficiency 36 +WARN duplicate_label_synonym https://omim.org/entry/616005 oboInOwl:hasExactSynonym immunodeficiency 36 with lymphoproliferation WARN duplicate_label_synonym https://omim.org/entry/616006 oboInOwl:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome 2 WARN duplicate_label_synonym https://omim.org/entry/616007 oboInOwl:hasExactSynonym cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia WARN duplicate_label_synonym https://omim.org/entry/616008 oboInOwl:hasExactSynonym COPS4 @@ -89198,7 +88930,6 @@ WARN duplicate_label_synonym https://omim.org/entry/616014 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/616015 oboInOwl:hasExactSynonym RNF180 WARN duplicate_label_synonym https://omim.org/entry/616016 oboInOwl:hasExactSynonym PPM1H WARN duplicate_label_synonym https://omim.org/entry/616017 oboInOwl:hasExactSynonym TRIM69 -WARN duplicate_label_synonym https://omim.org/entry/616018 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/616019 oboInOwl:hasExactSynonym RCOR2 WARN duplicate_label_synonym https://omim.org/entry/616020 oboInOwl:hasExactSynonym CYYR1 WARN duplicate_label_synonym https://omim.org/entry/616021 oboInOwl:hasExactSynonym CYYR1AS1 @@ -90980,7 +90711,7 @@ WARN duplicate_label_synonym https://omim.org/entry/617800 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/617801 oboInOwl:hasExactSynonym CAP1 WARN duplicate_label_synonym https://omim.org/entry/617802 oboInOwl:hasExactSynonym neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy WARN duplicate_label_synonym https://omim.org/entry/617803 oboInOwl:hasExactSynonym TMEM26 -WARN duplicate_label_synonym https://omim.org/entry/617804 oboInOwl:hasExactSynonym neurodevelopmental disorder with severe motor impairment and absent language +WARN duplicate_label_synonym https://omim.org/entry/617804 oboInOwl:hasExactSynonym neurodevelopmental disorder with variable motor and language impairment WARN duplicate_label_synonym https://omim.org/entry/617805 oboInOwl:hasExactSynonym renal hypodysplasia/aplasia 3 WARN duplicate_label_synonym https://omim.org/entry/617806 oboInOwl:hasExactSynonym TMEM86B WARN duplicate_label_synonym https://omim.org/entry/617807 oboInOwl:hasExactSynonym neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter @@ -91589,7 +91320,7 @@ WARN duplicate_label_synonym https://omim.org/entry/618410 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618411 oboInOwl:hasExactSynonym FTSJ3 WARN duplicate_label_synonym https://omim.org/entry/618412 oboInOwl:hasExactSynonym global developmental delay, progressive ataxia, and elevated glutamine WARN duplicate_label_synonym https://omim.org/entry/618413 oboInOwl:hasExactSynonym FAM149B1 -WARN duplicate_label_synonym https://omim.org/entry/618414 oboInOwl:hasExactSynonym myopathy, congenital, with fast-twitch (type ii) fiber atrophy +WARN duplicate_label_synonym https://omim.org/entry/618414 oboInOwl:hasExactSynonym congenital myopathy 14 WARN duplicate_label_synonym https://omim.org/entry/618415 oboInOwl:hasExactSynonym cataract 48 WARN duplicate_label_synonym https://omim.org/entry/618416 oboInOwl:hasExactSynonym metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression WARN duplicate_label_synonym https://omim.org/entry/618417 oboInOwl:hasExactSynonym MEI4 @@ -91603,7 +91334,6 @@ WARN duplicate_label_synonym https://omim.org/entry/618424 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618425 oboInOwl:hasExactSynonym neurodevelopmental disorder with impaired speech and hyperkinetic movements WARN duplicate_label_synonym https://omim.org/entry/618426 oboInOwl:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, 9 WARN duplicate_label_synonym https://omim.org/entry/618427 oboInOwl:hasExactSynonym PACC1 -WARN duplicate_label_synonym https://omim.org/entry/618428 oboInOwl:hasExactSynonym removed from database WARN duplicate_label_synonym https://omim.org/entry/618429 oboInOwl:hasExactSynonym spermatogenic failure 37 WARN duplicate_label_synonym https://omim.org/entry/618430 oboInOwl:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities WARN duplicate_label_synonym https://omim.org/entry/618431 oboInOwl:hasExactSynonym hydatidiform mole, recurrent, 3 @@ -91699,7 +91429,7 @@ WARN duplicate_label_synonym https://omim.org/entry/618520 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618521 oboInOwl:hasExactSynonym ARMC8 WARN duplicate_label_synonym https://omim.org/entry/618522 oboInOwl:hasExactSynonym intellectual developmental disorder, autosomal dominant 59 WARN duplicate_label_synonym https://omim.org/entry/618523 oboInOwl:hasExactSynonym hyper-ige recurrent infection syndrome 4b, autosomal recessive -WARN duplicate_label_synonym https://omim.org/entry/618524 oboInOwl:hasExactSynonym myopathy, congenital, with tremor +WARN duplicate_label_synonym https://omim.org/entry/618524 oboInOwl:hasExactSynonym congenital myopathy 16 WARN duplicate_label_synonym https://omim.org/entry/618525 oboInOwl:hasExactSynonym CCDC33 WARN duplicate_label_synonym https://omim.org/entry/618526 oboInOwl:hasExactSynonym PEAK3 WARN duplicate_label_synonym https://omim.org/entry/618527 oboInOwl:hasExactSynonym ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features @@ -91709,7 +91439,7 @@ WARN duplicate_label_synonym https://omim.org/entry/618530 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618531 oboInOwl:hasExactSynonym erythrokeratodermia variabilis et progressiva 6 WARN duplicate_label_synonym https://omim.org/entry/618532 oboInOwl:hasExactSynonym CLASRP WARN duplicate_label_synonym https://omim.org/entry/618533 oboInOwl:hasExactSynonym deafness, autosomal dominant 37 -WARN duplicate_label_synonym https://omim.org/entry/618534 oboInOwl:hasExactSynonym immunodeficiency 64 +WARN duplicate_label_synonym https://omim.org/entry/618534 oboInOwl:hasExactSynonym immunodeficiency 64 with lymphoproliferation WARN duplicate_label_synonym https://omim.org/entry/618535 oboInOwl:hasExactSynonym ectodermal dysplasia 15, hypohidrotic/hair iia WARN duplicate_label_synonym https://omim.org/entry/618536 oboInOwl:hasExactSynonym CACTIN WARN duplicate_label_synonym https://omim.org/entry/618537 oboInOwl:hasExactSynonym AVPI1 @@ -91753,7 +91483,7 @@ WARN duplicate_label_synonym https://omim.org/entry/618574 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618575 oboInOwl:hasExactSynonym EMSLR WARN duplicate_label_synonym https://omim.org/entry/618576 oboInOwl:hasExactSynonym ZBTB10 WARN duplicate_label_synonym https://omim.org/entry/618577 oboInOwl:hasExactSynonym neurodevelopmental disorder with structural brain anomalies and dysmorphic facies -WARN duplicate_label_synonym https://omim.org/entry/618578 oboInOwl:hasExactSynonym myopathy, congenital, progressive, with scoliosis +WARN duplicate_label_synonym https://omim.org/entry/618578 oboInOwl:hasExactSynonym congenital myopathy 19 WARN duplicate_label_synonym https://omim.org/entry/618579 oboInOwl:hasExactSynonym DMAC2L WARN duplicate_label_synonym https://omim.org/entry/618580 oboInOwl:hasExactSynonym developmental and epileptic encephalopathy 80 WARN duplicate_label_synonym https://omim.org/entry/618581 oboInOwl:hasExactSynonym ANKRD34B @@ -91829,7 +91559,7 @@ WARN duplicate_label_synonym https://omim.org/entry/618650 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618651 oboInOwl:hasExactSynonym halperin-birk syndrome WARN duplicate_label_synonym https://omim.org/entry/618652 oboInOwl:hasExactSynonym neurooculocardiogenitourinary syndrome WARN duplicate_label_synonym https://omim.org/entry/618653 oboInOwl:hasExactSynonym intellectual developmental disorder with impaired language and dysmorphic facies -WARN duplicate_label_synonym https://omim.org/entry/618654 oboInOwl:hasExactSynonym myopathy, congenital, with structured cores and z-line abnormalities +WARN duplicate_label_synonym https://omim.org/entry/618654 oboInOwl:hasExactSynonym congenital myopathy 8 WARN duplicate_label_synonym https://omim.org/entry/618655 oboInOwl:hasExactSynonym myopathy, distal, 6, adult-onset, autosomal dominant WARN duplicate_label_synonym https://omim.org/entry/618656 oboInOwl:hasExactSynonym PERCC1 WARN duplicate_label_synonym https://omim.org/entry/618657 oboInOwl:hasExactSynonym LARP4 @@ -91996,8 +91726,8 @@ WARN duplicate_label_synonym https://omim.org/entry/618818 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618819 oboInOwl:hasExactSynonym PBXIP1 WARN duplicate_label_synonym https://omim.org/entry/618820 oboInOwl:hasExactSynonym genitourinary and/or brain malformation syndrome WARN duplicate_label_synonym https://omim.org/entry/618821 oboInOwl:hasExactSynonym rhizomelic limb shortening with dysmorphic features -WARN duplicate_label_synonym https://omim.org/entry/618822 oboInOwl:hasExactSynonym myopathy, congenital, with respiratory insufficiency and bone fractures -WARN duplicate_label_synonym https://omim.org/entry/618823 oboInOwl:hasExactSynonym myopathy, congenital proximal, with minicore lesions +WARN duplicate_label_synonym https://omim.org/entry/618822 oboInOwl:hasExactSynonym congenital myopathy 9a +WARN duplicate_label_synonym https://omim.org/entry/618823 oboInOwl:hasExactSynonym congenital myopathy 9b, proximal, with minicore lesions WARN duplicate_label_synonym https://omim.org/entry/618824 oboInOwl:hasExactSynonym basal ganglia calcification, idiopathic, 8, autosomal recessive WARN duplicate_label_synonym https://omim.org/entry/618825 oboInOwl:hasExactSynonym intellectual developmental disorder, autosomal dominant 63, with macrocephaly WARN duplicate_label_synonym https://omim.org/entry/618826 oboInOwl:hasExactSynonym retinitis pigmentosa 88 @@ -92149,14 +91879,14 @@ WARN duplicate_label_synonym https://omim.org/entry/618971 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/618972 oboInOwl:hasExactSynonym mitochondrial DNA depletion syndrome 19 WARN duplicate_label_synonym https://omim.org/entry/618973 oboInOwl:hasExactSynonym sodium-dependent multivitamin transporter deficiency WARN duplicate_label_synonym https://omim.org/entry/618974 oboInOwl:hasExactSynonym li-ghorbani-weisz-hubshman syndrome -WARN duplicate_label_synonym https://omim.org/entry/618975 oboInOwl:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies +WARN duplicate_label_synonym https://omim.org/entry/618975 oboInOwl:hasExactSynonym congenital myopathy 17 WARN duplicate_label_synonym https://omim.org/entry/618976 oboInOwl:hasExactSynonym MYOSLID WARN duplicate_label_synonym https://omim.org/entry/618977 oboInOwl:hasExactSynonym optic atrophy 12 WARN duplicate_label_synonym https://omim.org/entry/618978 oboInOwl:hasExactSynonym TMEM163 WARN duplicate_label_synonym https://omim.org/entry/618979 oboInOwl:hasExactSynonym high density lipoprotein cholesterol level quantitative trait locus 7 WARN duplicate_label_synonym https://omim.org/entry/618980 oboInOwl:hasExactSynonym CEP112 WARN duplicate_label_synonym https://omim.org/entry/618981 oboInOwl:hasExactSynonym VPS35L -WARN duplicate_label_synonym https://omim.org/entry/618982 oboInOwl:hasExactSynonym immunodeficiency 72 with autoinflammation +WARN duplicate_label_synonym https://omim.org/entry/618982 oboInOwl:hasExactSynonym immunodeficiency 72 with autoinflammation and lymphoproliferation WARN duplicate_label_synonym https://omim.org/entry/618983 oboInOwl:hasExactSynonym blood group, lewis system WARN duplicate_label_synonym https://omim.org/entry/618984 oboInOwl:hasExactSynonym SUN3 WARN duplicate_label_synonym https://omim.org/entry/618985 oboInOwl:hasExactSynonym growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant @@ -92300,7 +92030,7 @@ WARN duplicate_label_synonym https://omim.org/entry/619122 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/619123 oboInOwl:hasExactSynonym cardiofacioneurodevelopmental syndrome WARN duplicate_label_synonym https://omim.org/entry/619124 oboInOwl:hasExactSynonym developmental and epileptic encephalopathy 89 WARN duplicate_label_synonym https://omim.org/entry/619125 oboInOwl:hasExactSynonym kaya-barakat-masson syndrome -WARN duplicate_label_synonym https://omim.org/entry/619126 oboInOwl:hasExactSynonym immunodeficiency 75 +WARN duplicate_label_synonym https://omim.org/entry/619126 oboInOwl:hasExactSynonym immunodeficiency 75 with lymphoproliferation WARN duplicate_label_synonym https://omim.org/entry/619127 oboInOwl:hasExactSynonym mandibuloacral dysplasia progeroid syndrome WARN duplicate_label_synonym https://omim.org/entry/619128 oboInOwl:hasExactSynonym HYI WARN duplicate_label_synonym https://omim.org/entry/619129 oboInOwl:hasExactSynonym CFAP58 @@ -93140,7 +92870,7 @@ WARN duplicate_label_synonym https://omim.org/entry/619963 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/619964 oboInOwl:hasExactSynonym developmental delay, impaired speech, and behavioral abnormalities, with or without seizures WARN duplicate_label_synonym https://omim.org/entry/619965 oboInOwl:hasExactSynonym ALPK2 WARN duplicate_label_synonym https://omim.org/entry/619966 oboInOwl:hasExactSynonym spastic paraplegia 87, autosomal recessive -WARN duplicate_label_synonym https://omim.org/entry/619967 oboInOwl:hasExactSynonym myopathy, congenital, nonprogressive +WARN duplicate_label_synonym https://omim.org/entry/619967 oboInOwl:hasExactSynonym congenital myopathy 11 WARN duplicate_label_synonym https://omim.org/entry/619968 oboInOwl:hasExactSynonym ACBD4 WARN duplicate_label_synonym https://omim.org/entry/619969 oboInOwl:hasExactSynonym ZBTB47 WARN duplicate_label_synonym https://omim.org/entry/619970 oboInOwl:hasExactSynonym developmental and epileptic encephalopathy 104 @@ -93332,7 +93062,7 @@ WARN duplicate_label_synonym https://omim.org/entry/620157 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/620158 oboInOwl:hasExactSynonym spinocerebellar ataxia 50 WARN duplicate_label_synonym https://omim.org/entry/620159 oboInOwl:hasExactSynonym PNMA8B WARN duplicate_label_synonym https://omim.org/entry/620160 oboInOwl:hasExactSynonym IQCN -WARN duplicate_label_synonym https://omim.org/entry/620161 oboInOwl:hasExactSynonym myopathy, congenital, with neonatal respiratory insufficiency +WARN duplicate_label_synonym https://omim.org/entry/620161 oboInOwl:hasExactSynonym congenital myopathy 15 WARN duplicate_label_synonym https://omim.org/entry/620162 oboInOwl:hasExactSynonym ZNF471 WARN duplicate_label_synonym https://omim.org/entry/620163 oboInOwl:hasExactSynonym ZFP14 WARN duplicate_label_synonym https://omim.org/entry/620164 oboInOwl:hasExactSynonym ZBTB26 @@ -93417,12 +93147,58 @@ WARN duplicate_label_synonym https://omim.org/entry/620242 oboInOwl:hasExactSyno WARN duplicate_label_synonym https://omim.org/entry/620243 oboInOwl:hasExactSynonym leukodystrophy, hypomyelinating, 25 WARN duplicate_label_synonym https://omim.org/entry/620244 oboInOwl:hasExactSynonym lymphatic malformation 13 WARN duplicate_label_synonym https://omim.org/entry/620245 oboInOwl:hasExactSynonym episodic kinesigenic dyskinesia 3 +WARN duplicate_label_synonym https://omim.org/entry/620246 oboInOwl:hasExactSynonym congenital myopathy 18 WARN duplicate_label_synonym https://omim.org/entry/620247 oboInOwl:hasExactSynonym cardiomyopathy, dilated, 1oo WARN duplicate_label_synonym https://omim.org/entry/620248 oboInOwl:hasExactSynonym TMEM80 +WARN duplicate_label_synonym https://omim.org/entry/620249 oboInOwl:hasExactSynonym congenital myopathy 10b, mild variant +WARN duplicate_label_synonym https://omim.org/entry/620250 oboInOwl:hasExactSynonym neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum WARN duplicate_label_synonym https://omim.org/entry/620251 oboInOwl:hasExactSynonym CEP170B WARN duplicate_label_synonym https://omim.org/entry/620252 oboInOwl:hasExactSynonym TMEM245 WARN duplicate_label_synonym https://omim.org/entry/620253 oboInOwl:hasExactSynonym cataract 50 with or without glaucoma WARN duplicate_label_synonym https://omim.org/entry/620254 oboInOwl:hasExactSynonym RNFT2 +WARN duplicate_label_synonym https://omim.org/entry/620255 oboInOwl:hasExactSynonym MFSD13A +WARN duplicate_label_synonym https://omim.org/entry/620256 oboInOwl:hasExactSynonym CLRN3 +WARN duplicate_label_synonym https://omim.org/entry/620257 oboInOwl:hasExactSynonym TMEM158 +WARN duplicate_label_synonym https://omim.org/entry/620258 oboInOwl:hasExactSynonym TMEM160 +WARN duplicate_label_synonym https://omim.org/entry/620259 oboInOwl:hasExactSynonym ANKRD18A +WARN duplicate_label_synonym https://omim.org/entry/620260 oboInOwl:hasExactSynonym TMEM132B +WARN duplicate_label_synonym https://omim.org/entry/620261 oboInOwl:hasExactSynonym EMC6 +WARN duplicate_label_synonym https://omim.org/entry/620262 oboInOwl:hasExactSynonym ANKRD36 +WARN duplicate_label_synonym https://omim.org/entry/620263 oboInOwl:hasExactSynonym OOSP2 +WARN duplicate_label_synonym https://omim.org/entry/620264 oboInOwl:hasExactSynonym PGAP4 +WARN duplicate_label_synonym https://omim.org/entry/620265 oboInOwl:hasExactSynonym congenital myopathy 2b, severe infantile, autosomal recessive +WARN duplicate_label_synonym https://omim.org/entry/620266 oboInOwl:hasExactSynonym RIMOC1 +WARN duplicate_label_synonym https://omim.org/entry/620267 oboInOwl:hasExactSynonym RMC1 +WARN duplicate_label_synonym https://omim.org/entry/620268 oboInOwl:hasExactSynonym FHDC1 +WARN duplicate_label_synonym https://omim.org/entry/620269 oboInOwl:hasExactSynonym leukodystrophy, hypomyelinating, 26, with chondrodysplasia +WARN duplicate_label_synonym https://omim.org/entry/620270 oboInOwl:hasExactSynonym neurodevelopmental disorder with absent speech and movement and behavioral abnormalities +WARN duplicate_label_synonym https://omim.org/entry/620271 oboInOwl:hasExactSynonym TMEM41B +WARN duplicate_label_synonym https://omim.org/entry/620272 oboInOwl:hasExactSynonym TMEM235 +WARN duplicate_label_synonym https://omim.org/entry/620273 oboInOwl:hasExactSynonym EMC3 +WARN duplicate_label_synonym https://omim.org/entry/620274 oboInOwl:hasExactSynonym WDR87 +WARN duplicate_label_synonym https://omim.org/entry/620275 oboInOwl:hasExactSynonym mitochondrial complex 4 deficiency, nuclear iia 23 +WARN duplicate_label_synonym https://omim.org/entry/620276 oboInOwl:hasExactSynonym oocyte maturation defect 14 +WARN duplicate_label_synonym https://omim.org/entry/620277 oboInOwl:hasExactSynonym spermatogenic failure 81 +WARN duplicate_label_synonym https://omim.org/entry/620278 oboInOwl:hasExactSynonym congenital myopathy 2c, severe infantile, autosomal dominant +WARN duplicate_label_synonym https://omim.org/entry/620279 oboInOwl:hasExactSynonym DAW1 +WARN duplicate_label_synonym https://omim.org/entry/620280 oboInOwl:hasExactSynonym deafness, autosomal dominant 86 +WARN duplicate_label_synonym https://omim.org/entry/620281 oboInOwl:hasExactSynonym deafness, autosomal dominant 87 +WARN duplicate_label_synonym https://omim.org/entry/620282 oboInOwl:hasExactSynonym immunodeficiency 109 with lymphoproliferation +WARN duplicate_label_synonym https://omim.org/entry/620283 oboInOwl:hasExactSynonym deafness, autosomal dominant 88 +WARN duplicate_label_synonym https://omim.org/entry/620284 oboInOwl:hasExactSynonym deafness, autosomal dominant 89 +WARN duplicate_label_synonym https://omim.org/entry/620285 oboInOwl:hasExactSynonym amyotrophic lateral sclerosis 27, juvenile +WARN duplicate_label_synonym https://omim.org/entry/620286 oboInOwl:hasExactSynonym myopathy, sarcoplasmic body +WARN duplicate_label_synonym https://omim.org/entry/620287 oboInOwl:hasExactSynonym TMEM71 +WARN duplicate_label_synonym https://omim.org/entry/620288 oboInOwl:hasExactSynonym TEDDM1 +WARN duplicate_label_synonym https://omim.org/entry/620289 oboInOwl:hasExactSynonym TMEM234 +WARN duplicate_label_synonym https://omim.org/entry/620290 oboInOwl:hasExactSynonym TMEM219 +WARN duplicate_label_synonym https://omim.org/entry/620291 oboInOwl:hasExactSynonym WDR18 +WARN duplicate_label_synonym https://omim.org/entry/620292 oboInOwl:hasExactSynonym neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +WARN duplicate_label_synonym https://omim.org/entry/620293 oboInOwl:hasExactSynonym TMEM9B +WARN duplicate_label_synonym https://omim.org/entry/620294 oboInOwl:hasExactSynonym congenital heart defects, multiple types, 9 +WARN duplicate_label_synonym https://omim.org/entry/620295 oboInOwl:hasExactSynonym DCAF10 +WARN duplicate_label_synonym https://omim.org/entry/620297 oboInOwl:hasExactSynonym SLC35A4 +WARN duplicate_label_synonym https://omim.org/entry/620298 oboInOwl:hasExactSynonym SLC35A5 WARN duplicate_label_synonym https://www.omim.org/phenotypicSeries/PS151100 oboInOwl:hasExactSynonym LEOPARD syndrome WARN duplicate_label_synonym https://www.omim.org/phenotypicSeries/PS614594 oboInOwl:hasExactSynonym Olmsted syndrome WARN missing_definition http://purl.bioontology.org/ontology/ICD10CM/A00 IAO:0000115 @@ -387780,7 +387556,6 @@ WARN missing_definition https://omim.org/entry/102540 IAO:0000115 WARN missing_definition https://omim.org/entry/102545 IAO:0000115 WARN missing_definition https://omim.org/entry/102560 IAO:0000115 WARN missing_definition https://omim.org/entry/102565 IAO:0000115 -WARN missing_definition https://omim.org/entry/102570 IAO:0000115 WARN missing_definition https://omim.org/entry/102573 IAO:0000115 WARN missing_definition https://omim.org/entry/102574 IAO:0000115 WARN missing_definition https://omim.org/entry/102575 IAO:0000115 @@ -387815,10 +387590,6 @@ WARN missing_definition https://omim.org/entry/102776 IAO:0000115 WARN missing_definition https://omim.org/entry/102800 IAO:0000115 WARN missing_definition https://omim.org/entry/102900 IAO:0000115 WARN missing_definition https://omim.org/entry/102910 IAO:0000115 -WARN missing_definition https://omim.org/entry/102920 IAO:0000115 -WARN missing_definition https://omim.org/entry/102930 IAO:0000115 -WARN missing_definition https://omim.org/entry/102940 IAO:0000115 -WARN missing_definition https://omim.org/entry/102970 IAO:0000115 WARN missing_definition https://omim.org/entry/102980 IAO:0000115 WARN missing_definition https://omim.org/entry/102981 IAO:0000115 WARN missing_definition https://omim.org/entry/103000 IAO:0000115 @@ -387966,7 +387737,6 @@ WARN missing_definition https://omim.org/entry/107000 IAO:0000115 WARN missing_definition https://omim.org/entry/107100 IAO:0000115 WARN missing_definition https://omim.org/entry/107200 IAO:0000115 WARN missing_definition https://omim.org/entry/107250 IAO:0000115 -WARN missing_definition https://omim.org/entry/107253 IAO:0000115 WARN missing_definition https://omim.org/entry/107254 IAO:0000115 WARN missing_definition https://omim.org/entry/107260 IAO:0000115 WARN missing_definition https://omim.org/entry/107265 IAO:0000115 @@ -388039,7 +387809,6 @@ WARN missing_definition https://omim.org/entry/108360 IAO:0000115 WARN missing_definition https://omim.org/entry/108361 IAO:0000115 WARN missing_definition https://omim.org/entry/108370 IAO:0000115 WARN missing_definition https://omim.org/entry/108390 IAO:0000115 -WARN missing_definition https://omim.org/entry/108400 IAO:0000115 WARN missing_definition https://omim.org/entry/108410 IAO:0000115 WARN missing_definition https://omim.org/entry/108420 IAO:0000115 WARN missing_definition https://omim.org/entry/108450 IAO:0000115 @@ -388395,7 +388164,6 @@ WARN missing_definition https://omim.org/entry/117139 IAO:0000115 WARN missing_definition https://omim.org/entry/117140 IAO:0000115 WARN missing_definition https://omim.org/entry/117141 IAO:0000115 WARN missing_definition https://omim.org/entry/117143 IAO:0000115 -WARN missing_definition https://omim.org/entry/117200 IAO:0000115 WARN missing_definition https://omim.org/entry/117210 IAO:0000115 WARN missing_definition https://omim.org/entry/117300 IAO:0000115 WARN missing_definition https://omim.org/entry/117340 IAO:0000115 @@ -388573,7 +388341,6 @@ WARN missing_definition https://omim.org/entry/120950 IAO:0000115 WARN missing_definition https://omim.org/entry/120960 IAO:0000115 WARN missing_definition https://omim.org/entry/120970 IAO:0000115 WARN missing_definition https://omim.org/entry/120980 IAO:0000115 -WARN missing_definition https://omim.org/entry/121000 IAO:0000115 WARN missing_definition https://omim.org/entry/121009 IAO:0000115 WARN missing_definition https://omim.org/entry/121010 IAO:0000115 WARN missing_definition https://omim.org/entry/121011 IAO:0000115 @@ -388729,7 +388496,6 @@ WARN missing_definition https://omim.org/entry/124450 IAO:0000115 WARN missing_definition https://omim.org/entry/124480 IAO:0000115 WARN missing_definition https://omim.org/entry/124490 IAO:0000115 WARN missing_definition https://omim.org/entry/124500 IAO:0000115 -WARN missing_definition https://omim.org/entry/124580 IAO:0000115 WARN missing_definition https://omim.org/entry/124700 IAO:0000115 WARN missing_definition https://omim.org/entry/124900 IAO:0000115 WARN missing_definition https://omim.org/entry/124950 IAO:0000115 @@ -388763,7 +388529,6 @@ WARN missing_definition https://omim.org/entry/125485 IAO:0000115 WARN missing_definition https://omim.org/entry/125490 IAO:0000115 WARN missing_definition https://omim.org/entry/125500 IAO:0000115 WARN missing_definition https://omim.org/entry/125505 IAO:0000115 -WARN missing_definition https://omim.org/entry/125510 IAO:0000115 WARN missing_definition https://omim.org/entry/125520 IAO:0000115 WARN missing_definition https://omim.org/entry/125530 IAO:0000115 WARN missing_definition https://omim.org/entry/125540 IAO:0000115 @@ -388827,7 +388592,6 @@ WARN missing_definition https://omim.org/entry/126410 IAO:0000115 WARN missing_definition https://omim.org/entry/126420 IAO:0000115 WARN missing_definition https://omim.org/entry/126430 IAO:0000115 WARN missing_definition https://omim.org/entry/126431 IAO:0000115 -WARN missing_definition https://omim.org/entry/126440 IAO:0000115 WARN missing_definition https://omim.org/entry/126449 IAO:0000115 WARN missing_definition https://omim.org/entry/126450 IAO:0000115 WARN missing_definition https://omim.org/entry/126451 IAO:0000115 @@ -388996,7 +388760,6 @@ WARN missing_definition https://omim.org/entry/132800 IAO:0000115 WARN missing_definition https://omim.org/entry/132810 IAO:0000115 WARN missing_definition https://omim.org/entry/132811 IAO:0000115 WARN missing_definition https://omim.org/entry/132850 IAO:0000115 -WARN missing_definition https://omim.org/entry/132860 IAO:0000115 WARN missing_definition https://omim.org/entry/132880 IAO:0000115 WARN missing_definition https://omim.org/entry/132890 IAO:0000115 WARN missing_definition https://omim.org/entry/132900 IAO:0000115 @@ -389034,9 +388797,6 @@ WARN missing_definition https://omim.org/entry/133690 IAO:0000115 WARN missing_definition https://omim.org/entry/133700 IAO:0000115 WARN missing_definition https://omim.org/entry/133701 IAO:0000115 WARN missing_definition https://omim.org/entry/133705 IAO:0000115 -WARN missing_definition https://omim.org/entry/133710 IAO:0000115 -WARN missing_definition https://omim.org/entry/133730 IAO:0000115 -WARN missing_definition https://omim.org/entry/133740 IAO:0000115 WARN missing_definition https://omim.org/entry/133750 IAO:0000115 WARN missing_definition https://omim.org/entry/133780 IAO:0000115 WARN missing_definition https://omim.org/entry/133800 IAO:0000115 @@ -389143,7 +388903,6 @@ WARN missing_definition https://omim.org/entry/136620 IAO:0000115 WARN missing_definition https://omim.org/entry/136630 IAO:0000115 WARN missing_definition https://omim.org/entry/136640 IAO:0000115 WARN missing_definition https://omim.org/entry/136660 IAO:0000115 -WARN missing_definition https://omim.org/entry/136670 IAO:0000115 WARN missing_definition https://omim.org/entry/136680 IAO:0000115 WARN missing_definition https://omim.org/entry/136760 IAO:0000115 WARN missing_definition https://omim.org/entry/136800 IAO:0000115 @@ -389282,7 +389041,6 @@ WARN missing_definition https://omim.org/entry/138360 IAO:0000115 WARN missing_definition https://omim.org/entry/138380 IAO:0000115 WARN missing_definition https://omim.org/entry/138385 IAO:0000115 WARN missing_definition https://omim.org/entry/138390 IAO:0000115 -WARN missing_definition https://omim.org/entry/138391 IAO:0000115 WARN missing_definition https://omim.org/entry/138400 IAO:0000115 WARN missing_definition https://omim.org/entry/138420 IAO:0000115 WARN missing_definition https://omim.org/entry/138430 IAO:0000115 @@ -389337,8 +389095,6 @@ WARN missing_definition https://omim.org/entry/139190 IAO:0000115 WARN missing_definition https://omim.org/entry/139191 IAO:0000115 WARN missing_definition https://omim.org/entry/139200 IAO:0000115 WARN missing_definition https://omim.org/entry/139210 IAO:0000115 -WARN missing_definition https://omim.org/entry/139220 IAO:0000115 -WARN missing_definition https://omim.org/entry/139230 IAO:0000115 WARN missing_definition https://omim.org/entry/139240 IAO:0000115 WARN missing_definition https://omim.org/entry/139250 IAO:0000115 WARN missing_definition https://omim.org/entry/139255 IAO:0000115 @@ -389443,7 +389199,6 @@ WARN missing_definition https://omim.org/entry/142400 IAO:0000115 WARN missing_definition https://omim.org/entry/142408 IAO:0000115 WARN missing_definition https://omim.org/entry/142409 IAO:0000115 WARN missing_definition https://omim.org/entry/142410 IAO:0000115 -WARN missing_definition https://omim.org/entry/142420 IAO:0000115 WARN missing_definition https://omim.org/entry/142440 IAO:0000115 WARN missing_definition https://omim.org/entry/142445 IAO:0000115 WARN missing_definition https://omim.org/entry/142460 IAO:0000115 @@ -389496,7 +389251,6 @@ WARN missing_definition https://omim.org/entry/142856 IAO:0000115 WARN missing_definition https://omim.org/entry/142857 IAO:0000115 WARN missing_definition https://omim.org/entry/142858 IAO:0000115 WARN missing_definition https://omim.org/entry/142860 IAO:0000115 -WARN missing_definition https://omim.org/entry/142870 IAO:0000115 WARN missing_definition https://omim.org/entry/142871 IAO:0000115 WARN missing_definition https://omim.org/entry/142880 IAO:0000115 WARN missing_definition https://omim.org/entry/142890 IAO:0000115 @@ -389561,8 +389315,6 @@ WARN missing_definition https://omim.org/entry/143050 IAO:0000115 WARN missing_definition https://omim.org/entry/143054 IAO:0000115 WARN missing_definition https://omim.org/entry/143055 IAO:0000115 WARN missing_definition https://omim.org/entry/143060 IAO:0000115 -WARN missing_definition https://omim.org/entry/143070 IAO:0000115 -WARN missing_definition https://omim.org/entry/143080 IAO:0000115 WARN missing_definition https://omim.org/entry/143089 IAO:0000115 WARN missing_definition https://omim.org/entry/143095 IAO:0000115 WARN missing_definition https://omim.org/entry/143100 IAO:0000115 @@ -389732,7 +389484,6 @@ WARN missing_definition https://omim.org/entry/147370 IAO:0000115 WARN missing_definition https://omim.org/entry/147380 IAO:0000115 WARN missing_definition https://omim.org/entry/147390 IAO:0000115 WARN missing_definition https://omim.org/entry/147400 IAO:0000115 -WARN missing_definition https://omim.org/entry/147410 IAO:0000115 WARN missing_definition https://omim.org/entry/147421 IAO:0000115 WARN missing_definition https://omim.org/entry/147430 IAO:0000115 WARN missing_definition https://omim.org/entry/147435 IAO:0000115 @@ -389742,7 +389493,6 @@ WARN missing_definition https://omim.org/entry/147460 IAO:0000115 WARN missing_definition https://omim.org/entry/147470 IAO:0000115 WARN missing_definition https://omim.org/entry/147480 IAO:0000115 WARN missing_definition https://omim.org/entry/147485 IAO:0000115 -WARN missing_definition https://omim.org/entry/147490 IAO:0000115 WARN missing_definition https://omim.org/entry/147510 IAO:0000115 WARN missing_definition https://omim.org/entry/147520 IAO:0000115 WARN missing_definition https://omim.org/entry/147521 IAO:0000115 @@ -389794,7 +389544,6 @@ WARN missing_definition https://omim.org/entry/147679 IAO:0000115 WARN missing_definition https://omim.org/entry/147680 IAO:0000115 WARN missing_definition https://omim.org/entry/147681 IAO:0000115 WARN missing_definition https://omim.org/entry/147683 IAO:0000115 -WARN missing_definition https://omim.org/entry/147684 IAO:0000115 WARN missing_definition https://omim.org/entry/147685 IAO:0000115 WARN missing_definition https://omim.org/entry/147690 IAO:0000115 WARN missing_definition https://omim.org/entry/147700 IAO:0000115 @@ -389946,7 +389695,6 @@ WARN missing_definition https://omim.org/entry/151520 IAO:0000115 WARN missing_definition https://omim.org/entry/151523 IAO:0000115 WARN missing_definition https://omim.org/entry/151525 IAO:0000115 WARN missing_definition https://omim.org/entry/151530 IAO:0000115 -WARN missing_definition https://omim.org/entry/151550 IAO:0000115 WARN missing_definition https://omim.org/entry/151570 IAO:0000115 WARN missing_definition https://omim.org/entry/151590 IAO:0000115 WARN missing_definition https://omim.org/entry/151600 IAO:0000115 @@ -390102,7 +389850,6 @@ WARN missing_definition https://omim.org/entry/155760 IAO:0000115 WARN missing_definition https://omim.org/entry/155770 IAO:0000115 WARN missing_definition https://omim.org/entry/155900 IAO:0000115 WARN missing_definition https://omim.org/entry/155950 IAO:0000115 -WARN missing_definition https://omim.org/entry/155960 IAO:0000115 WARN missing_definition https://omim.org/entry/155970 IAO:0000115 WARN missing_definition https://omim.org/entry/155980 IAO:0000115 WARN missing_definition https://omim.org/entry/156000 IAO:0000115 @@ -390380,7 +390127,6 @@ WARN missing_definition https://omim.org/entry/163731 IAO:0000115 WARN missing_definition https://omim.org/entry/163800 IAO:0000115 WARN missing_definition https://omim.org/entry/163850 IAO:0000115 WARN missing_definition https://omim.org/entry/163890 IAO:0000115 -WARN missing_definition https://omim.org/entry/163900 IAO:0000115 WARN missing_definition https://omim.org/entry/163905 IAO:0000115 WARN missing_definition https://omim.org/entry/163906 IAO:0000115 WARN missing_definition https://omim.org/entry/163910 IAO:0000115 @@ -390434,7 +390180,6 @@ WARN missing_definition https://omim.org/entry/164400 IAO:0000115 WARN missing_definition https://omim.org/entry/164500 IAO:0000115 WARN missing_definition https://omim.org/entry/164680 IAO:0000115 WARN missing_definition https://omim.org/entry/164690 IAO:0000115 -WARN missing_definition https://omim.org/entry/164710 IAO:0000115 WARN missing_definition https://omim.org/entry/164720 IAO:0000115 WARN missing_definition https://omim.org/entry/164730 IAO:0000115 WARN missing_definition https://omim.org/entry/164731 IAO:0000115 @@ -390456,7 +390201,6 @@ WARN missing_definition https://omim.org/entry/164795 IAO:0000115 WARN missing_definition https://omim.org/entry/164800 IAO:0000115 WARN missing_definition https://omim.org/entry/164810 IAO:0000115 WARN missing_definition https://omim.org/entry/164820 IAO:0000115 -WARN missing_definition https://omim.org/entry/164830 IAO:0000115 WARN missing_definition https://omim.org/entry/164831 IAO:0000115 WARN missing_definition https://omim.org/entry/164840 IAO:0000115 WARN missing_definition https://omim.org/entry/164850 IAO:0000115 @@ -390666,7 +390410,6 @@ WARN missing_definition https://omim.org/entry/170700 IAO:0000115 WARN missing_definition https://omim.org/entry/170710 IAO:0000115 WARN missing_definition https://omim.org/entry/170715 IAO:0000115 WARN missing_definition https://omim.org/entry/170900 IAO:0000115 -WARN missing_definition https://omim.org/entry/170950 IAO:0000115 WARN missing_definition https://omim.org/entry/170980 IAO:0000115 WARN missing_definition https://omim.org/entry/170990 IAO:0000115 WARN missing_definition https://omim.org/entry/170993 IAO:0000115 @@ -390689,7 +390432,6 @@ WARN missing_definition https://omim.org/entry/171500 IAO:0000115 WARN missing_definition https://omim.org/entry/171640 IAO:0000115 WARN missing_definition https://omim.org/entry/171650 IAO:0000115 WARN missing_definition https://omim.org/entry/171660 IAO:0000115 -WARN missing_definition https://omim.org/entry/171700 IAO:0000115 WARN missing_definition https://omim.org/entry/171720 IAO:0000115 WARN missing_definition https://omim.org/entry/171740 IAO:0000115 WARN missing_definition https://omim.org/entry/171750 IAO:0000115 @@ -390987,7 +390729,6 @@ WARN missing_definition https://omim.org/entry/177750 IAO:0000115 WARN missing_definition https://omim.org/entry/177800 IAO:0000115 WARN missing_definition https://omim.org/entry/177820 IAO:0000115 WARN missing_definition https://omim.org/entry/177850 IAO:0000115 -WARN missing_definition https://omim.org/entry/177860 IAO:0000115 WARN missing_definition https://omim.org/entry/177900 IAO:0000115 WARN missing_definition https://omim.org/entry/177980 IAO:0000115 WARN missing_definition https://omim.org/entry/177990 IAO:0000115 @@ -391065,7 +390806,6 @@ WARN missing_definition https://omim.org/entry/179620 IAO:0000115 WARN missing_definition https://omim.org/entry/179650 IAO:0000115 WARN missing_definition https://omim.org/entry/179700 IAO:0000115 WARN missing_definition https://omim.org/entry/179710 IAO:0000115 -WARN missing_definition https://omim.org/entry/179715 IAO:0000115 WARN missing_definition https://omim.org/entry/179730 IAO:0000115 WARN missing_definition https://omim.org/entry/179740 IAO:0000115 WARN missing_definition https://omim.org/entry/179755 IAO:0000115 @@ -391114,7 +390854,6 @@ WARN missing_definition https://omim.org/entry/180290 IAO:0000115 WARN missing_definition https://omim.org/entry/180295 IAO:0000115 WARN missing_definition https://omim.org/entry/180297 IAO:0000115 WARN missing_definition https://omim.org/entry/180300 IAO:0000115 -WARN missing_definition https://omim.org/entry/180330 IAO:0000115 WARN missing_definition https://omim.org/entry/180350 IAO:0000115 WARN missing_definition https://omim.org/entry/180360 IAO:0000115 WARN missing_definition https://omim.org/entry/180370 IAO:0000115 @@ -391194,8 +390933,6 @@ WARN missing_definition https://omim.org/entry/180902 IAO:0000115 WARN missing_definition https://omim.org/entry/180903 IAO:0000115 WARN missing_definition https://omim.org/entry/180910 IAO:0000115 WARN missing_definition https://omim.org/entry/180920 IAO:0000115 -WARN missing_definition https://omim.org/entry/180930 IAO:0000115 -WARN missing_definition https://omim.org/entry/180940 IAO:0000115 WARN missing_definition https://omim.org/entry/180950 IAO:0000115 WARN missing_definition https://omim.org/entry/180960 IAO:0000115 WARN missing_definition https://omim.org/entry/180980 IAO:0000115 @@ -391214,7 +390951,6 @@ WARN missing_definition https://omim.org/entry/181300 IAO:0000115 WARN missing_definition https://omim.org/entry/181350 IAO:0000115 WARN missing_definition https://omim.org/entry/181400 IAO:0000115 WARN missing_definition https://omim.org/entry/181405 IAO:0000115 -WARN missing_definition https://omim.org/entry/181430 IAO:0000115 WARN missing_definition https://omim.org/entry/181440 IAO:0000115 WARN missing_definition https://omim.org/entry/181450 IAO:0000115 WARN missing_definition https://omim.org/entry/181460 IAO:0000115 @@ -391328,7 +391064,6 @@ WARN missing_definition https://omim.org/entry/182889 IAO:0000115 WARN missing_definition https://omim.org/entry/182890 IAO:0000115 WARN missing_definition https://omim.org/entry/182891 IAO:0000115 WARN missing_definition https://omim.org/entry/182900 IAO:0000115 -WARN missing_definition https://omim.org/entry/182920 IAO:0000115 WARN missing_definition https://omim.org/entry/182940 IAO:0000115 WARN missing_definition https://omim.org/entry/182950 IAO:0000115 WARN missing_definition https://omim.org/entry/182960 IAO:0000115 @@ -391340,7 +391075,6 @@ WARN missing_definition https://omim.org/entry/183050 IAO:0000115 WARN missing_definition https://omim.org/entry/183086 IAO:0000115 WARN missing_definition https://omim.org/entry/183090 IAO:0000115 WARN missing_definition https://omim.org/entry/183100 IAO:0000115 -WARN missing_definition https://omim.org/entry/183250 IAO:0000115 WARN missing_definition https://omim.org/entry/183300 IAO:0000115 WARN missing_definition https://omim.org/entry/183350 IAO:0000115 WARN missing_definition https://omim.org/entry/183400 IAO:0000115 @@ -391398,7 +391132,6 @@ WARN missing_definition https://omim.org/entry/185261 IAO:0000115 WARN missing_definition https://omim.org/entry/185300 IAO:0000115 WARN missing_definition https://omim.org/entry/185430 IAO:0000115 WARN missing_definition https://omim.org/entry/185440 IAO:0000115 -WARN missing_definition https://omim.org/entry/185450 IAO:0000115 WARN missing_definition https://omim.org/entry/185460 IAO:0000115 WARN missing_definition https://omim.org/entry/185470 IAO:0000115 WARN missing_definition https://omim.org/entry/185480 IAO:0000115 @@ -391412,7 +391145,6 @@ WARN missing_definition https://omim.org/entry/185560 IAO:0000115 WARN missing_definition https://omim.org/entry/185570 IAO:0000115 WARN missing_definition https://omim.org/entry/185580 IAO:0000115 WARN missing_definition https://omim.org/entry/185590 IAO:0000115 -WARN missing_definition https://omim.org/entry/185595 IAO:0000115 WARN missing_definition https://omim.org/entry/185600 IAO:0000115 WARN missing_definition https://omim.org/entry/185605 IAO:0000115 WARN missing_definition https://omim.org/entry/185610 IAO:0000115 @@ -391448,7 +391180,6 @@ WARN missing_definition https://omim.org/entry/186580 IAO:0000115 WARN missing_definition https://omim.org/entry/186590 IAO:0000115 WARN missing_definition https://omim.org/entry/186591 IAO:0000115 WARN missing_definition https://omim.org/entry/186600 IAO:0000115 -WARN missing_definition https://omim.org/entry/186690 IAO:0000115 WARN missing_definition https://omim.org/entry/186700 IAO:0000115 WARN missing_definition https://omim.org/entry/186711 IAO:0000115 WARN missing_definition https://omim.org/entry/186720 IAO:0000115 @@ -391472,7 +391203,6 @@ WARN missing_definition https://omim.org/entry/186860 IAO:0000115 WARN missing_definition https://omim.org/entry/186880 IAO:0000115 WARN missing_definition https://omim.org/entry/186890 IAO:0000115 WARN missing_definition https://omim.org/entry/186910 IAO:0000115 -WARN missing_definition https://omim.org/entry/186920 IAO:0000115 WARN missing_definition https://omim.org/entry/186921 IAO:0000115 WARN missing_definition https://omim.org/entry/186930 IAO:0000115 WARN missing_definition https://omim.org/entry/186940 IAO:0000115 @@ -391784,7 +391514,6 @@ WARN missing_definition https://omim.org/entry/191950 IAO:0000115 WARN missing_definition https://omim.org/entry/192000 IAO:0000115 WARN missing_definition https://omim.org/entry/192020 IAO:0000115 WARN missing_definition https://omim.org/entry/192050 IAO:0000115 -WARN missing_definition https://omim.org/entry/192070 IAO:0000115 WARN missing_definition https://omim.org/entry/192090 IAO:0000115 WARN missing_definition https://omim.org/entry/192100 IAO:0000115 WARN missing_definition https://omim.org/entry/192130 IAO:0000115 @@ -391845,7 +391574,6 @@ WARN missing_definition https://omim.org/entry/193520 IAO:0000115 WARN missing_definition https://omim.org/entry/193525 IAO:0000115 WARN missing_definition https://omim.org/entry/193530 IAO:0000115 WARN missing_definition https://omim.org/entry/193670 IAO:0000115 -WARN missing_definition https://omim.org/entry/193675 IAO:0000115 WARN missing_definition https://omim.org/entry/193700 IAO:0000115 WARN missing_definition https://omim.org/entry/193900 IAO:0000115 WARN missing_definition https://omim.org/entry/194000 IAO:0000115 @@ -391874,7 +391602,6 @@ WARN missing_definition https://omim.org/entry/194480 IAO:0000115 WARN missing_definition https://omim.org/entry/194490 IAO:0000115 WARN missing_definition https://omim.org/entry/194500 IAO:0000115 WARN missing_definition https://omim.org/entry/194510 IAO:0000115 -WARN missing_definition https://omim.org/entry/194520 IAO:0000115 WARN missing_definition https://omim.org/entry/194521 IAO:0000115 WARN missing_definition https://omim.org/entry/194522 IAO:0000115 WARN missing_definition https://omim.org/entry/194524 IAO:0000115 @@ -391883,7 +391610,6 @@ WARN missing_definition https://omim.org/entry/194526 IAO:0000115 WARN missing_definition https://omim.org/entry/194527 IAO:0000115 WARN missing_definition https://omim.org/entry/194528 IAO:0000115 WARN missing_definition https://omim.org/entry/194529 IAO:0000115 -WARN missing_definition https://omim.org/entry/194530 IAO:0000115 WARN missing_definition https://omim.org/entry/194531 IAO:0000115 WARN missing_definition https://omim.org/entry/194532 IAO:0000115 WARN missing_definition https://omim.org/entry/194533 IAO:0000115 @@ -391934,7 +391660,6 @@ WARN missing_definition https://omim.org/entry/200600 IAO:0000115 WARN missing_definition https://omim.org/entry/200610 IAO:0000115 WARN missing_definition https://omim.org/entry/200700 IAO:0000115 WARN missing_definition https://omim.org/entry/200900 IAO:0000115 -WARN missing_definition https://omim.org/entry/200930 IAO:0000115 WARN missing_definition https://omim.org/entry/200950 IAO:0000115 WARN missing_definition https://omim.org/entry/200970 IAO:0000115 WARN missing_definition https://omim.org/entry/200980 IAO:0000115 @@ -391999,7 +391724,6 @@ WARN missing_definition https://omim.org/entry/204100 IAO:0000115 WARN missing_definition https://omim.org/entry/204110 IAO:0000115 WARN missing_definition https://omim.org/entry/204200 IAO:0000115 WARN missing_definition https://omim.org/entry/204300 IAO:0000115 -WARN missing_definition https://omim.org/entry/204400 IAO:0000115 WARN missing_definition https://omim.org/entry/204500 IAO:0000115 WARN missing_definition https://omim.org/entry/204650 IAO:0000115 WARN missing_definition https://omim.org/entry/204690 IAO:0000115 @@ -392122,7 +391846,6 @@ WARN missing_definition https://omim.org/entry/211370 IAO:0000115 WARN missing_definition https://omim.org/entry/211380 IAO:0000115 WARN missing_definition https://omim.org/entry/211390 IAO:0000115 WARN missing_definition https://omim.org/entry/211400 IAO:0000115 -WARN missing_definition https://omim.org/entry/211420 IAO:0000115 WARN missing_definition https://omim.org/entry/211450 IAO:0000115 WARN missing_definition https://omim.org/entry/211480 IAO:0000115 WARN missing_definition https://omim.org/entry/211500 IAO:0000115 @@ -392163,8 +391886,6 @@ WARN missing_definition https://omim.org/entry/212400 IAO:0000115 WARN missing_definition https://omim.org/entry/212500 IAO:0000115 WARN missing_definition https://omim.org/entry/212540 IAO:0000115 WARN missing_definition https://omim.org/entry/212550 IAO:0000115 -WARN missing_definition https://omim.org/entry/212600 IAO:0000115 -WARN missing_definition https://omim.org/entry/212700 IAO:0000115 WARN missing_definition https://omim.org/entry/212710 IAO:0000115 WARN missing_definition https://omim.org/entry/212720 IAO:0000115 WARN missing_definition https://omim.org/entry/212750 IAO:0000115 @@ -392317,7 +392038,6 @@ WARN missing_definition https://omim.org/entry/220400 IAO:0000115 WARN missing_definition https://omim.org/entry/220500 IAO:0000115 WARN missing_definition https://omim.org/entry/220600 IAO:0000115 WARN missing_definition https://omim.org/entry/220900 IAO:0000115 -WARN missing_definition https://omim.org/entry/221000 IAO:0000115 WARN missing_definition https://omim.org/entry/221200 IAO:0000115 WARN missing_definition https://omim.org/entry/221300 IAO:0000115 WARN missing_definition https://omim.org/entry/221320 IAO:0000115 @@ -392399,7 +392119,6 @@ WARN missing_definition https://omim.org/entry/225290 IAO:0000115 WARN missing_definition https://omim.org/entry/225300 IAO:0000115 WARN missing_definition https://omim.org/entry/225310 IAO:0000115 WARN missing_definition https://omim.org/entry/225320 IAO:0000115 -WARN missing_definition https://omim.org/entry/225360 IAO:0000115 WARN missing_definition https://omim.org/entry/225400 IAO:0000115 WARN missing_definition https://omim.org/entry/225410 IAO:0000115 WARN missing_definition https://omim.org/entry/225500 IAO:0000115 @@ -392521,10 +392240,8 @@ WARN missing_definition https://omim.org/entry/231095 IAO:0000115 WARN missing_definition https://omim.org/entry/231100 IAO:0000115 WARN missing_definition https://omim.org/entry/231200 IAO:0000115 WARN missing_definition https://omim.org/entry/231300 IAO:0000115 -WARN missing_definition https://omim.org/entry/231400 IAO:0000115 WARN missing_definition https://omim.org/entry/231530 IAO:0000115 WARN missing_definition https://omim.org/entry/231550 IAO:0000115 -WARN missing_definition https://omim.org/entry/231610 IAO:0000115 WARN missing_definition https://omim.org/entry/231630 IAO:0000115 WARN missing_definition https://omim.org/entry/231670 IAO:0000115 WARN missing_definition https://omim.org/entry/231675 IAO:0000115 @@ -392649,7 +392366,6 @@ WARN missing_definition https://omim.org/entry/239199 IAO:0000115 WARN missing_definition https://omim.org/entry/239200 IAO:0000115 WARN missing_definition https://omim.org/entry/239300 IAO:0000115 WARN missing_definition https://omim.org/entry/239350 IAO:0000115 -WARN missing_definition https://omim.org/entry/239400 IAO:0000115 WARN missing_definition https://omim.org/entry/239500 IAO:0000115 WARN missing_definition https://omim.org/entry/239510 IAO:0000115 WARN missing_definition https://omim.org/entry/239710 IAO:0000115 @@ -392659,7 +392375,6 @@ WARN missing_definition https://omim.org/entry/239840 IAO:0000115 WARN missing_definition https://omim.org/entry/239850 IAO:0000115 WARN missing_definition https://omim.org/entry/239900 IAO:0000115 WARN missing_definition https://omim.org/entry/240000 IAO:0000115 -WARN missing_definition https://omim.org/entry/240100 IAO:0000115 WARN missing_definition https://omim.org/entry/240150 IAO:0000115 WARN missing_definition https://omim.org/entry/240200 IAO:0000115 WARN missing_definition https://omim.org/entry/240300 IAO:0000115 @@ -392703,7 +392418,6 @@ WARN missing_definition https://omim.org/entry/242600 IAO:0000115 WARN missing_definition https://omim.org/entry/242670 IAO:0000115 WARN missing_definition https://omim.org/entry/242680 IAO:0000115 WARN missing_definition https://omim.org/entry/242700 IAO:0000115 -WARN missing_definition https://omim.org/entry/242800 IAO:0000115 WARN missing_definition https://omim.org/entry/242840 IAO:0000115 WARN missing_definition https://omim.org/entry/242850 IAO:0000115 WARN missing_definition https://omim.org/entry/242860 IAO:0000115 @@ -392759,7 +392473,6 @@ WARN missing_definition https://omim.org/entry/245349 IAO:0000115 WARN missing_definition https://omim.org/entry/245400 IAO:0000115 WARN missing_definition https://omim.org/entry/245450 IAO:0000115 WARN missing_definition https://omim.org/entry/245480 IAO:0000115 -WARN missing_definition https://omim.org/entry/245500 IAO:0000115 WARN missing_definition https://omim.org/entry/245550 IAO:0000115 WARN missing_definition https://omim.org/entry/245552 IAO:0000115 WARN missing_definition https://omim.org/entry/245570 IAO:0000115 @@ -392849,7 +392562,6 @@ WARN missing_definition https://omim.org/entry/249660 IAO:0000115 WARN missing_definition https://omim.org/entry/249670 IAO:0000115 WARN missing_definition https://omim.org/entry/249700 IAO:0000115 WARN missing_definition https://omim.org/entry/249710 IAO:0000115 -WARN missing_definition https://omim.org/entry/249800 IAO:0000115 WARN missing_definition https://omim.org/entry/249900 IAO:0000115 WARN missing_definition https://omim.org/entry/250100 IAO:0000115 WARN missing_definition https://omim.org/entry/250215 IAO:0000115 @@ -392904,7 +392616,6 @@ WARN missing_definition https://omim.org/entry/251945 IAO:0000115 WARN missing_definition https://omim.org/entry/251950 IAO:0000115 WARN missing_definition https://omim.org/entry/252010 IAO:0000115 WARN missing_definition https://omim.org/entry/252011 IAO:0000115 -WARN missing_definition https://omim.org/entry/252030 IAO:0000115 WARN missing_definition https://omim.org/entry/252100 IAO:0000115 WARN missing_definition https://omim.org/entry/252150 IAO:0000115 WARN missing_definition https://omim.org/entry/252160 IAO:0000115 @@ -392917,7 +392628,6 @@ WARN missing_definition https://omim.org/entry/252500 IAO:0000115 WARN missing_definition https://omim.org/entry/252600 IAO:0000115 WARN missing_definition https://omim.org/entry/252605 IAO:0000115 WARN missing_definition https://omim.org/entry/252650 IAO:0000115 -WARN missing_definition https://omim.org/entry/252700 IAO:0000115 WARN missing_definition https://omim.org/entry/252800 IAO:0000115 WARN missing_definition https://omim.org/entry/252900 IAO:0000115 WARN missing_definition https://omim.org/entry/252920 IAO:0000115 @@ -392937,7 +392647,6 @@ WARN missing_definition https://omim.org/entry/253300 IAO:0000115 WARN missing_definition https://omim.org/entry/253310 IAO:0000115 WARN missing_definition https://omim.org/entry/253320 IAO:0000115 WARN missing_definition https://omim.org/entry/253400 IAO:0000115 -WARN missing_definition https://omim.org/entry/253500 IAO:0000115 WARN missing_definition https://omim.org/entry/253550 IAO:0000115 WARN missing_definition https://omim.org/entry/253590 IAO:0000115 WARN missing_definition https://omim.org/entry/253600 IAO:0000115 @@ -393127,7 +392836,6 @@ WARN missing_definition https://omim.org/entry/261600 IAO:0000115 WARN missing_definition https://omim.org/entry/261630 IAO:0000115 WARN missing_definition https://omim.org/entry/261640 IAO:0000115 WARN missing_definition https://omim.org/entry/261650 IAO:0000115 -WARN missing_definition https://omim.org/entry/261660 IAO:0000115 WARN missing_definition https://omim.org/entry/261670 IAO:0000115 WARN missing_definition https://omim.org/entry/261680 IAO:0000115 WARN missing_definition https://omim.org/entry/261740 IAO:0000115 @@ -393189,7 +392897,6 @@ WARN missing_definition https://omim.org/entry/264500 IAO:0000115 WARN missing_definition https://omim.org/entry/264600 IAO:0000115 WARN missing_definition https://omim.org/entry/264700 IAO:0000115 WARN missing_definition https://omim.org/entry/264800 IAO:0000115 -WARN missing_definition https://omim.org/entry/264810 IAO:0000115 WARN missing_definition https://omim.org/entry/264900 IAO:0000115 WARN missing_definition https://omim.org/entry/265000 IAO:0000115 WARN missing_definition https://omim.org/entry/265050 IAO:0000115 @@ -393420,7 +393127,6 @@ WARN missing_definition https://omim.org/entry/275370 IAO:0000115 WARN missing_definition https://omim.org/entry/275400 IAO:0000115 WARN missing_definition https://omim.org/entry/275450 IAO:0000115 WARN missing_definition https://omim.org/entry/275595 IAO:0000115 -WARN missing_definition https://omim.org/entry/275600 IAO:0000115 WARN missing_definition https://omim.org/entry/275630 IAO:0000115 WARN missing_definition https://omim.org/entry/275900 IAO:0000115 WARN missing_definition https://omim.org/entry/276000 IAO:0000115 @@ -393942,10 +393648,8 @@ WARN missing_definition https://omim.org/entry/300490 IAO:0000115 WARN missing_definition https://omim.org/entry/300491 IAO:0000115 WARN missing_definition https://omim.org/entry/300492 IAO:0000115 WARN missing_definition https://omim.org/entry/300493 IAO:0000115 -WARN missing_definition https://omim.org/entry/300494 IAO:0000115 WARN missing_definition https://omim.org/entry/300495 IAO:0000115 WARN missing_definition https://omim.org/entry/300496 IAO:0000115 -WARN missing_definition https://omim.org/entry/300497 IAO:0000115 WARN missing_definition https://omim.org/entry/300498 IAO:0000115 WARN missing_definition https://omim.org/entry/300499 IAO:0000115 WARN missing_definition https://omim.org/entry/300500 IAO:0000115 @@ -394324,7 +394028,6 @@ WARN missing_definition https://omim.org/entry/300896 IAO:0000115 WARN missing_definition https://omim.org/entry/300897 IAO:0000115 WARN missing_definition https://omim.org/entry/300898 IAO:0000115 WARN missing_definition https://omim.org/entry/300899 IAO:0000115 -WARN missing_definition https://omim.org/entry/300900 IAO:0000115 WARN missing_definition https://omim.org/entry/300901 IAO:0000115 WARN missing_definition https://omim.org/entry/300902 IAO:0000115 WARN missing_definition https://omim.org/entry/300903 IAO:0000115 @@ -394520,6 +394223,10 @@ WARN missing_definition https://omim.org/entry/301094 IAO:0000115 WARN missing_definition https://omim.org/entry/301095 IAO:0000115 WARN missing_definition https://omim.org/entry/301096 IAO:0000115 WARN missing_definition https://omim.org/entry/301097 IAO:0000115 +WARN missing_definition https://omim.org/entry/301098 IAO:0000115 +WARN missing_definition https://omim.org/entry/301099 IAO:0000115 +WARN missing_definition https://omim.org/entry/301101 IAO:0000115 +WARN missing_definition https://omim.org/entry/301102 IAO:0000115 WARN missing_definition https://omim.org/entry/301200 IAO:0000115 WARN missing_definition https://omim.org/entry/301201 IAO:0000115 WARN missing_definition https://omim.org/entry/301220 IAO:0000115 @@ -394539,7 +394246,6 @@ WARN missing_definition https://omim.org/entry/301840 IAO:0000115 WARN missing_definition https://omim.org/entry/301845 IAO:0000115 WARN missing_definition https://omim.org/entry/301850 IAO:0000115 WARN missing_definition https://omim.org/entry/301870 IAO:0000115 -WARN missing_definition https://omim.org/entry/301880 IAO:0000115 WARN missing_definition https://omim.org/entry/301900 IAO:0000115 WARN missing_definition https://omim.org/entry/301940 IAO:0000115 WARN missing_definition https://omim.org/entry/301950 IAO:0000115 @@ -394595,7 +394301,6 @@ WARN missing_definition https://omim.org/entry/304790 IAO:0000115 WARN missing_definition https://omim.org/entry/304800 IAO:0000115 WARN missing_definition https://omim.org/entry/304900 IAO:0000115 WARN missing_definition https://omim.org/entry/304950 IAO:0000115 -WARN missing_definition https://omim.org/entry/304990 IAO:0000115 WARN missing_definition https://omim.org/entry/305000 IAO:0000115 WARN missing_definition https://omim.org/entry/305100 IAO:0000115 WARN missing_definition https://omim.org/entry/305350 IAO:0000115 @@ -394611,7 +394316,6 @@ WARN missing_definition https://omim.org/entry/305450 IAO:0000115 WARN missing_definition https://omim.org/entry/305550 IAO:0000115 WARN missing_definition https://omim.org/entry/305600 IAO:0000115 WARN missing_definition https://omim.org/entry/305620 IAO:0000115 -WARN missing_definition https://omim.org/entry/305650 IAO:0000115 WARN missing_definition https://omim.org/entry/305660 IAO:0000115 WARN missing_definition https://omim.org/entry/305670 IAO:0000115 WARN missing_definition https://omim.org/entry/305690 IAO:0000115 @@ -394626,7 +394330,6 @@ WARN missing_definition https://omim.org/entry/306250 IAO:0000115 WARN missing_definition https://omim.org/entry/306300 IAO:0000115 WARN missing_definition https://omim.org/entry/306400 IAO:0000115 WARN missing_definition https://omim.org/entry/306480 IAO:0000115 -WARN missing_definition https://omim.org/entry/306600 IAO:0000115 WARN missing_definition https://omim.org/entry/306700 IAO:0000115 WARN missing_definition https://omim.org/entry/306800 IAO:0000115 WARN missing_definition https://omim.org/entry/306900 IAO:0000115 @@ -394651,7 +394354,6 @@ WARN missing_definition https://omim.org/entry/308050 IAO:0000115 WARN missing_definition https://omim.org/entry/308100 IAO:0000115 WARN missing_definition https://omim.org/entry/308200 IAO:0000115 WARN missing_definition https://omim.org/entry/308205 IAO:0000115 -WARN missing_definition https://omim.org/entry/308210 IAO:0000115 WARN missing_definition https://omim.org/entry/308220 IAO:0000115 WARN missing_definition https://omim.org/entry/308230 IAO:0000115 WARN missing_definition https://omim.org/entry/308240 IAO:0000115 @@ -394662,7 +394364,6 @@ WARN missing_definition https://omim.org/entry/308300 IAO:0000115 WARN missing_definition https://omim.org/entry/308350 IAO:0000115 WARN missing_definition https://omim.org/entry/308380 IAO:0000115 WARN missing_definition https://omim.org/entry/308385 IAO:0000115 -WARN missing_definition https://omim.org/entry/308400 IAO:0000115 WARN missing_definition https://omim.org/entry/308500 IAO:0000115 WARN missing_definition https://omim.org/entry/308600 IAO:0000115 WARN missing_definition https://omim.org/entry/308700 IAO:0000115 @@ -394752,7 +394453,6 @@ WARN missing_definition https://omim.org/entry/311400 IAO:0000115 WARN missing_definition https://omim.org/entry/311450 IAO:0000115 WARN missing_definition https://omim.org/entry/311510 IAO:0000115 WARN missing_definition https://omim.org/entry/311550 IAO:0000115 -WARN missing_definition https://omim.org/entry/311700 IAO:0000115 WARN missing_definition https://omim.org/entry/311770 IAO:0000115 WARN missing_definition https://omim.org/entry/311790 IAO:0000115 WARN missing_definition https://omim.org/entry/311800 IAO:0000115 @@ -394762,7 +394462,6 @@ WARN missing_definition https://omim.org/entry/311870 IAO:0000115 WARN missing_definition https://omim.org/entry/311895 IAO:0000115 WARN missing_definition https://omim.org/entry/311900 IAO:0000115 WARN missing_definition https://omim.org/entry/312000 IAO:0000115 -WARN missing_definition https://omim.org/entry/312030 IAO:0000115 WARN missing_definition https://omim.org/entry/312040 IAO:0000115 WARN missing_definition https://omim.org/entry/312060 IAO:0000115 WARN missing_definition https://omim.org/entry/312070 IAO:0000115 @@ -394779,7 +394478,6 @@ WARN missing_definition https://omim.org/entry/312210 IAO:0000115 WARN missing_definition https://omim.org/entry/312300 IAO:0000115 WARN missing_definition https://omim.org/entry/312420 IAO:0000115 WARN missing_definition https://omim.org/entry/312500 IAO:0000115 -WARN missing_definition https://omim.org/entry/312530 IAO:0000115 WARN missing_definition https://omim.org/entry/312550 IAO:0000115 WARN missing_definition https://omim.org/entry/312600 IAO:0000115 WARN missing_definition https://omim.org/entry/312610 IAO:0000115 @@ -394805,14 +394503,11 @@ WARN missing_definition https://omim.org/entry/313400 IAO:0000115 WARN missing_definition https://omim.org/entry/313420 IAO:0000115 WARN missing_definition https://omim.org/entry/313430 IAO:0000115 WARN missing_definition https://omim.org/entry/313440 IAO:0000115 -WARN missing_definition https://omim.org/entry/313450 IAO:0000115 -WARN missing_definition https://omim.org/entry/313460 IAO:0000115 WARN missing_definition https://omim.org/entry/313470 IAO:0000115 WARN missing_definition https://omim.org/entry/313475 IAO:0000115 WARN missing_definition https://omim.org/entry/313480 IAO:0000115 WARN missing_definition https://omim.org/entry/313490 IAO:0000115 WARN missing_definition https://omim.org/entry/313500 IAO:0000115 -WARN missing_definition https://omim.org/entry/313550 IAO:0000115 WARN missing_definition https://omim.org/entry/313650 IAO:0000115 WARN missing_definition https://omim.org/entry/313700 IAO:0000115 WARN missing_definition https://omim.org/entry/313850 IAO:0000115 @@ -394826,7 +394521,6 @@ WARN missing_definition https://omim.org/entry/314250 IAO:0000115 WARN missing_definition https://omim.org/entry/314300 IAO:0000115 WARN missing_definition https://omim.org/entry/314310 IAO:0000115 WARN missing_definition https://omim.org/entry/314320 IAO:0000115 -WARN missing_definition https://omim.org/entry/314350 IAO:0000115 WARN missing_definition https://omim.org/entry/314360 IAO:0000115 WARN missing_definition https://omim.org/entry/314370 IAO:0000115 WARN missing_definition https://omim.org/entry/314375 IAO:0000115 @@ -394846,16 +394540,12 @@ WARN missing_definition https://omim.org/entry/314705 IAO:0000115 WARN missing_definition https://omim.org/entry/314800 IAO:0000115 WARN missing_definition https://omim.org/entry/314850 IAO:0000115 WARN missing_definition https://omim.org/entry/314900 IAO:0000115 -WARN missing_definition https://omim.org/entry/314920 IAO:0000115 -WARN missing_definition https://omim.org/entry/314940 IAO:0000115 -WARN missing_definition https://omim.org/entry/314960 IAO:0000115 WARN missing_definition https://omim.org/entry/314980 IAO:0000115 WARN missing_definition https://omim.org/entry/314990 IAO:0000115 WARN missing_definition https://omim.org/entry/314993 IAO:0000115 WARN missing_definition https://omim.org/entry/314995 IAO:0000115 WARN missing_definition https://omim.org/entry/314997 IAO:0000115 WARN missing_definition https://omim.org/entry/314998 IAO:0000115 -WARN missing_definition https://omim.org/entry/400000 IAO:0000115 WARN missing_definition https://omim.org/entry/400003 IAO:0000115 WARN missing_definition https://omim.org/entry/400004 IAO:0000115 WARN missing_definition https://omim.org/entry/400005 IAO:0000115 @@ -394905,7 +394595,6 @@ WARN missing_definition https://omim.org/entry/402500 IAO:0000115 WARN missing_definition https://omim.org/entry/403000 IAO:0000115 WARN missing_definition https://omim.org/entry/410000 IAO:0000115 WARN missing_definition https://omim.org/entry/415000 IAO:0000115 -WARN missing_definition https://omim.org/entry/424000 IAO:0000115 WARN missing_definition https://omim.org/entry/424500 IAO:0000115 WARN missing_definition https://omim.org/entry/425000 IAO:0000115 WARN missing_definition https://omim.org/entry/425500 IAO:0000115 @@ -394937,7 +394626,6 @@ WARN missing_definition https://omim.org/entry/500014 IAO:0000115 WARN missing_definition https://omim.org/entry/500015 IAO:0000115 WARN missing_definition https://omim.org/entry/502000 IAO:0000115 WARN missing_definition https://omim.org/entry/502500 IAO:0000115 -WARN missing_definition https://omim.org/entry/510000 IAO:0000115 WARN missing_definition https://omim.org/entry/515000 IAO:0000115 WARN missing_definition https://omim.org/entry/516000 IAO:0000115 WARN missing_definition https://omim.org/entry/516001 IAO:0000115 @@ -395202,7 +394890,6 @@ WARN missing_definition https://omim.org/entry/600253 IAO:0000115 WARN missing_definition https://omim.org/entry/600257 IAO:0000115 WARN missing_definition https://omim.org/entry/600258 IAO:0000115 WARN missing_definition https://omim.org/entry/600259 IAO:0000115 -WARN missing_definition https://omim.org/entry/600261 IAO:0000115 WARN missing_definition https://omim.org/entry/600262 IAO:0000115 WARN missing_definition https://omim.org/entry/600263 IAO:0000115 WARN missing_definition https://omim.org/entry/600264 IAO:0000115 @@ -395247,7 +394934,6 @@ WARN missing_definition https://omim.org/entry/600305 IAO:0000115 WARN missing_definition https://omim.org/entry/600306 IAO:0000115 WARN missing_definition https://omim.org/entry/600307 IAO:0000115 WARN missing_definition https://omim.org/entry/600308 IAO:0000115 -WARN missing_definition https://omim.org/entry/600309 IAO:0000115 WARN missing_definition https://omim.org/entry/600310 IAO:0000115 WARN missing_definition https://omim.org/entry/600311 IAO:0000115 WARN missing_definition https://omim.org/entry/600312 IAO:0000115 @@ -395415,7 +395101,6 @@ WARN missing_definition https://omim.org/entry/600494 IAO:0000115 WARN missing_definition https://omim.org/entry/600495 IAO:0000115 WARN missing_definition https://omim.org/entry/600496 IAO:0000115 WARN missing_definition https://omim.org/entry/600497 IAO:0000115 -WARN missing_definition https://omim.org/entry/600499 IAO:0000115 WARN missing_definition https://omim.org/entry/600501 IAO:0000115 WARN missing_definition https://omim.org/entry/600502 IAO:0000115 WARN missing_definition https://omim.org/entry/600503 IAO:0000115 @@ -395511,7 +395196,6 @@ WARN missing_definition https://omim.org/entry/600598 IAO:0000115 WARN missing_definition https://omim.org/entry/600599 IAO:0000115 WARN missing_definition https://omim.org/entry/600600 IAO:0000115 WARN missing_definition https://omim.org/entry/600605 IAO:0000115 -WARN missing_definition https://omim.org/entry/600606 IAO:0000115 WARN missing_definition https://omim.org/entry/600607 IAO:0000115 WARN missing_definition https://omim.org/entry/600608 IAO:0000115 WARN missing_definition https://omim.org/entry/600609 IAO:0000115 @@ -395853,7 +395537,6 @@ WARN missing_definition https://omim.org/entry/600991 IAO:0000115 WARN missing_definition https://omim.org/entry/600993 IAO:0000115 WARN missing_definition https://omim.org/entry/600994 IAO:0000115 WARN missing_definition https://omim.org/entry/600995 IAO:0000115 -WARN missing_definition https://omim.org/entry/600996 IAO:0000115 WARN missing_definition https://omim.org/entry/600997 IAO:0000115 WARN missing_definition https://omim.org/entry/600998 IAO:0000115 WARN missing_definition https://omim.org/entry/600999 IAO:0000115 @@ -395898,7 +395581,6 @@ WARN missing_definition https://omim.org/entry/601045 IAO:0000115 WARN missing_definition https://omim.org/entry/601046 IAO:0000115 WARN missing_definition https://omim.org/entry/601047 IAO:0000115 WARN missing_definition https://omim.org/entry/601048 IAO:0000115 -WARN missing_definition https://omim.org/entry/601050 IAO:0000115 WARN missing_definition https://omim.org/entry/601051 IAO:0000115 WARN missing_definition https://omim.org/entry/601052 IAO:0000115 WARN missing_definition https://omim.org/entry/601053 IAO:0000115 @@ -395949,7 +395631,6 @@ WARN missing_definition https://omim.org/entry/601102 IAO:0000115 WARN missing_definition https://omim.org/entry/601103 IAO:0000115 WARN missing_definition https://omim.org/entry/601104 IAO:0000115 WARN missing_definition https://omim.org/entry/601105 IAO:0000115 -WARN missing_definition https://omim.org/entry/601106 IAO:0000115 WARN missing_definition https://omim.org/entry/601107 IAO:0000115 WARN missing_definition https://omim.org/entry/601109 IAO:0000115 WARN missing_definition https://omim.org/entry/601110 IAO:0000115 @@ -396008,7 +395689,6 @@ WARN missing_definition https://omim.org/entry/601165 IAO:0000115 WARN missing_definition https://omim.org/entry/601166 IAO:0000115 WARN missing_definition https://omim.org/entry/601167 IAO:0000115 WARN missing_definition https://omim.org/entry/601168 IAO:0000115 -WARN missing_definition https://omim.org/entry/601169 IAO:0000115 WARN missing_definition https://omim.org/entry/601170 IAO:0000115 WARN missing_definition https://omim.org/entry/601172 IAO:0000115 WARN missing_definition https://omim.org/entry/601175 IAO:0000115 @@ -396121,7 +395801,6 @@ WARN missing_definition https://omim.org/entry/601290 IAO:0000115 WARN missing_definition https://omim.org/entry/601291 IAO:0000115 WARN missing_definition https://omim.org/entry/601292 IAO:0000115 WARN missing_definition https://omim.org/entry/601293 IAO:0000115 -WARN missing_definition https://omim.org/entry/601294 IAO:0000115 WARN missing_definition https://omim.org/entry/601295 IAO:0000115 WARN missing_definition https://omim.org/entry/601296 IAO:0000115 WARN missing_definition https://omim.org/entry/601297 IAO:0000115 @@ -396802,7 +396481,6 @@ WARN missing_definition https://omim.org/entry/602024 IAO:0000115 WARN missing_definition https://omim.org/entry/602025 IAO:0000115 WARN missing_definition https://omim.org/entry/602026 IAO:0000115 WARN missing_definition https://omim.org/entry/602027 IAO:0000115 -WARN missing_definition https://omim.org/entry/602029 IAO:0000115 WARN missing_definition https://omim.org/entry/602030 IAO:0000115 WARN missing_definition https://omim.org/entry/602031 IAO:0000115 WARN missing_definition https://omim.org/entry/602032 IAO:0000115 @@ -396913,7 +396591,6 @@ WARN missing_definition https://omim.org/entry/602143 IAO:0000115 WARN missing_definition https://omim.org/entry/602144 IAO:0000115 WARN missing_definition https://omim.org/entry/602145 IAO:0000115 WARN missing_definition https://omim.org/entry/602146 IAO:0000115 -WARN missing_definition https://omim.org/entry/602147 IAO:0000115 WARN missing_definition https://omim.org/entry/602148 IAO:0000115 WARN missing_definition https://omim.org/entry/602149 IAO:0000115 WARN missing_definition https://omim.org/entry/602150 IAO:0000115 @@ -397203,7 +396880,6 @@ WARN missing_definition https://omim.org/entry/602451 IAO:0000115 WARN missing_definition https://omim.org/entry/602452 IAO:0000115 WARN missing_definition https://omim.org/entry/602453 IAO:0000115 WARN missing_definition https://omim.org/entry/602454 IAO:0000115 -WARN missing_definition https://omim.org/entry/602456 IAO:0000115 WARN missing_definition https://omim.org/entry/602457 IAO:0000115 WARN missing_definition https://omim.org/entry/602458 IAO:0000115 WARN missing_definition https://omim.org/entry/602459 IAO:0000115 @@ -398348,7 +398024,6 @@ WARN missing_definition https://omim.org/entry/603649 IAO:0000115 WARN missing_definition https://omim.org/entry/603650 IAO:0000115 WARN missing_definition https://omim.org/entry/603651 IAO:0000115 WARN missing_definition https://omim.org/entry/603652 IAO:0000115 -WARN missing_definition https://omim.org/entry/603653 IAO:0000115 WARN missing_definition https://omim.org/entry/603654 IAO:0000115 WARN missing_definition https://omim.org/entry/603656 IAO:0000115 WARN missing_definition https://omim.org/entry/603657 IAO:0000115 @@ -398481,7 +398156,6 @@ WARN missing_definition https://omim.org/entry/603787 IAO:0000115 WARN missing_definition https://omim.org/entry/603788 IAO:0000115 WARN missing_definition https://omim.org/entry/603790 IAO:0000115 WARN missing_definition https://omim.org/entry/603791 IAO:0000115 -WARN missing_definition https://omim.org/entry/603793 IAO:0000115 WARN missing_definition https://omim.org/entry/603794 IAO:0000115 WARN missing_definition https://omim.org/entry/603795 IAO:0000115 WARN missing_definition https://omim.org/entry/603796 IAO:0000115 @@ -398669,11 +398343,9 @@ WARN missing_definition https://omim.org/entry/603982 IAO:0000115 WARN missing_definition https://omim.org/entry/603983 IAO:0000115 WARN missing_definition https://omim.org/entry/603984 IAO:0000115 WARN missing_definition https://omim.org/entry/603985 IAO:0000115 -WARN missing_definition https://omim.org/entry/603986 IAO:0000115 WARN missing_definition https://omim.org/entry/603987 IAO:0000115 WARN missing_definition https://omim.org/entry/603988 IAO:0000115 WARN missing_definition https://omim.org/entry/603989 IAO:0000115 -WARN missing_definition https://omim.org/entry/603990 IAO:0000115 WARN missing_definition https://omim.org/entry/603991 IAO:0000115 WARN missing_definition https://omim.org/entry/603992 IAO:0000115 WARN missing_definition https://omim.org/entry/603993 IAO:0000115 @@ -398688,8 +398360,6 @@ WARN missing_definition https://omim.org/entry/604001 IAO:0000115 WARN missing_definition https://omim.org/entry/604002 IAO:0000115 WARN missing_definition https://omim.org/entry/604003 IAO:0000115 WARN missing_definition https://omim.org/entry/604004 IAO:0000115 -WARN missing_definition https://omim.org/entry/604006 IAO:0000115 -WARN missing_definition https://omim.org/entry/604007 IAO:0000115 WARN missing_definition https://omim.org/entry/604008 IAO:0000115 WARN missing_definition https://omim.org/entry/604009 IAO:0000115 WARN missing_definition https://omim.org/entry/604010 IAO:0000115 @@ -399000,12 +398670,6 @@ WARN missing_definition https://omim.org/entry/604334 IAO:0000115 WARN missing_definition https://omim.org/entry/604335 IAO:0000115 WARN missing_definition https://omim.org/entry/604336 IAO:0000115 WARN missing_definition https://omim.org/entry/604337 IAO:0000115 -WARN missing_definition https://omim.org/entry/604338 IAO:0000115 -WARN missing_definition https://omim.org/entry/604339 IAO:0000115 -WARN missing_definition https://omim.org/entry/604340 IAO:0000115 -WARN missing_definition https://omim.org/entry/604341 IAO:0000115 -WARN missing_definition https://omim.org/entry/604342 IAO:0000115 -WARN missing_definition https://omim.org/entry/604343 IAO:0000115 WARN missing_definition https://omim.org/entry/604344 IAO:0000115 WARN missing_definition https://omim.org/entry/604345 IAO:0000115 WARN missing_definition https://omim.org/entry/604346 IAO:0000115 @@ -399802,7 +399466,6 @@ WARN missing_definition https://omim.org/entry/605173 IAO:0000115 WARN missing_definition https://omim.org/entry/605174 IAO:0000115 WARN missing_definition https://omim.org/entry/605175 IAO:0000115 WARN missing_definition https://omim.org/entry/605176 IAO:0000115 -WARN missing_definition https://omim.org/entry/605177 IAO:0000115 WARN missing_definition https://omim.org/entry/605178 IAO:0000115 WARN missing_definition https://omim.org/entry/605179 IAO:0000115 WARN missing_definition https://omim.org/entry/605180 IAO:0000115 @@ -402826,7 +402489,6 @@ WARN missing_definition https://omim.org/entry/608293 IAO:0000115 WARN missing_definition https://omim.org/entry/608294 IAO:0000115 WARN missing_definition https://omim.org/entry/608295 IAO:0000115 WARN missing_definition https://omim.org/entry/608296 IAO:0000115 -WARN missing_definition https://omim.org/entry/608297 IAO:0000115 WARN missing_definition https://omim.org/entry/608298 IAO:0000115 WARN missing_definition https://omim.org/entry/608299 IAO:0000115 WARN missing_definition https://omim.org/entry/608300 IAO:0000115 @@ -403957,7 +403619,6 @@ WARN missing_definition https://omim.org/entry/609452 IAO:0000115 WARN missing_definition https://omim.org/entry/609453 IAO:0000115 WARN missing_definition https://omim.org/entry/609454 IAO:0000115 WARN missing_definition https://omim.org/entry/609455 IAO:0000115 -WARN missing_definition https://omim.org/entry/609456 IAO:0000115 WARN missing_definition https://omim.org/entry/609457 IAO:0000115 WARN missing_definition https://omim.org/entry/609458 IAO:0000115 WARN missing_definition https://omim.org/entry/609459 IAO:0000115 @@ -404323,7 +403984,6 @@ WARN missing_definition https://omim.org/entry/609826 IAO:0000115 WARN missing_definition https://omim.org/entry/609827 IAO:0000115 WARN missing_definition https://omim.org/entry/609828 IAO:0000115 WARN missing_definition https://omim.org/entry/609829 IAO:0000115 -WARN missing_definition https://omim.org/entry/609830 IAO:0000115 WARN missing_definition https://omim.org/entry/609831 IAO:0000115 WARN missing_definition https://omim.org/entry/609832 IAO:0000115 WARN missing_definition https://omim.org/entry/609833 IAO:0000115 @@ -410380,7 +410040,6 @@ WARN missing_definition https://omim.org/entry/615967 IAO:0000115 WARN missing_definition https://omim.org/entry/615968 IAO:0000115 WARN missing_definition https://omim.org/entry/615969 IAO:0000115 WARN missing_definition https://omim.org/entry/615970 IAO:0000115 -WARN missing_definition https://omim.org/entry/615971 IAO:0000115 WARN missing_definition https://omim.org/entry/615972 IAO:0000115 WARN missing_definition https://omim.org/entry/615973 IAO:0000115 WARN missing_definition https://omim.org/entry/615974 IAO:0000115 @@ -410427,7 +410086,6 @@ WARN missing_definition https://omim.org/entry/616014 IAO:0000115 WARN missing_definition https://omim.org/entry/616015 IAO:0000115 WARN missing_definition https://omim.org/entry/616016 IAO:0000115 WARN missing_definition https://omim.org/entry/616017 IAO:0000115 -WARN missing_definition https://omim.org/entry/616018 IAO:0000115 WARN missing_definition https://omim.org/entry/616019 IAO:0000115 WARN missing_definition https://omim.org/entry/616020 IAO:0000115 WARN missing_definition https://omim.org/entry/616021 IAO:0000115 @@ -412832,7 +412490,6 @@ WARN missing_definition https://omim.org/entry/618424 IAO:0000115 WARN missing_definition https://omim.org/entry/618425 IAO:0000115 WARN missing_definition https://omim.org/entry/618426 IAO:0000115 WARN missing_definition https://omim.org/entry/618427 IAO:0000115 -WARN missing_definition https://omim.org/entry/618428 IAO:0000115 WARN missing_definition https://omim.org/entry/618429 IAO:0000115 WARN missing_definition https://omim.org/entry/618430 IAO:0000115 WARN missing_definition https://omim.org/entry/618431 IAO:0000115 @@ -414646,12 +414303,58 @@ WARN missing_definition https://omim.org/entry/620242 IAO:0000115 WARN missing_definition https://omim.org/entry/620243 IAO:0000115 WARN missing_definition https://omim.org/entry/620244 IAO:0000115 WARN missing_definition https://omim.org/entry/620245 IAO:0000115 +WARN missing_definition https://omim.org/entry/620246 IAO:0000115 WARN missing_definition https://omim.org/entry/620247 IAO:0000115 WARN missing_definition https://omim.org/entry/620248 IAO:0000115 +WARN missing_definition https://omim.org/entry/620249 IAO:0000115 +WARN missing_definition https://omim.org/entry/620250 IAO:0000115 WARN missing_definition https://omim.org/entry/620251 IAO:0000115 WARN missing_definition https://omim.org/entry/620252 IAO:0000115 WARN missing_definition https://omim.org/entry/620253 IAO:0000115 WARN missing_definition https://omim.org/entry/620254 IAO:0000115 +WARN missing_definition https://omim.org/entry/620255 IAO:0000115 +WARN missing_definition https://omim.org/entry/620256 IAO:0000115 +WARN missing_definition https://omim.org/entry/620257 IAO:0000115 +WARN missing_definition https://omim.org/entry/620258 IAO:0000115 +WARN missing_definition https://omim.org/entry/620259 IAO:0000115 +WARN missing_definition https://omim.org/entry/620260 IAO:0000115 +WARN missing_definition https://omim.org/entry/620261 IAO:0000115 +WARN missing_definition https://omim.org/entry/620262 IAO:0000115 +WARN missing_definition https://omim.org/entry/620263 IAO:0000115 +WARN missing_definition https://omim.org/entry/620264 IAO:0000115 +WARN missing_definition https://omim.org/entry/620265 IAO:0000115 +WARN missing_definition https://omim.org/entry/620266 IAO:0000115 +WARN missing_definition https://omim.org/entry/620267 IAO:0000115 +WARN missing_definition https://omim.org/entry/620268 IAO:0000115 +WARN missing_definition https://omim.org/entry/620269 IAO:0000115 +WARN missing_definition https://omim.org/entry/620270 IAO:0000115 +WARN missing_definition https://omim.org/entry/620271 IAO:0000115 +WARN missing_definition https://omim.org/entry/620272 IAO:0000115 +WARN missing_definition https://omim.org/entry/620273 IAO:0000115 +WARN missing_definition https://omim.org/entry/620274 IAO:0000115 +WARN missing_definition https://omim.org/entry/620275 IAO:0000115 +WARN missing_definition https://omim.org/entry/620276 IAO:0000115 +WARN missing_definition https://omim.org/entry/620277 IAO:0000115 +WARN missing_definition https://omim.org/entry/620278 IAO:0000115 +WARN missing_definition https://omim.org/entry/620279 IAO:0000115 +WARN missing_definition https://omim.org/entry/620280 IAO:0000115 +WARN missing_definition https://omim.org/entry/620281 IAO:0000115 +WARN missing_definition https://omim.org/entry/620282 IAO:0000115 +WARN missing_definition https://omim.org/entry/620283 IAO:0000115 +WARN missing_definition https://omim.org/entry/620284 IAO:0000115 +WARN missing_definition https://omim.org/entry/620285 IAO:0000115 +WARN missing_definition https://omim.org/entry/620286 IAO:0000115 +WARN missing_definition https://omim.org/entry/620287 IAO:0000115 +WARN missing_definition https://omim.org/entry/620288 IAO:0000115 +WARN missing_definition https://omim.org/entry/620289 IAO:0000115 +WARN missing_definition https://omim.org/entry/620290 IAO:0000115 +WARN missing_definition https://omim.org/entry/620291 IAO:0000115 +WARN missing_definition https://omim.org/entry/620292 IAO:0000115 +WARN missing_definition https://omim.org/entry/620293 IAO:0000115 +WARN missing_definition https://omim.org/entry/620294 IAO:0000115 +WARN missing_definition https://omim.org/entry/620295 IAO:0000115 +WARN missing_definition https://omim.org/entry/620297 IAO:0000115 +WARN missing_definition https://omim.org/entry/620298 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/100009675 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/100034700 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/100034703 IAO:0000115 @@ -415516,7 +415219,6 @@ WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619404 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619405 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619406 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619408 IAO:0000115 -WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619409 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619410 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619411 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/619468 IAO:0000115 @@ -415555,7 +415257,6 @@ WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/64851 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/65014 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/65076 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/65077 IAO:0000115 -WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/65245 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/652963 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/664728 IAO:0000115 WARN missing_definition https://www.ncbi.nlm.nih.gov/gene/664780 IAO:0000115 @@ -415755,6 +415456,7 @@ WARN missing_definition https://www.omim.org/phenotypicSeries/PS115210 IAO:00001 WARN missing_definition https://www.omim.org/phenotypicSeries/PS115430 IAO:0000115 WARN missing_definition https://www.omim.org/phenotypicSeries/PS116200 IAO:0000115 WARN missing_definition https://www.omim.org/phenotypicSeries/PS116860 IAO:0000115 +WARN missing_definition https://www.omim.org/phenotypicSeries/PS117000 IAO:0000115 WARN missing_definition https://www.omim.org/phenotypicSeries/PS118100 IAO:0000115 WARN missing_definition https://www.omim.org/phenotypicSeries/PS118220 IAO:0000115 WARN missing_definition https://www.omim.org/phenotypicSeries/PS118450 IAO:0000115 @@ -421643,6 +421345,121 @@ WARN missing_obsolete_label http://www.orpha.net/ORDO/Orphanet_C046 rdfs:label n WARN missing_obsolete_label http://www.orpha.net/ORDO/Orphanet_C047 rdfs:label non rare group of disorder WARN missing_obsolete_label http://www.orpha.net/ORDO/Orphanet_C048 rdfs:label non rare disorder WARN missing_obsolete_label http://www.orpha.net/ORDO/Orphanet_C049 rdfs:label non rare subtype of disorder +WARN missing_obsolete_label https://omim.org/entry/102570 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/102920 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/102930 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/102940 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/102970 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/107253 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/108400 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/117200 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/121000 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/124580 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/125510 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/126440 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/132860 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/133710 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/133730 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/133740 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/136670 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/138391 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/139220 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/139230 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/142420 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/142870 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/143070 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/143080 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/147410 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/147490 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/147684 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/151550 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/155960 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/163900 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/164710 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/164830 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/170950 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/171700 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/177860 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/179715 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/180330 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/180930 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/180940 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/183250 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/185450 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/185595 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/186690 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/186920 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/192070 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/193675 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/194520 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/194530 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/200930 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/204400 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/211420 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/212600 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/212700 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/221000 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/225360 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/231400 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/231610 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/239400 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/240100 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/242800 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/245500 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/249800 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/252030 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/253500 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/261660 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/264810 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/275600 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/300900 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/301880 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/304990 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/305650 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/306600 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/308210 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/308400 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/311700 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/312030 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/312530 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/313450 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/313460 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/313550 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/314350 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/314920 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/314940 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/314960 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/400000 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/424000 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/510000 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/600261 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/600499 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/600606 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/601050 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/601106 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/601169 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/601294 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/602029 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/602147 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/602456 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/603653 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/603793 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/603986 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/603990 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604006 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604007 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604338 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604339 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604340 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604341 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604342 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/604343 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/605177 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/608297 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/609830 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/615971 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/616018 rdfs:label removed from database +WARN missing_obsolete_label https://omim.org/entry/618428 rdfs:label removed from database INFO lowercase_definition http://www.orpha.net/ORDO/Orphanet_79282 IAO:0000115 cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.@en INFO lowercase_definition http://www.orpha.net/ORDO/Orphanet_79283 IAO:0000115 cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.@en INFO lowercase_definition http://www.orpha.net/ORDO/Orphanet_79284 IAO:0000115 cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.@en @@ -423223,16 +423040,11 @@ INFO missing_superclass https://omim.org/entry/102370 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102520 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/102570 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102660 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102699 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/102900 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/102920 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/102930 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/102940 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/102970 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/103050 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/103100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/103200 rdfs:subClassOf @@ -423281,7 +423093,6 @@ INFO missing_superclass https://omim.org/entry/106900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/106990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/106995 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/107100 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/107253 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/107254 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/107260 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/107290 rdfs:subClassOf @@ -423304,7 +423115,6 @@ INFO missing_superclass https://omim.org/entry/108100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108340 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108390 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/108400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/108760 rdfs:subClassOf @@ -423431,8 +423241,6 @@ INFO missing_superclass https://omim.org/entry/116850 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/116870 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/116920 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/116950 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/117000 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/117200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/117300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/117550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/117600 rdfs:subClassOf @@ -423487,7 +423295,6 @@ INFO missing_superclass https://omim.org/entry/120440 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/120450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/120500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/120790 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/121000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/121070 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/121270 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/121300 rdfs:subClassOf @@ -423534,7 +423341,6 @@ INFO missing_superclass https://omim.org/entry/124300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/124480 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/124490 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/124500 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/124580 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/124700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/124950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125000 rdfs:subClassOf @@ -423553,7 +423359,6 @@ INFO missing_superclass https://omim.org/entry/125440 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125460 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125490 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125500 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/125510 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125540 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/125550 rdfs:subClassOf @@ -423584,7 +423389,6 @@ INFO missing_superclass https://omim.org/entry/126320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126370 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126390 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126410 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/126440 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/126600 rdfs:subClassOf @@ -423659,7 +423463,6 @@ INFO missing_superclass https://omim.org/entry/132600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/132700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/132800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/132850 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/132860 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/132990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133020 rdfs:subClassOf @@ -423676,9 +423479,6 @@ INFO missing_superclass https://omim.org/entry/133690 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133701 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133705 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/133710 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/133730 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/133740 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/133900 rdfs:subClassOf @@ -423721,7 +423521,6 @@ INFO missing_superclass https://omim.org/entry/136600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136620 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136640 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136660 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/136670 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136680 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/136880 rdfs:subClassOf @@ -423756,7 +423555,6 @@ INFO missing_superclass https://omim.org/entry/138070 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138110 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138277 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138340 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/138391 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138710 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/138770 rdfs:subClassOf @@ -423767,8 +423565,6 @@ INFO missing_superclass https://omim.org/entry/138930 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139210 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/139220 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/139230 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139280 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139290 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/139300 rdfs:subClassOf @@ -423801,7 +423597,6 @@ INFO missing_superclass https://omim.org/entry/142330 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142395 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142400 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/142420 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142625 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142630 rdfs:subClassOf @@ -423810,13 +423605,10 @@ INFO missing_superclass https://omim.org/entry/142669 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142680 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142730 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142770 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/142870 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/142900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143020 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143050 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/143070 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/143080 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143095 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/143200 rdfs:subClassOf @@ -423885,17 +423677,14 @@ INFO missing_superclass https://omim.org/entry/147320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147330 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147400 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/147410 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147421 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147430 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147480 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/147490 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147540 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147560 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147610 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147630 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/147684 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147710 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/147770 rdfs:subClassOf @@ -423947,7 +423736,6 @@ INFO missing_superclass https://omim.org/entry/151380 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151500 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/151550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151590 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151610 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/151620 rdfs:subClassOf @@ -424002,7 +423790,6 @@ INFO missing_superclass https://omim.org/entry/155720 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/155755 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/155770 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/155950 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/155960 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/155980 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/156000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/156190 rdfs:subClassOf @@ -424103,7 +423890,6 @@ INFO missing_superclass https://omim.org/entry/163400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/163600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/163700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/163850 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/163900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164150 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164170 rdfs:subClassOf @@ -424117,8 +423903,6 @@ INFO missing_superclass https://omim.org/entry/164230 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164330 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164680 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/164710 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/164830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/164900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/165000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/165098 rdfs:subClassOf @@ -424200,7 +423984,6 @@ INFO missing_superclass https://omim.org/entry/170600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/170650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/170700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/170900 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/170950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/170980 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/170990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/171000 rdfs:subClassOf @@ -424211,7 +423994,6 @@ INFO missing_superclass https://omim.org/entry/171420 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/171450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/171480 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/171660 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/171700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/172110 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/172150 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/172290 rdfs:subClassOf @@ -424285,7 +424067,6 @@ INFO missing_superclass https://omim.org/entry/177735 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/177750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/177800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/177850 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/177860 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/177980 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/177990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/178000 rdfs:subClassOf @@ -424314,7 +424095,6 @@ INFO missing_superclass https://omim.org/entry/179613 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179620 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179700 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/179715 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179840 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/179900 rdfs:subClassOf @@ -424325,7 +424105,6 @@ INFO missing_superclass https://omim.org/entry/180200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180210 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180270 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180295 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/180330 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180360 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180550 rdfs:subClassOf @@ -424336,8 +424115,6 @@ INFO missing_superclass https://omim.org/entry/180800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180870 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180920 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/180930 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/180940 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/180950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181010 rdfs:subClassOf @@ -424349,7 +424126,6 @@ INFO missing_superclass https://omim.org/entry/181270 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181405 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/181430 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181440 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/181500 rdfs:subClassOf @@ -424387,7 +424163,6 @@ INFO missing_superclass https://omim.org/entry/182990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183020 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183050 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183100 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/183250 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/183400 rdfs:subClassOf @@ -424419,12 +424194,10 @@ INFO missing_superclass https://omim.org/entry/185070 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185120 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185300 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/185450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185460 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185480 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185540 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/185595 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185610 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/185650 rdfs:subClassOf @@ -424441,12 +424214,10 @@ INFO missing_superclass https://omim.org/entry/186570 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186575 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186580 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186600 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/186690 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186850 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186890 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/186920 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/186950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/187000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/187030 rdfs:subClassOf @@ -424539,7 +424310,6 @@ INFO missing_superclass https://omim.org/entry/191900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/191950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/192000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/192050 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/192070 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/192100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/192200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/192300 rdfs:subClassOf @@ -424567,7 +424337,6 @@ INFO missing_superclass https://omim.org/entry/193400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/193450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/193520 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/193530 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/193675 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194080 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194200 rdfs:subClassOf @@ -424580,8 +424349,6 @@ INFO missing_superclass https://omim.org/entry/194400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194470 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194490 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/194520 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/194530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/194630 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200110 rdfs:subClassOf @@ -424593,7 +424360,6 @@ INFO missing_superclass https://omim.org/entry/200400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200900 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/200930 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200970 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/200980 rdfs:subClassOf @@ -424639,7 +424405,6 @@ INFO missing_superclass https://omim.org/entry/203750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/203760 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/203800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/204110 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/204400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/204730 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/204750 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/204800 rdfs:subClassOf @@ -424731,7 +424496,6 @@ INFO missing_superclass https://omim.org/entry/211369 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211370 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211380 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211390 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/211420 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211480 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/211500 rdfs:subClassOf @@ -424763,8 +424527,6 @@ INFO missing_superclass https://omim.org/entry/212360 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212540 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212550 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/212600 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/212700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212710 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212780 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/212790 rdfs:subClassOf @@ -424878,7 +424640,6 @@ INFO missing_superclass https://omim.org/entry/220220 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/220300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/220500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/220900 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/221000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/221200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/221300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/221320 rdfs:subClassOf @@ -424938,7 +424699,6 @@ INFO missing_superclass https://omim.org/entry/225200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225280 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225290 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225310 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/225360 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225740 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/225755 rdfs:subClassOf @@ -425028,10 +424788,8 @@ INFO missing_superclass https://omim.org/entry/231080 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231095 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231300 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/231400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231550 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/231610 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231630 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231670 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/231680 rdfs:subClassOf @@ -425112,7 +424870,6 @@ INFO missing_superclass https://omim.org/entry/238950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/238970 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239199 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239350 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/239400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239510 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239710 rdfs:subClassOf @@ -425122,7 +424879,6 @@ INFO missing_superclass https://omim.org/entry/239840 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239850 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/239900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/240000 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/240100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/240150 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/240200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/240300 rdfs:subClassOf @@ -425155,7 +424911,6 @@ INFO missing_superclass https://omim.org/entry/242600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242670 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242680 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242700 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/242800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242840 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242850 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/242870 rdfs:subClassOf @@ -425196,7 +424951,6 @@ INFO missing_superclass https://omim.org/entry/245200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245340 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245450 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/245500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245552 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/245570 rdfs:subClassOf @@ -425264,7 +425018,6 @@ INFO missing_superclass https://omim.org/entry/249660 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/249670 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/249700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/249710 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/249800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/249900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/250100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/250215 rdfs:subClassOf @@ -425303,11 +425056,9 @@ INFO missing_superclass https://omim.org/entry/251800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/251900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/251945 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/251950 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/252030 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/252250 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/252300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/252320 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/252700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/252940 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253240 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253250 rdfs:subClassOf @@ -425317,7 +425068,6 @@ INFO missing_superclass https://omim.org/entry/253290 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253400 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/253500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/253590 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/254000 rdfs:subClassOf @@ -425338,10 +425088,7 @@ INFO missing_superclass https://omim.org/entry/255110 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255120 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255125 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255140 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/255160 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255300 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/255310 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/255320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255710 rdfs:subClassOf @@ -425349,7 +425096,6 @@ INFO missing_superclass https://omim.org/entry/255800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255960 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/255990 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/255995 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/256000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/256120 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/256150 rdfs:subClassOf @@ -425422,7 +425168,6 @@ INFO missing_superclass https://omim.org/entry/260530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260540 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260555 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260565 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/260570 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260660 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/260800 rdfs:subClassOf @@ -425444,7 +425189,6 @@ INFO missing_superclass https://omim.org/entry/261600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261630 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261640 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261650 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/261660 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261680 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/261990 rdfs:subClassOf @@ -425493,7 +425237,6 @@ INFO missing_superclass https://omim.org/entry/264500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/264600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/264700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/264800 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/264810 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/265000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/265100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/265140 rdfs:subClassOf @@ -425673,7 +425416,6 @@ INFO missing_superclass https://omim.org/entry/275370 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/275400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/275450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/275595 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/275600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/275630 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/276100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/276200 rdfs:subClassOf @@ -425785,7 +425527,6 @@ INFO missing_superclass https://omim.org/entry/300855 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300863 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300888 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300895 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/300900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300908 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300909 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/300910 rdfs:subClassOf @@ -425823,7 +425564,6 @@ INFO missing_superclass https://omim.org/entry/301815 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/301830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/301840 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/301850 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/301880 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/301940 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/301950 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/302000 rdfs:subClassOf @@ -425857,17 +425597,14 @@ INFO missing_superclass https://omim.org/entry/304790 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/304800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/304900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/304950 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/304990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305600 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/305650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305690 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/305920 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/306300 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/306600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/306700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/306800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/306900 rdfs:subClassOf @@ -425883,13 +425620,11 @@ INFO missing_superclass https://omim.org/entry/307830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308050 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308200 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/308210 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308220 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308250 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308280 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308290 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308300 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/308400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/308750 rdfs:subClassOf @@ -425937,11 +425672,9 @@ INFO missing_superclass https://omim.org/entry/311350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/311400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/311450 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/311510 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/311700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/311895 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/311900 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312000 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/312030 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312060 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312150 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312190 rdfs:subClassOf @@ -425949,7 +425682,6 @@ INFO missing_superclass https://omim.org/entry/312200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312210 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312300 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312500 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/312530 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312750 rdfs:subClassOf @@ -425960,17 +425692,13 @@ INFO missing_superclass https://omim.org/entry/312870 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/312910 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/313200 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/313400 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/313450 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/313460 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/313480 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/313490 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/313550 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314050 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314100 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314240 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314320 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/314350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314360 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314380 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314390 rdfs:subClassOf @@ -425983,13 +425711,8 @@ INFO missing_superclass https://omim.org/entry/314600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314700 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314800 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/314900 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/314920 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/314940 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/314960 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/400000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/400021 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/400045 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/424000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/424500 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/475000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/489000 rdfs:subClassOf @@ -426010,7 +425733,6 @@ INFO missing_superclass https://omim.org/entry/500014 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/500015 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/502000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/502500 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/510000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/515000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/520000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/520100 rdfs:subClassOf @@ -426055,7 +425777,6 @@ INFO missing_superclass https://omim.org/entry/600195 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600231 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600251 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600252 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/600261 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600263 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600268 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600269 rdfs:subClassOf @@ -426084,13 +425805,11 @@ INFO missing_superclass https://omim.org/entry/600459 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600460 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600461 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600496 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/600499 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600501 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600546 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600559 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600561 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600598 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/600606 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600627 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600628 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/600643 rdfs:subClassOf @@ -426134,7 +425853,6 @@ INFO missing_superclass https://omim.org/entry/601005 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601016 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601027 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601039 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/601050 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601075 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601076 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601079 rdfs:subClassOf @@ -426144,7 +425862,6 @@ INFO missing_superclass https://omim.org/entry/601088 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601095 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601096 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601104 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/601106 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601127 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601136 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601138 rdfs:subClassOf @@ -426153,7 +425870,6 @@ INFO missing_superclass https://omim.org/entry/601160 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601161 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601163 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601165 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/601169 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601170 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601187 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601200 rdfs:subClassOf @@ -426166,7 +425882,6 @@ INFO missing_superclass https://omim.org/entry/601223 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601230 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601238 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601283 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/601294 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601308 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601315 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601319 rdfs:subClassOf @@ -426256,7 +425971,6 @@ INFO missing_superclass https://omim.org/entry/601976 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/601979 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602011 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602025 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/602029 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602066 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602068 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602071 rdfs:subClassOf @@ -426267,7 +425981,6 @@ INFO missing_superclass https://omim.org/entry/602089 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602107 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602111 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602114 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/602147 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602152 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602196 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602197 rdfs:subClassOf @@ -426283,7 +425996,6 @@ INFO missing_superclass https://omim.org/entry/602361 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602398 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602418 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602440 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/602456 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602471 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602472 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602473 rdfs:subClassOf @@ -426312,7 +426024,6 @@ INFO missing_superclass https://omim.org/entry/602596 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602611 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602612 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602613 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/602771 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602782 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602849 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/602994 rdfs:subClassOf @@ -426358,7 +426069,6 @@ INFO missing_superclass https://omim.org/entry/603600 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603641 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603642 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603643 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/603653 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603656 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603669 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603670 rdfs:subClassOf @@ -426371,7 +426081,6 @@ INFO missing_superclass https://omim.org/entry/603739 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603740 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603744 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603786 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/603793 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603794 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603802 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603806 rdfs:subClassOf @@ -426386,10 +426095,8 @@ INFO missing_superclass https://omim.org/entry/603956 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603976 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603979 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603985 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/603986 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603987 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603988 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/603990 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603991 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603992 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603993 rdfs:subClassOf @@ -426397,15 +426104,12 @@ INFO missing_superclass https://omim.org/entry/603995 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603997 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/603998 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604000 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604006 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604007 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604091 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604093 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604117 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604121 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604129 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604131 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604154 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604168 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604172 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604173 rdfs:subClassOf @@ -426428,12 +426132,6 @@ INFO missing_superclass https://omim.org/entry/604315 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604320 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604324 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604335 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604338 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604339 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604340 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604341 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604342 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/604343 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604363 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604369 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/604380 rdfs:subClassOf @@ -426479,7 +426177,6 @@ INFO missing_superclass https://omim.org/entry/605074 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605105 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605115 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605130 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/605177 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605218 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605233 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605274 rdfs:subClassOf @@ -426492,7 +426189,6 @@ INFO missing_superclass https://omim.org/entry/605499 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605594 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605618 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605627 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/605637 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605670 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605672 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/605676 rdfs:subClassOf @@ -426664,9 +426360,7 @@ INFO missing_superclass https://omim.org/entry/608278 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608279 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608281 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608290 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/608297 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608320 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/608358 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608361 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608389 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/608390 rdfs:subClassOf @@ -426782,7 +426476,6 @@ INFO missing_superclass https://omim.org/entry/609808 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609812 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609814 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609817 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/609830 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609887 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609889 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/609924 rdfs:subClassOf @@ -426877,7 +426570,6 @@ INFO missing_superclass https://omim.org/entry/611555 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611650 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611694 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611702 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/611705 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611717 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611721 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/611722 rdfs:subClassOf @@ -426945,7 +426637,6 @@ INFO missing_superclass https://omim.org/entry/612462 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612463 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612520 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612522 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/612540 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612542 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612556 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/612560 rdfs:subClassOf @@ -427159,7 +426850,6 @@ INFO missing_superclass https://omim.org/entry/614389 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614390 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614391 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614395 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/614399 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614400 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614401 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/614407 rdfs:subClassOf @@ -427318,12 +427008,10 @@ INFO missing_superclass https://omim.org/entry/615961 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/615962 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/615969 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/615970 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/615971 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/615999 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616000 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616004 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616007 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/616018 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616029 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616033 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/616034 rdfs:subClassOf @@ -427641,12 +427329,10 @@ INFO missing_superclass https://omim.org/entry/618392 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618398 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618406 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618412 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618414 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618416 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618418 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618419 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618425 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618428 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618430 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618440 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618443 rdfs:subClassOf @@ -427668,7 +427354,6 @@ INFO missing_superclass https://omim.org/entry/618501 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618505 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618511 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618512 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618524 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618527 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618541 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618547 rdfs:subClassOf @@ -427678,7 +427363,6 @@ INFO missing_superclass https://omim.org/entry/618569 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618571 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618572 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618577 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618578 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618590 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618598 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618603 rdfs:subClassOf @@ -427694,7 +427378,6 @@ INFO missing_superclass https://omim.org/entry/618637 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618651 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618652 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618653 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618654 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618659 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618660 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618672 rdfs:subClassOf @@ -427736,8 +427419,6 @@ INFO missing_superclass https://omim.org/entry/618808 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618810 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618820 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618821 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618822 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618823 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618828 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618829 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618832 rdfs:subClassOf @@ -427775,7 +427456,6 @@ INFO missing_superclass https://omim.org/entry/618970 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618971 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618973 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618974 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/618975 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618979 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618983 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/618998 rdfs:subClassOf @@ -427865,7 +427545,6 @@ INFO missing_superclass https://omim.org/entry/619345 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619350 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619352 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619354 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/619355 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619356 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619373 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619375 rdfs:subClassOf @@ -427969,7 +427648,6 @@ INFO missing_superclass https://omim.org/entry/619955 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619957 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619959 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619964 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/619967 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619971 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619972 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/619975 rdfs:subClassOf @@ -428016,7 +427694,6 @@ INFO missing_superclass https://omim.org/entry/620138 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620141 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620154 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620155 rdfs:subClassOf -INFO missing_superclass https://omim.org/entry/620161 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620166 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620186 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620191 rdfs:subClassOf @@ -428031,6 +427708,12 @@ INFO missing_superclass https://omim.org/entry/620233 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620235 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620240 rdfs:subClassOf INFO missing_superclass https://omim.org/entry/620242 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620250 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620270 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620285 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620286 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620292 rdfs:subClassOf +INFO missing_superclass https://omim.org/entry/620294 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS100070 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS100300 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS101800 rdfs:subClassOf @@ -428068,6 +427751,7 @@ INFO missing_superclass https://www.omim.org/phenotypicSeries/PS115210 rdfs:subC INFO missing_superclass https://www.omim.org/phenotypicSeries/PS115430 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS116200 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS116860 rdfs:subClassOf +INFO missing_superclass https://www.omim.org/phenotypicSeries/PS117000 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS118100 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS118220 rdfs:subClassOf INFO missing_superclass https://www.omim.org/phenotypicSeries/PS118450 rdfs:subClassOf diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index 3f8098a6..df75f1d4 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -8049,6 +8049,7 @@ NCIT:C28621 Epithelial Proliferative Lesions of the Mouse Pulmonary System False NCIT:C28622 Airway Epithelial Hyperplasia of the Mouse Pulmonary System False False False NCIT:C28623 Alveoli Epithelial Hyperplasia of the Mouse Pulmonary System False False False NCIT:C28625 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia of the Mouse Pulmonary System False False False +NCIT:C2872 Refractory Anemia False False False NCIT:C2874 Angiokeratoma False False False NCIT:C2875 Anorexia False False False NCIT:C2885 Ascites False False False @@ -11204,6 +11205,8 @@ NCIT:C6718 Sternal Intraosseous Schwannoma False False False NCIT:C6721 Chest Wall Plexiform Fibrohistiocytic Tumor False False False NCIT:C67214 Peripheral Primitive Neuroectodermal Tumor of the Kidney False False False NCIT:C6723 Chest Wall Hodgkin Lymphoma False False False +NCIT:C6725 Lynch 1 Syndrome False False False +NCIT:C6726 Lynch 2 Syndrome False False False NCIT:C6731 Stage IIA Esophageal Adenocarcinoma AJCC v7 False False False NCIT:C6732 Stage IIB Esophageal Adenocarcinoma AJCC v7 False False False NCIT:C6733 Stage IVA Esophageal Adenocarcinoma False False False @@ -168980,7 +168983,6 @@ NCIT:C2868 Amyloidosis True False False NCIT:C2869 Anemia True False False NCIT:C2870 Aplastic Anemia True False False NCIT:C2871 Pernicious Anemia True False False -NCIT:C2872 Refractory Anemia True False False NCIT:C2877 Anal Neoplasm True False False NCIT:C2878 Anxiety Disorder True False False NCIT:C2880 Ovarian Sertoli-Leydig Cell Tumor True False False @@ -172360,8 +172362,6 @@ NCIT:C6720 Chest Wall Parachordoma True False False NCIT:C67235 Oncogenic Osteomalacia True False False NCIT:C67237 Phosphaturic Mesenchymal Tumor True False False NCIT:C6724 Malignant Chest Wall Bone Neoplasm True False False -NCIT:C6725 Lynch 1 Syndrome True False False -NCIT:C6726 Lynch 2 Syndrome True False False NCIT:C6727 Neurofibromatosis True False False NCIT:C67277 Giant Hypertrophic Gastritis True False False NCIT:C6728 Gardner Syndrome True False False diff --git a/src/ontology/reports/ncit_unmapped_terms.tsv b/src/ontology/reports/ncit_unmapped_terms.tsv index 3c6454cd..5cedb73b 100644 --- a/src/ontology/reports/ncit_unmapped_terms.tsv +++ b/src/ontology/reports/ncit_unmapped_terms.tsv @@ -5591,6 +5591,8 @@ NCIT:C23064 Lymphoproliferative Neoplasms of the Mouse Oral Cavity NCIT:C23084 Lymphoproliferative Neoplasms of the Mouse Pharynx NCIT:C23148 Lymphoproliferative Neoplasms of the Mouse Salivary Glands NCIT:C26960 Lymphosarcoma Involving Spleen +NCIT:C6725 Lynch 1 Syndrome +NCIT:C6726 Lynch 2 Syndrome NCIT:C188259 MAFA Related Familial Insulinomatosis NCIT:C21881 MAIDS NCIT:C148394 MCD Diffuse Large B-Cell Lymphoma @@ -9839,6 +9841,7 @@ NCIT:C160915 Refractory Anaplastic Ganglioglioma NCIT:C8658 Refractory Anaplastic Large Cell Lymphoma NCIT:C169074 Refractory Anaplastic Oligodendroglioma NCIT:C160905 Refractory Anaplastic Pleomorphic Xanthoastrocytoma +NCIT:C2872 Refractory Anemia NCIT:C8671 Refractory Angioimmunoblastic T-Cell Lymphoma NCIT:C179178 Refractory Appendix Adenocarcinoma NCIT:C179177 Refractory Appendix Carcinoma diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index 03277ebb..d9fdb6af 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -3135,6 +3135,8 @@ OMIM:301092 MONDO:excludeGene OMIM:301093 MONDO:excludeGene OMIM:301096 MONDO:excludeGene OMIM:301097 MONDO:excludeGene +OMIM:301098 MONDO:excludeGene +OMIM:301102 MONDO:excludeGene OMIM:301300 MONDO:excludeGene OMIM:301770 MONDO:excludeGene OMIM:301780 MONDO:excludeGene @@ -17219,6 +17221,33 @@ OMIM:620248 MONDO:excludeGene OMIM:620251 MONDO:excludeGene OMIM:620252 MONDO:excludeGene OMIM:620254 MONDO:excludeGene +OMIM:620255 MONDO:excludeGene +OMIM:620256 MONDO:excludeGene +OMIM:620257 MONDO:excludeGene +OMIM:620258 MONDO:excludeGene +OMIM:620259 MONDO:excludeGene +OMIM:620260 MONDO:excludeGene +OMIM:620261 MONDO:excludeGene +OMIM:620262 MONDO:excludeGene +OMIM:620263 MONDO:excludeGene +OMIM:620264 MONDO:excludeGene +OMIM:620266 MONDO:excludeGene +OMIM:620267 MONDO:excludeGene +OMIM:620268 MONDO:excludeGene +OMIM:620271 MONDO:excludeGene +OMIM:620272 MONDO:excludeGene +OMIM:620273 MONDO:excludeGene +OMIM:620274 MONDO:excludeGene +OMIM:620279 MONDO:excludeGene +OMIM:620287 MONDO:excludeGene +OMIM:620288 MONDO:excludeGene +OMIM:620289 MONDO:excludeGene +OMIM:620290 MONDO:excludeGene +OMIM:620291 MONDO:excludeGene +OMIM:620293 MONDO:excludeGene +OMIM:620295 MONDO:excludeGene +OMIM:620297 MONDO:excludeGene +OMIM:620298 MONDO:excludeGene OMIM:109780 MONDO:excludeNonDisease OMIM:116950 MONDO:excludeNonDisease OMIM:174750 MONDO:excludeNonDisease @@ -18230,6 +18259,7 @@ OMIM:241100 MONDO:excludeTrait OMIM:241120 MONDO:excludeTrait OMIM:241519 MONDO:excludeTrait OMIM:241540 MONDO:excludeTrait +OMIM:241550 MONDO:excludeTrait OMIM:241760 MONDO:excludeTrait OMIM:242050 MONDO:excludeTrait OMIM:242400 MONDO:excludeTrait @@ -22104,6 +22134,8 @@ OMIM:301092 MONDO:nonDisease OMIM:301093 MONDO:nonDisease OMIM:301096 MONDO:nonDisease OMIM:301097 MONDO:nonDisease +OMIM:301098 MONDO:nonDisease +OMIM:301102 MONDO:nonDisease OMIM:301300 MONDO:nonDisease OMIM:301770 MONDO:nonDisease OMIM:301780 MONDO:nonDisease @@ -36003,3 +36035,30 @@ OMIM:620248 MONDO:nonDisease OMIM:620251 MONDO:nonDisease OMIM:620252 MONDO:nonDisease OMIM:620254 MONDO:nonDisease +OMIM:620255 MONDO:nonDisease +OMIM:620256 MONDO:nonDisease +OMIM:620257 MONDO:nonDisease +OMIM:620258 MONDO:nonDisease +OMIM:620259 MONDO:nonDisease +OMIM:620260 MONDO:nonDisease +OMIM:620261 MONDO:nonDisease +OMIM:620262 MONDO:nonDisease +OMIM:620263 MONDO:nonDisease +OMIM:620264 MONDO:nonDisease +OMIM:620266 MONDO:nonDisease +OMIM:620267 MONDO:nonDisease +OMIM:620268 MONDO:nonDisease +OMIM:620271 MONDO:nonDisease +OMIM:620272 MONDO:nonDisease +OMIM:620273 MONDO:nonDisease +OMIM:620274 MONDO:nonDisease +OMIM:620279 MONDO:nonDisease +OMIM:620287 MONDO:nonDisease +OMIM:620288 MONDO:nonDisease +OMIM:620289 MONDO:nonDisease +OMIM:620290 MONDO:nonDisease +OMIM:620291 MONDO:nonDisease +OMIM:620293 MONDO:nonDisease +OMIM:620295 MONDO:nonDisease +OMIM:620297 MONDO:nonDisease +OMIM:620298 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index 7888391b..bc03db47 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -16,7 +16,9 @@ MONDO:0008091 OMIM:162820 MONDO:equivalentObsolete MONDO:0008126 OMIM:164891 MONDO:equivalentObsolete MONDO:0008204 OMIM:168850 MONDO:equivalentObsolete MONDO:0008289 OMIM:607595 MONDO:equivalentObsolete +MONDO:0008409 OMIM:181430 MONDO:equivalentObsolete MONDO:0008415 OMIM:181515 MONDO:equivalentObsolete +MONDO:0008448 OMIM:182920 MONDO:equivalentObsolete MONDO:0008490 OMIM:277610 MONDO:equivalentObsolete MONDO:0008523 OMIM:609464 MONDO:equivalentObsolete MONDO:0008774 OMIM:245130 MONDO:equivalentObsolete @@ -25,6 +27,7 @@ MONDO:0009194 OMIM:614894 MONDO:equivalentObsolete MONDO:0009302 OMIM:233430 MONDO:equivalentObsolete MONDO:0009307 OMIM:233670 MONDO:equivalentObsolete MONDO:0009535 OMIM:247440 MONDO:equivalentObsolete +MONDO:0009654 OMIM:252700 MONDO:equivalentObsolete MONDO:0009679 OMIM:253900 MONDO:equivalentObsolete MONDO:0010045 OMIM:270710 MONDO:equivalentObsolete MONDO:0010205 OMIM:278100 MONDO:equivalentObsolete @@ -32,6 +35,8 @@ MONDO:0010258 OMIM:300987 MONDO:equivalentObsolete MONDO:0010291 OMIM:300274 MONDO:equivalentObsolete MONDO:0010295 OMIM:300301 MONDO:equivalentObsolete MONDO:0010327 OMIM:300220 MONDO:equivalentObsolete +MONDO:0010340 OMIM:300494 MONDO:equivalentObsolete +MONDO:0010343 OMIM:300497 MONDO:equivalentObsolete MONDO:0010346 OMIM:300504 MONDO:equivalentObsolete MONDO:0010357 OMIM:300551 MONDO:equivalentObsolete MONDO:0010368 OMIM:300584 MONDO:equivalentObsolete @@ -45,9 +50,11 @@ MONDO:0010666 OMIM:309605 MONDO:equivalentObsolete MONDO:0010720 OMIM:307300 MONDO:equivalentObsolete MONDO:0010720 OMIM:312100 MONDO:equivalentObsolete MONDO:0010804 OMIM:600048 MONDO:equivalentObsolete +MONDO:0010859 OMIM:600309 MONDO:equivalentObsolete MONDO:0010911 OMIM:600634 MONDO:equivalentObsolete MONDO:0010936 OMIM:614696 MONDO:equivalentObsolete MONDO:0010957 OMIM:600908 MONDO:equivalentObsolete +MONDO:0010975 OMIM:600996 MONDO:equivalentObsolete MONDO:0011111 OMIM:601563 MONDO:equivalentObsolete MONDO:0011362 OMIM:607569 MONDO:equivalentObsolete MONDO:0011401 OMIM:611155 MONDO:equivalentObsolete @@ -59,6 +66,7 @@ MONDO:0011939 OMIM:271550 MONDO:equivalentObsolete MONDO:0012017 OMIM:608355 MONDO:equivalentObsolete MONDO:0012215 OMIM:159000 MONDO:equivalentObsolete MONDO:0012247 OMIM:609307 MONDO:equivalentObsolete +MONDO:0012279 OMIM:609456 MONDO:equivalentObsolete MONDO:0012461 OMIM:610269 MONDO:equivalentObsolete MONDO:0012560 OMIM:610799 MONDO:equivalentObsolete MONDO:0012853 OMIM:233500 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index f216e400..dcb6010d 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,75 +1,7 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:102570 removed from database False False False -OMIM:102920 removed from database False False False -OMIM:102930 removed from database False False False -OMIM:102940 removed from database False False False -OMIM:102970 removed from database False False False -OMIM:107253 removed from database False False False -OMIM:108400 removed from database False False False -OMIM:117200 removed from database False False False -OMIM:121000 removed from database False False False -OMIM:124580 removed from database False False False -OMIM:125510 removed from database False False False -OMIM:126440 removed from database False False False -OMIM:132860 removed from database False False False -OMIM:133710 removed from database False False False -OMIM:133730 removed from database False False False -OMIM:133740 removed from database False False False -OMIM:136670 removed from database False False False -OMIM:138391 removed from database False False False -OMIM:139220 removed from database False False False -OMIM:139230 removed from database False False False -OMIM:142420 removed from database False False False -OMIM:142870 removed from database False False False -OMIM:143070 removed from database False False False -OMIM:143080 removed from database False False False -OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant False False False -OMIM:147410 removed from database False False False -OMIM:147490 removed from database False False False -OMIM:147684 removed from database False False False -OMIM:151550 removed from database False False False -OMIM:155960 removed from database False False False -OMIM:163900 removed from database False False False -OMIM:164710 removed from database False False False -OMIM:164830 removed from database False False False -OMIM:170950 removed from database False False False -OMIM:171700 removed from database False False False -OMIM:177860 removed from database False False False -OMIM:179715 removed from database False False False +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to False False False OMIM:180295 rhabdomyosarcoma, embryonal, 2 False False False -OMIM:180330 removed from database False False False -OMIM:180930 removed from database False False False -OMIM:180940 removed from database False False False OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to False False False -OMIM:183250 removed from database False False False -OMIM:185450 removed from database False False False -OMIM:185595 removed from database False False False -OMIM:186690 removed from database False False False -OMIM:186920 removed from database False False False -OMIM:192070 removed from database False False False -OMIM:193675 removed from database False False False -OMIM:194520 removed from database False False False -OMIM:194530 removed from database False False False -OMIM:200930 removed from database False False False -OMIM:204400 removed from database False False False -OMIM:211420 removed from database False False False -OMIM:212600 removed from database False False False -OMIM:212700 removed from database False False False -OMIM:221000 removed from database False False False -OMIM:225360 removed from database False False False -OMIM:231400 removed from database False False False -OMIM:231610 removed from database False False False -OMIM:239400 removed from database False False False -OMIM:240100 removed from database False False False -OMIM:242800 removed from database False False False -OMIM:245500 removed from database False False False -OMIM:249800 removed from database False False False -OMIM:252030 removed from database False False False -OMIM:253500 removed from database False False False -OMIM:261660 removed from database False False False -OMIM:264810 removed from database False False False -OMIM:275600 removed from database False False False -OMIM:300900 removed from database False False False OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies False False False OMIM:301069 chromosome xq13 duplication syndrome False False False OMIM:301071 thrombophilia, x-linked, due to factor 8 defect False False False @@ -77,55 +9,9 @@ OMIM:301080 systemic lupus erythematosus 17 False False False OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features False False False OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked False False False OMIM:301095 intellectual developmental disorder, X-linked 110 False False False -OMIM:301880 removed from database False False False -OMIM:304990 removed from database False False False -OMIM:305650 removed from database False False False -OMIM:306600 removed from database False False False -OMIM:308210 removed from database False False False -OMIM:308400 removed from database False False False -OMIM:311700 removed from database False False False -OMIM:312030 removed from database False False False -OMIM:312530 removed from database False False False -OMIM:313450 removed from database False False False -OMIM:313460 removed from database False False False -OMIM:313550 removed from database False False False -OMIM:314350 removed from database False False False -OMIM:314920 removed from database False False False -OMIM:314940 removed from database False False False -OMIM:314960 removed from database False False False -OMIM:400000 removed from database False False False -OMIM:424000 removed from database False False False -OMIM:510000 removed from database False False False -OMIM:600261 removed from database False False False -OMIM:600499 removed from database False False False -OMIM:600606 removed from database False False False -OMIM:601050 removed from database False False False -OMIM:601106 removed from database False False False -OMIM:601169 removed from database False False False -OMIM:601294 removed from database False False False -OMIM:602029 removed from database False False False -OMIM:602147 removed from database False False False -OMIM:602456 removed from database False False False -OMIM:603653 removed from database False False False -OMIM:603793 removed from database False False False -OMIM:603986 removed from database False False False -OMIM:603990 removed from database False False False -OMIM:604006 removed from database False False False -OMIM:604007 removed from database False False False -OMIM:604338 removed from database False False False -OMIM:604339 removed from database False False False -OMIM:604340 removed from database False False False -OMIM:604341 removed from database False False False -OMIM:604342 removed from database False False False -OMIM:604343 removed from database False False False -OMIM:605177 removed from database False False False -OMIM:607507 psoriatic arthritis, susceptibility to False False False -OMIM:608297 removed from database False False False -OMIM:609830 removed from database False False False -OMIM:615971 removed from database False False False -OMIM:616018 removed from database False False False +OMIM:301099 spermatogenic failure, x-linked, 5 False False False +OMIM:301101 spermatogenic failure, x-linked, 6 False False False OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 False False False -OMIM:618428 removed from database False False False OMIM:619268 alzahrani-kuwahara syndrome False False False OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia False False False OMIM:619290 mahvash disease False False False @@ -223,6 +109,7 @@ OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypog OMIM:619762 kury-isidor syndrome False False False OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin False False False OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies False False False +OMIM:619806 spinocerebellar ataxia 49 False False False OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia False False False OMIM:619824 agammaglobulinemia 8b, autosomal recessive False False False OMIM:619832 auditory neuropathy, autosomal dominant 3 False False False @@ -248,20 +135,37 @@ OMIM:619902 hepatorenocardiac degenerative fibrosis False False False OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive False False False OMIM:619908 neurodevelopmental disorder with language delay and seizures False False False OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism False False False +OMIM:619913 developmental and epileptic encephalopathy 103 False False False +OMIM:619921 dystonia 35, childhood-onset False False False OMIM:619922 neurodevelopmental disorder with dystonia and seizures False False False +OMIM:619927 intellectual developmental disorder, autosomal dominant 67 False False False +OMIM:619931 intellectual developmental disorder, autosomal recessive 76 False False False +OMIM:619934 intellectual developmental disorder, autosomal dominant 68 False False False +OMIM:619935 immunodeficiency 106, susceptibility to viral infections False False False +OMIM:619937 spermatogenic failure 74 False False False +OMIM:619938 premature ovarian failure 20 False False False OMIM:619941 carey-fineman-ziter syndrome 2 False False False +OMIM:619947 waardenburg syndrome, iia 2f False False False +OMIM:619949 spermatogenic failure 75 False False False +OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 False False False +OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 False False False OMIM:619955 dworschak-punetha neurodevelopmental syndrome False False False OMIM:619957 attention deficit-hyperactivity disorder 8 False False False OMIM:619959 acces syndrome False False False OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures False False False -OMIM:619967 myopathy, congenital, nonprogressive False False False +OMIM:619966 spastic paraplegia 87, autosomal recessive False False False +OMIM:619967 congenital myopathy 11 False False False +OMIM:619970 developmental and epileptic encephalopathy 104 False False False OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy False False False OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy False False False OMIM:619975 tumor predisposition syndrome 2 False False False OMIM:619977 macular dystrophy, retinal, 4 False False False OMIM:619980 braddock-carey syndrome 1 False False False OMIM:619981 braddock-carey syndrome 2 False False False +OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism False False False OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 False False False +OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection False False False +OMIM:619988 intellectual developmental disorder, autosomal recessive 77 False False False OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies False False False OMIM:619991 liver disease, severe congenital False False False OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies False False False @@ -269,29 +173,44 @@ OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abn OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome False False False OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects False False False OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive False False False +OMIM:620010 cholestasis, progressive familial intrahepatic, 12 False False False OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 False False False OMIM:620012 developmental delay, hypotonia, and impaired language False False False +OMIM:620014 lymphatic malformation 12 False False False +OMIM:620015 advance sleep phase syndrome, familial, 4 False False False +OMIM:620019 arthrogryposis, distal, iia 11 False False False OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies False False False +OMIM:620022 stickler syndrome, iia 6 False False False OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures False False False OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities False False False OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects False False False OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay False False False +OMIM:620028 developmental and epileptic encephalopathy 106 False False False OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures False False False +OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus False False False +OMIM:620033 developmental and epileptic encephalopathy 107 False False False OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language False False False +OMIM:620040 dyskeratosis congenita, digenic False False False OMIM:620044 bone marrow failure and diabetes mellitus syndrome False False False OMIM:620045 intestinal dysmotility syndrome False False False +OMIM:620047 microcephaly 29, primary, autosomal recessive False False False +OMIM:620049 nephrotic syndrome, iia 26 False False False +OMIM:620056 polycystic kidney disease 7 False False False OMIM:620058 familial apolipoprotein gene cluster deletion syndrome False False False OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 False False False OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders False False False OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment False False False OMIM:620067 cardiac valvular dysplasia 2 False False False +OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii False False False OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties False False False OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss False False False +OMIM:620072 diamond-blackfan anemia 21 False False False OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities False False False OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly False False False OMIM:620076 bent bone dysplasia syndrome 2 False False False OMIM:620080 neuronopathy, distal hereditary motor, iia 10 False False False OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects False False False +OMIM:620084 spermatogenic failure 76 False False False OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 False False False OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features False False False OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction False False False @@ -299,6 +218,8 @@ OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and atax OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies False False False OMIM:620099 cleidocranial dysplasia 2 False False False OMIM:620102 retinitis pigmentosa 95 False False False +OMIM:620103 spermatogenic failure 77 False False False +OMIM:620104 amelogenesis imperfecta, iia 1k False False False OMIM:620106 spastic paraplegia 88, autosomal dominant False False False OMIM:620107 orofaciodigital syndrome 19 False False False OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j False False False @@ -325,7 +246,7 @@ OMIM:620155 rabin-pappas syndrome False False False OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 False False False OMIM:620157 intellectual developmental disorder, autosomal dominant 70 False False False OMIM:620158 spinocerebellar ataxia 50 False False False -OMIM:620161 myopathy, congenital, with neonatal respiratory insufficiency False False False +OMIM:620161 congenital myopathy 15 False False False OMIM:620166 muscular dystrophy, congenital, with or without seizures False False False OMIM:620167 combined oxidative phosphorylation deficiency 57 False False False OMIM:620170 spermatogenic failure 78 False False False @@ -371,18 +292,46 @@ OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormal OMIM:620243 leukodystrophy, hypomyelinating, 25 False False False OMIM:620244 lymphatic malformation 13 False False False OMIM:620245 episodic kinesigenic dyskinesia 3 False False False +OMIM:620246 congenital myopathy 18 False False False OMIM:620247 cardiomyopathy, dilated, 1oo False False False +OMIM:620249 congenital myopathy 10b, mild variant False False False +OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum False False False OMIM:620253 cataract 50 with or without glaucoma False False False +OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive False False False +OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia False False False +OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities False False False +OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 False False False +OMIM:620276 oocyte maturation defect 14 False False False +OMIM:620277 spermatogenic failure 81 False False False +OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant False False False +OMIM:620280 deafness, autosomal dominant 86 False False False +OMIM:620281 deafness, autosomal dominant 87 False False False +OMIM:620282 immunodeficiency 109 with lymphoproliferation False False False +OMIM:620283 deafness, autosomal dominant 88 False False False +OMIM:620284 deafness, autosomal dominant 89 False False False +OMIM:620285 amyotrophic lateral sclerosis 27, juvenile False False False +OMIM:620286 myopathy, sarcoplasmic body False False False +OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures False False False +OMIM:620294 congenital heart defects, multiple types, 9 False False False +OMIMPS:117000 False False False +OMIMPS:136550 False False False +OMIMPS:142340 False False False OMIMPS:146590 False False False OMIMPS:149730 False False False +OMIMPS:167870 False False False +OMIMPS:212093 False False False OMIMPS:213980 False False False OMIMPS:226400 False False False OMIMPS:232200 False False False OMIMPS:254940 False False False +OMIMPS:256550 False False False OMIMPS:267750 False False False OMIMPS:300491 False False False +OMIMPS:601457 False False False OMIMPS:607602 False False False +OMIMPS:614592 False False False OMIMPS:616901 False False False +OMIMPS:619980 False False False OMIMPS:620184 False False False OMIM:100500 False False True OMIM:100680 False False True @@ -390,10 +339,15 @@ OMIM:100735 False False True OMIM:100900 False False True OMIM:102490 False False True OMIM:102550 False False True +OMIM:102570 removed from database False False True OMIM:102640 False False True OMIM:102710 False False True OMIM:102730 False False True OMIM:102777 False False True +OMIM:102920 removed from database False False True +OMIM:102930 removed from database False False True +OMIM:102940 removed from database False False True +OMIM:102970 removed from database False False True OMIM:102990 False False True OMIM:103321 False False True OMIM:103581 False False True @@ -404,6 +358,7 @@ OMIM:104740 False False True OMIM:106160 False False True OMIM:106200 False False True OMIM:107240 False False True +OMIM:107253 removed from database False False True OMIM:107257 False False True OMIM:107460 False False True OMIM:107601 False False True @@ -413,6 +368,7 @@ OMIM:107950 False False True OMIM:108110 False False True OMIM:108130 False False True OMIM:108140 False False True +OMIM:108400 removed from database False False True OMIM:108970 False False True OMIM:109390 False False True OMIM:111410 False False True @@ -432,6 +388,7 @@ OMIM:116150 False False True OMIM:116935 False False True OMIM:116954 False False True OMIM:117142 False False True +OMIM:117200 removed from database False False True OMIM:117350 False False True OMIM:117400 False False True OMIM:118150 False False True @@ -444,6 +401,7 @@ OMIM:120321 False False True OMIM:120327 False False True OMIM:120460 False False True OMIM:120832 False False True +OMIM:121000 removed from database False False True OMIM:121020 False False True OMIM:121250 False False True OMIM:121700 False False True @@ -456,20 +414,27 @@ OMIM:123839 False False True OMIM:123850 False False True OMIM:123950 False False True OMIM:123960 False False True +OMIM:124580 removed from database False False True OMIM:124800 False False True OMIM:124910 False False True OMIM:125100 False False True +OMIM:125510 removed from database False False True OMIM:125650 False False True OMIM:125870 False False True OMIM:126061 False False True OMIM:126140 False False True +OMIM:126440 removed from database False False True OMIM:126448 False False True OMIM:126830 False False True OMIM:130591 False False True OMIM:131445 False False True +OMIM:132860 removed from database False False True OMIM:133250 False False True OMIM:133420 False False True OMIM:133535 False False True +OMIM:133710 removed from database False False True +OMIM:133730 removed from database False False True +OMIM:133740 removed from database False False True OMIM:134100 False False True OMIM:134450 False False True OMIM:134530 False False True @@ -483,6 +448,7 @@ OMIM:136490 False False True OMIM:136560 False False True OMIM:136610 False False True OMIM:136650 False False True +OMIM:136670 removed from database False False True OMIM:136750 False False True OMIM:136770 False False True OMIM:137033 False False True @@ -497,7 +463,10 @@ OMIM:138270 False False True OMIM:138276 False False True OMIM:138335 False False True OMIM:138370 False False True +OMIM:138391 removed from database False False True OMIM:139145 False False True +OMIM:139220 removed from database False False True +OMIM:139230 removed from database False False True OMIM:140090 False False True OMIM:140340 False False True OMIM:140570 False False True @@ -509,14 +478,18 @@ OMIM:142270 False False True OMIM:142300 False False True OMIM:142333 False False True OMIM:142380 False False True +OMIM:142420 removed from database False False True OMIM:142450 False False True OMIM:142510 False False True OMIM:142550 False False True OMIM:142760 False False True OMIM:142850 False False True +OMIM:142870 removed from database False False True OMIM:142925 False False True OMIM:142990 False False True OMIM:143065 False False True +OMIM:143070 removed from database False False True +OMIM:143080 removed from database False False True OMIM:143090 False False True OMIM:143150 False False True OMIM:144400 False False True @@ -528,11 +501,14 @@ OMIM:146932 False False True OMIM:146940 False False True OMIM:147160 False False True OMIM:147210 False False True +OMIM:147410 removed from database False False True OMIM:147420 False False True +OMIM:147490 removed from database False False True OMIM:147554 False False True OMIM:147581 False False True OMIM:147585 False False True OMIM:147590 False False True +OMIM:147684 removed from database False False True OMIM:147686 False False True OMIM:148181 False False True OMIM:148860 False False True @@ -543,6 +519,7 @@ OMIM:150220 False False True OMIM:151390 False False True OMIM:151465 False False True OMIM:151540 False False True +OMIM:151550 removed from database False False True OMIM:151580 False False True OMIM:151680 False False True OMIM:151710 False False True @@ -565,6 +542,7 @@ OMIM:154705 False False True OMIM:155250 False False True OMIM:155741 False False True OMIM:155800 False False True +OMIM:155960 removed from database False False True OMIM:155975 False False True OMIM:156340 False False True OMIM:156536 False False True @@ -595,6 +573,7 @@ OMIM:162375 False False True OMIM:162661 False False True OMIM:162870 False False True OMIM:163728 False False True +OMIM:163900 removed from database False False True OMIM:164016 False False True OMIM:164018 False False True OMIM:164019 False False True @@ -602,8 +581,10 @@ OMIM:164021 False False True OMIM:164022 False False True OMIM:164600 False False True OMIM:164700 False False True +OMIM:164710 removed from database False False True OMIM:164756 False False True OMIM:164759 False False True +OMIM:164830 removed from database False False True OMIM:164905 False False True OMIM:164970 False False True OMIM:165010 False False True @@ -619,7 +600,9 @@ OMIM:168350 False False True OMIM:168460 False False True OMIM:168610 False False True OMIM:170300 False False True +OMIM:170950 removed from database False False True OMIM:171350 False False True +OMIM:171700 removed from database False False True OMIM:171850 False False True OMIM:171880 False False True OMIM:172300 False False True @@ -640,20 +623,25 @@ OMIM:177030 False False True OMIM:177150 False False True OMIM:177500 False False True OMIM:177720 False False True +OMIM:177860 removed from database False False True OMIM:179040 False False True OMIM:179090 False False True +OMIM:179715 removed from database False False True OMIM:179760 False False True OMIM:179770 False False True OMIM:180060 False False True OMIM:180070 False False True OMIM:180102 False False True OMIM:180103 False False True +OMIM:180330 removed from database False False True OMIM:180461 False False True OMIM:180462 False False True OMIM:180540 False False True OMIM:180720 False False True OMIM:180840 False False True OMIM:180850 False False True +OMIM:180930 removed from database False False True +OMIM:180940 removed from database False False True OMIM:181520 False False True OMIM:182143 False False True OMIM:182203 False False True @@ -664,12 +652,17 @@ OMIM:182892 False False True OMIM:182930 False False True OMIM:183000 False False True OMIM:183085 False False True +OMIM:183250 removed from database False False True OMIM:184601 False False True OMIM:184747 False False True OMIM:184754 False False True OMIM:185010 False False True OMIM:185400 False False True +OMIM:185450 removed from database False False True +OMIM:185595 removed from database False False True +OMIM:186690 removed from database False False True OMIM:186710 False False True +OMIM:186920 removed from database False False True OMIM:187010 False False True OMIM:187450 False False True OMIM:188200 False False True @@ -693,23 +686,29 @@ OMIM:191742 False False True OMIM:191743 False False True OMIM:191750 False False True OMIM:191810 False False True +OMIM:192070 removed from database False False True OMIM:192450 False False True OMIM:192972 False False True OMIM:193010 False False True OMIM:193050 False False True OMIM:193290 False False True +OMIM:193675 removed from database False False True OMIM:193680 False False True OMIM:194100 False False True +OMIM:194520 removed from database False False True +OMIM:194530 removed from database False False True OMIM:195002 False False True OMIM:200440 False False True OMIM:200710 False False True OMIM:200720 False False True +OMIM:200930 removed from database False False True OMIM:201181 False False True OMIM:201460 False False True OMIM:202500 False False True OMIM:203280 False False True OMIM:203285 False False True OMIM:203310 False False True +OMIM:204400 removed from database False False True OMIM:204600 False False True OMIM:205600 False False True OMIM:205900 False False True @@ -727,10 +726,13 @@ OMIM:210300 False False True OMIM:210450 False False True OMIM:211170 False False True OMIM:211410 False False True +OMIM:211420 removed from database False False True OMIM:211550 False False True OMIM:211970 False False True OMIM:212110 False False True OMIM:212120 False False True +OMIM:212600 removed from database False False True +OMIM:212700 removed from database False False True OMIM:212900 False False True OMIM:212905 False False True OMIM:213002 False False True @@ -742,6 +744,7 @@ OMIM:218455 False False True OMIM:218500 False False True OMIM:220700 False False True OMIM:220800 False False True +OMIM:221000 removed from database False False True OMIM:221600 False False True OMIM:221650 False False True OMIM:222000 False False True @@ -752,6 +755,7 @@ OMIM:224200 False False True OMIM:224570 False False True OMIM:224600 False False True OMIM:225350 False False True +OMIM:225360 removed from database False False True OMIM:225450 False False True OMIM:225795 False False True OMIM:226450 False False True @@ -768,8 +772,10 @@ OMIM:229950 False False True OMIM:230430 False False True OMIM:230700 False False True OMIM:230710 False False True +OMIM:231400 removed from database False False True OMIM:231500 False False True OMIM:231520 False False True +OMIM:231610 removed from database False False True OMIM:232210 False False True OMIM:232330 False False True OMIM:235360 False False True @@ -779,27 +785,34 @@ OMIM:236490 False False True OMIM:238200 False False True OMIM:238400 False False True OMIM:238500 False False True +OMIM:239400 removed from database False False True +OMIM:240100 removed from database False False True OMIM:241400 False False True OMIM:241750 False False True OMIM:241900 False False True OMIM:242170 False False True OMIM:242650 False False True +OMIM:242800 removed from database False False True OMIM:243095 False False True OMIM:243340 False False True OMIM:244500 False False True OMIM:245210 False False True +OMIM:245500 removed from database False False True OMIM:246490 False False True OMIM:246800 False False True OMIM:247400 False False True OMIM:247900 False False True OMIM:248750 False False True OMIM:248810 False False True +OMIM:249800 removed from database False False True OMIM:250600 False False True OMIM:251455 False False True OMIM:251500 False False True OMIM:251890 False False True +OMIM:252030 removed from database False False True OMIM:252200 False False True OMIM:253230 False False True +OMIM:253500 removed from database False False True OMIM:253850 False False True OMIM:254195 False False True OMIM:255170 False False True @@ -818,6 +831,7 @@ OMIM:260450 False False True OMIM:260490 False False True OMIM:260980 False False True OMIM:261510 False False True +OMIM:261660 removed from database False False True OMIM:262350 False False True OMIM:262780 False False True OMIM:263510 False False True @@ -828,6 +842,7 @@ OMIM:264150 False False True OMIM:264160 False False True OMIM:264200 False False True OMIM:264450 False False True +OMIM:264810 removed from database False False True OMIM:268030 False False True OMIM:268670 False False True OMIM:268950 False False True @@ -846,6 +861,7 @@ OMIM:273350 False False True OMIM:274260 False False True OMIM:275500 False False True OMIM:275550 False False True +OMIM:275600 removed from database False False True OMIM:275650 False False True OMIM:276500 False False True OMIM:276850 False False True @@ -909,10 +925,12 @@ OMIM:300743 False False True OMIM:300744 False False True OMIM:300745 False False True OMIM:300800 False False True +OMIM:300900 removed from database False False True OMIM:301090 False False True OMIM:301100 False False True OMIM:301810 False False True OMIM:301820 False False True +OMIM:301880 removed from database False False True OMIM:302300 False False True OMIM:302380 False False True OMIM:302920 False False True @@ -922,20 +940,25 @@ OMIM:304590 False False True OMIM:304600 False False True OMIM:304750 False False True OMIM:304930 False False True +OMIM:304990 removed from database False False True OMIM:305050 False False True OMIM:305200 False False True OMIM:305300 False False True OMIM:305425 False False True OMIM:305645 False False True +OMIM:305650 removed from database False False True OMIM:305910 False False True OMIM:305980 False False True OMIM:306100 False False True OMIM:306190 False False True +OMIM:306600 removed from database False False True OMIM:306970 False False True OMIM:307600 False False True OMIM:307810 False False True +OMIM:308210 removed from database False False True OMIM:308310 False False True OMIM:308370 False False True +OMIM:308400 removed from database False False True OMIM:308930 False False True OMIM:308980 False False True OMIM:309150 False False True @@ -954,25 +977,38 @@ OMIM:311150 False False True OMIM:311241 False False True OMIM:311280 False False True OMIM:311601 False False True +OMIM:311700 removed from database False False True OMIM:311750 False False True OMIM:311810 False False True +OMIM:312030 removed from database False False True OMIM:312390 False False True OMIM:312400 False False True OMIM:312450 False False True +OMIM:312530 removed from database False False True OMIM:312800 False False True OMIM:312860 False False True OMIM:312890 False False True OMIM:312900 False False True OMIM:313100 False False True +OMIM:313450 removed from database False False True +OMIM:313460 removed from database False False True +OMIM:313550 removed from database False False True OMIM:313680 False False True +OMIM:314350 removed from database False False True OMIM:314555 False False True +OMIM:314920 removed from database False False True +OMIM:314940 removed from database False False True +OMIM:314960 removed from database False False True OMIM:315000 False False True +OMIM:400000 removed from database False False True OMIM:400001 False False True OMIM:400002 False False True OMIM:400007 False False True OMIM:400024 False False True OMIM:400032 False False True +OMIM:424000 removed from database False False True OMIM:488000 False False True +OMIM:510000 removed from database False False True OMIM:550000 False False True OMIM:550900 False False True OMIM:555000 False False True @@ -1024,6 +1060,7 @@ OMIM:600254 False False True OMIM:600255 False False True OMIM:600256 False False True OMIM:600260 False False True +OMIM:600261 removed from database False False True OMIM:600265 False False True OMIM:600290 False False True OMIM:600304 False False True @@ -1049,6 +1086,7 @@ OMIM:600484 False False True OMIM:600485 False False True OMIM:600486 False False True OMIM:600498 False False True +OMIM:600499 removed from database False False True OMIM:600500 False False True OMIM:600506 False False True OMIM:600507 False False True @@ -1060,6 +1098,7 @@ OMIM:600601 False False True OMIM:600602 False False True OMIM:600603 False False True OMIM:600604 False False True +OMIM:600606 removed from database False False True OMIM:600612 False False True OMIM:600619 False False True OMIM:600622 False False True @@ -1115,15 +1154,18 @@ OMIM:601036 False False True OMIM:601043 False False True OMIM:601044 False False True OMIM:601049 False False True +OMIM:601050 removed from database False False True OMIM:601059 False False True OMIM:601073 False False True OMIM:601084 False False True OMIM:601085 False False True OMIM:601087 False False True +OMIM:601106 removed from database False False True OMIM:601108 False False True OMIM:601111 False False True OMIM:601137 False False True OMIM:601164 False False True +OMIM:601169 removed from database False False True OMIM:601171 False False True OMIM:601173 False False True OMIM:601174 False False True @@ -1135,6 +1177,7 @@ OMIM:601229 False False True OMIM:601256 False False True OMIM:601264 False False True OMIM:601286 False False True +OMIM:601294 removed from database False False True OMIM:601298 False False True OMIM:601307 False False True OMIM:601312 False False True @@ -1188,6 +1231,7 @@ OMIM:601971 False False True OMIM:601986 False False True OMIM:601996 False False True OMIM:602028 False False True +OMIM:602029 removed from database False False True OMIM:602036 False False True OMIM:602057 False False True OMIM:602067 False False True @@ -1195,6 +1239,7 @@ OMIM:602073 False False True OMIM:602077 False False True OMIM:602084 False False True OMIM:602094 False False True +OMIM:602147 removed from database False False True OMIM:602156 False False True OMIM:602185 False False True OMIM:602205 False False True @@ -1214,6 +1259,7 @@ OMIM:602405 False False True OMIM:602417 False False True OMIM:602439 False False True OMIM:602455 False False True +OMIM:602456 removed from database False False True OMIM:602467 False False True OMIM:602476 False False True OMIM:602506 False False True @@ -1264,6 +1310,7 @@ OMIM:603532 False False True OMIM:603545 False False True OMIM:603556 False False True OMIM:603586 False False True +OMIM:603653 removed from database False False True OMIM:603655 False False True OMIM:603676 False False True OMIM:603723 False False True @@ -1271,12 +1318,17 @@ OMIM:603724 False False True OMIM:603748 False False True OMIM:603789 False False True OMIM:603792 False False True +OMIM:603793 removed from database False False True OMIM:603807 False False True OMIM:603858 False False True OMIM:603860 False False True OMIM:603923 False False True OMIM:603938 False False True +OMIM:603986 removed from database False False True +OMIM:603990 removed from database False False True OMIM:604005 False False True +OMIM:604006 removed from database False False True +OMIM:604007 removed from database False False True OMIM:604021 False False True OMIM:604022 False False True OMIM:604023 False False True @@ -1297,6 +1349,12 @@ OMIM:604246 False False True OMIM:604247 False False True OMIM:604248 False False True OMIM:604284 False False True +OMIM:604338 removed from database False False True +OMIM:604339 removed from database False False True +OMIM:604340 removed from database False False True +OMIM:604341 removed from database False False True +OMIM:604342 removed from database False False True +OMIM:604343 removed from database False False True OMIM:604359 False False True OMIM:604361 False False True OMIM:604408 False False True @@ -1334,6 +1392,7 @@ OMIM:605137 False False True OMIM:605150 False False True OMIM:605151 False False True OMIM:605156 False False True +OMIM:605177 removed from database False False True OMIM:605203 False False True OMIM:605260 False False True OMIM:605288 False False True @@ -1425,6 +1484,7 @@ OMIM:608001 False False True OMIM:608032 False False True OMIM:608056 False False True OMIM:608128 False False True +OMIM:608297 removed from database False False True OMIM:608319 False False True OMIM:608346 False False True OMIM:608395 False False True @@ -1455,6 +1515,7 @@ OMIM:609569 False False True OMIM:609581 False False True OMIM:609609 False False True OMIM:609781 False False True +OMIM:609830 removed from database False False True OMIM:609886 False False True OMIM:609902 False False True OMIM:609940 False False True @@ -1521,9 +1582,12 @@ OMIM:615118 False False True OMIM:615141 False False True OMIM:615325 False False True OMIM:615801 False False True +OMIM:615971 removed from database False False True +OMIM:616018 removed from database False False True OMIM:616233 False False True OMIM:616369 False False True OMIM:618007 False False True +OMIM:618428 removed from database False False True OMIM:100640 ALDH1A1 False True False OMIM:100650 ALDH2 False True False OMIM:100660 ALDH3A1 False True False @@ -1647,7 +1711,6 @@ OMIM:106150 AGT False True False OMIM:106165 AGTR1 False True False OMIM:106180 ACE False True False OMIM:106195 SLC4A3 False True False -OMIM:106400 ankylosing vertebral hyperostosis with tylosis False True False OMIM:106410 ANK2 False True False OMIM:106490 ANXA3 False True False OMIM:106491 ANXA4 False True False @@ -4301,7 +4364,7 @@ OMIM:300416 XAGE2 False True False OMIM:300417 GPRASP1 False True False OMIM:300418 GSPT2 False True False OMIM:300420 PJA1 False True False -OMIM:300427 NLGN4 False True False +OMIM:300427 NLGN4X False True False OMIM:300429 ARHGEF9 False True False OMIM:300435 PGRMC1 False True False OMIM:300437 ERAS False True False @@ -4697,6 +4760,8 @@ OMIM:301092 MIR92A2 False True False OMIM:301093 NHSL2 False True False OMIM:301096 CSAG2 False True False OMIM:301097 CSAG3 False True False +OMIM:301098 MMGT1 False True False +OMIM:301102 TMEM31 False True False OMIM:301300 ALAS2 False True False OMIM:301770 ARR3 False True False OMIM:301780 ARSC2 False True False @@ -4731,7 +4796,7 @@ OMIM:309845 MSN False True False OMIM:309850 MAOA False True False OMIM:309860 MAOB False True False OMIM:310310 MYCL2 False True False -OMIM:311010 ARAF1 False True False +OMIM:311010 ARAF False True False OMIM:311030 MCF2 False True False OMIM:311040 ELK1 False True False OMIM:311240 TBC1D25 False True False @@ -6889,7 +6954,7 @@ OMIM:602754 KCNN4 False True False OMIM:602755 CCNB2 False True False OMIM:602756 EFNA2 False True False OMIM:602757 EPHB6 False True False -OMIM:602758 PIK4CB False True False +OMIM:602758 PI4KB False True False OMIM:602760 KRT32 False True False OMIM:602761 KRT33A False True False OMIM:602762 KRT33B False True False @@ -10399,7 +10464,7 @@ OMIM:606918 GOLGA5 False True False OMIM:606919 CERS1 False True False OMIM:606920 CERS2 False True False OMIM:606921 GPR78 False True False -OMIM:606922 GPR80 False True False +OMIM:606922 OXGR1 False True False OMIM:606923 HCAR1 False True False OMIM:606925 QRFPR False True False OMIM:606926 LPAR5 False True False @@ -11871,7 +11936,7 @@ OMIM:608824 CGB2 False True False OMIM:608825 CGB5 False True False OMIM:608826 CGB7 False True False OMIM:608827 CGB8 False True False -OMIM:608828 RNASEN False True False +OMIM:608828 DROSHA False True False OMIM:608829 SUMO4 False True False OMIM:608830 RDH12 False True False OMIM:608832 GREM2 False True False @@ -15438,7 +15503,7 @@ OMIM:613699 GLT6D1 False True False OMIM:613701 MIR328 False True False OMIM:613709 EIF2D False True False OMIM:613713 PCID2 False True False -OMIM:613714 b7 homolog 6 False True False +OMIM:613714 NCR3LG1 False True False OMIM:613715 POLR1D False True False OMIM:613716 MIR661 False True False OMIM:613719 MSRB3 False True False @@ -17723,6 +17788,7 @@ OMIM:617858 PSMF1 False True False OMIM:617859 DLGAP5 False True False OMIM:617860 SFTA3 False True False OMIM:617861 MYPOP False True False +OMIM:617863 intellectual developmental disorder, autosomal dominant 69 False True False OMIM:617867 TP53I11 False True False OMIM:617868 NAF1 False True False OMIM:617869 NKX1-1 False True False @@ -18827,6 +18893,33 @@ OMIM:620248 TMEM80 False True False OMIM:620251 CEP170B False True False OMIM:620252 TMEM245 False True False OMIM:620254 RNFT2 False True False +OMIM:620255 MFSD13A False True False +OMIM:620256 CLRN3 False True False +OMIM:620257 TMEM158 False True False +OMIM:620258 TMEM160 False True False +OMIM:620259 ANKRD18A False True False +OMIM:620260 TMEM132B False True False +OMIM:620261 EMC6 False True False +OMIM:620262 ANKRD36 False True False +OMIM:620263 OOSP2 False True False +OMIM:620264 PGAP4 False True False +OMIM:620266 RIMOC1 False True False +OMIM:620267 RMC1 False True False +OMIM:620268 FHDC1 False True False +OMIM:620271 TMEM41B False True False +OMIM:620272 TMEM235 False True False +OMIM:620273 EMC3 False True False +OMIM:620274 WDR87 False True False +OMIM:620279 DAW1 False True False +OMIM:620287 TMEM71 False True False +OMIM:620288 TEDDM1 False True False +OMIM:620289 TMEM234 False True False +OMIM:620290 TMEM219 False True False +OMIM:620291 WDR18 False True False +OMIM:620293 TMEM9B False True False +OMIM:620295 DCAF10 False True False +OMIM:620297 SLC35A4 False True False +OMIM:620298 SLC35A5 False True False OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False OMIM:100100 prune belly syndrome True False False OMIM:100300 adams-oliver syndrome 1 True False False @@ -19026,7 +19119,7 @@ OMIM:116700 cataract 13 with adult i phenotype True False False OMIM:116800 cataract 5, multiple types True False False OMIM:116860 cerebral cavernous malformations True False False OMIM:116920 leukocyte adhesion deficiency, iia 1 True False False -OMIM:117000 central core disease of muscle True False False +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia True False False OMIM:117100 centralopathic epilepsy True False False OMIM:117210 spinocerebellar ataxia 31 True False False OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 True False False @@ -19358,6 +19451,7 @@ OMIM:146700 ichthyosis vulgaris True False False OMIM:146750 ichthyosis, lamellar, autosomal dominant True False False OMIM:146800 ichthyosis bullosa of siemens True False False OMIM:147050 ige responsiveness, atopic True False False +OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant True False False OMIM:147250 solitary median maxillary central incisor True False False OMIM:147400 incisors, shovel-shaped True False False OMIM:147421 inclusion body myositis True False False @@ -19519,7 +19613,7 @@ OMIM:161200 nail-patella syndrome True False False OMIM:161400 narcolepsy 1 True False False OMIM:161500 nasal groove, familial transverse True False False OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 True False False -OMIM:161800 nemaline myopathy 3 True False False +OMIM:161800 congenital myopathy 2a, typical, autosomal dominant True False False OMIM:161900 renal failure, progressive, with hypertension True False False OMIM:161950 iga nephropathy, susceptibility to, 1 True False False OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 True False False @@ -19696,7 +19790,6 @@ OMIM:178500 interstitial lung disease 2 True False False OMIM:178600 pulmonary hypertension, primary, 1 True False False OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 True False False OMIM:179200 radial heads, posterior dislocation of True False False -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to True False False OMIM:179600 raynaud disease True False False OMIM:179613 recombinant chromosome 8 syndrome True False False OMIM:179650 red cell permeability defect True False False @@ -19729,7 +19822,6 @@ OMIM:181270 scalp-ear-nipple syndrome True False False OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant True False False OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia True False False OMIM:181405 scapuloperoneal spinal muscular atrophy True False False -OMIM:181430 scapuloperoneal myopathy, myh7-related True False False OMIM:181440 scheuermann disease True False False OMIM:181450 ulnar-mammary syndrome True False False OMIM:181500 schizophrenia True False False @@ -19748,7 +19840,6 @@ OMIM:182410 sneddon syndrome True False False OMIM:182600 spastic paraplegia 3, autosomal dominant True False False OMIM:182601 spastic paraplegia 4, autosomal dominant True False False OMIM:182900 spherocytosis, iia 1 True False False -OMIM:182920 myopathy, spheroid body True False False OMIM:182940 neural tube defects, susceptibility to True False False OMIM:182950 spinal arachnoiditis True False False OMIM:182960 neuronopathy, distal hereditary motor, iia 1 True False False @@ -20347,7 +20438,6 @@ OMIM:241500 hypophosphatasia, infantile True False False OMIM:241510 hypophosphatasia, childhood True False False OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 True False False OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary True False False -OMIM:241550 hypoplastic left heart syndrome 1 True False False OMIM:241600 immunodeficiency 43 True False False OMIM:241800 pallister-hall-like syndrome True False False OMIM:241850 bamforth-lazarus syndrome True False False @@ -20486,7 +20576,6 @@ OMIM:252500 mucolipidosis 2 alpha/beta True False False OMIM:252600 mucolipidosis 3 alpha/beta True False False OMIM:252605 mucolipidosis 3 gamma True False False OMIM:252650 mucolipidosis 4 True False False -OMIM:252700 mucopolysaccharidoses, unclassified types True False False OMIM:252900 mucopolysaccharidosis, iia 3a True False False OMIM:252920 mucopolysaccharidosis, iia 3b True False False OMIM:252930 mucopolysaccharidosis, iia 3c True False False @@ -20527,17 +20616,17 @@ OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced True False False OMIM:255120 carnitine palmitoyltransferase 1 deficiency True False False OMIM:255125 myopathy with lactic acidosis, hereditary True False False -OMIM:255160 myopathy, myosin storage, autosomal recessive True False False +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive True False False OMIM:255200 myopathy, centronuclear, 2 True False False OMIM:255300 batten-turner congenital myopathy True False False -OMIM:255310 myopathy, congenital, with fiber-type disproportion True False False -OMIM:255320 minicore myopathy with external ophthalmoplegia True False False +OMIM:255310 congenital myopathy 4a, autosomal dominant True False False +OMIM:255320 congenital myopathy 1b, autosomal recessive True False False OMIM:255500 myopia 18, autosomal recessive True False False OMIM:255600 myosclerosis, autosomal recessive True False False OMIM:255700 myotonia congenita, autosomal recessive True False False OMIM:255800 schwartz-jampel syndrome, iia 1 True False False OMIM:255960 myxoma, intracardiac True False False -OMIM:255995 myopathy, congenital, bailey-bloch True False False +OMIM:255995 congenital myopathy 13 True False False OMIM:256000 leigh syndrome True False False OMIM:256020 focal segmental glomerulosclerosis 10 True False False OMIM:256030 nemaline myopathy 2 True False False @@ -20959,10 +21048,8 @@ OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart OMIM:300488 menopause, natural, age at, quantitative trait locus 1 True False False OMIM:300489 spinal muscular atrophy, distal, X-linked 3 True False False OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders True False False -OMIM:300494 asperger syndrome, x-linked, susceptibility to, 1 True False False OMIM:300495 autism, susceptibility to, X-linked 2 True False False OMIM:300496 autism, susceptibility to, X-linked 3 True False False -OMIM:300497 asperger syndrome, x-linked, susceptibility to, 2 True False False OMIM:300498 intellectual developmental disorder, X-linked 45 True False False OMIM:300500 albinism, ocular, iia 1 True False False OMIM:300505 intellectual developmental disorder, X-linked 84 True False False @@ -21406,7 +21493,6 @@ OMIM:600263 helicobacter pylori infection, susceptibility to True False False OMIM:600268 oculoectodermal syndrome True False False OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis True False False OMIM:600274 frontotemporal dementia True False False -OMIM:600309 atrioventricular septal defect 3 True False False OMIM:600316 deafness, autosomal recessive 3 True False False OMIM:600318 iia 1 diabetes mellitus 3 True False False OMIM:600319 iia 1 diabetes mellitus 4 True False False @@ -21486,7 +21572,6 @@ OMIM:600977 cone-rod dystrophy 5 True False False OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development True False False OMIM:600994 deafness, autosomal dominant 5 True False False OMIM:600995 nephrotic syndrome, iia 2 True False False -OMIM:600996 arrhythmogenic right ventricular dysplasia, familial, 2 True False False OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive True False False OMIM:601003 brody disease True False False OMIM:601005 timothy syndrome True False False @@ -21696,7 +21781,7 @@ OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoret OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss True False False OMIM:602723 psoriasis 2 True False False OMIM:602759 prostate cancer, hereditary, 8 True False False -OMIM:602771 rigid spine muscular dystrophy 1 True False False +OMIM:602771 congenital myopathy 3 with rigid spine True False False OMIM:602772 retinitis pigmentosa 25 True False False OMIM:602782 histiocytosis-lymphadenopathy plus syndrome True False False OMIM:602849 muenke syndrome True False False @@ -21927,7 +22012,7 @@ OMIM:605598 iia 1 diabetes mellitus 18 True False False OMIM:605606 psoriasis 7, susceptibility to True False False OMIM:605627 cerebrooculonasal syndrome True False False OMIM:605635 hyperaldosteronism, familial, iia 2 True False False -OMIM:605637 myopathy, proximal, with ophthalmoplegia True False False +OMIM:605637 congenital myopathy 6 with ophthalmoplegia True False False OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia True False False OMIM:605670 late-onset retinal degeneration True False False OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma True False False @@ -22166,6 +22251,7 @@ OMIM:607488 dystonia 15, myoclonic True False False OMIM:607498 migraine with or without aura, susceptibility to, 3 True False False OMIM:607499 bulimia nervosa, susceptibility to True False False OMIM:607501 migraine without aura, susceptibility to, 4 True False False +OMIM:607507 psoriatic arthritis, susceptibility to True False False OMIM:607508 migraine with or without aura, susceptibility to, 5 True False False OMIM:607516 migraine with or without aura, susceptibility to, 6 True False False OMIM:607523 nail disorder, nonsyndromic congenital, 8 True False False @@ -22313,7 +22399,7 @@ OMIM:608328 weill-marchesani syndrome 2 True False False OMIM:608340 charcot-marie-tooth disease, recessive intermediate a True False False OMIM:608345 nystagmus 3, congenital, autosomal dominant True False False OMIM:608354 capillary malformation-arteriovenous malformation 1 True False False -OMIM:608358 myopathy, myosin storage, autosomal dominant True False False +OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant True False False OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia True False False OMIM:608363 chromosome 22q11.2 duplication syndrome True False False OMIM:608367 myopia 17, autosomal dominant True False False @@ -22515,7 +22601,7 @@ OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 True False False OMIM:609271 keratoconus 4 True False False OMIM:609273 nemaline myopathy 6 True False False OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 True False False -OMIM:609284 nemaline myopathy 1 True False False +OMIM:609284 congenital myopathy 4b, autosomal recessive True False False OMIM:609285 nemaline myopathy 4 True False False OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 True False False OMIM:609289 syncope, familial vasovagal True False False @@ -22551,7 +22637,6 @@ OMIM:609441 acromesomelic dysplasia 3 True False False OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy True False False OMIM:609452 myopathy, myofibrillar, 4 True False False OMIM:609454 supranuclear palsy, progressive, 2 True False False -OMIM:609456 muscular dystrophy, congenital, merosin-positive True False False OMIM:609460 goldberg-shprintzen syndrome True False False OMIM:609465 al-gazali syndrome True False False OMIM:609469 nephropathy, progressive, with deafness True False False @@ -22953,7 +23038,7 @@ OMIM:611637 primary lateral sclerosis, adult, 1 True False False OMIM:611638 microphthalmia, isolated, with coloboma 5 True False False OMIM:611644 hirschsprung disease, susceptibility to, 9 True False False OMIM:611694 dystonia with cerebellar atrophy True False False -OMIM:611705 salih myopathy True False False +OMIM:611705 congenital myopathy 5 with cardiomyopathy True False False OMIM:611706 migraine with or without aura, susceptibility to, 12 True False False OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech True False False OMIM:611718 hypomagnesemia 4, renal True False False @@ -23162,7 +23247,7 @@ OMIM:612528 diamond-blackfan anemia 5 True False False OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 True False False OMIM:612530 chromosome 1q41-q42 deletion syndrome True False False OMIM:612539 spastic paraplegia 42, autosomal dominant True False False -OMIM:612540 myopathy, congenital, compton-north True False False +OMIM:612540 congenital myopathy 12 True False False OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive True False False OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to True False False OMIM:612554 myopia 16, autosomal dominant True False False @@ -23939,7 +24024,7 @@ OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 True False False OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 True False False OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 True False False OMIM:614395 graft-versus-host disease, susceptibility to True False False -OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset True False False +OMIM:614399 congenital myopathy 10a, severe variant True False False OMIM:614400 glucocorticoid therapy, response to True False False OMIM:614401 accelerated tumor formation, susceptibility to True False False OMIM:614402 microphthalmia, syndromic 11 True False False @@ -24369,7 +24454,7 @@ OMIM:615397 meckel syndrome, iia 11 True False False OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 True False False OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 True False False OMIM:615400 epilepsy, familial adult myoclonic, 5 True False False -OMIM:615401 immunodeficiency 8 True False False +OMIM:615401 immunodeficiency 8 with lymphoproliferation True False False OMIM:615402 dyschromatosis universalis hereditaria 3 True False False OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 True False False OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 True False False @@ -24424,7 +24509,7 @@ OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichos OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome True False False OMIM:615511 myopathy due to myoadenylate deaminase deficiency True False False OMIM:615512 triosephosphate isomerase deficiency True False False -OMIM:615513 immunodeficiency 14a, autosomal dominant True False False +OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant True False False OMIM:615515 amyotrophic lateral sclerosis 19 True False False OMIM:615516 intellectual developmental disorder, autosomal recessive 38 True False False OMIM:615517 hemochromatosis, iia 5 True False False @@ -24653,7 +24738,7 @@ OMIM:616000 analbuminemia True False False OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 True False False OMIM:616002 focal segmental glomerulosclerosis 7 True False False OMIM:616004 dysfibrinogenemia, congenital True False False -OMIM:616005 immunodeficiency 36 True False False +OMIM:616005 immunodeficiency 36 with lymphoproliferation True False False OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 True False False OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia True False False OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive True False False @@ -25400,7 +25485,7 @@ OMIM:617798 intellectual developmental disorder, autosomal dominant 53 True Fals OMIM:617799 intellectual developmental disorder, autosomal dominant 54 True False False OMIM:617800 microcephaly 19, primary, autosomal recessive True False False OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy True False False -OMIM:617804 neurodevelopmental disorder with severe motor impairment and absent language True False False +OMIM:617804 neurodevelopmental disorder with variable motor and language impairment True False False OMIM:617805 renal hypodysplasia/aplasia 3 True False False OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter True False False OMIM:617808 coffin-siris syndrome 6 True False False @@ -25739,7 +25824,7 @@ OMIM:618402 intellectual developmental disorder, autosomal recessive 70 True Fal OMIM:618404 leukodystrophy, hypomyelinating, 18 True False False OMIM:618410 deafness, autosomal recessive 113 True False False OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine True False False -OMIM:618414 myopathy, congenital, with fast-twitch (type ii) fiber atrophy True False False +OMIM:618414 congenital myopathy 14 True False False OMIM:618415 cataract 48 True False False OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression True False False OMIM:618418 spastic paraplegia 80, autosomal dominant True False False @@ -25802,13 +25887,13 @@ OMIM:618512 o'donnell-luria-rodan syndrome True False False OMIM:618513 leber congenital amaurosis 19 True False False OMIM:618522 intellectual developmental disorder, autosomal dominant 59 True False False OMIM:618523 hyper-ige recurrent infection syndrome 4b, autosomal recessive True False False -OMIM:618524 myopathy, congenital, with tremor True False False +OMIM:618524 congenital myopathy 16 True False False OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features True False False OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) True False False OMIM:618529 robinow syndrome, autosomal recessive 2 True False False OMIM:618531 erythrokeratodermia variabilis et progressiva 6 True False False OMIM:618533 deafness, autosomal dominant 37 True False False -OMIM:618534 immunodeficiency 64 True False False +OMIM:618534 immunodeficiency 64 with lymphoproliferation True False False OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair iia True False False OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development True False False OMIM:618546 trichothiodystrophy 7, nonphotosensitive True False False @@ -25826,7 +25911,7 @@ OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorp OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity True False False OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 True False False OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies True False False -OMIM:618578 myopathy, congenital, progressive, with scoliosis True False False +OMIM:618578 congenital myopathy 19 True False False OMIM:618580 developmental and epileptic encephalopathy 80 True False False OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures True False False OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis True False False @@ -25857,7 +25942,7 @@ OMIM:618648 immunodeficiency 65, susceptibility to viral infections True False F OMIM:618651 halperin-birk syndrome True False False OMIM:618652 neurooculocardiogenitourinary syndrome True False False OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies True False False -OMIM:618654 myopathy, congenital, with structured cores and z-line abnormalities True False False +OMIM:618654 congenital myopathy 8 True False False OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant True False False OMIM:618658 zimmermann-laband syndrome 3 True False False OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies True False False @@ -25940,8 +26025,8 @@ OMIM:618811 mitochondrial DNA depletion syndrome 18 True False False OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant True False False OMIM:618820 genitourinary and/or brain malformation syndrome True False False OMIM:618821 rhizomelic limb shortening with dysmorphic features True False False -OMIM:618822 myopathy, congenital, with respiratory insufficiency and bone fractures True False False -OMIM:618823 myopathy, congenital proximal, with minicore lesions True False False +OMIM:618822 congenital myopathy 9a True False False +OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions True False False OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive True False False OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly True False False OMIM:618826 retinitis pigmentosa 88 True False False @@ -26031,10 +26116,10 @@ OMIM:618971 tolchin-le caignec syndrome True False False OMIM:618972 mitochondrial DNA depletion syndrome 19 True False False OMIM:618973 sodium-dependent multivitamin transporter deficiency True False False OMIM:618974 li-ghorbani-weisz-hubshman syndrome True False False -OMIM:618975 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies True False False +OMIM:618975 congenital myopathy 17 True False False OMIM:618977 optic atrophy 12 True False False OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 True False False -OMIM:618982 immunodeficiency 72 with autoinflammation True False False +OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation True False False OMIM:618983 blood group, lewis system True False False OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant True False False OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia True False False @@ -26119,7 +26204,7 @@ OMIM:619122 vertebral hypersegmentation and orofacial anomalies True False False OMIM:619123 cardiofacioneurodevelopmental syndrome True False False OMIM:619124 developmental and epileptic encephalopathy 89 True False False OMIM:619125 kaya-barakat-masson syndrome True False False -OMIM:619126 immunodeficiency 75 True False False +OMIM:619126 immunodeficiency 75 with lymphoproliferation True False False OMIM:619127 mandibuloacral dysplasia progeroid syndrome True False False OMIM:619130 thrombocytopenia 7 True False False OMIM:619131 osteogenesis imperfecta, iia 21 True False False @@ -26384,7 +26469,6 @@ OMIM:619802 immunodeficiency 97 with autoinflammation True False False OMIM:619803 spermatogenic failure 67 True False False OMIM:619804 deafness, autosomal dominant 82 True False False OMIM:619805 spermatogenic failure 68 True False False -OMIM:619806 spinocerebellar ataxia 49 True False False OMIM:619808 deafness, autosomal dominant 83 True False False OMIM:619810 deafness, autosomal dominant 84 True False False OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant True False False @@ -26414,41 +26498,7 @@ OMIM:619895 holoprosencephaly 14 True False False OMIM:619897 cardiomyopathy, dilated, 2g True False False OMIM:619909 pontocerebellar hypoplasia, iia 17 True False False OMIM:619910 intellectual developmental disorder, autosomal dominant 66 True False False -OMIM:619913 developmental and epileptic encephalopathy 103 True False False -OMIM:619921 dystonia 35, childhood-onset True False False OMIM:619924 immunodeficiency 105 True False False -OMIM:619927 intellectual developmental disorder, autosomal dominant 67 True False False -OMIM:619931 intellectual developmental disorder, autosomal recessive 76 True False False -OMIM:619934 intellectual developmental disorder, autosomal dominant 68 True False False -OMIM:619935 immunodeficiency 106, susceptibility to viral infections True False False -OMIM:619937 spermatogenic failure 74 True False False -OMIM:619938 premature ovarian failure 20 True False False -OMIM:619947 waardenburg syndrome, iia 2f True False False -OMIM:619949 spermatogenic failure 75 True False False -OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 True False False -OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 True False False -OMIM:619966 spastic paraplegia 87, autosomal recessive True False False -OMIM:619970 developmental and epileptic encephalopathy 104 True False False -OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism True False False -OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection True False False -OMIM:619988 intellectual developmental disorder, autosomal recessive 77 True False False -OMIM:620010 cholestasis, progressive familial intrahepatic, 12 True False False -OMIM:620014 lymphatic malformation 12 True False False -OMIM:620015 advance sleep phase syndrome, familial, 4 True False False -OMIM:620019 arthrogryposis, distal, iia 11 True False False -OMIM:620022 stickler syndrome, iia 6 True False False -OMIM:620028 developmental and epileptic encephalopathy 106 True False False -OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus True False False -OMIM:620033 developmental and epileptic encephalopathy 107 True False False -OMIM:620040 dyskeratosis congenita, digenic True False False -OMIM:620047 microcephaly 29, primary, autosomal recessive True False False -OMIM:620049 nephrotic syndrome, iia 26 True False False -OMIM:620056 polycystic kidney disease 7 True False False -OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii True False False -OMIM:620072 diamond-blackfan anemia 21 True False False -OMIM:620084 spermatogenic failure 76 True False False -OMIM:620103 spermatogenic failure 77 True False False -OMIM:620104 amelogenesis imperfecta, iia 1k True False False OMIMPS:100070 True False False OMIMPS:100300 True False False OMIMPS:101800 True False False @@ -26528,14 +26578,12 @@ OMIMPS:135700 True False False OMIMPS:135900 True False False OMIMPS:136500 True False False OMIMPS:136520 True False False -OMIMPS:136550 True False False OMIMPS:136760 True False False OMIMPS:136800 True False False OMIMPS:137800 True False False OMIMPS:137950 True False False OMIMPS:138800 True False False OMIMPS:141500 True False False -OMIMPS:142340 True False False OMIMPS:142623 True False False OMIMPS:142690 True False False OMIMPS:142700 True False False @@ -26595,7 +26643,6 @@ OMIMPS:166800 True False False OMIMPS:167200 True False False OMIMPS:167250 True False False OMIMPS:167320 True False False -OMIMPS:167870 True False False OMIMPS:168000 True False False OMIMPS:168500 True False False OMIMPS:168600 True False False @@ -26675,7 +26722,6 @@ OMIMPS:211530 True False False OMIMPS:211600 True False False OMIMPS:212065 True False False OMIMPS:212066 True False False -OMIMPS:212093 True False False OMIMPS:212720 True False False OMIMPS:212750 True False False OMIMPS:213200 True False False @@ -26765,7 +26811,6 @@ OMIMPS:256100 True False False OMIMPS:256300 True False False OMIMPS:256450 True False False OMIMPS:256520 True False False -OMIMPS:256550 True False False OMIMPS:256730 True False False OMIMPS:256850 True False False OMIMPS:257300 True False False @@ -26857,7 +26902,6 @@ OMIMPS:601198 True False False OMIMPS:601228 True False False OMIMPS:601390 True False False OMIMPS:601419 True False False -OMIMPS:601457 True False False OMIMPS:601462 True False False OMIMPS:601471 True False False OMIMPS:601495 True False False @@ -26952,7 +26996,6 @@ OMIMPS:614328 True False False OMIMPS:614372 True False False OMIMPS:614388 True False False OMIMPS:614429 True False False -OMIMPS:614592 True False False OMIMPS:614594 True False False OMIMPS:614675 True False False OMIMPS:614742 True False False @@ -26982,7 +27025,6 @@ OMIMPS:619142 True False False OMIMPS:619611 True False False OMIMPS:619720 True False False OMIMPS:619758 True False False -OMIMPS:619980 True False False OMIM:102590 True False True OMIM:103470 True False True OMIM:124400 True False True @@ -27001,7 +27043,9 @@ OMIM:163955 True False True OMIM:164891 True False True OMIM:168850 True False True OMIM:175020 True False True +OMIM:181430 True False True OMIM:181515 True False True +OMIM:182920 True False True OMIM:208080 True False True OMIM:216920 True False True OMIM:233430 True False True @@ -27009,6 +27053,7 @@ OMIM:233500 True False True OMIM:233670 True False True OMIM:245130 True False True OMIM:247440 True False True +OMIM:252700 True False True OMIM:253900 True False True OMIM:270710 True False True OMIM:271225 True False True @@ -27019,6 +27064,8 @@ OMIM:278100 True False True OMIM:300220 True False True OMIM:300274 True False True OMIM:300301 True False True +OMIM:300494 True False True +OMIM:300497 True False True OMIM:300504 True False True OMIM:300537 True False True OMIM:300551 True False True @@ -27036,8 +27083,10 @@ OMIM:312100 True False True OMIM:600048 True False True OMIM:600146 True False True OMIM:600208 True False True +OMIM:600309 True False True OMIM:600634 True False True OMIM:600908 True False True +OMIM:600996 True False True OMIM:601251 True False True OMIM:601563 True False True OMIM:603463 True False True @@ -27052,6 +27101,7 @@ OMIM:608591 True False True OMIM:609143 True False True OMIM:609266 True False True OMIM:609307 True False True +OMIM:609456 True False True OMIM:609464 True False True OMIM:609943 True False True OMIM:610269 True False True @@ -27103,6 +27153,7 @@ OMIM:106220 aniridia and absent patella True True False OMIM:106240 anisocoria True True False OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate True True False OMIM:106280 ankyloglossia with or without tooth anomalies True True False +OMIM:106400 ankylosing vertebral hyperostosis with tylosis True True False OMIM:106500 annular erythema True True False OMIM:106750 anonychia with flexural pigmentation True True False OMIM:106900 anonychia-ectrodactyly True True False @@ -27967,7 +28018,7 @@ OMIM:238340 hyperleucine-isoleucinemia True True False OMIM:238350 hyperlexia True True False OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria True True False OMIM:238750 hyperlysinuria with hyperammonemia True True False -OMIM:238800 hypermetabolism due to defect 1n mitochondria True True False +OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 True True False OMIM:238950 hyperopia, high True True False OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria True True False OMIM:239350 hyperphosphatemia, polyuria, and seizures True True False @@ -27984,6 +28035,7 @@ OMIM:241100 hypogonadism, male True True False OMIM:241120 hypohidrosis with abnormal palmar dermal ridges True True False OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications True True False OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus True True False +OMIM:241550 hypoplastic left heart syndrome 1 True True False OMIM:241760 hypospadias-mental retardation syndrome True True False OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density True True False OMIM:242400 ichthyosis congenita with biliary atresia True True False @@ -28696,5 +28748,4 @@ OMIM:615236 woods syndrome True True False OMIM:615619 cholangiocarcinoma, susceptibility to True True False OMIM:615711 alzheimer disease 19 True True False OMIM:616392 skint1-like pseudogene True True False -OMIM:617863 intellectual developmental disorder, autosomal dominant 69 True True False OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency True True False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 3345eb67..d2c2f594 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -3372,6 +3372,7 @@ OMIM:241100 OMIM:241120 OMIM:241519 OMIM:241540 +OMIM:241550 OMIM:241760 OMIM:242050 OMIM:242400 @@ -4368,6 +4369,8 @@ OMIM:301092 OMIM:301093 OMIM:301096 OMIM:301097 +OMIM:301098 +OMIM:301102 OMIM:301300 OMIM:301410 OMIM:301700 @@ -18926,3 +18929,30 @@ OMIM:620248 OMIM:620251 OMIM:620252 OMIM:620254 +OMIM:620255 +OMIM:620256 +OMIM:620257 +OMIM:620258 +OMIM:620259 +OMIM:620260 +OMIM:620261 +OMIM:620262 +OMIM:620263 +OMIM:620264 +OMIM:620266 +OMIM:620267 +OMIM:620268 +OMIM:620271 +OMIM:620272 +OMIM:620273 +OMIM:620274 +OMIM:620279 +OMIM:620287 +OMIM:620288 +OMIM:620289 +OMIM:620290 +OMIM:620291 +OMIM:620293 +OMIM:620295 +OMIM:620297 +OMIM:620298 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 84341867..4d6111e4 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,8 +1,12 @@ subject_id subject_label OMIM:619835 3-methylglutaconic aciduria, iia 7a OMIM:619959 acces syndrome +OMIM:620015 advance sleep phase syndrome, familial, 4 OMIM:619824 agammaglobulinemia 8b, autosomal recessive OMIM:619268 alzahrani-kuwahara syndrome +OMIM:620104 amelogenesis imperfecta, iia 1k +OMIM:620285 amyotrophic lateral sclerosis 27, juvenile +OMIM:620019 arthrogryposis, distal, iia 11 OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM:620184 atelis syndrome 1 OMIM:620185 atelis syndrome 2 @@ -32,12 +36,15 @@ OMIM:619338 cataracts, spastic paraparesis, and speech delay OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619538 cerebral cavernous malformations 4 +OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j OMIM:619841 chilton-okur-chung neurodevelopmental syndrome +OMIM:620010 cholestasis, progressive familial intrahepatic, 12 OMIM:619504 chopra-amiel-gordon syndrome OMIM:619649 chromosome 16q12 duplication syndrome OMIM:619343 chromosome 1p36 deletion syndrome, proximal OMIM:301069 chromosome xq13 duplication syndrome +OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620099 cleidocranial dysplasia 2 OMIM:619743 combined oxidative phosphorylation deficiency 55 @@ -47,16 +54,32 @@ OMIM:620200 congenital disorder of glycosylation, iia iiy OMIM:620201 congenital disorder of glycosylation, iia iiz OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy +OMIM:620294 congenital heart defects, multiple types, 9 +OMIM:620249 congenital myopathy 10b, mild variant +OMIM:619967 congenital myopathy 11 +OMIM:620161 congenital myopathy 15 +OMIM:620246 congenital myopathy 18 +OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive +OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 OMIM:619727 craniotubular dysplasia, ikegawa iia OMIM:620227 deafness, autosomal dominant 85 +OMIM:620280 deafness, autosomal dominant 86 +OMIM:620281 deafness, autosomal dominant 87 +OMIM:620283 deafness, autosomal dominant 88 +OMIM:620284 deafness, autosomal dominant 89 OMIM:620238 deafness, autosomal recessive 120 OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy OMIM:619488 degcags syndrome OMIM:619613 delayed puberty, self-limited OMIM:619877 dentici-novelli neurodevelopmental syndrome +OMIM:619913 developmental and epileptic encephalopathy 103 +OMIM:619970 developmental and epileptic encephalopathy 104 +OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism +OMIM:620028 developmental and epileptic encephalopathy 106 +OMIM:620033 developmental and epileptic encephalopathy 107 OMIM:620115 developmental and epileptic encephalopathy 108 OMIM:620145 developmental and epileptic encephalopathy 109 OMIM:620149 developmental and epileptic encephalopathy 110 @@ -71,10 +94,13 @@ OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavio OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM:620141 developmental delay, language impairment, and ocular abnormalities +OMIM:620072 diamond-blackfan anemia 21 OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects OMIM:619955 dworschak-punetha neurodevelopmental syndrome OMIM:620133 dyskeratosis congenita, autosomal recessive 8 +OMIM:620040 dyskeratosis congenita, digenic OMIM:619345 dysostosis multiplex, ain-naz iia +OMIM:619921 dystonia 35, childhood-onset OMIM:619681 dystonia, early-onset, and/or spastic paraplegia OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features @@ -93,7 +119,6 @@ OMIM:619902 hepatorenocardiac degenerative fibrosis OMIM:619702 heterotaxy, visceral, 12, autosomal OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome OMIM:620241 hydrocephalus, congenital, 5, susceptibility to -OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM:619324 hypertriglyceridemia 2 @@ -103,6 +128,9 @@ OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:619545 hypoplastic femurs and pelvis OMIM:620177 hypotrichosis 15 OMIM:620148 ichthyosis, annular epidermolytic, 2 +OMIM:619935 immunodeficiency 106, susceptibility to viral infections +OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection +OMIM:620282 immunodeficiency 109 with lymphoproliferation OMIM:619733 inclusion body myopathy and brain white matter abnormalities OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies @@ -112,7 +140,11 @@ OMIM:620007 intellectual developmental disorder with muscle tone abnormalities a OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy OMIM:301095 intellectual developmental disorder, X-linked 110 +OMIM:619927 intellectual developmental disorder, autosomal dominant 67 +OMIM:619934 intellectual developmental disorder, autosomal dominant 68 OMIM:620157 intellectual developmental disorder, autosomal dominant 70 +OMIM:619931 intellectual developmental disorder, autosomal recessive 76 +OMIM:619988 intellectual developmental disorder, autosomal recessive 77 OMIM:620237 intellectual developmental disorder, autosomal recessive 78 OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:619719 intellectual disability and myopathy syndrome @@ -127,30 +159,35 @@ OMIM:620193 lacrimoauriculodentodigital syndrome 3 OMIM:619864 leukodystrophy, childhood-onset, remitting OMIM:619851 leukodystrophy, hypomyelinating, 24 OMIM:620243 leukodystrophy, hypomyelinating, 25 +OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM:619991 liver disease, severe congenital OMIM:619460 luo-schoch-yamamoto syndrome +OMIM:620014 lymphatic malformation 12 OMIM:620244 lymphatic malformation 13 OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619977 macular dystrophy, retinal, 4 OMIM:619290 mahvash disease OMIM:619322 marbach-rustad progeroid syndrome OMIM:619680 marbach-schaaf neurodevelopmental syndrome +OMIM:620047 microcephaly 29, primary, autosomal recessive OMIM:620183 microcephaly 30, primary, autosomal recessive OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 +OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 OMIM:620153 mosaic variegated aneuploidy syndrome 4 OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM:620166 muscular dystrophy, congenital, with or without seizures OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis -OMIM:619967 myopathy, congenital, nonprogressive -OMIM:620161 myopathy, congenital, with neonatal respiratory insufficiency OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +OMIM:620286 myopathy, sarcoplasmic body OMIM:619468 nephronophthisis-like nephropathy 2 +OMIM:620049 nephrotic syndrome, iia 26 OMIM:619869 neurocardiofaciodigital syndrome OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly +OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects @@ -177,6 +214,7 @@ OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skel OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies +OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures OMIM:619908 neurodevelopmental disorder with language delay and seizures OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language @@ -194,6 +232,7 @@ OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, a OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities +OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia @@ -208,6 +247,7 @@ OMIM:620195 obesity and hypopigmentation OMIM:619318 oculogastrointestinal neurodevelopmental syndrome OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome OMIM:620154 oocyte maturation defect 13 +OMIM:620276 oocyte maturation defect 14 OMIM:620107 orofaciodigital syndrome 19 OMIM:619377 osteootohepatoenteric syndrome OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay @@ -215,128 +255,15 @@ OMIM:619873 parenti-mignot neurodevelopmental syndrome OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency +OMIM:620056 polycystic kidney disease 7 +OMIM:619938 premature ovarian failure 20 OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive -OMIM:607507 psoriatic arthritis, susceptibility to OMIM:620155 rabin-pappas syndrome OMIM:619312 radio-tartaglia syndrome +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:619695 rauch-steindl syndrome -OMIM:102570 removed from database -OMIM:102920 removed from database -OMIM:102930 removed from database -OMIM:102940 removed from database -OMIM:102970 removed from database -OMIM:107253 removed from database -OMIM:108400 removed from database -OMIM:117200 removed from database -OMIM:121000 removed from database -OMIM:124580 removed from database -OMIM:125510 removed from database -OMIM:126440 removed from database -OMIM:132860 removed from database -OMIM:133710 removed from database -OMIM:133730 removed from database -OMIM:133740 removed from database -OMIM:136670 removed from database -OMIM:138391 removed from database -OMIM:139220 removed from database -OMIM:139230 removed from database -OMIM:142420 removed from database -OMIM:142870 removed from database -OMIM:143070 removed from database -OMIM:143080 removed from database -OMIM:147410 removed from database -OMIM:147490 removed from database -OMIM:147684 removed from database -OMIM:151550 removed from database -OMIM:155960 removed from database -OMIM:163900 removed from database -OMIM:164710 removed from database -OMIM:164830 removed from database -OMIM:170950 removed from database -OMIM:171700 removed from database -OMIM:177860 removed from database -OMIM:179715 removed from database -OMIM:180330 removed from database -OMIM:180930 removed from database -OMIM:180940 removed from database -OMIM:183250 removed from database -OMIM:185450 removed from database -OMIM:185595 removed from database -OMIM:186690 removed from database -OMIM:186920 removed from database -OMIM:192070 removed from database -OMIM:193675 removed from database -OMIM:194520 removed from database -OMIM:194530 removed from database -OMIM:200930 removed from database -OMIM:204400 removed from database -OMIM:211420 removed from database -OMIM:212600 removed from database -OMIM:212700 removed from database -OMIM:221000 removed from database -OMIM:225360 removed from database -OMIM:231400 removed from database -OMIM:231610 removed from database -OMIM:239400 removed from database -OMIM:240100 removed from database -OMIM:242800 removed from database -OMIM:245500 removed from database -OMIM:249800 removed from database -OMIM:252030 removed from database -OMIM:253500 removed from database -OMIM:261660 removed from database -OMIM:264810 removed from database -OMIM:275600 removed from database -OMIM:300900 removed from database -OMIM:301880 removed from database -OMIM:304990 removed from database -OMIM:305650 removed from database -OMIM:306600 removed from database -OMIM:308210 removed from database -OMIM:308400 removed from database -OMIM:311700 removed from database -OMIM:312030 removed from database -OMIM:312530 removed from database -OMIM:313450 removed from database -OMIM:313460 removed from database -OMIM:313550 removed from database -OMIM:314350 removed from database -OMIM:314920 removed from database -OMIM:314940 removed from database -OMIM:314960 removed from database -OMIM:400000 removed from database -OMIM:424000 removed from database -OMIM:510000 removed from database -OMIM:600261 removed from database -OMIM:600499 removed from database -OMIM:600606 removed from database -OMIM:601050 removed from database -OMIM:601106 removed from database -OMIM:601169 removed from database -OMIM:601294 removed from database -OMIM:602029 removed from database -OMIM:602147 removed from database -OMIM:602456 removed from database -OMIM:603653 removed from database -OMIM:603793 removed from database -OMIM:603986 removed from database -OMIM:603990 removed from database -OMIM:604006 removed from database -OMIM:604007 removed from database -OMIM:604338 removed from database -OMIM:604339 removed from database -OMIM:604340 removed from database -OMIM:604341 removed from database -OMIM:604342 removed from database -OMIM:604343 removed from database -OMIM:605177 removed from database -OMIM:608297 removed from database -OMIM:609830 removed from database -OMIM:615971 removed from database -OMIM:616018 removed from database -OMIM:618428 removed from database OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:619446 retinal dystrophy and microvillus inclusion disease OMIM:620102 retinitis pigmentosa 95 @@ -350,16 +277,28 @@ OMIM:619489 short stature, dauber-argente iia OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM:619464 sick sinus syndrome 4 OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia +OMIM:619966 spastic paraplegia 87, autosomal recessive OMIM:620106 spastic paraplegia 88, autosomal dominant +OMIM:619937 spermatogenic failure 74 +OMIM:619949 spermatogenic failure 75 +OMIM:620084 spermatogenic failure 76 +OMIM:620103 spermatogenic failure 77 OMIM:620170 spermatogenic failure 78 OMIM:620196 spermatogenic failure 79 OMIM:620222 spermatogenic failure 80 +OMIM:620277 spermatogenic failure 81 +OMIM:301099 spermatogenic failure, x-linked, 5 +OMIM:301101 spermatogenic failure, x-linked, 6 OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 OMIM:620174 spinocerebellar ataxia 27b, late-onset +OMIM:619806 spinocerebellar ataxia 49 OMIM:620158 spinocerebellar ataxia 50 OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 +OMIM:620022 stickler syndrome, iia 6 OMIM:301080 systemic lupus erythematosus 17 +OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 +OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 OMIM:301071 thrombophilia, x-linked, due to factor 8 defect OMIM:620198 thyroid hormone metabolism, abnormal, 3 OMIM:620173 tooth agenesis, selective, 10 @@ -370,17 +309,27 @@ OMIM:619501 ventriculomegaly and arthrogryposis OMIM:619400 visceral leiomyopathy, african degenerative OMIM:619350 visceral myopathy 2 OMIM:619472 viss syndrome +OMIM:619947 waardenburg syndrome, iia 2f OMIM:619426 white-kernohan syndrome OMIM:619701 yoon-bellen neurodevelopmental syndrome OMIM:619648 zaki syndrome +OMIMPS:117000 +OMIMPS:136550 +OMIMPS:142340 OMIMPS:146590 OMIMPS:149730 +OMIMPS:167870 +OMIMPS:212093 OMIMPS:213980 OMIMPS:226400 OMIMPS:232200 OMIMPS:254940 +OMIMPS:256550 OMIMPS:267750 OMIMPS:300491 +OMIMPS:601457 OMIMPS:607602 +OMIMPS:614592 OMIMPS:616901 +OMIMPS:619980 OMIMPS:620184 diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index b6cff4f3..12d81247 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -420,6 +420,7 @@ MONDO:0017984 Orphanet:3267 MONDO:equivalentObsolete MONDO:0017995 Orphanet:329252 MONDO:equivalentObsolete MONDO:0017996 Orphanet:329255 MONDO:equivalentObsolete MONDO:0018003 Orphanet:329341 MONDO:equivalentObsolete +MONDO:0018046 Orphanet:3323 MONDO:equivalentObsolete MONDO:0018070 Orphanet:338 MONDO:equivalentObsolete MONDO:0018100 Orphanet:34526 MONDO:equivalentObsolete MONDO:0018101 Orphanet:34527 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 88cecb29..2b0ee03f 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -1,5 +1,4 @@ subject_id subject_label is_mapped is_excluded is_deprecated -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis False False False Orphanet:183466 Genetic hyperpigmentation of the skin False False False Orphanet:183469 Genetic hypopigmentation of the skin False False False Orphanet:183481 Genetic mixed dermis disorder False False False @@ -214,6 +213,7 @@ Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine re Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome False False False Orphanet:C001 False False False Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk False True False +Orphanet:158038 Primary hemophagocytic lymphohistiocytosis False True False Orphanet:158048 Hemophagocytic syndrome associated with an infection False True False Orphanet:182222 Rare systemic disease False True False Orphanet:206634 Genetic skeletal muscle disease False True False @@ -705,7 +705,6 @@ Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 False True Tru Orphanet:330009 OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk False True True Orphanet:3311 OBSOLETE: Infantile symmetrical thalamic degeneration False True True Orphanet:3313 OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome False True True -Orphanet:3323 Braddock-Carey syndrome False True True Orphanet:3331 OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome False True True Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome False True True Orphanet:3333 Connective tissue dysplasia, Spellacy type False True True @@ -2160,6 +2159,7 @@ Orphanet:1682 Arterial dissection-lentiginosis syndrome True False False Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome True False False Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome True False False Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type True False False +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis True False False Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis True False False Orphanet:1685 Distomatosis True False False Orphanet:168544 Spondylometaphyseal dysplasia, Golden type True False False @@ -10037,7 +10037,6 @@ Orphanet:108969 Syndromic intestinal malformation True True False Orphanet:108971 Non-syndromic visceral malformation True True False Orphanet:117573 Syndromic anorectal malformation True True False Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis True True False -Orphanet:158038 Primary hemophagocytic lymphohistiocytosis True True False Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption True True False Orphanet:164823 Rare acquired aplastic anemia True True False Orphanet:165704 Non-syndromic urogenital tract malformation True True False @@ -10571,6 +10570,7 @@ Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B d Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies True True True Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True Orphanet:3315 OBSOLETE: Thiopurine S-methyltransferase deficiency True True True +Orphanet:3323 Braddock-Carey syndrome True True True Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease True True True Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus True True True Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries True True True diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index f94b337a..ae45943d 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -26,7 +26,6 @@ Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndro Orphanet:498491 Complete hemimelia Orphanet:306644 Complication after organ transplantation Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis Orphanet:519333 Congenital optic disc excavation Orphanet:522514 Congenital optic disc excavation of genetic origin Orphanet:617910 Conjunctival malignant melanoma diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index f8fb26b2..6b639b89 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -4,7 +4,6 @@ MONDO:0850061 nipah virus encephalitis DOID:0050192 MONDO:equivalentTo Nipah vir MONDO:0850062 atypical autism DOID:0060042 MONDO:equivalentTo atypical autism MONDO:0005258 MONDO:0850063 amyotrophic lateral sclerosis type 13 DOID:0060204 MONDO:equivalentTo amyotrophic lateral sclerosis type 13 MONDO:0004976 MONDO:0850085 autosomal dominant dyskeratosis congenita 4 DOID:0070020 MONDO:equivalentTo autosomal dominant dyskeratosis congenita 4 MONDO:0015780|MONDO:0000426 -MONDO:0850086 autosomal dominant cutis laxa 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 MONDO:0019571 MONDO:0850091 hereditary lymphedema i DOID:0070212 MONDO:equivalentTo hereditary lymphedema I MONDO:0019313 MONDO:0850092 post-cardiac arrest syndrome DOID:0070306 MONDO:equivalentTo post-cardiac arrest syndrome MONDO:0002254 MONDO:0850093 absence epilepsy DOID:0070309 MONDO:equivalentTo absence epilepsy MONDO:0000411 @@ -145,7 +144,7 @@ MONDO:0850239 hereditary diffuse gastric cancer DOID:0080764 MONDO:equivalentTo MONDO:0850240 autosomal recessive intellectual developmental disorder 72 DOID:0080765 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 72 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. MONDO:0019502 MONDO:0850241 erythrokeratodermia variabilis et progressiva 6 DOID:0080766 MONDO:equivalentTo erythrokeratodermia variabilis et progressiva 6 An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. MONDO:0000426|MONDO:0017851 MONDO:0850242 autoimmune myocarditis DOID:0080767 MONDO:equivalentTo autoimmune myocarditis An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. MONDO:0004496|MONDO:0000603 -MONDO:0850243 pyridoxine-dependent epilepsy DOID:0080768 MONDO:equivalentTo pyridoxine-dependent epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. MONDO:0005027|MONDO:0006025 +MONDO:0850243 pyridoxine-dependent epilepsy DOID:0080768 MONDO:equivalentTo pyridoxine-dependent epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. MONDO:0006025|MONDO:0005027 MONDO:0850244 early-onset vitamin b6-dependent epilepsy DOID:0080769 MONDO:equivalentTo early-onset vitamin B6-dependent epilepsy An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. MONDO:0005027|MONDO:0006025 MONDO:0850245 autosomal dominant beta thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. MONDO:0019402|MONDO:0000426 MONDO:0850246 beta-thalassemia major DOID:0080771 MONDO:equivalentTo beta-thalassemia major A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. MONDO:0019402 @@ -340,7 +339,7 @@ MONDO:0850437 congenital fibrosis of the extraocular muscles 3a DOID:0081017 MON MONDO:0850438 congenital fibrosis of the extraocular muscles 3c DOID:0081019 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 3C A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). MONDO:0007614|MONDO:0000426 MONDO:0850439 congenital fibrosis of the extraocular muscles 5 DOID:0081020 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 5 A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. MONDO:0007614|MONDO:0006025 MONDO:0850440 tukel syndrome DOID:0081021 MONDO:equivalentTo Tukel syndrome A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. MONDO:0007614|MONDO:0006025 -MONDO:0850441 retinal cone dystrophy 3b DOID:0081022 MONDO:equivalentTo retinal cone dystrophy 3B A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. MONDO:0000455|MONDO:0006025 +MONDO:0850441 retinal cone dystrophy 3b DOID:0081022 MONDO:equivalentTo retinal cone dystrophy 3B A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. MONDO:0006025|MONDO:0000455 MONDO:0850442 retinal cone dystrophy 4 DOID:0081023 MONDO:equivalentTo retinal cone dystrophy 4 A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. MONDO:0000455 MONDO:0850443 retinal cone dystrophy 1 DOID:0081024 MONDO:equivalentTo retinal cone dystrophy 1 A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. MONDO:0000455|MONDO:0000426 MONDO:0850444 retinal cone dystrophy 3a DOID:0081025 MONDO:equivalentTo retinal cone dystrophy 3A A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. MONDO:0000455 @@ -532,7 +531,7 @@ MONDO:0850629 autosomal dominant hyaline body myopathy DOID:0111269 MONDO:equiva MONDO:0850630 speech-language disorder-1 DOID:0111275 MONDO:equivalentTo speech-language disorder-1 MONDO:0000426|MONDO:0004730 MONDO:0850631 histiocytosis-lymphadenopathy plus syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome MONDO:0006025|MONDO:0002254 MONDO:0850632 hereditary desmoid disease DOID:0111349 MONDO:equivalentTo hereditary desmoid disease MONDO:0002254|MONDO:0000429 -MONDO:0850633 hyperalphalipoproteinemia 1 DOID:0111369 MONDO:equivalentTo hyperalphalipoproteinemia 1 MONDO:0000426|MONDO:0007744 +MONDO:0850633 hyperalphalipoproteinemia 1 DOID:0111369 MONDO:equivalentTo hyperalphalipoproteinemia 1 MONDO:0007744|MONDO:0000426 MONDO:0850634 x-linked hypoparathyroidism DOID:0111388 MONDO:equivalentTo X-linked hypoparathyroidism MONDO:0001220|MONDO:0000425 MONDO:0850635 familial apolipoprotein a5 deficiency DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency MONDO:0018637|MONDO:0000426 MONDO:0850636 progressive myoclonus epilepsy 4 DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 MONDO:0006025|MONDO:0020074 @@ -621,7 +620,7 @@ MONDO:0850719 primary ciliary dyskinesia 41 DOID:0111858 MONDO:equivalentTo prim MONDO:0850720 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis DOID:0111859 MONDO:equivalentTo midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0002254|MONDO:0020605 MONDO:0850721 amme complex DOID:0111860 MONDO:equivalentTo AMME complex MONDO:0000761|MONDO:0002254 MONDO:0850722 meester-loeys syndrome DOID:0111861 MONDO:equivalentTo Meester-Loeys syndrome MONDO:0002254|MONDO:0000425 -MONDO:0850723 congenital bilateral absence of vas deferens DOID:0111862 MONDO:equivalentTo congenital bilateral absence of vas deferens MONDO:0100459|MONDO:0000425 +MONDO:0850723 congenital bilateral absence of vas deferens DOID:0111862 MONDO:equivalentTo congenital bilateral absence of vas deferens MONDO:0005372|MONDO:0000425 MONDO:0850724 mend syndrome DOID:0111865 MONDO:equivalentTo MEND syndrome MONDO:0002525|MONDO:0020605 MONDO:0850725 trichothiodystrophy DOID:0111866 MONDO:equivalentTo trichothiodystrophy MONDO:0002254 MONDO:0850726 photosensitive trichothiodystrophy 2 DOID:0111869 MONDO:equivalentTo photosensitive trichothiodystrophy 2 MONDO:0002470|MONDO:0006025 @@ -799,7 +798,7 @@ MONDO:0850897 sotos syndrome 2 DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 MONDO:0850898 sotos syndrome 1 DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 MONDO:0019349|MONDO:0000426 MONDO:0850899 sotos syndrome 3 DOID:0112104 MONDO:equivalentTo Sotos syndrome 3 MONDO:0019349|MONDO:0006025 MONDO:0850900 x-linked parkinsonism-spasticity syndrome DOID:0112105 MONDO:equivalentTo X-linked parkinsonism-spasticity syndrome MONDO:0005395|MONDO:0020605 -MONDO:0850901 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0002254|MONDO:0020604 +MONDO:0850901 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0020603 MONDO:0850902 mcleod syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome MONDO:0016987|MONDO:0000425 MONDO:0850903 myofibrillar myopathy 10 DOID:0112108 MONDO:equivalentTo myofibrillar myopathy 10 MONDO:0018943|MONDO:0006025 MONDO:0850904 spermatogenic failure 44 DOID:0112109 MONDO:equivalentTo spermatogenic failure 44 MONDO:0004983|MONDO:0006025 @@ -814,7 +813,7 @@ MONDO:0850912 combined oxidative phosphorylation deficiency 40 DOID:0112117 MOND MONDO:0850913 combined oxidative phosphorylation deficiency 42 DOID:0112118 MONDO:equivalentTo combined oxidative phosphorylation deficiency 42 MONDO:0000732|MONDO:0006025 MONDO:0850914 combined oxidative phosphorylation deficiency 41 DOID:0112119 MONDO:equivalentTo combined oxidative phosphorylation deficiency 41 MONDO:0000732|MONDO:0006025 MONDO:0850915 shox-related short stature DOID:0112120 MONDO:equivalentTo SHOX-related short stature MONDO:0005497 -MONDO:0850916 nephrogenic syndrome of inappropriate antidiuresis DOID:0112121 MONDO:equivalentTo nephrogenic syndrome of inappropriate antidiuresis MONDO:0020605|MONDO:0006510 +MONDO:0850916 nephrogenic syndrome of inappropriate antidiuresis DOID:0112121 MONDO:equivalentTo nephrogenic syndrome of inappropriate antidiuresis MONDO:0006510|MONDO:0020605 MONDO:0850917 x-linked epilepsy with variable learning disabilities and behavior disorders DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders MONDO:0005027|MONDO:0000425 MONDO:0850918 deafness, dystonia, and cerebral hypomyelination DOID:0112123 MONDO:equivalentTo deafness, dystonia, and cerebral hypomyelination MONDO:0002254|MONDO:0020604 MONDO:0850919 x-linked retinitis pigmentosa and sinorespiratory infections DOID:0112124 MONDO:equivalentTo X-linked retinitis pigmentosa and sinorespiratory infections MONDO:0002254|MONDO:0000425 @@ -865,7 +864,7 @@ MONDO:0850963 noonan syndrome 12 DOID:0112170 MONDO:equivalentTo Noonan syndrome MONDO:0850964 wrinkly skin syndrome DOID:0112171 MONDO:equivalentTo wrinkly skin syndrome MONDO:0002254|MONDO:0006025 MONDO:0850965 hereditary combined deficiency of vitamin k-dependent clotting factors DOID:0112172 MONDO:equivalentTo hereditary combined deficiency of vitamin K-dependent clotting factors MONDO:0001531 MONDO:0850966 spermatogenic failure 47 DOID:0112175 MONDO:equivalentTo spermatogenic failure 47 MONDO:0004983|MONDO:0006025 -MONDO:0850967 spermatogenic failure 48 DOID:0112176 MONDO:equivalentTo spermatogenic failure 48 MONDO:0100459|MONDO:0006025 +MONDO:0850967 spermatogenic failure 48 DOID:0112176 MONDO:equivalentTo spermatogenic failure 48 MONDO:0004983|MONDO:0006025 MONDO:0850968 mayer-rokitansky-kuster-hauser syndrome DOID:0112177 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0002254 MONDO:0850969 urocanase deficiency DOID:0112180 MONDO:equivalentTo urocanase deficiency MONDO:0006025|MONDO:0019228 MONDO:0850970 schinzel type phocomelia DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia MONDO:0002254|MONDO:0006025 @@ -900,10 +899,10 @@ MONDO:0850998 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MON MONDO:0850999 gapo syndrome DOID:0112249 MONDO:equivalentTo GAPO syndrome MONDO:0002254|MONDO:0006025 MONDO:0851000 gaucher's disease type iiic DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC MONDO:0009267 MONDO:0851001 ghosal hematodiaphyseal syndrome DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome MONDO:0002254|MONDO:0006025 -MONDO:0851002 hepatic venoocclusive disease with immunodeficiency DOID:0112254 MONDO:equivalentTo hepatic venoocclusive disease with immunodeficiency MONDO:0002254|MONDO:0006025 +MONDO:0851002 hepatic venoocclusive disease with immunodeficiency DOID:0112254 MONDO:equivalentTo hepatic venoocclusive disease with immunodeficiency MONDO:0006025|MONDO:0002254 MONDO:0851003 homocystinuria-megaloblastic anemia cble type DOID:0112255 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblE type MONDO:0004736|MONDO:0006025 MONDO:0851004 homocystinuria-megaloblastic anemia cblg type DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type MONDO:0004736|MONDO:0006025 -MONDO:0851005 hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria MONDO:0004736|MONDO:0006025 +MONDO:0851005 hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria MONDO:0006025|MONDO:0004736 MONDO:0851006 n-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency MONDO:0006025|MONDO:0004739 MONDO:0851007 leydig cell hypoplasia DOID:0112259 MONDO:equivalentTo Leydig cell hypoplasia MONDO:0006025|MONDO:0005518 MONDO:0851008 leucine-sensitive hypoglycemia of infancy DOID:0112262 MONDO:equivalentTo leucine-sensitive hypoglycemia of infancy MONDO:0004736|MONDO:0000426 @@ -914,9 +913,9 @@ MONDO:0851012 nephrotic syndrome type 23 DOID:0112266 MONDO:equivalentTo nephrot MONDO:0851013 nephrotic syndrome type 21 DOID:0112267 MONDO:equivalentTo nephrotic syndrome type 21 MONDO:0002350|MONDO:0006025 MONDO:0851014 nephrotic syndrome type 22 DOID:0112268 MONDO:equivalentTo nephrotic syndrome type 22 MONDO:0002350|MONDO:0006025 MONDO:0851015 primary ovarian insufficiency 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 MONDO:0005387|MONDO:0006025 -MONDO:0851016 spermatogenic failure 52 DOID:0112270 MONDO:equivalentTo spermatogenic failure 52 MONDO:0100459|MONDO:0006025 +MONDO:0851016 spermatogenic failure 52 DOID:0112270 MONDO:equivalentTo spermatogenic failure 52 MONDO:0004983|MONDO:0006025 MONDO:0851017 spermatogenic failure 49 DOID:0112271 MONDO:equivalentTo spermatogenic failure 49 MONDO:0004983|MONDO:0006025 -MONDO:0851018 spermatogenic failure 50 DOID:0112272 MONDO:equivalentTo spermatogenic failure 50 MONDO:0100459|MONDO:0006025 +MONDO:0851018 spermatogenic failure 50 DOID:0112272 MONDO:equivalentTo spermatogenic failure 50 MONDO:0004983|MONDO:0006025 MONDO:0851019 spermatogenic failure 51 DOID:0112273 MONDO:equivalentTo spermatogenic failure 51 MONDO:0004983|MONDO:0006025 MONDO:0851020 x-linked spermatogenic failure 3 DOID:0112274 MONDO:equivalentTo X-linked spermatogenic failure 3 MONDO:0004983|MONDO:0020605 MONDO:0851021 neurodevelopmental disorder with involuntary movements DOID:0112276 MONDO:equivalentTo neurodevelopmental disorder with involuntary movements MONDO:0005395|MONDO:0000426 @@ -967,14 +966,14 @@ MONDO:0851065 hereditary spastic paraplegia 83 DOID:0112346 MONDO:equivalentTo h MONDO:0851066 hereditary spastic paraplegia 84 DOID:0112347 MONDO:equivalentTo hereditary spastic paraplegia 84 MONDO:0019064|MONDO:0006025 MONDO:0851067 hereditary spastic paraplegia 78 DOID:0112348 MONDO:equivalentTo hereditary spastic paraplegia 78 MONDO:0019064|MONDO:0006025 MONDO:0851068 hereditary spastic paraplegia 81 DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 MONDO:0006025|MONDO:0019064 -MONDO:0851069 spermatogenic failure 61 DOID:0112350 MONDO:equivalentTo spermatogenic failure 61 MONDO:0100459|MONDO:0006025 -MONDO:0851070 spermatogenic failure 62 DOID:0112351 MONDO:equivalentTo spermatogenic failure 62 MONDO:0100459|MONDO:0006025 +MONDO:0851069 spermatogenic failure 61 DOID:0112350 MONDO:equivalentTo spermatogenic failure 61 MONDO:0004983|MONDO:0006025 +MONDO:0851070 spermatogenic failure 62 DOID:0112351 MONDO:equivalentTo spermatogenic failure 62 MONDO:0004983|MONDO:0006025 MONDO:0851071 spermatogenic failure 58 DOID:0112352 MONDO:equivalentTo spermatogenic failure 58 MONDO:0004983|MONDO:0006025 MONDO:0851072 spermatogenic failure 64 DOID:0112353 MONDO:equivalentTo spermatogenic failure 64 MONDO:0004983|MONDO:0006025 MONDO:0851073 spermatogenic failure 65 DOID:0112354 MONDO:equivalentTo spermatogenic failure 65 MONDO:0004983|MONDO:0006025 -MONDO:0851074 spermatogenic failure 60 DOID:0112355 MONDO:equivalentTo spermatogenic failure 60 MONDO:0100459|MONDO:0006025 +MONDO:0851074 spermatogenic failure 60 DOID:0112355 MONDO:equivalentTo spermatogenic failure 60 MONDO:0004983|MONDO:0006025 MONDO:0851075 spermatogenic failure 63 DOID:0112356 MONDO:equivalentTo spermatogenic failure 63 MONDO:0004983|MONDO:0006025 -MONDO:0851076 spermatogenic failure 59 DOID:0112357 MONDO:equivalentTo spermatogenic failure 59 MONDO:0100459|MONDO:0006025 +MONDO:0851076 spermatogenic failure 59 DOID:0112357 MONDO:equivalentTo spermatogenic failure 59 MONDO:0004983|MONDO:0006025 MONDO:0851077 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies DOID:0112358 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:0002254|MONDO:0006025 MONDO:0851078 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID:0112359 MONDO:equivalentTo congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0002254|MONDO:0000426 MONDO:0851079 spondylocostal dysostosis 6 DOID:0112360 MONDO:equivalentTo spondylocostal dysostosis 6 MONDO:0006025|MONDO:0000359 @@ -1006,94 +1005,77 @@ MONDO:0851104 benign vascular tumor DOID:60006 MONDO:equivalentTo benign vascula MONDO:0851105 cerebrovascular benign neoplasm DOID:60007 MONDO:equivalentTo cerebrovascular benign neoplasm MONDO:0000629 MONDO:0851106 desmoplastic small round cell tumor DOID:6785 MONDO:equivalentTo desmoplastic small round cell tumor A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. MONDO:0005089 MONDO:0851107 anaplastic oligodendroglioma DOID:7154 MONDO:equivalentTo anaplastic oligodendroglioma An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). MONDO:0016695 -MONDO:0858910 dropped head syndrome DOID:0060034 MONDO:equivalentTo dropped head syndrome A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. -MONDO:0858911 overactive bladder syndrome DOID:0070355 MONDO:equivalentTo overactive bladder syndrome A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. -MONDO:0858912 peroxisome biogenesis disorder 1b DOID:0081240 MONDO:equivalentTo peroxisome biogenesis disorder 1B A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. -MONDO:0858913 peroxisome biogenesis disorder 3b DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. -MONDO:0858914 autoimmune interstitial lung, joint, and kidney disease DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. -MONDO:0858915 rhizomelic chondrodysplasia punctate type 4 DOID:0081243 MONDO:equivalentTo rhizomelic chondrodysplasia punctate type 4 A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. -MONDO:0858916 pituitary blastoma DOID:0081244 MONDO:equivalentTo pituitary blastoma A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. -MONDO:0858917 cauda equina neuroendocrine tumor DOID:0081245 MONDO:equivalentTo cauda equina neuroendocrine tumor A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. -MONDO:0858918 teratoma with somatic-type malignancy DOID:0081246 MONDO:equivalentTo teratoma with somatic-type malignancy A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. -MONDO:0858919 dedifferentiated chondrosarcoma DOID:0081247 MONDO:equivalentTo dedifferentiated chondrosarcoma A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. -MONDO:0858920 pineocytoma DOID:0081248 MONDO:equivalentTo pineocytoma An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. -MONDO:0858921 ewsr1-negative small round cell tumor DOID:0081249 MONDO:equivalentTo EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. -MONDO:0858922 papillary tumor of the pineal region DOID:0081251 MONDO:equivalentTo papillary tumor of the pineal region A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. -MONDO:0858923 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. -MONDO:0858924 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. -MONDO:0858925 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. -MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome DOID:0081264 MONDO:equivalentTo developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). -MONDO:0858927 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 MONDO:equivalentTo intellectual developmental disorder with abnormal behavior, microcephaly, and short stature An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. -MONDO:0858928 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 MONDO:equivalentTo pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. -MONDO:0858929 graft-versus-host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. -MONDO:0858930 pulmonary venoocclusive disease 1 DOID:0081268 MONDO:equivalentTo pulmonary venoocclusive disease 1 A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. -MONDO:0858931 pulmonary venoocclusive disease 2 DOID:0081269 MONDO:equivalentTo pulmonary venoocclusive disease 2 A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. -MONDO:0858932 smith-mccort dysplasia 1 DOID:0081270 MONDO:equivalentTo Smith-McCort dysplasia 1 A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. -MONDO:0858933 smith-mccort dysplasia 2 DOID:0081271 MONDO:equivalentTo Smith-McCort dysplasia 2 A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. -MONDO:0858934 sandestig-stefanova syndrome DOID:0081272 MONDO:equivalentTo Sandestig-Stefanova syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. -MONDO:0858935 siddiqi syndrome DOID:0081273 MONDO:equivalentTo Siddiqi syndrome A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. -MONDO:0858936 peroxisome biogenesis disorder 14b DOID:0081274 MONDO:equivalentTo peroxisome biogenesis disorder 14B A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. -MONDO:0858937 neurodevelopmental disorder with eye movement abnormalities and ataxia DOID:0081275 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. -MONDO:0858938 cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 MONDO:equivalentTo cerebellar atrophy, visual impairment, and psychomotor retardation A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation. -MONDO:0858939 diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype DOID:0081277 MONDO:equivalentTo diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. -MONDO:0858940 infant-type hemispheric glioma DOID:0081278 MONDO:equivalentTo infant-type hemispheric glioma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. -MONDO:0858941 pituicytoma DOID:0081280 MONDO:equivalentTo pituicytoma A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. -MONDO:0858942 papillary glioneuronal tumor DOID:0081283 MONDO:equivalentTo papillary glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. -MONDO:0858943 rosette-forming glioneuronal tumor DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. -MONDO:0858944 myxoid glioneuronal tumor DOID:0081285 MONDO:equivalentTo myxoid glioneuronal tumor A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. -MONDO:0858945 embryonal tumor with multilayered rosettes DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. -MONDO:0858946 white sponge nevus 1 DOID:0081287 MONDO:equivalentTo white sponge nevus 1 A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. -MONDO:0858947 white sponge nevus 2 DOID:0081288 MONDO:equivalentTo white sponge nevus 2 A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. -MONDO:0858948 antley-bixler syndrome DOID:0081289 MONDO:equivalentTo Antley-Bixler syndrome A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. -MONDO:0858949 chronic traumatic encephalopathy DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. -MONDO:0858950 traumatic brain injury DOID:0081292 MONDO:equivalentTo traumatic brain injury A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. -MONDO:0858951 salivary gland mucoepidermoid carcinoma DOID:0081293 MONDO:equivalentTo salivary gland mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the salivary gland. -MONDO:0858952 neuronal intranuclear inclusion disease DOID:0081294 MONDO:equivalentTo neuronal intranuclear inclusion disease A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. -MONDO:0858953 essential tremor 6 DOID:0081295 MONDO:equivalentTo essential tremor 6 An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. -MONDO:0858954 oculopharyngodistal myopathy DOID:0081296 MONDO:equivalentTo oculopharyngodistal myopathy A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. -MONDO:0858955 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0081301 MONDO:equivalentTo intellectual developmental disorder with ocular anomalies and distinctive facial features A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. -MONDO:0858956 diffuse leptomeningeal glioneuronal tumor DOID:0081302 MONDO:equivalentTo diffuse leptomeningeal glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. -MONDO:0858957 multinodular and vacuolating neuronal tumor DOID:0081303 MONDO:equivalentTo multinodular and vacuolating neuronal tumor A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. -MONDO:0858958 high-grade astrocytoma with piloid features DOID:0081304 MONDO:equivalentTo high-grade astrocytoma with piloid features An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. -MONDO:0858959 polymorphous low grade neuroepithelial tumour of the young DOID:0081305 MONDO:equivalentTo polymorphous low grade neuroepithelial tumour of the young A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. -MONDO:0858960 spindle cell oncocytoma DOID:0081306 MONDO:equivalentTo spindle cell oncocytoma A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. -MONDO:0858961 lymphomatoid granulomatosis DOID:0081307 MONDO:equivalentTo lymphomatoid granulomatosis A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. -MONDO:0858962 intravascular large b-cell lymphoma DOID:0081311 MONDO:equivalentTo intravascular large B-cell lymphoma A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. -MONDO:0858963 t-cell non-hodgkin lymphoma DOID:0081312 MONDO:equivalentTo T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. -MONDO:0858964 primary diffuse large b-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. -MONDO:0858965 extraventricular neurocytoma DOID:0081314 MONDO:equivalentTo extraventricular neurocytoma A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. -MONDO:0858966 central nervous system tumor with bcor internal tandem duplication DOID:0081315 MONDO:equivalentTo central nervous system tumor with BCOR internal tandem duplication A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. -MONDO:0858967 primary intracranial sarcoma, dicer1-mutant DOID:0081316 MONDO:equivalentTo primary intracranial sarcoma, DICER1-mutant A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. -MONDO:0858968 multiple synostoses syndrome 1 DOID:0081317 MONDO:equivalentTo multiple synostoses syndrome 1 A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. -MONDO:0858969 multiple synostoses syndrome 2 DOID:0081318 MONDO:equivalentTo multiple synostoses syndrome 2 A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. -MONDO:0858970 multiple synostoses syndrome 3 DOID:0081319 MONDO:equivalentTo multiple synostoses syndrome 3 A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. -MONDO:0858971 multiple synostoses syndrome 4 DOID:0081320 MONDO:equivalentTo multiple synostoses syndrome 4 A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. -MONDO:0858972 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a DOID:0081321 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. -MONDO:0858973 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. -MONDO:0858974 breast implant illness DOID:0081323 MONDO:equivalentTo breast implant illness A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. -MONDO:0858975 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081324 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. -MONDO:0858976 oxoglutarate dehydrogenase deficiency DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. -MONDO:0858977 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. -MONDO:0858980 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. -MONDO:0859395 astrocytoma, idh-mutant, grade 4 DOID:0080877 MONDO:equivalentTo astrocytoma, IDH-mutant, grade 4 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. MONDO:0018177 -MONDO:0859396 cic-rearranged sarcoma DOID:0081250 MONDO:equivalentTo CIC-rearranged sarcoma An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. -MONDO:0859397 supratentorial ependymoma, zfta fusion–positive DOID:0081252 MONDO:equivalentTo supratentorial ependymoma, ZFTA fusion–positive A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. -MONDO:0859398 supratentorial ependymoma, yap1 fusion–positive DOID:0081253 MONDO:equivalentTo supratentorial ependymoma, YAP1 fusion–positive A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. -MONDO:0859399 posterior fossa group a ependymoma DOID:0081254 MONDO:equivalentTo posterior fossa group A ependymoma A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. -MONDO:0859400 posterior fossa group b ependymoma DOID:0081255 MONDO:equivalentTo posterior fossa group B ependymoma A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. -MONDO:0859401 astrocytoma, idh-mutant, grade 2 DOID:0081256 MONDO:equivalentTo astrocytoma, IDH-mutant, grade 2 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. -MONDO:0859402 astrocytoma, idh-mutant, grade 3 DOID:0081257 MONDO:equivalentTo astrocytoma, IDH-mutant, grade 3 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. -MONDO:0859403 diffuse low-grade glioma, mapk pathway–altered DOID:0081260 MONDO:equivalentTo diffuse low-grade glioma, MAPK pathway–altered A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. -MONDO:0859404 angiocentric glioma DOID:0081261 MONDO:equivalentTo angiocentric glioma A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. -MONDO:0859405 diffuse astrocytoma, myb- or mybl1-altered DOID:0081279 MONDO:equivalentTo diffuse astrocytoma, MYB- or MYBL1-altered A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. -MONDO:0859406 oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 DOID:0081281 MONDO:equivalentTo oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). -MONDO:0859407 oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 DOID:0081282 MONDO:equivalentTo oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. -MONDO:0859408 antley-bixler syndrome without disordered steroidogenesis DOID:0081290 MONDO:equivalentTo Antley-Bixler syndrome without disordered steroidogenesis An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. -MONDO:0859409 oculopharyngodistal myopathy 1 DOID:0081297 MONDO:equivalentTo oculopharyngodistal myopathy 1 An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. -MONDO:0859410 oculopharyngodistal myopathy 2 DOID:0081298 MONDO:equivalentTo oculopharyngodistal myopathy 2 An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. -MONDO:0859411 oculopharyngodistal myopathy 3 DOID:0081299 MONDO:equivalentTo oculopharyngodistal myopathy 3 An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. -MONDO:0859412 oculopharyngodistal myopathy 4 DOID:0081300 MONDO:equivalentTo oculopharyngodistal myopathy 4 An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. -MONDO:0859413 grade i lymphomatoid granulomatosis DOID:0081308 MONDO:equivalentTo grade I lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. -MONDO:0859414 grade ii lymphomatoid granulomatosis DOID:0081309 MONDO:equivalentTo grade II lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. -MONDO:0859415 grade iii lymphomatoid granulomatosis DOID:0081310 MONDO:equivalentTo grade III lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. -MONDO:0859416 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:equivalentTo developmental and epileptic encephalopathy 94 A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. +MONDO:0858910 dropped head syndrome DOID:0060034 MONDO:equivalentTo dropped head syndrome A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. MONDO:0000812 +MONDO:0858911 overactive bladder syndrome DOID:0070355 MONDO:equivalentTo overactive bladder syndrome A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. MONDO:0002254|MONDO:0006026 +MONDO:0858912 peroxisome biogenesis disorder 1b DOID:0081240 MONDO:equivalentTo peroxisome biogenesis disorder 1B A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. MONDO:0019234|MONDO:0006025 +MONDO:0858913 peroxisome biogenesis disorder 3b DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. MONDO:0019234|MONDO:0006025 +MONDO:0858914 autoimmune interstitial lung, joint, and kidney disease DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. MONDO:0007179|MONDO:0000426|MONDO:0002254 +MONDO:0858915 rhizomelic chondrodysplasia punctate type 4 DOID:0081243 MONDO:equivalentTo rhizomelic chondrodysplasia punctate type 4 A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. MONDO:0015776 +MONDO:0858916 pituitary blastoma DOID:0081244 MONDO:equivalentTo pituitary blastoma A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. MONDO:0002109|MONDO:0005565 +MONDO:0858917 cauda equina neuroendocrine tumor DOID:0081245 MONDO:equivalentTo cauda equina neuroendocrine tumor A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. MONDO:0003164 +MONDO:0858918 teratoma with somatic-type malignancy DOID:0081246 MONDO:equivalentTo teratoma with somatic-type malignancy A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. MONDO:0002601 +MONDO:0858919 dedifferentiated chondrosarcoma DOID:0081247 MONDO:equivalentTo dedifferentiated chondrosarcoma A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. MONDO:0008977 +MONDO:0858920 pineocytoma DOID:0081248 MONDO:equivalentTo pineocytoma An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. MONDO:0000627 +MONDO:0858921 ewsr1-negative small round cell tumor DOID:0081249 MONDO:equivalentTo EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. MONDO:0006974 +MONDO:0858922 papillary tumor of the pineal region DOID:0081251 MONDO:equivalentTo papillary tumor of the pineal region A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. MONDO:0003249 +MONDO:0858923 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. MONDO:0016733 +MONDO:0858924 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. MONDO:0015802 +MONDO:0858925 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. MONDO:0019502 +MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome DOID:0081264 MONDO:equivalentTo developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). MONDO:0002254 +MONDO:0858927 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 MONDO:equivalentTo intellectual developmental disorder with abnormal behavior, microcephaly, and short stature An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. MONDO:0019502 +MONDO:0858928 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 MONDO:equivalentTo pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. MONDO:0018838 +MONDO:0858929 graft-versus-host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. MONDO:0005046 +MONDO:0858930 pulmonary venoocclusive disease 1 DOID:0081268 MONDO:equivalentTo pulmonary venoocclusive disease 1 A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. MONDO:0009937|MONDO:0000426 +MONDO:0858931 pulmonary venoocclusive disease 2 DOID:0081269 MONDO:equivalentTo pulmonary venoocclusive disease 2 A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. MONDO:0009937|MONDO:0006025 +MONDO:0858932 smith-mccort dysplasia 1 DOID:0081270 MONDO:equivalentTo Smith-McCort dysplasia 1 A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. MONDO:0015799 +MONDO:0858933 smith-mccort dysplasia 2 DOID:0081271 MONDO:equivalentTo Smith-McCort dysplasia 2 A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. MONDO:0015799 +MONDO:0858934 sandestig-stefanova syndrome DOID:0081272 MONDO:equivalentTo Sandestig-Stefanova syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. MONDO:0002254|MONDO:0006025 +MONDO:0858935 siddiqi syndrome DOID:0081273 MONDO:equivalentTo Siddiqi syndrome A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. MONDO:0019245 +MONDO:0858936 peroxisome biogenesis disorder 14b DOID:0081274 MONDO:equivalentTo peroxisome biogenesis disorder 14B A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. MONDO:0019234|MONDO:0006025 +MONDO:0858937 neurodevelopmental disorder with eye movement abnormalities and ataxia DOID:0081275 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. MONDO:0015802 +MONDO:0858938 cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 MONDO:equivalentTo cerebellar atrophy, visual impairment, and psychomotor retardation A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation. MONDO:0002254|MONDO:0006025 +MONDO:0858939 diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype DOID:0081277 MONDO:equivalentTo diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. MONDO:0100342 +MONDO:0858940 infant-type hemispheric glioma DOID:0081278 MONDO:equivalentTo infant-type hemispheric glioma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. MONDO:0021636 +MONDO:0858941 pituicytoma DOID:0081280 MONDO:equivalentTo pituicytoma A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. MONDO:0003257 +MONDO:0858942 papillary glioneuronal tumor DOID:0081283 MONDO:equivalentTo papillary glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. MONDO:0000628 +MONDO:0858943 rosette-forming glioneuronal tumor DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. MONDO:0000628 +MONDO:0858944 myxoid glioneuronal tumor DOID:0081285 MONDO:equivalentTo myxoid glioneuronal tumor A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. MONDO:0000628 +MONDO:0858945 embryonal tumor with multilayered rosettes DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. MONDO:0000640 +MONDO:0858946 white sponge nevus 1 DOID:0081287 MONDO:equivalentTo white sponge nevus 1 A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. MONDO:0000426|MONDO:0015748 +MONDO:0858947 white sponge nevus 2 DOID:0081288 MONDO:equivalentTo white sponge nevus 2 A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. MONDO:0000426|MONDO:0015748 +MONDO:0858948 antley-bixler syndrome DOID:0081289 MONDO:equivalentTo Antley-Bixler syndrome A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. MONDO:0015469 +MONDO:0858949 chronic traumatic encephalopathy DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. MONDO:0005574 +MONDO:0858950 traumatic brain injury DOID:0081292 MONDO:equivalentTo traumatic brain injury A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. MONDO:0005560 +MONDO:0858951 salivary gland mucoepidermoid carcinoma DOID:0081293 MONDO:equivalentTo salivary gland mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the salivary gland. MONDO:0003036|MONDO:0000521 +MONDO:0858952 neuronal intranuclear inclusion disease DOID:0081294 MONDO:equivalentTo neuronal intranuclear inclusion disease A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MONDO:0005559|MONDO:0000426 +MONDO:0858953 essential tremor 6 DOID:0081295 MONDO:equivalentTo essential tremor 6 An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MONDO:0003233|MONDO:0000426 +MONDO:0858954 oculopharyngodistal myopathy DOID:0081296 MONDO:equivalentTo oculopharyngodistal myopathy A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. MONDO:0005336 +MONDO:0858955 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0081301 MONDO:equivalentTo intellectual developmental disorder with ocular anomalies and distinctive facial features A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. MONDO:0000508 +MONDO:0858956 diffuse leptomeningeal glioneuronal tumor DOID:0081302 MONDO:equivalentTo diffuse leptomeningeal glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. MONDO:0000628 +MONDO:0858957 multinodular and vacuolating neuronal tumor DOID:0081303 MONDO:equivalentTo multinodular and vacuolating neuronal tumor A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. MONDO:0000628 +MONDO:0858958 high-grade astrocytoma with piloid features DOID:0081304 MONDO:equivalentTo high-grade astrocytoma with piloid features An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. MONDO:0016684 +MONDO:0858959 polymorphous low grade neuroepithelial tumour of the young DOID:0081305 MONDO:equivalentTo polymorphous low grade neuroepithelial tumour of the young A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. MONDO:0000628 +MONDO:0858960 spindle cell oncocytoma DOID:0081306 MONDO:equivalentTo spindle cell oncocytoma A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. MONDO:0003257 +MONDO:0858961 lymphomatoid granulomatosis DOID:0081307 MONDO:equivalentTo lymphomatoid granulomatosis A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. MONDO:0016537 +MONDO:0858962 intravascular large b-cell lymphoma DOID:0081311 MONDO:equivalentTo intravascular large B-cell lymphoma A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. MONDO:0004095 +MONDO:0858963 t-cell non-hodgkin lymphoma DOID:0081312 MONDO:equivalentTo T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. MONDO:0018908 +MONDO:0858964 primary diffuse large b-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. MONDO:0018905 +MONDO:0858965 extraventricular neurocytoma DOID:0081314 MONDO:equivalentTo extraventricular neurocytoma A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. MONDO:0002682 +MONDO:0858966 central nervous system tumor with bcor internal tandem duplication DOID:0081315 MONDO:equivalentTo central nervous system tumor with BCOR internal tandem duplication A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. MONDO:0000640 +MONDO:0858967 primary intracranial sarcoma, dicer1-mutant DOID:0081316 MONDO:equivalentTo primary intracranial sarcoma, DICER1-mutant A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. MONDO:0002216 +MONDO:0858968 multiple synostoses syndrome 1 DOID:0081317 MONDO:equivalentTo multiple synostoses syndrome 1 A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. MONDO:0017923 +MONDO:0858969 multiple synostoses syndrome 2 DOID:0081318 MONDO:equivalentTo multiple synostoses syndrome 2 A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. MONDO:0017923 +MONDO:0858970 multiple synostoses syndrome 3 DOID:0081319 MONDO:equivalentTo multiple synostoses syndrome 3 A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. MONDO:0017923 +MONDO:0858971 multiple synostoses syndrome 4 DOID:0081320 MONDO:equivalentTo multiple synostoses syndrome 4 A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. MONDO:0017923 +MONDO:0858972 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a DOID:0081321 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. MONDO:0017415|MONDO:0000426 +MONDO:0858973 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. MONDO:0017415|MONDO:0006025 +MONDO:0858974 breast implant illness DOID:0081323 MONDO:equivalentTo breast implant illness A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. MONDO:0002657|MONDO:0002254 +MONDO:0858975 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081324 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. MONDO:0019502 +MONDO:0858976 oxoglutarate dehydrogenase deficiency DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. MONDO:0006025|MONDO:0004736 +MONDO:0858977 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. MONDO:0005559 +MONDO:0858980 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. MONDO:0005275 +MONDO:0859543 autosomal recessive cutis laxa type ii classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type MONDO:0016175|MONDO:0006025 +MONDO:0859544 thyroid dyshormonogenesis 2a DOID:0112186 MONDO:equivalentTo thyroid dyshormonogenesis 2A MONDO:0006025 +MONDO:0859545 thyroid dyshormonogenesis 4 DOID:0112188 MONDO:equivalentTo thyroid dyshormonogenesis 4 MONDO:0006025 +MONDO:0859546 benign pleural mesothelioma DOID:5157 MONDO:equivalentTo benign pleural mesothelioma MONDO:0002037|MONDO:0005165|MONDO:0000382 +MONDO:0859547 anaerobic pneumonia DOID:873 MONDO:equivalentTo anaerobic pneumonia MONDO:0000265 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index 96bb5af1..a4ce291b 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -5652,5 +5652,12 @@ MONDO:0858853 arterial dissection NCIT:C99704 MONDO:equivalentTo Arterial Dissec MONDO:0858854 one vessel coronary disease NCIT:C99997 MONDO:equivalentTo One Vessel Coronary Disease MONDO:0000473 MONDO:0859471 neoplastic medium-sized lymphocyte NCIT:C37004 MONDO:equivalentTo Neoplastic Medium-Sized Lymphocyte MONDO:0859472 neoplastic b-lymphocyte NCIT:C38640 MONDO:equivalentTo Neoplastic B-Lymphocyte -MONDO:0859473 conjunctival kaposi sarcoma NCIT:C4578 MONDO:equivalentTo Conjunctival Kaposi Sarcoma MONDO:0005055 MONDO:0859474 disease, disorder or finding NCIT:C7057 MONDO:equivalentTo Disease, Disorder or Finding +MONDO:0859554 medaka melanoma NCIT:C134572 MONDO:equivalentTo Medaka Melanoma MONDO:0700196 +MONDO:0859555 xiphophorus melanoma NCIT:C134575 MONDO:equivalentTo Xiphophorus Melanoma MONDO:0700196 +MONDO:0859556 non-human or experimental organism neoplasm NCIT:C134576 MONDO:equivalentTo Non-Human or Experimental Organism Neoplasm +MONDO:0859557 refractory anemia NCIT:C2872 MONDO:equivalentTo Refractory Anemia MONDO:0005272 +MONDO:0859558 lynch 1 syndrome NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome MONDO:0005835 +MONDO:0859559 lynch 2 syndrome NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome MONDO:0005835 +MONDO:0859560 tubulostromal adenoma NCIT:C79953 MONDO:equivalentTo Tubulostromal Adenoma +MONDO:0859561 tubulostromal adenocarcinoma NCIT:C80356 MONDO:equivalentTo Tubulostromal Adenocarcinoma diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index fce76419..a11c62e9 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,132 +1,13 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0850057 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant MONDO:0018037 -MONDO:0859010 removed from database OMIM:102570 MONDO:equivalentTo removed from database -MONDO:0859011 removed from database OMIM:102920 MONDO:equivalentTo removed from database -MONDO:0859012 removed from database OMIM:102930 MONDO:equivalentTo removed from database -MONDO:0859013 removed from database OMIM:102940 MONDO:equivalentTo removed from database -MONDO:0859014 removed from database OMIM:102970 MONDO:equivalentTo removed from database -MONDO:0859015 removed from database OMIM:107253 MONDO:equivalentTo removed from database -MONDO:0859016 removed from database OMIM:108400 MONDO:equivalentTo removed from database -MONDO:0859017 removed from database OMIM:117200 MONDO:equivalentTo removed from database -MONDO:0859018 removed from database OMIM:121000 MONDO:equivalentTo removed from database -MONDO:0859019 removed from database OMIM:124580 MONDO:equivalentTo removed from database -MONDO:0859020 removed from database OMIM:125510 MONDO:equivalentTo removed from database -MONDO:0859021 removed from database OMIM:126440 MONDO:equivalentTo removed from database -MONDO:0859022 removed from database OMIM:132860 MONDO:equivalentTo removed from database -MONDO:0859023 removed from database OMIM:133710 MONDO:equivalentTo removed from database -MONDO:0859024 removed from database OMIM:133730 MONDO:equivalentTo removed from database -MONDO:0859025 removed from database OMIM:133740 MONDO:equivalentTo removed from database -MONDO:0859026 removed from database OMIM:136670 MONDO:equivalentTo removed from database -MONDO:0859027 removed from database OMIM:138391 MONDO:equivalentTo removed from database -MONDO:0859028 removed from database OMIM:139220 MONDO:equivalentTo removed from database -MONDO:0859029 removed from database OMIM:139230 MONDO:equivalentTo removed from database -MONDO:0859030 removed from database OMIM:142420 MONDO:equivalentTo removed from database -MONDO:0859031 removed from database OMIM:142870 MONDO:equivalentTo removed from database -MONDO:0859032 removed from database OMIM:143070 MONDO:equivalentTo removed from database -MONDO:0859033 removed from database OMIM:143080 MONDO:equivalentTo removed from database -MONDO:0859034 removed from database OMIM:147410 MONDO:equivalentTo removed from database -MONDO:0859035 removed from database OMIM:147490 MONDO:equivalentTo removed from database -MONDO:0859036 removed from database OMIM:147684 MONDO:equivalentTo removed from database -MONDO:0859037 removed from database OMIM:151550 MONDO:equivalentTo removed from database -MONDO:0859038 removed from database OMIM:155960 MONDO:equivalentTo removed from database -MONDO:0859039 removed from database OMIM:163900 MONDO:equivalentTo removed from database -MONDO:0859040 removed from database OMIM:164710 MONDO:equivalentTo removed from database -MONDO:0859041 removed from database OMIM:164830 MONDO:equivalentTo removed from database -MONDO:0859042 removed from database OMIM:170950 MONDO:equivalentTo removed from database -MONDO:0859043 removed from database OMIM:171700 MONDO:equivalentTo removed from database -MONDO:0859044 removed from database OMIM:177860 MONDO:equivalentTo removed from database -MONDO:0859045 removed from database OMIM:179715 MONDO:equivalentTo removed from database MONDO:0859046 rhabdomyosarcoma, embryonal, 2 OMIM:180295 MONDO:equivalentTo rhabdomyosarcoma, embryonal, 2 -MONDO:0859047 removed from database OMIM:180330 MONDO:equivalentTo removed from database -MONDO:0859048 removed from database OMIM:180930 MONDO:equivalentTo removed from database -MONDO:0859049 removed from database OMIM:180940 MONDO:equivalentTo removed from database MONDO:0859050 schistosoma mansoni infection, susceptibility/resistance to OMIM:181460 MONDO:equivalentTo schistosoma mansoni infection, susceptibility/resistance to -MONDO:0859051 removed from database OMIM:183250 MONDO:equivalentTo removed from database -MONDO:0859052 removed from database OMIM:185450 MONDO:equivalentTo removed from database -MONDO:0859053 removed from database OMIM:185595 MONDO:equivalentTo removed from database -MONDO:0859054 removed from database OMIM:186690 MONDO:equivalentTo removed from database -MONDO:0859055 removed from database OMIM:186920 MONDO:equivalentTo removed from database -MONDO:0859056 removed from database OMIM:192070 MONDO:equivalentTo removed from database -MONDO:0859057 removed from database OMIM:193675 MONDO:equivalentTo removed from database -MONDO:0859058 removed from database OMIM:194520 MONDO:equivalentTo removed from database -MONDO:0859059 removed from database OMIM:194530 MONDO:equivalentTo removed from database -MONDO:0859060 removed from database OMIM:200930 MONDO:equivalentTo removed from database -MONDO:0859061 removed from database OMIM:204400 MONDO:equivalentTo removed from database -MONDO:0859062 removed from database OMIM:211420 MONDO:equivalentTo removed from database -MONDO:0859063 removed from database OMIM:212600 MONDO:equivalentTo removed from database -MONDO:0859064 removed from database OMIM:212700 MONDO:equivalentTo removed from database -MONDO:0859065 removed from database OMIM:221000 MONDO:equivalentTo removed from database -MONDO:0859066 removed from database OMIM:225360 MONDO:equivalentTo removed from database -MONDO:0859067 removed from database OMIM:231400 MONDO:equivalentTo removed from database -MONDO:0859068 removed from database OMIM:231610 MONDO:equivalentTo removed from database -MONDO:0859069 removed from database OMIM:239400 MONDO:equivalentTo removed from database -MONDO:0859070 removed from database OMIM:240100 MONDO:equivalentTo removed from database -MONDO:0859071 removed from database OMIM:242800 MONDO:equivalentTo removed from database -MONDO:0859072 removed from database OMIM:245500 MONDO:equivalentTo removed from database -MONDO:0859073 removed from database OMIM:249800 MONDO:equivalentTo removed from database -MONDO:0859074 removed from database OMIM:252030 MONDO:equivalentTo removed from database -MONDO:0859075 removed from database OMIM:253500 MONDO:equivalentTo removed from database -MONDO:0859076 removed from database OMIM:261660 MONDO:equivalentTo removed from database -MONDO:0859077 removed from database OMIM:264810 MONDO:equivalentTo removed from database -MONDO:0859078 removed from database OMIM:275600 MONDO:equivalentTo removed from database -MONDO:0859079 removed from database OMIM:300900 MONDO:equivalentTo removed from database MONDO:0859080 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:301066 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies MONDO:0859081 chromosome xq13 duplication syndrome OMIM:301069 MONDO:equivalentTo chromosome xq13 duplication syndrome MONDO:0859082 thrombophilia, x-linked, due to factor 8 defect OMIM:301071 MONDO:equivalentTo thrombophilia, x-linked, due to factor 8 defect MONDO:0859083 systemic lupus erythematosus 17 OMIM:301080 MONDO:equivalentTo systemic lupus erythematosus 17 -MONDO:0859084 epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features OMIM:301091 MONDO:equivalentTo epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, x-linked OMIM:301094 MONDO:equivalentTo neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked -MONDO:0859086 intellectual developmental disorder, x-linked 110 OMIM:301095 MONDO:equivalentTo intellectual developmental disorder, X-linked 110 -MONDO:0859087 removed from database OMIM:301880 MONDO:equivalentTo removed from database -MONDO:0859088 removed from database OMIM:304990 MONDO:equivalentTo removed from database -MONDO:0859089 removed from database OMIM:305650 MONDO:equivalentTo removed from database -MONDO:0859090 removed from database OMIM:306600 MONDO:equivalentTo removed from database -MONDO:0859091 removed from database OMIM:308210 MONDO:equivalentTo removed from database -MONDO:0859092 removed from database OMIM:308400 MONDO:equivalentTo removed from database -MONDO:0859093 removed from database OMIM:311700 MONDO:equivalentTo removed from database -MONDO:0859094 removed from database OMIM:312030 MONDO:equivalentTo removed from database -MONDO:0859095 removed from database OMIM:312530 MONDO:equivalentTo removed from database -MONDO:0859096 removed from database OMIM:313450 MONDO:equivalentTo removed from database -MONDO:0859097 removed from database OMIM:313460 MONDO:equivalentTo removed from database -MONDO:0859098 removed from database OMIM:313550 MONDO:equivalentTo removed from database -MONDO:0859099 removed from database OMIM:314350 MONDO:equivalentTo removed from database -MONDO:0859100 removed from database OMIM:314920 MONDO:equivalentTo removed from database -MONDO:0859101 removed from database OMIM:314940 MONDO:equivalentTo removed from database -MONDO:0859102 removed from database OMIM:314960 MONDO:equivalentTo removed from database -MONDO:0859103 removed from database OMIM:400000 MONDO:equivalentTo removed from database -MONDO:0859104 removed from database OMIM:424000 MONDO:equivalentTo removed from database -MONDO:0859105 removed from database OMIM:510000 MONDO:equivalentTo removed from database -MONDO:0859106 removed from database OMIM:600261 MONDO:equivalentTo removed from database -MONDO:0859107 removed from database OMIM:600499 MONDO:equivalentTo removed from database -MONDO:0859108 removed from database OMIM:600606 MONDO:equivalentTo removed from database -MONDO:0859109 removed from database OMIM:601050 MONDO:equivalentTo removed from database -MONDO:0859110 removed from database OMIM:601106 MONDO:equivalentTo removed from database -MONDO:0859111 removed from database OMIM:601169 MONDO:equivalentTo removed from database -MONDO:0859112 removed from database OMIM:601294 MONDO:equivalentTo removed from database -MONDO:0859113 removed from database OMIM:602029 MONDO:equivalentTo removed from database -MONDO:0859114 removed from database OMIM:602147 MONDO:equivalentTo removed from database -MONDO:0859115 removed from database OMIM:602456 MONDO:equivalentTo removed from database -MONDO:0859116 removed from database OMIM:603653 MONDO:equivalentTo removed from database -MONDO:0859117 removed from database OMIM:603793 MONDO:equivalentTo removed from database -MONDO:0859118 removed from database OMIM:603986 MONDO:equivalentTo removed from database -MONDO:0859119 removed from database OMIM:603990 MONDO:equivalentTo removed from database -MONDO:0859120 removed from database OMIM:604006 MONDO:equivalentTo removed from database -MONDO:0859121 removed from database OMIM:604007 MONDO:equivalentTo removed from database -MONDO:0859122 removed from database OMIM:604338 MONDO:equivalentTo removed from database -MONDO:0859123 removed from database OMIM:604339 MONDO:equivalentTo removed from database -MONDO:0859124 removed from database OMIM:604340 MONDO:equivalentTo removed from database -MONDO:0859125 removed from database OMIM:604341 MONDO:equivalentTo removed from database -MONDO:0859126 removed from database OMIM:604342 MONDO:equivalentTo removed from database -MONDO:0859127 removed from database OMIM:604343 MONDO:equivalentTo removed from database -MONDO:0859128 removed from database OMIM:605177 MONDO:equivalentTo removed from database -MONDO:0859129 psoriatic arthritis, susceptibility to OMIM:607507 MONDO:equivalentTo psoriatic arthritis, susceptibility to -MONDO:0859130 removed from database OMIM:608297 MONDO:equivalentTo removed from database -MONDO:0859131 removed from database OMIM:609830 MONDO:equivalentTo removed from database -MONDO:0859132 removed from database OMIM:615971 MONDO:equivalentTo removed from database -MONDO:0859133 removed from database OMIM:616018 MONDO:equivalentTo removed from database -MONDO:0859134 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 OMIM:616994 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 -MONDO:0859135 removed from database OMIM:618428 MONDO:equivalentTo removed from database +MONDO:0859086 intellectual developmental disorder, x-linked 110 OMIM:301095 MONDO:equivalentTo intellectual developmental disorder, X-linked 110 MONDO:0019181 MONDO:0859136 alzahrani-kuwahara syndrome OMIM:619268 MONDO:equivalentTo alzahrani-kuwahara syndrome MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM:619286 MONDO:equivalentTo neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MONDO:0859138 mahvash disease OMIM:619290 MONDO:equivalentTo mahvash disease @@ -219,7 +100,7 @@ MONDO:0859224 intellectual disability and myopathy syndrome OMIM:619719 MONDO:eq MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities OMIM:619725 MONDO:equivalentTo neurodevelopmental disorder with or without variable movement or behavioral abnormalities MONDO:0859226 craniotubular dysplasia, ikegawa iia OMIM:619727 MONDO:equivalentTo craniotubular dysplasia, ikegawa iia MONDO:0859227 inclusion body myopathy and brain white matter abnormalities OMIM:619733 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities -MONDO:0859228 combined oxidative phosphorylation deficiency 55 OMIM:619743 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 +MONDO:0859228 combined oxidative phosphorylation deficiency 55 OMIM:619743 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 MONDO:0000732 MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619761 MONDO:equivalentTo cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism MONDO:0859230 kury-isidor syndrome OMIM:619762 MONDO:equivalentTo kury-isidor syndrome MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619769 MONDO:equivalentTo macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin @@ -233,10 +114,10 @@ MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate OMIM:619836 MON MONDO:0859239 chilton-okur-chung neurodevelopmental syndrome OMIM:619841 MONDO:equivalentTo chilton-okur-chung neurodevelopmental syndrome MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy OMIM:619844 MONDO:equivalentTo intellectual developmental disorder with or without peripheral neuropathy MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly OMIM:619847 MONDO:equivalentTo neurodegeneration, childhood-onset, with progressive microcephaly -MONDO:0859242 leukodystrophy, hypomyelinating, 24 OMIM:619851 MONDO:equivalentTo leukodystrophy, hypomyelinating, 24 +MONDO:0859242 leukodystrophy, hypomyelinating, 24 OMIM:619851 MONDO:equivalentTo leukodystrophy, hypomyelinating, 24 MONDO:0019046 MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM:619854 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency OMIM:619859 MONDO:equivalentTo phosphoribosylaminoimidazole carboxylase deficiency -MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 OMIM:619862 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 32 +MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 OMIM:619862 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 MONDO:0859246 leukodystrophy, childhood-onset, remitting OMIM:619864 MONDO:equivalentTo leukodystrophy, childhood-onset, remitting MONDO:0859247 neurocardiofaciodigital syndrome OMIM:619869 MONDO:equivalentTo neurocardiofaciodigital syndrome MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet OMIM:619871 MONDO:equivalentTo corneal dystrophy, punctiform and polychromatic pre-descemet @@ -250,18 +131,14 @@ MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive OM MONDO:0859256 neurodevelopmental disorder with language delay and seizures OMIM:619908 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures MONDO:0859257 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism OMIM:619911 MONDO:equivalentTo intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism MONDO:0859258 neurodevelopmental disorder with dystonia and seizures OMIM:619922 MONDO:equivalentTo neurodevelopmental disorder with dystonia and seizures -MONDO:0859259 carey-fineman-ziter syndrome 2 OMIM:619941 MONDO:equivalentTo carey-fineman-ziter syndrome 2 MONDO:0859260 dworschak-punetha neurodevelopmental syndrome OMIM:619955 MONDO:equivalentTo dworschak-punetha neurodevelopmental syndrome MONDO:0859261 attention deficit-hyperactivity disorder 8 OMIM:619957 MONDO:equivalentTo attention deficit-hyperactivity disorder 8 MONDO:0859262 acces syndrome OMIM:619959 MONDO:equivalentTo acces syndrome MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM:619964 MONDO:equivalentTo developmental delay, impaired speech, and behavioral abnormalities, with or without seizures -MONDO:0859264 myopathy, congenital, nonprogressive OMIM:619967 MONDO:equivalentTo myopathy, congenital, nonprogressive +MONDO:0859264 congenital myopathy 11 OMIM:619967 MONDO:equivalentTo congenital myopathy 11 MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy OMIM:619971 MONDO:equivalentTo neurodevelopmental disorder with epilepsy and brain atrophy MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy OMIM:619972 MONDO:equivalentTo neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy MONDO:0859267 tumor predisposition syndrome 2 OMIM:619975 MONDO:equivalentTo tumor predisposition syndrome 2 -MONDO:0859268 macular dystrophy, retinal, 4 OMIM:619977 MONDO:equivalentTo macular dystrophy, retinal, 4 -MONDO:0859269 braddock-carey syndrome 1 OMIM:619980 MONDO:equivalentTo braddock-carey syndrome 1 -MONDO:0859270 braddock-carey syndrome 2 OMIM:619981 MONDO:equivalentTo braddock-carey syndrome 2 MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 OMIM:619985 MONDO:equivalentTo glycosylphosphatidylinositol biosynthesis defect 25 MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies OMIM:619989 MONDO:equivalentTo neurodevelopmental disorder with speech delay and variable ocular anomalies MONDO:0859273 liver disease, severe congenital OMIM:619991 MONDO:equivalentTo liver disease, severe congenital @@ -275,22 +152,18 @@ MONDO:0859280 developmental delay, hypotonia, and impaired language OMIM:620012 MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies OMIM:620021 MONDO:equivalentTo intellectual developmental disorder with autism and dysmorphic facies MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures OMIM:620023 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities OMIM:620024 MONDO:equivalentTo neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities -MONDO:0859284 diaphragmatic hernia 4, with cardiovascular defects OMIM:620025 MONDO:equivalentTo diaphragmatic hernia 4, with cardiovascular defects MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay OMIM:620027 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, short stature, and speech delay MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM:620029 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language OMIM:620038 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, and absent language MONDO:0859288 bone marrow failure and diabetes mellitus syndrome OMIM:620044 MONDO:equivalentTo bone marrow failure and diabetes mellitus syndrome MONDO:0859289 intestinal dysmotility syndrome OMIM:620045 MONDO:equivalentTo intestinal dysmotility syndrome MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome OMIM:620058 MONDO:equivalentTo familial apolipoprotein gene cluster deletion syndrome -MONDO:0859291 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM:620062 MONDO:equivalentTo developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders OMIM:620065 MONDO:equivalentTo developmental delay, behavioral abnormalities, and neuropsychiatric disorders MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM:620066 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment -MONDO:0859294 cardiac valvular dysplasia 2 OMIM:620067 MONDO:equivalentTo cardiac valvular dysplasia 2 MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM:620070 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss OMIM:620071 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities OMIM:620073 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly OMIM:620075 MONDO:equivalentTo neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly -MONDO:0859299 bent bone dysplasia syndrome 2 OMIM:620076 MONDO:equivalentTo bent bone dysplasia syndrome 2 MONDO:0859300 neuronopathy, distal hereditary motor, iia 10 OMIM:620080 MONDO:equivalentTo neuronopathy, distal hereditary motor, iia 10 MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects OMIM:620083 MONDO:equivalentTo neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM:620085 MONDO:equivalentTo hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 @@ -299,81 +172,76 @@ MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement d MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia OMIM:620094 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies OMIM:620098 MONDO:equivalentTo developmental delay with variable intellectual disability and dysmorphic facies MONDO:0859307 cleidocranial dysplasia 2 OMIM:620099 MONDO:equivalentTo cleidocranial dysplasia 2 -MONDO:0859308 retinitis pigmentosa 95 OMIM:620102 MONDO:equivalentTo retinitis pigmentosa 95 -MONDO:0859309 spastic paraplegia 88, autosomal dominant OMIM:620106 MONDO:equivalentTo spastic paraplegia 88, autosomal dominant +MONDO:0859308 retinitis pigmentosa 95 OMIM:620102 MONDO:equivalentTo retinitis pigmentosa 95 MONDO:0019200 +MONDO:0859309 spastic paraplegia 88, autosomal dominant OMIM:620106 MONDO:equivalentTo spastic paraplegia 88, autosomal dominant MONDO:0019064 MONDO:0859310 orofaciodigital syndrome 19 OMIM:620107 MONDO:equivalentTo orofaciodigital syndrome 19 -MONDO:0859311 charcot-marie-tooth disease, demyelinating, iia 1j OMIM:620111 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1j +MONDO:0859311 charcot-marie-tooth disease, demyelinating, iia 1j OMIM:620111 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1j MONDO:0015626 MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM:620113 MONDO:equivalentTo neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures OMIM:620114 MONDO:equivalentTo neurodevelopmental disorder with speech impairment and with or without seizures -MONDO:0859314 developmental and epileptic encephalopathy 108 OMIM:620115 MONDO:equivalentTo developmental and epileptic encephalopathy 108 +MONDO:0859314 developmental and epileptic encephalopathy 108 OMIM:620115 MONDO:equivalentTo developmental and epileptic encephalopathy 108 MONDO:0100062 MONDO:0859315 fatty liver disease, protection from OMIM:620116 MONDO:equivalentTo fatty liver disease, protection from MONDO:0859316 iron overload, susceptibility to OMIM:620121 MONDO:equivalentTo iron overload, susceptibility to MONDO:0859317 pseudohypoaldosteronism, iia ib2, autosomal recessive OMIM:620125 MONDO:equivalentTo pseudohypoaldosteronism, iia ib2, autosomal recessive MONDO:0859318 pseudohypoaldosteronism, iia ib3, autosomal recessive OMIM:620126 MONDO:equivalentTo pseudohypoaldosteronism, iia ib3, autosomal recessive -MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 OMIM:620133 MONDO:equivalentTo dyskeratosis congenita, autosomal recessive 8 -MONDO:0859320 mitochondrial complex 1 deficiency, nuclear iia 39 OMIM:620135 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 39 -MONDO:0859321 mitochondrial complex 3 deficiency, nuclear iia 11 OMIM:620137 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 11 +MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 OMIM:620133 MONDO:equivalentTo dyskeratosis congenita, autosomal recessive 8 MONDO:0015780 +MONDO:0859320 mitochondrial complex 1 deficiency, nuclear iia 39 OMIM:620135 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 39 MONDO:0100223 +MONDO:0859321 mitochondrial complex 3 deficiency, nuclear iia 11 OMIM:620137 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 11 MONDO:0020811 MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM:620138 MONDO:equivalentTo myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis -MONDO:0859323 combined oxidative phosphorylation deficiency 56 OMIM:620139 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 +MONDO:0859323 combined oxidative phosphorylation deficiency 56 OMIM:620139 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 MONDO:0000732 MONDO:0859324 developmental delay, language impairment, and ocular abnormalities OMIM:620141 MONDO:equivalentTo developmental delay, language impairment, and ocular abnormalities -MONDO:0859325 developmental and epileptic encephalopathy 109 OMIM:620145 MONDO:equivalentTo developmental and epileptic encephalopathy 109 -MONDO:0859326 ichthyosis, annular epidermolytic, 2 OMIM:620148 MONDO:equivalentTo ichthyosis, annular epidermolytic, 2 -MONDO:0859327 developmental and epileptic encephalopathy 110 OMIM:620149 MONDO:equivalentTo developmental and epileptic encephalopathy 110 -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:620152 MONDO:equivalentTo hypomagnesemia 7, renal, with or without dilated cardiomyopathy -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 OMIM:620153 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 +MONDO:0859325 developmental and epileptic encephalopathy 109 OMIM:620145 MONDO:equivalentTo developmental and epileptic encephalopathy 109 MONDO:0100062 +MONDO:0859327 developmental and epileptic encephalopathy 110 OMIM:620149 MONDO:equivalentTo developmental and epileptic encephalopathy 110 MONDO:0100062 +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:620152 MONDO:equivalentTo hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 OMIM:620153 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 MONDO:0000141 MONDO:0859330 oocyte maturation defect 13 OMIM:620154 MONDO:equivalentTo oocyte maturation defect 13 MONDO:0859331 rabin-pappas syndrome OMIM:620155 MONDO:equivalentTo rabin-pappas syndrome -MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 OMIM:620156 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 11 -MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 OMIM:620157 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 70 -MONDO:0859334 spinocerebellar ataxia 50 OMIM:620158 MONDO:equivalentTo spinocerebellar ataxia 50 -MONDO:0859335 myopathy, congenital, with neonatal respiratory insufficiency OMIM:620161 MONDO:equivalentTo myopathy, congenital, with neonatal respiratory insufficiency +MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 OMIM:620156 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 11 MONDO:0000904 +MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 OMIM:620157 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 70 MONDO:0100172 +MONDO:0859334 spinocerebellar ataxia 50 OMIM:620158 MONDO:equivalentTo spinocerebellar ataxia 50 MONDO:0020380 +MONDO:0859335 congenital myopathy 15 OMIM:620161 MONDO:equivalentTo congenital myopathy 15 MONDO:0859336 muscular dystrophy, congenital, with or without seizures OMIM:620166 MONDO:equivalentTo muscular dystrophy, congenital, with or without seizures -MONDO:0859337 combined oxidative phosphorylation deficiency 57 OMIM:620167 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 -MONDO:0859338 spermatogenic failure 78 OMIM:620170 MONDO:equivalentTo spermatogenic failure 78 -MONDO:0859339 tooth agenesis, selective, 10 OMIM:620173 MONDO:equivalentTo tooth agenesis, selective, 10 -MONDO:0859340 spinocerebellar ataxia 27b, late-onset OMIM:620174 MONDO:equivalentTo spinocerebellar ataxia 27b, late-onset -MONDO:0859341 hypotrichosis 15 OMIM:620177 MONDO:equivalentTo hypotrichosis 15 -MONDO:0859342 microcephaly 30, primary, autosomal recessive OMIM:620183 MONDO:equivalentTo microcephaly 30, primary, autosomal recessive -MONDO:0859343 atelis syndrome 1 OMIM:620184 MONDO:equivalentTo atelis syndrome 1 -MONDO:0859344 atelis syndrome 2 OMIM:620185 MONDO:equivalentTo atelis syndrome 2 +MONDO:0859337 combined oxidative phosphorylation deficiency 57 OMIM:620167 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 MONDO:0000732 +MONDO:0859338 spermatogenic failure 78 OMIM:620170 MONDO:equivalentTo spermatogenic failure 78 MONDO:0004983 +MONDO:0859339 tooth agenesis, selective, 10 OMIM:620173 MONDO:equivalentTo tooth agenesis, selective, 10 MONDO:0005486 +MONDO:0859340 spinocerebellar ataxia 27b, late-onset OMIM:620174 MONDO:equivalentTo spinocerebellar ataxia 27b, late-onset MONDO:0020380 +MONDO:0859341 hypotrichosis 15 OMIM:620177 MONDO:equivalentTo hypotrichosis 15 MONDO:0003037 +MONDO:0859342 microcephaly 30, primary, autosomal recessive OMIM:620183 MONDO:equivalentTo microcephaly 30, primary, autosomal recessive MONDO:0016660 MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome OMIM:620186 MONDO:equivalentTo branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:620189 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:620189 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM:620191 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities -MONDO:0859348 lacrimoauriculodentodigital syndrome 2 OMIM:620192 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 -MONDO:0859349 lacrimoauriculodentodigital syndrome 3 OMIM:620193 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM:620194 MONDO:equivalentTo neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies MONDO:0859351 obesity and hypopigmentation OMIM:620195 MONDO:equivalentTo obesity and hypopigmentation -MONDO:0859352 spermatogenic failure 79 OMIM:620196 MONDO:equivalentTo spermatogenic failure 79 -MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620197 MONDO:equivalentTo ciliary dyskinesia, primary, 49, without situs inversus -MONDO:0859354 thyroid hormone metabolism, abnormal, 3 OMIM:620198 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 3 +MONDO:0859352 spermatogenic failure 79 OMIM:620196 MONDO:equivalentTo spermatogenic failure 79 MONDO:0004983 +MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620197 MONDO:equivalentTo ciliary dyskinesia, primary, 49, without situs inversus MONDO:0016575 +MONDO:0859354 thyroid hormone metabolism, abnormal, 3 OMIM:620198 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 3 MONDO:0031432 MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620199 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses -MONDO:0859356 congenital disorder of glycosylation, iia iiy OMIM:620200 MONDO:equivalentTo congenital disorder of glycosylation, iia iiy -MONDO:0859357 congenital disorder of glycosylation, iia iiz OMIM:620201 MONDO:equivalentTo congenital disorder of glycosylation, iia iiz -MONDO:0859358 cardiomyopathy, dilated, 2h OMIM:620203 MONDO:equivalentTo cardiomyopathy, dilated, 2h +MONDO:0859356 congenital disorder of glycosylation, iia iiy OMIM:620200 MONDO:equivalentTo congenital disorder of glycosylation, iia iiy MONDO:0005501 +MONDO:0859357 congenital disorder of glycosylation, iia iiz OMIM:620201 MONDO:equivalentTo congenital disorder of glycosylation, iia iiz MONDO:0005501 +MONDO:0859358 cardiomyopathy, dilated, 2h OMIM:620203 MONDO:equivalentTo cardiomyopathy, dilated, 2h MONDO:0016333 MONDO:0859359 blood group, er OMIM:620207 MONDO:equivalentTo blood group, er -MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 OMIM:620208 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 33 +MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 OMIM:620208 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM:620210 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia -MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620211 MONDO:equivalentTo hyperinsulinemic hypoglycemia, familial, 8 -MONDO:0859363 spastic paraplegia 79a, autosomal dominant, with ataxia OMIM:620221 MONDO:equivalentTo spastic paraplegia 79a, autosomal dominant, with ataxia -MONDO:0859364 spermatogenic failure 80 OMIM:620222 MONDO:equivalentTo spermatogenic failure 80 +MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620211 MONDO:equivalentTo hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 +MONDO:0859363 spastic paraplegia 79a, autosomal dominant, with ataxia OMIM:620221 MONDO:equivalentTo spastic paraplegia 79a, autosomal dominant, with ataxia MONDO:0019064 +MONDO:0859364 spermatogenic failure 80 OMIM:620222 MONDO:equivalentTo spermatogenic failure 80 MONDO:0004983 MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM:620224 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures -MONDO:0859366 deafness, autosomal dominant 85 OMIM:620227 MONDO:equivalentTo deafness, autosomal dominant 85 -MONDO:0859367 retinitis pigmentosa 96 OMIM:620228 MONDO:equivalentTo retinitis pigmentosa 96 +MONDO:0859366 deafness, autosomal dominant 85 OMIM:620227 MONDO:equivalentTo deafness, autosomal dominant 85 MONDO:0019587 +MONDO:0859367 retinitis pigmentosa 96 OMIM:620228 MONDO:equivalentTo retinitis pigmentosa 96 MONDO:0019200 MONDO:0859368 short qt syndrome 7 OMIM:620231 MONDO:equivalentTo short qt syndrome 7 MONDO:0859369 joint contractures, osteochondromas, and b-cell lymphoma OMIM:620232 MONDO:equivalentTo joint contractures, osteochondromas, and b-cell lymphoma MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:620233 MONDO:equivalentTo respiratory infections, recurrent, and failure to thrive with or without diarrhea MONDO:0859371 rhabdomyolysis, susceptibility to, 1 OMIM:620235 MONDO:equivalentTo rhabdomyolysis, susceptibility to, 1 -MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM:620236 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies -MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 OMIM:620237 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 78 -MONDO:0859374 deafness, autosomal recessive 120 OMIM:620238 MONDO:equivalentTo deafness, autosomal recessive 120 +MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM:620236 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:0024573 +MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 OMIM:620237 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 78 MONDO:0019502 +MONDO:0859374 deafness, autosomal recessive 120 OMIM:620238 MONDO:equivalentTo deafness, autosomal recessive 120 MONDO:0019588 MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities OMIM:620240 MONDO:equivalentTo developmental delay with hypotonia, myopathy, and brain abnormalities -MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to OMIM:620241 MONDO:equivalentTo hydrocephalus, congenital, 5, susceptibility to +MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to OMIM:620241 MONDO:equivalentTo hydrocephalus, congenital, 5, susceptibility to MONDO:0016349 MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM:620242 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities -MONDO:0859378 leukodystrophy, hypomyelinating, 25 OMIM:620243 MONDO:equivalentTo leukodystrophy, hypomyelinating, 25 -MONDO:0859379 lymphatic malformation 13 OMIM:620244 MONDO:equivalentTo lymphatic malformation 13 -MONDO:0859380 episodic kinesigenic dyskinesia 3 OMIM:620245 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 -MONDO:0859381 cardiomyopathy, dilated, 1oo OMIM:620247 MONDO:equivalentTo cardiomyopathy, dilated, 1oo -MONDO:0859382 cataract 50 with or without glaucoma OMIM:620253 MONDO:equivalentTo cataract 50 with or without glaucoma +MONDO:0859378 leukodystrophy, hypomyelinating, 25 OMIM:620243 MONDO:equivalentTo leukodystrophy, hypomyelinating, 25 MONDO:0019046 +MONDO:0859379 lymphatic malformation 13 OMIM:620244 MONDO:equivalentTo lymphatic malformation 13 MONDO:0019313 +MONDO:0859380 episodic kinesigenic dyskinesia 3 OMIM:620245 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 MONDO:0044202|MONDO:0044807 +MONDO:0859381 cardiomyopathy, dilated, 1oo OMIM:620247 MONDO:equivalentTo cardiomyopathy, dilated, 1oo MONDO:0016333 +MONDO:0859382 cataract 50 with or without glaucoma OMIM:620253 MONDO:equivalentTo cataract 50 with or without glaucoma MONDO:0005129 MONDO:0859383 ichthyosis hystrix OMIMPS:146590 MONDO:equivalentTo Ichthyosis hystrix MONDO:0859384 lacrimoauriculodentodigital syndrome OMIMPS:149730 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome MONDO:0859385 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome OMIMPS:213980 MONDO:equivalentTo Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome @@ -385,3 +253,69 @@ MONDO:0859390 epilepsy, x-linked, with or without impaired intellectual developm MONDO:0859391 ichthyosis, annular epidermolytic OMIMPS:607602 MONDO:equivalentTo Ichthyosis, annular epidermolytic MONDO:0859392 developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 MONDO:equivalentTo Developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0859393 atelis syndrome OMIMPS:620184 MONDO:equivalentTo Atelis syndrome +MONDO:0859476 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to +MONDO:0859477 spermatogenic failure, x-linked, 5 OMIM:301099 MONDO:equivalentTo spermatogenic failure, x-linked, 5 +MONDO:0859478 spermatogenic failure, x-linked, 6 OMIM:301101 MONDO:equivalentTo spermatogenic failure, x-linked, 6 +MONDO:0859479 spinocerebellar ataxia 49 OMIM:619806 MONDO:equivalentTo spinocerebellar ataxia 49 MONDO:0020380 +MONDO:0859480 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 MONDO:0100062 +MONDO:0859481 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset MONDO:0044807 +MONDO:0859482 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 MONDO:0100172 +MONDO:0859483 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 +MONDO:0859484 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 MONDO:0100172 +MONDO:0859485 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections MONDO:0021094 +MONDO:0859486 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 MONDO:0004983 +MONDO:0859487 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 MONDO:0019852 +MONDO:0859488 waardenburg syndrome, iia 2f OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f MONDO:0018094 +MONDO:0859489 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 MONDO:0004983 +MONDO:0859490 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 OMIM:619950 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 3 MONDO:0031400 +MONDO:0859491 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 OMIM:619951 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 4 MONDO:0031400 +MONDO:0859492 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive MONDO:0019064 +MONDO:0859493 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 MONDO:0100062 +MONDO:0859494 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 +MONDO:0859495 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0021094 +MONDO:0859496 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 +MONDO:0859497 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 MONDO:0015762 +MONDO:0859498 lymphatic malformation 12 OMIM:620014 MONDO:equivalentTo lymphatic malformation 12 MONDO:0019313 +MONDO:0859499 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 MONDO:0015609 +MONDO:0859500 arthrogryposis, distal, iia 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 MONDO:0019942 +MONDO:0859501 stickler syndrome, iia 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 MONDO:0019354 +MONDO:0859502 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 MONDO:0100062 +MONDO:0859503 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus MONDO:0016575 +MONDO:0859504 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 MONDO:0100062 +MONDO:0859505 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic MONDO:0015780 +MONDO:0859506 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive MONDO:0016660 +MONDO:0859507 nephrotic syndrome, iia 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 MONDO:0002350 +MONDO:0859508 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 MONDO:0020642 +MONDO:0859509 charcot-marie-tooth disease, axonal, iia 2ii OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii MONDO:0015626 +MONDO:0859510 diamond-blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 MONDO:0015253 +MONDO:0859511 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 MONDO:0004983 +MONDO:0859512 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 MONDO:0004983 +MONDO:0859513 amelogenesis imperfecta, iia 1k OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k MONDO:0019507 +MONDO:0859514 congenital myopathy 18 OMIM:620246 MONDO:equivalentTo congenital myopathy 18 +MONDO:0859515 congenital myopathy 10b, mild variant OMIM:620249 MONDO:equivalentTo congenital myopathy 10b, mild variant +MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM:620250 MONDO:equivalentTo neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum +MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive OMIM:620265 MONDO:equivalentTo congenital myopathy 2b, severe infantile, autosomal recessive +MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM:620269 MONDO:equivalentTo leukodystrophy, hypomyelinating, 26, with chondrodysplasia +MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM:620270 MONDO:equivalentTo neurodevelopmental disorder with absent speech and movement and behavioral abnormalities +MONDO:0859520 mitochondrial complex 4 deficiency, nuclear iia 23 OMIM:620275 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 23 +MONDO:0859521 oocyte maturation defect 14 OMIM:620276 MONDO:equivalentTo oocyte maturation defect 14 +MONDO:0859522 spermatogenic failure 81 OMIM:620277 MONDO:equivalentTo spermatogenic failure 81 +MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant OMIM:620278 MONDO:equivalentTo congenital myopathy 2c, severe infantile, autosomal dominant +MONDO:0859524 deafness, autosomal dominant 86 OMIM:620280 MONDO:equivalentTo deafness, autosomal dominant 86 +MONDO:0859525 deafness, autosomal dominant 87 OMIM:620281 MONDO:equivalentTo deafness, autosomal dominant 87 +MONDO:0859526 immunodeficiency 109 with lymphoproliferation OMIM:620282 MONDO:equivalentTo immunodeficiency 109 with lymphoproliferation +MONDO:0859527 deafness, autosomal dominant 88 OMIM:620283 MONDO:equivalentTo deafness, autosomal dominant 88 +MONDO:0859528 deafness, autosomal dominant 89 OMIM:620284 MONDO:equivalentTo deafness, autosomal dominant 89 +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile OMIM:620285 MONDO:equivalentTo amyotrophic lateral sclerosis 27, juvenile +MONDO:0859530 myopathy, sarcoplasmic body OMIM:620286 MONDO:equivalentTo myopathy, sarcoplasmic body +MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures OMIM:620292 MONDO:equivalentTo neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +MONDO:0859532 congenital heart defects, multiple types, 9 OMIM:620294 MONDO:equivalentTo congenital heart defects, multiple types, 9 +MONDO:0859533 myopathy, congenital (see also nemaline myopathy ({ps161800}), myofibrillar myopathy ({ps601419}), and centronuclear myopathy ({ps160150}) OMIMPS:117000 MONDO:equivalentTo Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) +MONDO:0859534 macular dystrophy, retinal OMIMPS:136550 MONDO:equivalentTo Macular dystrophy, retinal +MONDO:0859535 diaphragmatic hernia OMIMPS:142340 MONDO:equivalentTo Diaphragmatic hernia +MONDO:0859536 panic disorder OMIMPS:167870 MONDO:equivalentTo Panic disorder +MONDO:0859537 cardiac valvular defect OMIMPS:212093 MONDO:equivalentTo Cardiac Valvular Defect +MONDO:0859538 mucolipidosis OMIMPS:256550 MONDO:equivalentTo Mucolipidosis +MONDO:0859539 severe combined immunodeficiency (select examples) OMIMPS:601457 MONDO:equivalentTo Severe combined immunodeficiency (select examples) +MONDO:0859540 bent bone dysplasia syndrome OMIMPS:614592 MONDO:equivalentTo Bent bone dysplasia syndrome +MONDO:0859541 braddock-carey syndrome OMIMPS:619980 MONDO:equivalentTo Braddock-Carey Syndrome diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 151b8beb..40a185bf 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,80 +1,64 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0850001 congenital neuronal ceroid lipofuscinosis Orphanet:168486 MONDO:equivalentTo Congenital neuronal ceroid lipofuscinosis Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. MONDO:0000001 MONDO:0850004 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Orphanet:253 MONDO:equivalentTo Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia MONDO:0018230 MONDO:0850005 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Orphanet:435930 MONDO:equivalentTo Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. MONDO:0000001 MONDO:0850007 syndromic lacrimal system disorder Orphanet:519274 MONDO:equivalentTo Syndromic lacrimal system disorder MONDO:0020195 MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations MONDO:0019503 MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia MONDO:0020235 MONDO:0850010 congenital optic disc excavation Orphanet:519333 MONDO:equivalentTo Congenital optic disc excavation MONDO:0020145 -MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence MONDO:0000001 +MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence MONDO:0005570 MONDO:0850016 amniotic fluid embolism Orphanet:617304 MONDO:equivalentTo Amniotic fluid embolism MONDO:0000001 MONDO:0850017 classic eosinophilic pustular folliculitis Orphanet:617408 MONDO:equivalentTo Classic eosinophilic pustular folliculitis MONDO:0000001 MONDO:0850019 conjunctival malignant melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma MONDO:0000001 -MONDO:0850020 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:617916 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0000001 -MONDO:0850021 f12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome MONDO:0000001 +MONDO:0850020 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:617916 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0000001|MONDO:0017027 +MONDO:0850021 f12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome MONDO:0000001|MONDO:0016168 MONDO:0850022 chronic neurovisceral acid sphingomyelinase deficiency Orphanet:618891 MONDO:equivalentTo Chronic neurovisceral acid sphingomyelinase deficiency MONDO:0000001 -MONDO:0850023 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0000001 +MONDO:0850023 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0019050|MONDO:0015159|MONDO:0000001 MONDO:0850024 inherited hematologic cancer-predisposing syndrome Orphanet:619340 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome MONDO:0015356 MONDO:0850025 neonatal-onset severe multisystemic autoinflammatory disease with increased il18 Orphanet:619363 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0000001 -MONDO:0850026 samd9l-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome MONDO:0000001 -MONDO:0850027 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0000001 -MONDO:0850028 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0000001 -MONDO:0850029 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0000001 -MONDO:0850030 cadins disease Orphanet:619972 MONDO:equivalentTo CADINS disease MONDO:0000001 -MONDO:0850031 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0000001 +MONDO:0850026 samd9l-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome MONDO:0000001|MONDO:0018782 +MONDO:0850027 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0015978|MONDO:0000001 +MONDO:0850028 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0016537|MONDO:0000001 +MONDO:0850029 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0016537|MONDO:0000001 +MONDO:0850030 cadins disease Orphanet:619972 MONDO:equivalentTo CADINS disease MONDO:0000001|MONDO:0018037 +MONDO:0850031 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0000001|MONDO:0019222 MONDO:0850032 non-syndromic unisutural craniosynostosis Orphanet:620096 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis MONDO:0015337 MONDO:0850033 non-syndromic multisutural craniosynostosis Orphanet:620152 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis MONDO:0015337 -MONDO:0850034 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0000001 -MONDO:0850035 egf-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability MONDO:0000001 -MONDO:0850036 gitelman-like kidney tubulopathy due to mitochondrial dna mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0000001 -MONDO:0850037 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:621758 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0000001 +MONDO:0850034 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0016565|MONDO:0017765|MONDO:0000001|MONDO:0015962 +MONDO:0850035 egf-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability MONDO:0015962|MONDO:0017765|MONDO:0000001 +MONDO:0850036 gitelman-like kidney tubulopathy due to mitochondrial dna mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0000001|MONDO:0015962|MONDO:0019743 +MONDO:0850037 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:621758 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0000001|MONDO:0017019|MONDO:0024237 MONDO:0850038 autoimmune encephalitis Orphanet:622014 MONDO:equivalentTo Autoimmune encephalitis MONDO:0019956 MONDO:0850039 superior mesenteric artery syndrome Orphanet:622099 MONDO:equivalentTo Superior mesenteric artery syndrome MONDO:0000001 MONDO:0850043 body integrity dysphoria Orphanet:623789 MONDO:equivalentTo Body integrity dysphoria MONDO:0000001 -MONDO:0850044 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis MONDO:0000001 -MONDO:0850047 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis MONDO:0000001 -MONDO:0850055 early-onset obesity-hyperphagia-severe developmental delay syndrome Orphanet:99704 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0000001 -MONDO:0858986 autosomal dominant spastic paraplegia type 80 Orphanet:631068 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 80 -MONDO:0858987 autosomal recessive spastic paraplegia type 82 Orphanet:631073 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 82 -MONDO:0858988 autosomal recessive spastic paraplegia type 83 Orphanet:631076 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 83 -MONDO:0858989 autosomal recessive spastic paraplegia type 84 Orphanet:631079 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 84 -MONDO:0858990 autosomal recessive spastic paraplegia type 85 Orphanet:631082 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 85 -MONDO:0858991 autosomal recessive spastic paraplegia type 86 Orphanet:631085 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 86 -MONDO:0858992 autosomal recessive spastic paraplegia type 87 Orphanet:631088 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 87 -MONDO:0858993 spinocerebellar ataxia type 44 Orphanet:631095 MONDO:equivalentTo Spinocerebellar ataxia type 44 -MONDO:0858994 spinocerebellar ataxia type 48 Orphanet:631103 MONDO:equivalentTo Spinocerebellar ataxia type 48 -MONDO:0858995 spinocerebellar ataxia type 49 Orphanet:631106 MONDO:equivalentTo Spinocerebellar ataxia type 49 -MONDO:0858996 mitchell syndrome Orphanet:631248 MONDO:equivalentTo Mitchell Syndrome -MONDO:0858997 cancer of unknown primary site Orphanet:631251 MONDO:equivalentTo Cancer of unknown primary site -MONDO:0858998 horseshoe kidney-nievergelt/savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome Orphanet:632603 MONDO:equivalentTo Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome -MONDO:0858999 kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome -MONDO:0859000 slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633014 MONDO:equivalentTo SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859001 cpe-related prader-willi-like syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome -MONDO:0859003 paics deficiency Orphanet:633099 MONDO:equivalentTo PAICS deficiency -MONDO:0859004 invasive scopulariopsis infection Orphanet:633124 MONDO:equivalentTo Invasive scopulariopsis infection -MONDO:0859005 preaxial digit brachydactyly-webbed fingers Orphanet:633211 MONDO:equivalentTo Preaxial digit brachydactyly-webbed fingers -MONDO:0859006 proximal femoral focal deficiency Orphanet:633228 MONDO:equivalentTo Proximal femoral focal deficiency -MONDO:0859007 mosaic legius syndrome Orphanet:634511 MONDO:equivalentTo Mosaic Legius syndrome -MONDO:0859008 neurofibromatosis/schwannomatosis Orphanet:634518 MONDO:equivalentTo Neurofibromatosis/schwannomatosis -MONDO:0859418 twin-reversed arterial perfusion sequence Orphanet:617297 MONDO:equivalentTo Twin-reversed arterial perfusion sequence MONDO:0000001 -MONDO:0859419 selective intrauterine growth restriction Orphanet:617301 MONDO:equivalentTo Selective intrauterine growth restriction MONDO:0000001 -MONDO:0859420 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome Orphanet:617449 MONDO:equivalentTo Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome MONDO:0000001 -MONDO:0859421 autoimmune limbic encephalitis Orphanet:623615 MONDO:equivalentTo Autoimmune limbic encephalitis A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid. MONDO:0000001 -MONDO:0859422 paraneoplastic cerebellar degeneration Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration MONDO:0000001 -MONDO:0859423 non-specific autoimmune supratentorial encephalitis with characteristic antibodies Orphanet:624166 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0000001 -MONDO:0859424 non-specific autoimmune supratentorial encephalitis without characteristic antibodies Orphanet:624178 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0000001 -MONDO:0859425 non-specific autoimmune brainstem encephalitis with characteristic antibodies Orphanet:624199 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0000001 -MONDO:0859426 non-specific autoimmune brainstem encephalitis without characteristic antibodies Orphanet:624216 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0000001 -MONDO:0859427 postinfectious cerebellitis Orphanet:624244 MONDO:equivalentTo Postinfectious cerebellitis MONDO:0000001 -MONDO:0859428 non-specific autoimmune cerebellar ataxia with characteristic antibodies Orphanet:624259 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0000001 -MONDO:0859429 non-specific autoimmune cerebellar ataxia without characteristic antibodies Orphanet:624268 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0000001 -MONDO:0859430 rare andrological tumor Orphanet:626609 MONDO:equivalentTo Rare andrological tumor -MONDO:0859431 slc12a2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Orphanet:633021 MONDO:equivalentTo SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome -MONDO:0859432 slc12a2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633024 MONDO:equivalentTo SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859433 split cord malformation, composite type Orphanet:633076 MONDO:equivalentTo Split cord malformation, composite type -MONDO:0859434 mosaic neurofibromatosis type 1 Orphanet:634461 MONDO:equivalentTo Mosaic neurofibromatosis type 1 -MONDO:0859435 mosaic nf2-related schwannomatosis Orphanet:634475 MONDO:equivalentTo Mosaic NF2-related schwannomatosis -MONDO:0859436 mosaic schwannomatosis Orphanet:634492 MONDO:equivalentTo Mosaic schwannomatosis +MONDO:0850044 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis MONDO:0000001|MONDO:0015141 +MONDO:0850047 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis MONDO:0000001|MONDO:0018215 +MONDO:0850055 early-onset obesity-hyperphagia-severe developmental delay syndrome Orphanet:99704 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0000001|MONDO:0016565 +MONDO:0858986 autosomal dominant spastic paraplegia type 80 Orphanet:631068 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 80 MONDO:0000001|MONDO:0015088 +MONDO:0858987 autosomal recessive spastic paraplegia type 82 Orphanet:631073 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 82 MONDO:0000001|MONDO:0015089 +MONDO:0858988 autosomal recessive spastic paraplegia type 83 Orphanet:631076 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 83 MONDO:0000001|MONDO:0015090 +MONDO:0858989 autosomal recessive spastic paraplegia type 84 Orphanet:631079 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 84 MONDO:0000001|MONDO:0015089 +MONDO:0858990 autosomal recessive spastic paraplegia type 85 Orphanet:631082 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 85 MONDO:0000001|MONDO:0015089 +MONDO:0858991 autosomal recessive spastic paraplegia type 86 Orphanet:631085 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 86 MONDO:0000001|MONDO:0015089 +MONDO:0858992 autosomal recessive spastic paraplegia type 87 Orphanet:631088 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 87 MONDO:0000001|MONDO:0017915 +MONDO:0858993 spinocerebellar ataxia type 44 Orphanet:631095 MONDO:equivalentTo Spinocerebellar ataxia type 44 MONDO:0019793|MONDO:0000001 +MONDO:0858994 spinocerebellar ataxia type 48 Orphanet:631103 MONDO:equivalentTo Spinocerebellar ataxia type 48 MONDO:0019792|MONDO:0000001 +MONDO:0858995 spinocerebellar ataxia type 49 Orphanet:631106 MONDO:equivalentTo Spinocerebellar ataxia type 49 MONDO:0019792|MONDO:0000001 +MONDO:0858996 mitchell syndrome Orphanet:631248 MONDO:equivalentTo Mitchell Syndrome MONDO:0000001|MONDO:0015359 +MONDO:0858997 cancer of unknown primary site Orphanet:631251 MONDO:equivalentTo Cancer of unknown primary site MONDO:0000001 +MONDO:0858998 horseshoe kidney-nievergelt/savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome Orphanet:632603 MONDO:equivalentTo Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome MONDO:0019697|MONDO:0015159 +MONDO:0858999 kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0015159|MONDO:0000001 +MONDO:0859000 slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633014 MONDO:equivalentTo SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0000001|MONDO:0015159 +MONDO:0859001 cpe-related prader-willi-like syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome MONDO:0000001|MONDO:0018354 +MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0000001|MONDO:0015159 +MONDO:0859003 paics deficiency Orphanet:633099 MONDO:equivalentTo PAICS deficiency MONDO:0000001|MONDO:0018731|MONDO:0019236 +MONDO:0859004 invasive scopulariopsis infection Orphanet:633124 MONDO:equivalentTo Invasive scopulariopsis infection MONDO:0000001 +MONDO:0859005 preaxial digit brachydactyly-webbed fingers Orphanet:633211 MONDO:equivalentTo Preaxial digit brachydactyly-webbed fingers MONDO:0800093 +MONDO:0859006 proximal femoral focal deficiency Orphanet:633228 MONDO:equivalentTo Proximal femoral focal deficiency MONDO:0017420 +MONDO:0859007 mosaic legius syndrome Orphanet:634511 MONDO:equivalentTo Mosaic Legius syndrome MONDO:0019289|MONDO:0000001 +MONDO:0859008 neurofibromatosis/schwannomatosis Orphanet:634518 MONDO:equivalentTo Neurofibromatosis/schwannomatosis MONDO:0016756|MONDO:0015356 MONDO:0859437 Orphanet:C001 MONDO:equivalentTo +MONDO:0859549 hemophilia b leyden Orphanet:617930 MONDO:equivalentTo Hemophilia B Leyden MONDO:0010604 +MONDO:0859550 x-linked severe syndromic thoracic aortic aneurysm and dissection Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017310|MONDO:0800091 +MONDO:0859551 sbds-related severe neonatal spondylometaphyseal dysplasia Orphanet:622934 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0019694 +MONDO:0859552 mir140-related spondyloepiphyseal dysplasia Orphanet:623695 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia MONDO:0019695